### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = UBE2T)
# 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}}"
"UBE2T"	"ubiquitin-conjugating enzyme E2T (putative)"	"1"	"q32.1"	"unknown"	"NC_000001.10"	"UD_132319231660"	""	"https://www.LOVD.nl/UBE2T"	"Fanconi anemia mutation databases homepage (Rockefeller University) <http://www.rockefeller.edu/fanconi/>"	"1"	"25009"	"29089"	"610538"	"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.\r\nWe gratefully acknowledge the efforts of <b><i>Arleen Auerbach</i></b> curating the variant linked to Fanconi Anemia (until end 2019)."	""	"g"	"https://databases.lovd.nl/shared/refseq/UBE2T_codingDNA.html"	"1"	""	"<a href=\"http://www.rockefeller.edu/fanconi/\" target=\"_blank\"><img src=\"docs/Logo_RockefellerUniversity.gif\" width=\"60\" ></a><b><big>  A Fanconi anemia mutation database</big></b>.<BR>\r\n<FORM action=\"\" id=\"SelectGeneFANC\" method=\"get\" style=\"margin : 0px;\" onsubmit=\"document.location.href=(document.location.href.replace(\'UBE2T\', $(this).children(\'select\').val())); return false;\">\r\n<SELECT name=\"select_db\" onchange=\"$(this).parent().submit();\">\r\n<OPTION value=\"FANCA\">FANCA - Fanconi anemia complementation group A (FANCA)</OPTION>\r\n<OPTION value=\"FANCB\">FANCB - Fanconi anemia complementation group B (FANCB)</OPTION>\r\n<OPTION value=\"FANCC\">FANCC - Fanconi anemia complementation group C (FANCC)</OPTION>\r\n<OPTION value=\"BRCA2\">FANCD1 - Fanconi anemia complementation group D1 (BRCA2)</OPTION>\r\n<OPTION value=\"FANCD2\">FANCD2 - Fanconi anemia complementation group D2 (FANCD2)</OPTION>\r\n<OPTION value=\"FANCE\">FANCE - Fanconi anemia complementation group E (FANCE)</OPTION>\r\n<OPTION value=\"FANCF\">FANCF - Fanconi anemia complementation group F (FANCF)</OPTION>\r\n<OPTION value=\"FANCG\">FANCG - Fanconi anemia complementation group G (FANCG)</OPTION>\r\n<OPTION value=\"FANCI\">FANCI - Fanconi anemia complementation group I (FANCI)</OPTION>\r\n<OPTION value=\"BRIP1\">FANCJ - Fanconi anemia complementation group J (BRIP1)</OPTION>\r\n<OPTION value=\"FANCL\">FANCL - Fanconi anemia complementation group L (FANCL)</OPTION>\r\n<OPTION value=\"FANCM\">FANCM - Fanconi anemia complementation group M (FANCM)</OPTION>\r\n<OPTION value=\"PALB2\">FANCN - Fanconi anemia complementation group N (PALB2)</OPTION>\r\n<OPTION value=\"RAD51C\">FANCO - Fanconi anemia complementation group O (RAD51C)</OPTION>\r\n<OPTION value=\"SLX4\">FANCP - Fanconi anemia complementation group P (SLX4)</OPTION>\r\n<OPTION value=\"ERCC4\">FANCQ - Fanconi anemia complementation group Q (ERCC4)</OPTION>\r\n<OPTION value=\"RAD51\">FANCR - Fanconi anemia complementation group R (RAD51)</OPTION>\r\n<OPTION value=\"BRCA1\">FANCS - Fanconi anemia complementation group S (BRCA1)</OPTION>\r\n<OPTION value=\"UBE2T\" selected>FANCT - Fanconi anemia complementation group T (UBE2T)</OPTION>\r\n<OPTION value=\"XRCC2\">FANCU - Fanconi anemia complementation group U (XRCC2)</OPTION>\r\n<OPTION value=\"MAD2L2\">FANCV - Fanconi anemia complementation group V (MAD2L2)</OPTION>\r\n<OPTION value=\"RFWD3\">FANCW - Fanconi anemia complementation group W (RFWD3)</OPTION>\r\n</SELECT><INPUT type=\"submit\" value=\"Switch\"></FORM>"	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2020-07-21 08:06:56"	"00006"	"2017-12-06 17:29:50"


