### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COL27A1) # 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}}" "COL27A1" "collagen, type XXVII, alpha 1" "9" "q33.1" "unknown" "NG_034260.1" "UD_132465711956" "" "https://www.LOVD.nl/COL27A1" "" "1" "22986" "85301" "608461" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/COL27A1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-01-31 08:56:59" "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}}" "00005503" "COL27A1" "collagen, type XXVII, alpha 1" "001" "NM_032888.2" "" "NP_116277.2" "" "" "" "1" "5583" "5583" "116918231" "117072975" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "00624" "RNS" "Raine syndrome" "AR" "259775" "" "" "autosomal recessive" "00006" "2014-09-25 23:29:40" "00006" "2025-02-06 14:20:13" "03840" "STLS" "Steel syndrome (STLS)" "AR" "615155" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05688" "ODCD" "odontochondrodysplasia (ODCD, osteochondrodysplasia)" "AR" "184260" "" "" "" "00006" "2020-01-31 09:10:03" "00006" "2021-01-13 11:07:22" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "COL27A1" "03840" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{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}}" "00276331" "" "" "" "3" "" "00006" "{PMID:Gonzaga-Jauregui 2015:24986830}" "2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents" "M" "" "Puerto Rico" "" "0" "" "" "Hispanic" "FamPatII1" "00276332" "" "" "00276331" "1" "" "00006" "{PMID:Gonzaga-Jauregui 2015:24986830}" "PatII2" "F" "" "Puerto Rico" "" "0" "" "" "Hispanic" "FamPatII2" "00276333" "" "" "00276331" "1" "" "00006" "{PMID:Gonzaga-Jauregui 2015:24986830}" "PatII3" "F" "" "Puerto Rico" "" "0" "" "" "Hispanic" "FamPatII3" "00276334" "" "" "" "1" "" "00006" "{PMID:Belbini 2017:28895531}" "" "" "" "United States" "" "0" "" "" "Puerto Rico, Hispanic" "" "00276335" "" "" "" "1" "" "00006" "{PMID:Belbini 2017:28895531}" "" "" "" "United States" "" "0" "" "" "Puerto Rico, Hispanic" "" "00276336" "" "" "" "1" "" "00006" "{PMID:Belbini 2017:28895531}" "" "" "" "United States" "" "0" "" "" "Puerto Rico, Hispanic" "" "00276337" "" "" "" "1" "" "00006" "{PMID:Belbini 2017:28895531}" "" "" "" "United States" "" "0" "" "" "Puerto Rico, Hispanic" "" "00276338" "" "" "" "1" "" "00006" "{PMID:Belbini 2017:28895531}" "" "" "" "United States" "" "0" "" "" "Puerto Rico, Hispanic" "" "00276339" "" "" "" "34" "" "00006" "{PMID:Belbini 2017:28895531}" "analysis 34 heterozygote carriers" "" "" "United States" "" "0" "" "" "Puerto Rico, Hispanic" "" "00276340" "" "" "" "1" "" "00006" "{PMID:Kotabagi 2017:28276056}" "" "F" "no" "India" "" "0" "" "" "" "" "00276341" "" "" "" "1" "" "00006" "{PMID:Gariballa 2017:28322503}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "United Arab Emirates" "" "0" "" "" "" "" "00276344" "" "" "" "1" "" "00006" "{PMID:Amlie-Wolf 2020:31903681}" "" "M" "" "United States" "" "0" "" "" "Puerto Rico, Hispanic" "Pat1" "00276345" "" "" "" "1" "" "00006" "{PMID:Amlie-Wolf 2020:31903681}" "" "F" "" "United States" "" "0" "" "" "Puerto Rico, Hispanic" "Pat2" "00276346" "" "" "" "1" "" "00006" "{PMID:Amlie-Wolf 2020:31903681}" "" "M" "" "United States" "" "0" "" "" "Puerto Rico, Hispanic" "Pat3" "00276347" "" "" "" "1" "" "00006" "{PMID:Pölsler 2020:31913554}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Syria" "" "0" "" "" "" "" "00289379" "" "" "" "1" "" "03614" "" "" "" "" "China" "" "0" "" "" "" "" "00301707" "" "" "" "1" "" "00006" "{PMID:Maddirevula 