### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SPG11) # 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}}" "SPG11" "spastic paraplegia 11 (autosomal recessive)" "15" "q13-q15" "unknown" "NG_008885.1" "UD_132118222553" "" "https://www.LOVD.nl/SPG11" "" "1" "11226" "80208" "610844" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/SPG11_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-12-23 20:26:28" "00006" "2026-03-06 17:31:41" ## 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}}" "00024040" "SPG11" "transcript variant 1" "002" "NM_025137.3" "" "NP_079413.3" "" "" "" "-31" "7757" "7332" "44955876" "44854894" "00006" "2015-06-15 11:30:40" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00108" "DYT" "dystonia (DYT)" "" "" "" "" "" "00054" "2013-01-24 21:46:00" "00006" "2018-04-03 21:21:00" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "00325" "SPG" "paraplegia, spastic (SPG)" "" "" "" "" "" "00006" "2014-02-15 22:29:17" "00006" "2016-11-28 13:01:43" "00611" "MC1DN" "mitochondrial complex I deficiency, nuclear (MC1DN)" "AR" "252010" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01933" "MPS3A" "mucopolysaccharidosis, type IIIA (MPS-3A)" "AR" "252900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02501" "SPG11" "paraplegia, spastic, autosomal recessive, type 11 (SPG-11)" "AR" "604360" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03824" "SPGF11" "spermatogenic failure, type 11 (SPGF-11)" "AD" "615081" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04255" "ALS" "sclerosis, lateral, amyotrophic (ALS)" "" "" "" "" "" "00015" "2015-05-08 11:45:27" "00006" "2015-12-08 23:53:05" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "05123" "SMA" "atrophy, muscular, spinal (SMA)" "" "" "" "" "" "00006" "2016-01-24 01:41:54" "" "" "05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" "" "05384" "neuropathy" "neuropathy" "" "" "" "" "" "00006" "2018-01-27 20:34:06" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" "06256" "ALS5" "Amyotrophic lateral sclerosis 5, juvenile" "AR" "602099" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06260" "CMT2X" "Charcot-Marie-Tooth disease, axonal, type 2X" "AR" "616668" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "07210" "scoliosis" "scoliosis" "" "" "" "" "" "00006" "2025-12-05 11:13:58" "" "" "07233" "paraplegia" "paraplegia" "" "" "" "" "" "00006" "2026-03-03 14:58:47" "" "" "07236" "motor neuron disease" "motor neuron disease" "" "" "" "" "" "00006" "2026-03-03 15:11:15" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "SPG11" "00325" "SPG11" "02501" "SPG11" "06256" "SPG11" "06260" ## 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}}" "00039356" "" "" "" "1" "" "01330" "" "" "" "" "Greece" "" "0" "" "" "" "" "00039357" "" "" "" "1" "" "01330" "" "" "" "" "Greece" "" "0" "" "" "" "" "00046996" "" "" "" "1" "" "01330" "" "" "" "" "" "" "0" "" "" "" "" "00046997" "" "" "" "1" "" "01330" "" "" "" "" "" "" "0" "" "" "" "" "00046998" "" "" "" "1" "" "01330" "" "" "" "" "" "" "0" "" "" "" "" "00046999" "" "" "" "1" "" "01330" "" "" "" "" "" "" "0" "" "" "" "" "00059134" "" "" "" "5" "" "01552" "" "family, 5 affecteds (3 affected siblings, 1 cousin), unaffected heterozygous carrier parents, heterozygous in 7 healthy related individuals" "F" "yes" "(France);Sudan" "" "0" "yes" "" "African Arabs" "" "00059230" "" "" "" "5" "" "01552" "" "family, 5 affecteds and several unaffected heterozygous carriers" "F" "yes" "(France);Sudan" "" "0" "yes" "" "" "" "00059232" "" "" "" "2" "" "01552" "" "" "M" "yes" "(France);Sudan" "" "0" "yes" "" "" "" "00059264" "" "" "" "1" "" "01500" "" "" "?" "?" "Poland" "" "0" "" "" "" "" "00059265" "" "" "" "1" "" "01500" "" "" "?" "no" "Poland" "" "0" "" "" "" "" "00059266" "" "" "" "1" "" "01500" "" "" "?" "no" "Poland" "" "0" "" "" "" "" "00059267" "" "" "" "1" "" "01500" "" "" "?" "no" "Poland" "" "0" "" "" "" "" "00059268" "" "" "" "1" "" "01500" "" "" "?" "no" "Poland" "" "0" "" "" "" "" "00059269" "" "" "" "1" "" "01500" "" "" "?" "no" "Poland" "" "0" "" "" "" "" "00059270" "" "" "" "1" "" "01500" "" "" "?" "no" "Germany" "" "0" "" "" "" "" "00059271" "" "" "" "1" "" "01500" "" "" "?" "no" "Germany" "" "0" "" "" "" "" "00059272" "" "" "" "1" "" "01500" "" "" "?" "no" "Germany" "" "0" "" "" "" "" "00059273" "" "" "" "1" "" "01500" "" "" "?" "no" "Germany" "" "0" "" "" "" "" "00059274" "" "" "" "1" "" "01500" "" "" "?" "no" "United States" "" "0" "" "" "" "" "00059275" "" "" "" "1" "" "01500" "" "" "?" "no" "Germany" "" "0" "" "" "" "" "00081079" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "" "00144618" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00150162" "" "" "" "3" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB5189" "00183456" "" "" "" "1" "" "02947" "{PMID:Giugliano 2018:30373198}" "" "M" "" "Italy" "" "0" "" "" "" "Patient XVIII" "00218044" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00274061" "" "" "" "1" "" "00006" "{PMID:Wei 2011:22216297}" "" "" "" "China" "" "0" "" "" "" "P1" "00289283" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00291216" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291217" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291218" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291219" "" "" "" "27" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291220" "" "" "" "35" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291221" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291222" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291223" "" "" "" "31" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291224" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295151" "" "" "" "87" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295499" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00295751" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00295913" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00295927" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00296867" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00300312" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00305328" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306777" "" "" "" "1" "" "01807" "" "" "?" "" "" "" "0" "" "" "" "" "00307308" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00318003" "" "" "" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKMR184" "00324342" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00324887" "" "" "" "1" "" "00006" "{DOI:Schalk 2020:10.1101/2020.12.23.424103}, {PMID:Schalk 2022:34930816}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "Fam21" "00361900" "" "" "" "1" "" "03219" "" "" "" "" "" "" "" "" "" "" "" "00361901" "" "" "" "1" "" "03219" "" "" "" "" "" "" "" "" "" "" "" "00372760" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "179077" "00374508" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4250" "00374509" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-7220" "00374510" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4523" "00374511" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4351" "00374711" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4151" "00403889" "" "" "" "2" "" "00435" "family, patient and brother with similar condition" "" "F" "" "Egypt" "" "0" "" "" "" "" "00403897" "" "" "" "3" "" "00435" "family, female with two older sisters with similar condition" "" "F" "yes" "Egypt" "" "0" "" "" "" "" "00403909" "" "" "" "1" "" "00435" "" "" "M" "yes" "Egypt" "" "" "" "" "" "" "00403923" "" "" "" "1" "" "00435" "" "" "F" "yes" "Egypt" "" "" "" "" "" "" "00403925" "" "" "" "1" "" "00435" "" "" "M" "yes" "Egypt" "" "" "" "" "" "" "00404047" "" "" "" "3" "" "00435" "" "" "M" "yes" "Egypt" "" "" "" "" "" "" "00404048" "" "" "" "2" "" "00435" "" "" "M" "yes" "Egypt" "" "" "" "" "" "" "00404050" "" "" "" "2" "" "00435" "" "" "F" "" "Egypt" "" "" "" "" "" "" "00404058" "" "" "" "4" "" "00435" "" "" "M" "yes" "Egypt" "" "" "" "" "" "" "00404063" "" "" "" "2" "" "00435" "" "" "F" "" "Egypt" "" "" "" "" "" "" "00404098" "" "" "" "2" "cc_by-sa_4.0;1" "00435" "" "" "M" "yes" "Egypt" "" "" "" "" "" "" "00404099" "" "" "" "2" "" "00435" "" "" "F" "yes" "Egypt" "" "" "" "" "" "" "00404100" "" "" "" "3" "" "00435" "" "" "M" "yes" "Egypt" "" "" "" "" "" "" "00404101" "" "" "" "3" "" "00435" "" "" "M" "yes" "Egypt" "" "" "" "" "" "" "00404102" "" "" "" "1" "" "00435" "" "" "F" "yes" "Egypt" "" "" "" "" "" "" "00407041" "" "" "" "1" "" "00006" "{PMID:Jiang 2022:33563768}" "" "M" "" "China" "" "0" "" "" "" "SPG11#1" "00407042" "" "" "" "2" "" "00006" "{PMID:Jiang 2022:33563768}" "" "F" "" "China" "" "0" "" "" "" "SPG11#2" "00408673" "" "" "" "1" "" "00006" "{PMID:Thomas 2022:34085946}" "no family history" "" "no" "France" "" "0" "" "" "" "Pat21" "00414061" "" "" "" "1" "" "03208" "Pennings et al. 2022, in progress" "" "F" "" "Netherlands" "" "0" "" "" "" "AR9" "00414062" "" "" "" "1" "" "03208" "Pennings et al. 2022, in progress" "" "M" "" "Netherlands" "" "0" "" "" "" "AR10" "00414063" "" "" "" "1" "" "03208" "Pennings et al. 2022, in progress" "" "F" "" "Netherlands" "" "0" "" "" "" "AR11" "00414064" "" "" "" "1" "" "03208" "Pennings et al. 2022, in progress" "" "M" "" "Netherlands" "" "0" "" "" "" "AR12" "00427972" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A014" "00432529" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00435207" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00442605" "" "" "" "3" "" "03312" "" "" "" "yes" "Pakistan" "" "0" "" "" "" "RDHR07" "00447356" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-389" "00455765" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "M" "" "" "" "0" "" "" "" "Pat5" "00455806" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "M" "" "" "" "0" "" "" "" "Pat46" "00455813" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "F" "" "" "" "0" "" "" "" "Pat53" "00467625" "" "" "" "1" "" "00006" "{PMID:Elmas 2019:30426380}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "Pat5" "00469415" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469416" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00470683" "" "" "" "1" "" "00006" "{PMID:Horbacz 2025:41210864}" "patient, affected mother" "F" "" "Poland" "" "0" "" "" "" "Pat44" "00471366" "" "" "" "1" "" "00006" "{PMID:Zech 2020:33098801}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "CB-DYS-131" "00471367" "" "" "" "1" "" "00006" "{PMID:Zech 2020:33098801}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "CB-DYS-165" "00472925" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "F" "no" "Iran" "" "0" "" "" "" "Fam111068Pat22" "00472980" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam9713290Pat77" "00473132" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "no" "Iran" "" "0" "" "" "" "Fam101140Pat266" "00473205" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam108540Pat387" "00473248" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam112553Pat452" "00473299" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam202531Pat537" "00473302" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam202692Pat540" "00473311" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "no" "Iran" "" "0" "" "" "" "Fam203038Pat549" "00473363" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam206922Pat637" "00473364" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam206953Pat638" "00473371" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam207118Pat646" "00473385" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam207841Pat669" "00473439" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam210924Pat751" "00473448" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam211441Pat765" "00473500" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam302571Pat861" "00473584" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "F" "no" "Iran" "" "0" "" "" "" "Fam9407532Pat974" "00473611" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam9415511Pat1008" "00473651" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam9507473Pat1065" "00473684" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam9513897Pat1107" "00473718" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam9603738Pat1155" "00473767" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam9614109Pat1222" "00473835" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam9710024Pat1319" "00473837" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam9710642Pat1323" "00473895" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam9810026Pat1406" "00473948" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam9907504Pat1477" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 121 "{{individualid}}" "{{diseaseid}}" "00039356" "02501" "00039357" "02501" "00046996" "02501" "00046997" "02501" "00046998" "02501" "00046999" "02501" "00059134" "02501" "00059230" "02501" "00059232" "02501" "00059264" "02501" "00059265" "02501" "00059266" "02501" "00059267" "02501" "00059268" "02501" "00059269" "02501" "00059270" "02501" "00059271" "02501" "00059272" "02501" "00059273" "02501" "00059274" "02501" "00059275" "02501" "00081079" "02501" "00144618" "00198" "00150162" "00198" "00183456" "00244" "00218044" "00198" "00274061" "00325" "00289283" "00198" "00291216" "00198" "00291217" "00198" "00291218" "00198" "00291219" "00198" "00291220" "00198" "00291221" "00198" "00291222" "00198" "00291223" "00198" "00291224" "00198" "00295151" "00198" "00295499" "00198" "00295751" "00198" "00295913" "00198" "00295927" "00198" "00296867" "00198" "00300312" "00198" "00305328" "00198" "00306777" "00198" "00307308" "00198" "00318003" "00139" "00324342" "00198" "00324887" "05611" "00361900" "01933" "00361900" "02501" "00361901" "00611" "00361901" "02501" "00372760" "02501" "00374508" "00198" "00374509" "00198" "00374510" "00198" "00374511" "00198" "00374711" "00198" "00403889" "02501" "00403897" "02501" "00403909" "02501" "00403923" "02501" "00403925" "02501" "00404047" "02501" "00404048" "02501" "00404050" "03824" "00404058" "02501" "00404063" "02501" "00404098" "03824" "00404099" "02501" "00404100" "02501" "00404101" "02501" "00404102" "02501" "00407041" "04255" "00407042" "04255" "00408673" "00198" "00414061" "00000" "00414062" "00000" "00414063" "00000" "00414064" "00000" "00427972" "00198" "00432529" "04255" "00435207" "00325" "00442605" "02501" "00447356" "00198" "00455765" "00198" "00455806" "00198" "00455813" "00198" "00467625" "00198" "00469415" "00198" "00469416" "00198" "00470683" "07210" "00471366" "00108" "00471367" "00108" "00472925" "05123" "00472980" "07233" "00473132" "05384" "00473205" "07233" "00473248" "07233" "00473299" "00198" "00473302" "07233" "00473311" "07236" "00473363" "04255" "00473364" "05384" "00473371" "00244" "00473385" "07233" "00473439" "07233" "00473448" "07233" "00473500" "07233" "00473584" "07233" "00473611" "05356" "00473651" "00244" "00473684" "04255" "00473718" "07233" "00473767" "05123" "00473835" "07233" "00473837" "05113" "00473895" "07233" "00473948" "05618" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00108, 00139, 00198, 00244, 00325, 00611, 01933, 02501, 03824, 04255, 05113, 05123, 05356, 05384, 05611, 05618, 06256, 06260, 07210, 07233, 07236 ## Count = 106 "{{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}}" "0000029697" "02501" "00039356" "01330" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029698" "02501" "00039357" "01330" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000035829" "02501" "00046996" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000035830" "02501" "00046997" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000035831" "02501" "00046998" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000035832" "02501" "00046999" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045731" "02501" "00059134" "01552" "Familial, autosomal recessive" "29y" "spastic paraplegia, ataxia, cognitive deficit, atrophy of the corpus callosum, motor demyelination mixed with axonal degeneration" "24y" "" "spastic ataxia" "" "" "" "" "" "" "" "" "0000045736" "02501" "00059230" "01552" "Familial, autosomal recessive" "29y" "spastic paraplegia, ataxia, dysarthria" "17y" "" "" "" "" "" "" "" "" "" "" "0000045738" "02501" "00059232" "01552" "Familial, autosomal recessive" "23y" "spastic paraplegia, muscle wasting, ataxia, dysarthria, hypokinesia, rigidity" "13y" "" "spastic paraplegia" "" "" "" "" "" "" "" "" "0000046764" "02501" "00059264" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046765" "02501" "00059265" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046766" "02501" "00059266" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046767" "02501" "00059267" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046768" "02501" "00059268" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046769" "02501" "00059269" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046770" "02501" "00059270" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046771" "02501" "00059271" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046772" "02501" "00059272" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046773" "02501" "00059273" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046774" "02501" "00059275" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046775" "02501" "00059274" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060648" "02501" "00081079" "01758" "Familial, autosomal recessive" "" "Spastic paraplegia 11, autosomal recessive (OMIM:604360)" "" "" "" "" "" "" "" "" "" "" "" "0000117359" "00198" "00144618" "01807" "Unknown" "" "HP:0001258 (Spastic paraplegia)" "" "" "" "" "" "" "" "" "" "" "" "0000122564" "00198" "00150162" "00006" "Familial, autosomal recessive" "" "hereditary spastic paraplegia" "" "" "" "" "" "" "" "" "" "" "" "0000166494" "00198" "00218044" "01807" "Unknown" "" "HP:0002352 (Leukoencephalopathy)" "" "" "" "" "" "" "" "" "" "" "" "0000171336" "00244" "00183456" "00006" "Unknown" "" "onset juvenile, distal weakness, proximal and distal muscle weaknesss, normal CPK (1x), EMG myopathic; dystrophic features,\r\ncentral nuclei, increased connective tissue and rare vacuoles" "" "" "distal weakness" "" "" "" "" "" "" "myopathy" "" "0000209035" "00325" "00274061" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SPG11" "HSP-TCC" "" "0000222914" "00198" "00289283" "01164" "Unknown" "" "Gait disturbance (HP:0001288); Hyperreflexia (HP:0001347); Talipes (HP:0001883); Broad-based gait (HP:0002136); Pelvic girdle muscle weakness (HP:0003749)" "" "" "" "" "" "" "" "" "" "" "" "0000223070" "00198" "00295499" "01164" "Unknown" "" "Abnormality of movement (HP:0100022)" "" "" "" "" "" "" "" "" "" "" "" "0000223269" "00198" "00295751" "01164" "Unknown" "" "Gait disturbance (HP:0001288); Cataract (HP:0000518); Type II diabetes mellitus (HP:0005978); Hypertension (HP:0000822); Functional abnormality of the bladder (HP:0000009)" "" "" "" "" "" "" "" "" "" "" "" "0000223389" "00198" "00295913" "01164" "Unknown" "" "Abnormality of movement (HP:0100022); Gait disturbance (HP:0001288); Spastic gait (HP:0002064)" "" "" "" "" "" "" "" "" "" "" "" "0000223403" "00198" "00295927" "01164" "Unknown" "" "Morphological abnormality of the central nervous system (HP:0002011); Abnormality of the cerebrospinal fluid (HP:0002921)" "" "" "" "" "" "" "" "" "" "" "" "0000224264" "00198" "00296867" "01164" "Unknown" "" "Hypertonia (HP:0001276); Spastic paraparesis (HP:0002313); Corpus callosum atrophy (HP:0007371); Delayed speech and language development (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "0000227622" "00198" "00300312" "01164" "Unknown" "" "Spastic paraparesis (HP:0002313)" "" "" "" "" "" "" "" "" "" "" "" "0000232605" "00198" "00306777" "01807" "Unknown" "" "Progressive spastic paraparesis (HP:0007199)" "" "" "" "" "" "" "" "" "" "" "" "0000233108" "00198" "00307308" "01164" "Unknown" "" "Lower limb hyperreflexia (HP:0002395)" "" "" "" "" "" "" "" "" "" "" "" "0000241787" "00139" "00318003" "00006" "Familial, autosomal recessive" "" "Moderate ID, weak memory, weak limbs and muscles" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000242885" "00198" "00324342" "01807" "Unknown" "" "Spastic paraplegia (HP:0001258); Myopathy (HP:0003198)" "" "" "" "" "" "" "" "" "" "" "" "0000243383" "05611" "00324887" "00006" "Isolated (sporadic)" "09y" "see paper; ..., birth 40w, weight +0/13SD, OFC -1.3SD; weight -1.7SD, length -2.6SD, OFC -2.07SD; severe intellectual disability/developemental delay; hypotonia; seizures; motor delay; 35m-walk; speech delay; no speech; autistic behaviour; stereotypies; hyperactivity; feeding difficulties; sleeping disturbance; almond eyes; thin upper lip; epicanthus" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000257295" "01933" "00361900" "03219" "Familial, autosomal recessive" "" "Intellectual delay, coarse face, enzyme assay suggestive of Sanfilipo disease" "" "" "" "" "" "" "" "" "" "" "" "0000257296" "00611" "00361901" "03219" "Familial, autosomal recessive" "" "Neuroregression following viral illness, hypotonia, normal deep tendon reflexes" "" "" "" "" "" "" "" "" "" "" "" "0000257297" "02501" "00361901" "03219" "Familial, autosomal recessive" "" "Neuroregression following viral illness, hypotonia, normal deep tendon reflexes" "" "" "" "" "" "" "" "" "" "" "" "0000268037" "02501" "00372760" "01164" "Familial, autosomal recessive" "" "Spastic paraparesis and paraplegia" "" "" "" "" "" "" "" "" "30y" "" "" "0000269718" "00198" "00374508" "00006" "Familial, autosomal recessive" "" "Muscular dystrophy" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000269719" "00198" "00374509" "00006" "Familial, autosomal recessive" "" "Progressive spastic paraplegia and cognitive impairment" "" "" "" "" "" "" "" "" "" "spasticity" "" "0000269720" "00198" "00374510" "00006" "Familial, autosomal recessive" "" "Problems with walking, talking and memory" "" "" "" "" "" "" "" "" "" "spasticity" "" "0000269721" "00198" "00374511" "00006" "Familial, autosomal recessive" "" "Difficulty in walking and learning" "" "" "" "" "" "" "" "" "" "spasticity" "" "0000269921" "00198" "00374711" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000296568" "02501" "00403889" "00435" "Familial, autosomal recessive" "25y" "delayed mental and physical development, spastic lower limbs, hyperreflexia, Babinski sign, intact abdominal reflex, pes cavus; brother with similar condition" "07y" "" "7y" "" "" "" "" "" "HSP" "HSP" "" "0000296570" "02501" "00403897" "00435" "Familial, autosomal recessive" "20y" "11y-developed illness, spastic lower limbs, hyperreflexia, intact abdominal reflexes, Babinski sign, bilateral pes cavus; two older sisters with similar condition" "11y" "15y" "" "" "" "" "" "" "SPG11" "HSP" "" "0000296575" "02501" "00403909" "00435" "Familial, autosomal recessive" "38y" "spastic lower limbs, cerebellar ataxia, pes cavus" "" "22y" "18y" "" "" "" "" "" "SPG11" "HSP" "" "0000296578" "02501" "00403923" "00435" "Familial, autosomal recessive" "42y" "Progressive spastic paraparesis" "21y" "33y" "" "" "" "" "" "" "SPG11" "HSP" "" "0000296580" "02501" "00403925" "00435" "Familial, autosomal recessive" "32y" "Progressive spastic paraparesis" "16y" "28y" "" "" "" "" "" "" "SPG11" "HSP" "" "0000296640" "02501" "00404047" "00435" "Familial, autosomal recessive" "22y" "22-y with progressive spastic paraparesis, cerebellar ataxia, peripheral neuropathy and pes cavus. Nerve conduction velocity study showed demyelinating peripheral neuropathy" "13y" "" "" "" "" "" "" "" "SPG11" "Cerebellar and sensory ataxia, spastic paraparesis and peripheral neuropathy" "" "0000296641" "02501" "00404048" "00435" "Familial, autosomal recessive" "16y" "16-y male with progressive cerebellar ataxia and peripheral neuropathy. Neurological examination revealed intention tremors, staccato speech, pes cavus, stocking and glove hypesthesia, exaggerated knee reflex and Babinski sign" "12y" "" "SCA" "" "" "" "" "" "SPG11" "SCA" "" "0000296643" "03824" "00404050" "00435" "Familial, autosomal recessive" "28y" "28y female with progressive spastic paraparesis, mental retardation, slurred speech and pes cavus" "16y" "" "" "" "" "" "" "" "SPG11" "HSP" "" "0000296651" "02501" "00404058" "00435" "Familial, autosomal recessive" "36y" "36-y man with progressive spastic paraparesis. Neurological examination showed spastic lower limbs, pes cavus and peripheral neuropathy. Nerve conduction velocity study showed demyelinating peripheral Neuropathy" "16y" "" "" "" "" "" "" "" "SPG11" "HSP" "" "0000296655" "02501" "00404063" "00435" "Familial, autosomal recessive" "20y" "20-y female with progressive spastic paraparesis, pes cavus, peripheral neuropathy, mild/moderate mental subnormality." "15y" "" "" "" "" "" "" "" "" "15y" "" "0000296687" "03824" "00404098" "00435" "Familial, autosomal recessive" "28y" "28-y male with delayed mental development. He developed progressive spastic lower limbs, wasting of small muscles of the hands and pes cavus. He has two paternal male uncles with similar condition." "12y" "" "" "" "" "" "" "" "SPG11" "HSP" "" "0000296688" "02501" "00404099" "00435" "Familial, autosomal recessive" "34y" "34-y female with progressive spasticity in both lower limbs and cognitive deterioration and stocking and glove hypesthesia." "16y" "" "" "" "" "" "" "" "SPG11" "HSP" "" "0000296689" "02501" "00404100" "00435" "Familial, autosomal recessive" "42y" "42-y man with progressive spastic lower limbs, slurred speech and bilateral pes cavus." "28y" "" "" "" "" "" "" "" "SPG11" "HSP" "" "0000296690" "02501" "00404101" "00435" "Familial, autosomal recessive" "18y" "18-y male with progressive weakness and spasticity of both lower limbs, cognitive deterioration, limb ataxia, peripheral neuropathy and bilateral pes cavus. He had history of delayed mental and motor development." "11y" "" "" "" "" "" "" "" "SPG11" "SCA; HSP" "" "0000296691" "02501" "00404102" "00435" "Unknown" "38y" "38-y woman with progressive weakness and spasticity of both lower limbs, mild hand weakness and bilateral pes cavus." "22y" "" "" "" "" "" "" "" "SPG11" "HSP" "" "0000299429" "04255" "00407041" "00006" "Familial, autosomal recessive" "23y" "site onset limb" "" "" "" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "" "0000299430" "04255" "00407042" "00006" "Familial, autosomal recessive" "14y" "site onset limb" "" "" "" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "" "0000300791" "00198" "00408673" "00006" "Familial, autosomal recessive" "" "" "12y" "" "" "" "" "" "" "" "SPG11" "cerebellar ataxia" "" "0000305962" "00000" "00414061" "03208" "Familial, autosomal recessive" "" "spasticity, dysarthria" "" "" "" "" "" "" "" "" "" "" "" "0000305963" "00000" "00414062" "03208" "Familial, autosomal recessive" "" "spasticity and speech problems" "" "" "" "" "" "" "" "" "" "" "" "0000305964" "00000" "00414063" "03208" "Familial, autosomal recessive" "" "spastic paraplegia, swallowing and speech disorder" "" "" "" "" "" "" "" "" "" "" "" "0000305965" "00000" "00414064" "03208" "Familial, autosomal recessive" "" "hereditary spastic paraplegia" "" "" "" "" "" "" "" "" "" "" "" "0000318918" "00198" "00427972" "00006" "Familial, autosomal recessive" "43y" "" "" "" "" "" "" "" "" "" "SPG11" "spastic paraplegia" "" "0000336555" "00198" "00447356" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000344298" "00198" "00455765" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SPG11" "neurogenetic diseases" "" "0000344339" "00198" "00455806" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SPG11" "neurogenetic diseases" "" "0000344346" "00198" "00455813" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SPG11" "neurogenetic diseases" "" "0000352837" "00198" "00467625" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., neurological disorders; walking disability, moderate learning disability, decrease of muscular power at extremities, bilateral trigger finger at 5th hand fingers, spasticity at