### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = TUFM)
# 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}}"
"TUFM"	"Tu translation elongation factor, mitochondrial"	"16"	"p11.2"	"unknown"	"NG_008964.1"	"UD_132085437538"	""	"http://www.LOVD.nl/TUFM"	""	"1"	"12420"	"7284"	"602389"	"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"	"http://databases.lovd.nl/shared/refseq/TUFM_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2016-06-11 11:46:36"	"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}}"
"00022147"	"TUFM"	"Tu translation elongation factor, mitochondrial"	"001"	"NM_003321.4"	""	"NP_003312.3"	""	""	""	"-139"	"1932"	"1368"	"28857729"	"28853732"	""	"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}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"02969"	"COXPD4"	"combined oxidative phosphorylation deficiency, type 4 (COXPD-4)"	"AR"	"610678"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"TUFM"	"02969"


## Individuals ## Do not remove or alter this header ##
## Count = 10
"{{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}}"
"00003025"	""	""	""	"1"	""	"00130"	"{PMID:Neveling 2013:24123792}"	""	""	""	""	""	""	""	""	""	""
"00037293"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037294"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037295"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00037296"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00050458"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00050683"	""	""	""	"2"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, affected sibling(s)"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00073552"	""	""	""	"1"	""	"00006"	"{PMID:Valente 2007:17160893}"	"family, 1 affected, unaffected heterozygous carrier parents/sibs"	"F"	"no"	"Italy"	"01y02m"	"0"	""	""	"Tyrol, south"	""
"00210166"	""	""	""	"1"	""	"01164"	""	""	"M"	""	"Germany"	""	"0"	""	""	""	""
"00390025"	""	""	""	"1"	""	"00000"	"{PMID:Ruberto 2020:32507954}"	""	"?"	""	"Italy"	""	"0"	""	""	""	"3"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{individualid}}"	"{{diseaseid}}"
"00003025"	"00198"
"00050458"	"00198"
"00050683"	"00198"
"00073552"	"02969"
"00390025"	"04214"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 02969, 04214
## Count = 6
"{{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}}"
"0000001876"	"00198"	"00003025"	"00130"	"Isolated (sporadic)"	""	"PMR, myopathy, Leigh syndrome"	""	""	""	""	""	""	""	""	""	""	""
"0000037070"	"00198"	"00050458"	"00006"	"Isolated (sporadic)"	""	"microcephaly, intrauterine growth retardation, global developmental delay, abnormal size of the palpebral fissures, prominent nose, short 4th metacarpal, clinodactyly of the 5th finger, cutaneous syndactyly of toes, aggressive behavior"	""	""	""	""	""	""	""	""	""	""	""
"0000037295"	"00198"	"00050683"	"00006"	"Unknown"	""	"microcephaly, abnormality of the outer ear, prominent metopic ridge, narrow mouth, inferior vermis hypoplasia, delayed speech and language development"	""	""	""	""	""	""	""	""	""	""	""
"0000053227"	"02969"	"00073552"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., died at 14m"	""	""	""	""	""	""	""	""	""	""	""
"0000158739"	"00198"	"00210166"	"01164"	"Unknown"	""	"HP:0004904 (Maturity-onset diabetes of the young)"	""	""	""	""	""	""	""	""	""	""	""
