### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ACBD5)
# 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}}"
"ACBD5" "acyl-CoA binding domain containing 5" "10" "p12.1" "unknown" "NG_032960.3" "UD_132319308037" "" "https://www.LOVD.nl/ACBD5" "" "1" "23338" "91452" "616618" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ACBD5_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-09-24 00:00:00" "00006" "2020-11-11 14:48:51" "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}}"
"00001952" "ACBD5" "transcript variant 1" "003" "NM_145698.3" "" "NP_663736.2" "" "" "" "-191" "3794" "1578" "27529808" "27484143" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 7
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00058" "CORD" "dystrophy, cone-rod (CORD)" "" "" "" "" "" "00006" "2012-09-22 11:31:25" "00006" "2020-08-30 09:43:59"
"00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"04213" "COD" "dystrophy, cone (COD)" "" "" "" "" "" "00006" "2015-02-27 19:22:18" "" ""
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"05773" "THC" "thrombocytopenia (THC)" "" "" "" "" "" "00006" "2020-06-14 16:20:41" "" ""
"05878" "RDLKD" "dystrophy, retinal, with leukodystrophy (RDLKD)" "AR" "618863" "" "" "" "00006" "2020-11-11 14:50:15" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"ACBD5" "05878"
## Individuals ## Do not remove or alter this header ##
## Count = 7
"{{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}}"
"00059796" "" "" "" "1" "" "00039" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "" "" "0" "" "" "" ""
"00081100" "" "" "" "1" "" "01763" "Haer-Wigman 2016" "" "?" "no" "" "" "0" "" "" "" ""
"00332335" "" "" "" "19" "" "00006" "{PMID:Punzo 2010:20626622}, {PMID:Pippucci 2011:21211618}" "4-generation family, 19 affected (9F, 10M)" "F;M" "no" "Italy" "" "0" "" "" "" "FamR/family"
"00332336" "" "" "" "4" "" "00006" "{PMID:Punzo 2010:20626622}" "family, 4 affected" "" "no" "Italy" "" "0" "" "" "" "FamK"
"00335081" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "no" "Netherlands" "" "0" "" "" "" "2245"
"00375429" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#023"
"00426107" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "M" "" "Oman" "" "0" "" "" "" "10DH12500"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 7
"{{individualid}}" "{{diseaseid}}"
"00059796" "00058"
"00081100" "04213"
"00332335" "05773"
"00332336" "05773"
"00335081" "00198"
"00375429" "04214"
"00426107" "00139"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00058, 00139, 00198, 04213, 04214, 05773, 05878
## Count = 7
"{{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}}"
"0000046288" "00058" "00059796" "00039" "Familial, autosomal recessive" "" "spastic paraparesis, white matter disease" "" "" "" "" "" "" "" "" "" "" ""
"0000060669" "00198" "00081100" "01763" "Unknown" "" "Cone-Rod dystrophy\r\nnystagmus" "" "10y" "" "" "" "" "" "" "" "" ""
"0000250522" "05773" "00332335" "00006" "Familial, autosomal dominant" "" "see paper; ...m" "" "" "" "" "" "" "" "" "THC2" "thrombocytopenia" ""
"0000250523" "05773" "00332336" "00006" "Familial, autosomal dominant" "" "see paper; ...m" "" "" "" "" "" "" "" "" "THC2" "thrombocytopenia" ""
"0000252796" "00198" "00335081" "00000" "Unknown" "" "10y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy, nystagmus" ""
"0000270643" "04214" "00375429" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000317257" "00139" "00426107" "00006" "Familial, autosomal recessive" "7y" "" "" "" "" "" "" "" "" "" "Retinal dystrophy with leukodystrophy" "intellectual disability" ""
