### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = TTI2)
# 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}}"
"TTI2"	"TELO2 interacting protein 2"	"8"	"p12"	"unknown"	"NG_033257.1"	"UD_136021340350"	""	"https://www.LOVD.nl/TTI2"	""	"1"	"26262"	"80185"	"614426"	"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."	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2019-03-29 14:20:17"	"00000"	"2026-01-20 18:57:21"


## 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}}"
"00022054"	"TTI2"	"transcript variant 2"	"003"	"NM_025115.3"	""	"NP_079391.2"	""	""	""	"-572"	"2191"	"1527"	"33370703"	"33356027"	""	"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"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"03994"	"MRT39"	"mental retardation, autosomal recessive, type 39 (MRT-39)"	"AR"	"615541"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"TTI2"	"03994"


## Individuals ## Do not remove or alter this header ##
## Count = 4
"{{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}}"
"00001639"	""	""	""	"3"	""	"00104"	"{PMID:Langouet 2013:23956177}, {DOI:Langouet 2013:10.1002/humu.22399}"	"3-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives"	"F;M"	"yes"	"Algeria"	""	"0"	""	""	""	"FamPatIII2/5/9"
"00229561"	""	""	""	"4"	""	"00006"	"{PMID:Najmabadi 2011:21937992}"	"family, 4 affected"	""	"yes"	"Iran"	""	"0"	""	""	""	"FamM100"
"00294628"	""	""	""	"3"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00361508"	""	""	""	"1"	""	"00006"	"{PMID:Anazi 2017:27431290}"	"simplex case"	"F"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"14DG0038"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{individualid}}"	"{{diseaseid}}"
"00001639"	"00139"
"00229561"	"00139"
"00294628"	"00198"
"00361508"	"00139"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 03994
## Count = 3
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Birth/Gestational_age_wk}}"	"{{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}}"
"0000172838"	"00139"	"00001639"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., born normal growth parameters, an unremarkable pregnancy/delivery, uncomplicated neonatal period; 30–36y, occipitofrontal circumference −3 to −4SD, severe cognitive impairment, severe speech delay, behavioral disturbances, no seizures, short stature, vertebral anomalies, sloping forehead, deep set eyes, anteverted large ears; normal circulating T, B, NK cell counts, mild naive T (CD4, CD8) lymphocytopenia; neurological examination normal, molecular karyotyping normal, normal metabolic workup; severe intellectual disability (HP:0010864); severe speech delay (HP:0000750)"	""	""	""	""	""	""	""	""	""	"MRT-39"	"intellectual disability"	""
"0000172840"	"00139"	"00229561"	"00006"	"Familial, autosomal recessive"	""	"non-syndromic intellectual disability; moderate intellectual disability (HP:0002342)"	""	""	""	""	""	""	""	""	""	""	"non-syndromic intellectual disability"	""
"0000256913"	"00139"	"00361508"	"00006"	"Familial, autosomal recessive"	"14y"	"not syndromic; intellectual disability and boarderline microcephaly"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""


## Screenings ## Do not remove or alter this header ##
## Count = 4
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000001439"	"00001639"	"1"	"00104"	"00104"	"2013-07-29 18:18:03"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000230656"	"00229561"	"1"	"00006"	"00006"	"2019-03-29 15:13:46"	""	""	"SEQ"	"DNA"	""	""
