### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = C1orf127) # 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}}" "C1orf127" "chromosome 1 open reading frame 127" "1" "p36.22" "unknown" "NC_000001.10" "UD_132319017041" "" "https://www.LOVD.nl/CIROZ" "" "1" "26730" "148345" "619700" "1" "1" "1" "1" "Alias C1orf127.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from C1orf127 to CIROZ" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-02-09 09:52:23" "00006" "2025-02-10 14:22:36" ## 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}}" "00003608" "C1orf127" "chromosome 1 open reading frame 127" "001" "NM_001170754.1" "" "NP_001164225.1" "" "" "" "1" "2761" "2472" "11042094" "11006530" "" "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}}" "00332" "CILD" "dyskinesia, ciliary, primary (CILD)" "" "" "" "" "" "00006" "2014-02-21 12:58:05" "00006" "2015-03-31 17:58:20" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05128" "HTX" "heterotaxy, visceral (HTX, situs inversus/situs ambiguus)" "" "" "" "" "" "00006" "2016-01-31 12:35:57" "" "" "07152" "HTX14" "heterotaxy, visceral, type 14" "AR" "621080" "" "" "" "00006" "2025-02-09 09:53:46" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "C1orf127" "05128" "C1orf127" "07152" ## Individuals ## Do not remove or alter this header ## ## Count = 21 "{{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}}" "00390029" "" "" "" "1" "" "00000" "{PMID:Ruberto 2020:32507954}" "" "?" "" "Italy" "" "0" "" "" "" "16" "00462316" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "Pat1" "00462317" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems; 2-generation family, 1 affected, unaffected heterozygous EP400 carrier parents" "" "" "United Arab Emirates" "" "0" "" "" "" "Pat2" "00462441" "" "" "" "3" "" "00006" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents, pregnancy terminated" "M" "no" "United Kingdom (Great Britain)" "<0d" "0" "" "" "" "Fam1PatII1" "00462442" "" "" "00462441" "1" "" "00006" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "sister, pregnancy terminated" "F" "no" "United Kingdom (Great Britain)" "<0d" "0" "" "" "" "Fam1PatII3" "00462443" "" "" "00462441" "1" "" "00006" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "sister, pregnancy terminated" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam1PatII4" "00462444" "" "" "" "2" "" "00006" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "2-generation family, affectedsister/brother, unaffected heterozygous carrier parents" "F" "yes" "Lebanon" "" "0" "" "" "" "Fam2PatII1" "00462445" "" "" "00462444" "1" "" "00006" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "brother" "M" "yes" "Lebanon" "" "0" "" "" "" "Fam2PatII2" "00462446" "" "" "" "1" "" "00006" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Saudi Arabia" "67d" "0" "" "" "" "Fam3PatII2" "00462447" "" "" "" "4" "" "00006" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "2-generation family, affected mother/3 duagthers, unaffected heterozygous carrier parents" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam4PatI1" "00462448" "" "" "00462447" "1" "" "00006" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "daughter" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam4PatII4" "00462449" "" "" "00462447" "1" "" "00006" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "daughter" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam4PatII6" "00462450" "" "" "00462447" "1" "" "00006" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "daughter" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam4PatII7" "00462451" "" "" "" "1" "" "00006" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam5PatII3" "00462452" "" "" "" "3" "" "00006" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents" "F" "yes" "United Arab Emirates" "" "0" "" "" "" "Fam6PatII2" "00462453" "" "" "00462452" "1" "" "00006" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "nephew" "M" "yes" "United Arab Emirates" "" "0" "" "" "" "Fam6PatII4" "00462454" "" "" "00462452" "1" "" "00006" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "niece" "F" "yes" "United