### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GUF1)
# 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}}"
"GUF1"	"GUF1 GTPase homolog (S. cerevisiae)"	"4"	"p13"	"unknown"	"NC_000004.11"	"UD_132439615464"	""	"http://www.LOVD.nl/GUF1"	""	"1"	"25799"	"60558"	"617064"	"1"	"1"	"1"	"1"	""	""	"g"	"http://databases.lovd.nl/shared/refseq/GUF1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2015-03-06 11:00:19"	"00000"	"2022-11-01 13:01:21"


## 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}}"
"00009073"	"GUF1"	"GUF1 GTPase homolog (S. cerevisiae)"	"001"	"NM_021927.2"	""	"NP_068746.2"	""	""	""	"-207"	"4009"	"2010"	"44680433"	"44702697"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 3
"{{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"
"04217"	"WEST"	"West syndrome (WEST, epileptic encephalopathy, early infantile)"	""	""	""	""	""	"00006"	"2015-03-06 11:05:39"	""	""
"06620"	"EIEE40"	"?Epileptic encephalopathy, early infantile, 40"	"AR"	"617065"	""	""	""	"00006"	"2021-12-10 23:20:41"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"GUF1"	"06620"


## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00033729"	""	""	""	"5"	""	"00576"	""	"patient affceted with West Syndrome"	"M"	"yes"	"Algeria"	""	"0"	""	""	""	""
"00387780"	""	""	""	"3"	""	"00006"	"{PMID:Hu 2019:29302074}"	"family, 3 affected individuals, first cousin parents"	""	"yes"	"Iran"	""	"0"	""	""	"Persia"	"M8600075"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00033729"	"04217"
"00387780"	"00139"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 04217, 06620
## Count = 2
"{{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}}"
"0000027217"	"04217"	"00033729"	"00576"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""
"0000281348"	"00139"	"00387780"	"00006"	"Familial, autosomal recessive"	""	"syndromic intellectual disability, microcephaly (SD-9.5)"	""	""	""	""	""	""	""	""	"intellectual disability"


## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000033797"	"00033729"	"1"	"00576"	"00576"	"2015-03-03 10:01:15"	""	""	"SEQ"	"DNA"	"blood"	""
"0000389011"	"00387780"	"1"	"00006"	"00006"	"2021-10-31 12:02:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{geneid}}"
"0000033797"	"GUF1"
"0000389011"	"GUF1"


## 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 = 7
"{{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}}"
"0000060565"	"3"	"90"	"4"	"44697741"	"44697741"	"subst"	"8.24416E-6"	"00576"	"GUF1_000001"	"g.44697741G>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.44695724G>T"	""	"pathogenic"	""
"0000288911"	"0"	"30"	"4"	"44688630"	"44688630"	"subst"	"8.13266E-6"	"01943"	"GUF1_000002"	"g.44688630G>C"	""	""	""	"GUF1(NM_021927.2):c.838G>C (p.V280L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44686613G>C"	""	"likely benign"	""
"0000522600"	"0"	"70"	"4"	"44692845"	"44692848"	"dup"	"0"	"01943"	"GNPDA2_000001"	"g.44692845_44692848dup"	""	""	""	"GUF1(NM_021927.2):c.1447_1450dupGAAT (p.Y484*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44690828_44690831dup"	""	"likely pathogenic"	""
"0000621395"	"0"	"50"	"4"	"44682806"	"44682806"	"subst"	"0"	"01943"	"GUF1_000004"	"g.44682806C>T"	""	""	""	"GUF1(NM_021927.2):c.373C>T (p.L125F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44680789C>T"	""	"VUS"	""
"0000817804"	"3"	"70"	"4"	"44688625"	"44688625"	"subst"	"8.13345E-6"	"00006"	"GUF1_000005"	"g.44688625G>T"	""	"{PMID:Hu 2019:29302074}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.44686608G>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000886288"	"0"	"50"	"4"	"44700590"	"44700590"	"subst"	"3.38001E-5"	"02329"	"GNPDA2_000002"	"g.44700590G>C"	""	""	""	"GUF1(NM_001345867.1):c.930G>C (p.K310N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000886289"	"0"	"50"	"4"	"44700615"	"44700615"	"subst"	"1.26326E-5"	"02329"	"GNPDA2_000003"	"g.44700615A>G"	""	""	""	"GUF1(NM_001345867.1):c.955A>G (p.K319E)"	"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 GUF1
## Count = 7
"{{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}}"
"0000060565"	"00009073"	"90"	"1825"	"0"	"1825"	"0"	"c.1825G>T"	"r.(2032g>u)"	"p.(Ala609Ser)"	"15"
"0000288911"	"00009073"	"30"	"838"	"0"	"838"	"0"	"c.838G>C"	"r.(?)"	"p.(Val280Leu)"	""
"0000522600"	"00009073"	"70"	"1447"	"0"	"1450"	"0"	"c.1447_1450dup"	"r.(?)"	"p.(Tyr484Ter)"	""
"0000621395"	"00009073"	"50"	"373"	"0"	"373"	"0"	"c.373C>T"	"r.(?)"	"p.(Leu125Phe)"	""
"0000817804"	"00009073"	"70"	"833"	"0"	"833"	"0"	"c.833G>T"	"r.(?)"	"p.(Gly278Val)"	""
"0000886288"	"00009073"	"50"	"1902"	"0"	"1902"	"0"	"c.1902G>C"	"r.(?)"	"p.(Lys634Asn)"	""
"0000886289"	"00009073"	"50"	"1927"	"0"	"1927"	"0"	"c.1927A>G"	"r.(?)"	"p.(Lys643Glu)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{variantid}}"
"0000033797"	"0000060565"
"0000389011"	"0000817804"