### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = DOPEY1)
# 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}}"
"DOPEY1" "dopey family member 1" "6" "q15" "unknown" "NC_000006.11" "UD_132465205676" "" "https://www.LOVD.nl/DOP1A" "" "1" "21194" "23033" "616823" "1" "1" "1" "1" "Alias KIAA1117, DOPEY1.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from DOPEY1 to DOP1A" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-12-05 11:50:38" "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}}"
"00006636" "DOPEY1" "transcript variant 1" "001" "NM_015018.3" "" "NP_055833.2" "" "" "" "-260" "7702" "7398" "83777385" "83878190" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 0
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## Individuals ## Do not remove or alter this header ##
## Count = 0
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## Phenotypes ## Do not remove or alter this header ##
## Count = 0
## Screenings ## Do not remove or alter this header ##
## Count = 0
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 0
## 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 = 34
"{{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}}"
"0000305515" "0" "50" "6" "83878990" "83878990" "subst" "0" "01943" "DOPEY1_000003" "g.83878990G>A" "" "" "" "PGM3(NM_001199917.2):c.1676C>T (p.A559V), PGM3(NM_015599.3):c.1592C>T (p.(Ala531Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83169271G>A" "" "VUS" ""
"0000305516" "0" "50" "6" "83898330" "83898330" "subst" "0.000359254" "01943" "PGM3_000001" "g.83898330C>T" "" "" "" "PGM3(NM_001199917.2):c.473+3G>A, PGM3(NM_001367287.1):c.473+3G>A, PGM3(NM_015599.3):c.389+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83188611C>T" "" "VUS" ""
"0000331103" "0" "50" "6" "83831641" "83831641" "subst" "0" "01804" "DOPEY1_000001" "g.83831641A>G" "" "" "" "DOPEY1(NM_001199942.1):c.1073-8A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83121922A>G" "" "VUS" ""
"0000331105" "0" "50" "6" "83900538" "83900538" "subst" "0" "01804" "PGM3_000002" "g.83900538T>A" "" "" "" "PGM3(NM_001199917.1):c.278A>T (p.(His93Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83190819T>A" "" "VUS" ""
"0000346979" "0" "50" "6" "83862076" "83862076" "subst" "0" "02327" "DOPEY1_000004" "g.83862076T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83152357T>G" "" "VUS" ""
"0000529929" "0" "30" "6" "83848215" "83848215" "subst" "0.000163321" "01943" "DOPEY1_000005" "g.83848215T>C" "" "" "" "DOPEY1(NM_001199942.1):c.4427T>C (p.M1476T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83138496T>C" "" "likely benign" ""
"0000529930" "0" "30" "6" "83849974" "83849974" "subst" "1.63435E-5" "01943" "DOPEY1_000006" "g.83849974A>T" "" "" "" "DOPEY1(NM_001199942.1):c.5240A>T (p.E1747V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83140255A>T" "" "likely benign" ""
"0000529931" "0" "30" "6" "83881667" "83881667" "subst" "0.000643737" "02326" "DOPEY1_000007" "g.83881667G>T" "" "" "" "PGM3(NM_001199917.2):c.1438C>A (p.L480I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83171948G>T" "" "likely benign" ""
"0000529932" "0" "30" "6" "83889684" "83889684" "subst" "0" "01943" "DOPEY1_000008" "g.83889684T>G" "" "" "" "PGM3(NM_001199917.2):c.874A>C (p.M292L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83179965T>G" "" "likely benign" ""
"0000529933" "0" "30" "6" "83898365" "83898365" "subst" "1.21883E-5" "02326" "DOPEY1_000009" "g.83898365T>C" "" "" "" "PGM3(NM_001199917.2):c.441A>G (p.Q147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83188646T>C" "" "likely benign" ""
"0000610539" "0" "30" "6" "83898373" "83898373" "subst" "0.000507812" "01943" "DOPEY1_000010" "g.83898373G>T" "" "" "" "PGM3(NM_001199917.2):c.433C>A (p.L145M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83188654G>T" "" "likely benign" ""
