### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SEMA6B) # 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}}" "SEMA6B" "sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B" "19" "p13.3" "unknown" "NC_000019.9" "UD_132438473422" "" "https://www.LOVD.nl/SEMA6B" "" "1" "10739" "10501" "608873" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/SEMA6B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-06-21 16:21:10" "00000" "2026-01-20 18:57:21" ## 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}}" "00018651" "SEMA6B" "sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B" "001" "NM_032108.3" "" "NP_115484.2" "" "" "" "-262" "3680" "2667" "4559771" "4542600" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00058" "CORD" "dystrophy, cone-rod (CORD)" "" "" "" "" "" "00006" "2012-09-22 11:31:25" "00006" "2020-08-30 09:43:59" "03454" "EPM" "epilepsy, myoclonic, progressive (EPM)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-03-01 10:29:51" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05903" "EPM11" "epilepsy, progressive myoclonic, type 11 (EPM11)" "AD" "608873" "" "" "" "00006" "2021-03-03 09:35:15" "" "" "06450" "EPM11" "Epilepsy, progressive myoclonic, 11" "AD" "618876" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SEMA6B" "05903" "SEMA6B" "06450" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00105047" "" "" "" "1" "" "01244" "{PMID:de Castro-Miró 2016:28005958}" "" "" "" "" "" "0" "" "" "" "66ORG" "00105214" "" "" "" "1" "" "01244" "{PMID:de Castro-Miró 2016:28005958}" "" "M" "" "Saudi Arabia" "" "0" "" "" "" "66ORG1" "00296271" "" "" "" "1" "" "00006" "{PMID:Hamanaka 2020:32169168}, {DOI:Hamanaka 2020:10.1016/j.ajhg.2020.02.011}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Japan" "" "0" "" "" "" "Fam1PatII1" "00296272" "" "" "" "1" "" "00006" "{PMID:Hamanaka 2020:32169168}, {DOI:Hamanaka 2020:10.1016/j.ajhg.2020.02.011}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Japan" "" "0" "" "" "" "Fam2PatII1" "00296273" "" "" "" "1" "" "00006" "{PMID:Hamanaka 2020:32169168}, {DOI:Hamanaka 2020:10.1016/j.ajhg.2020.02.011}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Israel" "" "0" "" "" "" "Fam3PatII4" "00296274" "" "" "" "1" "" "00006" "{PMID:Hamanaka 2020:32169168}, {DOI:Hamanaka 2020:10.1016/j.ajhg.2020.02.011}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Malaysia" "" "0" "" "" "" "Fam4PatII4" "00334899" "" "" "" "1" "" "03286" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "M" "no" "Australia" "" "0" "" "" "" "PME83" "00334902" "" "" "" "1" "" "03286" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "F" "no" "Canada" "" "0" "" "" "Italy" "PME25" "00381542" "" "" "" "1" "" "01164" "" "" "M" "?" "Turkey" "" "0" "" "" "" "183752" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00105047" "00058" "00105214" "00058" "00296271" "04270" "00296272" "04270" "00296273" "04270" "00296274" "04270" "00334899" "03454" "00334902" "03454" "00381542" "05903" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00058, 03454, 04270, 05903, 06450 ## Count = 9 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000082938" "00058" "00105047" "01244" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000083104" "00058" "00105214" "01244" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000223746" "04270" "00296271" "00006" "Isolated (sporadic)" "22y" "rolling over-12m,; meaningful words 24-36m; seizure, developmental delay; walk-1y5m; severe intellectual disability (IQ=25 17y); speech few words; no microcephaly; 6y-generalized tonic-clonic seizures, 9y-absence seizure, 11y-atonic seizure; seizure therapy intractable; regression motor skill and dysarthria; ataxia; intention tremor; rigidity; myoclonus; spasticity; increased deep tendon reflex upper and lower limbs; pathogenic reflex Rossolimo sign positive, Mendel-Bechterew sign positive; no dysmorphic features; wheelchair-bound; MRI brain normal; EEG abnormal discharge in right hemisphere (6 years), burst of diffuse irregular spikes and slow waves (9 years), diffuse spike and slow waves in frontal, parietal and temporal regions (14 years); somatosensory evoked potential prolonged N20 latency and high amplitude of P24-N33" "6y" "" "" "" "" "" "" "" "epilepsy" "0000223747" "04270" "00296272" "00006" "Isolated (sporadic)" "28y" "walking without support-28m; seizure; walk-2y4m; severe intellectual disability (IQ=25 12y); speech few words; microcephaly (−2.0 SD); 11m-generalized tonic-clonic seizures, 5y-loss of consciousness with abnormal eye movement, 10y-complex partial seizure, 10y-atonic seizure,; seizure therapy intractable; regression motor skill; ataxia; intention tremor; rigidity; myoclonus; spasticity; increased deep tendon reflex upper and lower limbs; no pathogenic reflex; no dysmorphic features; wheelchair-bound; MRI brain mild cerebellar atrophy; EEG diffuse slow wave with 2–3 Hz and spike-and-wave in bilateral frontal region (3 years and 4 years), diffuse theta waves with 4–5 Hz and spike-and-wave burst with 2–3 Hz (9 years), multifocal spikes in left parietal region and bilateral frontal regions (12 years), multispikes in left occipital region (13 years), slow waves at baselines (23 years); giant somatosensory evoked potential; systemic lupus erythematosus" "11m" "" "" "" "" "" "" "" "epilepsy" "0000223748" "04270" "00296273" "00006" "Isolated (sporadic)" "14y" "walking without support-24m; seizure; walk-2y; severe intellectual disability; no speech; microcephaly (−2.5 SD); 2y-absence seizure ; seizure therapy responsive; regression motor and verbal skills; ataxia; intention tremor; no dysmorphic features; wheelchair-bound; MRI brain small vermis; EEG abnormal background activity (1 year), slow abnormal sleep features with paucity of sleep spindles (13 years)" "2y" "" "" "" "" "" "" "" "epilepsy" "0000223749" "04270" "00296274" "00006" "Isolated (sporadic)" "11y" "eye pursuit-5m, walking without support-24m, meaningful words-30m; seizure and developmental delay; walk-2y; severe intellectual disability; speech few words; microcephaly (2nd percentile); 4y-atonic seizure; seizure therapy intractable, but improved by clobazam and sulthiame (responsive); regression; ataxia; intention tremor; myoclonus; no increased deep tendon reflex; no pathogenic reflex; no dysmorphic features; walking with support; MRI brain normal; EEG focal bifrontal epileptiform discharges accentuated during sleep (4 years), frequent frontocentral