foot, increase of deep tendon reflex, pes cavus; MRI periventricular hyperintensity,; no cardiac anomalies" "96m" "" "" "" "" "" "" "" "SPG11" "" "" "0000354568" "00198" "00469415" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" "0000354569" "00198" "00469416" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" "0000355577" "07210" "00470683" "00006" "Familial" "14y" "see paper; ... scoliosis, no other skeletal defects; back pain; cleft lip; physical activity" "" "" "" "" "" "" "" "" "" "severe adolescent idiopathic scoliosis" "" "0000356203" "00108" "00471366" "00006" "Familial, autosomal recessive" "" "combined dystonia, coexisting non-movement disorder-related neurological symptoms; onset childhood (3-12y); segmental dystonia; no dystonic cerebral palsy" "" "" "" "" "" "" "" "" "SPG11" "dystonia" "" "0000356204" "00108" "00471367" "00006" "Familial, autosomal recessive" "" "combined dystonia, coexisting non-movement disorder-related neurological symptoms; onset adolescence (13-20y); generalized dystonia; no dystonic cerebral palsy" "" "" "" "" "" "" "" "" "SPG11" "dystonia" "" "0000357720" "05123" "00472925" "00006" "Familial, autosomal recessive" "32y" "onset 15y , multiple affected individuals ,non-consanguineous parents , lower muscle weakness and cramps, decreased DTR, lower and bulbar muscle involvement , dysarthria , unbalanced gait,chronic motor neurogenic process reported in EMG/NCV,negative for SMN deletion screening , focal periventricular high density reported in brain MRI." "" "" "" "" "" "" "" "" "" "spinal myscular atrophy" "" "0000357775" "07233" "00472980" "00006" "Familial, autosomal recessive" "20y" "Myopia; Amblyopia; Ataxia; Mild atrophy of thenar & hypothenar muscles; Lower limb spasticity & weakness; Borderline learning disability; Urinary urgency; Tip-toe walking; Spastic gait; Dysarthria; Brain MRI: bilateral periventricular cerebral white matter disease, severe thinning of genu and major ant body of corpus callosum, atrophy; EMG-NCV:R/O familial spastic paraparesia." "" "" "" "" "" "" "" "" "" "hereditary paraplegia" "" "0000357927" "05384" "00473132" "00006" "Unknown" "5y" "onset 1.5y with delayed walking; Difficulty walking, running & climbing steps; Frequent falls; Abnormal gait, imbalance; Muscle weakness & wasting, distal>proximal, lower>upper limbs; Thenar & hypothenar atrophy; Hands tremor; Claw fingers/toes; Pes cavus, bilateral; Deformed ankles; EMG-NCV: distal symmetrical polyneuropathy, axonal & demyelinating, mixed sensory & motor." "" "" "" "" "" "" "" "" "" "hereditary neuropathy" "" "0000358000" "07233" "00473205" "00006" "Familial, autosomal recessive" "17y" "Developmental delay; Speech delay; Mild mental retardation; Delayed walking; Difficulty climbing steps & rising from seated position; Generalized hypotonia; Early fatiguability of the musculature; Brain MRIs: suggestive of metabolic disease, ADEM disease, Demyelinating disease or Multiple sclerosis; EMG-NCV: suggestive of upper motor neuron lesions (transvers myelitis); Elevated CPK & Aldolase; Increased prolactin." "" "" "" "" "" "" "" "" "" "hereditary paraplegia" "" "0000358043" "07233" "00473248" "00006" "Familial, autosomal recessive" "20y" "Delayed speech; Hypertelorism; Upper limb muscle weakness; Spasticity; Difficulty rising from seated position; Gait disturbance; Waddling gait; Pes planus, bilateral; Short stature; FTT; EMG-NCV: chronic neurogenic changes, lower>upper limbs with mild spontaneous activity in some examined muscles in favor of chronic anterior horn cell damages, additionally, hereditary spastic paraparesis & other hereditary disorder such as myopathy are in DDx." "" "" "" "" "" "" "" "" "" "hereditary paraplegia" "" "0000358094" "00198" "00473299" "00006" "Familial, autosomal recessive" "22y" "onset 4y, frequent falling, running and climbing difficulty, chronic anterior horn cell disease reported in EMG/NCV, exercise intolerance, genu valgus and elevated CPK" "" "" "" "" "" "" "" "" "" "anterior horn cell disease" "" "0000358097" "07233" "00473302" "00006" "Familial, autosomal recessive" "19y" "onset threey earlier with spastic gait, lower limb weakness and spasticity, dysarthria, pes cavus, neurogenic pattern with motor neuron disease reported in EMG/NCV" "" "" "" "" "" "" "" "" "" "hereditary paraplegia" "" "0000358106" "07236" "00473311" "00006" "Unknown" "36y" "Progressive lower and muscle weakness started 15y, bulbar dysfunction, dysphagia, dysarthria, achalasia, lower muscle atrophy, tongue weakness and atrophy, and motor neuron disease reported in EMG/NCV" "" "" "" "" "" "" "" "" "" "motor neuron disease" "" "0000358158" "04255" "00473363" "00006" "Unknown" "36y" "Progressive lower muscle weakness started 9y, foot drop, gait difficulty, bulbar dysfunction , thenar atrophy, active motor neuron disease reported in EMG/NCV" "" "" "" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "" "0000358159" "05384" "00473364" "00006" "Familial, autosomal recessive" "15y" "Lower muscle weakness started 2y, chweing difficulty ,dysphagia , mild intellectual disability, chronic axonal type motor polyneuropathy,bulbar dysfunction, speech difficultyand areflexia" "" "" "" "" "" "" "" "" "" "hereditary neuropathy" "" "0000358166" "00244" "00473371" "00006" "Familial" "44y" "onset 36y, Abnormal gait; Proximal Muscle weakness, lower limbs; Difficulty running & climbing steps; Easy fatigability; Mild spasticity; Imbalance; Difficulty toes>heel walking; Muscle biopsy: suggestive of mitochondrial myopathy; EMG_NCV was suggestive of normal pattern in both upper/lower limbs; Mildly valve abnormalities in Echocardiography." "" "" "" "" "" "" "" "" "" "mitochondrial myopathy" "" "0000358180" "07233" "00473385" "00006" "Familial, autosomal recessive" "23y" "spastic gait, pes planus, increased DTR, proximal muscle weakness, dysarthria, mild paranchymal brain atrophy." "" "" "" "" "" "" "" "" "" "hereditary paraplegia" "" "0000358234" "07233" "00473439" "00006" "Familial, autosomal recessive" "25y" "Started 7y with lower limb spasticity and wakness , ataxic gait, spasticity, dysarthria, dysphagia, hyperreflexia, assistance walking , elevated CPK, neurogenic pattern reported in EDX." "" "" "" "" "" "" "" "" "" "hereditary paraplegia" "" "0000358243" "07233" "00473448" "00006" "Unknown" "23y" "sporadic case, started 3y with progressive spasticity , spastic gait, asymmetric hypereflexia, gait abnormality, motor neuron disease reported in EDX, periventricular white matter hyperintensities in a symmetric pattern" "" "" "" "" "" "" "" "" "" "hereditary paraplegia" "" "0000358295" "07233" "00473500" "00006" "Familial, autosomal recessive" "31y" "Sporadic case, age 31y old, started 11 months ago with gait abnormality, spastic gait, dysarthria, hyperreflexia, normal CPK and chronic anterior horn cell damage reported in EDX." "" "" "" "" "" "" "" "" "" "hereditary paraplegia" "" "0000358379" "07233" "00473584" "00006" "Familial, autosomal recessive" "22y" "Muscle atrophy; Spastic gait; Dysarthria; Cognitive deficits; Tremor; Lower limb spasticity; Hyperreflexia; Motor neuropathy; Thin corpus callosum" "" "" "" "" "" "" "" "" "" "hereditary paraplegia" "" "0000358406" "05356" "00473611" "00006" "Familial, autosomal recessive" "21y" "Gait ataxia; Muscle weakness, upper and lower limbs; Paraesthesia, lower limbs distal; Hypothenar atrophy, mild; Spasticity, lower>upper; Dysmetria; Slurred speech; Tremor; Nystagmus; Skin hyperpigmentation" "" "" "" "" "" "" "" "" "" "hereditary ataxia" "" "0000358446" "00244" "00473651" "00006" "Familial, autosomal recessive" "18y" "Muscle weakness, proximal, progressive, lower>upper; Difficulty climbing stairs, running and jumping; Hypermobility of joints, fingers & wrist; and Mild gait abnormality. EMG-NCV finding is compatible with a myopathic process and histochemical pathologic findings from muscle biopsy are suggestive of neurogenic atrophy or secondary neurogenic changes in disuse or NMJ disorders" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000358479" "04255" "00473684" "00006" "Familial, autosomal recessive" "25y" "onset 17y; Muscle weakness, upper/lower limbs; Difficulty climbing steps; Myopia; Cognitive decline; Atypical behavior; Abnormal gait; EMG-NCV: chronic neurogenic changes, compatible with chronic anterior horn cell disease; Elevated CPK & LDH." "" "" "" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "" "0000358513" "07233" "00473718" "00006" "Familial, autosomal recessive" "18y" "Lower limbs muscle weakness, stiffness and cramp; Spastic paraparesis, lower limbs. Brain MRI showed thinning of the corpus callosum" "" "" "" "" "" "" "" "" "" "hereditary paraplegia" "" "0000358562" "05123" "00473767" "00006" "Familial, autosomal recessive" "22y" "onset 17y with foot drop & lower muscle weakness; Distal lower muscle weakness due to neuropathy; Mild distal lower muscle atrophy; Abnormal gait; EMG-NCV: generalized chronic neurogenic process in lower motor neurons suggestive of SMA type III or chronic ant. horn disease." "" "" "" "" "" "" "" "" "" "spinal myscular atrophy" "" "0000358630" "07233" "00473835" "00006" "Familial, autosomal recessive" "16y" "Muscle weakness and mild wasting, legs>arms; Difficulty running and climbing steps; Ataxia; Spastic paraparesis; Hyperlaxity in joints; Cortical agenesia; Agenesis of the corpus callosum; Dysarthria; Lordosis; Flat feet; Speech problem; Seizure, once; Flat face; Upturned nose; Short nasal bridge; Full lips; Prognathia; Foot drop; EMG-NCV: normal; Brain MRI: ischemic hypoxic changes with mild degree of brain volume loss." "" "" "" "" "" "" "" "" "" "hereditary paraplegia" "" "0000358632" "05113" "00473837" "00006" "Familial, autosomal recessive" "27y" "onset 12y, Mild facial weakness; Generalized muscle weakness; Tremor; Atrophy of the thenar & hypothenar; Pes cavus; Dysarthria; Wheel-chair bound; Increased cervical lordosis; Muscle biopsy: neurogenic atrophy with fiber type grouping; Brain MRI: R/O demyelinating dis. or ischemic change; EMG-NCV: compatible with chronic ant horn cell dis." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000358690" "07233" "00473895" "00006" "Familial, autosomal recessive" "22y" "onset:18y with muscle spasm in legs; Lower limb spasticity; Paraparesis in lower limb; Spastic gait; Ataxia, mild; EMG-NCV: not sig. finding; Abnormal bilateral pattern VEP, right>left; Neurocranium MRI: Diffuse narrowing in corpus callosum with periventricular hyper signal foci in FLAIR, mild dilatation of lateral ventricles, could be related to mild old PVL." "" "" "" "" "" "" "" "" "" "hereditary paraplegia" "" "0000358743" "05618" "00473948" "00006" "Unknown" "38y" "Movement regression in lower limbs; Gait imbalance; Mild learning difficulty; Motor development; Spasticity; Brain MRI: abnormal signal in white matter, most compatible with demyelinating plaques, MS type, and mild prominence of CSF spaces." "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" ## 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}}" "0000039594" "00039356" "1" "01330" "01330" "2015-06-13 11:57:31" "" "" "SEQ" "DNA" "" "" "0000039595" "00039357" "1" "01330" "01330" "2015-06-13 12:03:47" "" "" "SEQ" "DNA" "" "" "0000047196" "00046996" "1" "01330" "01330" "2015-08-04 16:32:52" "" "" "SEQ" "DNA" "" "" "0000047197" "00046997" "1" "01330" "01330" "2015-08-04 16:35:14" "" "" "SEQ" "DNA" "" "" "0000047198" "00046998" "1" "01330" "01330" "2015-08-04 16:49:23" "" "" "SEQ" "DNA" "" "" "0000047199" "00046999" "1" "01330" "01330" "2015-08-04 16:51:47" "" "" "SEQ" "DNA" "" "" "0000059104" "00059134" "1" "01552" "01552" "2016-02-27 00:02:35" "01552" "2016-03-04 11:30:38" "micro;SEQ" "DNA" "" "" "0000059217" "00059230" "1" "01552" "01552" "2016-03-04 10:43:27" "" "" "micro;SEQ" "DNA" "" "" "0000059219" "00059232" "1" "01552" "01552" "2016-03-04 11:16:15" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059251" "00059264" "1" "01500" "01500" "2016-03-09 12:19:30" "" "" "SEQ" "DNA" "leukocytes" "" "0000059252" "00059265" "1" "01500" "01500" "2016-03-09 12:26:14" "" "" "SEQ" "DNA" "leukocytes" "" "0000059253" "00059266" "1" "01500" "01500" "2016-03-09 12:32:41" "" "" "SEQ" "DNA" "leukocytes" "" "0000059254" "00059267" "1" "01500" "01500" "2016-03-09 12:38:37" "" "" "SEQ" "DNA" "leukocytes" "" "0000059255" "00059268" "1" "01500" "01500" "2016-03-09 12:42:35" "" "" "SEQ" "DNA" "leukocytes" "" "0000059256" "00059269" "1" "01500" "01500" "2016-03-09 12:45:46" "" "" "SEQ" "DNA" "leukocytes" "" "0000059257" "00059270" "1" "01500" "01500" "2016-03-09 12:52:06" "" "" "MLPA" "DNA" "leukocytes" "" "0000059258" "00059271" "1" "01500" "01500" "2016-03-09 12:57:16" "" "" "SEQ" "DNA" "" "" "0000059259" "00059272" "1" "01500" "01500" "2016-03-09 13:00:31" "" "" "SEQ" "DNA" "leukocytes" "" "0000059260" "00059273" "1" "01500" "01500" "2016-03-09 13:04:43" "" "" "SEQ" "DNA" "leukocytes" "" "0000059261" "00059274" "1" "01500" "01500" "2016-03-09 13:07:47" "" "" "SEQ" "DNA" "leukocytes" "" "0000059262" "00059274" "1" "01500" "01500" "2016-03-09 13:11:13" "" "" "SEQ" "DNA" "" "" "0000059263" "00059275" "1" "01500" "01500" "2016-03-09 13:13:20" "" "" "SEQ" "DNA" "" "" "0000081191" "00081079" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000145475" "00144618" "0" "01807" "01807" "2017-12-18 12:53:48" "" "" "SEQ" "DNA" "" "" "0000151017" "00150162" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000184424" "00183456" "1" "02947" "02947" "2018-10-25 15:33:47" "" "" "arrayCGH" "DNA" "" "" "0000219114" "00218044" "1" "01807" "01807" "2019-01-17 11:44:10" "" "" "SEQ" "DNA" "" "" "0000275218" "00274061" "1" "00006" "00006" "2019-12-23 20:45:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000290453" "00289283" "1" "01164" "01164" "2020-03-02 12:26:18" "" "" "SEQ-NG-S" "DNA" "" "" "0000292384" "00291216" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292385" "00291217" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292386" "00291218" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292387" "00291219" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292388" "00291220" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292389" "00291221" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292390" "00291222" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292391" "00291223" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292392" "00291224" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296319" "00295151" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296667" "00295499" "1" "01164" "01164" "2020-03-12 11:13:19" "" "" "SEQ-NG-S" "DNA" "" "" "0000296924" "00295751" "1" "01164" "01164" "2020-03-26 12:30:11" "" "" "SEQ-NG-S" "DNA" "" "" "0000297085" "00295913" "1" "01164" "01164" "2020-03-30 10:43:54" "" "" "SEQ-NG-S" "DNA" "" "" "0000297099" "00295927" "1" "01164" "01164" "2020-03-30 10:44:21" "" "" "SEQ-NG-S" "DNA" "" "" "0000297977" "00296867" "1" "01164" "01164" "2020-04-14 14:29:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000301433" "00300312" "1" "01164" "01164" "2020-04-30 13:29:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000306457" "00305328" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307913" "00306777" "1" "01807" "01807" "2020-07-20 10:35:01" "" "" "SEQ" "DNA" "" "" "0000308450" "00307308" "1" "01164" "01164" "2020-08-10 12:19:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000319185" "00318003" "1" "00006" "00006" "2020-11-05 17:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000325532" "00324342" "1" "01807" "01807" "2020-12-07 15:31:01" "" "" "SEQ" "DNA" "" "" "0000326094" "00324887" "1" "00006" "00006" "2020-12-24 15:03:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000363128" "00361900" "1" "03219" "03219" "2021-04-12 06:22:50" "" "" "SEQ-NG" "DNA" "" "" "0000363129" "00361901" "1" "03219" "03219" "2021-04-12 06:29:56" "" "" "SEQ-NG" "DNA" "" "" "0000373993" "00372760" "1" "01164" "01164" "2021-05-11 15:19:50" "" "" "SEQ-NG-I" "DNA" "" "" "0000375702" "00374508" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375703" "00374509" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375704" "00374510" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375705" "00374511" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375905" "00374711" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000405127" "00403889" "1" "00435" "00435" "2022-02-24 18:59:49" "" "" "SEQ" "DNA" "blood" "" "0000405135" "00403897" "1" "00435" "00435" "2022-02-24 20:12:22" "" "" "SEQ" "DNA" "blood" "" "0000405147" "00403909" "1" "00435" "00435" "2022-02-24 21:18:38" "" "" "SEQ" "DNA" "blood" "" "0000405161" "00403923" "1" "00435" "00435" "2022-02-24 22:06:44" "" "" "SEQ" "DNA" "blood" "" "0000405163" "00403925" "1" "00435" "00435" "2022-02-24 22:33:59" "" "" "SEQ" "DNA" "blood" "" "0000405286" "00404047" "1" "00435" "00435" "2022-02-25 15:04:07" "" "" "SEQ" "DNA" "blood" "" "0000405287" "00404048" "1" "00435" "00435" "2022-02-25 15:15:55" "" "" "SEQ" "DNA" "blood" "" "0000405289" "00404050" "1" "00435" "00435" "2022-02-25 15:36:05" "" "" "SEQ" "DNA" "blood" "" "0000405297" "00404058" "1" "00435" "00435" "2022-02-25 16:11:45" "" "" "SEQ" "DNA" "blood" "" "0000405300" "00404063" "1" "00435" "00435" "2022-02-25 17:35:25" "" "" "SEQ" "DNA" "blood" "" "0000405336" "00404098" "1" "00435" "00435" "2022-02-27 12:39:53" "" "" "SEQ" "DNA" "blood" "" "0000405337" "00404099" "1" "00435" "00435" "2022-02-27 12:53:49" "" "" "SEQ" "DNA" "blood" "" "0000405338" "00404100" "1" "00435" "00435" "2022-02-27 13:04:26" "" "" "SEQ" "DNA" "blood" "" "0000405339" "00404101" "1" "00435" "00435" "2022-02-27 13:18:37" "" "" "SEQ" "DNA" "blood" "" "0000405340" "00404102" "1" "00435" "00435" "2022-02-27 13:30:30" "" "" "SEQ" "DNA" "blood" "" "0000408288" "00407041" "1" "00006" "00006" "2022-04-05 18:59:54" "" "" "SEQ" "DNA" "" "" "0000408289" "00407042" "1" "00006" "00006" "2022-04-05 18:59:54" "" "" "SEQ" "DNA" "" "" "0000409935" "00408673" "1" "00006" "00006" "2022-04-25 19:53:26" "" "" "SEQ-NG" "DNA" "" "" "0000415340" "00414061" "1" "03208" "00006" "2022-07-27 10:49:59" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000415341" "00414062" "1" "03208" "00006" "2022-07-27 10:49:59" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000415342" "00414063" "1" "03208" "00006" "2022-07-27 10:49:59" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000415343" "00414064" "1" "03208" "00006" "2022-07-27 10:49:59" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000429385" "00427972" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood, peripheral blood mononuclear cells" "singleton WES" "0000433971" "00432529" "1" "01741" "01741" "2023-02-24 09:55:55" "" "" "SEQ-NG" "DNA" "" "" "0000436682" "00435207" "1" "01741" "01741" "2023-06-08 13:10:46" "" "" "SEQ-NG" "DNA" "" "" "0000444089" "00442605" "1" "03312" "03312" "2023-11-22 06:57:35" "" "" "SEQ-NG-I" "DNA" "Blood" "Reconfirmed by Sanger sequencing" "0000448933" "00447356" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000457381" "00455765" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000457422" "00455806" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000457429" "00455813" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000469290" "00467625" "1" "00006" "00006" "2025-10-24 22:46:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471083" "00469415" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471084" "00469416" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472350" "00470683" "1" "00006" "00006" "2025-12-05 11:16:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473036" "00471366" "1" "00006" "00006" "2025-12-19 18:53:19" "" "" "SEQ;SEQ-NG" "DNA" "" "solo WES" "0000473037" "00471367" "1" "00006" "00006" "2025-12-19 18:53:19" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000474594" "00472925" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474649" "00472980" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474801" "00473132" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474874" "00473205" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474917" "00473248" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474968" "00473299" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474971" "00473302" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474980" "00473311" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475032" "00473363" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475033" "00473364" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475040" "00473371" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475054" "00473385" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475108" "00473439" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475117" "00473448" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475169" "00473500" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475253" "00473584" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ" "DNA" "" "" "0000475280" "00473611" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ" "DNA" "" "" "0000475320" "00473651" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475353" "00473684" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475387" "00473718" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475436" "00473767" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475504" "00473835" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475506" "00473837" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475564" "00473895" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475617" "00473948" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 60 "{{screeningid}}" "{{geneid}}" "0000039594" "SPG11" "0000039595" "SPG11" "0000047196" "SPG11" "0000047197" "SPG11" "0000047198" "SPG11" "0000047199" "SPG11" "0000059104" "CYP2U1" "0000059104" "CYP7B1" "0000059104" "GBA2" "0000059104" "SACS" "0000059104" "SPG11" "0000059104" "ZFYVE26" "0000059217" "CYP2U1" "0000059217" "CYP7B1" "0000059217" "GBA2" "0000059217" "SACS" "0000059217" "SPG11" "0000059217" "ZFYVE26" "0000059251" "SPG11" "0000059252" "SPG11" "0000059253" "SPG11" "0000059254" "SPG11" "0000059255" "SPG11" "0000059256" "SPG11" "0000059257" "SPG11" "0000059258" "SPG11" "0000059259" "SPG11" "0000059260" "SPG11" "0000059261" "SPG11" "0000059262" "SPG11" "0000059263" "SPG11" "0000081191" "SPG11" "0000151017" "SPG11" "0000275218" "SPG11" "0000319185" "SPG11" "0000326094" "EIF2C1" "0000373993" "SPG11" "0000375702" "SPG11" "0000375703" "SPG11" "0000375704" "SPG11" "0000375705" "SPG11" "0000375905" "DIAPH3" "0000405127" "SPG11" "0000405135" "SPG11" "0000405147" "SPG11" "0000405161" "SPG11" "0000405163" "SPG11" "0000405286" "SPG11" "0000405287" "SPG11" "0000405289" "SPG11" "0000405297" "SPG11" "0000405300" "SPG11" "0000405336" "SPG11" "0000405337" "SPG11" "0000405338" "SPG11" "0000405339" "SPG11" "0000405340" "SPG11" "0000433971" "SPG11" "0000436682" "SPG11" "0000444089" "SPG11" ## 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 = 517 "{{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}}" "0000067195" "0" "50" "15" "44914964" "44914964" "subst" "0" "01330" "SPG11_000001" "g.44914964A>G" "" "" "" "" "Homozygous state" "Germline" "?" "" "0" "" "" "g.44622766A>G" "" "VUS" "" "0000067196" "1" "70" "15" "44876408" "44876408" "subst" "8.12354E-6" "01330" "SPG11_000002" "g.44876408G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.44584210G>A" "" "likely pathogenic" "" "0000067197" "2" "50" "15" "44876497" "44876497" "subst" "4.89177E-5" "01330" "SPG11_000003" "g.44876497A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.44584299A>G" "" "VUS" "" "0000075866" "1" "57" "15" "44955591" "44955591" "subst" "0" "01330" "SPG11_000004" "g.44955591C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44663393C>T" "" "VUS" "" "0000075867" "1" "57" "15" "44888407" "44888408" "del" "3.65592E-5" "01330" "SPG11_000005" "g.44888407_44888408del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44596209_44596210del" "" "VUS" "" "0000075868" "1" "57" "15" "44876408" "44876408" "subst" "8.12354E-6" "01330" "SPG11_000002" "g.44876408G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44584210G>A" "" "VUS" "" "0000075869" "1" "57" "15" "44858195" "44858195" "subst" "1.22053E-5" "01330" "SPG11_000006" "g.44858195G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44565997G>A" "" "VUS" "" "0000090050" "3" "90" "15" "44862851" "44862851" "subst" "0" "01552" "SPG11_000009" "g.44862851C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.44570653C>A" "" "pathogenic" "" "0000090056" "3" "90" "15" "44859668" "44859668" "del" "0" "01552" "SPG11_000008" "g.44859668del" "" "" "" "" "variant absent in one patient with different phenotype (mental impairment, no spasticity)" "Germline" "yes" "" "0" "" "" "g.44567470del" "" "pathogenic" "" "0000090058" "3" "90" "15" "44892783" "44892783" "subst" "0" "01552" "SPG11_000007" "g.44892783T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.44600585T>A" "" "pathogenic" "" "0000090115" "3" "90" "15" "44862196" "44870518" "del" "0" "01500" "SPG11_000010" "g.44862196_44870518del" "" "resubmitted as Güther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44569998_44578320del" "" "pathogenic" "" "0000090116" "1" "90" "15" "44913774" "44924826" "del" "0" "01500" "SPG11_000012" "g.44913774_44924826del" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44621576_44632628del" "" "pathogenic" "" "0000090117" "2" "90" "15" "44907756" "44907756" "del" "0" "01500" "SPG11_000011" "g.44907756del" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44615558del" "" "pathogenic" "" "0000090118" "1" "90" "15" "44862196" "44870518" "del" "0" "01500" "SPG11_000010" "g.44862196_44870518del" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44569998_44578320del" "" "pathogenic" "" "0000090119" "2" "90" "15" "44858471" "44858471" "subst" "4.06355E-6" "01500" "SPG11_000013" "g.44858471G>A" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44566273G>A" "" "pathogenic" "" "0000090120" "1" "90" "15" "44877680" "44878721" "del" "0" "01500" "SPG11_000014" "g.44877680_44878721del" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44585482_44586523del" "" "pathogenic" "" "0000090121" "2" "90" "15" "44943870" "44943870" "dup" "0" "01500" "SPG11_000015" "g.44943870dup" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44651672dup" "" "pathogenic" "" "0000090122" "0" "90" "15" "44877525" "44883907" "dup" "0" "01500" "SPG11_000016" "g.44877525_44883907dup" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44585327_44591709dup" "" "pathogenic" "" "0000090123" "1" "90" "15" "44877525" "44883907" "dup" "0" "01500" "SPG11_000016" "g.44877525_44883907dup" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44585327_44591709dup" "" "pathogenic" "" "0000090124" "2" "90" "15" "44907612" "44907614" "del" "0" "01500" "SPG11_000017" "g.44907612_44907614del" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "2987_2989delGTT" "" "Germline" "" "" "0" "" "" "g.44615414_44615416del" "" "pathogenic" "" "0000090125" "1" "90" "15" "44877542" "44878597" "del" "0" "01500" "SPG11_000018" "g.44877542_44878597del" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44585344_44586399del" "" "pathogenic" "" "0000090126" "2" "90" "15" "44905705" "44905705" "dup" "0" "01500" "SPG11_000019" "g.44905705dup" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44613507dup" "" "pathogenic" "" "0000090127" "1" "90" "15" "44862196" "44870518" "del" "0" "01500" "SPG11_000010" "g.44862196_44870518del" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44569998_44578320del" "" "pathogenic" "" "0000090128" "2" "90" "15" "44943910" "44943910" "subst" "4.06164E-6" "01500" "SPG11_000020" "g.44943910G>C" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44651712G>C" "" "pathogenic" "" "0000090129" "1" "90" "15" "44862196" "44870518" "del" "0" "01500" "SPG11_000010" "g.44862196_44870518del" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44569998_44578320del" "" "pathogenic" "" "0000090130" "2" "90" "15" "44905705" "44905705" "dup" "0" "01500" "SPG11_000019" "g.44905705dup" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44613507dup" "" "pathogenic" "" "0000090131" "1" "90" "15" "44862196" "44870518" "del" "0" "01500" "SPG11_000010" "g.44862196_44870518del" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44569998_44578320del" "" "pathogenic" "" "0000090132" "2" "90" "15" "44949428" "44949429" "del" "6.49783E-5" "01500" "SPG11_000021" "g.44949428_44949429del" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "733_734delAT" "" "Germline" "" "" "0" "" "" "g.44657230_44657231del" "" "pathogenic" "" "0000090133" "2" "90" "15" "44877525" "44883907" "dup" "0" "01500" "SPG11_000016" "g.44877525_44883907dup" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44585327_44591709dup" "" "pathogenic" "" "0000090134" "1" "90" "15" "44920983" "44920983" "subst" "2.44101E-5" "01500" "SPG11_000023" "g.44920983G>A" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44628785G>A" "" "pathogenic" "" "0000090135" "1" "90" "15" "44856482" "44859191" "del" "0" "01500" "SPG11_000022" "g.44856482_44859191del" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44564284_44566993del" "" "pathogenic" "" "0000090136" "2" "90" "15" "44905705" "44905705" "dup" "0" "01500" "SPG11_000019" "g.44905705dup" "" "submitted as Günther et al. to Human Mutation in March 2016" "" "" "" "Germline" "" "" "0" "" "" "g.44613507dup" "" "pathogenic" "" "0000130277" "3" "90" "15" "44905652" "44905652" "subst" "8.12572E-6" "01758" "SPG11_000024" "g.44905652G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.44613454G>A" "" "pathogenic" "ACMG" "0000237847" "3" "90" "15" "44888319" "44888319" "subst" "0" "01807" "SPG11_000025" "g.44888319G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44596121G>A" "" "pathogenic" "" "0000244176" "3" "90" "15" "44876704" "44876704" "del" "0" "00006" "SPG11_000026" "g.44876704del" "" "{PMID:Karaca 2015:26539891}" "" "NM_001160227: c.5175delA; p.Q1725fs" "" "Germline" "" "" "0" "" "" "g.44584506del" "" "pathogenic" "" "0000247310" "0" "10" "15" "44925740" "44925740" "subst" "0.0111016" "02330" "SPG11_000085" "g.44925740A>C" "" "" "" "SPG11(NM_025137.4):c.1698T>G (p.D566E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44633542A>C" "" "benign" "" "0000247316" "0" "10" "15" "44943757" "44943757" "subst" "0.467685" "02330" "SPG11_000088" "g.44943757A>G" "" "" "" "SPG11(NM_025137.4):c.1388T>C (p.F463S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651559A>G" "" "benign" "" "0000248296" "0" "10" "15" "44943757" "44943757" "subst" "0.467685" "02325" "SPG11_000088" "g.44943757A>G" "" "" "" "SPG11(NM_025137.4):c.1388T>C (p.F463S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651559A>G" "" "benign" "" "0000249397" "0" "30" "15" "44862732" "44862732" "subst" "0" "02325" "SPG11_000043" "g.44862732A>G" "" "" "" "SPG11(NM_025137.4):c.6468T>C (p.Y2156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44570534A>G" "" "likely benign" "" "0000249398" "0" "30" "15" "44876082" "44876082" "subst" "8.53027E-5" "02325" "SPG11_000047" "g.44876082A>G" "" "" "" "SPG11(NM_025137.4):c.5796T>C (p.