### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CCDC134)
# 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}}"
"CCDC134"	"coiled-coil domain containing 134"	"22"	"q13.2"	"unknown"	"NG_068430.1"	"UD_136086080457"	""	"https://www.LOVD.nl/CCDC134"	"Osteogenesis Imperfecta & Ehlers-Danlos syndrome variant databases <http://www.le.ac.uk/genetics/collagen/>\r\nOsteogenesis Imperfecta Federation Europe (OIFE) <https://oife.org>"	"1"	"26185"	"79879"	"618788"	"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>.\r\nThis database is supported by <a href=\"https://oife.org/\" target=\"_blank\"><img src=\"gfx/LOVD_logo_OIFE.png\" width=\"120\"> Osteogenesis Imperfecta Federation Europe (OIFE)</a>"	""	"g"	"https://databases.lovd.nl/shared/refseq/CCDC134_codingDNA.html"	"1"	""	"<img src=\"gfx/LOVD_logo_IDdatabase.png\"><br><b>Osteogenesis Imperfecta Variant Database</b>\r\n<form action=\"\" id=\"SelectGeneDBOI\" method=\"get\" style=\"margin : 0px;\" onsubmit=\"document.location.href=(document.location.href.replace(\'CCDC134\', $(this).children(\'select\').val())); return false;\">\r\n<select name=\"select_db\" onchange=\"$(this).parent().submit();\">\r\n<option value=\"BMP1\" selected>BMP1 (bone morphogenetic protein 1)</option>\r\n<option value=\"CCDC134\">CCDC134 (coiled-coil domain containing 134)</option>\r\n<option value=\"COL1A1\">COL1A1 (collagen type I alpha 1 chain)</option>\r\n<option value=\"COL1A2\">COL1A2 (collagen type I alpha 2 chain)</option>\r\n<option value=\"CREB3L1\">CREB3L1 (cAMP responsive element binding protein 3 like 1)</option>\r\n<option value=\"CRTAP\">CRTAP (cartilage associated protein)</option>\r\n<option value=\"FAM46A\">FAM46A/TENT5A (family with sequence similarity 46 member A)</option>\r\n<option value=\"FKBP10\">FKBP10 (FKBP prolyl isomerase 10)</option>\r\n<option value=\"IFITM5\">IFITM5 (interferon induced transmembrane protein 5)</option>\r\n<option value=\"KDELR2\">KDELR2 (KDEL endoplasmic reticulum protein retention receptor 2)</option>\r\n<option value=\"LRP5\">LRP5 (LDL receptor related protein 5)</option>\r\n<option value=\"MBTPS2\">MBTPS2 (membrane bound transcription factor peptidase, site 2)</option>\r\n<option value=\"MESDC2\">MESDC2/MESD (mesoderm development candidate 2)</option>\r\n<option value=\"P3H1\">P3H1 (prolyl 3-hydroxylase 1)</option>\r\n<option value=\"P4HB\">P4HB (prolyl 4-hydroxylase subunit beta)</option>\r\n<option value=\"PLOD2\">PLOD2 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 2)</option>\r\n<option value=\"PLS3\">PLS3 (plastin 3)</option>\r\n<option value=\"PPIB\">PPIB (peptidylprolyl isomerase B)</option>\r\n<option value=\"SEC24D\">SEC24D (SEC24 homolog D, COPII coat complex component)</option>\r\n<option value=\"SERPINF1\">SERPINF1 (serpin family F member 1)</option>\r\n<option value=\"SERPINH1\">SERPINH1 (serpin family H member 1)</option>\r\n<option value=\"SP7\">SP7 (Sp7 transcription factor)</option>\r\n<option value=\"SPARC\">SPARC (secreted protein acidic and cysteine rich)</option>\r\n<option value=\"TMEM38B\">TMEM38B (transmembrane protein 38B)</option>\r\n<option value=\"WNT1\">WNT1 (Wnt family member 1)</option>\r\n</select><input type=\"submit\" value=\"Switch OI gene\">\r\n</form>"	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00085"	"2022-04-05 12:49:01"	"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}}"