discharges during awake state (5 years), frequent intermittent slow spikes in right posterior region (11 years)" "4y" "" "" "" "" "" "" "" "epilepsy" "0000252755" "03454" "00334902" "03286" "Isolated (sporadic)" "" "Developmental delay. Walked independently at 2y; unsteady wide gait noted at 2.5y. Generalized epileptiform discharges recorded at 2.5yr. First TCS at 5y during illness. Recurrent convulsions some with a focal component. Resting and action myoclonus noted at 10y. Tremor. Increasing difficultly with gait from 11y; wheelchair by 14y. Dysarthria noted at 16y. Moderate intellectual disability; no definitive cognitive decline. No pyramidal signs and head circumference on 50th centile. Alive at 39y." "" "" "" "" "" "" "" "EPM11" "progressive myoclonus epilepsy , developmental delay" "0000252756" "03454" "00334899" "03286" "Isolated (sporadic)" "" "Developmental delay. Late walker and always unstaedy with tremor. Ataxia (approx 2.5y). Drop attacks and absence seizures (4y); TCS (11y); Wheelchair (11y);. Severe generalised and multifocal myoclonus (15y); myoclonic status. Slow cognitive regression from 5y. Severe intellectual disability. No pyramidal signs and head circumference normal. Alive age 37y." "" "" "" "" "" "" "" "EPM11" "progressive myoclonus epilepsy , developmental delay" "0000275390" "05903" "00381542" "01164" "Isolated (sporadic)" "14y" "Intellectual disability, Seizure, Generalized non-motor (absence) seizure, Intellectual disability, borderline, Stuttering, Enuresis" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000105520" "00105047" "1" "01244" "00006" "2017-06-16 16:27:33" "" "" "SEQ-NG-I" "DNA" "" "" "0000105687" "00105214" "1" "01244" "01244" "2017-06-20 13:16:42" "" "" "SEQ-NG-I" "DNA" "Whole blood" "" "0000297443" "00296271" "1" "00006" "00006" "2020-04-04 16:39:45" "" "" "SEQ-NG" "DNA" "" "WES" "0000297444" "00296272" "1" "00006" "00006" "2020-04-04 16:39:45" "" "" "SEQ-NG" "DNA" "" "WES" "0000297445" "00296273" "1" "00006" "00006" "2020-04-04 16:39:45" "" "" "SEQ-NG" "DNA" "" "WES" "0000297446" "00296274" "1" "00006" "00006" "2020-04-04 16:39:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000336128" "00334899" "1" "03286" "03286" "2021-03-02 12:18:49" "00006" "2021-04-14 09:22:08" "SEQ;SEQ-NG" "DNA" "WES" "" "0000336131" "00334902" "1" "03286" "03286" "2021-03-02 12:23:25" "00006" "2021-04-14 09:22:08" "SEQ;SEQ-NG" "DNA" "WES" "" "0000382758" "00381542" "1" "01164" "01164" "2021-09-01 14:21:14" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000105520" "SEMA6B" "0000297443" "SEMA6B" "0000297444" "SEMA6B" "0000297445" "SEMA6B" "0000297446" "SEMA6B" "0000382758" "SEMA6B" ## 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 = 52 "{{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}}" "0000170968" "3" "70" "19" "4555555" "4555555" "subst" "8.1608E-6" "01244" "SEMA6B_000001" "g.4555555C>T" "" "{PMID:de Castro-Miró 2016:28005958}" "" "" "" "Germline" "yes" "" "0" "" "" "g.4555543C>T" "" "VUS" "ACMG" "0000171140" "0" "70" "19" "4555555" "4555555" "subst" "8.1608E-6" "01244" "SEMA6B_000001" "g.4555555C>T" "" "{PMID:de Castro-Miró 2016:28005958}" "" "" "" "Germline" "" "" "0" "" "" "g.4555543C>T" "" "likely pathogenic" "" "0000326073" "0" "50" "19" "4546260" "4546260" "subst" "0" "01804" "SEMA6B_000002" "g.4546260C>A" "" "" "" "SEMA6B(NM_032108.3):c.1706G>T (p.