(His1932=), p.H1932=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44583884A>G" "" "likely benign" "" "0000249435" "0" "30" "15" "44891002" "44891002" "subst" "1.2194E-5" "02325" "SPG11_000067" "g.44891002A>G" "" "" "" "SPG11(NM_025137.4):c.3719T>C (p.I1240T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44598804A>G" "" "likely benign" "" "0000249444" "0" "30" "15" "44918698" "44918698" "subst" "9.37108E-5" "02325" "SPG11_000084" "g.44918698A>G" "" "" "" "SPG11(NM_025137.4):c.2075T>C (p.I692T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44626500A>G" "" "likely benign" "" "0000250016" "0" "10" "15" "44925740" "44925740" "subst" "0.0111016" "02329" "SPG11_000085" "g.44925740A>C" "" "" "" "SPG11(NM_025137.4):c.1698T>G (p.D566E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44633542A>C" "" "benign" "" "0000250031" "0" "10" "15" "44943757" "44943757" "subst" "0.467685" "02329" "SPG11_000088" "g.44943757A>G" "" "" "" "SPG11(NM_025137.4):c.1388T>C (p.F463S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651559A>G" "" "benign" "" "0000250317" "0" "30" "15" "44898257" "44898257" "subst" "0.000394075" "02329" "SPG11_000069" "g.44898257A>G" "" "" "" "SPG11(NM_025137.3):c.3486T>C (p.F1162=), SPG11(NM_025137.4):c.3486T>C (p.F1162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44606059A>G" "" "likely benign" "" "0000250536" "0" "50" "15" "44887474" "44887474" "subst" "0" "02329" "SPG11_000059" "g.44887474A>C" "" "" "" "SPG11(NM_025137.4):c.4618T>G (p.F1540V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44595276A>C" "" "VUS" "" "0000250876" "0" "10" "15" "44925740" "44925740" "subst" "0.0111016" "02326" "SPG11_000085" "g.44925740A>C" "" "" "" "SPG11(NM_025137.4):c.1698T>G (p.D566E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44633542A>C" "" "benign" "" "0000251074" "0" "10" "15" "44881546" "44881546" "subst" "0.00211286" "02326" "SPG11_000054" "g.44881546A>G" "" "" "" "SPG11(NM_025137.4):c.4810T>C (p.F1604L, p.(Phe1604Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44589348A>G" "" "benign" "" "0000251113" "0" "10" "15" "44889073" "44889073" "subst" "2.437E-5" "02326" "SPG11_000062" "g.44889073A>G" "" "" "" "SPG11(NM_025137.4):c.4070T>C (p.L1357P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44596875A>G" "" "benign" "" "0000251582" "0" "10" "15" "44888270" "44888270" "subst" "0.00104514" "02326" "SPG11_000060" "g.44888270A>G" "" "" "" "SPG11(NM_025137.4):c.4434+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44596072A>G" "" "benign" "" "0000252244" "0" "30" "15" "44881618" "44881618" "subst" "0.00124022" "02326" "SPG11_000056" "g.44881618A>G" "" "" "" "SPG11(NM_025137.3):c.4744-6T>C, SPG11(NM_025137.4):c.4744-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44589420A>G" "" "likely benign" "" "0000253886" "0" "10" "15" "44952826" "44952826" "del" "0" "01943" "SPG11_000099" "g.44952826del" "" "" "" "SPG11(NM_001160227.1):c.258-6delT (p.(=)), SPG11(NM_025137.3):c.258-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44660628del" "" "benign" "" "0000254499" "0" "30" "15" "44952632" "44952632" "subst" "1.22056E-5" "01943" "SPG11_000096" "g.44952632A>G" "" "" "" "SPG11(NM_025137.3):c.440T>C (p.I147T), SPG11(NM_025137.4):c.440T>C (p.I147T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44660434A>G" "" "likely benign" "" "0000296126" "0" "10" "15" "44944037" "44944037" "subst" "0.0173786" "02330" "SPG11_000093" "g.44944037C>T" "" "" "" "SPG11(NM_001160227.1):c.1108G>A (p.(Glu370Lys)), SPG11(NM_025137.4):c.1108G>A (p.E370K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651839C>T" "" "benign" "" "0000296127" "0" "50" "15" "44943907" "44943907" "subst" "0" "02330" "SPG11_000091" "g.44943907C>T" "" "" "" "SPG11(NM_025137.4):c.1238G>A (p.W413*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651709C>T" "" "VUS" "" "0000296128" "0" "10" "15" "44918690" "44918690" "subst" "0.0131374" "02330" "SPG11_000083" "g.44918690C>T" "" "" "" "SPG11(NM_025137.4):c.2083G>A (p.A695T, p.(Ala695Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44626492C>T" "" "benign" "" "0000296129" "0" "10" "15" "44914164" "44914164" "del" "0" "02330" "SPG11_000081" "g.44914164del" "" "" "" "SPG11(NM_025137.4):c.2445-20delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44621966del" "" "benign" "" "0000296130" "0" "10" "15" "44907562" "44907562" "subst" "0.0102482" "02330" "SPG11_000074" "g.44907562T>C" "" "" "" "SPG11(NM_025137.4):c.3037A>G (p.K1013E, p.(Lys1013Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44615364T>C" "" "benign" "" "0000296131" "0" "50" "15" "44858173" "44858173" "subst" "0.000121983" "02330" "SPG11_000033" "g.44858173C>T" "" "" "" "SPG11(NM_025137.3):c.6878G>A (p.R2293Q), SPG11(NM_025137.4):c.6878G>A (p.R2293Q, p.(Arg2293Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44565975C>T" "" "VUS" "" "0000298455" "0" "10" "15" "44918690" "44918690" "subst" "0.0131374" "02325" "SPG11_000083" "g.44918690C>T" "" "" "" "SPG11(NM_025137.4):c.2083G>A (p.A695T, p.(Ala695Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44626492C>T" "" "benign" "" "0000298456" "0" "30" "15" "44914962" "44914962" "subst" "3.25203E-5" "02325" "SPG11_000082" "g.44914962G>A" "" "" "" "SPG11(NM_025137.4):c.2280C>T (p.C760=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44622764G>A" "" "likely benign" "" "0000298457" "0" "30" "15" "44907702" "44907702" "subst" "0.000170693" "02325" "SPG11_000076" "g.44907702C>T" "" "" "" "SPG11(NM_025137.3):c.2897G>A (p.R966H), SPG11(NM_025137.4):c.2897G>A (p.R966H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44615504C>T" "" "likely benign" "" "0000298458" "0" "10" "15" "44907562" "44907562" "subst" "0.0102482" "02325" "SPG11_000074" "g.44907562T>C" "" "" "" "SPG11(NM_025137.4):c.3037A>G (p.K1013E, p.(Lys1013Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44615364T>C" "" "benign" "" "0000298459" "0" "50" "15" "44905678" "44905678" "subst" "3.25045E-5" "02325" "SPG11_000072" "g.44905678G>A" "" "" "" "SPG11(NM_025137.4):c.3095C>T (p.P1032L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44613480G>A" "" "VUS" "" "0000298460" "0" "30" "15" "44903064" "44903064" "subst" "4.06213E-6" "02325" "SPG11_000071" "g.44903064T>C" "" "" "" "SPG11(NM_025137.4):c.3265A>G (p.M1089V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44610866T>C" "" "likely benign" "" "0000298461" "0" "50" "15" "44890898" "44890898" "subst" "4.06428E-6" "02325" "SPG11_000065" "g.44890898C>G" "" "" "" "SPG11(NM_025137.4):c.3823G>C (p.A1275P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44598700C>G" "" "VUS" "" "0000298462" "0" "30" "15" "44952677" "44952677" "subst" "0.000223432" "02325" "SPG11_000097" "g.44952677C>T" "" "" "" "SPG11(NM_025137.3):c.395G>A (p.S132N), SPG11(NM_025137.4):c.395G>A (p.S132N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44660479C>T" "" "likely benign" "" "0000298464" "0" "30" "15" "44877820" "44877821" "del" "0" "02325" "SPG11_000049" "g.44877820_44877821del" "" "" "" "SPG11(NM_025137.4):c.5121+32_5121+33delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44585622_44585623del" "" "likely benign" "" "0000298465" "0" "30" "15" "44865000" "44865000" "subst" "0.00296836" "02325" "SPG11_000046" "g.44865000T>C" "" "" "" "SPG11(NM_025137.3):c.6224A>G (p.N2075S), SPG11(NM_025137.4):c.6224A>G (p.N2075S, p.(Asn2075Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44572802T>C" "" "likely benign" "" "0000298466" "0" "30" "15" "44864966" "44864966" "subst" "0.00668399" "02325" "SPG11_000045" "g.44864966C>A" "" "" "" "SPG11(NM_025137.3):c.6258G>T (p.L2086=), SPG11(NM_025137.4):c.6258G>T (p.L2086=, p.(Leu2086=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44572768C>A" "" "likely benign" "" "0000298467" "0" "30" "15" "44862705" "44862705" "subst" "9.77955E-5" "02325" "SPG11_000041" "g.44862705G>A" "" "" "" "SPG11(NM_025137.4):c.6477+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44570507G>A" "" "likely benign" "" "0000298468" "0" "10" "15" "44858522" "44858524" "del" "0" "02325" "SPG11_000039" "g.44858522_44858524del" "" "" "" "SPG11(NM_025137.4):c.6755-17_6755-15delCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44566324_44566326del" "" "benign" "" "0000299682" "0" "10" "15" "44944037" "44944037" "subst" "0.0173786" "02329" "SPG11_000093" "g.44944037C>T" "" "" "" "SPG11(NM_001160227.1):c.1108G>A (p.(Glu370Lys)), SPG11(NM_025137.4):c.1108G>A (p.E370K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651839C>T" "" "benign" "" "0000299683" "0" "30" "15" "44943897" "44943897" "subst" "4.46737E-5" "02329" "SPG11_000090" "g.44943897C>A" "" "" "" "SPG11(NM_025137.4):c.1248G>T (p.M416I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651699C>A" "" "likely benign" "" "0000299684" "0" "30" "15" "44955830" "44955830" "subst" "0.00126895" "02329" "SPG11_000104" "g.44955830C>T" "" "" "" "SPG11(NM_025137.3):c.16G>A (p.G6R), SPG11(NM_025137.4):c.16G>A (p.G6R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44663632C>T" "" "likely benign" "" "0000299685" "0" "30" "15" "44955670" "44955670" "subst" "0.00180496" "02329" "SPG11_000101" "g.44955670G>A" "" "" "" "SPG11(NM_025137.3):c.176C>T (p.A59V), SPG11(NM_025137.4):c.176C>T (p.A59V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44663472G>A" "" "likely benign" "" "0000299686" "0" "10" "15" "44918690" "44918690" "subst" "0.0131374" "02329" "SPG11_000083" "g.44918690C>T" "" "" "" "SPG11(NM_025137.4):c.2083G>A (p.A695T, p.(Ala695Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44626492C>T" "" "benign" "" "0000299688" "0" "10" "15" "44914164" "44914164" "del" "0" "02329" "SPG11_000081" "g.44914164del" "" "" "" "SPG11(NM_025137.4):c.2445-20delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44621966del" "" "benign" "" "0000299689" "0" "10" "15" "44914164" "44914164" "dup" "0" "02329" "SPG11_000080" "g.44914164dup" "" "" "" "SPG11(NM_025137.4):c.2445-20dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44621966dup" "" "benign" "" "0000299690" "0" "50" "15" "44914017" "44914017" "subst" "4.87733E-5" "02329" "SPG11_000078" "g.44914017C>T" "" "" "" "SPG11(NM_025137.4):c.2560G>A (p.A854T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44621819C>T" "" "VUS" "" "0000299691" "0" "30" "15" "44955576" "44955576" "subst" "0.000536253" "02329" "SPG11_000100" "g.44955576C>T" "" "" "" "SPG11(NM_025137.4):c.257+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44663378C>T" "" "likely benign" "" "0000299693" "0" "50" "15" "44907615" "44907615" "subst" "2.43817E-5" "02329" "SPG11_000075" "g.44907615T>C" "" "" "" "SPG11(NM_025137.4):c.2984A>G (p.Y995C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44615417T>C" "" "VUS" "" "0000299694" "0" "10" "15" "44907562" "44907562" "subst" "0.0102482" "02329" "SPG11_000074" "g.44907562T>C" "" "" "" "SPG11(NM_025137.4):c.3037A>G (p.K1013E, p.(Lys1013Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44615364T>C" "" "benign" "" "0000299695" "0" "30" "15" "44905680" "44905680" "subst" "0" "02329" "SPG11_000073" "g.44905680G>C" "" "" "" "SPG11(NM_025137.4):c.3093C>G (p.H1031Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44613482G>C" "" "likely benign" "" "0000299696" "0" "30" "15" "44952744" "44952744" "subst" "6.90445E-5" "02329" "SPG11_000098" "g.44952744T>C" "" "" "" "SPG11(NM_025137.4):c.328A>G (p.(Asn110Asp), p.N110D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44660546T>C" "" "likely benign" "" "0000299697" "0" "30" "15" "44890903" "44890903" "subst" "0.00260112" "02329" "SPG11_000066" "g.44890903T>C" "" "" "" "SPG11(NM_001160227.1):c.3818A>G (p.(Lys1273Arg)), SPG11(NM_025137.4):c.3818A>G (p.K1273R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44598705T>C" "" "likely benign" "" "0000299698" "0" "30" "15" "44889091" "44889091" "subst" "0.000568893" "02329" "SPG11_000063" "g.44889091C>T" "" "" "" "SPG11(NM_025137.4):c.4052G>A (p.R1351K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44596893C>T" "" "likely benign" "" "0000299699" "0" "30" "15" "44887440" "44887440" "subst" "1.22008E-5" "02329" "SPG11_000058" "g.44887440G>A" "" "" "" "SPG11(NM_025137.4):c.4635+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44595242G>A" "" "likely benign" "" "0000299700" "0" "30" "15" "44881603" "44881603" "subst" "0" "02329" "SPG11_000055" "g.44881603C>A" "" "" "" "SPG11(NM_025137.4):c.4753G>T (p.A1585S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44589405C>A" "" "likely benign" "" "0000299701" "0" "50" "15" "44877881" "44877881" "subst" "1.62488E-5" "02329" "SPG11_000050" "g.44877881C>T" "" "" "" "SPG11(NM_025137.4):c.5074G>A (p.V1692I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44585683C>T" "" "VUS" "" "0000299702" "0" "10" "15" "44865000" "44865000" "subst" "0.00296836" "02329" "SPG11_000046" "g.44865000T>C" "" "" "" "SPG11(NM_025137.3):c.6224A>G (p.N2075S), SPG11(NM_025137.4):c.6224A>G (p.N2075S, p.(Asn2075Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44572802T>C" "" "benign" "" "0000299703" "0" "10" "15" "44864966" "44864966" "subst" "0.00668399" "02329" "SPG11_000045" "g.44864966C>A" "" "" "" "SPG11(NM_025137.3):c.6258G>T (p.L2086=), SPG11(NM_025137.4):c.6258G>T (p.L2086=, p.(Leu2086=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44572768C>A" "" "benign" "" "0000299704" "0" "30" "15" "44864905" "44864905" "subst" "0.00223755" "02329" "SPG11_000044" "g.44864905C>T" "" "" "" "SPG11(NM_025137.3):c.6319G>A (p.V2107I), SPG11(NM_025137.4):c.6319G>A (p.V2107I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44572707C>T" "" "likely benign" "" "0000299705" "0" "10" "15" "44862714" "44862714" "del" "0" "02329" "SPG11_000042" "g.44862714del" "" "" "" "SPG11(NM_025137.4):c.6477+13delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44570516del" "" "benign" "" "0000299706" "0" "30" "15" "44859603" "44859603" "subst" "0.00467362" "02329" "SPG11_000040" "g.44859603T>C" "" "" "" "SPG11(NM_025137.4):c.6754+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44567405T>C" "" "likely benign" "" "0000299707" "0" "30" "15" "44858499" "44858499" "subst" "0.000378104" "02329" "SPG11_000037" "g.44858499G>C" "" "" "" "SPG11(NM_025137.3):c.6759C>G (p.D2253E), SPG11(NM_025137.4):c.6759C>G (p.D2253E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44566301G>C" "" "likely benign" "" "0000299708" "0" "30" "15" "44858469" "44858469" "subst" "4.06332E-6" "02329" "SPG11_000036" "g.44858469T>C" "" "" "" "SPG11(NM_025137.4):c.6789A>G (p.Q2263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44566271T>C" "" "likely benign" "" "0000299709" "0" "10" "15" "44855454" "44855454" "subst" "0.00681637" "02329" "SPG11_000028" "g.44855454C>T" "" "" "" "SPG11(NM_025137.4):c.7197G>A (p.K2399=, p.(Lys2399=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44563256C>T" "" "benign" "" "0000299710" "0" "30" "15" "44855395" "44855395" "subst" "0.00295726" "02329" "SPG11_000027" "g.44855395T>C" "" "" "" "SPG11(NM_025137.4):c.7256A>G (p.K2419R, p.(Lys2419Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44563197T>C" "" "likely benign" "" "0000302412" "0" "10" "15" "44944037" "44944037" "subst" "0.0173786" "02326" "SPG11_000093" "g.44944037C>T" "" "" "" "SPG11(NM_001160227.1):c.1108G>A (p.(Glu370Lys)), SPG11(NM_025137.4):c.1108G>A (p.E370K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651839C>T" "" "benign" "" "0000302413" "0" "10" "15" "44943797" "44943797" "subst" "0.0185108" "02326" "SPG11_000089" "g.44943797T>C" "" "" "" "SPG11(NM_025137.4):c.1348A>G (p.I450V, p.(Ile450Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651599T>C" "" "benign" "" "0000302414" "0" "10" "15" "44918690" "44918690" "subst" "0.0131374" "02326" "SPG11_000083" "g.44918690C>T" "" "" "" "SPG11(NM_025137.4):c.2083G>A (p.A695T, p.(Ala695Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44626492C>T" "" "benign" "" "0000302415" "0" "10" "15" "44955823" "44955823" "subst" "5.73521E-5" "02326" "SPG11_000103" "g.44955823G>C" "" "" "" "SPG11(NM_025137.4):c.23C>G (p.A8G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44663625G>C" "" "benign" "" "0000302416" "0" "30" "15" "44955576" "44955576" "subst" "0.000536253" "02326" "SPG11_000100" "g.44955576C>T" "" "" "" "SPG11(NM_025137.4):c.257+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44663378C>T" "" "likely benign" "" "0000302417" "0" "10" "15" "44907562" "44907562" "subst" "0.0102482" "02326" "SPG11_000074" "g.44907562T>C" "" "" "" "SPG11(NM_025137.4):c.3037A>G (p.K1013E, p.(Lys1013Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44615364T>C" "" "benign" "" "0000302418" "0" "10" "15" "44890903" "44890903" "subst" "0.00260112" "02326" "SPG11_000066" "g.44890903T>C" "" "" "" "SPG11(NM_001160227.1):c.3818A>G (p.(Lys1273Arg)), SPG11(NM_025137.4):c.3818A>G (p.K1273R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44598705T>C" "" "benign" "" "0000302419" "0" "30" "15" "44952677" "44952677" "subst" "0.000223432" "02326" "SPG11_000097" "g.44952677C>T" "" "" "" "SPG11(NM_025137.3):c.395G>A (p.S132N), SPG11(NM_025137.4):c.395G>A (p.S132N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44660479C>T" "" "likely benign" "" "0000302420" "0" "10" "15" "44955803" "44955803" "subst" "0" "02326" "SPG11_000102" "g.44955803C>T" "" "" "" "SPG11(NM_025137.4):c.43G>A (p.G15S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44663605C>T" "" "benign" "" "0000302421" "0" "30" "15" "44878032" "44878032" "subst" "0.0010325" "02326" "SPG11_000051" "g.44878032C>G" "" "" "" "SPG11(NM_025137.3):c.4923G>C (p.K1641N), SPG11(NM_025137.4):c.4923G>C (p.K1641N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44585834C>G" "" "likely benign" "" "0000302422" "0" "10" "15" "44865000" "44865000" "subst" "0.00296836" "02326" "SPG11_000046" "g.44865000T>C" "" "" "" "SPG11(NM_025137.3):c.6224A>G (p.N2075S), SPG11(NM_025137.4):c.6224A>G (p.N2075S, p.(Asn2075Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44572802T>C" "" "benign" "" "0000302423" "0" "10" "15" "44864905" "44864905" "subst" "0.00223755" "02326" "SPG11_000044" "g.44864905C>T" "" "" "" "SPG11(NM_025137.3):c.6319G>A (p.V2107I), SPG11(NM_025137.4):c.6319G>A (p.V2107I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44572707C>T" "" "benign" "" "0000302424" "0" "30" "15" "44862714" "44862714" "del" "0" "02326" "SPG11_000042" "g.44862714del" "" "" "" "SPG11(NM_025137.4):c.6477+13delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44570516del" "" "likely benign" "" "0000302425" "0" "10" "15" "44858522" "44858524" "del" "0" "02326" "SPG11_000038" "g.44858522_44858524del" "" "" "" "SPG11(NM_025137.4):c.6755-17_6755-15delCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44566324_44566326del" "" "benign" "" "0000302426" "0" "10" "15" "44858098" "44858098" "subst" "1.24177E-5" "02326" "SPG11_000031" "g.44858098C>T" "" "" "" "SPG11(NM_025137.4):c.6953G>A (p.R2318H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44565900C>T" "" "benign" "" "0000302427" "0" "90" "15" "44858055" "44858055" "subst" "0" "02326" "SPG11_000030" "g.44858055G>T" "" "" "" "SPG11(NM_025137.4):c.6996C>A (p.Y2332*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44565857G>T" "" "pathogenic" "" "0000302428" "0" "30" "15" "44856827" "44856827" "subst" "0.00139753" "02326" "SPG11_000029" "g.44856827G>A" "" "" "" "SPG11(NM_025137.3):c.7069C>T (p.L2357F, p.(Leu2357Phe)), SPG11(NM_025137.4):c.7069C>T (p.L2357F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44564629G>A" "" "likely benign" "" "0000302429" "0" "30" "15" "44855395" "44855395" "subst" "0.00295726" "02326" "SPG11_000027" "g.44855395T>C" "" "" "" "SPG11(NM_025137.4):c.7256A>G (p.K2419R, p.(Lys2419Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44563197T>C" "" "likely benign" "" "0000308777" "0" "30" "15" "44943927" "44943927" "subst" "4.06171E-6" "01943" "SPG11_000092" "g.44943927G>C" "" "" "" "SPG11(NM_025137.3):c.1218C>G (p.T406=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651729G>C" "" "likely benign" "" "0000308778" "0" "30" "15" "44941213" "44941213" "subst" "0.000126353" "01943" "SPG11_000087" "g.44941213T>C" "" "" "" "SPG11(NM_025137.3):c.1457-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44649015T>C" "" "likely benign" "" "0000308779" "0" "30" "15" "44955670" "44955670" "subst" "0.00180496" "01943" "SPG11_000101" "g.44955670G>A" "" "" "" "SPG11(NM_025137.3):c.176C>T (p.A59V), SPG11(NM_025137.4):c.176C>T (p.A59V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44663472G>A" "" "likely benign" "" "0000308780" "0" "30" "15" "44903029" "44903029" "subst" "4.06227E-6" "01943" "SPG11_000070" "g.44903029T>C" "" "" "" "SPG11(NM_025137.3):c.3291+9A>G, SPG11(NM_025137.4):c.3291+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44610831T>C" "" "likely benign" "" "0000308781" "0" "50" "15" "44892732" "44892732" "subst" "4.06174E-6" "01943" "SPG11_000068" "g.44892732G>A" "" "" "" "SPG11(NM_025137.3):c.3619C>T (p.R1207W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44600534G>A" "" "VUS" "" "0000308782" "0" "30" "15" "44888350" "44888350" "subst" "0.000113909" "01943" "SPG11_000061" "g.44888350C>G" "" "" "" "SPG11(NM_001160227.1):c.4365G>C (p.(Trp1455Cys)), SPG11(NM_025137.3):c.4365G>C (p.W1455C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44596152C>G" "" "likely benign" "" "0000308783" "0" "10" "15" "44884585" "44884585" "subst" "0.0012923" "01943" "SPG11_000057" "g.44884585T>C" "" "" "" "SPG11(NM_025137.3):c.4687A>G (p.R1563G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44592387T>C" "" "benign" "" "0000308784" "0" "50" "15" "44881467" "44881467" "subst" "0" "01943" "SPG11_000052" "g.44881467T>C" "" "" "" "SPG11(NM_025137.3):c.4889A>G (p.E1630G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44589269T>C" "" "VUS" "" "0000308785" "0" "90" "15" "44876525" "44876525" "subst" "0" "01943" "SPG11_000048" "g.44876525G>A" "" "" "" "SPG11(NM_025137.3):c.5353C>T (p.Q1785*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44584327G>A" "" "pathogenic" "" "0000308786" "0" "30" "15" "44865000" "44865000" "subst" "0.00296836" "01943" "SPG11_000046" "g.44865000T>C" "" "" "" "SPG11(NM_025137.3):c.6224A>G (p.N2075S), SPG11(NM_025137.4):c.6224A>G (p.N2075S, p.(Asn2075Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44572802T>C" "" "likely benign" "" "0000308787" "0" "30" "15" "44864966" "44864966" "subst" "0.00668399" "01943" "SPG11_000045" "g.44864966C>A" "" "" "" "SPG11(NM_025137.3):c.6258G>T (p.L2086=), SPG11(NM_025137.4):c.6258G>T (p.L2086=, p.(Leu2086=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44572768C>A" "" "likely benign" "" "0000308789" "0" "50" "15" "44858174" "44858174" "subst" "0.00063042" "01943" "SPG11_000034" "g.44858174G>A" "" "" "" "SPG11(NM_025137.3):c.6877C>T (p.R2293W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44565976G>A" "" "VUS" "" "0000308790" "0" "50" "15" "44858173" "44858173" "subst" "0.000121983" "01943" "SPG11_000033" "g.44858173C>T" "" "" "" "SPG11(NM_025137.3):c.6878G>A (p.R2293Q), SPG11(NM_025137.4):c.6878G>A (p.R2293Q, p.(Arg2293Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44565975C>T" "" "VUS" "" "0000308791" "0" "30" "15" "44858169" "44858169" "subst" "2.84613E-5" "01943" "SPG11_000032" "g.44858169G>A" "" "" "" "SPG11(NM_025137.3):c.6882C>T (p.L2294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44565971G>A" "" "likely benign" "" "0000311483" "0" "30" "15" "44949354" "44949354" "subst" "0.00604" "02325" "SPG11_000095" "g.44949354C>T" "" "" "" "SPG11(NM_025137.3):c.808G>A (p.(Val270Ile)), SPG11(NM_025137.4):c.808G>A (p.V270I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44657156C>T" "" "likely benign" "" "0000313174" "0" "10" "15" "44949354" "44949354" "subst" "0.00604" "02329" "SPG11_000095" "g.44949354C>T" "" "" "" "SPG11(NM_025137.3):c.808G>A (p.(Val270Ile)), SPG11(NM_025137.4):c.808G>A (p.V270I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44657156C>T" "" "benign" "" "0000313870" "0" "10" "15" "44949354" "44949354" "subst" "0.00604" "02326" "SPG11_000095" "g.44949354C>T" "" "" "" "SPG11(NM_025137.3):c.808G>A (p.(Val270Ile)), SPG11(NM_025137.4):c.808G>A (p.V270I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44657156C>T" "" "benign" "" "0000313871" "0" "30" "15" "44949329" "44949329" "subst" "0.0080676" "02326" "SPG11_000094" "g.44949329T>C" "" "" "" "SPG11(NM_025137.4):c.833A>G (p.N278S, p.(Asn278Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44657131T>C" "" "likely benign" "" "0000324069" "0" "50" "15" "44925833" "44925833" "subst" "0.000338646" "01804" "SPG11_000086" "g.44925833G>A" "" "" "" "SPG11(NM_001160227.1):c.1605C>T (p.(=)), SPG11(NM_025137.4):c.1605C>T (p.A535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44633635G>A" "" "VUS" "" "0000324070" "0" "50" "15" "44952826" "44952826" "del" "0" "01804" "SPG11_000099" "g.44952826del" "" "" "" "SPG11(NM_001160227.1):c.258-6delT (p.