### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SNAPIN)
# 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}}"
"SNAPIN"	"SNAP-associated protein"	"1"	"q22"	"unknown"	"NC_000001.10"	"UD_136091824431"	""	"https://www.LOVD.nl/SNAPIN"	""	"1"	"17145"	"23557"	"607007"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"https://databases.lovd.nl/shared/refseq/SNAPIN_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2025-10-13 13:20:05"	"00006"	"2025-10-13 13:28:25"


## 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}}"
"00019504"	"SNAPIN"	"transcript variant 1"	"001"	"NM_012437.5"	""	"NP_036569.1"	""	""	""	"-90"	"962"	"411"	"153631130"	"153634328"	""	"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}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"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}}"
"SNAPIN"	"05611"


## Individuals ## Do not remove or alter this header ##
## Count = 7
"{{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}}"
"00150221"	""	""	""	"1"	""	"00006"	"{PMID:Karaca 2015:26539891}"	""	""	""	""	""	"0"	"family structure in paper"	""	""	"26539891-FamBAB5382"
"00467461"	""	""	""	"1"	""	"00006"	"{PMID:Yousaf 2025:40930097}, {DOI:Yousaf 2025:10.1016/j.ajhg.2025.08.015}"	"2-generation family, 1 affected fetus, unaffected heterozygous carrier parents"	""	"yes"	"United States"	"<0d"	"0"	""	""	"Pakistan"	"FamAPatII1"
"00467462"	""	""	""	"1"	""	"00006"	"{PMID:Yousaf 2025:40930097}, {DOI:Yousaf 2025:10.1016/j.ajhg.2025.08.015}"	"2-generation family, 1 affected fetus, unaffected heterozygous carrier parents"	""	"yes"	"Netherlands"	"<0d"	"0"	""	""	""	"FamBPatII3"
"00467463"	""	""	""	"2"	""	"00006"	"{PMID:Yousaf 2025:40930097}, {DOI:Yousaf 2025:10.1016/j.ajhg.2025.08.015}"	"2-generation family, 2 affected fetusess, unaffected heterozygous carrier parents"	""	"yes"	"France"	"<0d"	"0"	""	""	""	"FamCPatII2"
"00467464"	""	""	"00467463"	"1"	""	"00006"	"{PMID:Yousaf 2025:40930097}, {DOI:Yousaf 2025:10.1016/j.ajhg.2025.08.015}"	"fetus"	""	"yes"	"France"	"<0d"	"0"	""	""	""	"FamCPatII3"
"00467465"	""	""	""	"1"	""	"00006"	"{PMID:Yousaf 2025:40930097}, {DOI:Yousaf 2025:10.1016/j.ajhg.2025.08.015}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"yes"	"France"	""	"0"	""	""	""	"FamDPatII2"
"00467466"	""	""	""	"1"	""	"00006"	"{PMID:Yousaf 2025:40930097}, {DOI:Yousaf 2025:10.1016/j.ajhg.2025.08.015}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"yes"	"Syria"	""	"0"	""	""	""	"FamEPatII3"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 7
"{{individualid}}"	"{{diseaseid}}"
"00150221"	"00198"
"00467461"	"05611"
"00467462"	"05611"
"00467463"	"05611"
"00467464"	"05611"
"00467465"	"05611"
"00467466"	"05611"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 05611
## Count = 7
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000122623"	"00198"	"00150221"	"00006"	"Unknown"	""	"intellectual diability, microcephaly, cortical atrophy, bulbar and cerebellar hypoplasia, sensorineural polyneuropathy, hypotonia"	""	""	""	""	""	""	""	""	""	""	""
"0000352668"	"05611"	"00467461"	"00006"	"Familial, autosomal recessive"	"<0d"	"see paper; ...,26wg-intrauterine death; ventriculomegaly; cerebellar hypoplasia/atrophy; clubfeet; flexion contractures; no microcephaly"	""	""	""	""	""	""	""	""	""	"neurodevelopmental disorder"	""