Arab Emirates" "9m" "0" "" "" "" "Fam6PatII6" "00462455" "" "" "" "1" "" "00006" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "yes" "Syria" "<0d" "0" "" "" "" "Fam7PatII1" "00462456" "" "" "" "1" "" "00006" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Saudi Arabia" "5m" "0" "" "" "" "Fam8PatII4" "00462457" "" "" "" "1" "" "00006" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "United States" "" "0" "" "" "Guatemala" "Fam9PatII1" "00462458" "" "" "" "1" "" "00006" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "United States" "" "0" "" "" "Guatemala" "Fam10PatII5" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 21 "{{individualid}}" "{{diseaseid}}" "00390029" "04214" "00462316" "00332" "00462317" "00332" "00462441" "05128" "00462442" "05128" "00462443" "05128" "00462444" "05128" "00462445" "05128" "00462446" "05128" "00462447" "05128" "00462448" "05128" "00462449" "05128" "00462450" "05128" "00462451" "05128" "00462452" "05128" "00462453" "05128" "00462454" "05128" "00462455" "05128" "00462456" "05128" "00462457" "05128" "00462458" "05128" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00332, 04214, 05128, 07152 ## Count = 21 "{{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}}" "0000283569" "04214" "00390029" "00000" "Unknown" "" "Very pale optic disk, chorioretinal atrophy in macular area, highly altered fundus" "" "" "" "" "" "" "" "Retinal dystrophy" "" "0000349815" "00332" "00462316" "00006" "Unknown" "" "heterotaxy, asplenia, midline liver, pulmonary stenosis, interrupted inferior vena cava, bilateral superior vena cava, and right aortic arch" "" "" "" "" "" "" "" "" "primary ciliary dyskinesia" "0000349816" "00332" "00462317" "00006" "Unknown" "" "dextrocardia, pulmonary stenosis, respiratory infections; family members with congenital heart anomalies" "" "" "" "" "" "" "" "" "primary ciliary dyskinesia" "0000349940" "05128" "00462441" "00006" "Familial, autosomal recessive" "" "see paper; ..., prenancy terminated 17gw, situs ambiguus; bilateral trilobed lungs, gut malrotation; double outlet right ventricle, ventricular septal defect, mitral atreasia, hypolastic left ventricle; cystic hygroma; mildy arched palate" "" "" "" "" "" "" "" "HTX14" "heterotaxy" "0000349941" "05128" "00462442" "00006" "Familial, autosomal recessive" "" "see paper; ..., prenancy terminated 18gw; situs ambiguus; bilateral bilobed lungs, gut malrotation; hypoplastic left heart syndrome, aortic atresia;" "" "" "" "" "" "" "" "HTX14" "heterotaxy" "0000349942" "05128" "00462443" "00006" "Familial, autosomal recessive" "" "see paper; ..., situs solitus ; normal position organs; no cardiac anomalies;" "" "" "" "" "" "" "" "HTX14" "heterotaxy" "0000349943" "05128" "00462444" "00006" "Familial, autosomal recessive" "" "see paper; ..., situs inversus; complete reversal position organs; small ventricular septal defect (closed sponteanously); dysmorphism; craniosynostosis, digital anomalies consistent with de novo TWIST1 microdeletion (Saethre-Chotzen syndrome)" "" "" "" "" "" "" "" "HTX14" "heterotaxy" "0000349944" "05128" "00462445" "00006" "Familial, autosomal recessive" "" "see paper; ..., situs solitus ; normal position organs; no cardiac anomalies;" "" "" "" "" "" "" "" "HTX14" "heterotaxy" "0000349945" "05128" "00462446" "00006" "Familial, autosomal recessive" "" "see paper; ..., 67d-deceased; situs ambiguus; atrial isomerism; left atrial isomerism, unbalanced aventricular septal defect with small left ventricle, severe left ventricleot obstruction, common atrioventricular valve with severe “multiple jet” regurgitation and pulmonary valve regurgitation; bilateral hydrocele; left inguinal hernia" "" "" "" "" "" "" "" "HTX14" "heterotaxy" "0000349946" "05128" "00462447" "00006" "Familial, autosomal recessive" "" "see paper; ..., situs inversus; complete reversal position organs; asymptomatic dextrocardia; large left renal angiomyolipoma; left renal sinus arterio-vascular malformation" "" "" "" "" "" "" "" "HTX14" "heterotaxy" "0000349947" "05128" "00462448" "00006" "Familial, autosomal