### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SNAP25) # 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}}" "SNAP25" "synaptosomal-associated protein, 25kDa" "20" "p12-p11.2" "unknown" "NC_000020.10" "UD_136091821066" "" "https://www.LOVD.nl/SNAP25" "" "1" "11132" "6616" "600322" "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" "2023-10-23 15:56:04" "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}}" "00019494" "SNAP25" "transcript variant 2" "002" "NM_130811.2" "" "NP_570824.1" "" "" "" "-212" "1842" "621" "10199477" "10288066" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04668" "DEE117;CMS18" "encephalopathy, developmental and epileptic, type 117" "AD" "616330" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2025-09-30 18:07:24" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SNAP25" "04668" ## 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}}" "00303076" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat118" "00394356" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "AgS1" "00438703" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "M" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "French-Canadian" "HSJ0745" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00303076" "05521" "00394356" "04214" "00438703" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04214, 04668, 05521, 06906 ## 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}}" "0000230159" "05521" "00303076" "00006" "Isolated (sporadic)" "" "Epileptic Encephalopathy, infantile onset; age onset infantile" "" "" "" "" "" "" "" "" "seizures" "0000287560" "04214" "00394356" "00000" "Familial, autosomal dominant" "" "Increased pressure on optic nerve, electroretinogram consistent with Alstrom syndrome" "" "" "" "" "" "" "" "Alagille syndrome" "" "0000328606" "06906" "00438703" "00006" "Isolated (sporadic)" "23y" "see paper; ..., developmental delay, moderate intellectual disability; 18m-seizure; EEG gengeneralized spike-wave, continuous spike and wave during sleep; MRI brain mild diffuse cortical atrophy; apneas, bradycardia, severe constipation, minor dysmorphic traits, no seizures for 2 years on VPA" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" ## 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}}" "0000304201" "00303076" "1" "00006" "00006" "2020-06-05 14:49:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000395603" "00394356" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis" "0000440185" "00438703" "1" "00006" "00006" "2023-10-21 19:20:17" "00006" "2023-10-21 22:17:41" "SEQ;SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000304201" "SNAP25" "0000395603" "JAG1" ## 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 = 19 "{{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}}" "0000262472" "0" "50" "20" "10035120" "10035120" "subst" "6.78709E-5" "01943" "SNAP25-AS1_000002" "g.10035120C>A" "" "" "" "ANKEF1(NM_022096.4):c.2045C>A (p.(Ser682Ter)), ANKEF1(NM_022096.6):c.2045C>A (p.S682*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10054472C>A" "" "VUS" "" "0000569003" "0" "50" "20" "10030038" "10030038" "subst" "0" "01943" "SNAP25_000002" "g.10030038G>A" "" "" "" "ANKEF1(NM_022096.6):c.821G>A (p.G274E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10049390G>A" "" "VUS" "" "0000569004" "0" "50" "20" "10030704" "10030704" "subst" "2.44047E-5" "01804" "SNAP25_000003" "g.10030704T>A" "" "" "" "ANKEF1(NM_022096.4):c.1487T>A (p.(Ile496Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10050056T>A" "" "VUS" "" "0000569005" "0" "50" "20" "10035120" "10035120" "subst" "6.78709E-5" "01804" "SNAP25-AS1_000002" "g.10035120C>A" "" "" "" "ANKEF1(NM_022096.4):c.2045C>A (p.(Ser682Ter)), ANKEF1(NM_022096.6):c.2045C>A (p.S682*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10054472C>A" "" "VUS" "" "0000569006" "0" "50" "20" "10265384" "10265384" "subst" "0" "02327" "SNAP25_000004" "g.10265384G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10284736G>C" "" "VUS" "" "0000624118" "0" "50" "20" "10026226" "10026226" "subst" "0.000113817" "01943" "SNAP25_000005" "g.10026226T>C" "" "" "" "ANKEF1(NM_022096.6):c.701T>C (p.L234S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10045578T>C" "" "VUS" "" "0000667614" "0" "70" "20" "10265399" "10265399" "subst" "0" "00006" "SNAP25_000006" "g.10265399G>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.10284751G>T" "" "likely pathogenic (dominant)" "ACMG" "0000692929" "0" "50" "20" "10036204" "10036204" "subst" "0.000109855" "01943" "SNAP25_000007" "g.10036204C>T" "" "" "" "ANKEF1(NM_022096.6):c.2227C>T (p.R743*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809152" "0" "30" "20" "10030031" "10030031" "subst" "0.000468501" "01943" "SNAP25_000008" "g.10030031G>A" "" "" "" "ANKEF1(NM_022096.6):c.821-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809153" "0" "30" "20" "10030262" "10030262" "subst" "0.000109759" "01943" "SNAP25_000009" "g.10030262A>G" "" "" "" "ANKEF1(NM_022096.6):c.1045A>G (p.R349G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809154" "0" "50" "20" "10030776" "10030776" "subst" "0.000117968" "01943" "SNAP25_000010" "g.10030776T>C" "" "" "" "ANKEF1(NM_022096.6):c.1559T>C (p.M520T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809155" "0" "30" "20" "10033877" "10033877" "subst" "0" "01943" "SNAP25_000011" "g.10033877C>T" "" "" "" "ANKEF1(NM_022096.6):c.1988C>T (p.T663I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000826991" "0" "90" "20" "9200001" "17900000" "del" "0" "00000" "JAG1_000783" "g.9200001_17900000del" "" "{PMID:Thorsteinsson 2021:33851411}" "" "JAG1 del20p12.1-p12.2," "heterozygous" "Unknown" "?" "" "0" "" "" "g.9200001_17900000del" "" "pathogenic" "" "0000866377" "0" "50" "20" "10023889" "10023889" "subst" "0.000121875" "01943" "SNAP25_000012" "g.10023889G>A" "" "" "" "ANKEF1(NM_022096.6):c.466G>A (p.A156T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000936343" "0" "70" "20" "10280004" "10280004" "subst" "0" "00006" "SNAP25_000013" "g.10280004G>T" "" "{PMID:Hamdan 2017:29100083}" "" "NM_130811:c.G496T (D166Y)" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000970064" "0" "30" "20" "10256145" "10256145" "subst" "9.05133E-5" "02325" "SNAP25_000014" "g.10256145C>T" "" "" "" "SNAP25(NM_003081.5):c.6C>T (p.A2=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005250" "0" "50" "20" "10023961" "10023961" "subst" "2.84407E-5" "01804" "SNAP25_000015" "g.10023961A>G" "" "" "" "ANKEF1(NM_022096.4):c.538A>G (p.(Ile180Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005251" "0" "50" "20" "10026255" "10026255" "subst" "0.00114175" "01804" "SNAP25_000016" "g.10026255G>A" "" "" "" "ANKEF1(NM_022096.4):c.730G>A (p.(Val244Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043246" "0" "50" "20" "10256175" "10256175" "subst" "0" "01804" "SNAP25_000017" "g.10256175G>T" "" "" "" "SNAP25(NM_130811.4):c.36G>T (p.(Glu12Asp))" "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 SNAP25 ## Count = 19 "{{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}}" "0000262472" "00019494" "50" "-164569" "0" "-164569" "0" "c.-164569C>A" "r.(?)" "p.(=)" "" "0000569003" "00019494" "50" "-169651" "0" "-169651" "0" "c.-169651G>A" "r.(?)" "p.(=)" "" "0000569004" "00019494" "50" "-168985" "0" "-168985" "0" "c.-168985T>A" "r.(?)" "p.(=)" "" "0000569005" "00019494" "50" "-164569" "0" "-164569" "0" "c.-164569C>A" "r.(?)" "p.(=)" "" "0000569006" "00019494" "50" "127" "0" "127" "0" "c.127G>C" "r.(?)" "p.(Gly43Arg)" "" "0000624118" "00019494" "50" "-173463" "0" "-173463" "0" "c.-173463T>C" "r.(?)" "p.(=)" "" "0000667614" "00019494" "70" "142" "0" "142" "0" "c.142G>T" "r.(?)" "p.(Val48Phe)" "" "0000692929" "00019494" "50" "-163485" "0" "-163485" "0" "c.-163485C>T" "r.(?)" "p.(=)" "" "0000809152" "00019494" "30" "-169658" "0" "-169658" "0" "c.-169658G>A" "r.(?)" "p.(=)" "" "0000809153" "00019494" "30" "-169427" "0" "-169427" "0" "c.-169427A>G" "r.(?)" "p.(=)" "" "0000809154" "00019494" "50" "-168913" "0" "-168913" "0" "c.-168913T>C" "r.(?)" "p.(=)" "" "0000809155" "00019494" "30" "-165812" "0" "-165812" "0" "c.-165812C>T" "r.(?)" "p.(=)" "" "0000826991" "00019494" "90" "-999688" "0" "7613776" "0" "c.-999688_*7613155del" "r.0?" "p.0?" "" "0000866377" "00019494" "50" "-175800" "0" "-175800" "0" "c.-175800G>A" "r.(?)" "p.(=)" "" "0000936343" "00019494" "70" "496" "0" "496" "0" "c.496G>T" "r.(?)" "p.(Asp166Tyr)" "" "0000970064" "00019494" "30" "6" "0" "6" "0" "c.6C>T" "r.(?)" "p.(=)" "" "0001005250" "00019494" "50" "-175728" "0" "-175728" "0" "c.-175728A>G" "r.(?)" "p.(=)" "" "0001005251" "00019494" "50" "-173434" "0" "-173434" "0" "c.-173434G>A" "r.(?)" "p.(=)" "" "0001043246" "00019494" "50" "36" "0" "36" "0" "c.36G>T" "r.(?)" "p.(Glu12Asp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000304201" "0000667614" "0000395603" "0000826991" "0000440185" "0000936343"