### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HOXD13) # 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}}" "HOXD13" "homeobox D13" "2" "q31.1" "unknown" "NG_008137.1" "UD_132084489039" "" "http://www.LOVD.nl/HOXD13" "" "1" "5136" "3239" "142989" "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/HOXD13_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-05-09 21:12:59" "00000" "2025-05-05 21:14:00" ## 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}}" "00009590" "HOXD13" "homeobox D13" "001" "NM_000523.3" "" "NP_000514.2" "" "" "" "-87" "2240" "1032" "176957532" "176960666" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "01212" "BDD" "brachydactyly, type D (BD-D)" "AD" "113200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01213" "BDE1" "brachydactyly type E1 (BD-E1)" "AD" "113300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01572" "SPD1;SDTY2" "synpolydactyly, type 1 (SPD-1, syndactyly type II (SDTY-2))" "AD" "186000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01573" "SDTY5" "syndactyly, type V, with metacarpal and metatarsal fusion (SDTY-5)" "AD" "186300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01595" "VATER" "vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, radial or renal dysplasia, assoc. (VATER)" "" "192350" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:59:30" "02973" "BDSD" "brachydactyly-syndactyly syndrome (BDSD)" "" "610713" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-05-10 08:44:05" "03320" "BDE2" "brachydactyly type E2 (BD-E2)" "AD" "613382" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{geneid}}" "{{diseaseid}}" "HOXD13" "01212" "HOXD13" "01213" "HOXD13" "01572" "HOXD13" "01573" "HOXD13" "01595" "HOXD13" "02973" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00079981" "" "" "" "2" "" "01744" "{PMID:Jamsheer 2012:22233338}" "2-generation family, 2 affected (proband: daughter; father)" "F;M" "" "Poland" "" "0" "" "" "European" "" "00079982" "" "" "" "12" "" "01744" "{PMID:Johnson 2003:12649808}" "4-generation family, 12 affecteds (only 9 individuals examined: 6F, 3M)" "F;M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00079983" "" "" "" "8" "" "01744" "{PMID:Johnson 2003:12649808}" "4-generation family, 8 affecteds (6F, 2M)" "F;M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00079984" "" "" "" "8" "" "01744" "{PMID:Johnson 2003:12649808}" "3-generation family, 8 affecteds (only 7 individuals examined 4F, 3M)" "F;M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00316093" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "fetus" "" "" "France" "" "0" "" "" "" "K126" "00443881" "" "" "" "1" "" "00006" "{PMID:Chatron 2020:32282878}" "3-generation family, 1 affected brother, unaffected heterozygous parents/relatives" "F" "yes" "Brazil" "" "0" "" "" "" "FamFPatIV1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00079981" "03320" "00079982" "01212" "00079982" "03320" "00079983" "01212" "00079983" "03320" "00079984" "01212" "00079984" "03320" "00316093" "05342" "00443881" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01212, 01213, 01572, 01573, 01595, 02973, 03320, 05342, 06906 ## Count = 6 