(Gly569Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4546248C>A" "" "VUS" "" "0000567656" "0" "30" "19" "4543947" "4543947" "subst" "0" "01943" "SEMA6B_000003" "g.4543947C>G" "" "" "" "SEMA6B(NM_032108.4):c.2333G>C (p.R778P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4543935C>G" "" "likely benign" "" "0000567681" "0" "30" "19" "4558389" "4558389" "subst" "0" "01943" "SEMA6B_000004" "g.4558389A>G" "" "" "" "SEMA6B(NM_032108.4):c.81T>C (p.F27=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4558377A>G" "" "likely benign" "" "0000660072" "0" "90" "19" "4544311" "4544330" "dup" "0" "00006" "SEMA6B_000005" "g.4544311_4544330dup" "" "{PMID:Hamanaka 2020:32169168}, {DOI:Hamanaka 2020:10.1016/j.ajhg.2020.02.011}" "" "" "" "De novo" "" "" "0" "" "" "g.4544299_4544318dup" "" "pathogenic (dominant)" "" "0000660073" "0" "90" "19" "4544306" "4544312" "del" "0" "00006" "SEMA6B_000006" "g.4544306_4544312del" "" "{PMID:Hamanaka 2020:32169168}, {DOI:Hamanaka 2020:10.1016/j.ajhg.2020.02.011}" "" "" "" "De novo" "" "" "0" "" "" "g.4544294_4544300del" "" "pathogenic (dominant)" "" "0000660074" "0" "90" "19" "4544293" "4544293" "del" "0" "00006" "NPHS1_000138" "g.4544293del" "" "{PMID:Hamanaka 2020:32169168}, {DOI:Hamanaka 2020:10.1016/j.ajhg.2020.02.011}" "" "" "" "De novo" "" "" "0" "" "" "g.4544281del" "" "pathogenic (dominant)" "" "0000660075" "0" "90" "19" "4544293" "4544293" "del" "0" "00006" "NPHS1_000138" "g.4544293del" "" "{PMID:Hamanaka 2020:32169168}, {DOI:Hamanaka 2020:10.1016/j.ajhg.2020.02.011}" "" "" "" "De novo" "" "" "0" "" "" "g.4544281del" "" "pathogenic (dominant)" "" "0000727422" "0" "50" "19" "4544175" "4544175" "subst" "0" "01943" "SEMA6B_000007" "g.4544175A>G" "" "" "" "SEMA6B(NM_032108.4):c.2105T>C (p.L702P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727423" "0" "30" "19" "4544219" "4544219" "subst" "0" "01943" "SEMA6B_000008" "g.4544219G>A" "" "" "" "SEMA6B(NM_032108.4):c.2061C>T (p.N687=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727425" "0" "30" "19" "4546243" "4546243" "subst" "1.63898E-5" "01943" "SEMA6B_000009" "g.4546243A>C" "" "" "" "SEMA6B(NM_032108.4):c.1723T>G (p.L575V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727428" "0" "30" "19" "4552619" "4552619" "subst" "2.06702E-5" "01943" "SEMA6B_000010" "g.4552619C>T" "" "" "" "SEMA6B(NM_032108.4):c.804G>A (p.K268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727429" "0" "50" "19" "4554443" "4554445" "del" "0" "02325" "SEMA6B_000011" "g.4554443_4554445del" "" "" "" "SEMA6B(NM_032108.4):c.733_735delTTC (p.F245del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000735195" "0" "90" "19" "4544288" "4544288" "del" "0" "03286" "SEMA6B_000013" "g.4544288del" "" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "1993delC" "ACMG PVS1, PM2, PM6; The patient\'s electroclinical phenotype is consistent with the recent report of PME due to pathogenic variants in SEMA6B. The frameshift variant identified in this patient and subsequently confirmed de novois located within the same last exon of all previously reported cases. Thus, the