### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CTGF)
# 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}}"
"CTGF" "connective tissue growth factor" "6" "q23.2" "unknown" "NC_000006.11" "UD_132084545456" "" "https://www.LOVD.nl/CCN2" "" "1" "2500" "1490" "121009" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from CTGF to CCN2" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-11-20 10:42:52" "00006" "2025-11-20 12:12:54"
## 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}}"
"00005843" "CTGF" "connective tissue growth factor" "001" "NM_001901.2" "" "NP_001892.1" "" "" "" "-206" "2138" "1050" "132272518" "132269316" "" "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"
"07200" "KMD" "kyphomelic dysplasia" "AR" "211350" "" "" "" "00006" "2025-11-20 10:43:53" "" ""
"07201" "SEMDLSL" "spondyloepimetaphyseal dysplasia, Li-Shao-Li type" "AD" "621099" "" "" "" "00006" "2025-11-20 10:45:13" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"CTGF" "07200"
"CTGF" "07201"
## 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}}"
"00448533" "" "" "" "1" "" "02958" "{PMID:Jacob 2025:39706863}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "yes" "India" "" "0" "" "" "" "patient"
"00448534" "" "" "" "1" "" "02958" "" "" "" "" "" "" "" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}" "{{diseaseid}}"
"00448533" "00198"
"00448534" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 07200, 07201
## Count = 2
"{{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}}"
"0000337713" "00198" "00448533" "02958" "Familial, autosomal recessive" "" "kyphomelic dysplasia" "" "" "" "" "" "" "" "" "KMD" "kyphomelic dysplasia" ""
"0000337715" "00198" "00448534" "02958" "Familial, autosomal recessive" "" "Kyphomelia" "" "" "" "" "" "" "" "" "" "" ""
## 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}}"
"0000450119" "00448533" "1" "02958" "02958" "2024-04-01 06:45:34" "" "" "SEQ;SEQ-NG" "RNA" "Blood" ""
"0000450120" "00448534" "1" "02958" "02958" "2024-04-01 06:59:29" "" "" "SEQ;SEQ-NG" "RNA" "Blood" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{geneid}}"
"0000450119" "CTGF"
"0000450120" "CTGF"
## 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 = 5
"{{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}}"
"0000267171" "0" "10" "6" "132271980" "132271980" "subst" "0.999985" "02325" "CTGF_000003" "g.132271980T>G" "" "" "" "CCN2(NM_001901.4):c.219A>C (p.P73=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131950840T>G" "" "benign" ""
"0000267172" "0" "10" "6" "132271959" "132271959" "subst" "0.999993" "02325" "CTGF_000002" "g.132271959T>G" "" "" "" "CCN2(NM_001901.4):c.240A>C (p.L80=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131950819T>G" "" "benign" ""
"0000267173" "0" "10" "6" "132271952" "132271952" "subst" "0.999993" "02325" "CTGF_000001" "g.132271952G>C" "" "" "" "CCN2(NM_001901.4):c.247C>G (p.H83D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131950812G>C" "" "benign" ""
"0000972075" "3" "70" "6" "132271530" "132271530" "subst" "0" "02958" "CTGF_000005" "g.132271530C>T" "" "{PMID:Jacob 2025:39706863}" "" "" "" "Germline" "yes" "" "0" "" "" "g.131950390C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000972076" "3" "70" "6" "132270670" "132270677" "del" "0" "02958" "CTGF_000004" "g.132270670_132270677del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.131949530_131949537del" "" "VUS" "ACMG"
## 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 CTGF
## Count = 5
"{{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}}"
"0000267171" "00005843" "10" "219" "0" "219" "0" "c.219=" "r.(=)" "p.(Pro73=)" ""
"0000267172" "00005843" "10" "240" "0" "240" "0" "c.240=" "r.(=)" "p.(Leu80=)" ""
"0000267173" "00005843" "10" "247" "0" "247" "0" "c.247=" "r.(=)" "p.(Asp83=)" ""
"0000972075" "00005843" "70" "443" "0" "443" "0" "c.443G>A" "r.(?)" "p.(Cys148Tyr)" "1"
"0000972076" "00005843" "70" "779" "0" "786" "0" "c.779_786del" "r.(?)" "p.(Pro260Leufs*7)" "4"
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{variantid}}"
"0000450119" "0000972075"
"0000450120" "0000972076"