2019:30237576}" "" "" "" "" "" "0" "" "" "" "17-5919" "00462260" "" "" "" "3" "" "00006" "{PMID:Acevedo 2015:25928877}" "4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Brazil" "" "0" "" "" "" "Fam1PatIV4/5/6" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00276331" "05688" "00276332" "05688" "00276333" "05688" "00276334" "05688" "00276335" "05688" "00276336" "05688" "00276337" "05688" "00276338" "05688" "00276339" "00198" "00276340" "05688" "00276341" "05688" "00276344" "05688" "00276345" "05688" "00276346" "05688" "00276347" "05688" "00289379" "03840" "00301707" "00198" "00462260" "00624" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00624, 03840, 05688 ## Count = 18 "{{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}}" "0000210920" "05688" "00276331" "00006" "Familial, autosomal recessive" "14y" "short stature, scoliosis, carpal coalition, dislocated hips, radial head location, no pes caves;mild midface hypoplasia with slightly anteverted nares, bilateral fifth finger clinodactyly, decreased adduction of the hips bilaterally, pes planus; decreased elbow extension bilaterally, thoracic levoscoliosis, bilateral capitate, hamate bone coalitions, no intellectual disability" "" "" "" "" "" "" "" "" "STLS" "osteochondrodysplasia" "" "0000210921" "05688" "00276332" "00006" "Familial, autosomal recessive" "12y" "short stature, scoliosis, carpal coalition, dislocated hips, no radial head location, no pes caveslmild midface hypoplasia with slightly anteverted nares, bilateral fifth finger clinodactyly, decreased adduction of the hips bilaterally, pes planus, lumbar lordosis, mild thoracic scoliosis, bilateral capitate, hamate bone coalitions, no intellectual disability" "" "" "" "" "" "" "" "" "STLS" "osteochondrodysplasia" "" "0000210922" "05688" "00276333" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STLS" "osteochondrodysplasia" "" "0000210923" "05688" "00276334" "00006" "Familial, autosomal recessive" "" "see paper; ..., short stature, congenital hip dislocation" "" "" "" "" "" "" "" "" "STLS" "osteochondrodysplasia" "" "0000210924" "05688" "00276335" "00006" "Familial, autosomal recessive" "" "see paper; ..., short stature, congenital hip dislocation" "" "" "" "" "" "" "" "" "STLS" "osteochondrodysplasia" "" "0000210925" "05688" "00276336" "00006" "Familial, autosomal recessive" "" "see paper; ..., short stature, congenital hip dislocation" "" "" "" "" "" "" "" "" "STLS" "osteochondrodysplasia" "" "0000210926" "05688" "00276337" "00006" "Familial, autosomal recessive" "" "see paper; ..., short stature, congenital hip dislocation" "" "" "" "" "" "" "" "" "STLS" "osteochondrodysplasia" "" "0000210927" "05688" "00276338" "00006" "Familial, autosomal recessive" "" "see paper; ..., short stature, leg length discrepancy" "" "" "" "" "" "" "" "" "STLS" "osteochondrodysplasia" "" "0000210928" "00198" "00276339" "00006" "Familial, autosomal dominant" "<55y" "13/34 spinal degeneration ranging from severe (multiple level cord compression and neurologic symptoms necessitating surgery) to moderate (lower back pain managed with physical therapy or medication), 8/34 scoliosis, 13/34 arthritis, 10/34 lumbar spine degeneration, 5/34 cervical stenosis" "" "" "" "" "" "" "" "" "" "healthy" "" "0000210929" "05688" "00276340" "00006" "Familial, autosomal recessive" "5y" "see paper; ..., facial