"00004550"	"CCDC134"	"coiled-coil domain containing 134"	"001"	"NM_024821.2"	""	"NP_079097.1"	""	""	""	"-109"	"1169"	"690"	"42196678"	"42222306"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"05296"	"OI"	"osteogenesis imperfecta"	""	""	""	""	""	"00006"	"2017-06-26 22:59:16"	"00006"	"2025-09-23 21:54:31"
"06906"	"DEE"	"encephalopathy, developmental and epileptic"	""	""	""	""	""	"00006"	"2022-04-07 09:24:23"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"CCDC134"	"05296"


## 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}}"
"00303282"	""	""	""	"2"	""	"00006"	"{PMID:Dubail 2020:32181939}"	"2-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives"	"M"	""	"Morocco"	""	"0"	""	""	""	"Pat1"
"00303283"	""	""	"00303282"	"1"	""	"00006"	"{PMID:Dubail 2020:32181939}"	"sister"	"F"	""	"Morocco"	""	"0"	""	""	""	"Pat2"
"00303284"	""	""	""	"1"	""	"00006"	"{PMID:Dubail 2020:32181939}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"Morocco"	""	"0"	""	""	""	"Pat3"
"00438701"	""	""	""	"1"	""	"00006"	"{PMID:Hamdan 2017:29100083}"	"WGS analysis 197 individuals with unexplained DEE (unaffected parents)"	""	""	"Canada"	""	"0"	""	"pharmaco-resistant seizures"	""	"HSJ0742"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{individualid}}"	"{{diseaseid}}"
"00303282"	"05296"
"00303283"	"05296"
"00303284"	"05296"
"00438701"	"06906"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 05296, 06906
## Count = 4
"{{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}}"
"0000230358"	"05296"	"00303282"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"osteogenesis imperfecta"
"0000230359"	"05296"	"00303283"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"osteogenesis imperfecta"
"0000230360"	"05296"	"00303284"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"osteogenesis imperfecta"
"0000328604"	"06906"	"00438701"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"developmental and epileptic encephalopathy"


## 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}}"
"0000304406"	"00303282"	"1"	"00006"	"00006"	"2020-06-09 13:37:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000304407"	"00303283"	"1"	"00006"	"00006"	"2020-06-09 13:37:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000304408"	"00303284"	"1"	"00006"	"00006"	"2020-06-09 13:37:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000440183"	"00438701"	"1"	"00006"	"00006"	"2023-10-21 19:20:17"	"00006"	"2023-10-21 22:17:41"	"SEQ;SEQ-NG"	"DNA"	""	"WGS"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000304406"	"CCDC134"
"0000304407"	"CCDC134"
"0000304408"	"CCDC134"


## 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 = 12
"{{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}}"
"0000329060"	"0"	"50"	"22"	"42195260"	"42195260"	"subst"	"0.000113762"	"01804"	"MEI1_000003"	"g.42195260G>T"	""	""	""	"MEI1(NM_152513.3):c.3782G>T (p.(Cys1261Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.41799256G>T"	""	"VUS"	""
"0000667846"	"3"	"90"	"22"	"42204896"	"42204896"	"subst"	"4.06108E-6"	"00006"	"CCDC134_000001"	"g.42204896T>C"	""	"{PMID:Dubail 2020:32181939}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.41808892T>C"	""	"pathogenic (recessive)"	""