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Length/Stature}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Growth}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000059637" "03320" "00079981" "01744" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059638" "01212" "00079982" "01744" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059639" "01212" "00079983" "01744" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059640" "01212" "00079984" "01744" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000239840" "05342" "00316093" "00006" "Unknown" "" "bilateral kidney agenesis" "" "" "" "" "" "" "" "" "" "" "" "bilateral kidney agenesis" "0000333158" "06906" "00443881" "00006" "Familial, autosomal recessive" "6y11m" "see paper; ..., 7d-myoclonic seizure; tonic seizures, epileptic spasms, focal seizures; EEG at onset suppression-burst pattern; occasional seizure; dystonia and hyperkinetic movements; profound intellectual disability; no pes equinovarus; no omphalocele; no cleft palate; joint contractures; no dysmorphic facial features; MRI brain 4m-normal, 13m-mild cerebral atrophy, 6y-mild cerebral atrophy with ventricular dilation" "" "" "" "" "" "" "" "" "" "" "DEE89" "neonatal developmental and epileptic encephalopathy" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000080060" "00079981" "1" "01744" "01744" "2016-08-30 13:11:18" "" "" "SEQ" "DNA" "peripheral blood" "" "0000080061" "00079982" "1" "01744" "01744" "2016-08-30 14:05:17" "" "" "SEQ" "DNA" "peripheral blood" "" "0000080062" "00079983" "1" "01744" "01744" "2016-08-30 14:33:51" "" "" "SEQ" "DNA" "peripheral blood" "" "0000080063" "00079984" "1" "01744" "01744" "2016-08-30 14:38:43" "" "" "SEQ" "DNA" "peripheral blood" "" "0000317275" "00316093" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000445378" "00443881" "1" "00006" "00006" "2023-12-05 10:17:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000080060" "HOXD13" "0000080061" "HOXD13" "0000080062" "HOXD13" "0000080063" "HOXD13" "0000317275" "FAT4" "0000317275" "HOXD13" ## 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 = 47 "{{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}}" "0000128937" "11" "70" "2" "176959246" "176959246" "subst" "8.1217E-6" "01744" "HOXD13_000003" "g.176959246C>T" "" "{PMID:Jamsheer et al. 2012:22233338}" "" "" "" "Germline" "yes" "" "0" "" "" "g.176094518C>T" "" "likely pathogenic" "" "0000128938" "21" "90" "2" "176959390" "176959390" "subst" "0" "01744" "HOXD13_000004" "g.176959390A>C" "" "{PMID:Johnson et al. 2003:12649808}" "" "c.A940C / p.I314L" "" "Germline" "yes" "" "0" "" "" "g.176094662A>C" "" "pathogenic" "" "0000128939" "21" "90" "2" "176959390" "176959390" "subst" "8.1215E-6" "01744" "HOXD13_000005" "g.176959390A>G" "" "{PMID:Johnson et al. 2003:12649808}" "" "c.A940C / p.I314L" "" "Germline" "yes" "" "0" "" "" "g.176094662A>G" "" "pathogenic" "" "0000128940" "0" "90" "2" "176959373" "176959373" "subst" "0" "01744" "HOXD13_000001" "g.176959373C>G" "" "{PMID:Johnson et al. 2003:12649808}" "" "c.C923G / p.S308C" "" "Germline" "yes" "" "0" "" "" "g.176094645C>G" "" "pathogenic" "" "0000255673" "0" "90" "2" "176959206" "176959206" "del" "4.06167E-6" "01943" "HOXD13_000010" "g.176959206del" "" "" "" "HOXD13(NM_000523.3):c.782-2delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.176094478del" "" "pathogenic" "" "0000289161" "0" "10" "2" "176957822" "176957822" "subst" "0" "01943" "HOXD13_000007" "g.176957822G>A" "" "" "" "HOXD13(NM_000523.3):c.204G>A (p.A68=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.176093094G>A" "" "benign" "" "0000289163" "0" "10" "2" "176957659" "176957659" "subst" "0" "01943" "HOXD13_000006" "g.176957659C>T" "" "" "" "HOXD13(NM_000523.3):c.41C>T (p.A14V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.176092931C>T" "" "benign" "" "0000289164" "0" "90" "2" "176959320" "176959322" "del" "0" "01943" "HOXD13_000009" "g.176959320_176959322del" "" "" "" "HOXD13(NM_000523.3):c.894_896delCAA (p.N298del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.176094592_176094594del" "" "pathogenic" "" "0000510300" "0" "30" "2" "176957801" "176957809" "del" "0" "01804" "HOXD13_000012" "g.176957801_176957809del" "" "" "" "HOXD13(NM_000523.3):c.183_191del (p.(Ala69_Ala71del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.176093073_176093081del" "" "likely benign" "" "0000510304" "0" "90" "2" "176957830" "176957831" "ins" "0" "01943" "HOXD13_000016" "g.176957830_176957831insGGCGGCTGCGGCGGCGGCAGCGGCAGC" "" "" "" "HOXD13(NM_000523.3):c.212_213insGGCGGCTGCGGCGGCGGCAGCGGCAGC (p.A63_A71dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.176093102_176093103insGGCGGCTGCGGCGGCGGCAGCGGCAGC" "" "pathogenic" "" "0000510305" "0" "30" "2" "176958235" "176958235" "subst" "0.0011849" "02325" "HOXD13_000017" "g.176958235A>G" "" "" "" "HOXD13(NM_000523.3):c.617A>G (p.(Tyr206Cys)), HOXD13(NM_000523.4):c.617A>G (p.Y206C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.176093507A>G" "" "likely benign" "" "0000510306" "0" "70" "2" "176958339" "176958339" "subst" "0" "02327" "HOXD13_000018" "g.176958339C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.176093611C>T" "" "likely pathogenic" "" "0000510307" "0" "50" "2" "176959557" "176959557" "del" "0" "01943" "HOXD12_000001" "g.176959557del" "" "" "" "HOXD13(NM_000523.3):c.*99delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.176094829del" "" "VUS" "" "0000510308" "0" "30" "2" "176964834" "176964834" "subst" "0.00059807" "01804" "HOXD12_000002" "g.176964834C>A" "" "" "" "HOXD12(NM_021193.3):c.305C>A (p.(Ala102Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.176100106C>A" "" "likely benign" "" "0000606358" "0" "30" "2" "176957724" "176957726" "dup" "0" "01804" "HOXD13_000019" "g.176957724_176957726dup" "" "" "" "HOXD13(NM_000523.3):c.92_93insGGC (p.(Val31_Ala32insAla))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.176092996_176092998dup" "" "likely benign" "" "0000606359" "0" "30" "2" "176957810" "176957818" "dup" "0" "01804" "HOXD13_000020" "g.176957810_176957818dup" "" "" "" "HOXD13(NM_000523.3):c.183_184insGCGGCGGCT (p.(Ala59_Ala61dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.176093082_176093090dup" "" "likely benign" "" "0000606360" "0" "30" "2" "176957818" "176957819" "ins" "0" "01804" "HOXD13_000021" "g.176957818_176957819insTGC" "" "" "" "HOXD13(NM_000523.3):c.198_199insGCT (p.(Ala66dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.176093090_176093091insTGC" "" "likely benign" "" "0000606361" "0" "30" "2" "176957825" "176957830" "dup" "0" "01804" "HOXD13_000022" "g.176957825_176957830dup" "" "" "" "HOXD13(NM_000523.3):c.204_205insGCGGCA (p.(Ala67_Ala68dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.176093097_176093102dup" "" "likely benign" "" "0000654290" "0" "30" "2" "176958235" "176958235" "subst" "0.0011849" "01804" "HOXD13_000017" "g.176958235A>G" "" "" "" "HOXD13(NM_000523.3):c.617A>G (p.(Tyr206Cys)), HOXD13(NM_000523.4):c.617A>G (p.Y206C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.176093507A>G" "" "likely benign" "" "0000676118" "0" "50" "2" "176957713" "176957713" "subst" "0" "01804" "HOXD13_000023" "g.176957713C>T" "" "" "" "HOXD13(NM_000523.3):c.95C>T (p.