## Screenings ## Do not remove or alter this header ##
## Count = 7
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000059783" "00059796" "1" "00039" "00039" "2012-10-02 14:59:13" "" "" "SEQ-NG-I" "DNA" "" ""
"0000081212" "00081100" "1" "01763" "01763" "2016-09-13 16:52:36" "" "" "SEQ-NG" "DNA" "" ""
"0000333556" "00332335" "1" "00006" "00006" "2021-02-17 15:28:53" "" "" "arraySNP;SEQ" "DNA" "" "32 genes candidate region"
"0000333557" "00332336" "1" "00006" "00006" "2021-02-17 15:28:53" "" "" "arraySNP;SEQ" "DNA" "" "32 genes candidate region"
"0000336310" "00335081" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000376626" "00375429" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES"
"0000427427" "00426107" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}" "{{geneid}}"
"0000059783" "ACBD5"
"0000333556" "ACBD5"
"0000333557" "ACBD5"
"0000336310" "ACBD5"
## 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 = 20
"{{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}}"
"0000090899" "3" "90" "10" "27499742" "27499742" "subst" "0" "00039" "ACBD5_000001" "g.27499742C>T" "" "{PMID:Abu-Safieh-2013:23105016}" "" "1205+1G>A" "" "Germline" "" "" "0" "" "" "g.27210813C>T" "" "pathogenic" ""
"0000129974" "1" "70" "10" "27512350" "27512350" "subst" "5.69342E-5" "01763" "ACBD5_000003" "g.27512350A>G" "" "" "" "" "" "Germline" "" "rs573943806" "0" "" "" "g.27223421A>G" "" "likely pathogenic" ""
"0000129975" "2" "90" "10" "27494138" "27494138" "del" "0" "01763" "ACBD5_000002" "g.27494138del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.27205209del" "" "pathogenic" ""
"0000261771" "0" "50" "10" "27508723" "27508723" "subst" "0" "01943" "ACBD5_000004" "g.27508723C>T" "" "" "" "ACBD5(NM_001271512.3):c.548G>A (p.S183N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27219794C>T" "" "VUS" ""
"0000350282" "0" "50" "10" "27512350" "27512350" "subst" "5.69342E-5" "02327" "ACBD5_000003" "g.27512350A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27223421A>G" "" "VUS" ""
"0000690712" "0" "30" "10" "27499917" "27499917" "subst" "0.000296468" "01943" "ACBD5_000005" "g.27499917C>T" "" "" "" "ACBD5(NM_001352579.1):c.925G>A (p.D309N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000690713" "0" "30" "10" "27512307" "27512307" "subst" "1.62563E-5" "01943" "ACBD5_000006" "g.27512307G>A" "" "" "" "ACBD5(NM_001352579.1):c.345C>T (p.V115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000722797" "0" "30" "10" "27497250" "27497250" "subst" "1.62487E-5" "01943" "ACBD5_000007" "g.27497250C>T" "" "" "" "ACBD5(NM_001352579.1):c.1224G>A (p.V408=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000731230" "1" "90" "10" "27529302" "27529302" "subst" "0" "00006" "ACBD5_000008" "g.27529302G>A" "" "{PMID:Punzo 2010:20626622}, {PMID:Pippucci 2011:21211618}" "" "22C>T (His8Tyr)" "pathogenicity reclassified by Pippucci" "Germline" "yes" "" "0" "" "" "" "" "VUS (!)" ""
"0000731231" "1" "90" "10" "27529302" "27529302" "subst" "0" "00006" "ACBD5_000008" "g.27529302G>A" "" "{PMID:Punzo 2010:20626622}, {PMID:Pippucci 2011:21211618}" "" "22C>T (His8Tyr)" "pathogenicity questioned by Pippucci" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (!)" ""
"0000735585" "1" "90" "10" "27512350" "27512350" "subst" "5.69342E-5" "00000" "ACBD5_000003" "g.27512350A>G" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.27223421A>G" "" "pathogenic" ""
"0000735712" "2" "90" "10" "27494138" "27494138" "del" "0" "00000" "ACBD5_000002" "g.27494138del" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.27205209del" "" "pathogenic" ""
"0000788480" "0" "50" "10" "27493409" "27493409" "subst" "4.06223E-6" "00000" "ACBD5_000009" "g.27493409C>A" "" "{PMID:Katagiri 2014:25268133}" "" "G1525T" "" "Germline" "" "" "0" "" "" "g.27204480C>A" "" "VUS" ""