"0000667847"	"3"	"90"	"22"	"42204896"	"42204896"	"subst"	"4.06108E-6"	"00006"	"CCDC134_000001"	"g.42204896T>C"	""	"{PMID:Dubail 2020:32181939}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.41808892T>C"	""	"pathogenic (recessive)"	""
"0000667848"	"3"	"90"	"22"	"42204896"	"42204896"	"subst"	"4.06108E-6"	"00006"	"CCDC134_000001"	"g.42204896T>C"	""	"{PMID:Dubail 2020:32181939}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.41808892T>C"	""	"pathogenic (recessive)"	""
"0000866874"	"0"	"10"	"22"	"42209326"	"42209326"	"subst"	"0.000840575"	"02329"	"CCDC134_000002"	"g.42209326G>A"	""	""	""	"CCDC134(NM_024821.5):c.369G>A (p.P123=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000895776"	"0"	"30"	"22"	"42205959"	"42205959"	"subst"	"0"	"02329"	"CCDC134_000003"	"g.42205959C>T"	""	""	""	"CCDC134(NM_024821.5):c.180C>T (p.H60=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000895777"	"0"	"10"	"22"	"42221714"	"42221714"	"subst"	"0.00316738"	"02329"	"CCDC134_000004"	"g.42221714A>G"	""	""	""	"CCDC134(NM_024821.5):c.577A>G (p.T193A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000936341"	"0"	"50"	"22"	"42196771"	"42196771"	"subst"	"0"	"00006"	"CCDC134_000005"	"g.42196771G>A"	""	"{PMID:Hamdan 2017:29100083}"	""	"NM_024821 (pos+1)"	""	"De novo"	""	""	"0"	""	""	""	""	"VUS"	""
"0001006159"	"0"	"30"	"22"	"42204918"	"42204918"	"subst"	"1.21821E-5"	"02329"	"CCDC134_000006"	"g.42204918C>A"	""	""	""	"CCDC134(NM_024821.5):c.24C>A (p.A8=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001006160"	"0"	"10"	"22"	"42209786"	"42209786"	"subst"	"0.00127098"	"02329"	"CCDC134_000007"	"g.42209786A>T"	""	""	""	"CCDC134(NM_024821.5):c.524A>T (p.D175V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001006161"	"0"	"30"	"22"	"42221698"	"42221698"	"subst"	"0.000255865"	"02329"	"CCDC134_000008"	"g.42221698T>A"	""	""	""	"CCDC134(NM_024821.5):c.565-4T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001043903"	"0"	"50"	"22"	"42209312"	"42209312"	"subst"	"0"	"01804"	"CCDC134_000009"	"g.42209312G>A"	""	""	""	"CCDC134(NM_024821.5):c.355G>A (p.(Val119Met))"	"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 CCDC134
## Count = 12
"{{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}}"
"0000329060"	"00004550"	"50"	"-1527"	"0"	"-1527"	"0"	"c.-1527G>T"	"r.(?)"	"p.(=)"	""
"0000667846"	"00004550"	"90"	"2"	"0"	"2"	"0"	"c.2T>C"	"r.2u>c"	"p.0"	""
"0000667847"	"00004550"	"90"	"2"	"0"	"2"	"0"	"c.2T>C"	"r.2u>c"	"p.0"	""
"0000667848"	"00004550"	"90"	"2"	"0"	"2"	"0"	"c.2T>C"	"r.2u>c"	"p.0"	""
"0000866874"	"00004550"	"10"	"369"	"0"	"369"	"0"	"c.369G>A"	"r.(?)"	"p.(Pro123=)"	""
"0000895776"	"00004550"	"30"	"180"	"0"	"180"	"0"	"c.180C>T"	"r.(?)"	"p.(His60=)"	""
"0000895777"	"00004550"	"10"	"577"	"0"	"577"	"0"	"c.577A>G"	"r.(?)"	"p.(Thr193Ala)"	""
"0000936341"	"00004550"	"50"	"-17"	"1"	"-17"	"1"	"c.-17+1G>A"	"r.spl?"	"p.?"	""
"0001006159"	"00004550"	"30"	"24"	"0"	"24"	"0"	"c.24C>A"	"r.(?)"	"p.(=)"	""
"0001006160"	"00004550"	"10"	"524"	"0"	"524"	"0"	"c.524A>T"	"r.(?)"	"p.(Asp175Val)"	""
"0001006161"	"00004550"	"30"	"565"	"-4"	"565"	"-4"	"c.565-4T>A"	"r.spl?"	"p.?"	""
"0001043903"	"00004550"	"50"	"355"	"0"	"355"	"0"	"c.355G>A"	"r.(?)"	"p.(Val119Met)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}"	"{{variantid}}"
"0000304406"	"0000667846"
"0000304407"	"0000667847"
"0000304408"	"0000667848"
"0000440183"	"0000936341"