dysmorphism, short stature, carpal coalition, dislocation of radial heads, bilateral hip dislocation, scoliosis, vertical talus" "" "" "" "" "" "" "" "" "STLS" "osteochondrodysplasia" "" "0000210930" "05688" "00276341" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., bilateral hip dislocations, short upper limbs, normal developmental milestones, delayed speech, flat midface, short upturned nose, thin lips, mild rhizomelic shortening upper limbs with contractures right elbow, genu valgum with mild bowing femur; 2y6m severe bilateral sensorineural hearing loss" "" "" "" "" "" "" "" "" "STLS" "osteochondrodysplasia" "" "0000210931" "05688" "00276344" "00006" "Familial, autosomal recessive" "" "radial head dislocation elbow; short stature; scoliosis" "" "" "" "" "" "" "" "" "STLS" "osteochondrodysplasia" "" "0000210932" "05688" "00276345" "00006" "Familial, autosomal recessive" "" "short stature; scoliosis" "" "" "" "" "" "" "" "" "STLS" "osteochondrodysplasia" "" "0000210933" "05688" "00276346" "00006" "Familial, autosomal recessive" "" "radial head dislocation elbow; scoliosis" "" "" "" "" "" "" "" "" "STLS" "osteochondrodysplasia" "" "0000210934" "05688" "00276347" "00006" "Familial, autosomal recessive" "09y" "see paper; ..., short stature, massive malalignment large joints, kyphoscoliosis, hearing loss, typical facial dysmorphism, bilateral colobomata irides, choroido‐retinae with unilateral affection macula" "" "" "" "" "" "" "" "" "STLS" "osteochondrodysplasia" "" "0000222992" "03840" "00289379" "03614" "Familial, autosomal recessive" "14y" "webbed neck, low hairline, cubitus valgus, and congenital scoliosis" "" "14y" "" "" "" "" "" "" "Steel syndrome" "Adolescent Idiopathic Scoliosis" "" "0000228805" "00198" "00301707" "00006" "Familial, autosomal recessive" "5y" "global developmental delay and abnormal skeletal findings. He has history of hip dislocation and inguinal hernia. His parents are first cousin and he has a similarly affected brother. Examination revealed dysmorphic facies (prominent forehead, depressed nasal bridge, smooth philtrum, conical teeth and low-set ears), scoliosis and undescended testicles." "" "" "" "" "" "" "" "" "" "" "" "0000349760" "00624" "00462260" "00006" "Familial, autosomal recessive" "" "see paper; ..., hypoplastic amelogenesis imperfecta (abnormal dental enamel formation), mild facial dysmorphism, no other obvious skeletal/growth abnormalities; mild hypophosphataemia and soft tissue ectopic mineralization" "" "" "" "" "" "" "" "" "RNS" "Raine syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000277477" "00276331" "1" "00006" "00006" "2020-01-31 10:08:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000277478" "00276332" "1" "00006" "00006" "2020-01-31 10:08:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000277479" "00276333" "1" "00006" "00006" "2020-01-31 10:08:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000277480" "00276334" "1" "00006" "00006" "2020-01-31 10:08:04" "" "" "SEQ" "DNA" "" "" "0000277481" "00276335" "1" "00006" "00006" "2020-01-31 10:08:04" "" "" "SEQ" "DNA" "" "" "0000277482" "00276336" "1" "00006" "00006" "2020-01-31 10:08:04" "" "" "SEQ" "DNA" "" "" "0000277483" "00276337" "1" "00006" "00006" "2020-01-31 10:08:04" "" "" "SEQ" "DNA" "" "" "0000277484" "00276338" "1" "00006" "00006" "2020-01-31 10:08:04" "" "" "SEQ" "DNA" "" "" "0000277485" "00276339" "1" "00006" "00006" "2020-01-31 