### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ATG12) # 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}}" "ATG12" "autophagy related 12" "5" "q21-q22" "unknown" "NC_000005.9" "UD_136085686586" "" "https://www.LOVD.nl/ATG12" "" "1" "588" "9140" "609608" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/ATG12_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2026-05-12 20:44:37" "00006" "2026-05-12 21:44:35" ## 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}}" "00003041" "ATG12" "transcript variant 1" "001" "NM_004707.3" "" "NP_004698.3" "" "" "" "-299" "4031" "423" "115177548" "115163893" "" "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}}" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ATG12" "05611" ## 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}}" "00479802" "" "" "" "2" "" "00006" "{PMID:Lambton 2026:41895291}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "12m" "0" "" "" "Europe" "FamPat1" "00479803" "" "" "00479802" "1" "" "00006" "{PMID:Lambton 2026:41895291}" "brother" "M" "" "" "6m" "0" "" "" "Europe" "FamPat2" "00479804" "" "" "" "1" "" "00006" "{PMID:Lambton 2026:41895291}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "Middle East" "Pat3" "00479805" "" "" "" "1" "" "00006" "{PMID:Lambton 2026:41895291}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "India" "" "0" "" "" "" "Pat4" "00479806" "" "" "" "1" "" "00006" "{PMID:Lambton 2026:41895291}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "5y" "0" "" "" "" "Pat5" "00479807" "" "" "" "1" "" "00006" "{PMID:Lambton 2026:41895291}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "2y6m" "0" "" "" "" "Pat6" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00479802" "05611" "00479803" "05611" "00479804" "05611" "00479805" "05611" "00479806" "05611" "00479807" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611 ## Count = 6 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000364317" "05611" "00479802" "00006" "Familial, autosomal recessive" "12m" "see paper; ..., 12m-deceased; developmental delay; intellectual disability, epileptic encephalopathy; seizures, infantile spasms; hypoplasia corpus callosum; cerebellar (vermian) hypoplasia; reduced white/grey matter" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364318" "05611" "00479803" "00006" "Familial, autosomal recessive" "4m" "see paper; ..., 6m-deceased; developmental delay; intellectual disability, epileptic encephalopathy; seizures; hypoplasia corpus callosum; cerebellar (vermian) hypoplasia; deep sulcation occipital lobe; no optic atrophy" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364319" "05611" "00479804" "00006" "Familial, autosomal recessive" "17y" "see paper; ..., ataxia, walks with support; developmental delay; intellectual disability; seizures; no hypoplasia corpus callosum; cerebellar (vermian) hypoplasia; polymicrogyria (widespread); sensorineural deafness; optic atrophy; end-stage kidney disease" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364320" "05611" "00479805" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., non-ambulant; developmental delay; intellectual disability; seizures, infantile spasms; hypoplasia corpus callosum; cerebellar (vermian) hypoplasia; microcephaly with brachycephaly atrophy, cerebellocerebral atrophy, thinning pons, brainstem. hypomyelination; optic atrophy" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364321" "05611" "00479806" "00006" "Familial, autosomal recessive" "4y6m" "see paper; ..., 5y-deceased; developmental delay; intellectual disability, epileptic encephalopathy; seizures; hypoplasia corpus callosum (body thin and absent posteriorly); cerebellar (vermian) hypoplasia; prominent cavum septum pellucidum, small cerebellar hemispheres, small posterior fossa; no kidney disease" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364322" "05611" "00479807" "00006" "Familial, autosomal recessive" "7m" "see paper; ..., 2y6m-deceased; never walked; developmental delay; intellectual disability; seizures; no optic atrophy, vernal keratoconjunctivitis with bilateral pseudogerontoxon; no kidney disease" "" "" "" "" "" "" "neurodevelopmental disorder" ## 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}}" "0000481449" "00479802" "1" "00006" "00006" "2026-05-12 21:44:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000481450" "00479803" "1" "00006" "00006" "2026-05-12 21:44:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000481451" "00479804" "1" "00006" "00006" "2026-05-12 