(=)), SPG11(NM_025137.3):c.258-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44660628del" "" "VUS" "" "0000338115" "0" "90" "15" "44855500" "44855500" "subst" "0.000105669" "02327" "SPG11_000105" "g.44855500C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44563302C>G" "" "pathogenic" "" "0000338118" "0" "90" "15" "44905627" "44905627" "subst" "0" "02327" "SPG11_000123" "g.44905627C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44613429C>T" "" "pathogenic" "" "0000338120" "0" "90" "15" "44914925" "44914925" "subst" "2.84574E-5" "02327" "SPG11_000127" "g.44914925C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44622727C>T" "" "pathogenic" "" "0000340100" "0" "10" "15" "44855454" "44855454" "subst" "0.00681637" "02327" "SPG11_000028" "g.44855454C>T" "" "" "" "SPG11(NM_025137.4):c.7197G>A (p.K2399=, p.(Lys2399=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44563256C>T" "" "benign" "" "0000340102" "0" "10" "15" "44900675" "44900675" "subst" "0.0356771" "02327" "SPG11_000122" "g.44900675C>T" "" "" "" "SPG11(NM_025137.4):c.3420G>A (p.L1140=, p.(Leu1140=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44608477C>T" "" "benign" "" "0000342200" "0" "90" "15" "44865850" "44865850" "subst" "4.06276E-6" "02327" "SPG11_000113" "g.44865850G>A" "" "" "" "SPG11(NM_025137.3):c.6100C>T (p.R2034*), SPG11(NM_025137.4):c.6100C>T (p.(Arg2034*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44573652G>A" "" "pathogenic" "" "0000343209" "0" "90" "15" "44920983" "44920983" "subst" "2.44101E-5" "02327" "SPG11_000023" "g.44920983G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44628785G>A" "" "pathogenic" "" "0000343627" "0" "50" "15" "44876328" "44876328" "subst" "4.06197E-6" "02327" "SPG11_000115" "g.44876328G>C" "" "" "" "SPG11(NM_001160227.1):c.5550C>G (p.(Asn1850Lys)), SPG11(NM_025137.3):c.5550C>G (p.N1850K), SPG11(NM_025137.4):c.5550C>G (p.N1850K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44584130G>C" "" "VUS" "" "0000344139" "0" "10" "15" "44925740" "44925740" "subst" "0.0111016" "02327" "SPG11_000085" "g.44925740A>C" "" "" "" "SPG11(NM_025137.4):c.1698T>G (p.D566E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44633542A>C" "" "benign" "" "0000344621" "0" "90" "15" "44876255" "44876255" "subst" "2.4374E-5" "02327" "SPG11_000114" "g.44876255G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44584057G>A" "" "pathogenic" "" "0000344861" "0" "90" "15" "44943713" "44943713" "subst" "0" "02327" "SPG11_000131" "g.44943713G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651515G>A" "" "pathogenic" "" "0000344863" "0" "50" "15" "44943710" "44943710" "subst" "0" "02327" "SPG11_000130" "g.44943710G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651512G>T" "" "VUS" "" "0000344981" "0" "90" "15" "44914431" "44914431" "subst" "1.21928E-5" "02327" "SPG11_000126" "g.44914431G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44622233G>A" "" "pathogenic" "" "0000345147" "0" "90" "15" "44887609" "44887609" "subst" "0" "02327" "SPG11_000121" "g.44887609C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44595411C>A" "" "pathogenic" "" "0000345179" "0" "50" "15" "44877834" "44877834" "subst" "0.000699095" "02327" "SPG11_000117" "g.44877834C>A" "" "" "" "SPG11(NM_025137.4):c.5121G>T (p.E1707D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44585636C>A" "" "VUS" "" "0000345386" "0" "10" "15" "44944037" "44944037" "subst" "0.0173786" "02327" "SPG11_000093" "g.44944037C>T" "" "" "" "SPG11(NM_001160227.1):c.1108G>A (p.(Glu370Lys)), SPG11(NM_025137.4):c.1108G>A (p.E370K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651839C>T" "" "benign" "" "0000346470" "0" "30" "15" "44943894" "44943894" "subst" "4.06118E-6" "02327" "SPG11_000134" "g.44943894G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651696G>A" "" "likely benign" "" "0000346604" "0" "30" "15" "44877977" "44877977" "subst" "1.21869E-5" "02327" "SPG11_000118" "g.44877977T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44585779T>C" "" "likely benign" "" "0000346985" "0" "30" "15" "44864940" "44864940" "subst" "0.000657841" "02327" "SPG11_000110" "g.44864940A>G" "" "" "" "SPG11(NM_025137.3):c.6284T>C (p.L2095S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44572742A>G" "" "likely benign" "" "0000347491" "0" "10" "15" "44855395" "44855395" "subst" "0.00295726" "02327" "SPG11_000027" "g.44855395T>C" "" "" "" "SPG11(NM_025137.4):c.7256A>G (p.K2419R, p.(Lys2419Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44563197T>C" "" "benign" "" "0000347964" "0" "10" "15" "44881546" "44881546" "subst" "0.00211286" "02327" "SPG11_000054" "g.44881546A>G" "" "" "" "SPG11(NM_025137.4):c.4810T>C (p.F1604L, p.(Phe1604Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44589348A>G" "" "benign" "" "0000348052" "0" "10" "15" "44943757" "44943757" "subst" "0.467685" "02327" "SPG11_000088" "g.44943757A>G" "" "" "" "SPG11(NM_025137.4):c.1388T>C (p.F463S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651559A>G" "" "benign" "" "0000349785" "0" "90" "15" "44944060" "44944060" "subst" "4.0831E-5" "02327" "SPG11_000136" "g.44944060C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44651862C>T" "" "pathogenic" "" "0000349864" "0" "90" "15" "44912525" "44912525" "subst" "0" "02327" "SPG11_000124" "g.44912525C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44620327C>T" "" "pathogenic" "" "0000408469" "0" "90" "15" "44865744" "44900870" "del" "0" "02947" "SPG11_000138" "g.(44865019_44865744)_(44900870_44905627)del" "" "{PMID:Giugliano 2018:30373198}" "" "g.44862731_44900870del" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000453952" "3" "90" "15" "44949383" "44949387" "del" "0" "01807" "SPG11_000139" "g.44949383_44949387del" "" "" "" "777_781delTACTT" "" "Unknown" "" "" "0" "" "" "g.44657185_44657189del" "" "pathogenic" "" "0000554348" "0" "30" "15" "44855395" "44855395" "subst" "0.00295726" "01804" "SPG11_000027" "g.44855395T>C" "" "" "" "SPG11(NM_025137.4):c.7256A>G (p.K2419R, p.(Lys2419Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44563197T>C" "" "likely benign" "" "0000554350" "0" "10" "15" "44855454" "44855454" "subst" "0.00681637" "02330" "SPG11_000028" "g.44855454C>T" "" "" "" "SPG11(NM_025137.4):c.7197G>A (p.K2399=, p.(Lys2399=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44563256C>T" "" "benign" "" "0000554351" "0" "10" "15" "44855454" "44855454" "subst" "0.00681637" "01804" "SPG11_000028" "g.44855454C>T" "" "" "" "SPG11(NM_025137.4):c.7197G>A (p.K2399=, p.(Lys2399=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44563256C>T" "" "benign" "" "0000554352" "0" "30" "15" "44855509" "44855513" "dup" "0" "01943" "EIF3J_000002" "g.44855509_44855513dup" "" "" "" "SPG11(NM_025137.3):c.7152-14_7152-10dupGTTTC, SPG11(NM_025137.4):c.7152-14_7152-10dupGTTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44563311_44563315dup" "" "likely benign" "" "0000554353" "0" "50" "15" "44856764" "44856764" "subst" "0.000207258" "02330" "EIF3J_000003" "g.44856764A>G" "" "" "" "SPG11(NM_025137.3):c.7132T>C (p.F2378L), SPG11(NM_025137.4):c.7132T>C (p.F2378L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44564566A>G" "" "VUS" "" "0000554354" "0" "50" "15" "44856764" "44856764" "subst" "0.000207258" "01943" "EIF3J_000003" "g.44856764A>G" "" "" "" "SPG11(NM_025137.3):c.7132T>C (p.F2378L), SPG11(NM_025137.4):c.7132T>C (p.F2378L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44564566A>G" "" "VUS" "" "0000554355" "0" "50" "15" "44856764" "44856764" "subst" "0.000207258" "02325" "EIF3J_000003" "g.44856764A>G" "" "" "" "SPG11(NM_025137.3):c.7132T>C (p.F2378L), SPG11(NM_025137.4):c.7132T>C (p.F2378L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44564566A>G" "" "VUS" "" "0000554356" "0" "30" "15" "44856764" "44856764" "subst" "0.000207258" "02326" "EIF3J_000003" "g.44856764A>G" "" "" "" "SPG11(NM_025137.3):c.7132T>C (p.F2378L), SPG11(NM_025137.4):c.7132T>C (p.F2378L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44564566A>G" "" "likely benign" "" "0000554357" "0" "50" "15" "44856827" "44856827" "subst" "0.00139753" "01804" "SPG11_000029" "g.44856827G>A" "" "" "" "SPG11(NM_025137.3):c.7069C>T (p.L2357F, p.(Leu2357Phe)), SPG11(NM_025137.4):c.7069C>T (p.L2357F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44564629G>A" "" "VUS" "" "0000554358" "0" "30" "15" "44856873" "44856873" "subst" "0.0204381" "02330" "EIF3J_000004" "g.44856873G>A" "" "" "" "SPG11(NM_025137.4):c.7023C>T (p.Y2341=, p.(Tyr2341=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44564675G>A" "" "likely benign" "" "0000554359" "0" "30" "15" "44856873" "44856873" "subst" "0.0204381" "01804" "EIF3J_000004" "g.44856873G>A" "" "" "" "SPG11(NM_025137.4):c.7023C>T (p.Y2341=, p.(Tyr2341=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44564675G>A" "" "likely benign" "" "0000554360" "0" "10" "15" "44856873" "44856873" "subst" "0.0204381" "02326" "EIF3J_000004" "g.44856873G>A" "" "" "" "SPG11(NM_025137.4):c.7023C>T (p.Y2341=, p.(Tyr2341=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44564675G>A" "" "benign" "" "0000554361" "0" "30" "15" "44858098" "44858098" "subst" "1.24177E-5" "02329" "SPG11_000031" "g.44858098C>T" "" "" "" "SPG11(NM_025137.4):c.6953G>A (p.R2318H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44565900C>T" "" "likely benign" "" "0000554362" "0" "50" "15" "44858101" "44858101" "subst" "8.227E-5" "02330" "EIF3J_000005" "g.44858101C>T" "" "" "" "SPG11(NM_025137.3):c.6950G>A (p.G2317D), SPG11(NM_025137.4):c.6950G>A (p.G2317D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44565903C>T" "" "VUS" "" "0000554364" "0" "30" "15" "44858121" "44858121" "subst" "0" "02329" "EIF3J_000007" "g.44858121G>A" "" "" "" "SPG11(NM_025137.4):c.6930C>T (p.N2310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44565923G>A" "" "likely benign" "" "0000554366" "0" "50" "15" "44858439" "44858440" "ins" "0" "01943" "EIF3J_000008" "g.44858439_44858440insTGT" "" "" "" "SPG11(NM_025137.3):c.6818_6819insACA (p.L2273_D2274insQ)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44566241_44566242insTGT" "" "VUS" "" "0000554368" "0" "30" "15" "44858499" "44858499" "subst" "0.000378104" "01943" "SPG11_000037" "g.44858499G>C" "" "" "" "SPG11(NM_025137.3):c.6759C>G (p.D2253E), SPG11(NM_025137.4):c.6759C>G (p.D2253E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44566301G>C" "" "likely benign" "" "0000554369" "0" "50" "15" "44861597" "44861597" "subst" "1.34153E-5" "02330" "EIF3J_000010" "g.44861597G>A" "" "" "" "SPG11(NM_025137.4):c.6584C>T (p.P2195L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44569399G>A" "" "VUS" "" "0000554370" "0" "30" "15" "44862714" "44862714" "del" "0" "02325" "SPG11_000042" "g.44862714del" "" "" "" "SPG11(NM_025137.4):c.6477+13delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44570516del" "" "likely benign" "" "0000554371" "0" "30" "15" "44862714" "44862714" "del" "0" "02330" "SPG11_000042" "g.44862714del" "" "" "" "SPG11(NM_025137.4):c.6477+13delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44570516del" "" "likely benign" "" "0000554372" "0" "30" "15" "44864905" "44864905" "subst" "0.00223755" "01943" "SPG11_000044" "g.44864905C>T" "" "" "" "SPG11(NM_025137.3):c.6319G>A (p.V2107I), SPG11(NM_025137.4):c.6319G>A (p.V2107I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44572707C>T" "" "likely benign" "" "0000554373" "0" "50" "15" "44864940" "44864940" "subst" "0.000657841" "01943" "SPG11_000110" "g.44864940A>G" "" "" "" "SPG11(NM_025137.3):c.6284T>C (p.L2095S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44572742A>G" "" "VUS" "" "0000554374" "0" "30" "15" "44865000" "44865000" "subst" "0.00296836" "02330" "SPG11_000046" "g.44865000T>C" "" "" "" "SPG11(NM_025137.3):c.6224A>G (p.N2075S), SPG11(NM_025137.4):c.6224A>G (p.N2075S, p.(Asn2075Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44572802T>C" "" "likely benign" "" "0000554375" "0" "30" "15" "44865735" "44865735" "subst" "0.00097126" "02329" "EIF3J_000011" "g.44865735G>C" "" "" "" "SPG11(NM_025137.4):c.6205+10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44573537G>C" "" "likely benign" "" "0000554376" "0" "30" "15" "44867088" "44867088" "dup" "0" "02330" "EIF3J_000012" "g.44867088dup" "" "" "" "SPG11(NM_025137.4):c.6006+15dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44574890dup" "" "likely benign" "" "0000554377" "0" "90" "15" "44867119" "44867122" "del" "0" "02326" "EIF3J_000013" "g.44867119_44867122del" "" "" "" "SPG11(NM_025137.4):c.5989_5992delCTGT (p.L1997Mfs*60)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44574921_44574924del" "" "pathogenic" "" "0000554378" "0" "50" "15" "44876328" "44876328" "subst" "4.06197E-6" "01804" "SPG11_000115" "g.44876328G>C" "" "" "" "SPG11(NM_001160227.1):c.5550C>G (p.(Asn1850Lys)), SPG11(NM_025137.3):c.5550C>G (p.N1850K), SPG11(NM_025137.4):c.5550C>G (p.N1850K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44584130G>C" "" "VUS" "" "0000554379" "0" "30" "15" "44876450" "44876450" "subst" "0" "02329" "EIF3J_000014" "g.44876450T>A" "" "" "" "SPG11(NM_025137.4):c.5428A>T (p.T1810S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44584252T>A" "" "likely benign" "" "0000554380" "0" "50" "15" "44876590" "44876590" "subst" "4.06616E-6" "01943" "EIF3J_000015" "g.44876590G>C" "" "" "" "SPG11(NM_025137.3):c.5288C>G (p.P1763R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44584392G>C" "" "VUS" "" "0000554381" "0" "30" "15" "44877822" "44877822" "subst" "0.000118793" "02329" "EIF3J_000016" "g.44877822G>C" "" "" "" "SPG11(NM_025137.4):c.5121+12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44585624G>C" "" "likely benign" "" "0000554382" "0" "50" "15" "44877834" "44877834" "subst" "0.000699095" "02325" "SPG11_000117" "g.44877834C>A" "" "" "" "SPG11(NM_025137.4):c.5121G>T (p.E1707D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44585636C>A" "" "VUS" "" "0000554383" "0" "50" "15" "44877834" "44877834" "subst" "0.000699095" "02329" "SPG11_000117" "g.44877834C>A" "" "" "" "SPG11(NM_025137.4):c.5121G>T (p.E1707D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44585636C>A" "" "VUS" "" "0000554384" "0" "50" "15" "44878005" "44878005" "subst" "0" "02325" "EIF3J_000017" "g.44878005C>G" "" "" "" "SPG11(NM_025137.4):c.4950G>C (p.K1650N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44585807C>G" "" "VUS" "" "0000554385" "0" "30" "15" "44878032" "44878032" "subst" "0.0010325" "01943" "SPG11_000051" "g.44878032C>G" "" "" "" "SPG11(NM_025137.3):c.4923G>C (p.K1641N), SPG11(NM_025137.4):c.4923G>C (p.K1641N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44585834C>G" "" "likely benign" "" "0000554387" "0" "30" "15" "44878053" "44878053" "subst" "4.88238E-5" "01943" "EIF3J_000019" "g.44878053G>A" "" "" "" "SPG11(NM_025137.3):c.4907-5C>T, SPG11(NM_025137.4):c.4907-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44585855G>A" "" "likely benign" "" "0000554388" "0" "30" "15" "44878053" "44878053" "subst" "4.88238E-5" "02329" "EIF3J_000019" "g.44878053G>A" "" "" "" "SPG11(NM_025137.3):c.4907-5C>T, SPG11(NM_025137.4):c.4907-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44585855G>A" "" "likely benign" "" "0000554389" "0" "90" "15" "44881547" "44881547" "dup" "0" "02325" "SPG11_000119" "g.44881547dup" "" "" "" "SPG11(NM_025137.4):c.4811dupT (p.L1605Pfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44589349dup" "" "pathogenic" "" "0000554390" "0" "30" "15" "44881618" "44881618" "subst" "0.00124022" "02329" "SPG11_000056" "g.44881618A>G" "" "" "" "SPG11(NM_025137.3):c.4744-6T>C, SPG11(NM_025137.4):c.4744-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44589420A>G" "" "likely benign" "" "0000554391" "0" "30" "15" "44887514" "44887514" "subst" "4.06141E-6" "01943" "EIF3J_000020" "g.44887514T>G" "" "" "" "SPG11(NM_025137.3):c.4578A>C (p.T1526=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44595316T>G" "" "likely benign" "" "0000554392" "0" "30" "15" "44888350" "44888350" "subst" "0.000113909" "01804" "SPG11_000061" "g.44888350C>G" "" "" "" "SPG11(NM_001160227.1):c.4365G>C (p.(Trp1455Cys)), SPG11(NM_025137.3):c.4365G>C (p.W1455C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44596152C>G" "" "likely benign" "" "0000554393" "0" "30" "15" "44888998" "44888998" "subst" "1.21822E-5" "02329" "EIF3J_000021" "g.44888998T>C" "" "" "" "SPG11(NM_025137.4):c.4145A>G (p.N1382S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44596800T>C" "" "likely benign" "" "0000554394" "0" "30" "15" "44890534" "44890536" "del" "0" "01804" "EIF3J_000022" "g.44890534_44890536del" "" "" "" "SPG11(NM_001160227.1):c.3930_3932del (p.(Thr1312del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44598336_44598338del" "" "likely benign" "" "0000554395" "0" "50" "15" "44890898" "44890898" "subst" "4.06428E-6" "02327" "SPG11_000065" "g.44890898C>G" "" "" "" "SPG11(NM_025137.4):c.3823G>C (p.A1275P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44598700C>G" "" "VUS" "" "0000554396" "0" "30" "15" "44890903" "44890903" "subst" "0.00260112" "01804" "SPG11_000066" "g.44890903T>C" "" "" "" "SPG11(NM_001160227.1):c.3818A>G (p.(Lys1273Arg)), SPG11(NM_025137.4):c.3818A>G (p.K1273R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44598705T>C" "" "likely benign" "" "0000554397" "0" "30" "15" "44892802" "44892802" "subst" "4.0622E-5" "02329" "EIF3J_000023" "g.44892802A>C" "" "" "" "SPG11(NM_025137.4):c.3549T>G (p.S1183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44600604A>C" "" "likely benign" "" "0000554398" "0" "10" "15" "44900675" "44900675" "subst" "0.0356771" "02330" "SPG11_000122" "g.44900675C>T" "" "" "" "SPG11(NM_025137.4):c.3420G>A (p.L1140=, p.(Leu1140=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44608477C>T" "" "benign" "" "0000554399" "0" "10" "15" "44900675" "44900675" "subst" "0.0356771" "02329" "SPG11_000122" "g.44900675C>T" "" "" "" "SPG11(NM_025137.4):c.3420G>A (p.L1140=, p.(Leu1140=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44608477C>T" "" "benign" "" "0000554401" "0" "50" "15" "44900783" "44900788" "del" "0" "02330" "EIF3J_000025" "g.44900783_44900788del" "" "" "" "SPG11(NM_025137.4):c.3312_3317delTGAAAA (p.E1105_N1106del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44608585_44608590del" "" "VUS" "" "0000554402" "0" "10" "15" "44907562" "44907562" "subst" "0.0102482" "01804" "SPG11_000074" "g.44907562T>C" "" "" "" "SPG11(NM_025137.4):c.3037A>G (p.K1013E, p.(Lys1013Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44615364T>C" "" "benign" "" "0000554403" "0" "90" "15" "44907581" "44907581" "subst" "2.84555E-5" "02327" "EIF3J_000026" "g.44907581A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44615383A>T" "" "pathogenic" "" "0000554404" "0" "50" "15" "44907702" "44907702" "subst" "0.000170693" "02330" "SPG11_000076" "g.44907702C>T" "" "" "" "SPG11(NM_025137.3):c.2897G>A (p.R966H), SPG11(NM_025137.4):c.2897G>A (p.R966H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44615504C>T" "" "VUS" "" "0000554406" "0" "30" "15" "44907712" "44907712" "subst" "0.00101614" "01943" "EIF3J_000027" "g.44907712T>G" "" "" "" "SPG11(NM_025137.3):c.2887A>C (p.R963=), SPG11(NM_025137.4):c.2887A>C (p.R963=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44615514T>G" "" "likely benign" "" "0000554407" "0" "30" "15" "44907712" "44907712" "subst" "0.00101614" "02325" "EIF3J_000027" "g.44907712T>G" "" "" "" "SPG11(NM_025137.3):c.2887A>C (p.R963=), SPG11(NM_025137.4):c.2887A>C (p.R963=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44615514T>G" "" "likely benign" "" "0000554408" "0" "30" "15" "44907712" "44907712" "subst" "0.00101614" "02329" "EIF3J_000027" "g.44907712T>G" "" "" "" "SPG11(NM_025137.3):c.2887A>C (p.R963=), SPG11(NM_025137.4):c.2887A>C (p.R963=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44615514T>G" "" "likely benign" "" "0000554409" "0" "70" "15" "44912482" "44912482" "subst" "8.12453E-6" "02330" "EIF3J_000028" "g.44912482G>A" "" "" "" "SPG11(NM_025137.4):c.2740C>T (p.Q914*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44620284G>A" "" "likely pathogenic" "" "0000554410" "0" "30" "15" "44912553" "44912553" "subst" "8.12572E-6" "01943" "EIF3J_000029" "g.44912553C>A" "" "" "" "SPG11(NM_025137.3):c.2669G>T (p.R890L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44620355C>A" "" "likely benign" "" "0000554411" "0" "30" "15" "44912566" "44912566" "subst" "0.00121891" "02330" "EIF3J_000030" "g.44912566A>G" "" "" "" "SPG11(NM_001160227.1):c.2656T>C (p.(Tyr886His)), SPG11(NM_025137.3):c.2656T>C (p.Y886H), SPG11(NM_025137.4):c.2656T>C (p.Y886H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44620368A>G" "" "likely benign" "" "0000554412" "0" "10" "15" "44912566" "44912566" "subst" "0.00121891" "01943" "EIF3J_000030" "g.44912566A>G" "" "" "" "SPG11(NM_001160227.1):c.2656T>C (p.(Tyr886His)), SPG11(NM_025137.3):c.2656T>C (p.Y886H), SPG11(NM_025137.4):c.2656T>C (p.Y886H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44620368A>G" "" "benign" "" "0000554413" "0" "30" "15" "44912566" "44912566" "subst" "0.00121891" "01804" "EIF3J_000030" "g.44912566A>G" "" "" "" "SPG11(NM_001160227.1):c.2656T>C (p.(Tyr886His)), SPG11(NM_025137.3):c.2656T>C (p.Y886H), SPG11(NM_025137.4):c.2656T>C (p.Y886H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44620368A>G" "" "likely benign" "" "0000554414" "0" "30" "15" "44912609" "44912609" "subst" "3.40278E-5" "01943" "EIF3J_000031" "g.44912609A>G" "" "" "" "SPG11(NM_025137.3):c.2621-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44620411A>G" "" "likely benign" "" "0000554415" "0" "30" "15" "44912616" "44912616" "dup" "0" "02329" "EIF3J_000032" "g.44912616dup" "" "" "" "SPG11(NM_025137.4):c.2621-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44620418dup" "" "likely benign" "" "0000554416" "0" "30" "15" "44912619" "44912619" "subst" "2.62511E-5" "02329" "EIF3J_000033" "g.44912619C>A" "" "" "" "SPG11(NM_025137.4):c.2621-18G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44620421C>A" "" "likely benign" "" "0000554417" "0" "30" "15" "44914163" "44914164" "dup" "0" "02329" "EIF3J_000034" "g.44914163_44914164dup" "" "" "" "SPG11(NM_025137.4):c.2445-21_2445-20dupAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44621965_44621966dup" "" "likely benign" "" "0000554418" "0" "10" "15" "44914164" "44914164" "dup" "0" "02330" "SPG11_000080" "g.44914164dup" "" "" "" "SPG11(NM_025137.4):c.2445-20dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44621966dup" "" "benign" "" "0000554419" "0" "30" "15" "44914444" "44914444" "subst" "0" "01943" "EIF3J_000035" "g.44914444T>C" "" "" "" "SPG11(NM_025137.3):c.2418A>G (p.E806=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44622246T>C" "" "likely benign" "" "0000554420" "0" "30" "15" "44914485" "44914485" "subst" "0.000969584" "02329" "EIF3J_000036" "g.44914485C>T" "" "" "" "SPG11(NM_025137.4):c.2377G>A (p.V793M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44622287C>T" "" "likely benign" "" "0000554421" "0" "50" "15" "44914544" "44914544" "subst" "0.000119204" "01943" "EIF3J_000037" "g.44914544A>C" "" "" "" "SPG11(NM_025137.3):c.2318T>G (p.V773G), SPG11(NM_025137.4):c.2318T>G (p.V773G, p.(Val773Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44622346A>C" "" "VUS" "" "0000554422" "0" "50" "15" "44914544" "44914544" "subst" "0.000119204" "02329" "EIF3J_000037" "g.44914544A>C" "" "" "" "SPG11(NM_025137.3):c.2318T>G (p.V773G), SPG11(NM_025137.4):c.2318T>G (p.V773G, p.(Val773Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44622346A>C" "" "VUS" "" "0000554423" "0" "30" "15" "44918589" "44918589" "subst" "0" "02329" "EIF3J_000038" "g.44918589C>T" "" "" "" "SPG11(NM_025137.4):c.2184G>A (p.L728=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44626391C>T" "" "likely benign" "" "0000554424" "0" "30" "15" "44918604" "44918604" "subst" "6.91057E-5" "02330" "EIF3J_000039" "g.44918604G>A" "" "" "" "SPG11(NM_025137.4):c.2169C>T (p.G723=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44626406G>A" "" "likely benign" "" "0000554425" "0" "10" "15" "44918690" "44918690" "subst" "0.0131374" "01804" "SPG11_000083" "g.44918690C>T" "" "" "" "SPG11(NM_025137.4):c.2083G>A (p.A695T, p.(Ala695Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44626492C>T" "" "benign" "" "0000554426" "0" "30" "15" "44920907" "44920907" "subst" "1.62621E-5" "02329" "EIF3J_000040" "g.44920907T>C" "" "" "" "SPG11(NM_025137.4):c.2027A>G (p.K676R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44628709T>C" "" "likely benign" "" "0000554427" "0" "90" "15" "44921570" "44921570" "dup" "0" "02326" "EIF3J_000041" "g.44921570dup" "" "" "" "SPG11(NM_025137.4):c.1752dupA (p.P585Tfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44629372dup" "" "pathogenic" "" "0000554428" "0" "30" "15" "44925833" "44925833" "subst" "0.000338646" "02329" "SPG11_000086" "g.44925833G>A" "" "" "" "SPG11(NM_001160227.1):c.1605C>T (p.(=)), SPG11(NM_025137.4):c.1605C>T (p.A535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44633635G>A" "" "likely benign" "" "0000554429" "0" "50" "15" "44941108" "44941108" "subst" "0.000195022" "01943" "EIF3J_000042" "g.44941108G>A" "" "" "" "SPG11(NM_025137.3):c.1558C>T (p.L520F), SPG11(NM_025137.4):c.1558C>T (p.L520F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44648910G>A" "" "VUS" "" "0000554430" "0" "50" "15" "44941137" "44941137" "subst" "4.06345E-6" "01804" "EIF3J_000043" "g.44941137C>T" "" "" "" "SPG11(NM_001160227.1):c.1529G>A (p.(Ser510Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44648939C>T" "" "VUS" "" "0000554431" "0" "50" "15" "44943761" "44943761" "subst" "0.000109656" "02330" "EIF3J_000044" "g.44943761A>G" "" "" "" "SPG11(NM_025137.4):c.1384T>C (p.C462R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44651563A>G" "" "VUS" "" "0000554432" "0" "30" "15" "44943869" "44943869" "subst" "4.06105E-6" "02329" "EIF3J_000045" "g.44943869C>T" "" "" "" "SPG11(NM_025137.4):c.1276G>A (p.E426K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44651671C>T" "" "likely benign" "" "0000554433" "0" "30" "15" "44944037" "44944037" "subst" "0.0173786" "01804" "SPG11_000093" "g.44944037C>T" "" "" "" "SPG11(NM_001160227.1):c.1108G>A (p.(Glu370Lys)), SPG11(NM_025137.4):c.1108G>A (p.E370K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44651839C>T" "" "likely benign" "" "0000554434" "0" "10" "15" "44944341" "44944341" "subst" "0.00847719" "02330" "EIF3J_000046" "g.44944341G>A" "" "" "" "SPG11(NM_025137.4):c.993C>T (p.S331=, p.(Ser331=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44652143G>A" "" "benign" "" "0000554435" "0" "30" "15" "44944341" "44944341" "subst" "0.00847719" "02329" "EIF3J_000046" "g.44944341G>A" "" "" "" "SPG11(NM_025137.4):c.993C>T (p.S331=, p.(Ser331=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44652143G>A" "" "likely benign" "" "0000554436" "0" "10" "15" "44949329" "44949329" "subst" "0.0080676" "02330" "SPG11_000094" "g.44949329T>C" "" "" "" "SPG11(NM_025137.4):c.833A>G (p.N278S, p.(Asn278Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44657131T>C" "" "benign" "" "0000554437" "0" "30" "15" "44949329" "44949329" "subst" "0.0080676" "02329" "SPG11_000094" "g.44949329T>C" "" "" "" "SPG11(NM_025137.4):c.833A>G (p.N278S, p.(Asn278Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44657131T>C" "" "likely benign" "" "0000554438" "0" "10" "15" "44949354" "44949354" "subst" "0.00604" "02330" "SPG11_000095" "g.44949354C>T" "" "" "" "SPG11(NM_025137.3):c.808G>A (p.(Val270Ile)), SPG11(NM_025137.4):c.808G>A (p.V270I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44657156C>T" "" "benign" "" "0000554439" "0" "50" "15" "44949383" "44949383" "subst" "0" "02330" "EIF3J_000047" "g.44949383G>T" "" "" "" "SPG11(NM_025137.4):c.779C>A (p.T260N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44657185G>T" "" "VUS" "" "0000554440" "0" "90" "15" "44949428" "44949429" "del" "6.49783E-5" "02325" "SPG11_000021" "g.44949428_44949429del" "" "" "" "SPG11(NM_025137.4):c.733_734del (p.