10:08:04" "" "" "SEQ" "DNA" "" "" "0000277486" "00276340" "1" "00006" "00006" "2020-01-31 10:08:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000277487" "00276341" "1" "00006" "00006" "2020-01-31 10:08:04" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000277490" "00276344" "1" "00006" "00006" "2020-01-31 11:31:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000277491" "00276345" "1" "00006" "00006" "2020-01-31 11:31:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000277492" "00276346" "1" "00006" "00006" "2020-01-31 11:31:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000277493" "00276347" "1" "00006" "00006" "2020-01-31 11:37:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290550" "00289379" "1" "03614" "03614" "2020-03-08 04:19:45" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000302831" "00301707" "1" "00006" "00006" "2020-05-22 17:20:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000463892" "00462260" "1" "00006" "00006" "2025-02-07 09:28:54" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{geneid}}" "0000277477" "COL27A1" "0000277478" "COL27A1" "0000277479" "COL27A1" "0000277480" "COL27A1" "0000277481" "COL27A1" "0000277482" "COL27A1" "0000277483" "COL27A1" "0000277484" "COL27A1" "0000277485" "COL27A1" "0000277486" "COL27A1" "0000277487" "COL27A1" "0000277490" "COL27A1" "0000277491" "COL27A1" "0000277492" "COL27A1" "0000277493" "COL27A1" "0000290550" "COL27A1" "0000302831" "COL27A1" "0000463892" "FAM20C" ## 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 = 48 "{{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}}" "0000632304" "3" "90" "9" "116958257" "116958257" "subst" "2.4369E-5" "00006" "COL27A1_000010" "g.116958257G>C" "" "{PMID:Gonzaga-Jauregui 2015:24986830}" "" "" "" "Germline" "yes" "rs140950220" "0" "" "" "g.114195977G>C" "" "pathogenic (recessive)" "" "0000632305" "3" "90" "9" "116958257" "116958257" "subst" "2.4369E-5" "00006" "COL27A1_000010" "g.116958257G>C" "" "{PMID:Gonzaga-Jauregui 2015:24986830}" "" "" "" "Germline" "yes" "rs140950220" "0" "" "" "g.114195977G>C" "" "pathogenic (recessive)" "" "0000632306" "3" "90" "9" "116958257" "116958257" "subst" "2.4369E-5" "00006" "COL27A1_000010" "g.116958257G>C" "" "{PMID:Gonzaga-Jauregui 2015:24986830}" "" "" "" "Germline" "yes" "rs140950220" "0" "" "" "g.114195977G>C" "" "pathogenic (recessive)" "" "0000632307" "3" "90" "9" "116958257" "116958257" "subst" "2.4369E-5" "00006" "COL27A1_000010" "g.116958257G>C" "" "{PMID:Belbini 2017:28895531}" "" "" "" "Germline" "" "rs140950220" "0" "" "" "g.114195977G>C" "" "pathogenic (recessive)" "" "0000632308" "3" "90" "9" "116958257" "116958257" "subst" "2.4369E-5" "00006" "COL27A1_000010" "g.116958257G>C" "" "{PMID:Belbini 2017:28895531}" "" "" "" "Germline" "" "rs140950220" "0" "" "" "g.114195977G>C" "" "pathogenic (recessive)" "" "0000632309" "3" "90" "9" "116958257" "116958257" "subst" "2.4369E-5" "00006" "COL27A1_000010" "g.116958257G>C" "" "{PMID:Belbini 2017:28895531}" "" "" "" "Germline" "" "rs140950220" "0" "" "" "g.114195977G>C" "" "pathogenic (recessive)" "" "0000632310" "3" "90" "9" "116958257" "116958257" "subst" "2.4369E-5" "00006" "COL27A1_000010" "g.116958257G>C" "" "{PMID:Belbini 2017:28895531}" "" "" "" "Germline" "" "rs140950220" "0" "" "" "g.114195977G>C" "" "pathogenic (recessive)" "" "0000632311" "3" "90" "9" "116958257" "116958257" "subst" "2.4369E-5" "00006" "COL27A1_000010" "g.116958257G>C" "" "{PMID:Belbini 