## 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}}"
"00022262"	"UBE2T"	"ubiquitin-conjugating enzyme E2T (putative)"	"001"	"NM_014176.3"	""	"NP_054895.1"	""	""	""	"-136"	"772"	"594"	"202311094"	"202300785"	""	"0000-00-00 00:00:00"	""	""


## 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}}"
"04301"	"FANCT"	"Fanconi anemia, complementation group T (FANCT)"	"AR"	"616435"	""	""	""	"00006"	"2015-07-19 11:41:26"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"UBE2T"	"04301"


## Individuals ## Do not remove or alter this header ##
## Count = 3
"{{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}}"
"00046580"	""	""	""	"1"	""	"00006"	"{PMID:Hira 2015:26046368}; {DOI:Hira 2015:0.1016/j.ajhg.2015.04.022}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"no"	"Japan"	">25y"	"0"	""	""	""	""
"00046581"	""	""	""	"1"	""	"00006"	"{PMID:Hira 2015:26046368}; {DOI:Hira 2015:0.1016/j.ajhg.2015.04.022}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"no"	"Japan"	"08y"	"0"	""	""	""	""
"00047511"	""	""	""	"1"	""	"01372"	"{PMID:Rickman 2015:26119737}, {DOI:Rickman 2015:10.1016/j.celrep.2015.06.014}"	"2-generation family, 1 affected, unaffected heterozygous  carrier parents"	"M"	"no"	""	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}"	"{{diseaseid}}"
"00046580"	"04301"
"00046581"	"04301"
"00047511"	"04301"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 04301
## Count = 3
"{{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}}"
"0000034262"	"04301"	"00046580"	"00006"	"Isolated (sporadic)"	"25y"	"see paper; FA phenotype, malformations, hematological abnormalities (hematopoietic stem cell transplantation), chromosome fragility lymphocytes, ..."	""	""	""	""	""	""	""	""	""
"0000034263"	"04301"	"00046581"	"00006"	"Isolated (sporadic)"	""	"see paper; FA phenotype, malformations, hematological abnormalities (hematopoietic stem cell transplantation), chromosome fragility lymphocytes, ..."	""	""	""	""	""	""	""	""	""
"0000034715"	"04301"	"00047511"	"00006"	"Isolated (sporadic)"	""	"see paper; at birth bilateral radial aplasia,\r\nabsent thumbs, microcephaly, micrognathia, cafe au lait spots, absent left kidney, elevated chromosomal breakage in peripheral blood samples treated with DEB, ..."	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 3
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000046689"	"00046580"	"1"	"00006"	"00006"	"2015-07-19 12:16:28"	"00006"	"2015-07-19 12:38:57"	"arrayCGH;SEQ;SEQ-NG"	"DNA"	""	""
"0000046690"	"00046581"	"1"	"00006"	"00006"	"2015-07-19 12:47:28"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000047619"	"00047511"	"1"	"01372"	"01372"	"2015-08-24 03:58:19"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000046689"	"LGR6"
"0000046689"	"UBE2T"
"0000046690"	"UBE2T"


## 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}}"
"0000074551"	"21"	"90"	"1"	"202304879"	"202304879"	"subst"	"4.0944E-6"	"00006"	"UBE2T_000001"	"g.202304879G>C"	""	"{PMID:Hira 2015:26046368}; {DOI:Hira 2015:0.1016/j.ajhg.2015.04.022}, {OMIM610538:0001}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.202335751G>C"	""	"pathogenic"	""