(Ala32Val)), HOXD13(NM_000523.4):c.95C>T (p.A32V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688407" "0" "50" "2" "176957650" "176957650" "subst" "0.000186081" "02325" "HOXD13_000024" "g.176957650G>C" "" "" "" "HOXD13(NM_000523.3):c.32G>C (p.(Gly11Ala)), HOXD13(NM_000523.4):c.32G>C (p.G11A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000699910" "0" "70" "2" "0" "0" "" "0" "00006" "SNRNP200_000007" "g.?" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000857874" "0" "50" "2" "176959348" "176959348" "subst" "4.06062E-6" "01804" "HOXD13_000025" "g.176959348C>T" "" "" "" "HOXD13(NM_000523.3):c.922C>T (p.(Arg308Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883922" "0" "50" "2" "176957801" "176957809" "dup" "0" "01804" "HOXD13_000026" "g.176957801_176957809dup" "" "" "" "HOXD13(NM_000523.3):c.174_175insGCGGCGGCA (p.(Ala69_Ala71dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883923" "0" "50" "2" "176957821" "176957822" "ins" "0" "02325" "HOXD13_000027" "g.176957821_176957822insA" "" "" "" "HOXD13(NM_000523.4):c.203_204insA (p.A69Gfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883924" "0" "50" "2" "176957822" "176957823" "ins" "0" "02325" "HOXD13_000028" "g.176957822_176957823insCGGCA" "" "" "" "HOXD13(NM_000523.4):c.204_205insCGGCA (p.A69Rfs*29)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923345" "0" "50" "2" "176965259" "176965259" "subst" "8.7967E-6" "01804" "HOXD12_000003" "g.176965259G>T" "" "" "" "HOXD12(NM_021193.3):c.584G>T (p.(Trp195Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947417" "0" "50" "2" "176957721" "176957726" "dup" "0" "02325" "HOXD13_000029" "g.176957721_176957726dup" "" "" "" "HOXD13(NM_000523.4):c.103_108dupGCGGCG (p.A35_A36dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000952367" "3" "50" "2" "176957820" "176957820" "subst" "0" "00006" "HOXD13_000030" "g.176957820G>C" "" "{PMID:Chatron 2020:32282878}" "" "ENST00000392539:c.202G>C" "" "Germline" "" "" "0" "" "" "g.176093092G>C" "" "VUS" "" "0000961443" "0" "30" "2" "176957753" "176957753" "subst" "0.000254665" "02326" "HOXD13_000031" "g.176957753C>T" "" "" "" "HOXD13(NM_000523.4):c.135C>T (p.S45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974487" "0" "50" "2" "176957671" "176957671" "subst" "0" "01804" "HOXD13_000032" "g.176957671G>T" "" "" "" "HOXD13(NM_000523.4):c.53G>T (p.(Gly18Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974488" "0" "50" "2" "176957713" "176957713" "subst" "0" "02326" "HOXD13_000023" "g.176957713C>T" "" "" "" "HOXD13(NM_000523.3):c.95C>T (p.(Ala32Val)), HOXD13(NM_000523.4):c.95C>T (p.A32V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974489" "0" "30" "2" "176957778" "176957778" "subst" "0" "01804" "HOXD13_000033" "g.176957778T>A" "" "" "" "HOXD13(NM_000523.4):c.160T>A (p.(Ser54Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974490" "0" "50" "2" "176957798" "176957809" "dup" "0" "01804" "HOXD13_000034" "g.176957798_176957809dup" "" "" "" "HOXD13(NM_000523.4):c.180_191dup (p.(Ala68_Ala71dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974491" "0" "50" "2" "176964944" "176964944" "subst" "2.50282E-5" "01804" "HOXD12_000004" "g.176964944T>C" "" "" "" "HOXD12(NM_021193.4):c.415T>C (p.(Tyr139His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991840" "0" "30" "2" "176957650" "176957650" "subst" "0.000186081" "01804" "HOXD13_000024" "g.176957650G>C" "" "" "" "HOXD13(NM_000523.3):c.32G>C (p.