2017:28895531}" "" "" "" "Germline" "" "rs140950220" "0" "" "" "g.114195977G>C" "" "pathogenic (recessive)" "" "0000632312" "1" "90" "9" "116958257" "116958257" "subst" "2.4369E-5" "00006" "COL27A1_000010" "g.116958257G>C" "" "{PMID:Belbini 2017:28895531}" "" "" "" "Germline" "" "rs140950220" "0" "" "" "g.114195977G>C" "" "pathogenic (dominant)" "" "0000632313" "21" "90" "9" "116958287" "116958287" "subst" "0" "00006" "COL27A1_000011" "g.116958287C>T" "" "{PMID:Kotabagi 2017:28276056}" "" "" "" "Germline" "" "" "0" "" "" "g.114196007C>T" "" "pathogenic (recessive)" "" "0000632314" "11" "90" "9" "116930356" "116930363" "del" "0" "00006" "COL27A1_000009" "g.116930356_116930363del" "" "{PMID:Kotabagi 2017:28276056}" "" "" "" "Germline" "" "" "0" "" "" "g.114168076_114168083del" "" "pathogenic (recessive)" "" "0000632315" "3" "90" "9" "117033006" "117033006" "subst" "0" "00006" "COL27A1_000006" "g.117033006A>G" "" "{PMID:Gariballa 2017:28322503}" "" "" "" "Germline" "" "" "0" "" "" "g.114270726A>G" "" "pathogenic (recessive)" "" "0000632322" "3" "90" "9" "116958257" "116958257" "subst" "2.4369E-5" "00006" "COL27A1_000010" "g.116958257G>C" "" "{PMID:Amlie-Wolf 2020:31903681}" "" "" "" "Germline" "" "rs140950220" "0" "" "" "g.114195977G>C" "" "pathogenic (recessive)" "" "0000632323" "3" "90" "9" "116958257" "116958257" "subst" "2.4369E-5" "00006" "COL27A1_000010" "g.116958257G>C" "" "{PMID:Amlie-Wolf 2020:31903681}" "" "" "" "Germline" "" "rs140950220" "0" "" "" "g.114195977G>C" "" "pathogenic (recessive)" "" "0000632324" "3" "90" "9" "116958257" "116958257" "subst" "2.4369E-5" "00006" "COL27A1_000010" "g.116958257G>C" "" "{PMID:Amlie-Wolf 2020:31903681}" "" "" "" "Germline" "" "rs140950220" "0" "" "" "g.114195977G>C" "" "pathogenic (recessive)" "" "0000632325" "1" "90" "9" "116925025" "116925025" "del" "0" "00006" "COL27A1_000007" "g.116925025del" "" "{PMID:Pölsler 2020:31913554}" "" "" "ACMG PVS1, PM2, PM3" "Germline" "" "" "0" "" "" "g.114162745del" "" "pathogenic (recessive)" "ACMG" "0000632326" "2" "90" "9" "117014914" "117014914" "del" "0" "00006" "COL27A1_000008" "g.117014914del" "" "{PMID:Pölsler 2020:31913554}" "" "" "ACMG PVS1, PM2, PM3" "Germline" "" "" "0" "" "" "g.114252634del" "" "pathogenic (recessive)" "ACMG" "0000647234" "11" "50" "9" "116958281" "116958281" "subst" "0.000674227" "03614" "COL27A1_000012" "g.116958281C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.114196001C>T" "" "likely benign" "" "0000647235" "21" "70" "9" "117070009" "117070009" "subst" "0.00152314" "03614" "COL27A1_000013" "g.117070009A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.114307729A>G" "" "likely pathogenic" "" "0000666188" "3" "70" "9" "117052503" "117052503" "subst" "0" "00006" "COL27A1_000014" "g.117052503G>A" "" "{PMID:Maddirevula 2019:30237576}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.114290223G>A" "" "likely pathogenic (recessive)" "ACMG" "0000678508" "0" "50" "9" "117014919" "117014919" "subst" "0" "02327" "COL27A1_000015" "g.117014919G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678509" "0" "70" "9" "117054425" "117054425" "subst" "0" "02327" "COL27A1_000016" "g.117054425C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000861353" "0" "70" "9" "116971982" "116971982" "subst" "8.12123E-6" "01804" "COL27A1_000018" "g.116971982G>A" "" "" "" "COL27A1(NM_032888.2):c.2296G>A (p.