"0000283565"	"04214"	"00390025"	"00000"	"Unknown"	"11m"	"Pale and tilted optic disk associated to hypoplasia, tortuous retinal vessels, non-homogeneous macula"	""	""	""	""	""	""	""	""	"Retinal dystrophy"	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 10
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000002931"	"00003025"	"2"	"00130"	"00008"	"2013-10-02 11:35:03"	""	""	"SEQ"	"DNA"	""	""
"0000037363"	"00037293"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000037364"	"00037294"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000037365"	"00037295"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000037366"	"00037296"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000050403"	"00050458"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050628"	"00050683"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000073712"	"00073552"	"1"	"00006"	"00006"	"2016-06-11 11:49:56"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000211242"	"00210166"	"1"	"01164"	"01164"	"2018-12-27 15:47:14"	""	""	"SEQ-NG"	"DNA"	""	""
"0000391266"	"00390025"	"1"	"00000"	"03840"	"2021-11-08 12:01:50"	""	""	"arrayCGH"	"DNA"	""	"targeted sequencing with 1 of 4 panels of OFTALMOgenics probes"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 7
"{{screeningid}}"	"{{geneid}}"
"0000002931"	"TUFM"
"0000037363"	"TUFM"
"0000037364"	"TUFM"
"0000037365"	"TUFM"
"0000037366"	"TUFM"
"0000073712"	"TUFM"
"0000391266"	"CLN3"


## 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}}"
"0000021307"	"1"	"70"	"16"	"28857270"	"28857270"	"del"	"0"	"00130"	"TUFM_000006"	"g.28857270del"	""	"{PMID:Neveling 2013:24123792}"	""	""	"Functional validation will be performed"	"Unknown"	"?"	""	""	""	""	"g.28845949del"	""	"likely pathogenic"	""
"0000021308"	"2"	"70"	"16"	"28855345"	"28855345"	"subst"	"0"	"00130"	"TUFM_000005"	"g.28855345G>A"	""	"{PMID:Neveling 2013:24123792}"	""	""	"Functional validation will be performed"	"Unknown"	"?"	""	""	""	""	"g.28844024G>A"	""	"likely pathogenic"	""
"0000064488"	"1"	"10"	"16"	"28855522"	"28855522"	"subst"	"0.35269"	"01164"	"TUFM_000002"	"g.28855522G>C"	""	""	""	""	""	"Germline"	""	"rs61737565"	"0"	""	""	"g.28844201G>C"	""	"benign"	""
"0000064489"	"1"	"10"	"16"	"28855727"	"28855727"	"subst"	"0.352742"	"01164"	"TUFM_000003"	"g.28855727A>G"	"frequency 15-30%"	""	""	""	""	"Germline"	""	"rs4788099"	"0"	""	""	"g.28844406A>G"	""	"benign"	""
"0000064490"	"1"	"10"	"16"	"28857645"	"28857645"	"subst"	"0"	"01164"	"TUFM_000001"	"g.28857645A>G"	"frequency 16-45%"	""	""	""	""	"Germline"	""	"rs7187776"	"0"	""	""	"g.28846324A>G"	""	"benign"	""
"0000064491"	"1"	"10"	"16"	"28856819"	"28856819"	"subst"	"0.304745"	"01164"	"TUFM_000004"	"g.28856819C>T"	"frequency 28-50%"	""	""	""	""	"Germline"	""	"rs8061877"	"0"	""	""	"g.28845498C>T"	""	"benign"	""
"0000079383"	"0"	"90"	"16"	"21530207"	"29332245"	"del"	"0"	"00006"	"CLN3_000009"	"g.21530207_29332245del"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"decreased gene dosage"	"De novo"	""	""	"0"	""	""	"g.21518886_29320924del"	""	"pathogenic"	""
"0000079608"	"0"	"90"	"16"	"27183151"	"31888684"	"dup"	"0"	"00006"	"CLN3_000010"	"g.27183151_31888684dup"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"mosaicism, copy number 3 in 0.33  cells"	"Somatic"	""	""	"0"	""	""	"g.27171830_31877363dup"	""	"pathogenic"	""
"0000117402"	"3"	"90"	"16"	"28855329"	"28855329"	"subst"	"0"	"00006"	"TUFM_000007"	"g.28855329C>T"	""	"{PMID:Valente 2007:17160893}, {OMIM602389:0001}"	""	""	""	"Germline"	"yes"	"rs121434452"	"0"	""	""	"g.28844008C>T"	""	"pathogenic"	""