(Gly11Ala)), HOXD13(NM_000523.4):c.32G>C (p.G11A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991841" "0" "30" "2" "176957810" "176957818" "del" "0" "01804" "HOXD13_000035" "g.176957810_176957818del" "" "" "" "HOXD13(NM_000523.3):c.192_200delTGCGGCGGC (p.(Ala65_Ala67del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991842" "0" "50" "2" "176957848" "176957848" "subst" "0" "01804" "HOXD13_000036" "g.176957848C>G" "" "" "" "HOXD13(NM_000523.3):c.230C>G (p.(Pro77Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991843" "0" "50" "2" "176957914" "176957914" "subst" "2.12945E-5" "01804" "HOXD13_000037" "g.176957914C>G" "" "" "" "HOXD13(NM_000523.3):c.296C>G (p.(Pro99Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991844" "0" "50" "2" "176957916" "176957916" "subst" "0" "01804" "HOXD13_000038" "g.176957916G>C" "" "" "" "HOXD13(NM_000523.3):c.298G>C (p.(Glu100Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991845" "0" "50" "2" "176958118" "176958118" "subst" "0.0005651" "01804" "HOXD13_000039" "g.176958118A>G" "" "" "" "HOXD13(NM_000523.3):c.500A>G (p.(Tyr167Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991846" "0" "50" "2" "176958346" "176958346" "subst" "0" "01804" "HOXD13_000040" "g.176958346A>C" "" "" "" "HOXD13(NM_000523.3):c.728A>C (p.(Tyr243Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032544" "0" "50" "2" "176957639" "176957639" "subst" "0" "01804" "HOXD13_000041" "g.176957639G>A" "" "" "" "HOXD13(NM_000523.4):c.21G>A (p.(Trp7*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032545" "0" "50" "2" "176957644" "176957644" "subst" "0" "01804" "HOXD13_000042" "g.176957644T>G" "" "" "" "HOXD13(NM_000523.4):c.26T>G (p.(Met9Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032546" "0" "50" "2" "176957798" "176957800" "dup" "0" "01804" "HOXD13_000043" "g.176957798_176957800dup" "" "" "" "HOXD13(NM_000523.4):c.180_182dup (p.(Ala71dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032547" "0" "50" "2" "176957833" "176957833" "subst" "0" "01804" "HOXD13_000044" "g.176957833C>T" "" "" "" "HOXD13(NM_000523.4):c.215C>T (p.(Ser72Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032548" "0" "50" "2" "176959261" "176959261" "subst" "0" "01804" "HOXD13_000045" "g.176959261A>G" "" "" "" "HOXD13(NM_000523.4):c.835A>G (p.(Lys279Glu))" "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 HOXD13 ## Count = 47 "{{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}}" "0000128937" "00009590" "70" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Arg274*)" "2" "0000128938" "00009590" "90" "964" "0" "964" "0" "c.964A>C" "r.(?)" "p.(Ile322Leu)" "2" "0000128939" "00009590" "90" "964" "0" "964" "0" "c.964A>G" "r.(?)" "p.(Ile322Val)" "2" "0000128940" "00009590" "90" "947" "0" "947" "0" "c.947C>G" "r.(?)" "p.(Ser316Cys)" "2" "0000255673" "00009590" "90" "782" "-2" "782" "-2" "c.782-2del" "r.spl?" "p.?" "" "0000289161" "00009590" "10" "204" "0" "204" "0" "c.204G>A" "r.(?)" "p.(Ala68=)" "" "0000289163" "00009590" "10" "41" "0" "41" "0" "c.41C>T" "r.(?)" "p.(Ala14Val)" "" "0000289164" "00009590" "90" "894" "0" "896" "0" "c.894_896del" "r.(?)" "p.(Asn298del)" "" "0000510300" "00009590" "30" "183" "0" "191" "0" "c.183_191del" "r.(?)" "p.(Ala69_Ala71del)" "" "0000510304" "00009590" "90" "212" "0" "213" "0" "c.212_213insGGCGGCTGCGGCGGCGGCAGCGGCAGC" "r.(?)" "p.(Ala63_Ala71dup)" "" "0000510305" "00009590" "30" "617" "0" "617" "0" "c.617A>G" "r.