### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PNPLA7)
# 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}}"
"PNPLA7"	"patatin-like phospholipase domain containing 7"	"9"	"q34.3"	"unknown"	"NC_000009.11"	"UD_132611005373"	""	"https://www.LOVD.nl/PNPLA7"	""	"1"	"24768"	"375775"	"612122"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/PNPLA7_codingDNA.html"	"1"	""	""	"-1"	""	"0"	"00001"	"2013-05-03 00:00:00"	"00006"	"2019-12-07 10:57:22"	"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}}"
"00025481"	"PNPLA7"	"transcript variant 1"	"005"	"NM_001098537.1"	""	"NP_001092007.1"	""	""	""	"-337"	"4469"	"4029"	"140444986"	"140354405"	"00006"	"2019-12-07 10:59:14"	""	""


## 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}}"
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"


## 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}}"
"00265343"	""	""	""	"2"	""	"03427"	"{PMID:Dias 2019:31668703}"	""	"F"	"yes"	"Iran"	""	"0"	""	""	""	"Fam3PatIV1"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}"	"{{diseaseid}}"
"00265343"	"00139"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139
## 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}}"
"0000203140"	"00139"	"00265343"	"03427"	"Familial, autosomal recessive"	"15y"	"intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; no hyperactivity; screaming/laughing spells; no self-injury/hand-biting; no bruxism; hypotonia in infancy; nonambulatory; no MRI brain abnormalities; no seizures; no microcephaly; dysmorphic features; ophthalmologic features; gastrointestinal symptoms"	""	""	""	""	""	""	""	""	""


