### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GBF1) # 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}}" "GBF1" "golgi brefeldin A resistant guanine nucleotide exchange factor 1" "10" "q24" "unknown" "NC_000010.10" "UD_132319371739" "" "https://www.LOVD.nl/GBF1" "" "1" "4181" "8729" "603698" "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/GBF1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-06-12 15:34:17" "00000" "2024-08-28 13:16:32" ## 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}}" "00025498" "GBF1" "transcript variant 1" "003" "NM_004193.2" "" "NP_004184.1" "" "" "" "-294" "6143" "5580" "104005255" "104142656" "00006" "2020-03-03 19:37:44" "" "" ## 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}}" "05111" "HMN" "neuropathy, motor, distal, hereditary (HMN)" "" "" "" "" "" "00006" "2016-01-11 01:33:03" "00006" "2016-03-20 12:15:43" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GBF1" "05111" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00303444" "" "" "" "1" "" "00006" "Mendoza Ferreira ESHG2020 C20.2, {PMID:Mendoza-Ferreira 2020:32937143}" "3-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Germany" "" "0" "" "" "" "Fam1" "00303445" "" "" "" "5" "" "00006" "Mendoza Ferreira ESHG2020 C20.2, {PMID:Mendoza-Ferreira 2020:32937143}" "5-generation family, 6 affected (3F, 3M)" "F;M" "" "Belgium" "" "0" "" "" "" "Fam2" "00303446" "" "" "" "1" "" "00006" "Mendoza Ferreira ESHG2020 C20.2, {PMID:Mendoza-Ferreira 2020:32937143}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "Old Order Amish" "Fam3" "00303447" "" "" "" "1" "" "00006" "Mendoza Ferreira ESHG2020 C20.2, {PMID:Mendoza-Ferreira 2020:32937143}" "4-generation family, affected mother/son" "F;M" "" "Germany" "" "0" "" "" "" "Fam4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00303444" "05111" "00303445" "05111" "00303446" "05111" "00303447" "05111" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05111 ## Count = 4 "{{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}}" "0000230524" "05111" "00303444" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "0000230525" "05111" "00303445" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "0000230526" "05111" "00303446" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" "0000230527" "05111" "00303447" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "distal hereditary motor neuropathy" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000304573" "00303444" "1" "00006" "00006" "2020-06-12 15:34:06" "00006" "2020-09-19 16:12:46" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000304574" "00303445" "1" "00006" "00006" "2020-06-12 15:34:06" "00006" "2020-09-19 16:13:26" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000304575" "00303446" "1" "00006" "00006" "2020-06-12 15:34:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304576" "00303447" "1" "00006" "00006" "2020-06-12 15:34:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000304573" "GBF1" "0000304574" "GBF1" "0000304575" "GBF1" "0000304576" "GBF1" ## 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 = 12 "{{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}}" "0000538953" "0" "30" "10" "104001081" "104001084" "del" "0" "01804" "GBF1_000001" "g.104001081_104001084del" "" "" "" "PITX3(NM_005029.3):c.