"0000295796"	"00294628"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000362736"	"00361508"	"1"	"00006"	"00006"	"2021-04-07 19:07:03"	""	""	"SEQ-NG"	"DNA"	""	"758-gene panel"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000001439"	"TTI2"
"0000230656"	"TTI2"
"0000362736"	"TTI2"


## 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 = 20
"{{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}}"
"0000019236"	"3"	"95"	"8"	"33357961"	"33357961"	"subst"	"0"	"00104"	"TTI2_000001"	"g.33357961A>T"	""	"{PMID:Langouet 2013:23956177}, {DOI:Langouet 2013:10.1002/humu.22399}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.33500443A>T"	""	"pathogenic (recessive)"	""
"0000313580"	"0"	"50"	"8"	"33361318"	"33361318"	"subst"	"0.0031141"	"02329"	"TTI2_000002"	"g.33361318G>A"	""	""	""	"TTI2(NM_001102401.2):c.1063C>T (p.(Arg355Cys)), TTI2(NM_025115.3):c.1063C>T (p.R355C), TTI2(NM_025115.5):c.1063C>T (p.R355C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.33503800G>A"	""	"VUS"	""
"0000314913"	"0"	"90"	"8"	"33369537"	"33369537"	"subst"	"8.1215E-6"	"02326"	"TTI2_000003"	"g.33369537C>A"	""	""	""	"TTI2(NM_025115.4):c.595G>T (p.E199*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.33512019C>A"	""	"pathogenic"	""
"0000339896"	"0"	"10"	"8"	"33369994"	"33369994"	"subst"	"0.590356"	"02327"	"TTI2_000004"	"g.33369994A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.33512476A>G"	""	"benign"	""
"0000472231"	"3"	"70"	"8"	"33361281"	"33361281"	"subst"	"3.25996E-5"	"00006"	"TTI2_000005"	"g.33361281G>A"	""	"{PMID:Najmabadi 2011:21937992}"	""	"P367L"	"not in 112 controls"	"Germline"	"yes"	""	"0"	""	""	"g.33503763G>A"	""	"likely pathogenic"	""
"0000534702"	"0"	"30"	"8"	"33361318"	"33361318"	"subst"	"0.0031141"	"01943"	"TTI2_000002"	"g.33361318G>A"	""	""	""	"TTI2(NM_001102401.2):c.1063C>T (p.(Arg355Cys)), TTI2(NM_025115.3):c.1063C>T (p.R355C), TTI2(NM_025115.5):c.1063C>T (p.R355C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.33503800G>A"	""	"likely benign"	""
"0000534704"	"0"	"30"	"8"	"33369527"	"33369527"	"subst"	"0"	"01804"	"MAK16_000002"	"g.33369527C>T"	""	""	""	"TTI2(NM_001102401.2):c.605G>A (p.(Arg202Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.33512009C>T"	""	"likely benign"	""
"0000652485"	"1"	"50"	"8"	"33361318"	"33361318"	"subst"	"0.0031141"	"03575"	"TTI2_000002"	"g.33361318G>A"	"3/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"3 heterozygous, no homozygous; {DB:CLININrs138108276}"	"Germline"	""	"rs138108276"	"0"	""	""	"g.33503800G>A"	""	"VUS"	""
"0000690255"	"0"	"70"	"8"	"33361264"	"33361264"	"subst"	"4.08553E-6"	"01943"	"MAK16_000003"	"g.33361264A>G"	""	""	""	"TTI2(NM_025115.3):c.1115+2T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000763110"	"3"	"70"	"8"	"33357866"	"33357866"	"subst"	"0"	"00006"	"TTI2_000006"	"g.33357866A>G"	""	"{PMID:Anazi 2017:27431290}"	""	""	"ACMG PM1, PM2, PP2, PP3"	"Germline"	""	""	"0"	""	""	"g.33500348A>G"	""	"likely pathogenic"	"ACMG"
"0000851910"	"0"	"50"	"8"	"33361374"	"33361374"	"subst"	"0"	"01943"	"MAK16_000004"	"g.33361374G>A"	""	""	""	"TTI2(NM_025115.3):c.1007C>T (p.T336I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000851911"	"0"	"30"	"8"	"33367302"	"33367302"	"subst"	"4.06072E-6"	"01943"	"MAK16_000005"	"g.33367302G>A"	""	""	""	"TTI2(NM_025115.3):c.796C>T (p.L266=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000888329"	"0"	"50"	"8"	"33370001"	"33370002"	"del"	"9.74912E-5"	"01943"	"MAK16_000006"	"g.33370001_33370002del"	""	""	""	"TTI2(NM_025115.3):c.130_131delCG (p.G45Qfs*8)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000888330"	