### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = VAMP2) # 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}}" "VAMP2" "vesicle-associated membrane protein 2 (synaptobrevin 2)" "17" "pter-p12" "unknown" "NC_000017.10" "UD_132438812924" "" "https://www.LOVD.nl/VAMP2" "" "1" "12643" "6844" "185881" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/VAMP2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-10-11 14:57:42" "00000" "2025-11-01 13:22:20" ## 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}}" "00022546" "VAMP2" "vesicle-associated membrane protein 2 (synaptobrevin 2)" "001" "NM_014232.2" "" "NP_055047.2" "" "" "" "-96" "2059" "351" "8066293" "8062465" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05776" "NEDHAHM" "neurodevelopmental disorder, hypotonia and autistic features with/without hyperkinetic movements (NEDHAHM)" "AD" "618760" "" "" "" "00006" "2020-06-17 09:53:03" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "VAMP2" "05776" ## 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}}" "00181522" "" "" "" "1" "" "02190" "{PMID:Salpietro 2019:30929742}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat1" "00181523" "" "" "" "1" "" "02190" "{PMID:Salpietro 2019:30929742}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat2" "00181524" "" "" "" "1" "" "02190" "{PMID:Salpietro 2019:30929742}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat3" "00181525" "" "" "" "1" "" "02190" "{PMID:Salpietro 2019:30929742}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat4" "00181526" "" "" "" "1" "" "02190" "{PMID:Salpietro 2019:30929742}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat5" "00464334" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "321406" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00181522" "05162" "00181523" "05162" "00181524" "05162" "00181525" "05162" "00181526" "05162" "00464334" "05776" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05162, 05776 ## Count = 6 "{{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}}" "0000143711" "05162" "00181522" "02190" "Isolated (sporadic)" "03y" "normal growth, normal OFC; hypotonia, developmental delay; severe intellectual disability; no epileptic seizures; EEG-high-voltage delta activity, sharp wave-slow wave complexes; autism spectrum disorder; RTT-like features stereotyped hand movements, absent purposeful hand movements; choreic movement, flapping, dystonic postures; central visual defects; no speech; MRI brain thin corpus callosum, delayed myelination; inability to walk" "" "" "" "" "" "" "" "NEDHAHM" "developmental delay" "0000143712" "05162" "00181523" "02190" "Familial, autosomal dominant" "10y" "normal growth, normal OFC; hypotonia, developmental delay; severe intellectual disability; focal seizures, generalized tonic-clonic seizures; EEG-fast rhythmic activity, sharp wave-slow wave complexes; autism spectrum disorder; RTT-like features body rocking, head banging, screaming, absent purposeful hand movements; generalized chorea; central visual defects; no speech; MRI brain unremarkable; abnormal behavior, self-injury, inability to walk" "" "" "" "" "" "" "" "NEDHAHM" "developmental delay" "0000143713" "05162" "00181524" "02190" "Familial, autosomal dominant" "13y" "normal growth, normal OFC; hypotonia, developmental delay; severe intellectual disability; infantile spasms, convulsive status epilepticus; EEG-disorganized paroxysms; autism spectrum disorder; RTT-like features stereotyped hand movements, absent purposeful hand movements; choreic movement, myoclonic jerks; central visual defects; no speech; MRI brain unremarkable; abnormal behavior, inability to walk, severe constipation" "" "" "" "" "" "" "" "NEDHAHM" "developmental delay" "0000143714" "05162" "00181525" "02190" "Familial, autosomal dominant" "14y" "normal growth, normal OFC; hypotonia, developmental delay; severe intellectual disability; focal seizures; EEG-generalized and multifocal abnormalities; autism spectrum disorder; RTT-like features stereotyped hand movements (wringing), absent purposeful hand movements; no movement disorder; no central visual defects; speech only 5–10 spoken words; MRI brain unremarkable; clumsiness, abnormal behavior" "" "" "" "" "" "" "" "" "NEDHAHM" "0000143715" "05162" "00181526" "02190" "Familial, autosomal dominant" "03y" "normal growth, normal OFC; hypotonia, developmental delay; moderate intellectual disability; no epileptic seizures; EEG-disorganized paroxysms; autism spectrum disorder; RTT-like features stereotyped hand movements (washing); no movement disorder; no central visual defects; speech only 5 words; MRI brain unremarkable; abnormal behavior" "" "" "" "" "" "" "" "NEDHAHM" "developmental delay" "0000350381" "05776" "00464334" "01164" "Isolated (sporadic)" "14y" "Neurodevelopmental delay, Intellectual disability" "" "" "" "" "" "" "" "" "" ## 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}}" "0000182482" "00181522" "1" "02190" "02190" "2018-10-10 15:22:35" "" "" "SEQ-NG" "DNA" "" "" "0000182483" "00181523" "1" "02190" "02190" "2018-10-10 