"0000804405" "0" "90" "10" "27512166" "27512166" "subst" "0" "01943" "ACBD5_000010" "g.27512166G>A" "" "" "" "ACBD5(NM_001352571.1):c.487C>T (p.R163*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000889119" "0" "30" "10" "27494157" "27494157" "subst" "4.06329E-6" "02330" "ACBD5_000011" "g.27494157T>A" "" "" "" "ACBD5(NM_001352579.2):c.1320A>T (p.T440=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000904787" "3" "70" "10" "27504463" "27507113" "del" "0" "00006" "ACBD5_000012" "g.(27500011_27504463)_(27507113_27508651)del" "" "{PMID:Al-Kasbi 2022:36344539}" "" "del ex7-8" "" "Germline" "" "" "0" "" "" "g.(27211082_27215534)_(27218184_27219722)del" "" "likely pathogenic (recessive)" ""
"0000913275" "0" "30" "10" "27497352" "27497352" "subst" "0.000199011" "02326" "ACBD5_000013" "g.27497352G>A" "" "" "" "ACBD5(NM_145698.4):c.1227C>T (p.S409=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000949383" "0" "30" "10" "27529313" "27529313" "subst" "0.00313538" "02330" "ACBD5_000014" "g.27529313G>A" "" "" "" "ACBD5(NM_001352579.2):c.11C>T (p.T4M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001014614" "0" "30" "10" "27529279" "27529279" "subst" "0.000434599" "02330" "ACBD5_000015" "g.27529279G>C" "" "" "" "ACBD5(NM_001352579.2):c.45C>G (p.A15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001037870" "0" "30" "10" "27512175" "27512175" "subst" "0" "01804" "ACBD5_000016" "g.27512175C>T" "" "" "" "ACBD5(NM_001352568.1):c.512-7G>A" "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 ACBD5
## Count = 20
"{{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}}"
"0000090899" "00001952" "90" "1204" "1" "1204" "1" "c.1204+1G>A" "r.spl" "p.?" "9i"
"0000129974" "00001952" "70" "407" "0" "407" "0" "c.407T>C" "r.(?)" "p.(Val136Ala)" "5"
"0000129975" "00001952" "90" "1446" "0" "1446" "0" "c.1446del" "r.(?)" "p.(Thr483fs)" "11"
"0000261771" "00001952" "50" "554" "0" "554" "0" "c.554G>A" "r.(?)" "p.(Ser185Asn)" ""
"0000350282" "00001952" "50" "407" "0" "407" "0" "c.407T>C" "r.(?)" "p.(Val136Ala)" ""
"0000690712" "00001952" "30" "1030" "0" "1030" "0" "c.1030G>A" "r.(?)" "p.(Asp344Asn)" ""
"0000690713" "00001952" "30" "450" "0" "450" "0" "c.450C>T" "r.(?)" "p.(Val150=)" ""
"0000722797" "00001952" "30" "1329" "0" "1329" "0" "c.1329G>A" "r.(?)" "p.(Val443=)" ""
"0000731230" "00001952" "90" "127" "0" "127" "0" "c.127C>T" "r.(?)" "p.(His43Tyr)" ""
"0000731231" "00001952" "90" "127" "0" "127" "0" "c.127C>T" "r.(?)" "p.(His43Tyr)" ""
"0000735585" "00001952" "90" "407" "0" "407" "0" "c.407T>C" "r.(?)" "p.(Val136Ala)" ""
"0000735712" "00001952" "90" "1446" "0" "1446" "0" "c.1446del" "r.(?)" "p.(Thr483Profs*17)" ""
"0000788480" "00001952" "50" "1525" "0" "1525" "0" "c.1525G>T" "r.(?)" "p.(Ala509Ser)" "12"
"0000804405" "00001952" "90" "490" "101" "490" "101" "c.490+101C>T" "r.(=)" "p.(=)" ""
"0000889119" "00001952" "30" "1425" "0" "1425" "0" "c.1425A>T" "r.(?)" "p.(Thr475=)" ""
"0000904787" "00001952" "70" "626" "-1" "936" "1" "c.(625+1_626-1)_(936+1_937-1)del" "r.?" "p.?" "6i_8i"
"0000913275" "00001952" "30" "1227" "0" "1227" "0" "c.1227C>T" "r.(?)" "p.(Ser409=)" ""
"0000949383" "00001952" "30" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Thr39Met)" ""
"0001014614" "00001952" "30" "150" "0" "150" "0" "c.150C>G" "r.(?)" "p.(=)" ""
"0001037870" "00001952" "30" "490" "92" "490" "92" "c.490+92G>A" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 9
"{{screeningid}}" "{{variantid}}"
"0000059783" "0000090899"
"0000081212" "0000129974"
"0000081212" "0000129975"
"0000333556" "0000731230"
"0000333557" "0000731231"
"0000336310" "0000735585"
"0000336310" "0000735712"
"0000376626" "0000788480"
"0000427427" "0000904787"