### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DOCK3) # 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}}" "DOCK3" "dedicator of cytokinesis 3" "3" "p21" "unknown" "NG_028012.2" "UD_132118658099" "" "https://www.LOVD.nl/DOCK3" "" "1" "2989" "1795" "603123" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/DOCK3_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2019-02-01 09:30:40" "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}}" "00001027" "DOCK3" "dedicator of cytokinesis 3" "001" "NM_004947.4" "" "NP_004938.1" "" "" "" "-23" "8732" "6093" "50712672" "51421629" "00000" "2012-09-13 13:08:05" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04147" "MRT" "mental retardation, autosomal recessive (MRT, intellectual disability (IDT))" "" "" "" "autosomal recessive" "" "00006" "2014-10-11 12:21:35" "00006" "2018-12-18 09:25:11" "05555" "NEDIDHA" "neurodevelopmental disorder, impaired intellectual development, hypotonia, and ataxia (NEDIDHA)" "AR" "618292" "" "autosomal recessive" "" "00006" "2019-02-01 10:05:41" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DOCK3" "05555" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00218378" "" "" "" "1" "" "03187" "" "" "M" "no" "Netherlands" "08y05m" "0" "" "" "european" "961780" "00218928" "" "" "" "1" "" "00006" "{PMID:Helbig 2017:28195318}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives" "F;M" "no" "United States" "" "0" "" "" "Jewish-Ashkenazi;Yemen" "28195318-FamPat11/12" "00218929" "" "" "" "1" "" "00006" "{PMID:Iwata-Otsubo 2018:29130632}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "United States" "" "0" "" "" "" "29130632-FamPat" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00218378" "04147" "00218928" "04147" "00218929" "04147" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01157, 04147, 05555 ## Count = 5 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "0000166818" "04147" "00218378" "03187" "Familial, autosomal recessive" "08y05m" "hypotonia\r\ndevelopmental delay" "<01y" "" "" "" "" "" "" "autosomal recessive mental retardation" "developmental delay" "0000167469" "04147" "00218928" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "NEDIDHA" "" "0000167470" "04147" "00218929" "00006" "Familial, autosomal recessive" "00y24m" "see paper; neurodevelopmental disorder, impaired intellectual development, hypotonia, ataxia, ..." "" "" "" "" "" "" "" "NEDIDHA" "" ## 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}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000219447" "00218378" "1" "03187" "03187" "2019-01-24 18:37:24" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000219999" "00218928" "1" "00006" "00006" "2019-02-01 10:15:42" "" "" "arrayCGH" "DNA" "" "" "0000220000" "00218928" "1" "00006" "00006" "2019-02-01 10:32:03" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000220001" "00218929" "1" "00006" "00006" "2019-02-01 10:42:13" "" "" "arraySNP" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000219999" "DOCK3" "0000220000" "DOCK3" "0000220001" "DOCK3" ## 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 = 26 "{{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}}" "0000003863" "3" "50" "3" "50757234" "50757234" "subst" "0" "00037" "DOCK3_000003" "g.50757234C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.50719803C>T" "" "VUS" "" "0000003864" "3" "50" "3" "50757396" "50757396" "subst" "0" "00037" "DOCK3_000004" "g.50757396A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.50719965A>G" "" "VUS" "" "0000011846" "3" "50" "3" "51245326" "51245326" "subst" "0" "00037" "DOCK3_000002" "g.51245326G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51207895G>A" "" "VUS" "" "0000011847" "3" "50" "3" "51245349" "51245349" "subst" "0" "00037" "DOCK3_000001" "g.51245349G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51207918G>T" "" "VUS" "" "0000256130" "0" "50" "3" "51378788" "51378788" "subst" "0.000256646" "01943" "DOCK3_000006" "g.51378788A>G" "" "" "" "DOCK3(NM_004947.4):c.3887A>G (p.K1296R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51341357A>G" "" "VUS" "" "0000275463" "0" "30" "3" "51251601" "51251601" "subst" "0.000614806" "01943" "DOCK3_000005" "g.51251601G>A" "" "" "" "DOCK3(NM_004947.4):c.1175G>A (p.R392Q), DOCK3(NM_004947.5):c.1175G>A (p.R392Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51214170G>A" "" "likely benign" "" "0000343300" "0" "50" "3" "51284209" "51284209" "subst" "4.07737E-6" "02327" "DOCK3_000007" "g.51284209C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51246778C>T" "" "VUS" "" "0000454303" "21" "50" "3" "51251601" "51251601" "subst" "0.000614806" "03187" "DOCK3_000005" "g.51251601G>A" "" "" "" "" "" "Germline" "-" "" "0" "" "" "g.51214170G>A" "" "VUS" "" "0000454304" "11" "50" "3" "51378788" "51378788" "subst" "0.000256646" "03187" "DOCK3_000006" "g.51378788A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51341357A>G" "" "VUS" "" "0000454874" "11" "90" "3" "50800000" "51247265" "del" "0" "00006" "DOCK3_000008" "g.(50800000_50789040)_(51247265_51250000)del" "" "{PMID:Helbig 2017:28195318}" "" "del 5 089 040‐5 147265, corrected" "458 kb deletion" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000454875" "21" "90" "3" "51101945" "51101945" "subst" "0" "00006" "DOCK3_000009" "g.51101945C>T" "" "{PMID:Helbig 2017:28195318}" "" "382C>G (Gln128*)" "" "Germline" "yes" "" "0" "" "" "g.51064514C>T" "" "pathogenic (recessive)" "" "0000454876" "3" "90" "3" "51065000" "51232768" "del" "0" "00006" "DOCK3_000010" "g.(51065000_51062402)_(51232768_51235000)del" "" "{PMID:Iwata-Otsubo 2018:29130632}" "" "del 51062402-51232768" "170 kb homozygos deletion ex6-12" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000520296" "0" "50" "3" "51417612" "51417612" "subst" "0" "01943" "DOCK3_000011" "g.51417612G>C" "" "" "" "DOCK3(NM_004947.4):c.5557G>C (p.A1853P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51380181G>C" "" "VUS" "" "0000608789" "0" "70" "3" "51127708" "51127711" "dup" "0" "02327" "DOCK3_000012" "g.51127708_51127711dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51090277_51090280dup" "" "likely pathogenic" "" "0000608790" "0" "30" "3" "51413184" "51413184" "subst" "0" "01943" "DOCK3_000013" "g.51413184G>A" "" "" "" "DOCK3(NM_004947.4):c.5418G>A (p.P1806=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51375753G>A" "" "likely benign" "" "0000677062" "0" "50" "3" "51418482" "51418482" "subst" "0" "01943" "DOCK3_000014" "g.51418482C>A" "" "" "" "DOCK3(NM_004947.4):c.5585C>A (p.S1862Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689115" "0" "50" "3" "51386314" "51386314" "subst" "4.94271E-6" "02325" "DOCK3_000015" "g.51386314A>T" "" "" "" "DOCK3(NM_004947.5):c.3947A>T (p.E1316V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859095" "0" "50" "3" "51349945" "51349945" "subst" "0" "01943" "DOCK3_000016" "g.51349945A>G" "" "" "" "DOCK3(NM_004947.4):c.3132A>G (p.I1044M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885916" "0" "30" "3" "51251601" "51251601" "subst" "0.000614806" "02326" "DOCK3_000005" "g.51251601G>A" "" "" "" "DOCK3(NM_004947.4):c.1175G>A (p.R392Q), DOCK3(NM_004947.5):c.1175G>A (p.R392Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911975" "0" "50" "3" "51399303" "51399303" "subst" "0.00120991" "02325" "DOCK3_000017" "g.51399303A>T" "" "" "" "DOCK3(NM_004947.5):c.5020A>T (p.M1674L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024839" "0" "50" "3" "51308421" "51308421" "subst" "0.000312182" "02325" "DOCK3_000018" "g.51308421G>A" "" "" "" "DOCK3(NM_004947.5):c.2531G>A (p.R844H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024840" "0" "50" "3" "51412013" "51412013" "subst" "0.000203774" "02325" "DOCK3_000019" "g.51412013G>A" "" "" "" "DOCK3(NM_004947.5):c.5407G>A (p.G1803R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051347" "0" "50" "3" "51418535" "51418535" "subst" "0" "01804" "DOCK3_000020" "g.51418535G>A" "" "" "" "DOCK3(NM_004947.5):c.5638G>A (p.