(Met245ValfsTer2)), SPG11(NM_025137.4):c.733_734delAT (p.M245Vfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44657230_44657231del" "" "pathogenic" "" "0000554442" "0" "30" "15" "44952677" "44952677" "subst" "0.000223432" "02329" "SPG11_000097" "g.44952677C>T" "" "" "" "SPG11(NM_025137.3):c.395G>A (p.S132N), SPG11(NM_025137.4):c.395G>A (p.S132N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44660479C>T" "" "likely benign" "" "0000554443" "0" "50" "15" "44952794" "44952794" "subst" "4.87413E-5" "02330" "EIF3J_000049" "g.44952794C>T" "" "" "" "SPG11(NM_025137.4):c.278G>A (p.R93H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44660596C>T" "" "VUS" "" "0000554444" "0" "30" "15" "44955572" "44955572" "subst" "0.000822481" "02329" "EIF3J_000050" "g.44955572T>C" "" "" "" "SPG11(NM_025137.4):c.257+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44663374T>C" "" "likely benign" "" "0000554445" "0" "30" "15" "44955823" "44955823" "subst" "5.73521E-5" "02330" "SPG11_000103" "g.44955823G>C" "" "" "" "SPG11(NM_025137.4):c.23C>G (p.A8G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44663625G>C" "" "likely benign" "" "0000554446" "0" "50" "15" "44955830" "44955830" "subst" "0.00126895" "02330" "SPG11_000104" "g.44955830C>T" "" "" "" "SPG11(NM_025137.3):c.16G>A (p.G6R), SPG11(NM_025137.4):c.16G>A (p.G6R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44663632C>T" "" "VUS" "" "0000554447" "0" "30" "15" "44955830" "44955830" "subst" "0.00126895" "01943" "SPG11_000104" "g.44955830C>T" "" "" "" "SPG11(NM_025137.3):c.16G>A (p.G6R), SPG11(NM_025137.4):c.16G>A (p.G6R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44663632C>T" "" "likely benign" "" "0000615318" "0" "50" "15" "44855395" "44855396" "dup" "0" "02330" "EIF3J_000051" "g.44855395_44855396dup" "" "" "" "SPG11(NM_025137.4):c.7255_7256dupAA (p.F2420Sfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44563197_44563198dup" "" "VUS" "" "0000615319" "0" "50" "15" "44855492" "44855494" "del" "0" "02325" "EIF3J_000052" "g.44855492_44855494del" "" "" "" "SPG11(NM_025137.4):c.7161_7163delACA (p.Q2387del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44563294_44563296del" "" "VUS" "" "0000615320" "0" "50" "15" "44856827" "44856827" "subst" "0.00139753" "01943" "SPG11_000029" "g.44856827G>A" "" "" "" "SPG11(NM_025137.3):c.7069C>T (p.L2357F, p.(Leu2357Phe)), SPG11(NM_025137.4):c.7069C>T (p.L2357F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44564629G>A" "" "VUS" "" "0000615321" "0" "30" "15" "44856872" "44856872" "subst" "0" "02329" "EIF3J_000053" "g.44856872C>G" "" "" "" "SPG11(NM_025137.4):c.7024G>C (p.D2342H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44564674C>G" "" "likely benign" "" "0000615322" "0" "30" "15" "44858515" "44858515" "del" "0" "02329" "EIF3J_000054" "g.44858515del" "" "" "" "SPG11(NM_025137.4):c.6755-10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44566317del" "" "likely benign" "" "0000615323" "0" "10" "15" "44859603" "44859603" "subst" "0.00467362" "02330" "SPG11_000040" "g.44859603T>C" "" "" "" "SPG11(NM_025137.4):c.6754+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44567405T>C" "" "benign" "" "0000615324" "0" "30" "15" "44859744" "44859744" "subst" "0.000844821" "02326" "EIF3J_000055" "g.44859744C>T" "" "" "" "SPG11(NM_025137.3):c.6632G>A (p.R2211H), SPG11(NM_025137.4):c.6632G>A (p.R2211H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44567546C>T" "" "likely benign" "" "0000615325" "0" "50" "15" "44862790" "44862790" "subst" "4.47602E-5" "01943" "EIF3J_000056" "g.44862790C>T" "" "" "" "SPG11(NM_025137.3):c.6410G>A (p.R2137Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44570592C>T" "" "VUS" "" "0000615326" "0" "50" "15" "44877834" "44877834" "subst" "0.000699095" "02326" "SPG11_000117" "g.44877834C>A" "" "" "" "SPG11(NM_025137.4):c.5121G>T (p.E1707D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44585636C>A" "" "VUS" "" "0000615327" "0" "50" "15" "44887531" "44887531" "subst" "1.21841E-5" "02330" "EIF3J_000058" "g.44887531A>G" "" "" "" "SPG11(NM_025137.4):c.4561T>C (p.S1521P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44595333A>G" "" "VUS" "" "0000615328" "0" "30" "15" "44889117" "44889117" "subst" "0.000589206" "02329" "EIF3J_000060" "g.44889117T>C" "" "" "" "SPG11(NM_025137.4):c.4026A>G (p.Q1342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44596919T>C" "" "likely benign" "" "0000615329" "0" "50" "15" "44914544" "44914544" "subst" "0.000119204" "02330" "EIF3J_000037" "g.44914544A>C" "" "" "" "SPG11(NM_025137.3):c.2318T>G (p.V773G), SPG11(NM_025137.4):c.2318T>G (p.V773G, p.(Val773Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44622346A>C" "" "VUS" "" "0000615330" "0" "30" "15" "44918519" "44918519" "subst" "0.000114468" "01943" "EIF3J_000063" "g.44918519C>A" "" "" "" "SPG11(NM_025137.3):c.2244+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44626321C>A" "" "likely benign" "" "0000615331" "0" "50" "15" "44941108" "44941108" "subst" "0.000195022" "02325" "EIF3J_000042" "g.44941108G>A" "" "" "" "SPG11(NM_025137.3):c.1558C>T (p.L520F), SPG11(NM_025137.4):c.1558C>T (p.L520F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44648910G>A" "" "VUS" "" "0000615332" "0" "30" "15" "44943977" "44943977" "subst" "4.47049E-5" "01804" "EIF3J_000064" "g.44943977C>T" "" "" "" "SPG11(NM_001160227.1):c.1168G>A (p.(Asp390Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44651779C>T" "" "likely benign" "" "0000615333" "0" "30" "15" "44949399" "44949399" "subst" "0.000113716" "01943" "EIF3J_000066" "g.44949399T>C" "" "" "" "SPG11(NM_025137.3):c.763A>G (p.K255E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44657201T>C" "" "likely benign" "" "0000615334" "0" "30" "15" "44952632" "44952632" "subst" "1.22056E-5" "02329" "SPG11_000096" "g.44952632A>G" "" "" "" "SPG11(NM_025137.3):c.440T>C (p.I147T), SPG11(NM_025137.4):c.440T>C (p.I147T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44660434A>G" "" "likely benign" "" "0000615336" "0" "50" "15" "44955780" "44955780" "subst" "0" "02326" "EIF3J_000068" "g.44955780C>T" "" "" "" "SPG11(NM_025137.4):c.66G>A (p.M22I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44663582C>T" "" "VUS" "" "0000615337" "0" "30" "15" "44955798" "44955798" "subst" "0" "02326" "EIF3J_000069" "g.44955798G>A" "" "" "" "SPG11(NM_025137.4):c.48C>T (p.S16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44663600G>A" "" "likely benign" "" "0000623227" "0" "30" "15" "44855509" "44855513" "dup" "0" "02329" "EIF3J_000002" "g.44855509_44855513dup" "" "" "" "SPG11(NM_025137.3):c.7152-14_7152-10dupGTTTC, SPG11(NM_025137.4):c.7152-14_7152-10dupGTTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44563311_44563315dup" "" "likely benign" "" "0000623228" "0" "30" "15" "44864966" "44864966" "subst" "0.00668399" "02330" "SPG11_000045" "g.44864966C>A" "" "" "" "SPG11(NM_025137.3):c.6258G>T (p.L2086=), SPG11(NM_025137.4):c.6258G>T (p.L2086=, p.(Leu2086=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44572768C>A" "" "likely benign" "" "0000623229" "0" "50" "15" "44876230" "44876230" "subst" "1.21844E-5" "02330" "EIF3J_000057" "g.44876230C>T" "" "" "" "SPG11(NM_025137.3):c.5648G>A (p.G1883E), SPG11(NM_025137.4):c.5648G>A (p.G1883E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44584032C>T" "" "VUS" "" "0000623230" "0" "50" "15" "44877834" "44877834" "subst" "0.000699095" "02330" "SPG11_000117" "g.44877834C>A" "" "" "" "SPG11(NM_025137.4):c.5121G>T (p.E1707D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44585636C>A" "" "VUS" "" "0000623231" "0" "30" "15" "44881618" "44881618" "subst" "0.00124022" "01943" "SPG11_000056" "g.44881618A>G" "" "" "" "SPG11(NM_025137.3):c.4744-6T>C, SPG11(NM_025137.4):c.4744-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44589420A>G" "" "likely benign" "" "0000623232" "0" "30" "15" "44888305" "44888305" "subst" "0.000253417" "02330" "EIF3J_000059" "g.44888305G>A" "" "" "" "SPG11(NM_025137.4):c.4410C>T (p.L1470=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44596107G>A" "" "likely benign" "" "0000623234" "0" "30" "15" "44900816" "44900816" "del" "0" "02330" "EIF3J_000062" "g.44900816del" "" "" "" "SPG11(NM_025137.4):c.3292-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44608618del" "" "likely benign" "" "0000623235" "0" "50" "15" "44944400" "44944400" "subst" "0" "01943" "EIF3J_000065" "g.44944400C>A" "" "" "" "SPG11(NM_025137.3):c.934G>T (p.G312C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44652202C>A" "" "VUS" "" "0000629179" "3" "90" "15" "44918611" "44918611" "dup" "0" "00006" "SPG11_000140" "g.44918611dup" "" "{PMID:Wei 2011:22216297}" "" "2163_2164insT" "" "Germline" "" "" "0" "" "" "g.44626413dup" "" "pathogenic (recessive)" "" "0000647120" "0" "50" "15" "44918698" "44918698" "subst" "9.37108E-5" "01164" "SPG11_000084" "g.44918698A>G" "" "" "" "" "no second variant detected, no copy number change in SPG11 detected" "Germline" "" "rs144012151" "0" "" "" "g.44626500A>G" "" "VUS" "ACMG" "0000649073" "1" "50" "15" "44862776" "44862776" "subst" "6.50973E-5" "03575" "SPG11_000141" "g.44862776C>T" "1/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs141035224}" "Germline" "" "rs141035224" "0" "" "" "g.44570578C>T" "" "VUS" "" "0000649074" "1" "50" "15" "44864940" "44864940" "subst" "0.000657841" "03575" "SPG11_000110" "g.44864940A>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs185665930}" "Germline" "" "rs185665930" "0" "" "" "g.44572742A>G" "" "VUS" "" "0000649075" "1" "50" "15" "44877834" "44877834" "subst" "0.000699095" "03575" "SPG11_000117" "g.44877834C>A" "6/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs145643238}" "Germline" "" "rs145643238" "0" "" "" "g.44585636C>A" "" "VUS" "" "0000649076" "1" "30" "15" "44900675" "44900675" "subst" "0.0356771" "03575" "SPG11_000122" "g.44900675C>T" "27/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "27 heterozygous, no homozygous; {DB:CLININrs36014111}" "Germline" "" "rs36014111" "0" "" "" "g.44608477C>T" "" "likely benign" "" "0000649077" "1" "10" "15" "44907562" "44907562" "subst" "0.0102482" "03575" "SPG11_000074" "g.44907562T>C" "35/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "35 heterozygous, no homozygous; {DB:CLININrs111347025}" "Germline" "" "rs111347025" "0" "" "" "g.44615364T>C" "" "benign" "" "0000649078" "1" "10" "15" "44918690" "44918690" "subst" "0.0131374" "03575" "SPG11_000083" "g.44918690C>T" "11/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 heterozygous, no homozygous; {DB:CLININrs78183930}" "Germline" "" "rs78183930" "0" "" "" "g.44626492C>T" "" "benign" "" "0000649079" "1" "50" "15" "44925740" "44925740" "subst" "0.0111016" "03575" "SPG11_000085" "g.44925740A>C" "9/2786 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 9 heterozygous, no homozygous; {DB:CLININrs79708848}" "Germline" "" "rs79708848" "0" "" "" "g.44633542A>C" "" "VUS" "" "0000649080" "1" "10" "15" "44944037" "44944037" "subst" "0.0173786" "03575" "SPG11_000093" "g.44944037C>T" "31/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "31 heterozygous, no homozygous; {DB:CLININrs77697105}" "Germline" "" "rs77697105" "0" "" "" "g.44651839C>T" "" "benign" "" "0000649081" "1" "30" "15" "44949354" "44949354" "subst" "0.00604" "03575" "SPG11_000095" "g.44949354C>T" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs80338868}" "Germline" "" "rs80338868" "0" "" "" "g.44657156C>T" "" "likely benign" "" "0000653008" "1" "10" "15" "44856873" "44856873" "subst" "0.0204381" "03575" "EIF3J_000004" "g.44856873G>A" "87/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "87 heterozygous; {DB:CLININrs80338869}" "Germline" "" "rs80338869" "0" "" "" "g.44564675G>A" "" "benign" "" "0000653357" "0" "50" "15" "44944061" "44944061" "subst" "4.08317E-6" "01164" "SPG11_000142" "g.44944061A>G" "" "" "" "" "ACMG: PM2,PP4; suspicion of HSP, daughter slightly affected, brother slightly affected, father died at early age (accident)" "Germline" "" "rs746407142" "0" "" "" "g.44651863A>G" "" "VUS" "ACMG" "0000657579" "0" "50" "15" "44876086" "44876086" "subst" "2.43718E-5" "02325" "EIF3J_000070" "g.44876086A>T" "" "" "" "SPG11(NM_025137.4):c.5792T>A (p.I1931N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44583888A>T" "" "VUS" "" "0000657580" "0" "50" "15" "44876230" "44876230" "subst" "1.21844E-5" "01943" "EIF3J_000057" "g.44876230C>T" "" "" "" "SPG11(NM_025137.3):c.5648G>A (p.G1883E), SPG11(NM_025137.4):c.5648G>A (p.G1883E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44584032C>T" "" "VUS" "" "0000657581" "0" "50" "15" "44876328" "44876328" "subst" "4.06197E-6" "01943" "SPG11_000115" "g.44876328G>C" "" "" "" "SPG11(NM_001160227.1):c.5550C>G (p.(Asn1850Lys)), SPG11(NM_025137.3):c.5550C>G (p.N1850K), SPG11(NM_025137.4):c.5550C>G (p.N1850K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44584130G>C" "" "VUS" "" "0000657582" "0" "50" "15" "44898289" "44898289" "subst" "0" "02330" "EIF3J_000071" "g.44898289A>C" "" "" "" "SPG11(NM_025137.4):c.3454T>G (p.S1152A, p.(Ser1152Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44606091A>C" "" "VUS" "" "0000657583" "0" "10" "15" "44912616" "44912616" "subst" "0.00178539" "02329" "EIF3J_000072" "g.44912616A>C" "" "" "" "SPG11(NM_025137.4):c.2621-15T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44620418A>C" "" "benign" "" "0000657584" "0" "30" "15" "44955574" "44955574" "subst" "1.81163E-5" "02329" "EIF3J_000073" "g.44955574T>C" "" "" "" "SPG11(NM_025137.4):c.257+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44663376T>C" "" "likely benign" "" "0000659576" "0" "50" "15" "44865940" "44865940" "subst" "0.000443417" "01164" "SPG11_000143" "g.44865940A>C" "" "" "" "" "" "Germline" "" "rs200220848" "0" "" "" "g.44573742A>C" "" "VUS" "ACMG" "0000659696" "0" "90" "15" "44867120" "44867120" "dup" "0" "01164" "SPG11_000144" "g.44867120dup" "" "" "" "" "ACMG grading: PVS1,PM2,PM3; Stevanin et al. 2008. Brain 131: 772" "Germline" "" "rs312262775" "0" "" "" "g.44574922dup" "" "pathogenic" "ACMG" "0000659697" "0" "90" "15" "44914431" "44914431" "subst" "1.21928E-5" "01164" "SPG11_000126" "g.44914431G>A" "" "" "" "" "ACMG grading: PVS1,PM2,PM3; Fraidakis et al. 2016. Neurodegener Dis 16: 373" "Germline" "" "rs756134516" "0" "" "" "g.44622233G>A" "" "pathogenic" "ACMG" "0000659714" "0" "90" "15" "44952629" "44952629" "subst" "0" "01164" "SPG11_000145" "g.44952629C>T" "" "" "" "" "ACMG grading: PVS1,PM2,PP3,PP5; clinically spastic paraplegia; Dup Ex 28-29 on other allele; Southgate et al. 2010. Neurogenetics 11: 379" "Germline" "" "" "0" "" "" "g.44660431C>T" "" "pathogenic" "ACMG" "0000660686" "0" "50" "15" "44890468" "44890468" "subst" "0" "01164" "SPG11_000064" "g.44890468T>C" "" "" "" "" "ACMG grading: PM2" "Germline" "" "" "0" "" "" "g.44598270T>C" "" "VUS" "ACMG" "0000664368" "0" "50" "15" "44858107" "44858107" "subst" "0.000139024" "01164" "EIF3J_000006" "g.44858107T>G" "" "" "" "" "ACMG grading: PM2,PP3\r\nno second variant detected in SPG11, no CNV in SPG11" "Germline" "" "rs200276333" "0" "" "" "g.44565909T>G" "" "VUS" "ACMG" "0000670145" "3" "10" "15" "44856873" "44856873" "subst" "0.0204381" "03575" "EIF3J_000004" "g.44856873G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs80338869}" "Germline" "" "rs80338869" "0" "" "" "g.44564675G>A" "" "benign" "" "0000674734" "0" "90" "15" "44876408" "44876408" "subst" "8.12354E-6" "01807" "SPG11_000002" "g.44876408G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000680177" "0" "30" "15" "44858101" "44858101" "subst" "8.227E-5" "01943" "EIF3J_000005" "g.44858101C>T" "" "" "" "SPG11(NM_025137.3):c.6950G>A (p.G2317D), SPG11(NM_025137.4):c.6950G>A (p.G2317D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680178" "0" "50" "15" "44859657" "44859657" "subst" "3.24929E-5" "02325" "EIF3J_000074" "g.44859657C>T" "" "" "" "SPG11(NM_025137.4):c.6719G>A (p.R2240H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680179" "0" "90" "15" "44865850" "44865850" "subst" "4.06276E-6" "01943" "SPG11_000113" "g.44865850G>A" "" "" "" "SPG11(NM_025137.3):c.6100C>T (p.R2034*), SPG11(NM_025137.4):c.6100C>T (p.(Arg2034*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000680180" "0" "10" "15" "44912616" "44912616" "subst" "0.00178539" "02330" "EIF3J_000072" "g.44912616A>C" "" "" "" "SPG11(NM_025137.4):c.2621-15T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000682857" "0" "70" "15" "44858151" "44858165" "dup" "0" "01164" "SPG11_000146" "g.44858151_44858165dup" "" "Bodda et al. 2015. J Bioanal Biomed 7: 188" "" "" "ACMG grading: PM2,PM3,PM4,PP1\r\nBrother HSP diagnosed, parents consanguin, son of uncle can not walk, clinically increased MER of the legs, no sen-mot. deficits, Babinski neg." "Germline" "" "" "0" "" "" "g.44565953_44565967dup" "" "likely pathogenic" "ACMG" "0000691798" "0" "50" "15" "44859617" "44859617" "subst" "0" "01943" "EIF3J_000075" "g.44859617C>T" "" "" "" "SPG11(NM_025137.3):c.6754+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691799" "0" "50" "15" "44859680" "44859680" "subst" "1.62468E-5" "02330" "EIF3J_000076" "g.44859680G>A" "" "" "" "SPG11(NM_025137.4):c.6696C>T (p.G2232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691800" "0" "30" "15" "44898257" "44898257" "subst" "0.000394075" "01943" "SPG11_000069" "g.44898257A>G" "" "" "" "SPG11(NM_025137.3):c.3486T>C (p.F1162=), SPG11(NM_025137.4):c.3486T>C (p.F1162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691801" "0" "50" "15" "44925771" "44925771" "subst" "0" "01943" "EIF3J_000077" "g.44925771A>G" "" "" "" "SPG11(NM_025137.3):c.1667T>C (p.F556S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691802" "0" "30" "15" "44944332" "44944332" "subst" "0" "02330" "EIF3J_000078" "g.44944332A>T" "" "" "" "SPG11(NM_025137.4):c.1002T>A (p.I334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691803" "0" "50" "15" "44949329" "44949329" "subst" "0.000182801" "02330" "EIF3J_000079" "g.44949329T>A" "" "" "" "SPG11(NM_025137.4):c.833A>T (p.N278I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691804" "0" "30" "15" "44951415" "44951415" "subst" "0" "01943" "EIF3J_000080" "g.44951415T>G" "" "" "" "SPG11(NM_025137.3):c.529A>C (p.I177L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000701849" "3" "50" "15" "44876109" "44876109" "del" "5.28082E-5" "00006" "SPG11_000147" "g.44876109del" "" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Germline" "" "" "0" "" "" "g.44583911del" "" "VUS" "" "0000708547" "3" "90" "15" "44865005" "44865009" "dup" "0" "01807" "SPG11_000148" "g.44865005_44865009dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.44572807_44572811dup" "" "pathogenic" "" "0000725104" "0" "10" "15" "44855395" "44855395" "subst" "0.00295726" "02330" "SPG11_000027" "g.44855395T>C" "" "" "" "SPG11(NM_025137.4):c.7256A>G (p.K2419R, p.(Lys2419Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725105" "0" "30" "15" "44856827" "44856827" "subst" "0.00139753" "02329" "SPG11_000029" "g.44856827G>A" "" "" "" "SPG11(NM_025137.3):c.7069C>T (p.L2357F, p.(Leu2357Phe)), SPG11(NM_025137.4):c.7069C>T (p.L2357F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725106" "0" "10" "15" "44856873" "44856873" "subst" "0.0204381" "02329" "EIF3J_000004" "g.44856873G>A" "" "" "" "SPG11(NM_025137.4):c.7023C>T (p.Y2341=, p.(Tyr2341=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725107" "0" "50" "15" "44858107" "44858107" "subst" "0.000139024" "02330" "EIF3J_000006" "g.44858107T>G" "" "" "" "SPG11(NM_025137.4):c.6944A>C (p.N2315T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725108" "0" "30" "15" "44858499" "44858499" "subst" "0.000378104" "02330" "SPG11_000037" "g.44858499G>C" "" "" "" "SPG11(NM_025137.3):c.6759C>G (p.D2253E), SPG11(NM_025137.4):c.6759C>G (p.D2253E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725109" "0" "10" "15" "44858522" "44858524" "del" "0" "02329" "SPG11_000038" "g.44858522_44858524del" "" "" "" "SPG11(NM_025137.4):c.6755-17_6755-15delCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725110" "0" "50" "15" "44859744" "44859744" "subst" "0.000844821" "02330" "EIF3J_000055" "g.44859744C>T" "" "" "" "SPG11(NM_025137.3):c.6632G>A (p.R2211H), SPG11(NM_025137.4):c.6632G>A (p.R2211H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725111" "0" "30" "15" "44859744" "44859744" "subst" "0.000844821" "01943" "EIF3J_000055" "g.44859744C>T" "" "" "" "SPG11(NM_025137.3):c.6632G>A (p.R2211H), SPG11(NM_025137.4):c.6632G>A (p.R2211H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725112" "0" "30" "15" "44859744" "44859744" "subst" "0.000844821" "02329" "EIF3J_000055" "g.44859744C>T" "" "" "" "SPG11(NM_025137.3):c.6632G>A (p.R2211H), SPG11(NM_025137.4):c.6632G>A (p.R2211H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725113" "0" "30" "15" "44861674" "44861674" "subst" "0" "02329" "EIF3J_000081" "g.44861674G>A" "" "" "" "SPG11(NM_025137.4):c.6507C>T (p.Y2169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725114" "0" "10" "15" "44864894" "44864894" "subst" "0.017816" "02329" "SPG11_000109" "g.44864894C>T" "" "" "" "SPG11(NM_025137.4):c.6330G>A (p.G2110=, p.(Gly2110=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725115" "0" "50" "15" "44865824" "44865824" "subst" "4.0622E-6" "01943" "EIF3J_000082" "g.44865824C>G" "" "" "" "SPG11(NM_025137.3):c.6126G>C (p.Q2042H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725116" "0" "70" "15" "44878043" "44878046" "dup" "0" "02329" "EIF3J_000018" "g.44878043_44878046dup" "" "" "" "SPG11(NM_025137.4):c.4909_4912dupCCAG (p.D1638Afs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000725117" "0" "50" "15" "44881576" "44881576" "subst" "4.06326E-6" "02329" "EIF3J_000083" "g.44881576G>C" "" "" "" "SPG11(NM_025137.4):c.4780C>G (p.P1594A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725118" "0" "50" "15" "44888528" "44888528" "subst" "0" "01943" "EIF3J_000084" "g.44888528C>A" "" "" "" "SPG11(NM_025137.3):c.4187G>T (p.S1396I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725119" "0" "50" "15" "44907712" "44907712" "subst" "0.00101614" "02330" "EIF3J_000027" "g.44907712T>G" "" "" "" "SPG11(NM_025137.3):c.2887A>C (p.R963=), SPG11(NM_025137.4):c.2887A>C (p.R963=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725120" "0" "10" "15" "44943797" "44943797" "subst" "0.0185108" "02329" "SPG11_000089" "g.44943797T>C" "" "" "" "SPG11(NM_025137.4):c.1348A>G (p.I450V, p.(Ile450Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725121" "0" "10" "15" "44943798" "44943798" "subst" "0.0182696" "02329" "SPG11_000133" "g.44943798G>A" "" "" "" "SPG11(NM_025137.4):c.1347C>T (p.T449=, p.(Thr449=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725122" "0" "90" "15" "44951369" "44951369" "del" "0" "02330" "EIF3J_000048" "g.44951369del" "" "" "" "SPG11(NM_025137.4):c.575delC (p.T192Nfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725123" "0" "30" "15" "44951399" "44951399" "subst" "4.06108E-6" "01943" "EIF3J_000085" "g.44951399T>A" "" "" "" "SPG11(NM_025137.3):c.545A>T (p.D182V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725124" "0" "30" "15" "44951416" "44951416" "subst" "0" "01943" "EIF3J_000086" "g.44951416A>G" "" "" "" "SPG11(NM_025137.3):c.528T>C (p.I176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725125" "0" "90" "15" "44952757" "44952757" "del" "0" "02326" "EIF3J_000087" "g.44952757del" "" "" "" "SPG11(NM_025137.4):c.315delC (p.A106Lfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000763559" "3" "70" "15" "44890569" "44890569" "subst" "3.65964E-5" "03219" "SPG11_000149" "g.44890569C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000763560" "3" "70" "15" "44890569" "44890569" "subst" "3.65964E-5" "03219" "SPG11_000149" "g.44890569C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000784673" "1" "90" "15" "44941211" "44941211" "subst" "0" "01164" "SPG11_000150" "g.44941211T>C" "" "PMID: 18067136" "" "" "NC_000015.10:g.44649013T>C/ ACMG: PVS1, PM2, PM3_SUP" "Germline" "?" "rs312262726" "" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000784674" "2" "90" "15" "44888407" "44888408" "del" "3.65592E-5" "01164" "SPG11_000005" "g.44888407_44888408del" "" "PMID: 18079167, 24482476, 18079167, 24833714" "" "" "ACMG: PVS1, PS4_MOD, PM3, PM2_SUP, PP1" "Germline" "?" "rs312262759" "0" "" "" "g.44596209_44596210del" "" "pathogenic (recessive)" "ACMG" "0000787053" "3" "90" "15" "44918627" "44918627" "subst" "4.06491E-6" "00006" "SPG11_000154" "g.44918627G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.44626429G>A" "" "pathogenic" "" "0000787054" "3" "90" "15" "44907581" "44907581" "subst" "0" "00006" "SPG11_000153" "g.44907581A>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.44615383A>C" "" "pathogenic" "" "0000787055" "3" "90" "15" "44865850" "44865850" "subst" "4.06276E-6" "00006" "SPG11_000113" "g.44865850G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.44573652G>A" "" "pathogenic" "" "0000787056" "3" "90" "15" "44858195" "44858195" "subst" "1.22053E-5" "00006" "SPG11_000006" "g.44858195G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.44565997G>A" "" "pathogenic" "" "0000787583" "1" "50" "15" "44876480" "44876480" "subst" "0" "00000" "SPG11_000152" "g.44876480G>C" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.44584282G>C" "" "VUS" "" "0000787584" "2" "50" "15" "44876296" "44876296" "subst" "0" "00000" "SPG11_000151" "g.44876296G>A" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.44584098G>A" "" "VUS" "" "0000806699" "0" "90" "15" "44856781" "44856781" "subst" "4.06322E-6" "02325" "EIF3J_000088" "g.44856781A>T" "" "" "" "SPG11(NM_025137.4):c.7115T>A (p.(Leu2372*), p.L2372*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000806700" "0" "50" "15" "44859751" "44859751" "subst" "0.000231515" "01943" "EIF3J_000089" "g.44859751G>A" "" "" "" "SPG11(NM_025137.3):c.6625C>T (p.R2209C), SPG11(NM_025137.4):c.6625C>T (p.(Arg2209Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806701" "0" "50" "15" "44876125" "44876125" "subst" "3.65559E-5" "02330" "EIF3J_000090" "g.44876125G>T" "" "" "" "SPG11(NM_025137.4):c.5753C>A (p.A1918D, p.