### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AP5M1) # 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}}" "AP5M1" "adaptor-related protein complex 5, mu 1 subunit" "14" "q22.2" "unknown" "NC_000014.8" "UD_136085585629" "" "http://www.LOVD.nl/AP5M1" "" "1" "20192" "55745" "614368" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-04-09 09:22:24" "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}}" "00002650" "AP5M1" "transcript variant 1" "001" "NM_018229.3" "" "NP_060699.3" "" "" "" "-427" "2668" "1473" "57735606" "57756797" "" "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}}" "04249" "macular dystrophy" "dystrophy, macular" "" "" "" "" "" "00006" "2015-05-04 22:10:58" "00006" "2024-02-15 21:18:39" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "AP5M1" "04249" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00464726" "" "" "" "1" "" "00006" "{PMID:Kaminska 2025:40081374}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Switzerland" "" "0" "" "" "" "Fam15Pat18" "00464727" "" "" "" "1" "" "00006" "{PMID:Kaminska 2025:40081374}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Belgium" "" "0" "" "" "" "Fam16Pat19" "00464728" "" "" "" "1" "" "00006" "{PMID:Kaminska 2025:40081374}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Germany" "" "0" "" "" "" "Fam17Pat20" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00464726" "04249" "00464727" "04249" "00464728" "04249" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04249 ## Count = 3 "{{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}}" "0000350711" "04249" "00464726" "00006" "Familial, autosomal recessive" "46y" "macular dystrophy; reduced central vision; maculopathy with atrophy and deposits; mild intellectual disability" "30y" "" "reduced central vision" "" "" "" "" "" "macular dystrophy" "0000350712" "04249" "00464727" "00006" "Familial, autosomal recessive" "59y" "macular dystrophy; Parkinson symptoms; extensive central chorioretinal atrophy; parkinsonism; type 2 diabetes; ischemic stroke" "46y" "" "Parkinson symptoms" "" "" "" "" "" "macular dystrophy" "0000350713" "04249" "00464728" "00006" "Familial, autosomal recessive" "63y" "macular dystrophy; central vision loss; extensive central chorioretinal atrophy; no neurological symptoms; myocardial infarction; multiple allergies; chronic anal fistulas" "56y" "" "central vision loss" "" "" "" "" "" "macular dystrophy" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000466374" "00464726" "1" "00006" "00006" "2025-04-14 14:18:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466375" "00464727" "1" "00006" "00006" "2025-04-14 14:18:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466376" "00464728" "1" "00006" "00006" "2025-04-14 14:18:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## 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 = 7 "{{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}}" "0000323695" "0" "50" "14" "57710971" "57710971" "subst" "0.000110348" "01804" "EXOC5_000001" "g.57710971C>T" "" "" "" "EXOC5(NM_006544.3):c.377G>A (p.(Arg126Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57244253C>T" "" "VUS" "" "0000323696" "0" "50" "14" "57711016" "57711016" "subst" "0" "01804" "EXOC5_000002" "g.57711016C>G" "" "" "" "EXOC5(NM_006544.3):c.332G>C (p.(Cys111Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57244298C>G" "" "VUS" "" "0000679992" "0" "50" "14" "57706331" "57706331" "del" "0" "01804" "AP5M1_000002" "g.57706331del" "" "" "" "EXOC5(NM_006544.3):c.513del (p.(Glu172Serfs*21))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030343" "3" "70" "14" "57740984" "57740984" "subst" "8.20728E-6" "00006" "AP5M1_000003" "g.57740984C>T" "" "{PMID:Kaminska 2025:40081374}" "" "" "ACMG PVS1_vstrong, PM2_mod" "Germline" "" "" "0" "" "" "g.57274266C>T" "" "likely pathogenic (recessive)" "" "0001030344" "3" "70" "14" "57749729" "57749729" "subst" "0" "00006" "AP5M1_000005" "g.57749729G>A" "" "{PMID:Kaminska 2025:40081374}" "" "" "ACMG PVS1_vstrong, PM2_mod" "Germline" "" "" "0" "" "" "g.57283011G>A" "" "likely pathogenic (recessive)" "" "0001030345" "3" "50" "14" "57747130" "57747130" "subst" "4.06243E-6" "00006" "AP5M1_000004" "g.57747130A>G" "" "{PMID:Kaminska 2025:40081374}" "" "" "ACMG PM2_mod, PP3_mod" "Germline" "" "" "0" "" "" "g.57280412A>G" "" "VUS" "" "0001040015" "0" "30" "14" "57740964" "57740964" "subst" "0.00115068" "01804" "AP5M1_000006" "g.57740964G>A" "" "" "" "AP5M1(NM_018229.4):c.77G>A (p.(Arg26Gln))" "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 AP5M1 ## Count = 7 "{{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}}" "0000323695" "00002650" "50" "-25062" "0" "-25062" "0" "c.-25062C>T" "r.(?)" "p.(=)" "" "0000323696" "00002650" "50" "-25017" "0" "-25017" "0" "c.-25017C>G" "r.(?)" "p.(=)" "" "0000679992" "00002650" "50" "-29702" "0" "-29702" "0" "c.-29702del" "r.(?)" "p.(=)" "" "0001030343" "00002650" "70" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(Arg33Ter)" "" "0001030344" "00002650" "70" "1166" "0" "1166" "0" "c.1166G>A" "r.(?)" "p.(Trp389Ter)" "" "0001030345" "00002650" "50" "938" "0" "938" "0" "c.938A>G" "r.(?)" "p.(Tyr313Cys)" "" "0001040015" "00002650" "30" "77" "0" "77" "0" "c.77G>A" "r.(?)" "p.(Arg26Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000466374" "0001030343" "0000466375" "0001030344" "0000466376" "0001030345"