phenotype is compatible for the genetic finding." "De novo" "" "" "0" "" "" "g.4544276del" "" "pathogenic" "ACMG" "0000735199" "0" "70" "19" "4544248" "4544248" "del" "0" "03286" "SEMA6B_000012" "g.4544248del" "" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "2032delG" "ACMG PVS1, PM2; The patient\'s electroclinical phenotype is consistent with the recent report of PME due to pathogenic variants in SEMA6B. The frameshift variant identified in this patient is located within the same last exon of all previously reported cases. Whilst the phenotype is compatible with SEMA6B mutation, in the absence of parental DNA to confirm the variant as de novowe remain cautious and report this finding with moderate confidence." "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000796602" "0" "50" "19" "4543908" "4543908" "subst" "0" "01164" "SEMA6B_000014" "g.4543908G>C" "" "" "" "" "ACMG: PM1, PM2_SUP; p.Pro791 is located in a highly missense intolerant region of the SEMA6B gene (ExAC regional missense constraint score: 0,08)" "Germline" "?" "" "" "" "" "" "" "VUS (!)" "ACMG" "0000808922" "0" "50" "19" "4543920" "4543920" "subst" "0" "01943" "SEMA6B_000015" "g.4543920A>C" "" "" "" "SEMA6B(NM_032108.4):c.2360T>G (p.F787C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808923" "0" "30" "19" "4543938" "4543938" "subst" "0" "01943" "SEMA6B_000016" "g.4543938C>A" "" "" "" "SEMA6B(NM_032108.4):c.2342G>T (p.R781L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808927" "0" "50" "19" "4546246" "4546246" "subst" "8.19444E-6" "02325" "SEMA6B_000017" "g.4546246C>T" "" "" "" "SEMA6B(NM_032108.4):c.1720G>A (p.G574S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855612" "0" "50" "19" "4543626" "4543626" "subst" "0" "02325" "SEMA6B_000018" "g.4543626G>A" "" "" "" "SEMA6B(NM_032108.4):c.2654C>T (p.P885L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855614" "0" "30" "19" "4548150" "4548150" "subst" "0.000114653" "01943" "SEMA6B_000019" "g.4548150C>T" "" "" "" "SEMA6B(NM_032108.4):c.1490G>A (p.R497Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855615" "0" "30" "19" "4552457" "4552457" "subst" "0" "01943" "SEMA6B_000022" "g.4552457G>A" "" "" "" "SEMA6B(NM_032108.4):c.966C>T (p.A322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855618" "0" "50" "19" "4555020" "4555020" "subst" "4.06488E-6" "01943" "SEMA6B_000023" "g.4555020C>T" "" "" "" "SEMA6B(NM_032108.4):c.650G>A (p.R217H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855619" "0" "30" "19" "4558446" "4558446" "subst" "0" "01943" "SEMA6B_000025" "g.4558446A>T" "" "" "" "SEMA6B(NM_032108.4):c.24T>A (p.P8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866175" "0" "30" "19" "4548280" "4548280" "subst" "0" "01943" "SEMA6B_000020" "g.4548280C>G" "" "" "" "SEMA6B(NM_032108.4):c.1449G>C (p.P483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866176" "0" "30" "19" "4548429" "4548429" "subst" "4.10644E-5" "01943" "SEMA6B_000021" "g.4548429C>T" "" "" "" "SEMA6B(NM_032108.4):c.1300G>A (p.V434M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866178" "0" "30" "19" "4558433" "4558433" "subst" "0" "01943" "SEMA6B_000024" "g.4558433G>A" "" "" "" "SEMA6B(NM_032108.4):c.37C>T (p.L13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926905" "0" "50" "19" "4546468" "4546468" "subst" "0" "02325" "SEMA6B_000026" "g.4546468T>G" "" "" "" "SEMA6B(NM_032108.4):c.1615A>C (p.S539R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931071" "0" "50" "19" "4556052" "4556052" "subst" "8.12196E-6" "02325" "SEMA6B_000027" "g.4556052G>A" "" "" "" "SEMA6B(NM_032108.4):c.419C>T (p.T140M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983527" "0" "30" "19" "4543922" "4543922" "subst" "0" "01804" "SEMA6B_000028" "g.4543922G>T" "" "" "" "SEMA6B(NM_032108.4):c.2358C>A (p.(Asp786Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983528" "0" "30" "19" "4550921" "4550921" "subst" "2.8491E-5" "01804" "SEMA6B_000029" "g.4550921G>A" "" "" "" "SEMA6B(NM_032108.4):c.1011C>T (p.(Cys337=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983529" "0" "50" "19" "4557195" "4557195" "subst" "0" "01804" "SEMA6B_000030" "g.4557195T>C" "" "" "" "SEMA6B(NM_032108.4):c.286A>G (p.(Thr96Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004870" "0" "50" "19" "4543840" "4543840" "subst" "0" "01804" "SEMA6B_000031" "g.4543840C>T" "" "" "" "SEMA6B(NM_032108.3):c.2440G>A (p.(Ala814Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004871" "0" "30" "19" "4543906" "4543906" "subst" "0" "01804" "SEMA6B_000032" "g.4543906G>C" "" "" "" "SEMA6B(NM_032108.3):c.2374C>G (p.(His792Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004872" "0" "50" "19" "4544349" "4544349" "subst" "1.60676E-5" "01804" "SEMA6B_000033" "g.4544349G>A" "" "" "" "SEMA6B(NM_032108.3):c.1931C>T (p.(Ala644Val)), SEMA6B(NM_032108.4):c.1931C>T (p.A644V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004876" "0" "50" "19" "4548163" "4548163" "subst" "0" "01804" "SEMA6B_000034" "g.4548163C>T" "" "" "" "SEMA6B(NM_032108.3):c.1477G>A (p.(Glu493Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004877" "0" "50" "19" "4556060" "4556060" "subst" "1.2183E-5" "01804" "SEMA6B_000035" "g.4556060G>C" "" "" "" "SEMA6B(NM_032108.3):c.411C>G (p.(Asp137Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015803" "0" "50" "19" "4544349" "4544349" "subst" "1.60676E-5" "02325" "SEMA6B_000033" "g.4544349G>A" "" "" "" "SEMA6B(NM_032108.3):c.1931C>T (p.(Ala644Val)), SEMA6B(NM_032108.4):c.1931C>T (p.A644V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015806" "0" "30" "19" "4550183" "4550183" "subst" "0.00109472" "02325" "SEMA6B_000036" "g.4550183G>A" "" "" "" "SEMA6B(NM_032108.4):c.1223C>T (p.A408V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015807" "0" "50" "19" "4550934" "4550934" "subst" "0" "02327" "SEMA6B_000037" "g.4550934C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027233" "0" "50" "19" "4544273" "4544278" "del" "0" "02325" "SEMA6B_000038" "g.4544273_4544278del" "" "" "" "SEMA6B(NM_032108.4):c.2012_2017delGTGGCG (p.G671_G672del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043031" "0" "50" "19" "4543648" "4543648" "dup" "0" "01804" "SEMA6B_000039" "g.4543648dup" "" "" "" "SEMA6B(NM_032108.4):c.2638dup (p.(Ala880GlyfsTer144))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043032" "0" "50" "19" "4554460" "4554460" "subst" "0" "01804" "SEMA6B_000040" "g.4554460C>T" "" "" "" "SEMA6B(NM_032108.4):c.711G>A (p.