### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KLC2) # 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}}" "KLC2" "kinesin light chain 2" "11" "q13.1" "unknown" "NC_000011.9" "UD_132465727119" "" "https://www.LOVD.nl/KLC2" "" "1" "20716" "64837" "611729" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/KLC2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-05-04 08:52:20" "00000" "2023-01-11 15:44:22" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00010637" "KLC2" "transcript variant 1" "004" "NM_022822.2" "" "NP_073733.1" "" "" "" "-217" "2773" "1869" "66025174" "66035331" "" "0000-00-00 00:00:00" "" "" "00025610" "KLC2" "transcript variant 3" "001" "NM_001134775.1" "" "NP_001128247.1" "" "" "" "-243" "2773" "1869" "66024765" "66035331" "00006" "2021-05-04 09:12:19" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05927" "SPOAN" "paraplegia, spastic, optic atrophy, and neuropathy (SPOAN)" "AR" "609541" "" "" "" "00006" "2021-05-04 08:53:59" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "KLC2" "05927" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00371664" "" "" "" "73" "" "00006" "{PMID:Melo 2015:26385635}" "73 patients" "F;M" "" "Brazil" "" "0" "" "" "" "patients" "00371665" "" "" "" "2" "" "00006" "{PMID:Melo 2015:26385635}" "family, 2 affected sibs" "" "" "Egypt" "" "0" "" "" "" "Family" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00371664" "05927" "00371665" "05927" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05927 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000267001" "05927" "00371664" "00006" "Familial, autosomal recessive" "" "progressive spastic paraplegia in infancy, progressive motor and sensory axonal neuropathy in late childhood/early adolescence leading to severe motor disability; >15y-wheelchair bound, progressive joint contractures, spine deformities; subnormal vision secondary to apparently non-progressive congenital optic atrophy, dysarthria starting third decade of life, exacerbated acoustic startle response; no intellectual disability" "" "" "" "" "" "" "SPOAN" "spastic paraplegia, optic atrophy, neuropathy" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000372892" "00371664" "1" "00006" "00006" "2021-05-04 09:06:24" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES, WGS" "0000372893" "00371665" "1" "00006" "00006" "2021-05-04 09:19:51" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000372892" "KLC2" "0000372893" "KLC2" ## 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 = 4 "{{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}}" "0000545067" "0" "50" "11" "66024960" "66024960" "subst" "0" "01943" "KLC2_000001" "g.66024960G>A" "" "" "" "KLC2(NM_001134775.1):c.-49+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.66257489G>A" "" "VUS" "" "0000780176" "3" "90" "11" "66024557" "66024773" "del" "0" "00006" "KLC2_000002" "g.66024557_66024773del" "" "{PMID:Melo 2015:26385635}" "" "" "1.48 to 1.74 increased KLC2 expression; not in 474 controls" "Germline" "" "" "0" "" "" "g.66257086_66257302del" "" "pathogenic (recessive)" "" "0000780177" "3" "90" "11" "66024557" "66024773" "del" "0" "00006" "KLC2_000002" "g.66024557_66024773del" "" "{PMID:Melo 2015:26385635}" "" "" "" "Germline" "" "" "0" "" "" "g.66257086_66257302del" "" "pathogenic (recessive)" "" "0000913663" "0" "30" "11" "66029275" "66029275" "subst" "0.00213767" "02326" "KLC2_000003" "g.66029275G>A" "" "" "" "KLC2(NM_022822.3):c.291G>A (p.A97=)" "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 KLC2 ## Count = 8 "{{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}}" "0000545067" "00025610" "50" "-49" "1" "-49" "1" "c.-49+1G>A" "r.spl?" "p.?" "" "0000545067" "00010637" "50" "-431" "0" "-431" "0" "c.-431G>A" "r.(?)" "p.(=)" "" "0000780176" "00025610" "90" "0" "0" "0" "0" "c.-243_-235{0}" "r.?" "p.?" "_1_1" "0000780176" "00010637" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "_1" "0000780177" "00025610" "90" "0" "0" "0" "0" "c.-243_-235{0}" "r.?" "p.?" "_1_1" "0000780177" "00010637" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "_1" "0000913663" "00025610" "30" "291" "0" "291" "0" "c.291G>A" "r.(?)" "p.(Ala97=)" "" "0000913663" "00010637" "30" "291" "0" "291" "0" "c.291G>A" "r.(?)" "p.(Ala97=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000372892" "0000780176" "0000372893" "0000780177"