(Ala1918Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806702" "0" "50" "15" "44903108" "44903108" "subst" "8.12506E-6" "02325" "EIF3J_000091" "g.44903108C>G" "" "" "" "SPG11(NM_025137.4):c.3221G>C (p.S1074T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806703" "0" "50" "15" "44921005" "44921005" "subst" "0" "02325" "EIF3J_000092" "g.44921005C>G" "" "" "" "SPG11(NM_025137.4):c.1929G>C (p.L643F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806704" "0" "30" "15" "44955650" "44955650" "subst" "0" "01943" "EIF3J_000093" "g.44955650G>A" "" "" "" "SPG11(NM_025137.3):c.196C>T (p.L66F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000841193" "3" "90" "15" "44943910" "44943910" "subst" "4.06164E-6" "00435" "SPG11_000020" "g.44943910G>C" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000841201" "3" "90" "15" "44941174" "44941174" "subst" "8.12962E-6" "00435" "SPG11_000155" "g.44941174G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000841213" "0" "90" "15" "44859668" "44859668" "del" "0" "00435" "SPG11_000008" "g.44859668del" "" "" "" "6709delG" "" "Germline" "yes" "" "0" "" "" "g.44567470del" "" "pathogenic (recessive)" "" "0000841235" "3" "90" "15" "44876011" "44876011" "subst" "1.21898E-5" "00435" "SPG11_000156" "g.44876011C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000841236" "3" "90" "15" "44941174" "44941174" "subst" "8.12962E-6" "00435" "SPG11_000155" "g.44941174G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000841362" "3" "90" "15" "44858195" "44858195" "subst" "1.22053E-5" "00435" "SPG11_000006" "g.44858195G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000841363" "3" "90" "15" "44858195" "44858195" "subst" "1.22053E-5" "00435" "SPG11_000006" "g.44858195G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000841365" "3" "90" "15" "44858154" "44858155" "del" "0" "00435" "SPG11_000161" "g.44858154_44858155del" "" "" "" "6898_6899delCT" "" "Germline" "yes" "" "0" "" "" "g.44565956_44565957del" "" "pathogenic (recessive)" "" "0000841375" "3" "90" "15" "44858154" "44858155" "del" "0" "00435" "SPG11_000161" "g.44858154_44858155del" "" "" "" "6898_6899delCT" "" "Germline" "yes" "" "0" "" "" "g.44565956_44565957del" "" "pathogenic (recessive)" "" "0000841378" "3" "90" "15" "44912464" "44912465" "del" "0" "00435" "SPG11_000160" "g.44912464_44912465del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.44620266_44620267del" "" "pathogenic (recessive)" "" "0000841422" "3" "90" "15" "44912464" "44912465" "del" "0" "00435" "SPG11_000160" "g.44912464_44912465del" "" "" "" "2758_2759delCT" "" "Germline" "yes" "" "0" "" "" "g.44620266_44620267del" "" "pathogenic (recessive)" "" "0000841423" "3" "90" "15" "44858154" "44858155" "del" "0" "00435" "SPG11_000161" "g.44858154_44858155del" "" "" "" "6898_6899delCT" "" "Germline" "yes" "" "0" "" "" "g.44565956_44565957del" "" "pathogenic (recessive)" "" "0000841424" "3" "90" "15" "44943931" "44943931" "subst" "2.03085E-5" "00435" "SPG11_000159" "g.44943931T>G" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000841425" "3" "90" "15" "44858195" "44858195" "subst" "1.22053E-5" "00435" "SPG11_000006" "g.44858195G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000841426" "0" "90" "15" "44876011" "44876011" "subst" "1.21898E-5" "00435" "SPG11_000156" "g.44876011C>T" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000845165" "1" "90" "15" "44865000" "44865000" "subst" "0.00296836" "00006" "SPG11_000046" "g.44865000T>C" "1/486 cases" "{PMID:Jiang 2022:33563768}" "" "N1962S" "" "Germline" "" "" "0" "" "" "g.44572802T>C" "" "pathogenic" "" "0000845166" "3" "90" "15" "44856764" "44856764" "subst" "0.000207258" "00006" "EIF3J_000003" "g.44856764A>G" "1/486 cases" "{PMID:Jiang 2022:33563768}" "" "F2265L" "" "Germline" "" "" "0" "" "" "g.44564566A>G" "" "pathogenic" "" "0000845186" "2" "90" "15" "44855496" "44855496" "subst" "0" "00006" "SPG11_000162" "g.44855496A>T" ">1/309 cases" "{PMID:Jiang 2022:33563768}" "" "Y2272X" "" "Germline" "" "" "0" "" "" "g.44563298A>T" "" "pathogenic" "" "0000847151" "1" "90" "15" "44865799" "44865799" "subst" "0" "00006" "SPG11_000163" "g.44865799C>A" "" "{PMID:Thomas 2022:34085946}" "" "" "" "Germline" "" "" "0" "" "" "g.44573601C>A" "" "pathogenic" "ACMG" "0000847178" "2" "90" "15" "44943910" "44943910" "subst" "4.06164E-6" "00006" "SPG11_000020" "g.44943910G>C" "" "{PMID:Thomas 2022:34085946}" "" "" "" "Germline" "" "" "0" "" "" "g.44651712G>C" "" "pathogenic" "" "0000854022" "0" "50" "15" "44858107" "44858107" "subst" "0.000139024" "02325" "EIF3J_000006" "g.44858107T>G" "" "" "" "SPG11(NM_025137.4):c.6944A>C (p.N2315T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854023" "0" "50" "15" "44861673" "44861675" "del" "0" "02329" "EIF3J_000094" "g.44861673_44861675del" "" "" "" "SPG11(NM_025137.4):c.6508_6510delAAC (p.N2170del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854024" "0" "50" "15" "44876328" "44876328" "subst" "4.06197E-6" "02330" "SPG11_000115" "g.44876328G>C" "" "" "" "SPG11(NM_001160227.1):c.5550C>G (p.(Asn1850Lys)), SPG11(NM_025137.3):c.5550C>G (p.N1850K), SPG11(NM_025137.4):c.5550C>G (p.N1850K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854025" "0" "30" "15" "44907702" "44907702" "subst" "0.000170693" "01943" "SPG11_000076" "g.44907702C>T" "" "" "" "SPG11(NM_025137.3):c.2897G>A (p.R966H), SPG11(NM_025137.4):c.2897G>A (p.R966H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854026" "0" "30" "15" "44912558" "44912558" "subst" "4.0627E-6" "02330" "EIF3J_000097" "g.44912558T>C" "" "" "" "SPG11(NM_025137.4):c.2664A>G (p.T888=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854027" "0" "50" "15" "44949318" "44949318" "subst" "0" "02330" "EIF3J_000098" "g.44949318C>G" "" "" "" "SPG11(NM_025137.4):c.844G>C (p.A282P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863843" "0" "10" "15" "44858522" "44858524" "del" "0" "02330" "SPG11_000038" "g.44858522_44858524del" "" "" "" "SPG11(NM_025137.4):c.6755-17_6755-15delCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863844" "0" "10" "15" "44864894" "44864894" "subst" "0.017816" "02330" "SPG11_000109" "g.44864894C>T" "" "" "" "SPG11(NM_025137.4):c.6330G>A (p.G2110=, p.(Gly2110=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863845" "0" "30" "15" "44867141" "44867141" "subst" "0" "01943" "EIF3J_000095" "g.44867141T>A" "" "" "" "SPG11(NM_025137.3):c.5965A>T (p.N1989Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863846" "0" "50" "15" "44876056" "44876056" "subst" "4.06256E-6" "02330" "EIF3J_000096" "g.44876056A>G" "" "" "" "SPG11(NM_025137.4):c.5822T>C (p.L1941P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863847" "0" "30" "15" "44898257" "44898257" "subst" "0.000394075" "02326" "SPG11_000069" "g.44898257A>G" "" "" "" "SPG11(NM_025137.3):c.3486T>C (p.F1162=), SPG11(NM_025137.4):c.3486T>C (p.F1162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863848" "0" "30" "15" "44903029" "44903029" "subst" "4.06227E-6" "02330" "SPG11_000070" "g.44903029T>C" "" "" "" "SPG11(NM_025137.3):c.3291+9A>G, SPG11(NM_025137.4):c.3291+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863849" "0" "10" "15" "44943797" "44943797" "subst" "0.0185108" "02330" "SPG11_000089" "g.44943797T>C" "" "" "" "SPG11(NM_025137.4):c.1348A>G (p.I450V, p.(Ile450Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863850" "0" "10" "15" "44943798" "44943798" "subst" "0.0182696" "02330" "SPG11_000133" "g.44943798G>A" "" "" "" "SPG11(NM_025137.4):c.1347C>T (p.T449=, p.(Thr449=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863851" "0" "30" "15" "44951409" "44951409" "subst" "8.12229E-6" "01943" "EIF3J_000099" "g.44951409G>A" "" "" "" "SPG11(NM_025137.3):c.535C>T (p.P179S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863852" "0" "30" "15" "44952677" "44952677" "subst" "0.000223432" "01943" "SPG11_000097" "g.44952677C>T" "" "" "" "SPG11(NM_025137.3):c.395G>A (p.S132N), SPG11(NM_025137.4):c.395G>A (p.S132N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863853" "0" "30" "15" "44955576" "44955576" "subst" "0.000536253" "02330" "SPG11_000100" "g.44955576C>T" "" "" "" "SPG11(NM_025137.4):c.257+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000873168" "0" "50" "15" "44856773" "44856781" "del" "0" "03208" "SPG11_000106" "g.44856773_44856781del" "" "Pennings et al. 2022, in progress" "" "NM_025137.3:c.7115_7123del" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000873169" "11" "90" "15" "44876255" "44876255" "subst" "2.4374E-5" "03208" "SPG11_000114" "g.44876255G>A" "" "Pennings et al. 2022, in progress" "" "NM_025137.4:c.5623C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000873170" "0" "90" "15" "44881545" "44881545" "dup" "0" "03208" "SPG11_000119" "g.44881545dup" "" "Pennings et al. 2022, in progress" "" "NM_025137.4:c.4811dup" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000873171" "11" "90" "15" "44905698" "44905698" "dup" "2.85314E-5" "03208" "SPG11_000019" "g.44905698dup" "" "Pennings et al. 2022, in progress" "" "NM_025137.3:c.3075dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000874099" "0" "70" "15" "44858464" "44858464" "subst" "0" "03779" "SPG11_000164" "g.44858464A>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000880113" "10" "90" "15" "44876733" "44876733" "dup" "0" "00006" "SPG11_000165" "g.44876733dup" "" "{PMID:Schalk 2022:34930816}" "" "5148dupA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.44584535dup" "" "pathogenic" "" "0000892059" "0" "50" "15" "44856827" "44856827" "subst" "0.00139753" "02330" "SPG11_000029" "g.44856827G>A" "" "" "" "SPG11(NM_025137.3):c.7069C>T (p.L2357F, p.(Leu2357Phe)), SPG11(NM_025137.4):c.7069C>T (p.L2357F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892060" "0" "90" "15" "44865859" "44865859" "subst" "0" "02329" "EIF3J_000100" "g.44865859G>A" "" "" "" "SPG11(NM_025137.4):c.6091C>T (p.R2031*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892061" "0" "90" "15" "44867119" "44867122" "del" "0" "02327" "EIF3J_000013" "g.44867119_44867122del" "" "" "" "SPG11(NM_025137.4):c.5989_5992delCTGT (p.L1997Mfs*60)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892062" "0" "50" "15" "44876029" "44876029" "subst" "0" "02325" "EIF3J_000101" "g.44876029A>C" "" "" "" "SPG11(NM_025137.4):c.5849T>G (p.L1950R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892063" "0" "50" "15" "44900775" "44900775" "subst" "0.000199164" "02330" "EIF3J_000102" "g.44900775C>G" "" "" "" "SPG11(NM_025137.4):c.3320G>C (p.C1107S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892064" "0" "30" "15" "44907712" "44907712" "subst" "0.00101614" "02326" "EIF3J_000027" "g.44907712T>G" "" "" "" "SPG11(NM_025137.3):c.2887A>C (p.R963=), SPG11(NM_025137.4):c.2887A>C (p.R963=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892065" "0" "50" "15" "44941074" "44941074" "subst" "8.1242E-6" "02325" "EIF3J_000103" "g.44941074T>A" "" "" "" "SPG11(NM_025137.4):c.1592A>T (p.(His531Leu), p.H531L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892066" "0" "90" "15" "44943797" "44943797" "dup" "0" "02329" "SPG11_000132" "g.44943797dup" "" "" "" "SPG11(NM_025137.4):c.1348dupA (p.I450Nfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892067" "0" "50" "15" "44952768" "44952768" "subst" "3.65518E-5" "02325" "EIF3J_000104" "g.44952768G>A" "" "" "" "SPG11(NM_025137.4):c.304C>T (p.P102S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000908858" "1" "70" "15" "44914558" "44914558" "subst" "1.33247E-5" "00006" "SPG11_000167" "g.44914558G>C" "" "{PMID:Bournazos 2022:34906502}" "" "" "exon skipping, cryptic splice acceptor; transcripts cycloheximide sensitive, cycloheximide sensitive" "Germline" "" "" "0" "" "" "g.44622360G>C" "" "pathogenic (recessive)" "" "0000908927" "2" "90" "15" "44876486" "44876486" "subst" "1.22171E-5" "00006" "SPG11_000166" "g.44876486C>T" "" "{PMID:Bournazos 2022:34906502}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.44584288C>T" "" "pathogenic (recessive)" "" "0000914290" "0" "10" "15" "44881546" "44881546" "subst" "0.00211286" "02330" "SPG11_000054" "g.44881546A>G" "" "" "" "SPG11(NM_025137.4):c.4810T>C (p.F1604L, p.(Phe1604Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914291" "0" "30" "15" "44898257" "44898257" "subst" "0.000394075" "02330" "SPG11_000069" "g.44898257A>G" "" "" "" "SPG11(NM_025137.3):c.3486T>C (p.F1162=), SPG11(NM_025137.4):c.3486T>C (p.F1162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914292" "0" "50" "15" "44949318" "44949318" "subst" "0" "02325" "EIF3J_000098" "g.44949318C>G" "" "" "" "SPG11(NM_025137.4):c.844G>C (p.A282P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000919623" "0" "50" "15" "44889054" "44889054" "subst" "0" "01741" "SPG11_000168" "g.44889054T>C" "" "" "" "" "no 2nd SPG11 variant (with a possible significance) detected" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "" "0000925967" "0" "30" "15" "44912616" "44912616" "subst" "0.00178539" "02326" "EIF3J_000072" "g.44912616A>C" "" "" "" "SPG11(NM_025137.4):c.2621-15T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927788" "0" "90" "15" "44921578" "44921578" "subst" "0" "01741" "SPG11_000169" "g.44921578C>A" "" "" "" "" "heterozygous variant without a second variant, patient with no clearly definable phenotype" "Germline/De novo (untested)" "" "" "0" "" "" "g.44629380C>A" "" "pathogenic" "" "0000945932" "3" "70" "15" "44894055" "44902826" "del" "0" "03312" "SPG11_000170" "g.44894055_44902826del" "" "" "" "NC 000015.9:g.44894055_44902826del" "" "Germline" "yes" "" "0" "" "" "g.44601857_44610628del" "" "pathogenic" "ACMG" "0000950349" "0" "50" "15" "44865888" "44865888" "subst" "9.75174E-5" "02330" "EIF3J_000105" "g.44865888C>T" "" "" "" "SPG11(NM_025137.3):c.6062G>A (p.(Arg2021Gln)), SPG11(NM_025137.4):c.6062G>A (p.R2021Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000958700" "0" "70" "15" "44876497" "44876497" "subst" "4.89177E-5" "00006" "SPG11_000003" "g.44876497A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.44584299A>G" "374112" "likely pathogenic (recessive)" "ACMG" "0000959125" "0" "90" "15" "44876255" "44876255" "subst" "2.4374E-5" "00006" "SPG11_000114" "g.44876255G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.44584057G>A" "1116" "pathogenic (recessive)" "ACMG" "0000967778" "0" "30" "15" "44887544" "44887544" "subst" "1.21841E-5" "02326" "EIF3J_000106" "g.44887544G>A" "" "" "" "SPG11(NM_025137.4):c.4548C>T (p.N1516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967779" "0" "10" "15" "44890903" "44890903" "subst" "0.00260112" "02330" "SPG11_000066" "g.44890903T>C" "" "" "" "SPG11(NM_001160227.1):c.3818A>G (p.(Lys1273Arg)), SPG11(NM_025137.4):c.3818A>G (p.K1273R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000967780" "0" "50" "15" "44890912" "44890912" "subst" "0" "02327" "EIF3J_000107" "g.44890912A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967783" "0" "50" "15" "44955818" "44955818" "subst" "0.000114762" "02330" "EIF3J_000108" "g.44955818C>T" "" "" "" "SPG11(NM_025137.4):c.28G>A (p.A10T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981224" "0" "30" "15" "44864966" "44864966" "subst" "0.00668399" "01804" "SPG11_000045" "g.44864966C>A" "" "" "" "SPG11(NM_025137.3):c.6258G>T (p.L2086=), SPG11(NM_025137.4):c.6258G>T (p.L2086=, p.(Leu2086=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981225" "0" "50" "15" "44887530" "44887530" "subst" "0" "01804" "EIF3J_000109" "g.44887530G>A" "" "" "" "SPG11(NM_025137.4):c.4562C>T (p.(Ser1521Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981226" "0" "50" "15" "44892756" "44892756" "subst" "0.000134032" "01804" "EIF3J_000110" "g.44892756A>C" "" "" "" "SPG11(NM_025137.4):c.3595T>G (p.(Phe1199Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981227" "0" "30" "15" "44900675" "44900675" "subst" "0.0356771" "01804" "SPG11_000122" "g.44900675C>T" "" "" "" "SPG11(NM_025137.4):c.3420G>A (p.L1140=, p.(Leu1140=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981228" "0" "50" "15" "44903168" "44903168" "subst" "4.06312E-6" "01804" "EIF3J_000111" "g.44903168A>G" "" "" "" "SPG11(NM_025137.4):c.3161T>C (p.(Phe1054Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981229" "0" "50" "15" "44912448" "44912466" "del" "0" "01804" "EIF3J_000112" "g.44912448_44912466del" "" "" "" "SPG11(NM_025137.4):c.2757_2775del (p.(Leu920ThrfsTer10))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981230" "0" "50" "15" "44914544" "44914544" "subst" "0.000119204" "01804" "EIF3J_000037" "g.44914544A>C" "" "" "" "SPG11(NM_025137.3):c.2318T>G (p.V773G), SPG11(NM_025137.4):c.2318T>G (p.V773G, p.(Val773Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981231" "0" "10" "15" "44944341" "44944341" "subst" "0.00847719" "01804" "EIF3J_000046" "g.44944341G>A" "" "" "" "SPG11(NM_025137.4):c.993C>T (p.S331=, p.(Ser331=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000981232" "0" "30" "15" "44949329" "44949329" "subst" "0.0080676" "01804" "SPG11_000094" "g.44949329T>C" "" "" "" "SPG11(NM_025137.4):c.833A>G (p.N278S, p.(Asn278Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001425" "0" "30" "15" "44859744" "44859744" "subst" "0.000844821" "02327" "EIF3J_000055" "g.44859744C>T" "" "" "" "SPG11(NM_025137.3):c.6632G>A (p.R2211H), SPG11(NM_025137.4):c.6632G>A (p.R2211H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001426" "0" "50" "15" "44865888" "44865888" "subst" "9.75174E-5" "01804" "EIF3J_000105" "g.44865888C>T" "" "" "" "SPG11(NM_025137.3):c.6062G>A (p.(Arg2021Gln)), SPG11(NM_025137.4):c.6062G>A (p.R2021Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001427" "0" "90" "15" "44914417" "44914417" "subst" "0" "02329" "EIF3J_000113" "g.44914417C>G" "" "" "" "SPG11(NM_025137.4):c.2444+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001001428" "0" "90" "15" "44914418" "44914418" "subst" "0" "02329" "EIF3J_000114" "g.44914418C>G" "" "" "" "SPG11(NM_025137.4):c.2444G>C (p.R815T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001001429" "0" "30" "15" "44949354" "44949354" "subst" "0.00604" "01804" "SPG11_000095" "g.44949354C>T" "" "" "" "SPG11(NM_025137.3):c.808G>A (p.(Val270Ile)), SPG11(NM_025137.4):c.808G>A (p.V270I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001430" "0" "50" "15" "44955802" "44955802" "subst" "0.00011059" "01804" "EIF3J_000115" "g.44955802C>T" "" "" "" "SPG11(NM_025137.3):c.44G>A (p.(Gly15Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001011884" "3" "90" "15" "44865744" "44865744" "subst" "8.12499E-6" "00006" "SPG11_000172" "g.44865744C>T" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Germline" "" "" "0" "" "" "g.44573546C>T" "SUB7797580" "pathogenic (recessive)" "" "0001011925" "1" "90" "15" "44858429" "44858430" "del" "0" "00006" "SPG11_000171" "g.44858429_44858430del" "" "{PMID:Salinas 2020:33084218}" "" "NM_001160227:c.6493_6494del" "" "Germline" "" "" "0" "" "" "g.44566231_44566232del" "SUB7801325" "pathogenic (recessive)" "" "0001011932" "3" "90" "15" "44952629" "44952629" "subst" "4.0708E-6" "00006" "SPG11_000174" "g.44952629C>G" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Germline" "" "" "0" "" "" "g.44660431C>G" "RCV000001173.5" "pathogenic (recessive)" "" "0001012001" "2" "90" "15" "44949292" "44949292" "subst" "0" "00006" "SPG11_000173" "g.44949292C>T" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Germline" "" "" "0" "" "" "g.44657094C>T" "RCV000034268.3" "pathogenic (recessive)" "" "0001015197" "0" "10" "15" "44881618" "44881618" "subst" "0.00124022" "02330" "SPG11_000056" "g.44881618A>G" "" "" "" "SPG11(NM_025137.3):c.4744-6T>C, SPG11(NM_025137.4):c.4744-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001026437" "0" "90" "15" "44858448" "44858449" "del" "0" "02325" "EIF3J_000116" "g.44858448_44858449del" "" "" "" "SPG11(NM_025137.4):c.6811_6812delCT (p.L2271Dfs*68)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026438" "0" "50" "15" "44900670" "44900670" "subst" "0.000101543" "02325" "EIF3J_000117" "g.44900670G>C" "" "" "" "SPG11(NM_025137.4):c.3425C>G (p.S1142C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040361" "0" "50" "15" "44856781" "44856781" "subst" "4.06322E-6" "01804" "EIF3J_000088" "g.44856781A>T" "" "" "" "SPG11(NM_025137.4):c.7115T>A (p.(Leu2372*), p.L2372*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040362" "0" "50" "15" "44858173" "44858173" "subst" "0.000121983" "01804" "SPG11_000033" "g.44858173C>T" "" "" "" "SPG11(NM_025137.3):c.6878G>A (p.R2293Q), SPG11(NM_025137.4):c.6878G>A (p.R2293Q, p.(Arg2293Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040363" "0" "50" "15" "44859751" "44859751" "subst" "0.000231515" "01804" "EIF3J_000089" "g.44859751G>A" "" "" "" "SPG11(NM_025137.3):c.6625C>T (p.R2209C), SPG11(NM_025137.4):c.6625C>T (p.(Arg2209Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040364" "0" "50" "15" "44861661" "44861664" "del" "0" "01804" "EIF3J_000118" "g.44861661_44861664del" "" "" "" "SPG11(NM_025137.4):c.6522_6525del (p.(Ile2175Leufs*13))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040365" "0" "50" "15" "44864974" "44864974" "subst" "2.03036E-5" "01804" "EIF3J_000119" "g.44864974G>A" "" "" "" "SPG11(NM_025137.4):c.6250C>T (p.(Leu2084Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040366" "0" "30" "15" "44865000" "44865000" "subst" "0.00296836" "01804" "SPG11_000046" "g.44865000T>C" "" "" "" "SPG11(NM_025137.3):c.6224A>G (p.N2075S), SPG11(NM_025137.4):c.6224A>G (p.N2075S, p.(Asn2075Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040367" "0" "90" "15" "44865850" "44865850" "subst" "4.06276E-6" "01804" "SPG11_000113" "g.44865850G>A" "" "" "" "SPG11(NM_025137.3):c.6100C>T (p.R2034*), SPG11(NM_025137.4):c.6100C>T (p.(Arg2034*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040368" "0" "30" "15" "44876082" "44876082" "subst" "8.53027E-5" "01804" "SPG11_000047" "g.44876082A>G" "" "" "" "SPG11(NM_025137.4):c.5796T>C (p.(His1932=), p.H1932=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040369" "0" "50" "15" "44889058" "44889058" "subst" "1.21838E-5" "01804" "EIF3J_000120" "g.44889058A>G" "" "" "" "SPG11(NM_025137.4):c.4085T>C (p.(Leu1362Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040370" "0" "50" "15" "44890913" "44890913" "subst" "0" "01804" "EIF3J_000121" "g.44890913C>T" "" "" "" "SPG11(NM_025137.4):c.3808G>A (p.(Val1270Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040371" "0" "50" "15" "44890991" "44890991" "subst" "0" "01804" "EIF3J_000122" "g.44890991A>C" "" "" "" "SPG11(NM_025137.4):c.3730T>G (p.(Ser1244Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040372" "0" "50" "15" "44892793" "44892793" "subst" "4.062E-5" "02325" "EIF3J_000123" "g.44892793G>C" "" "" "" "SPG11(NM_025137.4):c.3558C>G (p.D1186E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040373" "0" "50" "15" "44898289" "44898289" "subst" "0" "01804" "EIF3J_000071" "g.44898289A>C" "" "" "" "SPG11(NM_025137.4):c.3454T>G (p.S1152A, p.(Ser1152Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040374" "0" "30" "15" "44903029" "44903029" "subst" "4.06227E-6" "01804" "SPG11_000070" "g.44903029T>C" "" "" "" "SPG11(NM_025137.3):c.3291+9A>G, SPG11(NM_025137.4):c.3291+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040375" "0" "50" "15" "44925819" "44925819" "subst" "4.07362E-5" "01804" "EIF3J_000124" "g.44925819C>T" "" "" "" "SPG11(NM_025137.4):c.1619G>A (p.(Arg540His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040376" "0" "50" "15" "44941074" "44941074" "subst" "8.1242E-6" "01804" "EIF3J_000103" "g.44941074T>A" "" "" "" "SPG11(NM_025137.4):c.1592A>T (p.(His531Leu), p.H531L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040377" "0" "50" "15" "44941091" "44941093" "dup" "0" "01804" "EIF3J_000125" "g.44941091_44941093dup" "" "" "" "SPG11(NM_025137.4):c.1573_1575dup (p.(Arg525dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040378" "0" "90" "15" "44949428" "44949429" "del" "6.49783E-5" "01804" "SPG11_000021" "g.44949428_44949429del" "" "" "" "SPG11(NM_025137.4):c.733_734del (p.(Met245ValfsTer2)), SPG11(NM_025137.4):c.733_734delAT (p.M245Vfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001049554" "3" "90" "15" "44925739" "44925739" "subst" "0" "00006" "SPG11_000175" "g.44925739G>A" "" "{PMID:Elmas 2019:30426380}" "" "" "" "Germline" "" "" "0" "" "" "g.44633541G>A" "" "pathogenic (recessive)" "" "0001055075" "0" "30" "15" "44864894" "44864894" "subst" "0.017816" "01804" "SPG11_000109" "g.44864894C>T" "" "" "" "SPG11(NM_025137.4):c.6330G>A (p.G2110=, p.(Gly2110=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055076" "0" "50" "15" "44865783" "44865783" "subst" "4.06161E-5" "01804" "EIF3J_000126" "g.44865783T>A" "" "" "" "SPG11(NM_025137.4):c.6167A>T (p.(Glu2056Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055077" "0" "50" "15" "44876125" "44876125" "subst" "3.65559E-5" "01804" "EIF3J_000090" "g.44876125G>T" "" "" "" "SPG11(NM_025137.4):c.5753C>A (p.A1918D, p.(Ala1918Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055078" "0" "10" "15" "44881546" "44881546" "subst" "0.00211286" "01804" "SPG11_000054" "g.44881546A>G" "" "" "" "SPG11(NM_025137.4):c.4810T>C (p.F1604L, p.(Phe1604Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001055079" "0" "90" "15" "44892686" "44892687" "ins" "1.62467E-5" "01804" "EIF3J_000127" "g.44892686_44892687insA" "" "" "" "SPG11(NM_025137.4):c.3664_3665insT (p.(Lys1222Ilefs*15))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001055080" "0" "50" "15" "44907703" "44907703" "subst" "0" "01804" "EIF3J_000128" "g.44907703G>T" "" "" "" "SPG11(NM_025137.4):c.2896C>A (p.(Arg966Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055081" "0" "30" "15" "44943797" "44943797" "subst" "0.0185108" "01804" "SPG11_000089" "g.44943797T>C" "" "" "" "SPG11(NM_025137.4):c.1348A>G (p.I450V, p.(Ile450Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055082" "0" "30" "15" "44943798" "44943798" "subst" "0.0182696" "01804" "SPG11_000133" "g.44943798G>A" "" "" "" "SPG11(NM_025137.4):c.1347C>T (p.T449=, p.(Thr449=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055083" "0" "50" "15" "44952744" "44952744" "subst" "6.90445E-5" "01804" "SPG11_000098" "g.44952744T>C" "" "" "" "SPG11(NM_025137.4):c.328A>G (p.(Asn110Asp), p.N110D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055084" "0" "90" "15" "44952805" "44952805" "subst" "8.12447E-6" "02327" "EIF3J_000129" "g.44952805C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001055085" "0" "30" "15" "44955786" "44955786" "subst" "1.45831E-5" "01804" "EIF3J_000130" "g.44955786C>T" "" "" "" "SPG11(NM_025137.4):c.60G>A (p.(Ala20=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001059205" "0" "90" "15" "44955644" "44955645" "dup" "2.35405E-5" "00006" "SPG11_000176" "g.44955644_44955645dup" "" "{PMID:Retterer 2016:26633542}" "" "202_203dupTT" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.44663446_44663447dup" "" "pathogenic" "" "0001059206" "0" "90" "15" "44943797" "44943797" "dup" "0" "00006" "SPG11_000132" "g.44943797dup" "" "{PMID:Retterer 2016:26633542}" "" "1348dupA" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.44651599dup" "" "pathogenic" "" "0001060858" "0" "90" "15" "44876120" "44876121" "del" "1.21863E-5" "00006" "SPG11_000177" "g.44876120_44876121del" "" "{PMID:Horbacz 2025:41210864}" "" "" "ACMG PVS1, PM2, PP5; not in 142 controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.44583922_44583923del" "" "pathogenic" "ACMG" "0001061780" "3" "90" "15" "44876497" "44876497" "subst" "4.89177E-5" "00006" "SPG11_000003" "g.44876497A>G" "" "{PMID:Zech 2020:33098801}" "" "" "" "Germline" "" "" "0" "" "" "g.44584299A>G" "" "pathogenic (recessive)" "" "0001061781" "3" "90" "15" "44888407" "44888408" "del" "3.65592E-5" "00006" "SPG11_000005" "g.44888407_44888408del" "" "{PMID:Zech 2020:33098801}" "" "4307_4308delAA" "" "Germline" "" "" "0" "" "" "g.44596209_44596210del" "" "pathogenic (recessive)" "" "0001066194" "0" "50" "15" "44920922" "44920922" "subst" "7.31814E-5" "02325" "EIF3J_000131" "g.44920922T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066195" "0" "50" "15" "44943734" "44943734" "subst" "0" "01804" "EIF3J_000132" "g.44943734G>C" "" "" "" "SPG11(NM_025137.4):c.1411C>G (p.