### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MAP1B) # 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}}" "MAP1B" "microtubule-associated protein 1B" "5" "q13" "unknown" "NC_000005.9" "UD_132464954009" "" "https://www.LOVD.nl/MAP1B" "" "1" "6836" "4131" "157129" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-04-19 19:03:04" "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}}" "00011733" "MAP1B" "microtubule-associated protein 1B" "001" "NM_005909.3" "" "NP_005900.2" "" "" "" "-241" "11738" "7407" "71403118" "71505397" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05470" "PVNH" "periventricular nodular heterotopia" "AR" "" "" "" "" "00006" "2018-08-24 17:01:59" "00006" "2023-11-05 11:30:38" "07075" "PVNH9" "heterotopia, nodular, periventricular, type 9" "AD" "618918" "" "" "" "00006" "2024-04-19 18:59:33" "" "" "07076" "DFNA83" "deafness, autosomal dominant, type 83" "AD" "619808" "" "" "" "00006" "2024-04-19 19:03:58" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "MAP1B" "05470" "MAP1B" "07075" "MAP1B" "07076" ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00455386" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00455386" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05470, 07075, 07076 ## Count = 1 "{{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}}" "0000343960" "00198" "00455386" "03544" "Isolated (sporadic)" "" "HP:0000252, HP:0001508, HP:0004322, HP:0011342" "" "" "" "" "" "" "" "" "PVNH9" "developmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000457000" "00455386" "1" "03544" "03544" "2024-10-08 14:48:46" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 49 "{{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}}" "0000291437" "0" "30" "5" "71491572" "71491572" "subst" "1.63369E-5" "01943" "MAP1B_000001" "g.71491572C>T" "" "" "" "MAP1B(NM_005909.5):c.2390C>T (p.A797V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72195745C>T" "" "likely benign" "" "0000291438" "0" "30" "5" "71496185" "71496185" "subst" "6.5668E-5" "01943" "MAP1B_000004" "g.71496185G>A" "" "" "" "MAP1B(NM_005909.5):c.7003G>A (p.A2335T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72200358G>A" "" "likely benign" "" "0000330419" "0" "50" "5" "71495351" "71495351" "subst" "2.03089E-5" "01804" "MAP1B_000002" "g.71495351T>A" "" "" "" "MAP1B(NM_005909.3):c.6169T>A (p.(Tyr2057Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72199524T>A" "" "VUS" "" "0000330420" "0" "50" "5" "71495353" "71495353" "subst" "2.0312E-5" "01804" "MAP1B_000003" "g.71495353T>G" "" "" "" "MAP1B(NM_005909.3):c.6171T>G (p.(Tyr2057Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72199526T>G" "" "VUS" "" "0000609782" "0" "50" "5" "71491766" "71491766" "subst" "2.84393E-5" "02325" "MAP1B_000006" "g.71491766G>A" "" "" "" "MAP1B(NM_005909.5):c.2584G>A (p.E862K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72195939G>A" "" "VUS" "" "0000609783" "0" "50" "5" "71493027" "71493027" "subst" "0.00023965" "02325" "MAP1B_000007" "g.71493027C>T" "" "" "" "MAP1B(NM_005909.5):c.3845C>T (p.T1282M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72197200C>T" "" "VUS" "" "0000677540" "0" "50" "5" "71494584" "71494584" "subst" "5.28455E-5" "02325" "MAP1B_000008" "g.71494584C>T" "" "" "" "MAP1B(NM_005909.5):c.5402C>T (p.S1801L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689543" "0" "50" "5" "71492952" "71492952" "subst" "5.27987E-5" "02325" "MAP1B_000009" "g.71492952C>T" "" "" "" "MAP1B(NM_005909.5):c.3770C>T (p.P1257L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802170" "0" "30" "5" "71494474" "71494474" "subst" "5.28159E-5" "01943" "MAP1B_000010" "g.71494474A>T" "" "" "" "MAP1B(NM_005909.5):c.5292A>T (p.S1764=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850953" "0" "90" "5" "71492498" "71492498" "subst" "0" "02327" "MAP1B_000012" "g.71492498C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000886902" "0" "50" "5" "71491976" "71491976" "subst" "8.13915E-6" "02325" "MAP1B_000013" "g.71491976G>A" "" "" "" "MAP1B(NM_005909.5):c.2794G>A (p.G932S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912357" "0" "50" "5" "71495201" "71495201" "subst" "0" "02327" "MAP1B_000014" "g.71495201T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912358" "0" "50" "5" "71499390" "71499390" "subst" "0" "02327" "MAP1B_000015" "g.71499390G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924373" "0" "50" "5" "71490506" "71490506" "subst" "0" "02325" "MAP1B_000016" "g.71490506A>C" "" "" "" "MAP1B(NM_005909.5):c.1324A>C (p.T442P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924374" "0" "50" "5" "71492978" "71492978" "subst" "4.06207E-6" "02325" "MAP1B_000017" "g.71492978C>T" "" "" "" "MAP1B(NM_005909.5):c.3796C>T (p.P1266S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924375" "0" "50" "5" "71495621" "71495621" "subst" "0" "02325" "MAP1B_000018" "g.71495621C>T" "" "" "" "MAP1B(NM_005909.5):c.6439C>T (p.P2147S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929097" "0" "50" "5" "71495048" "71495048" "subst" "0" "02325" "MAP1B_000019" "g.71495048T>C" "" "" "" "MAP1B(NM_005909.5):c.5866T>C (p.S1956P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948571" "0" "50" "5" "71494177" "71494177" "subst" "4.06296E-6" "02325" "MAP1B_000020" "g.71494177G>T" "" "" "" "MAP1B(NM_005909.5):c.4995G>T (p.Q1665H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963673" "0" "70" "5" "71490077" "71490077" "subst" "0" "02329" "MAP1B_000021" "g.71490077C>T" "" "" "" "MAP1B(NM_005909.5):c.895C>T (p.R299*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000963675" "0" "70" "5" "71495279" "71495279" "subst" "0" "02329" "MAP1B_000023" "g.71495279C>T" "" "" "" "MAP1B(NM_005909.5):c.6097C>T (p.R2033*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000963676" "0" "50" "5" "71500992" "71500992" "subst" "0" "02325" "MAP1B_000024" "g.71500992A>C" "" "" "" "MAP1B(NM_005909.5):c.7333A>C (p.I2445L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976845" "0" "30" "5" "71491556" "71491556" "subst" "1.22196E-5" "01804" "MAP1B_000025" "g.71491556G>A" "" "" "" "MAP1B(NM_005909.5):c.2374G>A (p.(Ala792Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976846" "0" "50" "5" "71491892" "71491892" "subst" "1.62752E-5" "02325" "MAP1B_000026" "g.71491892G>A" "" "" "" "MAP1B(NM_005909.3):c.2710G>A (p.(Glu904Lys)), MAP1B(NM_005909.5):c.2710G>A (p.E904K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995146" "0" "30" "5" "71403485" "71403485" "subst" "2.55463E-5" "01804" "MAP1B_000027" "g.71403485G>A" "" "" "" "MAP1B(NM_005909.3):c.127G>A (p.