(Gly1880Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063979" "0" "50" "3" "51294716" "51294716" "subst" "0" "02325" "DOCK3_000021" "g.51294716C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063980" "0" "50" "3" "51308399" "51308399" "subst" "4.07657E-6" "02325" "DOCK3_000022" "g.51308399A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063981" "0" "30" "3" "51378717" "51378717" "subst" "0.000369961" "02325" "DOCK3_000023" "g.51378717C>G" "" "" "" "" "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 DOCK3 ## Count = 26 "{{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}}" "0000003863" "00001027" "50" "37" "44503" "37" "44503" "c.37+44503C>T" "r.(=)" "p.(=)" "" "0000003864" "00001027" "50" "37" "44665" "37" "44665" "c.37+44665A>G" "r.(=)" "p.(=)" "" "0000011846" "00001027" "50" "1038" "-879" "1038" "-879" "c.1038-879G>A" "r.(=)" "p.(=)" "" "0000011847" "00001027" "50" "1038" "-856" "1038" "-856" "c.1038-856G>T" "r.(=)" "p.(=)" "" "0000256130" "00001027" "50" "3887" "0" "3887" "0" "c.3887A>G" "r.(?)" "p.(Lys1296Arg)" "" "0000275463" "00001027" "30" "1175" "0" "1175" "0" "c.1175G>A" "r.(?)" "p.(Arg392Gln)" "" "0000343300" "00001027" "50" "2155" "0" "2155" "0" "c.2155C>T" "r.(?)" "p.(Arg719Ter)" "" "0000454303" "00001027" "50" "1175" "0" "1175" "0" "c.1175G>A" "r.(?)" "p.(Arg392Gln)" "" "0000454304" "00001027" "50" "3887" "0" "3887" "0" "c.3887A>G" "r.(?)" "p.(Lys1296Arg)" "" "0000454874" "00001027" "90" "38" "-27066" "1126" "972" "c.(37+1_38-27066)_(1126+972_1127-1)del" "r.?" "p.?" "1i_13i" "0000454875" "00001027" "90" "382" "0" "382" "0" "c.382C>T" "r.(?)" "p.(Gln128*)" "6" "0000454876" "00001027" "90" "316" "-39477" "1038" "-13437" "c.(315+1_316-39477)_(1038-13437_1038-1)del" "r.(?)" "p.(Lys106Valfs*6)" "5i_12i" "0000520296" "00001027" "50" "5557" "0" "5557" "0" "c.5557G>C" "r.(?)" "p.(Ala1853Pro)" "" "0000608789" "00001027" "70" "639" "0" "642" "0" "c.639_642dup" "r.(?)" "p.(His215AlafsTer28)" "" "0000608790" "00001027" "30" "5418" "0" "5418" "0" "c.5418G>A" "r.(?)" "p.(Pro1806=)" "" "0000677062" "00001027" "50" "5585" "0" "5585" "0" "c.5585C>A" "r.(?)" "p.(Ser1862Tyr)" "" "0000689115" "00001027" "50" "3947" "0" "3947" "0" "c.3947A>T" "r.(?)" "p.(Glu1316Val)" "" "0000859095" "00001027" "50" "3132" "0" "3132" "0" "c.3132A>G" "r.(?)" "p.(Ile1044Met)" "" "0000885916" "00001027" "30" "1175" "0" "1175" "0" "c.1175G>A" "r.(?)" "p.(Arg392Gln)" "" "0000911975" "00001027" "50" "5020" "0" "5020" "0" "c.5020A>T" "r.(?)" "p.(Met1674Leu)" "" "0001024839" "00001027" "50" "2531" "0" "2531" "0" "c.2531G>A" "r.(?)" "p.(Arg844His)" "" "0001024840" "00001027" "50" "5407" "0" "5407" "0" "c.5407G>A" "r.(?)" "p.(Gly1803Arg)" "" "0001051347" "00001027" "50" "5638" "0" "5638" "0" "c.5638G>A" "r.(?)" "p.(Gly1880Ser)" "" "0001063979" "00001027" "50" "2185" "-2871" "2185" "-2871" "c.2185-2871C>T" "r.(=)" "p.(=)" "" "0001063980" "00001027" "50" "2509" "0" "2509" "0" "c.2509A>G" "r.(?)" "p.(Ile837Val)" "" "0001063981" "00001027" "30" "3816" "0" "3816" "0" "c.3816C>G" "r.(?)" "p.(Asp1272Glu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000000209" "0000003863" "0000000209" "0000003864" "0000000210" "0000011846" "0000000210" "0000011847" "0000219447" "0000454303" "0000219447" "0000454304" "0000219999" "0000454874" "0000220000" "0000454875" "0000220001" "0000454876"