### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = STXBP5L)
# 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}}"
"STXBP5L"	"syntaxin binding protein 5-like"	"3"	"q13.33-q21.1"	"no"	"NC_000003.11"	"UD_136094472249"	""	"http://www.LOVD.nl/STXBP5L"	""	"1"	"30757"	"9515"	"609381"	"1"	"1"	"1"	"1"	""	""	"g"	"http://databases.lovd.nl/shared/refseq/STXBP5L_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2015-03-13 20:10:39"	"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}}"
"00020529"	"STXBP5L"	"syntaxin binding protein 5-like"	"001"	"NM_014980.2"	""	"NP_055795.1"	""	""	""	"-140"	"9225"	"3561"	"120627050"	"121143608"	""	"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}}"
"04225"	"-"	"neurodegeneration"	""	""	""	""	""	"00006"	"2015-03-13 20:14:29"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0


## Individuals ## Do not remove or alter this header ##
## Count = 1
"{{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}}"
"00034216"	""	""	""	"2"	""	"00006"	"{PMID:Kumar 2015:25504045}, {PMID:Kumar 2015:10.1093/hmg/ddu614}, {PMID:Kumar 2022:35091571}"	"3-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents/sibs"	"F;M"	"yes"	""	""	"0"	""	""	"Middle East"	"family"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}"	"{{diseaseid}}"
"00034216"	"04225"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 04225
## Count = 1
"{{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}}"
"0000027612"	"04225"	"00034216"	"00006"	"Isolated (sporadic)"	""	"see paper;  infantile-onset neurodegenerative disorder, predominant\r\nsensorimotor axonal neuropathy, optic atrophy, cognitive deficit"	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000034285"	"00034216"	"1"	"00006"	"00006"	"2015-03-13 20:19:55"	"00006"	"2022-12-20 10:01:40"	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000034285"	"FMNL3"
"0000034285"	"STXBP5L"
"0000034285"	"TIMMDC1"


## 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 = 8
"{{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}}"
"0000061282"	"3"	"50"	"3"	"121132111"	"121132111"	"subst"	"2.91271E-5"	"00006"	"STXBP5L_000001"	"g.121132111G>A"	""	"{PMID:Kumar 2015:25504045}, {PMID:Kumar 2015:10.1093/hmg/ddu614}, {PMID:Kumar 2022:35091571}"	""	""	"original classification changed in Kumar 2022"	"Germline"	"yes"	""	"0"	""	""	"g.121413264G>A"	""	"VUS (!)"	""
"0000061287"	"0"	"90"	"3"	"121132111"	"121132111"	"subst"	"2.91271E-5"	"00006"	"STXBP5L_000001"	"g.121132111G>A"	""	"{PMID:Kumar 2015:25504045}, {PMID:Kumar 2015:10.1093/hmg/ddu614}"	""	""	"cDNA expression cloning in rat PC12 cells SNARE-dependent human growth hormone secretion assay shows enhanced inhibition of K+ stimulated exocytosis, calcium-dependent exocytosis reduced to 0.42"	"In vitro (cloned)"	"-"	""	"0"	""	""	"g.121413264G>A"	""	"NA"	""
"0000061288"	"0"	"90"	"3"	"121132111"	"121132111"	"subst"	"2.91271E-5"	"00006"	"STXBP5L_000001"	"g.121132111G>A"	""	"{PMID:Kumar 2015:25504045}, {PMID:Kumar 2015:10.1093/hmg/ddu614}"	""	""	"cDNA overexpression cloning in mouse E18.5 primary hippocampal neurons promotes significant axonal outgrowth"	"In vitro (cloned)"	"-"	""	"0"	""	""	"g.121413264G>A"	""	"NA"	""
"0000337049"	"0"	"10"	"3"	"121137976"	"121137976"	"subst"	"0.771521"	"02327"	"STXBP5L_000004"	"g.121137976C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.121419129C>T"	""	"benign"	""
"0000349567"	"0"	"10"	"3"	"120976051"	"120976051"	"subst"	"0.139616"	"02327"	"STXBP5L_000002"	"g.120976051C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.121257204C>G"	""	"benign"	""
"0000350679"	"0"	"10"	"3"	"121100283"	"121100283"	"subst"	"0.097214"	"02327"	"STXBP5L_000003"	"g.121100283G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.121381436G>A"	""	"benign"	""
"0000517490"	"0"	"30"	"3"	"120628434"	"120628434"	"subst"	"8.15847E-6"	"01943"	"STXBP5L_000005"	"g.120628434G>A"	""	""	""	"STXBP5L(NM_014980.2):c.9G>A (p.K3=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.120909587G>A"	""	"likely benign"	""
"0001033593"	"0"	"50"	"3"	"120628595"	"120628595"	"subst"	"0"	"01804"	"STXBP5L_000006"	"g.120628595A>G"	""	""	""	"STXBP5L(NM_001308330.2):c.170A>G (p.(Glu57Gly))"	"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 STXBP5L
## Count = 8
"{{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}}"
"0000061282"	"00020529"	"50"	"3127"	"0"	"3127"	"0"	"c.3127G>A"	"r.(?)"	"p.(Val1043Ile)"	"25"
"0000061287"	"00020529"	"90"	"3127"	"0"	"3127"	"0"	"c.3127G>A"	"r.(?)"	"p.Val1043Ile"	"25"
"0000061288"	"00020529"	"90"	"3127"	"0"	"3127"	"0"	"c.3127G>A"	"r.(?)"	"p.Val1043Ile"	"14"
"0000337049"	"00020529"	"10"	"3593"	"0"	"3593"	"0"	"c.*32C>T"	"r.(=)"	"p.(=)"	""
"0000349567"	"00020529"	"10"	"1703"	"0"	"1703"	"0"	"c.1703C>G"	"r.(?)"	"p.(Thr568Ser)"	""
"0000350679"	"00020529"	"10"	"2563"	"0"	"2563"	"0"	"c.2563G>A"	"r.(?)"	"p.(Val855Ile)"	""
"0000517490"	"00020529"	"30"	"9"	"0"	"9"	"0"	"c.9G>A"	"r.(?)"	"p.(Lys3=)"	""
"0001033593"	"00020529"	"50"	"170"	"0"	"170"	"0"	"c.170A>G"	"r.(?)"	"p.(Glu57Gly)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{variantid}}"
"0000034285"	"0000061282"