(Val43Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995147" "0" "50" "5" "71482528" "71482528" "subst" "0" "01804" "MAP1B_000028" "g.71482528C>T" "" "" "" "MAP1B(NM_005909.3):c.457C>T (p.(Gln153*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995148" "0" "50" "5" "71490523" "71490523" "subst" "4.06171E-6" "01804" "MAP1B_000029" "g.71490523C>G" "" "" "" "MAP1B(NM_005909.3):c.1341C>G (p.(Asp447Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995149" "0" "30" "5" "71490700" "71490700" "subst" "0" "01804" "MAP1B_000030" "g.71490700A>T" "" "" "" "MAP1B(NM_005909.3):c.1518A>T (p.(Lys506Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995150" "0" "30" "5" "71490893" "71490893" "subst" "1.62612E-5" "01804" "MAP1B_000031" "g.71490893G>A" "" "" "" "MAP1B(NM_005909.3):c.1711G>A (p.(Val571Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995151" "0" "30" "5" "71491641" "71491641" "subst" "4.06947E-6" "01804" "MAP1B_000032" "g.71491641C>T" "" "" "" "MAP1B(NM_005909.3):c.2459C>T (p.(Ala820Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995152" "0" "30" "5" "71491892" "71491892" "subst" "1.62752E-5" "01804" "MAP1B_000026" "g.71491892G>A" "" "" "" "MAP1B(NM_005909.3):c.2710G>A (p.(Glu904Lys)), MAP1B(NM_005909.5):c.2710G>A (p.E904K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995153" "0" "30" "5" "71491950" "71491950" "subst" "0.0013482" "01804" "MAP1B_000033" "g.71491950T>C" "" "" "" "MAP1B(NM_005909.3):c.2768T>C (p.(Ile923Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995154" "0" "30" "5" "71492247" "71492247" "subst" "1.62686E-5" "01804" "MAP1B_000034" "g.71492247A>C" "" "" "" "MAP1B(NM_005909.3):c.3065A>C (p.(Glu1022Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995155" "0" "30" "5" "71493495" "71493495" "subst" "4.06412E-6" "01804" "MAP1B_000035" "g.71493495C>T" "" "" "" "MAP1B(NM_005909.3):c.4313C>T (p.(Ser1438Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995156" "0" "50" "5" "71494161" "71494161" "subst" "8.12559E-6" "01804" "MAP1B_000036" "g.71494161T>C" "" "" "" "MAP1B(NM_005909.3):c.4979T>C (p.(Met1660Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995157" "0" "50" "5" "71494311" "71494311" "subst" "0" "01804" "MAP1B_000037" "g.71494311C>T" "" "" "" "MAP1B(NM_005909.3):c.5129C>T (p.(Ser1710Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995158" "0" "50" "5" "71494392" "71494392" "subst" "0" "01804" "MAP1B_000038" "g.71494392C>T" "" "" "" "MAP1B(NM_005909.3):c.5210C>T (p.(Thr1737Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995159" "0" "50" "5" "71494431" "71494431" "subst" "8.1283E-6" "01804" "MAP1B_000039" "g.71494431T>C" "" "" "" "MAP1B(NM_005909.3):c.5249T>C (p.(Leu1750Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995160" "0" "30" "5" "71495882" "71495882" "subst" "2.43978E-5" "01804" "MAP1B_000040" "g.71495882G>T" "" "" "" "MAP1B(NM_005909.3):c.6700G>T (p.