15:31:43" "" "" "SEQ-NG" "DNA" "" "" "0000182484" "00181524" "1" "02190" "02190" "2018-10-10 15:34:56" "" "" "SEQ-NG" "DNA" "" "" "0000182485" "00181525" "1" "02190" "02190" "2018-10-10 15:37:41" "" "" "SEQ-NG" "DNA" "" "" "0000182486" "00181526" "1" "02190" "02190" "2018-10-10 15:39:51" "" "" "SEQ-NG" "DNA" "" "" "0000465965" "00464334" "1" "01164" "01164" "2025-03-05 15:53:59" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000465965" "VAMP2" ## 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 = 15 "{{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}}" "0000406373" "0" "90" "17" "8064985" "8064985" "subst" "0" "02190" "VAMP2_000002" "g.8064985A>G" "" "{PMID:Salpietro 2019:30929742}" "" "" "" "De novo" "" "" "0" "" "" "g.8161667A>G" "" "pathogenic (dominant)" "" "0000406374" "0" "90" "17" "8064975" "8064975" "subst" "0" "02190" "VAMP2_000003" "g.8064975T>G" "" "{PMID:Salpietro 2019:30929742}" "" "" "" "De novo" "" "" "0" "" "" "g.8161657T>G" "" "pathogenic (dominant)" "" "0000406375" "0" "90" "17" "8064978" "8064978" "subst" "0" "02190" "VAMP2_000004" "g.8064978A>G" "" "{PMID:Salpietro 2019:30929742}" "" "" "" "De novo" "" "" "0" "" "" "g.8161660A>G" "" "pathogenic (dominant)" "" "0000406376" "0" "90" "17" "8065083" "8065085" "del" "0" "02190" "VAMP2_000005" "g.8065083_8065085del" "" "{PMID:Salpietro 2019:30929742}" "" "128_130delTGG" "" "De novo" "" "" "0" "" "" "g.8161765_8161767del" "" "pathogenic (dominant)" "" "0000406377" "0" "90" "17" "8065074" "8065076" "del" "0" "02190" "VAMP2_000006" "g.8065074_8065076del" "" "{PMID:Salpietro 2019:30929742}" "" "199G>C, 135_137delCAT" "" "De novo" "" "" "0" "" "" "g.8161756_8161758del" "" "pathogenic (dominant)" "" "0000563775" "0" "50" "17" "8064794" "8064805" "del" "0" "02327" "VAMP2_000007" "g.8064794_8064805del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8161476_8161487del" "" "VUS" "" "0000726790" "0" "50" "17" "8064190" "8064190" "subst" "0" "02329" "VAMP2_000001" "g.8064190C>T" "" "" "" "VAMP2(NM_014232.3):c.335-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915000" "0" "70" "17" "8065085" "8065085" "subst" "0" "02327" "VAMP2_000008" "g.8065085C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000915001" "0" "30" "17" "8065608" "8065608" "subst" "0.000656376" "02325" "VAMP2_000009" "g.8065608T>C" "" "" "" "VAMP2(NM_014232.3):c.82A>G (p.S28G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003874" "0" "30" "17" "8064797" "8064797" "subst" "3.65539E-5" "01804" "VAMP2_000010" "g.8064797T>G" "" "" "" "VAMP2(NM_014232.2):c.328A>C (p.(Ile110Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003875" "0" "50" "17" "8064802" "8064802" "subst" "0" "01804" "VAMP2_000011" "g.8064802A>C" "" "" "" "VAMP2(NM_014232.2):c.323T>G (p.(Ile108Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003876" "0" "30" "17" "8064815" "8064815" "subst" "0" "01804" "VAMP2_000012" "g.8064815C>T" "" "" "" "VAMP2(NM_014232.2):c.310G>A (p.(Ala104Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001029768" "0" "90" "17" "8065042" "8065042" "subst" "0" "01164" "VAMP2_000013" "g.8065042G>A" "" "" "" "" "ACMG: PVS1, PS2_SUP, PM2_SUP" "Germline" "?" "" "" "" "" "g.8161724G>A" "VCV000929460.1" "pathogenic (dominant)" "ACMG" "0001042299" "0" "30" "17" "8065861" "8065861" "subst" "0" "01804" "VAMP2_000014" "g.8065861C>A" "" "" "" "VAMP2(NM_001330125.1):c.-92G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055833" "0" "70" "17" "8065020" "8065020" "subst" "0" "02327" "VAMP2_000015" "g.8065020A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 VAMP2 ## Count = 15 "{{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}}" "0000406373" "00022546" "90" "223" "0" "223" "0" "c.223T>C" "r.(?)" "p.(Ser75Pro)" "" "0000406374" "00022546" "90" "233" "0" "233" "0" "c.233A>C" "r.(?)" "p.(Glu78Ala)" "" "0000406375" "00022546" "90" "230" "0" "230" "0" "c.230T>C" "r.(?)" "p.(Phe77Ser)" "" "0000406376" "00022546" "90" "128" "0" "130" "0" "c.128_130del" "r.(?)" "p.(Val43del)" "" "0000406377" "00022546" "90" "135" "0" "137" "0" "c.135_137del" "r.(?)" "p.(Ile45del)" "" "0000563775" "00022546" "50" "321" "0" "332" "0" "c.321_332del" "r.(?)" "p.(Ile108_Ile111del)" "" "0000726790" "00022546" "50" "335" "-1" "335" "-1" "c.335-1G>A" "r.spl?" "p.?" "" "0000915000" "00022546" "70" "124" "-1" "124" "-1" "c.124-1G>C" "r.spl?" "p.?" "" "0000915001" "00022546" "30" "82" "0" "82" "0" "c.82A>G" "r.(?)" "p.(Ser28Gly)" "" "0001003874" "00022546" "30" "328" "0" "328" "0" "c.328A>C" "r.(?)" "p.(Ile110Leu)" "" "0001003875" "00022546" "50" "323" "0" "323" "0" "c.323T>G" "r.(?)" "p.(Ile108Ser)" "" "0001003876" "00022546" "30" "310" "0" "310" "0" "c.310G>A" "r.(?)" "p.(Ala104Thr)" "" "0001029768" "00022546" "90" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Arg56*)" "3" "0001042299" "00022546" "30" "3" "-174" "3" "-174" "c.3-174G>T" "r.(=)" "p.(=)" "" "0001055833" "00022546" "70" "188" "0" "188" "0" "c.188T>C" "r.(?)" "p.(Leu63Pro)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000182482" "0000406373" "0000182483" "0000406374" "0000182484" "0000406375" "0000182485" "0000406376" "0000182486" "0000406377" "0000465965" "0001029768"