(Pro471Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066196" "0" "50" "15" "44944397" "44944397" "subst" "4.06197E-5" "02325" "EIF3J_000133" "g.44944397C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066197" "0" "70" "15" "44958658" "44958658" "del" "0" "02325" "EIF3J_000134" "g.44958658del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001068992" "1" "90" "15" "44949428" "44949429" "del" "6.49783E-5" "00006" "SPG11_000021" "g.44949428_44949429del" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.44657230_44657231del" "SCV001755640.2" "pathogenic" "ACMG" "0001069047" "1" "90" "15" "44861661" "44861662" "del" "0" "00006" "SPG11_000179" "g.44861661_44861662del" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1, PM2, PM3" "Germline" "" "" "0" "" "" "g.44569463_44569464del" "SCV001755648" "pathogenic" "ACMG" "0001069199" "3" "50" "15" "44887477" "44887477" "subst" "4.06276E-6" "00006" "SPG11_000183" "g.44887477C>T" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.44595279C>T" "SCV006075281.1" "VUS" "ACMG" "0001069272" "3" "70" "15" "44905662" "44905693" "dup" "0" "00006" "SPG11_000189" "g.44905662_44905693dup" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.44613464_44613495dup" "SCV006075286.1" "likely pathogenic" "ACMG" "0001069315" "3" "90" "15" "44905705" "44905705" "dup" "0" "00006" "SPG11_000019" "g.44905705dup" "" "{PMID:Molaei 2025:41315541}" "" "3075dupA" "ACMG PVS1, PP5, PM2" "Germline" "" "" "0" "" "" "g.44613507dup" "SCV001755384" "pathogenic" "ACMG" "0001069366" "3" "70" "15" "44890981" "44890982" "ins" "0" "00006" "SPG11_000185" "g.44890981_44890982insGGGTA" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1_str, PM2" "Germline" "" "" "0" "" "" "g.44598783_44598784insGGGTA" "SCV006075283.1" "likely pathogenic" "ACMG" "0001069369" "3" "90" "15" "44905705" "44905705" "dup" "0" "00006" "SPG11_000019" "g.44905705dup" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1, PM2, PP5, PM3" "Germline" "" "" "0" "" "" "g.44613507dup" "SCV001755384" "pathogenic" "ACMG" "0001069378" "3" "50" "15" "44900763" "44900763" "subst" "0" "00006" "SPG11_000187" "g.44900763A>C" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.44608565A>C" "SCV006075284.1" "VUS" "ACMG" "0001069430" "3" "50" "15" "44862838" "44862838" "subst" "0" "00006" "SPG11_000180" "g.44862838A>G" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.44570640A>G" "SCV006075279.1" "VUS" "ACMG" "0001069431" "3" "90" "15" "44867119" "44867122" "del" "0" "00006" "EIF3J_000013" "g.44867119_44867122del" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1, PM3, PM2, PP1, PP5" "Germline" "" "" "0" "" "" "g.44574921_44574924del" "SCV006075280.1" "pathogenic" "ACMG" "0001069451" "3" "90" "15" "44905705" "44905705" "dup" "0" "00006" "SPG11_000019" "g.44905705dup" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1_VS, PM2, PP5, PP1, PM3Strong" "Germline" "" "" "0" "" "" "g.44613507dup" "SCV001755384" "pathogenic" "ACMG" "0001069504" "3" "70" "15" "44907725" "44907728" "del" "0" "00006" "SPG11_000190" "g.44907725_44907728del" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1_VS, PM2_mod" "Germline" "" "" "0" "" "" "g.44615527_44615530del" "SCV006075287.1" "likely pathogenic" "ACMG" "0001069513" "3" "50" "15" "44905650" "44905652" "del" "0" "00006" "SPG11_000188" "g.44905650_44905652del" "" "{PMID:Molaei 2025:41315541}" "" "3122_3124delGAC" "ACMG PM2_M, PM4_M" "Germline" "" "" "0" "" "" "g.44613452_44613454del" "SCV006075285.1" "VUS" "ACMG" "0001069565" "3" "70" "15" "44955767" "44955767" "del" "0" "00006" "SPG11_000191" "g.44955767del" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1_vs, PM2" "Germline" "" "" "0" "" "" "g.44663569del" "SCV006075288.1" "likely pathogenic" "ACMG" "0001069649" "3" "70" "15" "44876405" "44876405" "subst" "0" "00006" "SPG11_000182" "g.44876405G>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.44584207G>A" "SCV001755251" "likely pathogenic" "ACMG" "0001069676" "3" "90" "15" "44905705" "44905705" "dup" "0" "00006" "SPG11_000019" "g.44905705dup" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1, PM2, PM3_str" "Germline" "" "" "0" "" "" "g.44613507dup" "SCV001755384" "pathogenic" "ACMG" "0001069716" "3" "90" "15" "44858448" "44858449" "del" "0" "00006" "EIF3J_000116" "g.44858448_44858449del" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1, PM2, PP5" "Germline" "" "" "0" "" "" "g.44566250_44566251del" "SCV001755290" "pathogenic" "ACMG" "0001069748" "3" "90" "15" "44949428" "44949429" "del" "6.49783E-5" "00006" "SPG11_000021" "g.44949428_44949429del" "" "{PMID:Molaei 2025:41315541}" "" "733_734delAT" "ACMG PM2, PP5, PVS1_VS, PM3, PP1" "Germline" "" "" "0" "" "" "g.44657230_44657231del" "SCV001755640" "pathogenic" "ACMG" "0001069782" "3" "90" "15" "44905705" "44905705" "dup" "0" "00006" "SPG11_000019" "g.44905705dup" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1, PM2, PM3_str" "Germline" "" "" "0" "" "" "g.44613507dup" "SCV001755384" "pathogenic" "ACMG" "0001069831" "3" "90" "15" "44905705" "44905705" "dup" "0" "00006" "SPG11_000019" "g.44905705dup" "" "{PMID:Molaei 2025:41315541}" "" "3075dupA" "ACMG PVS1, PM2, PP5" "Germline" "" "" "0" "" "" "g.44613507dup" "SCV001755384" "pathogenic" "ACMG" "0001069898" "3" "70" "15" "44876368" "44876368" "subst" "0" "00006" "SPG11_000181" "g.44876368A>C" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.44584170A>C" "SCV001755497" "likely pathogenic" "ACMG" "0001069900" "3" "90" "15" "44949428" "44949429" "del" "6.49783E-5" "00006" "SPG11_000021" "g.44949428_44949429del" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1, PM2, PP5" "Germline" "" "" "0" "" "" "g.44657230_44657231del" "SCV001755640" "pathogenic" "ACMG" "0001069957" "3" "90" "15" "44905705" "44905705" "dup" "0" "00006" "SPG11_000019" "g.44905705dup" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1, PM2, PM3_str" "Germline" "" "" "0" "" "" "g.44613507dup" "SCV001755384" "pathogenic" "ACMG" "0001070010" "3" "50" "15" "44890957" "44890957" "subst" "0" "00006" "SPG11_000184" "g.44890957A>T" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.44598759A>T" "SCV006075282.1" "VUS" "ACMG" "0001070076" "0" "90" "15" "44905705" "44905705" "dup" "0" "00006" "SPG11_000019" "g.44905705dup" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.44613507dup" "SCV001755384" "pathogenic" "ACMG" "0001070131" "2" "90" "15" "44891033" "44891034" "ins" "8.1406E-6" "00006" "SPG11_000186" "g.44891033_44891034insG" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1, PM2, PM3" "Germline" "" "" "0" "" "" "g.44598835_44598836insG" "SCV001755647" "pathogenic" "ACMG" "0001070157" "0" "70" "15" "44920922" "44920922" "dup" "0" "00006" "SPG11_000178" "g.44920922dup" "" "{PMID:Molaei 2025:41315541}" "" "" "" "Germline" "" "" "0" "" "" "g.44628724del" "" "likely pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SPG11 ## Count = 517 "{{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}}" "0000067195" "00024040" "50" "2278" "0" "2278" "0" "c.2278T>C" "r.(?)" "p.(Cys760Arg)" "12" "0000067196" "00024040" "70" "5470" "0" "5470" "0" "c.5470C>T" "r.(?)" "p.(Arg1824*)" "30" "0000067197" "00024040" "50" "5381" "0" "5381" "0" "c.5381T>C" "r.(?)" "p.(Leu1794Pro)" "30" "0000075866" "00024040" "57" "255" "0" "255" "0" "c.255G>A" "r.(?)" "p.(Trp85*)" "1" "0000075867" "00024040" "57" "4307" "0" "4308" "0" "c.4307_4308del" "r.(?)" "p.(Gln1436Argfs*7)" "25" "0000075868" "00024040" "57" "5470" "0" "5470" "0" "c.5470C>T" "r.(?)" "p.(Arg1824*)" "30" "0000075869" "00024040" "57" "6856" "0" "6856" "0" "c.6856C>T" "r.(?)" "p.(Arg2286*)" "38" "0000090050" "00024040" "90" "6349" "0" "6349" "0" "c.6349G>T" "r.(?)" "p.(Glu2117*)" "34" "0000090056" "00024040" "90" "6709" "0" "6709" "0" "c.6709del" "r.(?)" "p.(Ala2237Glnfs*7)" "36" "0000090058" "00024040" "90" "3568" "0" "3568" "0" "c.3568A>T" "r.(?)" "p.(Lys1190*)" "21" "0000090115" "00024040" "90" "5867" "-3237" "6478" "-451" "c.5867-3237_6478-451del" "r.(?)" "p.(Thr1956Serfs*18)" "30i_34i" "0000090116" "00024040" "90" "1735" "877" "2620" "183" "c.1735+877_2620+183del" "r.(?)" "p.(Asn579_Glu874delinsLys)" "8i_11i" "0000090117" "00024040" "90" "2849" "0" "2849" "0" "c.2849del" "r.(?)" "p.(Leu950Trpfs*13)" "16" "0000090118" "00024040" "90" "5867" "-3237" "6478" "-451" "c.5867-3237_6478-451del" "r.(?)" "p.(Thr1956Serfs*18)" "30i_34i" "0000090119" "00024040" "90" "6787" "0" "6787" "0" "c.6787C>T" "r.(?)" "p.(Gln2263*)" "37" "0000090120" "00024040" "90" "4907" "-667" "5121" "160" "c.4907-667_5121+160del" "r.(?)" "p.(Gly1636Aspfs*12)" "28i_29i" "0000090121" "00024040" "90" "1275" "0" "1275" "0" "c.1275dup" "r.(?)" "p.(Glu426Argfs*3)" "6" "0000090122" "00024040" "90" "4743" "632" "5121" "319" "c.4743+632_5121+319dup" "r.?" "p.?" "27i_29i" "0000090123" "00024040" "90" "4743" "632" "5121" "319" "c.4743+632_5121+319dup" "r.?" "p.?" "27i_29i" "0000090124" "00024040" "90" "2987" "0" "2989" "0" "c.2987_2989del" "r.(?)" "p.(Cys996del)" "16" "0000090125" "00024040" "90" "4907" "-524" "5121" "317" "c.4907-524_5121+317del" "r.(?)" "p.(Gly1636Aspfs*12)" "28i_29i" "0000090126" "00024040" "90" "3075" "0" "3075" "0" "c.3075dup" "r.(?)" "p.(Glu1026Argfs*4)" "17" "0000090127" "00024040" "90" "5867" "-3237" "6478" "-451" "c.5867-3237_6478-451del" "r.(?)" "p.(Thr1956Serfs*18)" "30i_34i" "0000090128" "00024040" "90" "1235" "0" "1235" "0" "c.1235C>G" "r.(?)" "p.(Ser412*)" "6" "0000090129" "00024040" "90" "5867" "-3237" "6478" "-451" "c.5867-3237_6478-451del" "r.(?)" "p.(Thr1956Serfs*18)" "30i_34i" "0000090130" "00024040" "90" "3075" "0" "3075" "0" "c.3075dup" "r.(?)" "p.(Glu1026Argfs*4)" "17" "0000090131" "00024040" "90" "5867" "-3237" "6478" "-451" "c.5867-3237_6478-451del" "r.(?)" "p.(Thr1956Serfs*18)" "30i_34i" "0000090132" "00024040" "90" "733" "0" "734" "0" "c.733_734del" "r.(?)" "p.(Met245Valfs*2)" "4" "0000090133" "00024040" "90" "4743" "632" "5121" "319" "c.4743+632_5121+319dup" "r.?" "p.?" "27i_29i" "0000090134" "00024040" "90" "1951" "0" "1951" "0" "c.1951C>T" "r.(?)" "p.(Arg651*)" "10" "0000090135" "00024040" "90" "6754" "453" "7151" "285" "c.6754+453_7151+285del" "r.(?)" "p.(Glu2252Aspfs*15)" "36i_39i" "0000090136" "00024040" "90" "3075" "0" "3075" "0" "c.3075dup" "r.(?)" "p.(Glu1026Argfs*4)" "17" "0000130277" "00024040" "90" "3121" "0" "3121" "0" "c.3121C>T" "r.(?)" "p.(Arg1041*)" "" "0000237847" "00024040" "90" "4396" "0" "4396" "0" "c.4396C>T" "r.(?)" "p.(Gln1466*)" "" "0000244176" "00024040" "90" "5175" "0" "5175" "0" "c.5175del" "r.(?)" "p.(Ala1726Glnfs*112)" "" "0000247310" "00024040" "10" "1698" "0" "1698" "0" "c.1698T>G" "r.(?)" "p.(Asp566Glu)" "" "0000247316" "00024040" "10" "1388" "0" "1388" "0" "c.1388T>C" "r.(?)" "p.(Phe463Ser)" "" "0000248296" "00024040" "10" "1388" "0" "1388" "0" "c.1388T>C" "r.(?)" "p.(Phe463Ser)" "" "0000249397" "00024040" "30" "6468" "0" "6468" "0" "c.6468T>C" "r.(?)" "p.(Tyr2156=)" "" "0000249398" "00024040" "30" "5796" "0" "5796" "0" "c.5796T>C" "r.(?)" "p.(His1932=)" "" "0000249435" "00024040" "30" "3719" "0" "3719" "0" "c.3719T>C" "r.(?)" "p.(Ile1240Thr)" "" "0000249444" "00024040" "30" "2075" "0" "2075" "0" "c.2075T>C" "r.(?)" "p.(Ile692Thr)" "" "0000250016" "00024040" "10" "1698" "0" "1698" "0" "c.1698T>G" "r.(?)" "p.(Asp566Glu)" "" "0000250031" "00024040" "10" "1388" "0" "1388" "0" "c.1388T>C" "r.(?)" "p.(Phe463Ser)" "" "0000250317" "00024040" "30" "3486" "0" "3486" "0" "c.3486T>C" "r.(?)" "p.(Phe1162=)" "" "0000250536" "00024040" "50" "4618" "0" "4618" "0" "c.4618T>G" "r.(?)" "p.(Phe1540Val)" "" "0000250876" "00024040" "10" "1698" "0" "1698" "0" "c.1698T>G" "r.(?)" "p.(Asp566Glu)" "" "0000251074" "00024040" "10" "4810" "0" "4810" "0" "c.4810T>C" "r.(?)" "p.(Phe1604Leu)" "" "0000251113" "00024040" "10" "4070" "0" "4070" "0" "c.4070T>C" "r.(?)" "p.(Leu1357Pro)" "" "0000251582" "00024040" "10" "4434" "11" "4434" "11" "c.4434+11T>C" "r.(=)" "p.(=)" "" "0000252244" "00024040" "30" "4744" "-6" "4744" "-6" "c.4744-6T>C" "r.(=)" "p.(=)" "" "0000253886" "00024040" "10" "258" "-6" "258" "-6" "c.258-6del" "r.(=)" "p.(=)" "" "0000254499" "00024040" "30" "440" "0" "440" "0" "c.440T>C" "r.(?)" "p.(Ile147Thr)" "" "0000296126" "00024040" "10" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Glu370Lys)" "" "0000296127" "00024040" "50" "1238" "0" "1238" "0" "c.1238G>A" "r.(?)" "p.(Trp413Ter)" "" "0000296128" "00024040" "10" "2083" "0" "2083" "0" "c.2083G>A" "r.(?)" "p.(Ala695Thr)" "" "0000296129" "00024040" "10" "2445" "-20" "2445" "-20" "c.2445-20del" "r.(=)" "p.(=)" "" "0000296130" "00024040" "10" "3037" "0" "3037" "0" "c.3037A>G" "r.(?)" "p.(Lys1013Glu)" "" "0000296131" "00024040" "50" "6878" "0" "6878" "0" "c.6878G>A" "r.(?)" "p.(Arg2293Gln)" "" "0000298455" "00024040" "10" "2083" "0" "2083" "0" "c.2083G>A" "r.(?)" "p.(Ala695Thr)" "" "0000298456" "00024040" "30" "2280" "0" "2280" "0" "c.2280C>T" "r.(?)" "p.(Cys760=)" "" "0000298457" "00024040" "30" "2897" "0" "2897" "0" "c.2897G>A" "r.(?)" "p.(Arg966His)" "" "0000298458" "00024040" "10" "3037" "0" "3037" "0" "c.3037A>G" "r.(?)" "p.(Lys1013Glu)" "" "0000298459" "00024040" "50" "3095" "0" "3095" "0" "c.3095C>T" "r.(?)" "p.(Pro1032Leu)" "" "0000298460" "00024040" "30" "3265" "0" "3265" "0" "c.3265A>G" "r.(?)" "p.(Met1089Val)" "" "0000298461" "00024040" "50" "3823" "0" "3823" "0" "c.3823G>C" "r.(?)" "p.(Ala1275Pro)" "" "0000298462" "00024040" "30" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Ser132Asn)" "" "0000298464" "00024040" "30" "5121" "32" "5121" "33" "c.5121+32_5121+33del" "r.(=)" "p.(=)" "" "0000298465" "00024040" "30" "6224" "0" "6224" "0" "c.6224A>G" "r.(?)" "p.(Asn2075Ser)" "" "0000298466" "00024040" "30" "6258" "0" "6258" "0" "c.6258G>T" "r.(?)" "p.(Leu2086=)" "" "0000298467" "00024040" "30" "6477" "18" "6477" "18" "c.6477+18C>T" "r.(=)" "p.(=)" "" "0000298468" "00024040" "10" "6755" "-17" "6755" "-15" "c.6755-17_6755-15del" "r.(=)" "p.(=)" "" "0000299682" "00024040" "10" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Glu370Lys)" "" "0000299683" "00024040" "30" "1248" "0" "1248" "0" "c.1248G>T" "r.(?)" "p.(Met416Ile)" "" "0000299684" "00024040" "30" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Gly6Arg)" "" "0000299685" "00024040" "30" "176" "0" "176" "0" "c.176C>T" "r.(?)" "p.(Ala59Val)" "" "0000299686" "00024040" "10" "2083" "0" "2083" "0" "c.2083G>A" "r.(?)" "p.(Ala695Thr)" "" "0000299688" "00024040" "10" "2445" "-20" "2445" "-20" "c.2445-20del" "r.(=)" "p.(=)" "" "0000299689" "00024040" "10" "2445" "-20" "2445" "-20" "c.2445-20dup" "r.(=)" "p.(=)" "" "0000299690" "00024040" "50" "2560" "0" "2560" "0" "c.2560G>A" "r.(?)" "p.(Ala854Thr)" "" "0000299691" "00024040" "30" "257" "13" "257" "13" "c.257+13G>A" "r.(=)" "p.(=)" "" "0000299693" "00024040" "50" "2984" "0" "2984" "0" "c.2984A>G" "r.(?)" "p.(Tyr995Cys)" "" "0000299694" "00024040" "10" "3037" "0" "3037" "0" "c.3037A>G" "r.(?)" "p.(Lys1013Glu)" "" "0000299695" "00024040" "30" "3093" "0" "3093" "0" "c.3093C>G" "r.(?)" "p.(His1031Gln)" "" "0000299696" "00024040" "30" "328" "0" "328" "0" "c.328A>G" "r.(?)" "p.(Asn110Asp)" "" "0000299697" "00024040" "30" "3818" "0" "3818" "0" "c.3818A>G" "r.(?)" "p.(Lys1273Arg)" "" "0000299698" "00024040" "30" "4052" "0" "4052" "0" "c.4052G>A" "r.(?)" "p.(Arg1351Lys)" "" "0000299699" "00024040" "30" "4635" "17" "4635" "17" "c.4635+17C>T" "r.(=)" "p.(=)" "" "0000299700" "00024040" "30" "4753" "0" "4753" "0" "c.4753G>T" "r.(?)" "p.(Ala1585Ser)" "" "0000299701" "00024040" "50" "5074" "0" "5074" "0" "c.5074G>A" "r.(?)" "p.(Val1692Ile)" "" "0000299702" "00024040" "10" "6224" "0" "6224" "0" "c.6224A>G" "r.(?)" "p.(Asn2075Ser)" "" "0000299703" "00024040" "10" "6258" "0" "6258" "0" "c.6258G>T" "r.(?)" "p.(Leu2086=)" "" "0000299704" "00024040" "30" "6319" "0" "6319" "0" "c.6319G>A" "r.(?)" "p.(Val2107Ile)" "" "0000299705" "00024040" "10" "6477" "13" "6477" "13" "c.6477+13del" "r.(=)" "p.(=)" "" "0000299706" "00024040" "30" "6754" "19" "6754" "19" "c.6754+19A>G" "r.(=)" "p.(=)" "" "0000299707" "00024040" "30" "6759" "0" "6759" "0" "c.6759C>G" "r.(?)" "p.(Asp2253Glu)" "" "0000299708" "00024040" "30" "6789" "0" "6789" "0" "c.6789A>G" "r.(?)" "p.(Gln2263=)" "" "0000299709" "00024040" "10" "7197" "0" "7197" "0" "c.7197G>A" "r.(?)" "p.(Lys2399=)" "" "0000299710" "00024040" "30" "7256" "0" "7256" "0" "c.7256A>G" "r.(?)" "p.(Lys2419Arg)" "" "0000302412" "00024040" "10" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Glu370Lys)" "" "0000302413" "00024040" "10" "1348" "0" "1348" "0" "c.1348A>G" "r.(?)" "p.(Ile450Val)" "" "0000302414" "00024040" "10" "2083" "0" "2083" "0" "c.2083G>A" "r.(?)" "p.(Ala695Thr)" "" "0000302415" "00024040" "10" "23" "0" "23" "0" "c.23C>G" "r.(?)" "p.(Ala8Gly)" "" "0000302416" "00024040" "30" "257" "13" "257" "13" "c.257+13G>A" "r.(=)" "p.(=)" "" "0000302417" "00024040" "10" "3037" "0" "3037" "0" "c.3037A>G" "r.(?)" "p.(Lys1013Glu)" "" "0000302418" "00024040" "10" "3818" "0" "3818" "0" "c.3818A>G" "r.(?)" "p.(Lys1273Arg)" "" "0000302419" "00024040" "30" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Ser132Asn)" "" "0000302420" "00024040" "10" "43" "0" "43" "0" "c.43G>A" "r.(?)" "p.(Gly15Ser)" "" "0000302421" "00024040" "30" "4923" "0" "4923" "0" "c.4923G>C" "r.(?)" "p.(Lys1641Asn)" "" "0000302422" "00024040" "10" "6224" "0" "6224" "0" "c.6224A>G" "r.(?)" "p.(Asn2075Ser)" "" "0000302423" "00024040" "10" "6319" "0" "6319" "0" "c.6319G>A" "r.(?)" "p.(Val2107Ile)" "" "0000302424" "00024040" "30" "6477" "13" "6477" "13" "c.6477+13del" "r.(=)" "p.(=)" "" "0000302425" "00024040" "10" "6755" "-17" "6755" "-15" "c.6755-17_6755-15del" "r.(=)" "p.(=)" "" "0000302426" "00024040" "10" "6953" "0" "6953" "0" "c.6953G>A" "r.(?)" "p.(Arg2318His)" "" "0000302427" "00024040" "90" "6996" "0" "6996" "0" "c.6996C>A" "r.(?)" "p.(Tyr2332Ter)" "" "0000302428" "00024040" "30" "7069" "0" "7069" "0" "c.7069C>T" "r.(?)" "p.(Leu2357Phe)" "" "0000302429" "00024040" "30" "7256" "0" "7256" "0" "c.7256A>G" "r.(?)" "p.(Lys2419Arg)" "" "0000308777" "00024040" "30" "1218" "0" "1218" "0" "c.1218C>G" "r.(?)" "p.(Thr406=)" "" "0000308778" "00024040" "30" "1457" "-4" "1457" "-4" "c.1457-4A>G" "r.spl?" "p.?" "" "0000308779" "00024040" "30" "176" "0" "176" "0" "c.176C>T" "r.(?)" "p.(Ala59Val)" "" "0000308780" "00024040" "30" "3291" "9" "3291" "9" "c.3291+9A>G" "r.(=)" "p.(=)" "" "0000308781" "00024040" "50" "3619" "0" "3619" "0" "c.3619C>T" "r.(?)" "p.(Arg1207Trp)" "" "0000308782" "00024040" "30" "4365" "0" "4365" "0" "c.4365G>C" "r.(?)" "p.(Trp1455Cys)" "" "0000308783" "00024040" "10" "4687" "0" "4687" "0" "c.4687A>G" "r.(?)" "p.(Arg1563Gly)" "" "0000308784" "00024040" "50" "4889" "0" "4889" "0" "c.4889A>G" "r.(?)" "p.(Glu1630Gly)" "" "0000308785" "00024040" "90" "5353" "0" "5353" "0" "c.5353C>T" "r.(?)" "p.(Gln1785Ter)" "" "0000308786" "00024040" "30" "6224" "0" "6224" "0" "c.6224A>G" "r.(?)" "p.(Asn2075Ser)" "" "0000308787" "00024040" "30" "6258" "0" "6258" "0" "c.6258G>T" "r.(?)" "p.(Leu2086=)" "" "0000308789" "00024040" "50" "6877" "0" "6877" "0" "c.6877C>T" "r.(?)" "p.(Arg2293Trp)" "" "0000308790" "00024040" "50" "6878" "0" "6878" "0" "c.6878G>A" "r.(?)" "p.(Arg2293Gln)" "" "0000308791" "00024040" "30" "6882" "0" "6882" "0" "c.6882C>T" "r.(?)" "p.(Leu2294=)" "" "0000311483" "00024040" "30" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Val270Ile)" "" "0000313174" "00024040" "10" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Val270Ile)" "" "0000313870" "00024040" "10" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Val270Ile)" "" "0000313871" "00024040" "30" "833" "0" "833" "0" "c.833A>G" "r.(?)" "p.(Asn278Ser)" "" "0000324069" "00024040" "50" "1605" "0" "1605" "0" "c.1605C>T" "r.(?)" "p.(Ala535=)" "" "0000324070" "00024040" "50" "258" "-6" "258" "-6" "c.258-6del" "r.(=)" "p.(=)" "" "0000338115" "00024040" "90" "7152" "-1" "7152" "-1" "c.7152-1G>C" "r.spl?" "p.?" "" "0000338118" "00024040" "90" "3145" "1" "3145" "1" "c.3145+1G>A" "r.spl?" "p.?" "" "0000338120" "00024040" "90" "2316" "1" "2316" "1" "c.2316+1G>A" "r.spl?" "p.?" "" "0000340100" "00024040" "10" "7197" "0" "7197" "0" "c.7197G>A" "r.(?)" "p.(Lys2399=)" "" "0000340102" "00024040" "10" "3420" "0" "3420" "0" "c.3420G>A" "r.(?)" "p.(Leu1140=)" "" "0000342200" "00024040" "90" "6100" "0" "6100" "0" "c.6100C>T" "r.(?)" "p.(Arg2034Ter)" "" "0000343209" "00024040" "90" "1951" "0" "1951" "0" "c.1951C>T" "r.(?)" "p.(Arg651Ter)" "" "0000343627" "00024040" "50" "5550" "0" "5550" "0" "c.5550C>G" "r.(?)" "p.(Asn1850Lys)" "" "0000344139" "00024040" "10" "1698" "0" "1698" "0" "c.1698T>G" "r.(?)" "p.(Asp566Glu)" "" "0000344621" "00024040" "90" "5623" "0" "5623" "0" "c.5623C>T" "r.(?)" "p.(Gln1875Ter)" "" "0000344861" "00024040" "90" "1432" "0" "1432" "0" "c.1432C>T" "r.(?)" "p.(Gln478Ter)" "" "0000344863" "00024040" "50" "1435" "0" "1435" "0" "c.1435C>A" "r.(?)" "p.(Gln479Lys)" "" "0000344981" "00024040" "90" "2431" "0" "2431" "0" "c.2431C>T" "r.(?)" "p.(Gln811Ter)" "" "0000345147" "00024040" "90" "4483" "0" "4483" "0" "c.4483G>T" "r.(?)" "p.(Glu1495Ter)" "" "0000345179" "00024040" "50" "5121" "0" "5121" "0" "c.5121G>T" "r.(?)" "p.(Glu1707Asp)" "" "0000345386" "00024040" "10" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Glu370Lys)" "" "0000346470" "00024040" "30" "1251" "0" "1251" "0" "c.1251C>T" "r.(?)" "p.(His417=)" "" "0000346604" "00024040" "30" "4978" "0" "4978" "0" "c.4978A>G" "r.(?)" "p.(Ile1660Val)" "" "0000346985" "00024040" "30" "6284" "0" "6284" "0" "c.6284T>C" "r.(?)" "p.(Leu2095Ser)" "" "0000347491" "00024040" "10" "7256" "0" "7256" "0" "c.7256A>G" "r.(?)" "p.(Lys2419Arg)" "" "0000347964" "00024040" "10" "4810" "0" "4810" "0" "c.4810T>C" "r.(?)" "p.(Phe1604Leu)" "" "0000348052" "00024040" "10" "1388" "0" "1388" "0" "c.1388T>C" "r.(?)" "p.(Phe463Ser)" "" "0000349785" "00024040" "90" "1085" "0" "1085" "0" "c.1085G>A" "r.(?)" "p.(Trp362Ter)" "" "0000349864" "00024040" "90" "2697" "0" "2697" "0" "c.2697G>A" "r.(?)" "p.(Trp899Ter)" "" "0000408469" "00024040" "90" "3292" "-67" "6205" "1" "c.(3145+1_3292-67)_(6205+1_6206-1)del" "r.?" "p.?" "17i_32i" "0000453952" "00024040" "90" "777" "0" "781" "0" "c.777_781del" "r.(?)" "p.(Ser261Glufs*22)" "" "0000554348" "00024040" "30" "7256" "0" "7256" "0" "c.7256A>G" "r.(?)" "p.(Lys2419Arg)" "" "0000554350" "00024040" "10" "7197" "0" "7197" "0" "c.7197G>A" "r.(?)" "p.(Lys2399=)" "" "0000554351" "00024040" "10" "7197" "0" "7197" "0" "c.7197G>A" "r.(?)" "p.(Lys2399=)" "" "0000554352" "00024040" "30" "7152" "-14" "7152" "-10" "c.7152-14_7152-10dup" "r.(=)" "p.(=)" "" "0000554353" "00024040" "50" "7132" "0" "7132" "0" "c.7132T>C" "r.(?)" "p.(Phe2378Leu)" "" "0000554354" "00024040" "50" "7132" "0" "7132" "0" "c.7132T>C" "r.(?)" "p.(Phe2378Leu)" "" "0000554355" "00024040" "50" "7132" "0" "7132" "0" "c.7132T>C" "r.(?)" "p.(Phe2378Leu)" "" "0000554356" "00024040" "30" "7132" "0" "7132" "0" "c.7132T>C" "r.(?)" "p.(Phe2378Leu)" "" "0000554357" "00024040" "50" "7069" "0" "7069" "0" "c.7069C>T" "r.(?)" "p.(Leu2357Phe)" "" "0000554358" "00024040" "30" "7023" "0" "7023" "0" "c.7023C>T" "r.(?)" "p.(Tyr2341=)" "" "0000554359" "00024040" "30" "7023" "0" "7023" "0" "c.7023C>T" "r.(?)" "p.(Tyr2341=)" "" "0000554360" "00024040" "10" "7023" "0" "7023" "0" "c.7023C>T" "r.(?)" "p.(Tyr2341=)" "" "0000554361" "00024040" "30" "6953" "0" "6953" "0" "c.6953G>A" "r.(?)" "p.(Arg2318His)" "" "0000554362" "00024040" "50" "6950" "0" "6950" "0" "c.6950G>A" "r.(?)" "p.(Gly2317Asp)" "" "0000554364" "00024040" "30" "6930" "0" "6930" "0" "c.6930C>T" "r.(?)" "p.(Asn2310=)" "" "0000554366" "00024040" "50" "6818" "0" "6819" "0" "c.6818_6819insACA" "r.(?)" "p.(Leu2273_Asp2274insGln)" "" "0000554368" "00024040" "30" "6759" "0" "6759" "0" "c.6759C>G" "r.(?)" "p.(Asp2253Glu)" "" "0000554369" "00024040" "50" "6584" "0" "6584" "0" "c.6584C>T" "r.(?)" "p.(Pro2195Leu)" "" "0000554370" "00024040" "30" "6477" "13" "6477" "13" "c.6477+13del" "r.(=)" "p.(=)" "" "0000554371" "00024040" "30" "6477" "13" "6477" "13" "c.6477+13del" "r.(=)" "p.(=)" "" "0000554372" "00024040" "30" "6319" "0" "6319" "0" "c.6319G>A" "r.(?)" "p.(Val2107Ile)" "" "0000554373" "00024040" "50" "6284" "0" "6284" "0" "c.6284T>C" "r.(?)" "p.(Leu2095Ser)" "" "0000554374" "00024040" "30" "6224" "0" "6224" "0" "c.6224A>G" "r.(?)" "p.(Asn2075Ser)" "" "0000554375" "00024040" "30" "6205" "10" "6205" "10" "c.6205+10C>G" "r.(=)" "p.(=)" "" "0000554376" "00024040" "30" "6006" "15" "6006" "15" "c.6006+15dup" "r.(=)" "p.(=)" "" "0000554377" "00024040" "90" "5989" "0" "5992" "0" "c.5989_5992del" "r.(?)" "p.(Leu1997MetfsTer60)" "" "0000554378" "00024040" "50" "5550" "0" "5550" "0" "c.5550C>G" "r.(?)" "p.(Asn1850Lys)" "" "0000554379" "00024040" "30" "5428" "0" "5428" "0" "c.5428A>T" "r.(?)" "p.(Thr1810Ser)" "" "0000554380" "00024040" "50" "5288" "0" "5288" "0" "c.5288C>G" "r.(?)" "p.(Pro1763Arg)" "" "0000554381" "00024040" "30" "5121" "12" "5121" "12" "c.5121+12C>G" "r.(=)" "p.(=)" "" "0000554382" "00024040" "50" "5121" "0" "5121" "0" "c.5121G>T" "r.(?)" "p.(Glu1707Asp)" "" "0000554383" "00024040" "50" "5121" "0" "5121" "0" "c.5121G>T" "r.(?)" "p.(Glu1707Asp)" "" "0000554384" "00024040" "50" "4950" "0" "4950" "0" "c.4950G>C" "r.(?)" "p.(Lys1650Asn)" "" "0000554385" "00024040" "30" "4923" "0" "4923" "0" "c.4923G>C" "r.(?)" "p.(Lys1641Asn)" "" "0000554387" "00024040" "30" "4907" "-5" "4907" "-5" "c.4907-5C>T" "r.spl?" "p.?" "" "0000554388" "00024040" "30" "4907" "-5" "4907" "-5" "c.4907-5C>T" "r.spl?" "p.?" "" "0000554389" "00024040" "90" "4811" "0" "4811" "0" "c.4811dup" "r.(?)" "p.(Leu1605ProfsTer10)" "" "0000554390" "00024040" "30" "4744" "-6" "4744" "-6" "c.4744-6T>C" "r.(=)" "p.(=)" "" "0000554391" "00024040" "30" "4578" "0" "4578" "0" "c.4578A>C" "r.(?)" "p.(Thr1526=)" "" "0000554392" "00024040" "30" "4365" "0" "4365" "0" "c.4365G>C" "r.(?)" "p.(Trp1455Cys)" "" "0000554393" "00024040" "30" "4145" "0" "4145" "0" "c.4145A>G" "r.(?)" "p.(Asn1382Ser)" "" "0000554394" "00024040" "30" "3930" "0" "3932" "0" "c.3930_3932del" "r.(?)" "p.(Thr1312del)" "" "0000554395" "00024040" "50" "3823" "0" "3823" "0" "c.3823G>C" "r.(?)" "p.(Ala1275Pro)" "" "0000554396" "00024040" "30" "3818" "0" "3818" "0" "c.3818A>G" "r.(?)" "p.(Lys1273Arg)" "" "0000554397" "00024040" "30" "3549" "0" "3549" "0" "c.3549T>G" "r.(?)" "p.(Ser1183=)" "" "0000554398" "00024040" "10" "3420" "0" "3420" "0" "c.3420G>A" "r.(?)" "p.(Leu1140=)" "" "0000554399" "00024040" "10" "3420" "0" "3420" "0" "c.3420G>A" "r.(?)" "p.(Leu1140=)" "" "0000554401" "00024040" "50" "3312" "0" "3317" "0" "c.3312_3317del" "r.(?)" "p.(Glu1105_Asn1106del)" "" "0000554402" "00024040" "10" "3037" "0" "3037" "0" "c.3037A>G" "r.(?)" "p.(Lys1013Glu)" "" "0000554403" "00024040" "90" "3018" "0" "3018" "0" "c.3018T>A" "r.(?)" "p.(Tyr1006Ter)" "" "0000554404" "00024040" "50" "2897" "0" "2897" "0" "c.2897G>A" "r.(?)" "p.(Arg966His)" "" "0000554406" "00024040" "30" "2887" "0" "2887" "0" "c.2887A>C" "r.(?)" "p.(Arg963=)" "" "0000554407" "00024040" "30" "2887" "0" "2887" "0" "c.2887A>C" "r.(?)" "p.(Arg963=)" "" "0000554408" "00024040" "30" "2887" "0" "2887" "0" "c.2887A>C" "r.(?)" "p.(Arg963=)" "" "0000554409" "00024040" "70" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Gln914Ter)" "" "0000554410" "00024040" "30" "2669" "0" "2669" "0" "c.2669G>T" "r.(?)" "p.(Arg890Leu)" "" "0000554411" "00024040" "30" "2656" "0" "2656" "0" "c.2656T>C" "r.(?)" "p.(Tyr886His)" "" "0000554412" "00024040" "10" "2656" "0" "2656" "0" "c.2656T>C" "r.(?)" "p.(Tyr886His)" "" "0000554413" "00024040" "30" "2656" "0" "2656" "0" "c.2656T>C" "r.(?)" "p.(Tyr886His)" "" "0000554414" "00024040" "30" "2621" "-8" "2621" "-8" "c.2621-8T>C" "r.(=)" "p.(=)" "" "0000554415" "00024040" "30" "2621" "-8" "2621" "-8" "c.2621-8dup" "r.(=)" "p.(=)" "" "0000554416" "00024040" "30" "2621" "-18" "2621" "-18" "c.2621-18G>T" "r.(=)" "p.(=)" "" "0000554417" "00024040" "30" "2445" "-21" "2445" "-20" "c.2445-21_2445-20dup" "r.(=)" "p.(=)" "" "0000554418" "00024040" "10" "2445" "-20" "2445" "-20" "c.2445-20dup" "r.(=)" "p.(=)" "" "0000554419" "00024040" "30" "2418" "0" "2418" "0" "c.2418A>G" "r.(?)" "p.(Glu806=)" "" "0000554420" "00024040" "30" "2377" "0" "2377" "0" "c.2377G>A" "r.(?)" "p.(Val793Met)" "" "0000554421" "00024040" "50" "2318" "0" "2318" "0" "c.2318T>G" "r.(?)" "p.(Val773Gly)" "" "0000554422" "00024040" "50" "2318" "0" "2318" "0" "c.2318T>G" "r.(?)" "p.(Val773Gly)" "" "0000554423" "00024040" "30" "2184" "0" "2184" "0" "c.2184G>A" "r.(?)" "p.(Leu728=)" "" "0000554424" "00024040" "30" "2169" "0" "2169" "0" "c.2169C>T" "r.(?)" "p.(Gly723=)" "" "0000554425" "00024040" "10" "2083" "0" "2083" "0" "c.2083G>A" "r.(?)" "p.(Ala695Thr)" "" "0000554426" "00024040" "30" "2027" "0" "2027" "0" "c.2027A>G" "r.(?)" "p.(Lys676Arg)" "" "0000554427" "00024040" "90" "1752" "0" "1752" "0" "c.1752dup" "r.(?)" "p.(Pro585ThrfsTer11)" "" "0000554428" "00024040" "30" "1605" "0" "1605" "0" "c.1605C>T" "r.(?)" "p.(Ala535=)" "" "0000554429" "00024040" "50" "1558" "0" "1558" "0" "c.1558C>T" "r.(?)" "p.(Leu520Phe)" "" "0000554430" "00024040" "50" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Ser510Asn)" "" "0000554431" "00024040" "50" "1384" "0" "1384" "0" "c.1384T>C" "r.(?)" "p.(Cys462Arg)" "" "0000554432" "00024040" "30" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Glu426Lys)" "" "0000554433" "00024040" "30" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Glu370Lys)" "" "0000554434" "00024040" "10" "993" "0" "993" "0" "c.993C>T" "r.(?)" "p.(Ser331=)" "" "0000554435" "00024040" "30" "993" "0" "993" "0" "c.993C>T" "r.(?)" "p.(Ser331=)" "" "0000554436" "00024040" "10" "833" "0" "833" "0" "c.833A>G" "r.(?)" "p.(Asn278Ser)" "" "0000554437" "00024040" "30" "833" "0" "833" "0" "c.833A>G" "r.(?)" "p.(Asn278Ser)" "" "0000554438" "00024040" "10" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Val270Ile)" "" "0000554439" "00024040" "50" "779" "0" "779" "0" "c.779C>A" "r.(?)" "p.(Thr260Asn)" "" "0000554440" "00024040" "90" "733" "0" "734" "0" "c.733_734del" "r.(?)" "p.(Met245ValfsTer2)" "" "0000554442" "00024040" "30" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Ser132Asn)" "" "0000554443" "00024040" "50" "278" "0" "278" "0" "c.278G>A" "r.(?)" "p.(Arg93His)" "" "0000554444" "00024040" "30" "257" "17" "257" "17" "c.257+17A>G" "r.(=)" "p.