### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EXOC6B) # 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}}" "EXOC6B" "exocyst complex component 6B" "2" "p13.2" "unknown" "NC_000002.11" "UD_136023302742" "" "http://www.LOVD.nl/EXOC6B" "" "1" "17085" "23233" "607880" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/EXOC6B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-10-30 17:26:23" "00006" "2025-11-20 15:11:11" ## 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}}" "00007305" "EXOC6B" "exocyst complex component 6B" "001" "NM_015189.1" "" "NP_056004.1" "" "" "" "-138" "2456" "2436" "73053177" "72406444" "" "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" "05095" "SEMDJL" "dysplasia, spondyloepimetaphyseal, with joint laxity (SEMDJL)" "" "" "" "" "" "00006" "2015-10-30 17:31:19" "00006" "2015-10-30 17:31:43" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "06482" "SEMDJL3" "Spondyloepimetaphyseal dysplasia with joint laxity, type 3" "AR" "618395" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "EXOC6B" "06482" ## 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}}" "00053042" "" "" "" "2" "" "01428" "{PMID:Girisha 2016:26669664}, {DOI:Girisha 2016:10.1038/ejhg.2015.261}" "4-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "India" "" "0" "" "" "" "26669664-Fam" "00403826" "" "" "" "2" "" "00006" "{PMID:Campos-Xavier 2018:30284759}" "2-generation family, 2 affected sisters" "F" "" "Switzerland" "" "0" "" "" "" "family" "00469780" "" "" "" "1" "" "00006" "{PMID:Simsek-Kiper 2022:36150098}, {PMID:Jacob 2025:39706863}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "India" "" "0" "" "" "" "FamPat1;?" "00469895" "" "" "" "1" "" "00006" "{PMID:Simsek-Kiper 2022:36150098}" "3-generation family, 2 affected (2F)" "F" "yes" "Turkey" "" "0" "" "" "" "FamPat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00053042" "00198" "00403826" "05095" "00469780" "05517" "00469895" "05517" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05095, 05517, 06482 ## Count = 4 "{{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}}" "0000041564" "00198" "00053042" "01428" "Familial, autosomal recessive" "" "see paper; ..., spondyloepimetaphyseal dysplasia (SEMD), multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age and poorly ossified carpal/tarsal bones" "" "" "" "" "" "" "" "" "" "" "" "0000296507" "05095" "00403826" "00006" "Familial, autosomal recessive" "" "born with dislocations hips and knees; long, slender fingers with distal tapering; adolescents obese, significant motor disability, normal (older sister) or low-normal intelligence (younger sister)" "" "" "" "" "" "" "" "" "SEMDJL3" "spondyloepimetaphyseal dysplasia with joint laxity" "" "0000354925" "05517" "00469780" "00006" "Familial, autosomal recessive" "" "see paper; ..., jaundice; difficulty walking, inability to squat; delay gross motor skills" "" "" "" "" "" "" "" "" "SEMDJL3" "skeletal dysplasia" "" "0000355040" "05517" "00469895" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., jaundice, difficulty walking, wheelchair. bound, scoliosis; delayed motor development, delayed mental development" "" "" "" "" "" "" "" "" "SEMDJL3" "skeletal dysplasia" "" ## 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}}" "0000052990" "00053042" "1" "01428" "01428" "2015-10-30 11:03:22" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000405064" "00403826" "1" "00006" "00006" "2022-02-24 12:09:05" "" "" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "WES" "0000471448" "00469780" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471563" "00469895" "1" "00006" "00006" "2025-11-20 15:00:12" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000052990" "EXOC6B" ## 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 = 8 "{{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}}" "0000082923" "3" "90" "2" "72786591" "72786591" "subst" "0" "01428" "EXOC6B_000001" "g.72786591A>T" "" "{PMID:Girisha 2016:26669664}, {DOI:Girisha 2016:10.1038/ejhg.2015.261}" "" "" "" "Germline" "yes" "" "0" "" "" "g.72559462A>T" "" "pathogenic" "" "0000841115" "3" "90" "2" "72547263" "72766512" "del" "0" "00006" "EXOC6B_000004" "g.72547263_72766512del" "" "{PMID:Campos-Xavier 2018:30284759}" "" "del ex9-20, 915+20070_2197-135947del" "219,248 nucleotide deletion" "Germline" "yes" "" "0" "" "" "g.72320134_72539383del" "" "pathogenic (recessive)" "" "0001033455" "0" "50" "2" "72719502" "72719502" "subst" "8.13259E-6" "01804" "EXOC6B_000005" "g.72719502G>A" "" "" "" "EXOC6B(NM_015189.3):c.1610C>T (p.(Thr537Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033456" "0" "50" "2" "72722641" "72722641" "subst" "0" "01804" "EXOC6B_000006" "g.72722641A>G" "" "" "" "EXOC6B(NM_015189.3):c.1471T>C (p.(Ser491Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033457" "0" "50" "2" "72725667" "72725667" "subst" "7.03473E-5" "01804" "EXOC6B_000007" "g.72725667G>A" "" "" "" "EXOC6B(NM_015189.3):c.1253C>T (p.(Pro418Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033458" "0" "50" "2" "72945368" "72945368" "subst" "0.000646778" "01804" "EXOC6B_000008" "g.72945368C>T" "" "" "" "EXOC6B(NM_015189.3):c.533G>A (p.(Arg178Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059596" "3" "70" "2" "72470904" "72591411" "del" "0" "00006" "EXOC6B_000009" "g.72470904_72591411del" "" "{PMID:Simsek-Kiper 2022:36150098}, {PMID:Jacob 2025:39706863}" "" "" "" "Germline" "yes" "" "0" "" "" "g.72243775_72364282del" "SCV001984873.1" "likely pathogenic (recessive)" "" "0001059740" "3" "90" "2" "72958301" "72958301" "subst" "0" "00006" "EXOC6B_000010" "g.72958301A>C" "" "{PMID:Simsek-Kiper 2022:36150098}" "" "" "" "Germline" "" "" "0" "" "" "g.72731172A>C" "SCV002062066" "pathogenic (recessive)" "" ## 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 EXOC6B ## 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}}" "0000082923" "00007305" "90" "906" "0" "906" "0" "c.906T>A" "r.(?)" "p.(Tyr302*)" "8" "0000841115" "00007305" "90" "915" "20070" "2196" "14813" "c.915+20070_2196+14813del" "r.(?)" "p.(Gly306_Gln732del)" "8i_20i" "0001033455" "00007305" "50" "1610" "0" "1610" "0" "c.1610C>T" "r.(?)" "p.(Thr537Ile)" "" "0001033456" "00007305" "50" "1471" "0" "1471" "0" "c.1471T>C" "r.(?)" "p.(Ser491Pro)" "" "0001033457" "00007305" "50" "1253" "0" "1253" "0" "c.1253C>T" "r.(?)" "p.(Pro418Leu)" "" "0001033458" "00007305" "50" "533" "0" "533" "0" "c.533G>A" "r.(?)" "p.(Arg178Gln)" "" "0001059596" "00007305" "70" "2122" "15447" "2197" "-59588" "c.2122+15447_2197-59588del" "r.2123_2196del" "p.Gln708ProfsTer16" "19i_20i" "0001059740" "00007305" "90" "401" "0" "401" "0" "c.401T>G" "r.(?)" "p.(Leu134*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000052990" "0000082923" "0000405064" "0000841115" "0000471448" "0001059596" "0000471563" "0001059740"