"0000074552"	"11"	"90"	"1"	"202288580"	"202309770"	"del"	"0"	"00006"	"UBE2T_000002"	"g.202288580_202309770del"	""	"{PMID:Hira 2015:26046368}; {DOI:Hira 2015:0.1016/j.ajhg.2015.04.022}"	""	""	"23 kb deletion merging LRG6 and UBE2T (opposite sense)"	"Germline"	"yes"	""	"0"	""	""	"g.202319452_202340642del"	""	"pathogenic"	""
"0000074553"	"1"	"90"	"1"	"202304879"	"202304879"	"subst"	"4.0944E-6"	"00006"	"UBE2T_000001"	"g.202304879G>C"	""	"{PMID:Hira 2015:26046368}; {DOI:Hira 2015:0.1016/j.ajhg.2015.04.022}, {OMIM610538:0001}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.202335751G>C"	""	"pathogenic"	""
"0000074554"	"2"	"90"	"1"	"202304112"	"202304112"	"subst"	"0"	"00006"	"UBE2T_000003"	"g.202304112C>T"	""	"{PMID:Hira 2015:26046368}; {DOI:Hira 2015:0.1016/j.ajhg.2015.04.022}, {OMIM610538:0002}"	""	"c.180+5G>A"	"bone marrow fibroblasts have small fraction UBE2T-transcripts with skipped exon 2"	"Unknown"	"yes"	""	"0"	""	""	"g.202334984C>T"	""	"pathogenic"	""
"0000076363"	"11"	"90"	"1"	"202301874"	"202304466"	"del"	"0"	"01372"	"UBE2T_000004"	"g.202301874_202304466del"	""	"{PMID:Rickman 2015:26119737}, {DOI:Rickman 2015:10.1016/j.celrep.2015.06.014}"	""	""	"AluYa5 mediated deletion; allele also reported in Virts 2015 (PMID:26085575); no detectable UBE2T protein"	"Germline"	"yes"	""	"0"	""	""	"g.202332746_202335338del"	""	"pathogenic"	""
"0000076364"	"21"	"90"	"1"	"202301874"	"202304466"	"dup"	"0"	"01372"	"UBE2T_000005"	"g.202301874_202304466dup"	""	"{PMID:Rickman 2015:26119737}, {DOI:Rickman 2015:10.1016/j.celrep.2015.06.014}"	""	""	"AluYa5 mediated duplication; nonsense mediated decay of mRNA, residual protein if any p.A157Cfs*7; allele also reported in Virts  2015 (PMID: 26085575)"	"Germline"	"yes"	""	"0"	""	""	"g.202332746_202335338dup"	""	"pathogenic"	""
"0000973573"	"0"	"50"	"1"	"202302654"	"202302654"	"subst"	"4.06567E-6"	"01804"	"UBE2T_000006"	"g.202302654A>G"	""	""	""	"UBE2T(NM_014176.4):c.209T>C (p.(Phe70Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000973574"	"0"	"50"	"1"	"202304124"	"202304124"	"subst"	"0.000303847"	"01804"	"UBE2T_000007"	"g.202304124G>C"	""	""	""	"UBE2T(NM_014176.4):c.172C>G (p.(Pro58Ala))"	"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 UBE2T
## 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}}"
"0000074551"	"00022262"	"90"	"4"	"0"	"4"	"0"	"c.4C>G"	"r.(?)"	"p.(Gln2Glu)"	"2"
"0000074552"	"00022262"	"90"	"-65"	"1253"	"12977"	"0"	"c.-65+1253_*12383del"	"r.0?"	"p.0?"	"1i_7_"
"0000074553"	"00022262"	"90"	"4"	"0"	"4"	"0"	"c.4C>G"	"r.(?)"	"p.(Gln2Glu)"	"2"
"0000074554"	"00022262"	"90"	"179"	"5"	"179"	"5"	"c.179+5G>A"	"r.110_179del"	"p.Gln37Argfs*49"	"3i"
"0000076363"	"00022262"	"90"	"110"	"-280"	"468"	"264"	"c.110-280_468+264del"	"r.-64_468del"	"p.0?"	"1i_6i"
"0000076364"	"00022262"	"90"	"110"	"-280"	"468"	"264"	"c.110-280_468+264dup"	"r.-64_468dup"	"p.(Ala157Cysfs*7?)"	"1i_6i"
"0000973573"	"00022262"	"50"	"209"	"0"	"209"	"0"	"c.209T>C"	"r.(?)"	"p.(Phe70Ser)"	""
"0000973574"	"00022262"	"50"	"172"	"0"	"172"	"0"	"c.172C>G"	"r.(?)"	"p.(Pro58Ala)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}"	"{{variantid}}"
"0000046689"	"0000074551"
"0000046689"	"0000074552"
"0000046690"	"0000074553"
"0000046690"	"0000074554"
"0000047619"	"0000076363"
"0000047619"	"0000076364"