"0000352669"	"05611"	"00467462"	"00006"	"Familial, autosomal recessive"	"<0d"	"see paper; ..., 23wg-termination pregnancy; ventriculomegaly; cerebellar hypoplasia/atrophy; clubfeet; corpus callosum agenesis; flexion contractures; no microcephaly; micrognathia and/or retrognathia; clenched fists with overlapping fingers; brainstem dysgenesis, interhemispheric cyst, lissencephaly, schizencephaly, narrow thoracic cavity, skin edema"	""	""	""	""	""	""	""	""	""	"neurodevelopmental disorder"	""
"0000352670"	"05611"	"00467463"	"00006"	"Familial, autosomal recessive"	"<0d"	"see paper; ..., 22wg-termination pregnancy; ventriculomegaly; cerebellar hypoplasia/atrophy; clubfeet; corpus callosum agenesis; flexion contractures; microcephaly; micrognathia and/or retrognathia; brainstem dysgenesis, lissencephaly, periventricular heterotopia, vermis dysgenesis, fetal immobility, cleft palate, malposition extremities"	""	""	""	""	""	""	""	""	""	"neurodevelopmental disorder"	""
"0000352671"	"05611"	"00467464"	"00006"	"Familial, autosomal recessive"	"<0d"	"see paper; ..., 18wg-termination pregnancy; ventriculomegaly; no cerebellar hypoplasia/atrophy; clubfeet; corpus callosum agenesis; flexion contractures; micrognathia and/or retrognathia; cortical dysplasia, hippocampal winding defect, fetal immobility, malposition extremities, fetal hydrops"	""	""	""	""	""	""	""	""	""	"neurodevelopmental disorder"	""
"0000352672"	"05611"	"00467465"	"00006"	"Familial, autosomal recessive"	"8y"	"see paper; ..., no ventriculomegaly; cerebellar hypoplasia/atrophy; no clubfeet; corpus callosum agenesis; no flexion contractures; microcephaly; no micrognathia, no retrognathia; no clenched fists with overlapping fingers; cerebellar vermis atrophy, amyotrophy, cataract with bilateral microphthalmia, small hands/feet, growth hormone deficiency"	""	""	""	""	""	""	""	""	""	"neurodevelopmental disorder"	""
"0000352673"	"05611"	"00467466"	"00006"	"Familial, autosomal recessive"	"1y"	"see paper; ..., ventriculomegaly; cerebellar hypoplasia/atrophy; no clubfeet; no flexion contractures; microcephaly; micrognathia and/or retrognathia; no clenched fists with overlapping fingers; nodular heterotopia, optic atrophy, enlarged cisterna magna, polymicrogyria, ventricular septal defect"	""	""	""	""	""	""	""	""	""	"neurodevelopmental disorder"	""


## Screenings ## Do not remove or alter this header ##
## Count = 7
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000151076"	"00150221"	"1"	"00006"	"00006"	"2018-01-13 12:41:38"	""	""	"SEQ-NG-I"	"DNA"	""	"WES"
"0000469124"	"00467461"	"1"	"00006"	"00006"	"2025-10-13 13:28:22"	""	""	"SEQ;SEQ-NG"	"DNA"	"amniotic fluid"	"WES"
"0000469125"	"00467462"	"1"	"00006"	"00006"	"2025-10-13 13:28:22"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	"amniotic fluid"	"WES"
"0000469126"	"00467463"	"1"	"00006"	"00006"	"2025-10-13 13:28:22"	""	""	"SEQ;SEQ-NG"	"DNA"	"amniotic fluid"	"WES"
"0000469127"	"00467464"	"1"	"00006"	"00006"	"2025-10-13 13:28:22"	""	""	"SEQ;SEQ-NG"	"DNA"	"amniotic fluid"	"WES"
"0000469128"	"00467465"	"1"	"00006"	"00006"	"2025-10-13 13:28:22"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	"WGS"
"0000469129"	"00467466"	"1"	"00006"	"00006"	"2025-10-13 13:28:22"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000151076"	"SNAPIN"


