### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KCNAB2) # 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}}" "KCNAB2" "potassium voltage-gated channel, shaker-related subfamily, beta member 2" "1" "p36.3" "unknown" "NG_047091.1" "UD_132439016318" "" "https://www.LOVD.nl/KCNAB2" "" "1" "6229" "8514" "601142" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-02-16 20:38:03" "00000" "2025-05-05 21:14:00" ## 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}}" "00025376" "KCNAB2" "transcript variant 1" "005" "NM_003636.3" "" "NP_003627.1" "" "" "" "-485" "3723" "1104" "6086073" "6161253" "00006" "2019-02-16 20:35:23" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "04212" "BBS" "Bardet-Biedl syndrome (BBS)" "" "" "" "" "" "00006" "2015-02-27 19:01:43" "" "" "05476" "SEMDSP" "dysplasia, spondyloepimetaphyseal, SPONASTRIME type (SEMDSP)" "AR" "271510" "" "autosomal recesive" "" "00006" "2018-10-20 03:14:40" "00006" "2020-05-19 10:37:38" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "00225452" "" "" "" "1" "" "00006" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Brazil" "" "0" "" "" "African black;non-Latin European" "-Pat4" "00358819" "" "" "" "1" "" "00000" "{PMID:Lindstrand 2016:27486776}" "" "M" "yes" "United States" "" "0" "" "" "" "AR811-03" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00225452" "05476" "00358819" "04212" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04212, 05476 ## Count = 2 "{{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}}" "0000170567" "05476" "00225452" "00006" "Familial, autosomal recessive" "2y2m" "see paper; …" "" "" "" "" "" "" "" "" "SPONASTRIME dysplasia" "0000254034" "04212" "00358819" "00000" "Unknown" "4y" "see paper; ..." "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" ## 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}}" "0000226531" "00225452" "1" "00006" "00006" "2019-02-16 14:29:08" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000360049" "00358819" "1" "00000" "00006" "2021-03-12 18:57:14" "" "" "arrayCGH;PCRlr;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000226531" "TONSL" "0000360049" "NPHP4" ## 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 = 24 "{{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}}" "0000320495" "0" "50" "1" "6111682" "6111682" "subst" "3.11352E-5" "01804" "KCNAB2_000001" "g.6111682C>T" "" "" "" "KCNAB2(NM_001199862.1):c.86C>T (p.(Thr29Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6051622C>T" "" "VUS" "" "0000320496" "0" "50" "1" "6111718" "6111718" "subst" "0.00158967" "01804" "KCNAB2_000002" "g.6111718G>A" "" "" "" "KCNAB2(NM_001199862.1):c.122G>A (p.(Arg41Gln)), KCNAB2(NM_001199862.2):c.122G>A (p.R41Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6051658G>A" "" "VUS" "" "0000458831" "3" "50" "1" "6111610" "6111610" "subst" "0.000425431" "00006" "KCNAB2_000003" "g.6111610C>T" "" "{DOI:Reynhout 2019:10.1016/j.ajhg.2019.01.009}" "" "Thr5Met" "" "Germline" "" "" "0" "" "" "g.6051550C>T" "" "VUS" "" "0000508087" "0" "50" "1" "6155669" "6155670" "del" "0" "02327" "KCNAB2_000004" "g.6155669_6155670del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6095609_6095610del" "" "VUS" "" "0000759727" "0" "90" "1" "6051187" "6158763" "dup" "0" "00000" "KCNAB2_000005" "g.6051187_6158763dup" "" "{PMID:Lindstrand 2016:27486776}" "" "dup exon1_28; normal exon29; het dup exon 30" "79,389bp duplication" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000799468" "0" "50" "1" "6155501" "6155501" "subst" "0" "02327" "KCNAB2_000006" "g.6155501T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974053" "0" "30" "1" "6158547" "6158547" "subst" "4.08797E-6" "01804" "CHD5_000016" "g.6158547C>T" "" "" "" "KCNAB2(NM_001199862.2):c.1161C>T (p.(Val387=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991361" "0" "30" "1" "6111718" "6111718" "subst" "0.00158967" "02330" "KCNAB2_000002" "g.6111718G>A" "" "" "" "KCNAB2(NM_001199862.1):c.122G>A (p.(Arg41Gln)), KCNAB2(NM_001199862.2):c.122G>A (p.R41Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991362" "0" "10" "1" "6111757" "6111757" "subst" "0.0262312" "02330" "KCNAB2_000007" "g.6111757G>A" "" "" "" "KCNAB2(NM_001199862.2):c.161G>A (p.R54H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000991363" "0" "10" "1" "6111824" "6111824" "subst" "0.000400549" "02330" "KCNAB2_000008" "g.6111824G>A" "" "" "" "KCNAB2(NM_001199862.2):c.218+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000991364" "0" "10" "1" "6142308" "6142308" "subst" "0.0864068" "02330" "KCNAB2_000009" "g.6142308T>C" "" "" "" "KCNAB2(NM_001199862.2):c.354T>C (p.D118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000991365" "0" "10" "1" "6149053" "6149053" "subst" "0.0928118" "02330" "KCNAB2_000010" "g.6149053C>T" "" "" "" "KCNAB2(NM_001199862.2):c.471-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000991366" "0" "10" "1" "6149122" "6149122" "subst" "0.0939152" "02330" "KCNAB2_000011" "g.6149122G>A" "" "" "" "KCNAB2(NM_001199862.2):c.514+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000991367" "0" "50" "1" "6150508" "6150508" "subst" "8.14545E-6" "02330" "KCNAB2_000012" "g.6150508C>T" "" "" "" "KCNAB2(NM_001199862.2):c.574C>T (p.R192C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991370" "0" "10" "1" "6157434" "6157434" "subst" "0.467844" "02330" "CHD5_000025" "g.6157434C>T" "" "" "" "KCNAB2(NM_001199862.2):c.1158+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000991371" "0" "10" "1" "6158562" "6158562" "subst" "0.574499" "02330" "CHD5_000026" "g.6158562A>G" "" "" "" "KCNAB2(NM_001199862.2):c.1176A>G (p.S392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001013335" "0" "10" "1" "6111721" "6111721" "subst" "0.00394426" "02330" "KCNAB2_000013" "g.6111721C>T" "" "" "" "KCNAB2(NM_001199862.2):c.125C>T (p.A42V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001013336" "0" "10" "1" "6150431" "6150431" "subst" "0.000554779" "02330" "KCNAB2_000014" "g.6150431C>G" "" "" "" "KCNAB2(NM_001199862.2):c.515-18C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001024192" "0" "10" "1" "6111689" "6111689" "subst" "4.67618E-5" "02330" "KCNAB2_000015" "g.6111689G>A" "" "" "" "KCNAB2(NM_001199862.2):c.93G>A (p.T31=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001024193" "0" "30" "1" "6111717" "6111717" "subst" "7.87191E-5" "02330" "KCNAB2_000016" "g.6111717C>T" "" "" "" "KCNAB2(NM_001199862.2):c.121C>T (p.R41W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024194" "0" "10" "1" "6145273" "6145273" "subst" "0.00294554" "02330" "KCNAB2_000017" "g.6145273G>A" "" "" "" "KCNAB2(NM_001199862.2):c.390G>A (p.V130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001024196" "0" "50" "1" "6158643" "6158643" "subst" "3.69452E-5" "02330" "CHD5_000034" "g.6158643C>T" "" "" "" "KCNAB2(NM_001199862.2):c.*9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032137" "0" "10" "1" "6142329" "6142329" "subst" "0.00963242" "02330" "KCNAB2_000018" "g.6142329C>T" "" "" "" "KCNAB2(NM_001199862.2):c.375C>T (p.A125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001032138" "0" "10" "1" "6142344" "6142348" "del" "0" "02330" "KCNAB2_000019" "g.6142344_6142348del" "" "" "" "KCNAB2(NM_001199862.2):c.380+10_380+14delTTTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 KCNAB2 ## Count = 24 "{{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}}" "0000320495" "00025376" "50" "119" "9750" "119" "9750" "c.119+9750C>T" "r.(=)" "p.(=)" "" "0000320496" "00025376" "50" "119" "9786" "119" "9786" "c.119+9786G>A" "r.(=)" "p.(=)" "" "0000458831" "00025376" "50" "119" "9678" "119" "9678" "c.119+9678C>T" "r.(?)" "p.(=)" "" "0000508087" "00025376" "50" "789" "0" "790" "0" "c.789_790del" "r.(?)" "p.(Arg264SerfsTer16)" "" "0000759727" "00025376" "90" "-35371" "0" "1233" "0" "c.-35371_*129dup" "r.?" "p.?" "" "0000799468" "00025376" "50" "707" "0" "707" "0" "c.707T>C" "r.(?)" "p.(Ile236Thr)" "" "0000974053" "00025376" "30" "1017" "0" "1017" "0" "c.1017C>T" "r.(?)" "p.(=)" "" "0000991361" "00025376" "30" "119" "9786" "119" "9786" "c.119+9786G>A" "r.(=)" "p.(=)" "" "0000991362" "00025376" "10" "119" "9825" "119" "9825" "c.119+9825G>A" "r.(=)" "p.(=)" "" "0000991363" "00025376" "10" "119" "9892" "119" "9892" "c.119+9892G>A" "r.(=)" "p.(=)" "" "0000991364" "00025376" "10" "255" "0" "255" "0" "c.255T>C" "r.(?)" "p.(=)" "" "0000991365" "00025376" "10" "372" "-15" "372" "-15" "c.372-15C>T" "r.(=)" "p.(=)" "" "0000991366" "00025376" "10" "415" "11" "415" "11" "c.415+11G>A" "r.(=)" "p.(=)" "" "0000991367" "00025376" "50" "475" "0" "475" "0" "c.475C>T" "r.(?)" "p.(Arg159Cys)" "" "0000991370" "00025376" "10" "1014" "17" "1014" "17" "c.1014+17C>T" "r.(=)" "p.(=)" "" "0000991371" "00025376" "10" "1032" "0" "1032" "0" "c.1032A>G" "r.(?)" "p.(=)" "" "0001013335" "00025376" "10" "119" "9789" "119" "9789" "c.119+9789C>T" "r.(=)" "p.(=)" "" "0001013336" "00025376" "10" "416" "-18" "416" "-18" "c.416-18C>G" "r.(=)" "p.(=)" "" "0001024192" "00025376" "10" "119" "9757" "119" "9757" "c.119+9757G>A" "r.(=)" "p.(=)" "" "0001024193" "00025376" "30" "119" "9785" "119" "9785" "c.119+9785C>T" "r.(=)" "p.(=)" "" "0001024194" "00025376" "10" "291" "0" "291" "0" "c.291G>A" "r.(?)" "p.(=)" "" "0001024196" "00025376" "50" "1113" "0" "1113" "0" "c.*9C>T" "r.(=)" "p.(=)" "" "0001032137" "00025376" "10" "276" "0" "276" "0" "c.276C>T" "r.(?)" "p.(=)" "" "0001032138" "00025376" "10" "281" "10" "281" "14" "c.281+10_281+14del" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000226531" "0000458831" "0000360049" "0000759727"