(Ala2234Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001011437" "0" "70" "5" "71491435" "71491435" "dup" "0" "03544" "MAP1B_000041" "g.71491435dup" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.72195608dup" "{CV:3544372}" "likely pathogenic" "ACMG" "0001014143" "0" "70" "5" "71492297" "71492297" "dup" "0" "02329" "MAP1B_000042" "g.71492297dup" "" "" "" "MAP1B(NM_005909.5):c.3115dupA (p.M1039Nfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001025125" "0" "30" "5" "71403533" "71403533" "subst" "0.000231364" "02325" "MAP1B_000043" "g.71403533A>G" "" "" "" "MAP1B(NM_005909.5):c.175A>G (p.I59V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035301" "0" "50" "5" "71491435" "71491435" "subst" "0" "01804" "MAP1B_000044" "g.71491435A>C" "" "" "" "MAP1B(NM_005909.5):c.2253A>C (p.(Lys751Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035302" "0" "50" "5" "71492775" "71492775" "subst" "4.06204E-6" "01804" "MAP1B_000045" "g.71492775A>G" "" "" "" "MAP1B(NM_005909.5):c.3593A>G (p.(Lys1198Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035303" "0" "30" "5" "71493161" "71493161" "subst" "1.21897E-5" "01804" "MAP1B_000046" "g.71493161G>A" "" "" "" "MAP1B(NM_005909.5):c.3979G>A (p.(Val1327Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035304" "0" "30" "5" "71496114" "71496114" "subst" "0" "01804" "MAP1B_000047" "g.71496114C>T" "" "" "" "MAP1B(NM_005909.5):c.6932C>T (p.(Ala2311Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045535" "0" "70" "5" "71499514" "71499515" "del" "0" "03779" "MAP1B_000048" "g.71499514_71499515del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001046034" "0" "30" "5" "71495412" "71495412" "subst" "9.34109E-5" "02325" "MAP1B_000049" "g.71495412G>A" "" "" "" "MAP1B(NM_005909.5):c.6230G>A (p.R2077H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051991" "0" "30" "5" "71493209" "71493209" "subst" "0.000280255" "01804" "MAP1B_000050" "g.71493209G>A" "" "" "" "MAP1B(NM_005909.5):c.4027G>A (p.(Glu1343Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001064345" "0" "30" "5" "71491536" "71491538" "del" "0" "01804" "MAP1B_000051" "g.71491536_71491538del" "" "" "" "MAP1B(NM_005909.5):c.2354_2356del (p.(Ile785del))" "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 MAP1B ## Count = 49 "{{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}}" "0000291437" "00011733" "30" "2390" "0" "2390" "0" "c.2390C>T" "r.(?)" "p.(Ala797Val)" "" "0000291438" "00011733" "30" "7003" "0" "7003" "0" "c.7003G>A" "r.(?)" "p.(Ala2335Thr)" "" "0000330419" "00011733" "50" "6169" "0" "6169" "0" "c.6169T>A" "r.(?)" "p.(Tyr2057Asn)" "" "0000330420" "00011733" "50" "6171" "0" "6171" "0" "c.6171T>G" "r.(?)" "p.(Tyr2057Ter)" "" "0000609782" "00011733" "50" "2584" "0" "2584" "0" "c.2584G>A" "r.(?)" "p.(Glu862Lys)" "" "0000609783" "00011733" "50" "3845" "0" "3845" "0" "c.3845C>T" "r.(?)" "p.(Thr1282Met)" "" "0000677540" "00011733" "50" "5402" "0" "5402" "0" "c.5402C>T" "r.(?)" "p.(Ser1801Leu)" "" "0000689543" "00011733" "50" "3770" "0" "3770" "0" "c.3770C>T" "r.(?)" "p.(Pro1257Leu)" "" "0000802170" "00011733" "30" "5292" "0" "5292" "0" "c.5292A>T" "r.(?)" "p.(Ser1764=)" "" "0000850953" "00011733" "90" "3316" "0" "3316" "0" "c.3316C>T" "r.(?)" "p.(Arg1106*)" "" "0000886902" "00011733" "50" "2794" "0" "2794" "0" "c.2794G>A" "r.(?)" "p.(Gly932Ser)" "" "0000912357" "00011733" "50" "6019" "0" "6019" "0" "c.6019T>C" "r.(?)" "p.(Ser2007Pro)" "" "0000912358" "00011733" "50" "7013" "0" "7013" "0" "c.7013G>A" "r.(?)" "p.(Gly2338Glu)" "" "0000924373" "00011733" "50" "1324" "0" "1324" "0" "c.1324A>C" "r.(?)" "p.