### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DNMBP) # 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}}" "DNMBP" "dynamin binding protein" "10" "q24.31" "unknown" "NC_000010.10" "UD_132319367846" "" "https://www.LOVD.nl/DNMBP" "" "1" "30373" "23268" "611282" "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/DNMBP_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-10-28 22:24:08" "00000" "2022-05-09 15:51:19" ## 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}}" "00006602" "DNMBP" "dynamin binding protein" "001" "NM_015221.2" "" "NP_056036.1" "" "" "" "-92" "6308" "4734" "101769676" "101635334" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "06093" "CTRCT48" "Cataract 48" "AR" "618415" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DNMBP" "06093" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00183318" "" "" "" "2" "" "00006" "{PMID:Ansar 2018:30290152}" "4-generation family, 2 affected, sisters unaffected heterozygous carrier parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "30290152-FamF372" "00183319" "" "" "" "9" "" "00006" "{PMID:Ansar 2018:30290152}" "5-generation family, 9 affected (5F, 4M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "30290152-FamF385" "00183320" "" "" "" "2" "" "00006" "{PMID:Ansar 2018:30290152}" "2-generation family, 2 affected (2F), unaffected heterozygous carrier parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "30290152-FamF3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00183318" "00296" "00183319" "00296" "00183320" "00296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00296, 06093 ## Count = 3 "{{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}}" "0000144055" "00296" "00183318" "00006" "Familial, autosomal recessive" "" "see paper; ..., visual impairment, childhood bilateral cataracts" "" "" "" "" "" "" "" "" "infantile cataract" "0000144056" "00296" "00183319" "00006" "Familial, autosomal recessive" "" "see paper; ..., infantile or early-childhood cataracts and visual impairment" "" "" "" "" "" "" "" "" "infantile cataract" "0000144057" "00296" "00183320" "00006" "Familial, autosomal recessive" "" "see paper; ...\r\n34m bilateral cataracts" "" "" "" "" "" "" "" "" "infantile cataract" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000184279" "00183318" "1" "00006" "00006" "2018-10-22 18:41:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000184280" "00183319" "1" "00006" "00006" "2018-10-22 18:46:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000184281" "00183320" "1" "00006" "00006" "2018-10-22 18:50:24" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000184279" "DNMBP" "0000184280" "DNMBP" "0000184281" "DNMBP" ## 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 = 25 "{{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}}" "0000408295" "3" "90" "10" "101656128" "101656129" "del" "0" "00006" "DNMBP_000001" "g.101656128_101656129del" "" "{PMID:Ansar 2018:30290152}" "" "" "" "Germline" "yes" "" "0" "" "" "g.99896371_99896372del" "" "pathogenic (recessive)" "" "0000408296" "3" "90" "10" "101716420" "101716420" "subst" "0" "00006" "DNMBP_000002" "g.101716420G>A" "" "{PMID:Ansar 2018:30290152}" "" "" "" "Germline" "yes" "" "0" "" "" "g.99956663G>A" "" "pathogenic (recessive)" "" "0000408297" "3" "90" "10" "101657910" "101657913" "del" "0" "00006" "DNMBP_000003" "g.101657910_101657913del" "" "{PMID:Ansar 2018:30290152}" "" "2852_2855delCCAA" "" "Germline" "yes" "" "0" "" "" "g.99898153_99898156del" "" "pathogenic (recessive)" "" "0000622304" "0" "50" "10" "101639731" "101639731" "subst" "0.00120603" "01943" "DNMBP_000004" "g.101639731G>A" "" "" "" "DNMBP(NM_015221.4):c.4385C>T (p.T1462M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99879974G>A" "" "VUS" "" "0000622305" "0" "50" "10" "101643851" "101643851" "subst" "0" "01943" "DNMBP_000005" "g.101643851G>A" "" "" "" "DNMBP(NM_015221.4):c.3914C>T (p.S1305L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99884094G>A" "" "VUS" "" "0000622306" "0" "30" "10" "101667744" "101667744" "subst" "0.000810657" "01943" "DNMBP_000006" "g.101667744G>A" "" "" "" "DNMBP(NM_015221.4):c.2554+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99907987G>A" "" "likely benign" "" "0000622307" "0" "30" "10" "101689561" "101689561" "subst" "9.25655E-5" "01943" "DNMBP_000007" "g.101689561C>A" "" "" "" "DNMBP(NM_001318326.1):c.960G>T (p.Q320H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99929804C>A" "" "likely benign" "" "0000622308" "0" "30" "10" "101715963" "101715963" "subst" "6.49725E-5" "01943" "DNMBP_000008" "g.101715963T>C" "" "" "" "DNMBP(NM_015221.4):c.1268A>G (p.N423S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99956206T>C" "" "likely benign" "" "0000678747" "0" "30" "10" "101648658" "101648658" "subst" "0.000767475" "01943" "DNMBP_000009" "g.101648658A>G" "" "" "" "DNMBP(NM_015221.4):c.3209T>C (p.M1070T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678748" "0" "30" "10" "101689996" "101689996" "subst" "0.000293454" "01943" "DNMBP_000010" "g.101689996C>T" "" "" "" "DNMBP(NM_001318326.1):c.525G>A (p.Q175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678749" "0" "50" "10" "101715453" "101715453" "subst" "0.000703001" "01943" "DNMBP_000011" "g.101715453G>A" "" "" "" "DNMBP(NM_015221.4):c.1778C>T (p.S593L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690625" "0" "50" "10" "101715124" "101715124" "subst" "0.000296478" "01943" "DNMBP_000012" "g.101715124G>A" "" "" "" "DNMBP(NM_015221.4):c.2107C>T (p.R703W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690626" "0" "30" "10" "101715473" "101715473" "subst" "0.000475498" "01943" "DNMBP_000013" "g.101715473C>T" "" "" "" "DNMBP(NM_015221.4):c.1758G>A (p.K586=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722630" "0" "30" "10" "101657895" "101657895" "subst" "4.8727E-5" "01943" "DNMBP_000014" "g.101657895C>T" "" "" "" "DNMBP(NM_015221.4):c.2868G>A (p.A956=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722631" "0" "50" "10" "101690304" "101690304" "subst" "7.71688E-6" "01943" "DNMBP_000015" "g.101690304G>C" "" "" "" "DNMBP(NM_001318326.1):c.217C>G (p.Q73E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722632" "0" "30" "10" "101716409" "101716409" "subst" "0.000199027" "01943" "DNMBP_000016" "g.101716409C>T" "" "" "" "DNMBP(NM_015221.4):c.822G>A (p.A274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804253" "0" "50" "10" "101639977" "101639977" "subst" "0" "01943" "DNMBP_000017" "g.101639977C>T" "" "" "" "DNMBP(NM_015221.4):c.4139G>A (p.G1380D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804254" "0" "30" "10" "101640015" "101640015" "subst" "0.00108994" "01943" "DNMBP_000018" "g.101640015G>A" "" "" "" "DNMBP(NM_015221.4):c.4101C>T (p.H1367=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804255" "0" "50" "10" "101645517" "101645517" "subst" "8.57221E-6" "01943" "DNMBP_000019" "g.101645517A>C" "" "" "" "DNMBP(NM_015221.4):c.3725T>G (p.L1242R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804256" "0" "50" "10" "101646265" "101646265" "subst" "0.000633472" "01943" "DNMBP_000020" "g.101646265C>T" "" "" "" "DNMBP(NM_015221.4):c.3410G>A (p.R1137Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804257" "0" "50" "10" "101689736" "101689736" "subst" "0.00105065" "01943" "DNMBP_000021" "g.101689736T>A" "" "" "" "DNMBP(NM_001318326.1):c.785A>T (p.D262V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804258" "0" "30" "10" "101716076" "101716076" "subst" "0.00066696" "01943" "DNMBP_000022" "g.101716076C>T" "" "" "" "DNMBP(NM_015221.4):c.1155G>A (p.P385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861784" "0" "30" "10" "101639762" "101639762" "subst" "1.21819E-5" "01943" "DNMBP_000023" "g.101639762C>G" "" "" "" "DNMBP(NM_015221.4):c.4354G>C (p.V1452L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861785" "0" "50" "10" "101689712" "101689712" "subst" "0" "01943" "DNMBP_000024" "g.101689712G>A" "" "" "" "DNMBP(NM_001318326.1):c.809C>T (p.A270V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861786" "0" "50" "10" "101715508" "101715508" "subst" "1.62547E-5" "01943" "DNMBP_000025" "g.101715508G>A" "" "" "" "DNMBP(NM_015221.4):c.1723C>T (p.R575C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 DNMBP ## Count = 25 "{{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}}" "0000408295" "00006602" "90" "2947" "0" "2948" "0" "c.2947_2948del" "r.(?)" "p.(Asp983*)" "" "0000408296" "00006602" "90" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271*)" "" "0000408297" "00006602" "90" "2852" "0" "2855" "0" "c.2852_2855del" "r.(?)" "p.(Thr951Metfs*41)" "" "0000622304" "00006602" "50" "4385" "0" "4385" "0" "c.4385C>T" "r.(?)" "p.(Thr1462Met)" "" "0000622305" "00006602" "50" "3914" "0" "3914" "0" "c.3914C>T" "r.(?)" "p.(Ser1305Leu)" "" "0000622306" "00006602" "30" "2554" "8" "2554" "8" "c.2554+8C>T" "r.(=)" "p.(=)" "" "0000622307" "00006602" "30" "2261" "-20658" "2261" "-20658" "c.2261-20658G>T" "r.(=)" "p.(=)" "" "0000622308" "00006602" "30" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(Asn423Ser)" "" "0000678747" "00006602" "30" "3209" "0" "3209" "0" "c.3209T>C" "r.(?)" "p.(Met1070Thr)" "" "0000678748" "00006602" "30" "2261" "-21093" "2261" "-21093" "c.2261-21093G>A" "r.(=)" "p.(=)" "" "0000678749" "00006602" "50" "1778" "0" "1778" "0" "c.1778C>T" "r.(?)" "p.(Ser593Leu)" "" "0000690625" "00006602" "50" "2107" "0" "2107" "0" "c.2107C>T" "r.(?)" "p.(Arg703Trp)" "" "0000690626" "00006602" "30" "1758" "0" "1758" "0" "c.1758G>A" "r.(?)" "p.(Lys586=)" "" "0000722630" "00006602" "30" "2868" "0" "2868" "0" "c.2868G>A" "r.(?)" "p.(Ala956=)" "" "0000722631" "00006602" "50" "2261" "-21401" "2261" "-21401" "c.2261-21401C>G" "r.(=)" "p.(=)" "" "0000722632" "00006602" "30" "822" "0" "822" "0" "c.822G>A" "r.(?)" "p.(Ala274=)" "" "0000804253" "00006602" "50" "4139" "0" "4139" "0" "c.4139G>A" "r.(?)" "p.(Gly1380Asp)" "" "0000804254" "00006602" "30" "4101" "0" "4101" "0" "c.4101C>T" "r.(?)" "p.(His1367=)" "" "0000804255" "00006602" "50" "3725" "0" "3725" "0" "c.3725T>G" "r.(?)" "p.(Leu1242Arg)" "" "0000804256" "00006602" "50" "3410" "0" "3410" "0" "c.3410G>A" "r.(?)" "p.(Arg1137Gln)" "" "0000804257" "00006602" "50" "2261" "-20833" "2261" "-20833" "c.2261-20833A>T" "r.(=)" "p.(=)" "" "0000804258" "00006602" "30" "1155" "0" "1155" "0" "c.1155G>A" "r.(?)" "p.(Pro385=)" "" "0000861784" "00006602" "30" "4354" "0" "4354" "0" "c.4354G>C" "r.(?)" "p.(Val1452Leu)" "" "0000861785" "00006602" "50" "2261" "-20809" "2261" "-20809" "c.2261-20809C>T" "r.(=)" "p.(=)" "" "0000861786" "00006602" "50" "1723" "0" "1723" "0" "c.1723C>T" "r.(?)" "p.(Arg575Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000184279" "0000408295" "0000184280" "0000408296" "0000184281" "0000408297"