## 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}}"
"0000244244"	"3"	"90"	"1"	"153631633"	"153631633"	"subst"	"0"	"00006"	"SNAPIN_000002"	"g.153631633C>T"	""	"{PMID:Karaca 2015:26539891}"	""	"NM_012437: c.A163T; p.N55Y"	""	"Germline"	""	""	"0"	""	""	"g.153659157C>T"	""	"pathogenic"	""
"0000320999"	"0"	"50"	"1"	"153631613"	"153631613"	"subst"	"0"	"01804"	"SNAPIN_000001"	"g.153631613G>A"	""	""	""	"SNAPIN(NM_012437.5):c.144-1G>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.153659137G>A"	""	"VUS"	""
"0001049302"	"3"	"70"	"1"	"153631310"	"153631310"	"subst"	"0"	"00006"	"SNAPIN_000003"	"g.153631310G>T"	""	"{PMID:Yousaf 2025:40930097}, {DOI:Yousaf 2025:10.1016/j.ajhg.2025.08.015}"	""	""	""	"Germline"	""	"rs755958756"	"0"	""	""	"g.153658834G>T"	""	"likely pathogenic (recessive)"	""
"0001049303"	"3"	"70"	"1"	"153631613"	"153631613"	"subst"	"0"	"00006"	"SNAPIN_000001"	"g.153631613G>A"	""	"{PMID:Yousaf 2025:40930097}, {DOI:Yousaf 2025:10.1016/j.ajhg.2025.08.015}"	""	""	"non-sende mediated mRNA decay"	"Germline"	""	"rs770993957"	"0"	""	""	"g.153659137G>A"	""	"likely pathogenic (recessive)"	""
"0001049304"	"3"	"70"	"1"	"153631331"	"153631331"	"subst"	"0"	"00006"	"SNAPIN_000004"	"g.153631331C>T"	""	"{PMID:Yousaf 2025:40930097}, {DOI:Yousaf 2025:10.1016/j.ajhg.2025.08.015}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.153658855C>T"	""	"likely pathogenic (recessive)"	""
"0001049305"	"3"	"70"	"1"	"153631331"	"153631331"	"subst"	"0"	"00006"	"SNAPIN_000004"	"g.153631331C>T"	""	"{PMID:Yousaf 2025:40930097}, {DOI:Yousaf 2025:10.1016/j.ajhg.2025.08.015}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.153658855C>T"	""	"likely pathogenic (recessive)"	""
"0001049306"	"3"	"70"	"1"	"153631617"	"153631617"	"subst"	"0.000219293"	"00006"	"SNAPIN_000005"	"g.153631617G>C"	""	"{PMID:Yousaf 2025:40930097}, {DOI:Yousaf 2025:10.1016/j.ajhg.2025.08.015}"	""	""	""	"Germline"	""	"rs576002664"	"0"	""	""	"g.153659141G>C"	""	"likely pathogenic (recessive)"	""
"0001049307"	"3"	"70"	"1"	"153631633"	"153631633"	"subst"	"0"	"00006"	"SNAPIN_000002"	"g.153631633C>T"	""	"{PMID:Yousaf 2025:40930097}, {DOI:Yousaf 2025:10.1016/j.ajhg.2025.08.015}"	""	""	""	"Germline"	""	"rs1060499751"	"0"	""	""	"g.153659157C>T"	""	"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 SNAPIN
## 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}}"
"0000244244"	"00019504"	"90"	"163"	"0"	"163"	"0"	"c.163C>T"	"r.(?)"	"p.(Arg55Trp)"	""
"0000320999"	"00019504"	"50"	"144"	"-1"	"144"	"-1"	"c.144-1G>A"	"r.spl?"	"p.?"	""
"0001049302"	"00019504"	"70"	"91"	"0"	"91"	"0"	"c.91G>T"	"r.(?)"	"p.(Glu31Ter)"	""
"0001049303"	"00019504"	"70"	"144"	"-1"	"144"	"-1"	"c.144-1G>A"	"r.144_190del"	"p.Glu49ThrfsTer6"	"1i"
"0001049304"	"00019504"	"70"	"112"	"0"	"112"	"0"	"c.112C>T"	"r.(?)"	"p.(Gln38Ter)"	""
"0001049305"	"00019504"	"70"	"112"	"0"	"112"	"0"	"c.112C>T"	"r.(?)"	"p.(Gln38Ter)"	""
"0001049306"	"00019504"	"70"	"147"	"0"	"147"	"0"	"c.147G>C"	"r.(?)"	"p.(Glu49Asp)"	""
"0001049307"	"00019504"	"70"	"163"	"0"	"163"	"0"	"c.163C>T"	"r.(?)"	"p.(Arg55Trp)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 7
"{{screeningid}}"	"{{variantid}}"
"0000151076"	"0000244244"
"0000469124"	"0001049302"
"0000469125"	"0001049303"
"0000469126"	"0001049304"
"0000469127"	"0001049305"
"0000469128"	"0001049306"
"0000469129"	"0001049307"