"0000249207"	"0"	"10"	"16"	"28855727"	"28855727"	"subst"	"0.352742"	"02325"	"TUFM_000003"	"g.28855727A>G"	""	""	""	"TUFM(NM_003321.5):c.817+13T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28844406A>G"	""	"benign"	""
"0000442701"	"0"	"50"	"16"	"28854296"	"28854296"	"subst"	"0"	"01164"	"TUFM_000008"	"g.28854296T>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.28842975T>A"	""	"VUS"	"ACMG"
"0000807326"	"0"	"30"	"16"	"28855429"	"28855429"	"subst"	"4.06167E-6"	"01943"	"SH2B1_000018"	"g.28855429C>T"	""	""	""	"TUFM(NM_003321.4):c.923-7G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000820998"	"0"	"70"	"16"	"28100001"	"34600000"	"del"	"0"	"00000"	"CRYM_000000"	"g.28100001_34600000del"	""	"{PMID:Ruberto 2020:32507954}"	""	"CGH array, microdeletion in 16p11.2"	"zygosity not written; probable breakpoints; pathogenic in literature; genes ANKS4B,CRYM,NPIPB3,SMG1P3,RRN3P3,MIR3680-1,MIR3680-2,SLC7A5P2,LOC101927814,METTL9,IGSF6,OTOA,OTOAP1,RRN3P1,NPIPB4,NPIPB5,UQCRC2,PDZD9,MOSMO,VWA3A,EEF2K,POLR3E,CDR2,MFSD13B,HS3ST2,USP31,SCNN1G,SCNN1B,COG7,GGA2,EARS2,UBFD1,NDUFAB1,PALB2,DCTN5,PLK1,ERN2,CHP2"	"Unknown"	"?"	""	"0"	""	""	"g.28500001_35300000del"	""	"likely pathogenic"	""
"0001041019"	"0"	"50"	"16"	"28855622"	"28855622"	"subst"	"2.03036E-5"	"01804"	"SH2B1_000046"	"g.28855622C>T"	""	""	""	"TUFM(NM_003321.5):c.851G>A (p.(Arg284His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001041020"	"0"	"50"	"16"	"28855742"	"28855742"	"subst"	"0"	"01804"	"SH2B1_000047"	"g.28855742G>A"	""	""	""	"TUFM(NM_003321.5):c.815C>T (p.(Pro272Leu))"	"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 TUFM
## 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}}"
"0000021307"	"00022147"	"70"	"211"	"0"	"211"	"0"	"c.211del"	"r.(?)"	"p.(His71fs)"	"-"
"0000021308"	"00022147"	"70"	"1000"	"0"	"1000"	"0"	"c.1000C>T"	"r.(?)"	"p.(Arg334Trp)"	"-"
"0000064488"	"00022147"	"10"	"922"	"29"	"922"	"29"	"c.922+29C>G"	"r.(=)"	"p.(=)"	""
"0000064489"	"00022147"	"10"	"817"	"13"	"817"	"13"	"c.817+13T>C"	"r.(=)"	"p.(=)"	""
"0000064490"	"00022147"	"10"	"-55"	"0"	"-55"	"0"	"c.-55T>C"	"r.(=)"	"p.(=)"	""
"0000064491"	"00022147"	"10"	"248"	"-18"	"248"	"-18"	"c.248-18G>A"	"r.(=)"	"p.(=)"	""
"0000079383"	"00022147"	"00"	"-474655"	"0"	"7325457"	"0"	"c.-474655_*7324089del"	"r.0?"	"p.0?"	""
"0000079608"	"00022147"	"00"	"-3031094"	"0"	"1672513"	"0"	"c.-3031094_*1671145dup"	""	""	""
"0000117402"	"00022147"	"90"	"1016"	"0"	"1016"	"0"	"c.1016G>A"	"r.1016g>a"	"p.Arg339Gln"	"8"
"0000249207"	"00022147"	"10"	"817"	"13"	"817"	"13"	"c.817+13T>C"	"r.(=)"	"p.(=)"	""
"0000442701"	"00022147"	"50"	"1368"	"0"	"1368"	"0"	"c.1368A>T"	"r.(?)"	"p.*456Cysext*12"	""
"0000807326"	"00022147"	"30"	"923"	"-7"	"923"	"-7"	"c.923-7G>A"	"r.(=)"	"p.(=)"	""
"0000820998"	"00022147"	"70"	"-5742410"	"0"	"755663"	"0"	"c.-5742410_*754295del"	"r.0?"	"p.0?"	""
"0001041019"	"00022147"	"50"	"851"	"0"	"851"	"0"	"c.851G>A"	"r.(?)"	"p.(Arg284His)"	""
"0001041020"	"00022147"	"50"	"815"	"0"	"815"	"0"	"c.815C>T"	"r.(?)"	"p.(Pro272Leu)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 11
"{{screeningid}}"	"{{variantid}}"
"0000002931"	"0000021307"
"0000002931"	"0000021308"
"0000037363"	"0000064488"
"0000037364"	"0000064489"
"0000037365"	"0000064490"
"0000037366"	"0000064491"
"0000050403"	"0000079383"
"0000050628"	"0000079608"
"0000073712"	"0000117402"
"0000211242"	"0000442701"
"0000391266"	"0000820998"