21:44:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000481452" "00479805" "1" "00006" "00006" "2026-05-12 21:44:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000481453" "00479806" "1" "00006" "00006" "2026-05-12 21:44:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000481454" "00479807" "1" "00006" "00006" "2026-05-12 21:44:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## 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 = 11 "{{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}}" "0000261130" "0" "10" "5" "115177207" "115177207" "subst" "0.0174185" "02326" "ATG12_000001" "g.115177207T>C" "" "" "" "ATG12(NM_004707.4):c.43A>G (p.I15V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.115841510T>C" "" "benign" "" "0001052056" "0" "50" "5" "115202418" "115202418" "subst" "0" "01804" "AP3S1_000003" "g.115202418A>G" "" "" "" "AP3S1(NM_001284.4):c.121A>G (p.(Lys41Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001077936" "11" "70" "5" "115168303" "115168303" "subst" "5.82839E-6" "00006" "ATG12_000004" "g.115168303T>G" "" "{PMID:Lambton 2026:41895291}" "" "" "" "Germline" "yes" "" "0" "" "" ":g.115832606T>G" "" "likely pathogenic (recessive)" "" "0001077937" "11" "70" "5" "115168303" "115168303" "subst" "5.82839E-6" "00006" "ATG12_000004" "g.115168303T>G" "" "{PMID:Lambton 2026:41895291}" "" "" "" "Germline" "yes" "" "0" "" "" ":g.115832606T>G" "" "likely pathogenic (recessive)" "" "0001077938" "3" "70" "5" "115167511" "115167511" "subst" "1.63514E-5" "00006" "ATG12_000002" "g.115167511G>A" "" "{PMID:Lambton 2026:41895291}" "" "" "" "Germline" "" "" "0" "" "" ":g.115831814G>A" "" "likely pathogenic (recessive)" "" "0001077939" "3" "70" "5" "115168303" "115168303" "subst" "5.82839E-6" "00006" "ATG12_000004" "g.115168303T>G" "" "{PMID:Lambton 2026:41895291}" "" "" "" "Germline" "" "" "0" "" "" ":g.115832606T>G" "" "likely pathogenic (recessive)" "" "0001077940" "1" "70" "5" "115168303" "115168303" "subst" "5.82839E-6" "00006" "ATG12_000004" "g.115168303T>G" "" "{PMID:Lambton 2026:41895291}" "" "" "" "Germline" "" "" "0" "" "" ":g.115832606T>G" "" "likely pathogenic (recessive)" "" "0001077941" "3" "70" "5" "115168338" "115168338" "subst" "0" "00006" "ATG12_000005" "g.115168338A>C" "" "{PMID:Lambton 2026:41895291}" "" "" "" "Germline" "" "" "0" "" "" ":g.115832641A>C" "" "likely pathogenic (recessive)" "" "0001077942" "21" "70" "5" "115168296" "115168296" "subst" "0.000284059" "00006" "ATG12_000003" "g.115168296T>A" "" "{PMID:Lambton 2026:41895291}" "" "" "" "Germline" "yes" "" "0" "" "" ":g.115832599T>A" "" "likely pathogenic (recessive)" "" "0001077943" "21" "70" "5" "115168296" "115168296" "subst" "0.000284059" "00006" "ATG12_000003" "g.115168296T>A" "" "{PMID:Lambton 2026:41895291}" "" "" "" "Germline" "yes" "" "0" "" "" ":g.115832599T>A" "" "likely pathogenic (recessive)" "" "0001077944" "2" "70" "5" "115173390" "115173390" "subst" "2.43978E-5" "00006" "ATG12_000006" "g.115173390G>A" "" "{PMID:Lambton 2026:41895291}" "" "" "" "Germline" "" "" "0" "" "" ":g.115837693G>A" "" "likely pathogenic (recessive)" "" ## 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 ATG12 ## Count = 11 "{{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}}" "0000261130" "00003041" "10" "43" "0" "43" "0" "c.43A>G" "r.(?)" "p.(Ile15Val)" "" "0001052056" "00003041" "50" "-25169" "0" "-25169" "0" "c.-25169T>C" "r.(?)" "p.(=)" "" "0001077936" "00003041" "70" "359" "0" "359" "0" "c.359A>C" "r.(?)" "p.(Tyr120Ser)" "" "0001077937" "00003041" "70" "359" "0" "359" "0" "c.359A>C" "r.(?)" "p.(Tyr120Ser)" "" "0001077938" "00003041" "70" "413" "0" "413" "0" "c.413C>T" "r.(?)" "p.(Ala138Val)" "" "0001077939" "00003041" "70" "359" "0" "359" "0" "c.359A>C" "r.(?)" "p.(Tyr120Ser)" "" "0001077940" "00003041" "70" "359" "0" "359" "0" "c.359A>C" "r.(?)" "p.(Tyr120Ser)" "" "0001077941" "00003041" "70" "324" "0" "324" "0" "c.324T>G" "r.(?)" "p.(Phe108Leu)" "" "0001077942" "00003041" "70" "363" "3" "363" "3" "c.363+3A>T" "r.[301_363del,=]" "p.[Phe101_Glu121del,=]" "" "0001077943" "00003041" "70" "363" "3" "363" "3" "c.363+3A>T" "r.[301_363del,=]" "p.[Phe101_Glu121del,=]" "" "0001077944" "00003041" "70" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000481449" "0001077936" "0000481449" "0001077942" "0000481450" "0001077937" "0000481450" "0001077943" "0000481451" "0001077938" "0000481452" "0001077939" "0000481453" "0001077940" "0000481453" "0001077944" "0000481454" "0001077941"