### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACTL6A) # 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}}" "ACTL6A" "actin-like 6A" "3" "q26.33" "unknown" "NC_000003.11" "UD_136023234892" "" "https://www.LOVD.nl/ACTL6A" "" "1" "24124" "86" "604958" "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" "2023-04-07 12:16:37" "00000" "2025-07-08 13:22:38" ## 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}}" "00002021" "ACTL6A" "transcript variant 1" "002" "NM_004301.3" "" "NP_004292.1" "" "" "" "-173" "1685" "1290" "179280708" "179306193" "" "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 = 0 ## 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}}" "00434784" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "PatN1" "00434785" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "PatN3" "00434786" "" "" "" "1" "" "00006" "{PMID:Marom 2017:28649782}, {PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "PatN2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00434784" "05611" "00434785" "05611" "00434786" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611 ## Count = 0 ## 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}}" "0000436256" "00434784" "1" "00006" "00006" "2023-04-07 12:18:59" "" "" "SEQ" "DNA" "" "WES" "0000436257" "00434785" "1" "00006" "00006" "2023-04-07 12:22:01" "" "" "SEQ-NG" "DNA" "" "WES" "0000436258" "00434786" "1" "00006" "00006" "2023-04-07 12:25:02" "" "" "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 = 9 "{{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}}" "0000337372" "0" "70" "3" "179304421" "179304421" "subst" "0" "02327" "ACTL6A_000001" "g.179304421G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179586633G>C" "" "likely pathogenic" "" "0000801085" "0" "30" "3" "179287926" "179287926" "subst" "4.06121E-6" "02325" "ACTL6A_000002" "g.179287926C>T" "" "" "" "ACTL6A(NM_004301.5):c.174C>T (p.G58=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885642" "0" "30" "3" "179294421" "179294421" "subst" "4.06871E-6" "02325" "ACTL6A_000003" "g.179294421C>T" "" "" "" "ACTL6A(NM_004301.5):c.585C>T (p.S195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911865" "0" "50" "3" "179291189" "179291189" "subst" "0" "02327" "ACTL6A_000004" "g.179291189G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000922616" "0" "70" "3" "179291256" "179291256" "subst" "0" "00006" "ACTL6A_000005" "g.179291256C>T" "" "{PMID:Chen 2022:34906496}" "" "" "candidate disease gene" "De novo" "" "" "0" "" "" "g.179573468C>T" "" "likely pathogenic (!)" "" "0000922617" "0" "70" "3" "179304376" "179304376" "subst" "0" "00006" "ACTL6A_000006" "g.179304376C>T" "" "{PMID:Chen 2022:34906496}" "" "" "candidate disease gene" "De novo" "" "" "0" "" "" "g.179586588C>T" "" "likely pathogenic (!)" "" "0000922618" "0" "70" "3" "179304340" "179304340" "subst" "0" "00006" "ACTL6A_000007" "g.179304340C>T" "" "{PMID:Marom 2017:28649782}, {PMID:Chen 2022:34906496}" "" "" "candidate disease gene" "De novo" "" "" "0" "" "" "g.179586552C>T" "" "likely pathogenic (!)" "" "0000975666" "0" "50" "3" "179292210" "179292210" "subst" "0" "01804" "ACTL6A_000008" "g.179292210A>G" "" "" "" "ACTL6A(NM_004301.5):c.431A>G (p.(Tyr144Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045889" "0" "50" "3" "179287647" "179287647" "subst" "0.000304569" "02325" "ACTL6A_000009" "g.179287647T>C" "" "" "" "ACTL6A(NM_004301.5):c.61T>C (p.Y21H)" "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 ACTL6A ## Count = 9 "{{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}}" "0000337372" "00002021" "70" "1209" "1" "1209" "1" "c.1209+1G>C" "r.spl?" "p.?" "" "0000801085" "00002021" "30" "174" "0" "174" "0" "c.174C>T" "r.(?)" "p.(Gly58=)" "" "0000885642" "00002021" "30" "585" "0" "585" "0" "c.585C>T" "r.(?)" "p.(Ser195=)" "" "0000911865" "00002021" "50" "310" "0" "310" "0" "c.310G>T" "r.(?)" "p.(Asp104Tyr)" "" "0000922616" "00002021" "70" "377" "0" "377" "0" "c.377C>T" "r.(?)" "p.(Pro126Leu)" "4" "0000922617" "00002021" "70" "1165" "0" "1165" "0" "c.1165C>T" "r.(?)" "p.(Arg389Trp)" "13" "0000922618" "00002021" "70" "1129" "0" "1129" "0" "c.1129C>T" "r.(?)" "p.(Arg377Trp)" "13" "0000975666" "00002021" "50" "431" "0" "431" "0" "c.431A>G" "r.(?)" "p.(Tyr144Cys)" "" "0001045889" "00002021" "50" "61" "0" "61" "0" "c.61T>C" "r.(?)" "p.(Tyr21His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000436256" "0000922616" "0000436257" "0000922617" "0000436258" "0000922618"