## 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}}"
"0000266462"	"00265343"	"1"	"03427"	"03427"	"2019-09-20 22:13:34"	""	""	"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 = 16
"{{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}}"
"0000306038"	"0"	"30"	"9"	"140442028"	"140442028"	"subst"	"4.06712E-6"	"01943"	"PNPLA7_000003"	"g.140442028G>C"	""	""	""	"PNPLA7(NM_001098537.3):c.105+9C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.137547576G>C"	""	"likely benign"	""
"0000306039"	"0"	"30"	"9"	"140441821"	"140441821"	"subst"	"0.000654472"	"01943"	"PNPLA7_000002"	"g.140441821G>A"	""	""	""	"PNPLA7(NM_001098537.3):c.133C>T (p.L45=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.137547369G>A"	""	"likely benign"	""
"0000306041"	"0"	"50"	"9"	"140358601"	"140358601"	"subst"	"2.85302E-5"	"01943"	"PNPLA7_000001"	"g.140358601G>A"	""	""	""	"PNPLA7(NM_001098537.3):c.3203C>T (p.S1068L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.137464149G>A"	""	"VUS"	""
"0000341302"	"0"	"50"	"9"	"140349707"	"140349707"	"subst"	"0.000223961"	"02327"	"NSMF_000002"	"g.140349707C>T"	""	""	""	"NSMF(NM_001130969.1):c.763G>A (p.A255T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.137455255C>T"	""	"VUS"	""
"0000537581"	"0"	"50"	"9"	"140350929"	"140350929"	"subst"	"4.46802E-5"	"02327"	"PNPLA7_000005"	"g.140350929G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.137456477G>A"	""	"VUS"	""
"0000537584"	"0"	"30"	"9"	"140437937"	"140437937"	"subst"	"0.00270576"	"01943"	"PNPLA7_000008"	"g.140437937G>A"	""	""	""	"PNPLA7(NM_001098537.3):c.453C>T (p.D151=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.137543485G>A"	""	"likely benign"	""
"0000537586"	"0"	"10"	"9"	"140444628"	"140444628"	"dup"	"0"	"01943"	"MRPL41_000002"	"g.140444628dup"	""	""	""	"PNPLA7(NM_001098537.3):c.22dupA (p.S8Kfs*5)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.137550176dup"	""	"benign"	""
"0000537587"	"0"	"30"	"9"	"140450001"	"140450001"	"subst"	"0.00549392"	"01804"	"MRPL41_000003"	"g.140450001C>T"	""	""	""	"DPH7(NM_138778.2):c.1049G>A (p.(Arg350Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.137555549C>T"	""	"likely benign"	""
"0000622236"	"0"	"50"	"9"	"140349707"	"140349707"	"subst"	"0.000223961"	"01943"	"NSMF_000002"	"g.140349707C>T"	""	""	""	"NSMF(NM_001130969.1):c.763G>A (p.A255T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.137455255C>T"	""	"VUS"	""
"0000624797"	"3"	"50"	"9"	"140444616"	"140444616"	"subst"	"6.51254E-5"	"00006"	"PNPLA7_000009"	"g.140444616A>G"	""	"{PMID:Dias 2019:31668703}"	""	""	"variants segregating with clinical phenotype"	"Germline"	"yes"	""	"0"	""	""	"g.137550164A>G"	""	"VUS"	""
"0000978594"	"0"	"30"	"9"	"140356453"	"140356453"	"dup"	"0"	"01804"	"NSMF_000003"	"g.140356453dup"	""	""	""	"PNPLA7(NM_001098537.3):c.3689dup (p.(Arg1231ProfsTer42))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997736"	"0"	"50"	"9"	"140446853"	"140446853"	"subst"	"8.28384E-6"	"01804"	"MRPL41_000005"	"g.140446853G>A"	""	""	""	"MRPL41(NM_032477.2):c.320G>A (p.(Gly107Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000997737"	"0"	"50"	"9"	"140446891"	"140446891"	"subst"	"1.29058E-5"	"01804"	"MRPL41_000006"	"g.140446891G>C"	""	""	""	"MRPL41(NM_032477.2):c.358G>C (p.(Glu120Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037385"	"0"	"50"	"9"	"140375459"	"140375459"	"subst"	"0.00028166"	"01804"	"PNPLA7_000010"	"g.140375459C>A"	""	""	""	"PNPLA7(NM_001098537.3):c.2364G>T (p.(Leu788=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037386"	"0"	"50"	"9"	"140409842"	"140409842"	"subst"	"0.000770034"	"01804"	"PNPLA7_000011"	"g.140409842G>A"	""	""	""	"PNPLA7(NM_001098537.3):c.1214C>T (p.(Ser405Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037387"	"0"	"50"	"9"	"140416113"	"140416113"	"subst"	"0.000192053"	"01804"	"PNPLA7_000012"	"g.140416113C>A"	""	""	""	"PNPLA7(NM_001098537.3):c.932G>T (p.(Gly311Val))"	"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 PNPLA7
## Count = 16
"{{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}}"
"0000306038"	"00025481"	"30"	"105"	"9"	"105"	"9"	"c.105+9C>G"	"r.(=)"	"p.(=)"	""
"0000306039"	"00025481"	"30"	"133"	"0"	"133"	"0"	"c.133C>T"	"r.(?)"	"p.(Leu45=)"	""
"0000306041"	"00025481"	"50"	"3203"	"0"	"3203"	"0"	"c.3203C>T"	"r.(?)"	"p.(Ser1068Leu)"	""
"0000341302"	"00025481"	"50"	"9167"	"0"	"9167"	"0"	"c.*5138G>A"	"r.(=)"	"p.(=)"	""
"0000537581"	"00025481"	"50"	"7945"	"0"	"7945"	"0"	"c.*3916C>T"	"r.(=)"	"p.(=)"	""
"0000537584"	"00025481"	"30"	"453"	"0"	"453"	"0"	"c.453C>T"	"r.(?)"	"p.(Asp151=)"	""
"0000537586"	"00025481"	"10"	"22"	"0"	"22"	"0"	"c.22dup"	"r.(?)"	"p.(Ser8LysfsTer5)"	""
"0000537587"	"00025481"	"30"	"-5352"	"0"	"-5352"	"0"	"c.-5352G>A"	"r.(?)"	"p.(=)"	""
"0000622236"	"00025481"	"50"	"9167"	"0"	"9167"	"0"	"c.*5138G>A"	"r.(=)"	"p.(=)"	""
"0000624797"	"00025481"	"50"	"30"	"4"	"30"	"4"	"c.30+4T>C"	"r.spl?"	"p.?"	""
"0000978594"	"00025481"	"30"	"3689"	"0"	"3689"	"0"	"c.3689dup"	"r.(?)"	"p.(Arg1231Profs*42)"	""
"0000997736"	"00025481"	"50"	"-2204"	"0"	"-2204"	"0"	"c.-2204C>T"	"r.(?)"	"p.(=)"	""
"0000997737"	"00025481"	"50"	"-2242"	"0"	"-2242"	"0"	"c.-2242C>G"	"r.(?)"	"p.(=)"	""
"0001037385"	"00025481"	"50"	"2364"	"0"	"2364"	"0"	"c.2364G>T"	"r.(?)"	"p.(=)"	""
"0001037386"	"00025481"	"50"	"1214"	"0"	"1214"	"0"	"c.1214C>T"	"r.(?)"	"p.(Ser405Leu)"	""
"0001037387"	"00025481"	"50"	"932"	"0"	"932"	"0"	"c.932G>T"	"r.(?)"	"p.(Gly311Val)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{variantid}}"
"0000266462"	"0000624797"