"0000621778" "0" "50" "6" "83900610" "83900610" "subst" "1.2182E-5" "01943" "DOPEY1_000011" "g.83900610C>T" "" "" "" "PGM3(NM_001199917.2):c.206G>A (p.R69H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83190891C>T" "" "VUS" ""
"0000677896" "0" "30" "6" "83889675" "83889675" "subst" "4.09715E-6" "01943" "DOPEY1_000012" "g.83889675T>G" "" "" "" "PGM3(NM_001199917.2):c.883A>C (p.K295Q), PGM3(NM_001367287.1):c.883A>C (p.K295Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000677897" "0" "30" "6" "83898406" "83898406" "subst" "0" "01943" "DOPEY1_000013" "g.83898406G>T" "" "" "" "PGM3(NM_001367287.1):c.400C>A (p.L134I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000677898" "0" "30" "6" "83901058" "83901058" "dup" "0" "02326" "DOPEY1_000014" "g.83901058dup" "" "" "" "PGM3(NM_001199917.2):c.-55-13dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000721125" "0" "30" "6" "83839843" "83839843" "subst" "2.8767E-5" "01943" "DOPEY1_000015" "g.83839843C>T" "" "" "" "DOP1A(NM_001199942.1):c.2316C>T (p.D772=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000721126" "0" "50" "6" "83845388" "83845388" "subst" "0.000199253" "01943" "DOPEY1_000016" "g.83845388G>T" "" "" "" "DOP1A(NM_001199942.1):c.2894G>T (p.S965I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000802751" "0" "30" "6" "83898330" "83898330" "subst" "0.000359254" "02326" "PGM3_000001" "g.83898330C>T" "" "" "" "PGM3(NM_001199917.2):c.473+3G>A, PGM3(NM_001367287.1):c.473+3G>A, PGM3(NM_015599.3):c.389+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000860532" "0" "30" "6" "83903532" "83903532" "subst" "0" "01943" "DOPEY1_000017" "g.83903532C>T" "" "" "" "PGM3(NM_001199917.2):c.-56+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000887482" "0" "30" "6" "83889675" "83889675" "subst" "4.09715E-6" "02326" "DOPEY1_000012" "g.83889675T>G" "" "" "" "PGM3(NM_001199917.2):c.883A>C (p.K295Q), PGM3(NM_001367287.1):c.883A>C (p.K295Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000887483" "0" "30" "6" "83900699" "83900699" "subst" "0.000950238" "02326" "DOPEY1_000018" "g.83900699T>C" "" "" "" "PGM3(NM_001199917.2):c.117A>G (p.A39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000924581" "0" "30" "6" "83861440" "83861440" "subst" "0" "02326" "DOPEY1_000019" "g.83861440A>G" "" "" "" "PGM3(NR_159812.2):n.2177T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000924582" "0" "50" "6" "83878970" "83878970" "subst" "0.000463547" "02325" "DOPEY1_000020" "g.83878970G>T" "" "" "" "PGM3(NM_001199917.2):c.1696C>A (p.P566T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000924583" "0" "30" "6" "83878970" "83878970" "subst" "0.000463547" "02326" "DOPEY1_000020" "g.83878970G>T" "" "" "" "PGM3(NM_001199917.2):c.1696C>A (p.P566T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000924584" "0" "30" "6" "83900752" "83900752" "subst" "1.62668E-5" "02326" "DOPEY1_000021" "g.83900752T>C" "" "" "" "PGM3(NM_001199917.2):c.83-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000948782" "0" "30" "6" "83861238" "83861238" "subst" "0" "02326" "DOPEY1_000022" "g.83861238C>T" "" "" "" "PGM3(NR_159812.2):n.2379G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001035940" "0" "50" "6" "83878990" "83878990" "subst" "0" "01804" "DOPEY1_000003" "g.83878990G>A" "" "" "" "PGM3(NM_001199917.2):c.1676C>T (p.A559V), PGM3(NM_015599.3):c.1592C>T (p.(Ala531Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001035941" "0" "30" "6" "83880202" "83880202" "subst" "0" "02325" "DOPEY1_000023" "g.83880202G>A" "" "" "" "PGM3(NM_001199917.2):c.1450-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001035942" "0" "50" "6" "83884131" "83884131" "subst" "4.91872E-5" "01804" "DOPEY1_000024" "g.83884131C>T" "" "" "" "PGM3(NM_015599.3):c.1204G>A (p.(Ala402Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001035943" "0" "50" "6" "83884170" "83884174" "del" "0" "01804" "DOPEY1_000025" "g.83884170_83884174del" "" "" "" "PGM3(NM_015599.3):c.1163_1167del (p.