(?)" "p.(Tyr206Cys)" "" "0000510306" "00009590" "70" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Gln241Ter)" "" "0000510307" "00009590" "50" "1131" "0" "1131" "0" "c.*99del" "r.(?)" "p.(=)" "" "0000510308" "00009590" "30" "6408" "0" "6408" "0" "c.*5376C>A" "r.(=)" "p.(=)" "" "0000606358" "00009590" "30" "106" "0" "108" "0" "c.106_108dup" "r.(?)" "p.(Ala36dup)" "" "0000606359" "00009590" "30" "192" "0" "200" "0" "c.192_200dup" "r.(?)" "p.(Ala69_Ala71dup)" "" "0000606360" "00009590" "30" "200" "0" "201" "0" "c.200_201insTGC" "r.(?)" "p.(Ala71dup)" "" "0000606361" "00009590" "30" "207" "0" "212" "0" "c.207_212dup" "r.(?)" "p.(Ala70_Ala71dup)" "" "0000654290" "00009590" "30" "617" "0" "617" "0" "c.617A>G" "r.(?)" "p.(Tyr206Cys)" "" "0000676118" "00009590" "50" "95" "0" "95" "0" "c.95C>T" "r.(?)" "p.(Ala32Val)" "" "0000688407" "00009590" "50" "32" "0" "32" "0" "c.32G>C" "r.(?)" "p.(Gly11Ala)" "" "0000699910" "00009590" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Glu81*)" "" "0000857874" "00009590" "50" "922" "0" "922" "0" "c.922C>T" "r.(?)" "p.(Arg308Cys)" "" "0000883922" "00009590" "50" "183" "0" "191" "0" "c.183_191dup" "r.(?)" "p.(Ala69_Ala71dup)" "" "0000883923" "00009590" "50" "203" "0" "204" "0" "c.203_204insA" "r.(?)" "p.(Ala69Glyfs*13)" "" "0000883924" "00009590" "50" "204" "0" "205" "0" "c.204_205insCGGCA" "r.(?)" "p.(Ala69Argfs*29)" "" "0000923345" "00009590" "50" "6833" "0" "6833" "0" "c.*5801G>T" "r.(=)" "p.(=)" "" "0000947417" "00009590" "50" "103" "0" "108" "0" "c.103_108dup" "r.(?)" "p.(Ala35_Ala36dup)" "" "0000952367" "00009590" "50" "202" "0" "202" "0" "c.202G>C" "r.(?)" "p.(Ala68Pro)" "" "0000961443" "00009590" "30" "135" "0" "135" "0" "c.135C>T" "r.(?)" "p.(=)" "" "0000974487" "00009590" "50" "53" "0" "53" "0" "c.53G>T" "r.(?)" "p.(Gly18Val)" "" "0000974488" "00009590" "50" "95" "0" "95" "0" "c.95C>T" "r.(?)" "p.(Ala32Val)" "" "0000974489" "00009590" "30" "160" "0" "160" "0" "c.160T>A" "r.(?)" "p.(Ser54Thr)" "" "0000974490" "00009590" "50" "180" "0" "191" "0" "c.180_191dup" "r.(?)" "p.(Ala68_Ala71dup)" "" "0000974491" "00009590" "50" "6518" "0" "6518" "0" "c.*5486T>C" "r.(=)" "p.(=)" "" "0000991840" "00009590" "30" "32" "0" "32" "0" "c.32G>C" "r.(?)" "p.(Gly11Ala)" "" "0000991841" "00009590" "30" "192" "0" "200" "0" "c.192_200del" "r.(?)" "p.(Ala69_Ala71del)" "" "0000991842" "00009590" "50" "230" "0" "230" "0" "c.230C>G" "r.(?)" "p.(Pro77Arg)" "" "0000991843" "00009590" "50" "296" "0" "296" "0" "c.296C>G" "r.(?)" "p.(Pro99Arg)" "" "0000991844" "00009590" "50" "298" "0" "298" "0" "c.298G>C" "r.(?)" "p.(Glu100Gln)" "" "0000991845" "00009590" "50" "500" "0" "500" "0" "c.500A>G" "r.(?)" "p.(Tyr167Cys)" "" "0000991846" "00009590" "50" "728" "0" "728" "0" "c.728A>C" "r.(?)" "p.(Tyr243Ser)" "" "0001032544" "00009590" "50" "21" "0" "21" "0" "c.21G>A" "r.(?)" "p.(Trp7*)" "" "0001032545" "00009590" "50" "26" "0" "26" "0" "c.26T>G" "r.(?)" "p.(Met9Arg)" "" "0001032546" "00009590" "50" "180" "0" "182" "0" "c.180_182dup" "r.(?)" "p.(Ala71dup)" "" "0001032547" "00009590" "50" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Ser72Phe)" "" "0001032548" "00009590" "50" "835" "0" "835" "0" "c.835A>G" "r.(?)" "p.(Lys279Glu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000080060" "0000128937" "0000080061" "0000128938" "0000080062" "0000128939" "0000080063" "0000128940" "0000317275" "0000699910" "0000445378" "0000952367"