(Thr442Pro)" "" "0000924374" "00011733" "50" "3796" "0" "3796" "0" "c.3796C>T" "r.(?)" "p.(Pro1266Ser)" "" "0000924375" "00011733" "50" "6439" "0" "6439" "0" "c.6439C>T" "r.(?)" "p.(Pro2147Ser)" "" "0000929097" "00011733" "50" "5866" "0" "5866" "0" "c.5866T>C" "r.(?)" "p.(Ser1956Pro)" "" "0000948571" "00011733" "50" "4995" "0" "4995" "0" "c.4995G>T" "r.(?)" "p.(Gln1665His)" "" "0000963673" "00011733" "70" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(Arg299*)" "" "0000963675" "00011733" "70" "6097" "0" "6097" "0" "c.6097C>T" "r.(?)" "p.(Arg2033*)" "" "0000963676" "00011733" "50" "7333" "0" "7333" "0" "c.7333A>C" "r.(?)" "p.(Ile2445Leu)" "" "0000976845" "00011733" "30" "2374" "0" "2374" "0" "c.2374G>A" "r.(?)" "p.(Ala792Thr)" "" "0000976846" "00011733" "50" "2710" "0" "2710" "0" "c.2710G>A" "r.(?)" "p.(Glu904Lys)" "" "0000995146" "00011733" "30" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Val43Ile)" "" "0000995147" "00011733" "50" "457" "0" "457" "0" "c.457C>T" "r.(?)" "p.(Gln153*)" "" "0000995148" "00011733" "50" "1341" "0" "1341" "0" "c.1341C>G" "r.(?)" "p.(Asp447Glu)" "" "0000995149" "00011733" "30" "1518" "0" "1518" "0" "c.1518A>T" "r.(?)" "p.(Lys506Asn)" "" "0000995150" "00011733" "30" "1711" "0" "1711" "0" "c.1711G>A" "r.(?)" "p.(Val571Met)" "" "0000995151" "00011733" "30" "2459" "0" "2459" "0" "c.2459C>T" "r.(?)" "p.(Ala820Val)" "" "0000995152" "00011733" "30" "2710" "0" "2710" "0" "c.2710G>A" "r.(?)" "p.(Glu904Lys)" "" "0000995153" "00011733" "30" "2768" "0" "2768" "0" "c.2768T>C" "r.(?)" "p.(Ile923Thr)" "" "0000995154" "00011733" "30" "3065" "0" "3065" "0" "c.3065A>C" "r.(?)" "p.(Glu1022Ala)" "" "0000995155" "00011733" "30" "4313" "0" "4313" "0" "c.4313C>T" "r.(?)" "p.(Ser1438Phe)" "" "0000995156" "00011733" "50" "4979" "0" "4979" "0" "c.4979T>C" "r.(?)" "p.(Met1660Thr)" "" "0000995157" "00011733" "50" "5129" "0" "5129" "0" "c.5129C>T" "r.(?)" "p.(Ser1710Phe)" "" "0000995158" "00011733" "50" "5210" "0" "5210" "0" "c.5210C>T" "r.(?)" "p.(Thr1737Ile)" "" "0000995159" "00011733" "50" "5249" "0" "5249" "0" "c.5249T>C" "r.(?)" "p.(Leu1750Pro)" "" "0000995160" "00011733" "30" "6700" "0" "6700" "0" "c.6700G>T" "r.(?)" "p.(Ala2234Ser)" "" "0001011437" "00011733" "70" "2253" "0" "2253" "0" "c.2253dup" "r.(?)" "p.(Pro752Thrfs*35)" "5" "0001014143" "00011733" "70" "3115" "0" "3115" "0" "c.3115dup" "r.(?)" "p.(Met1039Asnfs*4)" "" "0001025125" "00011733" "30" "175" "0" "175" "0" "c.175A>G" "r.(?)" "p.(Ile59Val)" "" "0001035301" "00011733" "50" "2253" "0" "2253" "0" "c.2253A>C" "r.(?)" "p.(Lys751Asn)" "" "0001035302" "00011733" "50" "3593" "0" "3593" "0" "c.3593A>G" "r.(?)" "p.(Lys1198Arg)" "" "0001035303" "00011733" "30" "3979" "0" "3979" "0" "c.3979G>A" "r.(?)" "p.(Val1327Met)" "" "0001035304" "00011733" "30" "6932" "0" "6932" "0" "c.6932C>T" "r.(?)" "p.(Ala2311Val)" "" "0001045535" "00011733" "70" "7137" "0" "7138" "0" "c.7137_7138del" "r.(?)" "p.(Arg2379SerfsTer12)" "" "0001046034" "00011733" "30" "6230" "0" "6230" "0" "c.6230G>A" "r.(?)" "p.(Arg2077His)" "" "0001051991" "00011733" "30" "4027" "0" "4027" "0" "c.4027G>A" "r.(?)" "p.(Glu1343Lys)" "" "0001064345" "00011733" "30" "2354" "0" "2356" "0" "c.2354_2356del" "r.(?)" "p.(Ile785del)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000457000" "0001011437"