(Gly766Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000949171" "0" "30" "9" "116929987" "116929987" "subst" "0.00439416" "01804" "COL27A1_000019" "g.116929987G>A" "" "" "" "COL27A1(NM_032888.2):c.152G>A (p.(Arg51Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949172" "0" "50" "9" "116930253" "116930253" "subst" "4.62893E-5" "01804" "COL27A1_000020" "g.116930253G>A" "" "" "" "COL27A1(NM_032888.2):c.418G>A (p.(Gly140Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949173" "0" "30" "9" "117044843" "117044843" "subst" "0.0121596" "01804" "COL27A1_000021" "g.117044843C>T" "" "" "" "COL27A1(NM_032888.2):c.3878C>T (p.(Thr1293Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965142" "0" "30" "9" "117050790" "117050790" "subst" "0.00963345" "01804" "COL27A1_000022" "g.117050790G>A" "" "" "" "COL27A1(NM_032888.2):c.4043G>A (p.(Arg1348Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978363" "0" "30" "9" "116930139" "116930139" "subst" "6.92047E-5" "01804" "COL27A1_000023" "g.116930139C>T" "" "" "" "COL27A1(NM_032888.4):c.304C>T (p.(Leu102=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978364" "0" "30" "9" "116930880" "116930880" "subst" "0.00134422" "01804" "COL27A1_000024" "g.116930880C>T" "" "" "" "COL27A1(NM_032888.4):c.1045C>T (p.(Arg349Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978365" "0" "30" "9" "116931145" "116931145" "subst" "0.000666033" "01804" "COL27A1_000025" "g.116931145C>T" "" "" "" "COL27A1(NM_032888.4):c.1310C>T (p.(Pro437Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978366" "0" "50" "9" "116958266" "116958266" "subst" "0.000259932" "01804" "COL27A1_000026" "g.116958266G>A" "" "" "" "COL27A1(NM_032888.4):c.2098G>A (p.(Gly700Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978367" "0" "50" "9" "116958282" "116958282" "subst" "1.21861E-5" "01804" "COL27A1_000027" "g.116958282C>T" "" "" "" "COL27A1(NM_032888.4):c.2114C>T (p.(Pro705Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978368" "0" "50" "9" "117051015" "117051015" "subst" "0.000232083" "01804" "COL27A1_000028" "g.117051015C>A" "" "" "" "COL27A1(NM_032888.4):c.4078C>A (p.(Pro1360Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997454" "0" "50" "9" "116930076" "116930076" "subst" "3.2599E-5" "01804" "COL27A1_000029" "g.116930076C>T" "" "" "" "COL27A1(NM_032888.2):c.241C>T (p.(Arg81Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997455" "0" "30" "9" "116968054" "116968054" "subst" "0" "01804" "COL27A1_000030" "g.116968054G>C" "" "" "" "COL27A1(NM_032888.2):c.2185G>C (p.(Glu729Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997456" "0" "50" "9" "117002539" "117002539" "subst" "0" "01804" "COL27A1_000031" "g.117002539C>T" "" "" "" "COL27A1(NM_032888.2):c.2767C>T (p.(Pro923Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997457" "0" "50" "9" "117005823" "117005823" "subst" "2.44684E-5" "01804" "COL27A1_000032" "g.117005823G>A" "" "" "" "COL27A1(NM_032888.2):c.2917G>A (p.(Gly973Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997458" "0" "30" "9" "117012937" "117012937" "subst" "0.000117769" "01804" "COL27A1_000033" "g.117012937G>A" "" "" "" "COL27A1(NM_032888.2):c.3022G>A (p.(Val1008Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997459" "0" "50" "9" "117044779" "117044779" "subst" "2.60498E-5" "01804" "COL27A1_000034" "g.117044779C>T" "" "" "" "COL27A1(NM_032888.2):c.3814C>T (p.