"0"	"50"	"8"	"33370004"	"33370004"	"del"	"9.34299E-5"	"01943"	"MAK16_000007"	"g.33370004del"	""	""	""	"TTI2(NM_025115.3):c.128delG (p.R43Hfs*5)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000888331"	"0"	"50"	"8"	"33370005"	"33370005"	"subst"	"9.34405E-5"	"01943"	"MAK16_000008"	"g.33370005G>T"	""	""	""	"TTI2(NM_025115.3):c.127C>A (p.R43=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000949070"	"0"	"30"	"8"	"33361318"	"33361318"	"subst"	"0.0031141"	"01804"	"TTI2_000002"	"g.33361318G>A"	""	""	""	"TTI2(NM_001102401.2):c.1063C>T (p.(Arg355Cys)), TTI2(NM_025115.3):c.1063C>T (p.R355C), TTI2(NM_025115.5):c.1063C>T (p.R355C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978186"	"0"	"50"	"8"	"33361381"	"33361381"	"subst"	"0"	"01804"	"MAK16_000009"	"g.33361381G>C"	""	""	""	"TTI2(NM_001102401.4):c.1000C>G (p.(Arg334Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001052987"	"0"	"50"	"8"	"33347837"	"33347837"	"subst"	"6.10049E-5"	"01804"	"MAK16_000010"	"g.33347837C>T"	""	""	""	"MAK16(NM_032509.4):c.427C>T (p.(Arg143Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001052988"	"0"	"50"	"8"	"33364808"	"33364808"	"subst"	"0"	"01804"	"MAK16_000011"	"g.33364808G>C"	""	""	""	"TTI2(NM_001102401.4):c.866C>G (p.(Ala289Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001064906"	"0"	"50"	"8"	"33357846"	"33357846"	"subst"	"1.22307E-5"	"01804"	"MAK16_000012"	"g.33357846C>T"	""	""	""	"TTI2(NM_001102401.4):c.1422G>A (p.(Lys474=))"	"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 TTI2
## Count = 20
"{{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}}"
"0000019236"	"00022054"	"95"	"1307"	"0"	"1307"	"0"	"c.1307T>A"	"r.(?)"	"p.(Ile436Asn)"	"6"
"0000313580"	"00022054"	"50"	"1063"	"0"	"1063"	"0"	"c.1063C>T"	"r.(?)"	"p.(Arg355Cys)"	""
"0000314913"	"00022054"	"90"	"595"	"0"	"595"	"0"	"c.595G>T"	"r.(?)"	"p.(Glu199Ter)"	""
"0000339896"	"00022054"	"10"	"138"	"0"	"138"	"0"	"c.138T>C"	"r.(?)"	"p.(Asn46=)"	""
"0000472231"	"00022054"	"70"	"1100"	"0"	"1100"	"0"	"c.1100C>T"	"r.(?)"	"p.(Pro367Leu)"	""
"0000534702"	"00022054"	"30"	"1063"	"0"	"1063"	"0"	"c.1063C>T"	"r.(?)"	"p.(Arg355Cys)"	""
"0000534704"	"00022054"	"30"	"605"	"0"	"605"	"0"	"c.605G>A"	"r.(?)"	"p.(Arg202Lys)"	""
"0000652485"	"00022054"	"50"	"1063"	"0"	"1063"	"0"	"c.1063C>T"	"r.(?)"	"p.(Arg355Cys)"	""
"0000690255"	"00022054"	"70"	"1115"	"2"	"1115"	"2"	"c.1115+2T>C"	"r.spl?"	"p.?"	""
"0000763110"	"00022054"	"70"	"1402"	"0"	"1402"	"0"	"c.1402T>C"	"r.(?)"	"p.(Cys468Arg)"	""
"0000851910"	"00022054"	"50"	"1007"	"0"	"1007"	"0"	"c.1007C>T"	"r.(?)"	"p.(Thr336Ile)"	""
"0000851911"	"00022054"	"30"	"796"	"0"	"796"	"0"	"c.796C>T"	"r.(?)"	"p.(Leu266=)"	""
"0000888329"	"00022054"	"50"	"130"	"0"	"131"	"0"	"c.130_131del"	"r.(?)"	"p.(Gly45Glnfs*8)"	""
"0000888330"	"00022054"	"50"	"128"	"0"	"128"	"0"	"c.128del"	"r.(?)"	"p.(Arg43Hisfs*5)"	""
"0000888331"	"00022054"	"50"	"127"	"0"	"127"	"0"	"c.127C>A"	"r.(?)"	"p.(Arg43=)"	""
"0000949070"	"00022054"	"30"	"1063"	"0"	"1063"	"0"	"c.1063C>T"	"r.(?)"	"p.(Arg355Cys)"	""
"0000978186"	"00022054"	"50"	"1000"	"0"	"1000"	"0"	"c.1000C>G"	"r.(?)"	"p.(Arg334Gly)"	""
"0001052987"	"00022054"	"50"	"10381"	"0"	"10381"	"0"	"c.*8854G>A"	"r.(=)"	"p.(=)"	""
"0001052988"	"00022054"	"50"	"866"	"0"	"866"	"0"	"c.866C>G"	"r.(?)"	"p.(Ala289Gly)"	""
"0001064906"	"00022054"	"50"	"1422"	"0"	"1422"	"0"	"c.1422G>A"	"r.(?)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}"	"{{variantid}}"
"0000001439"	"0000019236"
"0000230656"	"0000472231"
"0000295796"	"0000652485"
"0000362736"	"0000763110"