(Trp237*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043033" "0" "30" "19" "4556104" "4556104" "subst" "1.62591E-5" "01804" "SEMA6B_000041" "g.4556104G>A" "" "" "" "SEMA6B(NM_032108.4):c.370-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046740" "0" "30" "19" "4548150" "4548150" "subst" "0.000114653" "02326" "SEMA6B_000019" "g.4548150C>T" "" "" "" "SEMA6B(NM_032108.4):c.1490G>A (p.R497Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001057700" "0" "30" "19" "4550271" "4550271" "subst" "0.000302258" "03779" "SEMA6B_000042" "g.4550271C>T" "" "" "" "" "" "Unknown" "" "rs529978613" "0" "" "" "" "" "likely benign" "" "0001067062" "0" "30" "19" "4548150" "4548150" "subst" "0.000114653" "02325" "SEMA6B_000019" "g.4548150C>T" "" "" "" "SEMA6B(NM_032108.4):c.1490G>A (p.R497Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001067063" "0" "50" "19" "4550139" "4550139" "subst" "0" "02325" "SEMA6B_000043" "g.4550139T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067064" "0" "50" "19" "4550899" "4550899" "subst" "4.06669E-6" "02325" "SEMA6B_000044" "g.4550899C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067065" "0" "50" "19" "4552594" "4552594" "subst" "4.11689E-6" "02325" "SEMA6B_000045" "g.4552594C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067066" "0" "30" "19" "4552639" "4552639" "subst" "1.26229E-5" "02325" "SEMA6B_000046" "g.4552639G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 SEMA6B ## Count = 52 "{{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}}" "0000170968" "00018651" "70" "493" "0" "493" "0" "c.493G>A" "r.(?)" "p.(Gly165Arg)" "" "0000171140" "00018651" "70" "493" "0" "493" "0" "c.493G>A" "r.(?)" "p.(Gly165Arg)" "7" "0000326073" "00018651" "50" "1706" "0" "1706" "0" "c.1706G>T" "r.(?)" "p.(Gly569Val)" "" "0000567656" "00018651" "30" "2333" "0" "2333" "0" "c.2333G>C" "r.(?)" "p.(Arg778Pro)" "" "0000567681" "00018651" "30" "81" "0" "81" "0" "c.81T>C" "r.(?)" "p.(Phe27=)" "" "0000660072" "00018651" "90" "1950" "0" "1969" "0" "c.1950_1969dup" "r.(?)" "p.(Arg657Profs*35)" "" "0000660073" "00018651" "90" "1976" "0" "1982" "0" "c.1976_1982del" "r.(?)" "p.(Ala659Valfs*24)" "" "0000660074" "00018651" "90" "1991" "0" "1991" "0" "c.1991del" "r.(?)" "p.(Gly664Alafs*21)" "" "0000660075" "00018651" "90" "1991" "0" "1991" "0" "c.1991del" "r.(?)" "p.(Gly664Alafs*21)" "" "0000727422" "00018651" "50" "2105" "0" "2105" "0" "c.2105T>C" "r.(?)" "p.(Leu702Pro)" "" "0000727423" "00018651" "30" "2061" "0" "2061" "0" "c.2061C>T" "r.(?)" "p.(Asn687=)" "" "0000727425" "00018651" "30" "1723" "0" "1723" "0" "c.1723T>G" "r.(?)" "p.(Leu575Val)" "" "0000727428" "00018651" "30" "804" "0" "804" "0" "c.804G>A" "r.(?)" "p.(Lys268=)" "" "0000727429" "00018651" "50" "733" "0" "735" "0" "c.733_735del" "r.(?)" "p.(Phe245del)" "" "0000735195" "00018651" "90" "1993" "0" "1993" "0" "c.1993del" "r.(?)" "p.(Arg665Glyfs*20)" "" "0000735199" "00018651" "70" "2032" "0" "2032" "0" "c.2032del" "r.(?)" "p.(Glu678Argfs*7)" "" "0000796602" "00018651" "50" "2372" "0" "2372" "0" "c.2372C>G" "r.(?)" "p.(Pro791Arg)" "" "0000808922" "00018651" "50" "2360" "0" "2360" "0" "c.2360T>G" "r.(?)" "p.(Phe787Cys)" "" "0000808923" "00018651" "30" "2342" "0" "2342" "0" "c.2342G>T" "r.(?)" "p.