(Pro1272Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997460" "0" "50" "9" "117064372" "117064372" "subst" "4.06263E-6" "01804" "COL27A1_000035" "g.117064372G>A" "" "" "" "COL27A1(NM_032888.2):c.4856G>A (p.(Gly1619Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001023957" "3" "30" "9" "116930205" "116930205" "subst" "0.000452002" "00006" "COL27A1_000036" "g.116930205C>G" "" "{PMID:Acevedo 2015:25928877}" "" "" "" "Germline" "" "rs149948860" "0" "" "" "g.114167925C>G" "" "likely benign" "" "0001037142" "0" "50" "9" "116925024" "116925024" "subst" "0" "01804" "COL27A1_000037" "g.116925024C>G" "" "" "" "COL27A1(NM_032888.4):c.92C>G (p.(Ser31Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037143" "0" "50" "9" "116931437" "116931437" "subst" "6.09127E-5" "01804" "COL27A1_000038" "g.116931437G>C" "" "" "" "COL27A1(NM_032888.4):c.1602G>C (p.(Lys534Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037144" "0" "30" "9" "116997869" "116997869" "subst" "4.06062E-5" "01804" "COL27A1_000039" "g.116997869G>A" "" "" "" "COL27A1(NM_032888.4):c.2566-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037145" "0" "50" "9" "117026642" "117026642" "subst" "0" "01804" "COL27A1_000040" "g.117026642G>A" "" "" "" "COL27A1(NM_032888.4):c.3203G>A (p.(Arg1068Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037146" "0" "50" "9" "117052377" "117052377" "subst" "8.15408E-5" "01804" "COL27A1_000041" "g.117052377C>T" "" "" "" "COL27A1(NM_032888.4):c.4246C>T (p.(Arg1416Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037147" "0" "30" "9" "117052497" "117052497" "subst" "5.70008E-5" "01804" "COL27A1_000042" "g.117052497C>A" "" "" "" "COL27A1(NM_032888.4):c.4261-7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037148" "0" "30" "9" "117066900" "117066900" "subst" "0" "01804" "COL27A1_000043" "g.117066900C>A" "" "" "" "COL27A1(NM_032888.4):c.4885C>A (p.(Leu1629Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 COL27A1 ## Count = 48 "{{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}}" "0000632304" "00005503" "90" "2089" "0" "2089" "0" "c.2089G>C" "r.(?)" "p.(Gly697Arg)" "" "0000632305" "00005503" "90" "2089" "0" "2089" "0" "c.2089G>C" "r.(?)" "p.(Gly697Arg)" "" "0000632306" "00005503" "90" "2089" "0" "2089" "0" "c.2089G>C" "r.(?)" "p.(Gly697Arg)" "" "0000632307" "00005503" "90" "2089" "0" "2089" "0" "c.2089G>C" "r.(?)" "p.(Gly697Arg)" "" "0000632308" "00005503" "90" "2089" "0" "2089" "0" "c.2089G>C" "r.(?)" "p.(Gly697Arg)" "" "0000632309" "00005503" "90" "2089" "0" "2089" "0" "c.2089G>C" "r.(?)" "p.(Gly697Arg)" "" "0000632310" "00005503" "90" "2089" "0" "2089" "0" "c.2089G>C" "r.(?)" "p.(Gly697Arg)" "" "0000632311" "00005503" "90" "2089" "0" "2089" "0" "c.2089G>C" "r.(?)" "p.(Gly697Arg)" "" "0000632312" "00005503" "90" "2089" "0" "2089" "0" "c.2089G>C" "r.(?)" "p.(Gly697Arg)" "" "0000632313" "00005503" "90" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Arg707*)" "" "0000632314" "00005503" "90" "521" "0" "528" "0" "c.521_528del" "r.(?)" "p.(Cys174Serfs*34)" "" "0000632315" "00005503" "90" "3556" "-2" "3556" "-2" "c.3556-2A>G" "r.[3556_3565del,3556_3561del,3502_2717del]" "p.?" "" "0000632322" "00005503" "90" "2089" "0" "2089" "0" "c.2089G>C" "r.(?)" "p.(Gly697Arg)" "" "0000632323" "00005503" "90" "2089" "0" "2089" "0" "c.2089G>C" "r.(?)" "p.(Gly697Arg)" "" "0000632324" "00005503" "90" "2089" "0" "2089" "0" "c.2089G>C" "r.(?)" "p.(Gly697Arg)" "" "0000632325" "00005503" "90" "93" "0" "93" "0" "c.93del" "r.(?)" "p.(Phe32Leufs*71)" "" "0000632326" "00005503" "90" "3075" "0" "3075" "0" "c.3075del" "r.