### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HOXD8) # 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}}" "HOXD8" "homeobox D8" "2" "q31.1" "unknown" "NC_000002.11" "UD_136087597617" "" "http://www.LOVD.nl/HOXD8" "" "1" "5139" "3234" "142985" "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/HOXD8_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-08-22 16:41:11" "00000" "2025-02-07 18:57:27" ## 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}}" "00009585" "HOXD8" "transcript variant 2" "003" "NM_001199746.1" "" "NP_001186675.1" "" "" "" "-627" "1953" "870" "176994468" "176997423" "" "0000-00-00 00:00:00" "" "" ## 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}}" "01768" "SHFM6" "split-hand/foot malformation, type 6 (SHFM-6)" "AR" "225300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "00079873" "" "" "" "15" "" "01240" "" "" "" "yes" "Pakistan" "" "1" "" "" "Pashtun" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00079873" "01768" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01768 ## Count = 1 "{{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}}" "0000059586" "01768" "00079873" "01240" "Familial, autosomal recessive" "" "Affected individuals in this large consanguineous family showed variable prototypes of split hand foot malformation" "" "" "" "" "" "" "" "" "" ## 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}}" "0000079949" "00079873" "1" "01240" "01240" "2016-08-21 09:02:06" "" "" "SEQ-NG" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000079949" "HOXD8" ## 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 = 16 "{{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}}" "0000128827" "3" "70" "2" "176995311" "176995316" "dup" "0" "01240" "HOXD8_000001" "g.176995311_176995316dup" "" "" "" "208_209insCGCACC" "please contact the submitter immediately when you find this variant; more observations are required to confirm whether this variant is/is not associated with the disease phenotype" "Germline" "yes" "" "1" "" "" "g.176130583_176130588dup" "" "likely pathogenic" "" "0000277710" "0" "10" "2" "176983923" "176983923" "subst" "0.0144445" "02330" "HOXD10_000001" "g.176983923G>C" "" "" "" "HOXD10(NM_002148.4):c.987G>C (p.R329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.176119195G>C" "" "benign" "" "0000510309" "0" "30" "2" "176981559" "176981559" "subst" "3.25058E-5" "02330" "HOXD8_000002" "g.176981559A>G" "" "" "" "HOXD10(NM_002148.4):c.-3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.176116831A>G" "" "likely benign" "" "0000510310" "0" "50" "2" "176981982" "176981982" "subst" "4.07721E-6" "02330" "HOXD8_000003" "g.176981982G>A" "" "" "" "HOXD10(NM_002148.4):c.421G>A (p.V141I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.176117254G>A" "" "VUS" "" "0000510311" "0" "10" "2" "176982325" "176982325" "subst" "0.0169054" "02330" "HOXD8_000004" "g.176982325G>A" "" "" "" "HOXD10(NM_002148.4):c.745+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.176117597G>A" "" "benign" "" "0000510312" "0" "10" "2" "176983961" "176983961" "subst" "0.00972045" "02330" "HOXD8_000005" "g.176983961T>C" "" "" "" "HOXD10(NM_002148.4):c.