-13+8_-13+11del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102241324_102241327del" "" "likely benign" "" "0000668044" "0" "90" "10" "104130142" "104130142" "subst" "4.06101E-6" "00006" "GBF1_000002" "g.104130142C>T" "" "Mendoza Ferreira ESHG2020 C20.2, {PMID:Mendoza-Ferreira 2020:32937143}" "" "" "" "De novo" "" "" "0" "" "" "g.102370385C>T" "" "pathogenic (dominant)" "" "0000668045" "1" "90" "10" "104136788" "104136788" "subst" "0" "00006" "GBF1_000003" "g.104136788G>A" "" "Mendoza Ferreira ESHG2020 C20.2, {PMID:Mendoza-Ferreira 2020:32937143}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102377031G>A" "" "pathogenic (dominant)" "" "0000668046" "0" "90" "10" "104130484" "104130484" "subst" "0" "00006" "GBF1_000004" "g.104130484G>A" "" "Mendoza Ferreira ESHG2020 C20.2, {PMID:Mendoza-Ferreira 2020:32937143}" "" "" "" "De novo" "" "" "0" "" "" "g.102370727G>A" "" "pathogenic (dominant)" "" "0000668047" "21" "90" "10" "104128564" "104128564" "subst" "0" "00006" "GBF1_000005" "g.104128564G>A" "" "Mendoza Ferreira ESHG2020 C20.2, {PMID:Mendoza-Ferreira 2020:32937143}" "" "" "" "Germline" "" "" "0" "" "" "g.102368807G>A" "" "pathogenic (dominant)" "" "0000690636" "0" "50" "10" "104136725" "104136725" "subst" "0" "01943" "GBF1_000006" "g.104136725A>C" "" "" "" "GBF1(NM_004193.2):c.4319A>C (p.H1440P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861798" "0" "30" "10" "104121568" "104121568" "subst" "4.06345E-6" "02327" "GBF1_000007" "g.104121568C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000870928" "0" "70" "10" "104128551" "104128551" "subst" "0" "00534" "GBF1_000008" "g.104128551A>C" "" "" "" "" "De novo variant" "De novo" "yes" "" "0" "" "" "g.102368794A>C" "" "likely pathogenic" "ACMG" "0000925103" "0" "50" "10" "104120139" "104120139" "subst" "0.000186968" "02327" "GBF1_000009" "g.104120139G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978865" "0" "50" "10" "104142082" "104142082" "subst" "0" "01804" "GBF1_000010" "g.104142082G>A" "" "" "" "GBF1(NM_001377137.1):c.5572G>A (p.(Glu1858Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998066" "0" "30" "10" "104129113" "104129113" "subst" "7.72044E-5" "01804" "GBF1_000011" "g.104129113G>A" "" "" "" "GBF1(NM_004193.2):c.3116G>A (p.(Arg1039Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998067" "0" "50" "10" "104140347" "104140347" "subst" "4.06276E-6" "02327" "GBF1_000012" "g.104140347G>A" "" "" "" "" "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 GBF1 ## Count = 12 "{{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}}" "0000538953" "00025498" "30" "-4468" "0" "-4465" "0" "c.-4468_-4465del" "r.(?)" "p.(=)" "" "0000668044" "00025498" "90" "3410" "0" "3410" "0" "c.3410C>T" "r.3410c>u" "p.Ala1137Val" "" "0000668045" "00025498" "90" "4382" "0" "4382" "0" "c.4382G>A" "r.4382g>a" "p.Arg1461Gln" "" "0000668046" "00025498" "90" "3524" "0" "3524" "0" "c.3524G>A" "r.(?)" "p.(Trp1175*)" "" "0000668047" "00025498" "90" "2945" "0" "2945" "0" "c.2945G>A" "r.(?)" "p.(Cys982Tyr)" "" "0000690636" "00025498" "50" "4319" "0" "4319" "0" "c.4319A>C" "r.(?)" "p.(His1440Pro)" "" "0000861798" "00025498" "30" "1582" "0" "1582" "0" "c.1582C>G" "r.(?)" "p.(Leu528Val)" "" "0000870928" "00025498" "70" "2932" "0" "2932" "0" "c.2932A>C" "r.(?)" "p.(Ile978Leu)" "" "0000925103" "00025498" "50" "1376" "0" "1376" "0" "c.1376G>A" "r.(?)" "p.(Arg459His)" "" "0000978865" "00025498" "50" "5569" "0" "5569" "0" "c.5569G>A" "r.(?)" "p.(Glu1857Lys)" "" "0000998066" "00025498" "30" "3116" "0" "3116" "0" "c.3116G>A" "r.(?)" "p.(Arg1039Gln)" "" "0000998067" "00025498" "50" "5074" "0" "5074" "0" "c.5074G>A" "r.(?)" "p.(Gly1692Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000304573" "0000668044" "0000304574" "0000668045" "0000304575" "0000668046" "0000304576" "0000668047"