(?)" "p.(Lys1026Argfs*33)" "" "0000647234" "00005503" "50" "2113" "0" "2113" "0" "c.2113C>T" "r.(?)" "p.(Pro705Ser)" "7" "0000647235" "00005503" "70" "5168" "0" "5168" "0" "c.5168A>G" "r.(?)" "p.(Asn1723Ser)" "59" "0000666188" "00005503" "70" "4261" "-1" "4261" "-1" "c.4261-1G>A" "r.spl" "p.?" "" "0000678508" "00005503" "50" "3080" "0" "3080" "0" "c.3080G>A" "r.(?)" "p.(Gly1027Glu)" "" "0000678509" "00005503" "70" "4519" "0" "4519" "0" "c.4519C>T" "r.(?)" "p.(Arg1507Ter)" "" "0000861353" "00005503" "70" "2296" "0" "2296" "0" "c.2296G>A" "r.(?)" "p.(Gly766Ser)" "" "0000949171" "00005503" "30" "152" "0" "152" "0" "c.152G>A" "r.(?)" "p.(Arg51Gln)" "" "0000949172" "00005503" "50" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Gly140Arg)" "" "0000949173" "00005503" "30" "3878" "0" "3878" "0" "c.3878C>T" "r.(?)" "p.(Thr1293Met)" "" "0000965142" "00005503" "30" "4043" "0" "4043" "0" "c.4043G>A" "r.(?)" "p.(Arg1348Gln)" "" "0000978363" "00005503" "30" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(=)" "" "0000978364" "00005503" "30" "1045" "0" "1045" "0" "c.1045C>T" "r.(?)" "p.(Arg349Cys)" "" "0000978365" "00005503" "30" "1310" "0" "1310" "0" "c.1310C>T" "r.(?)" "p.(Pro437Leu)" "" "0000978366" "00005503" "50" "2098" "0" "2098" "0" "c.2098G>A" "r.(?)" "p.(Gly700Arg)" "" "0000978367" "00005503" "50" "2114" "0" "2114" "0" "c.2114C>T" "r.(?)" "p.(Pro705Leu)" "" "0000978368" "00005503" "50" "4078" "0" "4078" "0" "c.4078C>A" "r.(?)" "p.(Pro1360Thr)" "" "0000997454" "00005503" "50" "241" "0" "241" "0" "c.241C>T" "r.(?)" "p.(Arg81Trp)" "" "0000997455" "00005503" "30" "2185" "0" "2185" "0" "c.2185G>C" "r.(?)" "p.(Glu729Gln)" "" "0000997456" "00005503" "50" "2767" "0" "2767" "0" "c.2767C>T" "r.(?)" "p.(Pro923Ser)" "" "0000997457" "00005503" "50" "2917" "0" "2917" "0" "c.2917G>A" "r.(?)" "p.(Gly973Ser)" "" "0000997458" "00005503" "30" "3022" "0" "3022" "0" "c.3022G>A" "r.(?)" "p.(Val1008Met)" "" "0000997459" "00005503" "50" "3814" "0" "3814" "0" "c.3814C>T" "r.(?)" "p.(Pro1272Ser)" "" "0000997460" "00005503" "50" "4856" "0" "4856" "0" "c.4856G>A" "r.(?)" "p.(Gly1619Glu)" "" "0001023957" "00005503" "30" "370" "0" "370" "0" "c.370C>G" "r.(?)" "p.(Leu124Val)" "" "0001037142" "00005503" "50" "92" "0" "92" "0" "c.92C>G" "r.(?)" "p.(Ser31Trp)" "" "0001037143" "00005503" "50" "1602" "0" "1602" "0" "c.1602G>C" "r.(?)" "p.(Lys534Asn)" "" "0001037144" "00005503" "30" "2566" "-10" "2566" "-10" "c.2566-10G>A" "r.(=)" "p.(=)" "" "0001037145" "00005503" "50" "3203" "0" "3203" "0" "c.3203G>A" "r.(?)" "p.(Arg1068Gln)" "" "0001037146" "00005503" "50" "4246" "0" "4246" "0" "c.4246C>T" "r.(?)" "p.(Arg1416Trp)" "" "0001037147" "00005503" "30" "4261" "-7" "4261" "-7" "c.4261-7C>A" "r.(=)" "p.(=)" "" "0001037148" "00005503" "30" "4885" "0" "4885" "0" "c.4885C>A" "r.(?)" "p.(Leu1629Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000277477" "0000632304" "0000277478" "0000632305" "0000277479" "0000632306" "0000277480" "0000632307" "0000277481" "0000632308" "0000277482" "0000632309" "0000277483" "0000632310" "0000277484" "0000632311" "0000277485" "0000632312" "0000277486" "0000632313" "0000277486" "0000632314" "0000277487" "0000632315" "0000277490" "0000632322" "0000277491" "0000632323" "0000277492" "0000632324" "0000277493" "0000632325" "0000277493" "0000632326" "0000290550" "0000647234" "0000290550" "0000647235" "0000302831" "0000666188" "0000463892" "0001023957"