(Arg781Leu)" "" "0000808927" "00018651" "50" "1720" "0" "1720" "0" "c.1720G>A" "r.(?)" "p.(Gly574Ser)" "" "0000855612" "00018651" "50" "2654" "0" "2654" "0" "c.2654C>T" "r.(?)" "p.(Pro885Leu)" "" "0000855614" "00018651" "30" "1490" "0" "1490" "0" "c.1490G>A" "r.(?)" "p.(Arg497Gln)" "" "0000855615" "00018651" "30" "966" "0" "966" "0" "c.966C>T" "r.(?)" "p.(Ala322=)" "" "0000855618" "00018651" "50" "650" "0" "650" "0" "c.650G>A" "r.(?)" "p.(Arg217His)" "" "0000855619" "00018651" "30" "24" "0" "24" "0" "c.24T>A" "r.(?)" "p.(Pro8=)" "" "0000866175" "00018651" "30" "1449" "0" "1449" "0" "c.1449G>C" "r.(?)" "p.(Pro483=)" "" "0000866176" "00018651" "30" "1300" "0" "1300" "0" "c.1300G>A" "r.(?)" "p.(Val434Met)" "" "0000866178" "00018651" "30" "37" "0" "37" "0" "c.37C>T" "r.(?)" "p.(Leu13=)" "" "0000926905" "00018651" "50" "1615" "0" "1615" "0" "c.1615A>C" "r.(?)" "p.(Ser539Arg)" "" "0000931071" "00018651" "50" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Thr140Met)" "" "0000983527" "00018651" "30" "2358" "0" "2358" "0" "c.2358C>A" "r.(?)" "p.(Asp786Glu)" "" "0000983528" "00018651" "30" "1011" "0" "1011" "0" "c.1011C>T" "r.(?)" "p.(=)" "" "0000983529" "00018651" "50" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Thr96Ala)" "" "0001004870" "00018651" "50" "2440" "0" "2440" "0" "c.2440G>A" "r.(?)" "p.(Ala814Thr)" "" "0001004871" "00018651" "30" "2374" "0" "2374" "0" "c.2374C>G" "r.(?)" "p.(His792Asp)" "" "0001004872" "00018651" "50" "1931" "0" "1931" "0" "c.1931C>T" "r.(?)" "p.(Ala644Val)" "" "0001004876" "00018651" "50" "1477" "0" "1477" "0" "c.1477G>A" "r.(?)" "p.(Glu493Lys)" "" "0001004877" "00018651" "50" "411" "0" "411" "0" "c.411C>G" "r.(?)" "p.(Asp137Glu)" "" "0001015803" "00018651" "50" "1931" "0" "1931" "0" "c.1931C>T" "r.(?)" "p.(Ala644Val)" "" "0001015806" "00018651" "30" "1223" "0" "1223" "0" "c.1223C>T" "r.(?)" "p.(Ala408Val)" "" "0001015807" "00018651" "50" "998" "0" "998" "0" "c.998G>A" "r.(?)" "p.(Gly333Asp)" "" "0001027233" "00018651" "50" "2012" "0" "2017" "0" "c.2012_2017del" "r.(?)" "p.(Gly671_Gly672del)" "" "0001043031" "00018651" "50" "2638" "0" "2638" "0" "c.2638dup" "r.(?)" "p.(Ala880Glyfs*144)" "" "0001043032" "00018651" "50" "711" "0" "711" "0" "c.711G>A" "r.(?)" "p.(Trp237*)" "" "0001043033" "00018651" "30" "370" "-3" "370" "-3" "c.370-3C>T" "r.spl?" "p.?" "" "0001046740" "00018651" "30" "1490" "0" "1490" "0" "c.1490G>A" "r.(?)" "p.(Arg497Gln)" "" "0001057700" "00018651" "30" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Ala379Thr)" "" "0001067062" "00018651" "30" "1490" "0" "1490" "0" "c.1490G>A" "r.(?)" "p.(Arg497Gln)" "" "0001067063" "00018651" "50" "1267" "0" "1267" "0" "c.1267A>G" "r.(?)" "p.(Met423Val)" "" "0001067064" "00018651" "50" "1033" "0" "1033" "0" "c.1033G>A" "r.(?)" "p.(Ala345Thr)" "" "0001067065" "00018651" "50" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Val277Met)" "" "0001067066" "00018651" "30" "784" "0" "784" "0" "c.784C>T" "r.(?)" "p.(Arg262Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000105520" "0000170968" "0000105687" "0000171140" "0000297443" "0000660072" "0000297444" "0000660073" "0000297445" "0000660074" "0000297446" "0000660075" "0000336128" "0000735195" "0000336131" "0000735199" "0000382758" "0000796602"