*2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.176119233T>C" "" "benign" "" "0000688408" "0" "50" "2" "176981762" "176981762" "subst" "2.84278E-5" "01943" "HOXD8_000006" "g.176981762G>A" "" "" "" "HOXD10(NM_002148.3):c.201G>A (p.M67I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718004" "0" "50" "2" "176981691" "176981691" "subst" "0.000288339" "02327" "HOXD8_000007" "g.176981691G>A" "" "" "" "HOXD10(NM_002148.4):c.130G>A (p.G44R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718005" "0" "30" "2" "176982222" "176982222" "subst" "8.68113E-5" "02326" "HOXD8_000008" "g.176982222G>T" "" "" "" "HOXD10(NM_002148.3):c.661G>T (p.A221S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849085" "0" "10" "2" "176983679" "176983679" "subst" "0.00160479" "02330" "HOXD8_000010" "g.176983679T>C" "" "" "" "HOXD10(NM_002148.4):c.746-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857875" "0" "30" "2" "176983671" "176983674" "del" "0" "02326" "HOXD8_000009" "g.176983671_176983674del" "" "" "" "HOXD10(NM_002148.3):c.746-11_746-8delAATT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928321" "0" "30" "2" "176981691" "176981691" "subst" "0.000288339" "02330" "HOXD8_000007" "g.176981691G>A" "" "" "" "HOXD10(NM_002148.4):c.130G>A (p.G44R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928322" "0" "30" "2" "176981933" "176981933" "subst" "0.000134132" "02330" "HOXD8_000011" "g.176981933T>G" "" "" "" "HOXD10(NM_002148.4):c.372T>G (p.I124M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991847" "0" "50" "2" "176983799" "176983799" "subst" "4.06141E-6" "01804" "HOXD8_000012" "g.176983799A>G" "" "" "" "HOXD10(NM_002148.3):c.863A>G (p.(Asn288Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013415" "0" "10" "2" "176982167" "176982167" "subst" "0.000346024" "02330" "HOXD8_000013" "g.176982167C>G" "" "" "" "HOXD10(NM_002148.4):c.606C>G (p.N202K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001024263" "0" "30" "2" "176981827" "176981827" "subst" "6.49715E-5" "02330" "HOXD8_000014" "g.176981827G>A" "" "" "" "HOXD10(NM_002148.4):c.266G>A (p.R89Q)" "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 HOXD8 ## Count = 16 "{{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}}" "0000128827" "00009585" "70" "217" "0" "222" "0" "c.217_222dup" "r.(?)" "p.(His73_Pro74dup)" "1" "0000277710" "00009585" "10" "-11172" "0" "-11172" "0" "c.-11172G>C" "r.(?)" "p.(=)" "" "0000510309" "00009585" "30" "-13536" "0" "-13536" "0" "c.-13536A>G" "r.(?)" "p.(=)" "" "0000510310" "00009585" "50" "-13113" "0" "-13113" "0" "c.-13113G>A" "r.(?)" "p.(=)" "" "0000510311" "00009585" "10" "-12770" "0" "-12770" "0" "c.-12770G>A" "r.(?)" "p.(=)" "" "0000510312" "00009585" "10" "-11134" "0" "-11134" "0" "c.-11134T>C" "r.(?)" "p.(=)" "" "0000688408" "00009585" "50" "-13333" "0" "-13333" "0" "c.-13333G>A" "r.(?)" "p.(=)" "" "0000718004" "00009585" "50" "-13404" "0" "-13404" "0" "c.-13404G>A" "r.(?)" "p.(=)" "" "0000718005" "00009585" "30" "-12873" "0" "-12873" "0" "c.-12873G>T" "r.(?)" "p.(=)" "" "0000849085" "00009585" "10" "-11416" "0" "-11416" "0" "c.-11416T>C" "r.(?)" "p.(=)" "" "0000857875" "00009585" "30" "-11424" "0" "-11421" "0" "c.-11424_-11421del" "r.(?)" "p.(=)" "" "0000928321" "00009585" "30" "-13404" "0" "-13404" "0" "c.-13404G>A" "r.(?)" "p.(=)" "" "0000928322" "00009585" "30" "-13162" "0" "-13162" "0" "c.-13162T>G" "r.(?)" "p.(=)" "" "0000991847" "00009585" "50" "-11296" "0" "-11296" "0" "c.-11296A>G" "r.(?)" "p.(=)" "" "0001013415" "00009585" "10" "-12928" "0" "-12928" "0" "c.-12928C>G" "r.(?)" "p.(=)" "" "0001024263" "00009585" "30" "-13268" "0" "-13268" "0" "c.-13268G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000079949" "0000128827"