(=)" "" "0000554445" "00024040" "30" "23" "0" "23" "0" "c.23C>G" "r.(?)" "p.(Ala8Gly)" "" "0000554446" "00024040" "50" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Gly6Arg)" "" "0000554447" "00024040" "30" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Gly6Arg)" "" "0000615318" "00024040" "50" "7255" "0" "7256" "0" "c.7255_7256dup" "r.(?)" "p.(Phe2420SerfsTer6)" "" "0000615319" "00024040" "50" "7161" "0" "7163" "0" "c.7161_7163del" "r.(?)" "p.(Gln2387del)" "" "0000615320" "00024040" "50" "7069" "0" "7069" "0" "c.7069C>T" "r.(?)" "p.(Leu2357Phe)" "" "0000615321" "00024040" "30" "7024" "0" "7024" "0" "c.7024G>C" "r.(?)" "p.(Asp2342His)" "" "0000615322" "00024040" "30" "6755" "-10" "6755" "-10" "c.6755-10del" "r.(=)" "p.(=)" "" "0000615323" "00024040" "10" "6754" "19" "6754" "19" "c.6754+19A>G" "r.(=)" "p.(=)" "" "0000615324" "00024040" "30" "6632" "0" "6632" "0" "c.6632G>A" "r.(?)" "p.(Arg2211His)" "" "0000615325" "00024040" "50" "6410" "0" "6410" "0" "c.6410G>A" "r.(?)" "p.(Arg2137Gln)" "" "0000615326" "00024040" "50" "5121" "0" "5121" "0" "c.5121G>T" "r.(?)" "p.(Glu1707Asp)" "" "0000615327" "00024040" "50" "4561" "0" "4561" "0" "c.4561T>C" "r.(?)" "p.(Ser1521Pro)" "" "0000615328" "00024040" "30" "4026" "0" "4026" "0" "c.4026A>G" "r.(?)" "p.(Gln1342=)" "" "0000615329" "00024040" "50" "2318" "0" "2318" "0" "c.2318T>G" "r.(?)" "p.(Val773Gly)" "" "0000615330" "00024040" "30" "2244" "10" "2244" "10" "c.2244+10G>T" "r.(=)" "p.(=)" "" "0000615331" "00024040" "50" "1558" "0" "1558" "0" "c.1558C>T" "r.(?)" "p.(Leu520Phe)" "" "0000615332" "00024040" "30" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Asp390Asn)" "" "0000615333" "00024040" "30" "763" "0" "763" "0" "c.763A>G" "r.(?)" "p.(Lys255Glu)" "" "0000615334" "00024040" "30" "440" "0" "440" "0" "c.440T>C" "r.(?)" "p.(Ile147Thr)" "" "0000615336" "00024040" "50" "66" "0" "66" "0" "c.66G>A" "r.(?)" "p.(Met22Ile)" "" "0000615337" "00024040" "30" "48" "0" "48" "0" "c.48C>T" "r.(?)" "p.(Ser16=)" "" "0000623227" "00024040" "30" "7152" "-14" "7152" "-10" "c.7152-14_7152-10dup" "r.(=)" "p.(=)" "" "0000623228" "00024040" "30" "6258" "0" "6258" "0" "c.6258G>T" "r.(?)" "p.(Leu2086=)" "" "0000623229" "00024040" "50" "5648" "0" "5648" "0" "c.5648G>A" "r.(?)" "p.(Gly1883Glu)" "" "0000623230" "00024040" "50" "5121" "0" "5121" "0" "c.5121G>T" "r.(?)" "p.(Glu1707Asp)" "" "0000623231" "00024040" "30" "4744" "-6" "4744" "-6" "c.4744-6T>C" "r.(=)" "p.(=)" "" "0000623232" "00024040" "30" "4410" "0" "4410" "0" "c.4410C>T" "r.(?)" "p.(Leu1470=)" "" "0000623234" "00024040" "30" "3292" "-7" "3292" "-7" "c.3292-7del" "r.(=)" "p.(=)" "" "0000623235" "00024040" "50" "934" "0" "934" "0" "c.934G>T" "r.(?)" "p.(Gly312Cys)" "" "0000629179" "00024040" "90" "2163" "0" "2163" "0" "c.2163dup" "r.(?)" "p.(Ile722Tyrfs*10)" "11" "0000647120" "00024040" "50" "2075" "0" "2075" "0" "c.2075T>C" "r.(?)" "p.(Ile692Thr)" "" "0000649073" "00024040" "50" "6424" "0" "6424" "0" "c.6424G>A" "r.(?)" "p.(Ala2142Thr)" "" "0000649074" "00024040" "50" "6284" "0" "6284" "0" "c.6284T>C" "r.(?)" "p.(Leu2095Ser)" "" "0000649075" "00024040" "50" "5121" "0" "5121" "0" "c.5121G>T" "r.(?)" "p.(Glu1707Asp)" "" "0000649076" "00024040" "30" "3420" "0" "3420" "0" "c.3420G>A" "r.(=)" "p.(=)" "" "0000649077" "00024040" "10" "3037" "0" "3037" "0" "c.3037A>G" "r.(?)" "p.(Lys1013Glu)" "" "0000649078" "00024040" "10" "2083" "0" "2083" "0" "c.2083G>A" "r.(?)" "p.(Ala695Thr)" "" "0000649079" "00024040" "50" "1698" "0" "1698" "0" "c.1698T>G" "r.(?)" "p.(Asp566Glu)" "" "0000649080" "00024040" "10" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Glu370Lys)" "" "0000649081" "00024040" "30" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Val270Ile)" "" "0000653008" "00024040" "10" "7023" "0" "7023" "0" "c.7023C>T" "r.(=)" "p.(=)" "" "0000653357" "00024040" "50" "1084" "0" "1084" "0" "c.1084T>C" "r.(?)" "p.(Trp362Arg)" "" "0000657579" "00024040" "50" "5792" "0" "5792" "0" "c.5792T>A" "r.(?)" "p.(Ile1931Asn)" "" "0000657580" "00024040" "50" "5648" "0" "5648" "0" "c.5648G>A" "r.(?)" "p.(Gly1883Glu)" "" "0000657581" "00024040" "50" "5550" "0" "5550" "0" "c.5550C>G" "r.(?)" "p.(Asn1850Lys)" "" "0000657582" "00024040" "50" "3454" "0" "3454" "0" "c.3454T>G" "r.(?)" "p.(Ser1152Ala)" "" "0000657583" "00024040" "10" "2621" "-15" "2621" "-15" "c.2621-15T>G" "r.(=)" "p.(=)" "" "0000657584" "00024040" "30" "257" "15" "257" "15" "c.257+15A>G" "r.(=)" "p.(=)" "" "0000659576" "00024040" "50" "6010" "0" "6010" "0" "c.6010T>G" "r.(?)" "p.(Leu2004Val)" "" "0000659696" "00024040" "90" "5986" "0" "5986" "0" "c.5986dup" "r.(?)" "p.(Cys1996Leufs*4)" "" "0000659697" "00024040" "90" "2431" "0" "2431" "0" "c.2431C>T" "r.(?)" "p.(Gln811*)" "" "0000659714" "00024040" "90" "442" "1" "442" "1" "c.442+1G>A" "r.(?)" "p.(?)" "" "0000660686" "00024040" "50" "3996" "0" "3996" "0" "c.3996A>G" "r.(?)" "p.(Ile1332Met)" "" "0000664368" "00024040" "50" "6944" "0" "6944" "0" "c.6944A>C" "r.(?)" "p.(Asn2315Thr)" "" "0000670145" "00024040" "10" "7023" "0" "7023" "0" "c.7023C>T" "r.(=)" "p.(=)" "" "0000674734" "00024040" "90" "5470" "0" "5470" "0" "c.5470C>T" "r.(?)" "p.(Arg1824Ter)" "" "0000680177" "00024040" "30" "6950" "0" "6950" "0" "c.6950G>A" "r.(?)" "p.(Gly2317Asp)" "" "0000680178" "00024040" "50" "6719" "0" "6719" "0" "c.6719G>A" "r.(?)" "p.(Arg2240His)" "" "0000680179" "00024040" "90" "6100" "0" "6100" "0" "c.6100C>T" "r.(?)" "p.(Arg2034Ter)" "" "0000680180" "00024040" "10" "2621" "-15" "2621" "-15" "c.2621-15T>G" "r.(=)" "p.(=)" "" "0000682857" "00024040" "70" "6886" "0" "6900" "0" "c.6886_6900dup" "r.(?)" "p.(Lys2296_Leu2300dup)" "" "0000691798" "00024040" "50" "6754" "5" "6754" "5" "c.6754+5G>A" "r.spl?" "p.?" "" "0000691799" "00024040" "50" "6696" "0" "6696" "0" "c.6696C>T" "r.(?)" "p.(Gly2232=)" "" "0000691800" "00024040" "30" "3486" "0" "3486" "0" "c.3486T>C" "r.(?)" "p.(Phe1162=)" "" "0000691801" "00024040" "50" "1667" "0" "1667" "0" "c.1667T>C" "r.(?)" "p.(Phe556Ser)" "" "0000691802" "00024040" "30" "1002" "0" "1002" "0" "c.1002T>A" "r.(?)" "p.(Ile334=)" "" "0000691803" "00024040" "50" "833" "0" "833" "0" "c.833A>T" "r.(?)" "p.(Asn278Ile)" "" "0000691804" "00024040" "30" "529" "0" "529" "0" "c.529A>C" "r.(?)" "p.(Ile177Leu)" "" "0000701849" "00024040" "50" "5769" "0" "5769" "0" "c.5769del" "r.(?)" "p.(Ser1923Argfs*28)" "" "0000708547" "00024040" "90" "6215" "0" "6219" "0" "c.6215_6219dup" "r.(?)" "p.(Phe2074ArgfsTer15)" "" "0000725104" "00024040" "10" "7256" "0" "7256" "0" "c.7256A>G" "r.(?)" "p.(Lys2419Arg)" "" "0000725105" "00024040" "30" "7069" "0" "7069" "0" "c.7069C>T" "r.(?)" "p.(Leu2357Phe)" "" "0000725106" "00024040" "10" "7023" "0" "7023" "0" "c.7023C>T" "r.(?)" "p.(Tyr2341=)" "" "0000725107" "00024040" "50" "6944" "0" "6944" "0" "c.6944A>C" "r.(?)" "p.(Asn2315Thr)" "" "0000725108" "00024040" "30" "6759" "0" "6759" "0" "c.6759C>G" "r.(?)" "p.(Asp2253Glu)" "" "0000725109" "00024040" "10" "6755" "-17" "6755" "-15" "c.6755-17_6755-15del" "r.(=)" "p.(=)" "" "0000725110" "00024040" "50" "6632" "0" "6632" "0" "c.6632G>A" "r.(?)" "p.(Arg2211His)" "" "0000725111" "00024040" "30" "6632" "0" "6632" "0" "c.6632G>A" "r.(?)" "p.(Arg2211His)" "" "0000725112" "00024040" "30" "6632" "0" "6632" "0" "c.6632G>A" "r.(?)" "p.(Arg2211His)" "" "0000725113" "00024040" "30" "6507" "0" "6507" "0" "c.6507C>T" "r.(?)" "p.(Tyr2169=)" "" "0000725114" "00024040" "10" "6330" "0" "6330" "0" "c.6330G>A" "r.(?)" "p.(Gly2110=)" "" "0000725115" "00024040" "50" "6126" "0" "6126" "0" "c.6126G>C" "r.(?)" "p.(Gln2042His)" "" "0000725116" "00024040" "70" "4909" "0" "4912" "0" "c.4909_4912dup" "r.(?)" "p.(Asp1638AlafsTer21)" "" "0000725117" "00024040" "50" "4780" "0" "4780" "0" "c.4780C>G" "r.(?)" "p.(Pro1594Ala)" "" "0000725118" "00024040" "50" "4187" "0" "4187" "0" "c.4187G>T" "r.(?)" "p.(Ser1396Ile)" "" "0000725119" "00024040" "50" "2887" "0" "2887" "0" "c.2887A>C" "r.(?)" "p.(Arg963=)" "" "0000725120" "00024040" "10" "1348" "0" "1348" "0" "c.1348A>G" "r.(?)" "p.(Ile450Val)" "" "0000725121" "00024040" "10" "1347" "0" "1347" "0" "c.1347C>T" "r.(?)" "p.(Thr449=)" "" "0000725122" "00024040" "90" "575" "0" "575" "0" "c.575del" "r.(?)" "p.(Thr192AsnfsTer11)" "" "0000725123" "00024040" "30" "545" "0" "545" "0" "c.545A>T" "r.(?)" "p.(Asp182Val)" "" "0000725124" "00024040" "30" "528" "0" "528" "0" "c.528T>C" "r.(?)" "p.(Ile176=)" "" "0000725125" "00024040" "90" "315" "0" "315" "0" "c.315del" "r.(?)" "p.(Ala106Leufs*15)" "" "0000763559" "00024040" "70" "3895" "0" "3895" "0" "c.3895G>A" "r.(?)" "p.(Glu1299Lys)" "" "0000763560" "00024040" "70" "3895" "0" "3895" "0" "c.3895G>A" "r.(?)" "p.(Glu1299Lys)" "" "0000784673" "00024040" "90" "1457" "-2" "1457" "-2" "c.1457-2A>G" "r.spl?" "p.?" "" "0000784674" "00024040" "90" "4307" "0" "4308" "0" "c.4307_4308del" "r.(?)" "p.(Gln1436Argfs*7)" "" "0000787053" "00024040" "90" "2146" "0" "2146" "0" "c.2146C>T" "r.(?)" "p.(Gln716Ter)" "11" "0000787054" "00024040" "90" "3018" "0" "3018" "0" "c.3018T>G" "r.(?)" "p.(Tyr1006Ter)" "16" "0000787055" "00024040" "90" "6100" "0" "6100" "0" "c.6100C>T" "r.(?)" "p.(Arg2034Ter)" "32" "0000787056" "00024040" "90" "6856" "0" "6856" "0" "c.6856C>T" "r.(?)" "p.(Arg2286Ter)" "38" "0000787583" "00024040" "50" "5398" "0" "5398" "0" "c.5398C>G" "r.(?)" "p.(Gln1800Glu)" "30" "0000787584" "00024040" "50" "5582" "0" "5582" "0" "c.5582C>T" "r.(?)" "p.(Pro1861Leu)" "30" "0000806699" "00024040" "90" "7115" "0" "7115" "0" "c.7115T>A" "r.(?)" "p.(Leu2372*)" "" "0000806700" "00024040" "50" "6625" "0" "6625" "0" "c.6625C>T" "r.(?)" "p.(Arg2209Cys)" "" "0000806701" "00024040" "50" "5753" "0" "5753" "0" "c.5753C>A" "r.(?)" "p.(Ala1918Asp)" "" "0000806702" "00024040" "50" "3221" "0" "3221" "0" "c.3221G>C" "r.(?)" "p.(Ser1074Thr)" "" "0000806703" "00024040" "50" "1929" "0" "1929" "0" "c.1929G>C" "r.(?)" "p.(Leu643Phe)" "" "0000806704" "00024040" "30" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Leu66Phe)" "" "0000841193" "00024040" "90" "1235" "0" "1235" "0" "c.1235C>G" "r.(?)" "p.(Ser412*)" "6" "0000841201" "00024040" "90" "1492" "0" "1492" "0" "c.1492C>T" "r.(?)" "p.(Gln498*)" "7" "0000841213" "00024040" "90" "6709" "0" "6709" "0" "c.6709del" "r.(?)" "p.(Ala2237Glnfs*7)" "36" "0000841235" "00024040" "90" "5866" "1" "5866" "1" "c.5866+1G>A" "r.spl" "p.?" "30" "0000841236" "00024040" "90" "1492" "0" "1492" "0" "c.1492C>T" "r.(?)" "p.(Gln498*)" "7" "0000841362" "00024040" "90" "6856" "0" "6856" "0" "c.6856C>T" "r.(?)" "p.(Arg2286*)" "38" "0000841363" "00024040" "90" "6856" "0" "6856" "0" "c.6856C>T" "r.(?)" "p.(Arg2286*)" "38" "0000841365" "00024040" "90" "6898" "0" "6899" "0" "c.6898_6899del" "r.(?)" "p.(Leu2300Alafs*39)" "38" "0000841375" "00024040" "90" "6898" "0" "6899" "0" "c.6898_6899del" "r.(?)" "p.(Leu2300Alafs*39)" "38" "0000841378" "00024040" "90" "2758" "0" "2759" "0" "c.2758_2759del" "r.(?)" "p.(Leu920Aspfs*3)" "15" "0000841422" "00024040" "90" "2758" "0" "2759" "0" "c.2758_2759del" "r.(?)" "p.(Leu920Aspfs*3)" "15" "0000841423" "00024040" "90" "6898" "0" "6899" "0" "c.6898_6899del" "r.(?)" "p.(Leu2300Alafs*39)" "38" "0000841424" "00024040" "90" "1214" "0" "1214" "0" "c.1214A>C" "r.(?)" "p.(Lys405Thr)" "6" "0000841425" "00024040" "90" "6856" "0" "6856" "0" "c.6856C>T" "r.(?)" "p.(Arg2286*)" "38" "0000841426" "00024040" "90" "5866" "1" "5866" "1" "c.5866+1G>A" "r.spl?" "p.?" "" "0000845165" "00024040" "90" "6224" "0" "6224" "0" "c.6224A>G" "r.(?)" "p.(Asn2075Ser)" "" "0000845166" "00024040" "90" "7132" "0" "7132" "0" "c.7132T>C" "r.(?)" "p.(Phe2378Leu)" "" "0000845186" "00024040" "90" "7155" "0" "7155" "0" "c.7155T>A" "r.(?)" "p.(Tyr2385Ter)" "" "0000847151" "00024040" "90" "6151" "0" "6151" "0" "c.6151G>T" "r.(?)" "p.(Glu2051Ter)" "" "0000847178" "00024040" "90" "1235" "0" "1235" "0" "c.1235C>G" "r.(?)" "p.(Ser412Ter)" "" "0000854022" "00024040" "50" "6944" "0" "6944" "0" "c.6944A>C" "r.(?)" "p.(Asn2315Thr)" "" "0000854023" "00024040" "50" "6508" "0" "6510" "0" "c.6508_6510del" "r.(?)" "p.(Asn2170del)" "" "0000854024" "00024040" "50" "5550" "0" "5550" "0" "c.5550C>G" "r.(?)" "p.(Asn1850Lys)" "" "0000854025" "00024040" "30" "2897" "0" "2897" "0" "c.2897G>A" "r.(?)" "p.(Arg966His)" "" "0000854026" "00024040" "30" "2664" "0" "2664" "0" "c.2664A>G" "r.(?)" "p.(Thr888=)" "" "0000854027" "00024040" "50" "844" "0" "844" "0" "c.844G>C" "r.(?)" "p.(Ala282Pro)" "" "0000863843" "00024040" "10" "6755" "-17" "6755" "-15" "c.6755-17_6755-15del" "r.(=)" "p.(=)" "" "0000863844" "00024040" "10" "6330" "0" "6330" "0" "c.6330G>A" "r.(?)" "p.(Gly2110=)" "" "0000863845" "00024040" "30" "5965" "0" "5965" "0" "c.5965A>T" "r.(?)" "p.(Asn1989Tyr)" "" "0000863846" "00024040" "50" "5822" "0" "5822" "0" "c.5822T>C" "r.(?)" "p.(Leu1941Pro)" "" "0000863847" "00024040" "30" "3486" "0" "3486" "0" "c.3486T>C" "r.(?)" "p.(Phe1162=)" "" "0000863848" "00024040" "30" "3291" "9" "3291" "9" "c.3291+9A>G" "r.(=)" "p.(=)" "" "0000863849" "00024040" "10" "1348" "0" "1348" "0" "c.1348A>G" "r.(?)" "p.(Ile450Val)" "" "0000863850" "00024040" "10" "1347" "0" "1347" "0" "c.1347C>T" "r.(?)" "p.(Thr449=)" "" "0000863851" "00024040" "30" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Pro179Ser)" "" "0000863852" "00024040" "30" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Ser132Asn)" "" "0000863853" "00024040" "30" "257" "13" "257" "13" "c.257+13G>A" "r.(=)" "p.(=)" "" "0000873168" "00024040" "50" "7115" "0" "7123" "0" "c.7115_7123del" "r.(?)" "p.(Leu2372_Lys2374del)" "" "0000873169" "00024040" "90" "5623" "0" "5623" "0" "c.5623C>T" "r.(?)" "p.(Gln1875*)" "" "0000873170" "00024040" "90" "4811" "0" "4811" "0" "c.4811dup" "r.(?)" "p.(Leu1605Profs*10)" "" "0000873171" "00024040" "90" "3075" "0" "3075" "0" "c.3075dup" "r.(?)" "p.(Glu1026Argfs*4)" "" "0000874099" "00024040" "70" "6794" "0" "6794" "0" "c.6794T>C" "r.(?)" "p.(Leu2265Pro)" "" "0000880113" "00024040" "90" "5148" "0" "5148" "0" "c.5148dup" "r.(?)" "p.(His1717Thrfs*3)" "" "0000892059" "00024040" "50" "7069" "0" "7069" "0" "c.7069C>T" "r.(?)" "p.(Leu2357Phe)" "" "0000892060" "00024040" "90" "6091" "0" "6091" "0" "c.6091C>T" "r.(?)" "p.(Arg2031*)" "" "0000892061" "00024040" "90" "5989" "0" "5992" "0" "c.5989_5992del" "r.(?)" "p.(Leu1997MetfsTer60)" "" "0000892062" "00024040" "50" "5849" "0" "5849" "0" "c.5849T>G" "r.(?)" "p.(Leu1950Arg)" "" "0000892063" "00024040" "50" "3320" "0" "3320" "0" "c.3320G>C" "r.(?)" "p.(Cys1107Ser)" "" "0000892064" "00024040" "30" "2887" "0" "2887" "0" "c.2887A>C" "r.(?)" "p.(Arg963=)" "" "0000892065" "00024040" "50" "1592" "0" "1592" "0" "c.1592A>T" "r.(?)" "p.(His531Leu)" "" "0000892066" "00024040" "90" "1348" "0" "1348" "0" "c.1348dup" "r.(?)" "p.(Ile450AsnfsTer26)" "" "0000892067" "00024040" "50" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Pro102Ser)" "" "0000908858" "00024040" "70" "2317" "-13" "2317" "-13" "c.2317-13C>G" "r.[2317_2444del,2317_2356del]" "p.[Glu774Leufs*21,Val773Argfs*5]" "" "0000908927" "00024040" "90" "5392" "0" "5392" "0" "c.5392G>A" "r.5392g>a" "p.Glu1798Lys" "" "0000914290" "00024040" "10" "4810" "0" "4810" "0" "c.4810T>C" "r.(?)" "p.(Phe1604Leu)" "" "0000914291" "00024040" "30" "3486" "0" "3486" "0" "c.3486T>C" "r.(?)" "p.(Phe1162=)" "" "0000914292" "00024040" "50" "844" "0" "844" "0" "c.844G>C" "r.(?)" "p.(Ala282Pro)" "" "0000919623" "00024040" "50" "4089" "0" "4089" "0" "c.4089A>G" "r.(=)" "p.(=)" "" "0000925967" "00024040" "30" "2621" "-15" "2621" "-15" "c.2621-15T>G" "r.(=)" "p.(=)" "" "0000927788" "00024040" "90" "1744" "0" "1744" "0" "c.1744G>T" "r.(?)" "p.(Glu582*)" "" "0000945932" "00024040" "70" "3291" "213" "3521" "-1224" "c.3291+213_3521-1224del" "r.(3292_3520del)" "p.(Val1098MetfsTer20)" "" "0000950349" "00024040" "50" "6062" "0" "6062" "0" "c.6062G>A" "r.(?)" "p.(Arg2021Gln)" "" "0000958700" "00024040" "70" "5381" "0" "5381" "0" "c.5381T>C" "r.(?)" "p.(Leu1794Pro)" "" "0000959125" "00024040" "90" "5623" "0" "5623" "0" "c.5623C>T" "r.(?)" "p.(Gln1875Ter)" "" "0000967778" "00024040" "30" "4548" "0" "4548" "0" "c.4548C>T" "r.(?)" "p.(=)" "" "0000967779" "00024040" "10" "3818" "0" "3818" "0" "c.3818A>G" "r.(?)" "p.(Lys1273Arg)" "" "0000967780" "00024040" "50" "3809" "0" "3809" "0" "c.3809T>A" "r.(?)" "p.(Val1270Asp)" "" "0000967783" "00024040" "50" "28" "0" "28" "0" "c.28G>A" "r.(?)" "p.(Ala10Thr)" "" "0000981224" "00024040" "30" "6258" "0" "6258" "0" "c.6258G>T" "r.(?)" "p.(Leu2086=)" "" "0000981225" "00024040" "50" "4562" "0" "4562" "0" "c.4562C>T" "r.(?)" "p.(Ser1521Leu)" "" "0000981226" "00024040" "50" "3595" "0" "3595" "0" "c.3595T>G" "r.(?)" "p.(Phe1199Val)" "" "0000981227" "00024040" "30" "3420" "0" "3420" "0" "c.3420G>A" "r.(?)" "p.(Leu1140=)" "" "0000981228" "00024040" "50" "3161" "0" "3161" "0" "c.3161T>C" "r.(?)" "p.(Phe1054Ser)" "" "0000981229" "00024040" "50" "2757" "0" "2775" "0" "c.2757_2775del" "r.(?)" "p.(Leu920Thrfs*10)" "" "0000981230" "00024040" "50" "2318" "0" "2318" "0" "c.2318T>G" "r.(?)" "p.(Val773Gly)" "" "0000981231" "00024040" "10" "993" "0" "993" "0" "c.993C>T" "r.(?)" "p.(Ser331=)" "" "0000981232" "00024040" "30" "833" "0" "833" "0" "c.833A>G" "r.(?)" "p.(Asn278Ser)" "" "0001001425" "00024040" "30" "6632" "0" "6632" "0" "c.6632G>A" "r.(?)" "p.(Arg2211His)" "" "0001001426" "00024040" "50" "6062" "0" "6062" "0" "c.6062G>A" "r.(?)" "p.(Arg2021Gln)" "" "0001001427" "00024040" "90" "2444" "1" "2444" "1" "c.2444+1G>C" "r.spl?" "p.?" "" "0001001428" "00024040" "90" "2444" "0" "2444" "0" "c.2444G>C" "r.(?)" "p.(Arg815Thr)" "" "0001001429" "00024040" "30" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Val270Ile)" "" "0001001430" "00024040" "50" "44" "0" "44" "0" "c.44G>A" "r.(?)" "p.(Gly15Asp)" "" "0001011884" "00024040" "90" "6205" "1" "6205" "1" "c.6205+1G>A" "r.spl" "p.?" "" "0001011925" "00024040" "90" "6832" "0" "6833" "0" "c.6832_6833del" "r.(?)" "p.(Ser2278LeufsTer61)" "" "0001011932" "00024040" "90" "442" "1" "442" "1" "c.442+1G>C" "r.spl" "p.?" "" "0001012001" "00024040" "90" "869" "1" "869" "1" "c.869+1G>A" "r.spl" "p.?" "" "0001015197" "00024040" "10" "4744" "-6" "4744" "-6" "c.4744-6T>C" "r.(=)" "p.(=)" "" "0001026437" "00024040" "90" "6811" "0" "6812" "0" "c.6811_6812del" "r.(?)" "p.(Leu2271Aspfs*68)" "" "0001026438" "00024040" "50" "3425" "0" "3425" "0" "c.3425C>G" "r.(?)" "p.(Ser1142Cys)" "" "0001040361" "00024040" "50" "7115" "0" "7115" "0" "c.7115T>A" "r.(?)" "p.(Leu2372*)" "" "0001040362" "00024040" "50" "6878" "0" "6878" "0" "c.6878G>A" "r.(?)" "p.(Arg2293Gln)" "" "0001040363" "00024040" "50" "6625" "0" "6625" "0" "c.6625C>T" "r.(?)" "p.(Arg2209Cys)" "" "0001040364" "00024040" "50" "6522" "0" "6525" "0" "c.6522_6525del" "r.(?)" "p.(Ile2175Leufs*13)" "" "0001040365" "00024040" "50" "6250" "0" "6250" "0" "c.6250C>T" "r.(?)" "p.(Leu2084Phe)" "" "0001040366" "00024040" "30" "6224" "0" "6224" "0" "c.6224A>G" "r.(?)" "p.(Asn2075Ser)" "" "0001040367" "00024040" "90" "6100" "0" "6100" "0" "c.6100C>T" "r.(?)" "p.(Arg2034Ter)" "" "0001040368" "00024040" "30" "5796" "0" "5796" "0" "c.5796T>C" "r.(?)" "p.(His1932=)" "" "0001040369" "00024040" "50" "4085" "0" "4085" "0" "c.4085T>C" "r.(?)" "p.(Leu1362Pro)" "" "0001040370" "00024040" "50" "3808" "0" "3808" "0" "c.3808G>A" "r.(?)" "p.(Val1270Ile)" "" "0001040371" "00024040" "50" "3730" "0" "3730" "0" "c.3730T>G" "r.(?)" "p.(Ser1244Ala)" "" "0001040372" "00024040" "50" "3558" "0" "3558" "0" "c.3558C>G" "r.(?)" "p.(Asp1186Glu)" "" "0001040373" "00024040" "50" "3454" "0" "3454" "0" "c.3454T>G" "r.(?)" "p.(Ser1152Ala)" "" "0001040374" "00024040" "30" "3291" "9" "3291" "9" "c.3291+9A>G" "r.(=)" "p.(=)" "" "0001040375" "00024040" "50" "1619" "0" "1619" "0" "c.1619G>A" "r.(?)" "p.(Arg540His)" "" "0001040376" "00024040" "50" "1592" "0" "1592" "0" "c.1592A>T" "r.(?)" "p.(His531Leu)" "" "0001040377" "00024040" "50" "1573" "0" "1575" "0" "c.1573_1575dup" "r.(?)" "p.(Arg525dup)" "" "0001040378" "00024040" "90" "733" "0" "734" "0" "c.733_734del" "r.(?)" "p.(Met245ValfsTer2)" "" "0001049554" "00024040" "90" "1699" "0" "1699" "0" "c.1699C>T" "r.(?)" "p.(Gln567Ter)" "" "0001055075" "00024040" "30" "6330" "0" "6330" "0" "c.6330G>A" "r.(?)" "p.(Gly2110=)" "" "0001055076" "00024040" "50" "6167" "0" "6167" "0" "c.6167A>T" "r.(?)" "p.(Glu2056Val)" "" "0001055077" "00024040" "50" "5753" "0" "5753" "0" "c.5753C>A" "r.(?)" "p.(Ala1918Asp)" "" "0001055078" "00024040" "10" "4810" "0" "4810" "0" "c.4810T>C" "r.(?)" "p.(Phe1604Leu)" "" "0001055079" "00024040" "90" "3664" "0" "3665" "0" "c.3664_3665insT" "r.(?)" "p.(Lys1222Ilefs*15)" "" "0001055080" "00024040" "50" "2896" "0" "2896" "0" "c.2896C>A" "r.(?)" "p.(Arg966Ser)" "" "0001055081" "00024040" "30" "1348" "0" "1348" "0" "c.1348A>G" "r.(?)" "p.(Ile450Val)" "" "0001055082" "00024040" "30" "1347" "0" "1347" "0" "c.1347C>T" "r.(?)" "p.(Thr449=)" "" "0001055083" "00024040" "50" "328" "0" "328" "0" "c.328A>G" "r.(?)" "p.(Asn110Asp)" "" "0001055084" "00024040" "90" "267" "0" "267" "0" "c.267G>A" "r.(?)" "p.(Trp89*)" "" "0001055085" "00024040" "30" "60" "0" "60" "0" "c.60G>A" "r.(?)" "p.(=)" "" "0001059205" "00024040" "90" "202" "0" "203" "0" "c.202_203dup" "r.(?)" "p.(Leu68PhefsTer2)" "" "0001059206" "00024040" "90" "1348" "0" "1348" "0" "c.1348dup" "r.(?)" "p.(Ile450AsnfsTer26)" "" "0001060858" "00024040" "90" "5757" "0" "5758" "0" "c.5757_5758del" "r.(?)" "p.(Glu1921SerfsTer2)" "" "0001061780" "00024040" "90" "5381" "0" "5381" "0" "c.5381T>C" "r.(?)" "p.(Leu1794Pro)" "" "0001061781" "00024040" "90" "4307" "0" "4308" "0" "c.4307_4308del" "r.(?)" "p.(Gln1436ArgfsTer7)" "" "0001066194" "00024040" "50" "2012" "0" "2012" "0" "c.2012A>G" "r.(?)" "p.(His671Arg)" "" "0001066195" "00024040" "50" "1411" "0" "1411" "0" "c.1411C>G" "r.(?)" "p.(Pro471Ala)" "" "0001066196" "00024040" "50" "937" "0" "937" "0" "c.937G>A" "r.(?)" "p.(Val313Ile)" "" "0001066197" "00024040" "70" "-2813" "0" "-2813" "0" "c.-2813del" "r.(?)" "p.(=)" "" "0001068992" "00024040" "90" "733" "0" "734" "0" "c.733_734del" "r.(?)" "p.(Met245ValfsTer2)" "" "0001069047" "00024040" "90" "6520" "0" "6521" "0" "c.6520_6521del" "r.(?)" "p.(Tyr2174HisfsTer3)" "" "0001069199" "00024040" "50" "4615" "0" "4615" "0" "c.4615G>A" "r.(?)" "p.(Gly1539Ser)" "" "0001069272" "00024040" "70" "3080" "0" "3111" "0" "c.3080_3111dup" "r.(?)" "p.(Val1038TyrfsTer11)" "" "0001069315" "00024040" "90" "3075" "0" "3075" "0" "c.3075dup" "r.(?)" "p.(Glu1026ArgfsTer4)" "" "0001069366" "00024040" "70" "3743" "0" "3744" "0" "c.3743_3744insCTACC" "r.(?)" "p.(Ser1249TyrfsTer4)" "" "0001069369" "00024040" "90" "3075" "0" "3075" "0" "c.3075dup" "r.(?)" "p.(Glu1026ArgfsTer4)" "" "0001069378" "00024040" "50" "3332" "0" "3332" "0" "c.3332T>G" "r.(?)" "p.(Val1111Gly)" "" "0001069430" "00024040" "50" "6362" "0" "6362" "0" "c.6362T>C" "r.(?)" "p.(Leu2121Pro)" "" "0001069431" "00024040" "90" "5989" "0" "5992" "0" "c.5989_5992del" "r.(?)" "p.(Leu1997MetfsTer60)" "" "0001069451" "00024040" "90" "3075" "0" "3075" "0" "c.3075dup" "r.(?)" "p.(Glu1026ArgfsTer4)" "" "0001069504" "00024040" "70" "2873" "0" "2876" "0" "c.2873_2876del" "r.(?)" "p.(Glu958AlafsTer4)" "" "0001069513" "00024040" "50" "3122" "0" "3124" "0" "c.3122_3124del" "r.(?)" "p.(Arg1041del)" "" "0001069565" "00024040" "70" "80" "0" "80" "0" "c.80del" "r.(?)" "p.(Pro27ArgfsTer31)" "" "0001069649" "00024040" "70" "5473" "0" "5473" "0" "c.5473C>T" "r.(?)" "p.(Gln1825Ter)" "" "0001069676" "00024040" "90" "3075" "0" "3075" "0" "c.3075dup" "r.(?)" "p.(Glu1026ArgfsTer4)" "" "0001069716" "00024040" "90" "6811" "0" "6812" "0" "c.6811_6812del" "r.(?)" "p.(Leu2271AspfsTer68)" "" "0001069748" "00024040" "90" "733" "0" "734" "0" "c.733_734del" "r.(?)" "p.(Met245ValfsTer2)" "" "0001069782" "00024040" "90" "3075" "0" "3075" "0" "c.3075dup" "r.(?)" "p.(Glu1026ArgfsTer4)" "" "0001069831" "00024040" "90" "3075" "0" "3075" "0" "c.3075dup" "r.(?)" "p.(Glu1026ArgfsTer4)" "" "0001069898" "00024040" "70" "5510" "0" "5510" "0" "c.5510T>G" "r.(?)" "p.(Leu1837Ter)" "" "0001069900" "00024040" "90" "733" "0" "734" "0" "c.733_734del" "r.(?)" "p.(Met245ValfsTer2)" "" "0001069957" "00024040" "90" "3075" "0" "3075" "0" "c.3075dup" "r.(?)" "p.(Glu1026ArgfsTer4)" "" "0001070010" "00024040" "50" "3764" "0" "3764" "0" "c.3764T>A" "r.(?)" "p.(Val1255Asp)" "" "0001070076" "00024040" "90" "3075" "0" "3075" "0" "c.3075dup" "r.(?)" "p.(Glu1026ArgfsTer4)" "" "0001070131" "00024040" "90" "3687" "0" "3688" "0" "c.3687_3688insC" "r.(?)" "p.(Ile1230HisfsTer7)" "" "0001070157" "00024040" "70" "2012" "0" "2012" "0" "c.2012dup" "r.(?)" "p.(His671GlnfsTer2)" "10" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 140 "{{screeningid}}" "{{variantid}}" "0000039594" "0000067195" "0000039595" "0000067196" "0000039595" "0000067197" "0000047196" "0000075866" "0000047197" "0000075867" "0000047198" "0000075868" "0000047199" "0000075869" "0000059104" "0000090050" "0000059217" "0000090056" "0000059219" "0000090058" "0000059251" "0000090115" "0000059252" "0000090116" "0000059252" "0000090117" "0000059253" "0000090118" "0000059253" "0000090119" "0000059254" "0000090120" "0000059254" "0000090121" "0000059255" "0000090122" "0000059256" "0000090123" "0000059256" "0000090124" "0000059257" "0000090125" "0000059257" "0000090126" "0000059258" "0000090127" "0000059258" "0000090128" "0000059259" "0000090129" "0000059259" "0000090130" "0000059260" "0000090131" "0000059260" "0000090132" "0000059261" "0000090133" "0000059262" "0000090134" "0000059263" "0000090135" "0000059263" "0000090136" "0000081191" "0000130277" "0000145475" "0000237847" "0000151017" "0000244176" "0000184424" "0000408469" "0000219114" "0000453952" "0000275218" "0000629179" "0000290453" "0000647120" "0000292384" "0000649073" "0000292385" "0000649074" "0000292386" "0000649075" "0000292387" "0000649076" "0000292388" "0000649077" "0000292389" "0000649078" "0000292390" "0000649079" "0000292391" "0000649080" "0000292392" "0000649081" "0000296319" "0000653008" "0000296667" "0000653357" "0000296924" "0000659576" "0000297085" "0000659696" "0000297085" "0000659697" "0000297099" "0000659714" "0000297977" "0000660686" "0000301433" "0000664368" "0000306457" "0000670145" "0000307913" "0000674734" "0000308450" "0000682857" "0000319185" "0000701849" "0000325532" "0000708547" "0000326094" "0000880113" "0000363128" "0000763559" "0000363129" "0000763560" "0000373993" "0000784673" "0000373993" "0000784674" "0000375702" "0000787053" "0000375703" "0000787054" "0000375704" "0000787055" "0000375705" "0000787056" "0000375905" "0000787583" "0000375905" "0000787584" "0000405127" "0000841193" "0000405135" "0000841201" "0000405147" "0000841213" "0000405161" "0000841235" "0000405163" "0000841236" "0000405286" "0000841362" "0000405287" "0000841363" "0000405289" "0000841365" "0000405297" "0000841375" "0000405300" "0000841378" "0000405336" "0000841422" "0000405337" "0000841423" "0000405338" "0000841424" "0000405339" "0000841425" "0000405340" "0000841426" "0000408288" "0000845165" "0000408288" "0000845186" "0000408289" "0000845166" "0000409935" "0000847151" "0000409935" "0000847178" "0000415340" "0000873168" "0000415341" "0000873169" "0000415342" "0000873170" "0000415343" "0000873171" "0000429385" "0000908858" "0000429385" "0000908927" "0000433971" "0000919623" "0000436682" "0000927788" "0000444089" "0000945932" "0000448933" "0000958700" "0000448933" "0000959125" "0000457381" "0001011884" "0000457422" "0001011925" "0000457422" "0001012001" "0000457429" "0001011932" "0000469290" "0001049554" "0000471083" "0001059205" "0000471084" "0001059206" "0000472350" "0001060858" "0000473036" "0001061780" "0000473037" "0001061781" "0000474594" "0001068992" "0000474594" "0001070076" "0000474649" "0001069047" "0000474649" "0001070131" "0000474801" "0001069199" "0000474874" "0001069272" "0000474917" "0001069315" "0000474968" "0001069366" "0000474971" "0001069369" "0000474980" "0001069378" "0000475032" "0001069430" "0000475033" "0001069431" "0000475040" "0001070157" "0000475054" "0001069451" "0000475108" "0001069504" "0000475117" "0001069513" "0000475169" "0001069565" "0000475253" "0001069649" "0000475280" "0001069676" "0000475320" "0001069716" "0000475353" "0001069748" "0000475387" "0001069782" "0000475436" "0001069831" "0000475504" "0001069898" "0000475506" "0001069900" "0000475564" "0001069957" "0000475617" "0001070010"