(Lys388Ilefs*8))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001052427" "0" "50" "6" "83880088" "83880088" "subst" "4.06217E-6" "01804" "DOPEY1_000026" "g.83880088C>T" "" "" "" "PGM3(NM_015599.3):c.1475G>A (p.(Arg492Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001052428" "0" "50" "6" "83896759" "83896759" "subst" "0" "01804" "DOPEY1_000027" "g.83896759T>G" "" "" "" "PGM3(NM_015599.3):c.425A>C (p.(Asp142Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001052429" "0" "30" "6" "83898330" "83898330" "subst" "0.000359254" "01804" "PGM3_000001" "g.83898330C>T" "" "" "" "PGM3(NM_001199917.2):c.473+3G>A, PGM3(NM_001367287.1):c.473+3G>A, PGM3(NM_015599.3):c.389+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001064582" "0" "50" "6" "83892663" "83892663" "del" "0" "01804" "DOPEY1_000028" "g.83892663del" "" "" "" "PGM3(NM_015599.3):c.492del (p.(Tyr164*))" "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 DOPEY1
## Count = 34
"{{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}}"
"0000305515" "00006636" "50" "8502" "0" "8502" "0" "c.*1104G>A" "r.(=)" "p.(=)" ""
"0000305516" "00006636" "50" "27842" "0" "27842" "0" "c.*20444C>T" "r.(=)" "p.(=)" ""
"0000331103" "00006636" "50" "1100" "-8" "1100" "-8" "c.1100-8A>G" "r.(=)" "p.(=)" ""
"0000331105" "00006636" "50" "30050" "0" "30050" "0" "c.*22652T>A" "r.(=)" "p.(=)" ""
"0000346979" "00006636" "50" "6119" "0" "6119" "0" "c.6119T>G" "r.(?)" "p.(Leu2040Ter)" ""
"0000529929" "00006636" "30" "4454" "0" "4454" "0" "c.4454T>C" "r.(?)" "p.(Met1485Thr)" ""
"0000529930" "00006636" "30" "5267" "0" "5267" "0" "c.5267A>T" "r.(?)" "p.(Glu1756Val)" ""
"0000529931" "00006636" "30" "11179" "0" "11179" "0" "c.*3781G>T" "r.(=)" "p.(=)" ""
"0000529932" "00006636" "30" "19196" "0" "19196" "0" "c.*11798T>G" "r.(=)" "p.(=)" ""
"0000529933" "00006636" "30" "27877" "0" "27877" "0" "c.*20479T>C" "r.(=)" "p.(=)" ""
"0000610539" "00006636" "30" "27885" "0" "27885" "0" "c.*20487G>T" "r.(=)" "p.(=)" ""
"0000621778" "00006636" "50" "30122" "0" "30122" "0" "c.*22724C>T" "r.(=)" "p.(=)" ""
"0000677896" "00006636" "30" "19187" "0" "19187" "0" "c.*11789T>G" "r.(=)" "p.(=)" ""
"0000677897" "00006636" "30" "27918" "0" "27918" "0" "c.*20520G>T" "r.(=)" "p.(=)" ""
"0000677898" "00006636" "30" "30570" "0" "30570" "0" "c.*23172dup" "r.(?)" "p.(=)" ""
"0000721125" "00006636" "30" "2343" "0" "2343" "0" "c.2343C>T" "r.(?)" "p.(Asp781=)" ""
"0000721126" "00006636" "50" "2921" "0" "2921" "0" "c.2921G>T" "r.(?)" "p.(Ser974Ile)" ""
"0000802751" "00006636" "30" "27842" "0" "27842" "0" "c.*20444C>T" "r.(=)" "p.(=)" ""
"0000860532" "00006636" "30" "33044" "0" "33044" "0" "c.*25646C>T" "r.(=)" "p.(=)" ""
"0000887482" "00006636" "30" "19187" "0" "19187" "0" "c.*11789T>G" "r.(=)" "p.(=)" ""
"0000887483" "00006636" "30" "30211" "0" "30211" "0" "c.*22813T>C" "r.(=)" "p.(=)" ""
"0000924581" "00006636" "30" "5904" "62" "5904" "62" "c.5904+62A>G" "r.(=)" "p.(=)" ""
"0000924582" "00006636" "50" "8482" "0" "8482" "0" "c.*1084G>T" "r.(=)" "p.(=)" ""
"0000924583" "00006636" "30" "8482" "0" "8482" "0" "c.*1084G>T" "r.(=)" "p.(=)" ""
"0000924584" "00006636" "30" "30264" "0" "30264" "0" "c.*22866T>C" "r.(=)" "p.(=)" ""
"0000948782" "00006636" "30" "5838" "-74" "5838" "-74" "c.5838-74C>T" "r.(=)" "p.(=)" ""
"0001035940" "00006636" "50" "8502" "0" "8502" "0" "c.*1104G>A" "r.(=)" "p.(=)" ""
"0001035941" "00006636" "30" "9714" "0" "9714" "0" "c.*2316G>A" "r.(=)" "p.(=)" ""
"0001035942" "00006636" "50" "13643" "0" "13643" "0" "c.*6245C>T" "r.(=)" "p.(=)" ""
"0001035943" "00006636" "50" "13682" "0" "13686" "0" "c.*6284_*6288del" "r.(=)" "p.(=)" ""
"0001052427" "00006636" "50" "9600" "0" "9600" "0" "c.*2202C>T" "r.(=)" "p.(=)" ""
"0001052428" "00006636" "50" "26271" "0" "26271" "0" "c.*18873T>G" "r.(=)" "p.(=)" ""
"0001052429" "00006636" "30" "27842" "0" "27842" "0" "c.*20444C>T" "r.(=)" "p.(=)" ""
"0001064582" "00006636" "50" "22175" "0" "22175" "0" "c.*14777del" "r.(?)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 0