recessive" "" "see paper; ..., situs ambiguus; horseshoe kidney; no cardiac anomalies;" "" "" "" "" "" "" "" "HTX14" "heterotaxy" "0000349948" "05128" "00462449" "00006" "Familial, autosomal recessive" "" "see paper; ..., situs ambiguus; normal position organs, small accessory spleen; no cardiac anomalies;" "" "" "" "" "" "" "" "HTX14" "heterotaxy" "0000349949" "05128" "00462450" "00006" "Familial, autosomal recessive" "" "see paper; ..., situs ambiguus; complete reversal with levocardia; left isomerism, levocardia, large atrial septal defect, interrupted inferior vena cava, bilateral superior vena cava, dilated coronary sinus; hydronephrosis; cyanosis; abnormality prenatal developmental birth; down slanting palpebral fissures; low set ears, micrognathia" "" "" "" "" "" "" "" "HTX14" "heterotaxy" "0000349950" "05128" "00462451" "00006" "Familial, autosomal recessive" "" "see paper; ..., situs ambiguus; dextrocardia, lung left isomerism, polysplenia; auricular septum defect, partial anomalous pulmonary venous return, bilateral superior vena cava, ventricular septum defect (repaired), mild tricuspid, mitral valve insufficiency; recurrent respiratory infections and asthma; high forehead; relatively small posteriorly rotated ears; right eye prominent (mild exophthalmos); bilateral 5th finger clinodactyly; mild pectus excavatum; pulmonary hypertension and features; right mainstem bronchus bronchomalacia; bilateral grade 2 hydronephrosis" "" "" "" "" "" "" "" "HTX14" "heterotaxy" "0000349951" "05128" "00462452" "00006" "Familial, autosomal recessive" "" "see paper; ..., right isomerim; midline liver, absent spleen, bilateral right atrial appendages; unbalanced complete atrioventricular canal with hypoplastic left ventricle, double outlet right ventricle with l-malposed great arteries, common atrium, moderate subvalvular pulmonary stenosis, small patent ductus arteriosus, interrupted inferior vena cava, bilateral superior vena cava, pulmonary veins connected to right-sided atrial mass;" "" "" "" "" "" "" "" "HTX14" "heterotaxy" "0000349952" "05128" "00462453" "00006" "Familial, autosomal recessive" "" "see paper; ..., situs ambiguus; isolated dextrocardia; lleft transposition great arteries, large perimembranous ventricular septal defect, pulmonary atresia; mild dysmorphic features, retrognathia, depressed nasal bridge; midsternal scars previous surgeries, pectus excavatum; acquired hypothyrodisim" "" "" "" "" "" "" "" "HTX14" "heterotaxy" "0000349953" "05128" "00462454" "00006" "Familial, autosomal recessive" "" "see paper; ..., 9m-deceased; situs solitus ; normal position organs; taussig-bing anomaly, transposition great arteries, subpulmonary ventricular septal defect, atrial septal defect, double outlet right ventricle, side-by-side great arteries, yocoub type E coronaries, hypoplastic transverse aortic arch, preductal coA, patent ductus arteriosus dependent lower body perfusion, restrictive patent arterial duct;" "" "" "" "" "" "" "" "HTX14" "heterotaxy" "0000349954" "05128" "00462455" "00006" "Familial, autosomal recessive" "" "see paper; ..., prenancy terminated 23gw; situs ambiguus; complex cardiac heterotaxy;" "" "" "" "" "" "" "" "HTX14" "heterotaxy" "0000349955" "05128" "00462456" "00006" "Familial, autosomal recessive" "" "see paper; ..., 5m-deceased; situs ambiguus; midline liver with right-sided stomach compatible with abdominal situs inversus, evident present luq spleen; congenital heart disease, double outlet right ventricle, mirror-image heart, atrioventricular canal status post sternotomy, pulmonary atresia banding; persistent hyperkalemia reviewed by nephrology endocrine team; resolved acute kidney injury; elevated liver enzymes" "" "" "" "" "" "" "" "HTX14" "heterotaxy" "0000349956" "05128" "00462457" "00006" "Familial, autosomal recessive" "" "see paper; ..., situs inversus; right-sided stomach, midline liver, spleen not definitely visualized, mild right renal central pelvocaliectasis; double outlet right ventricle, complete atrioventricular canal, D malposed great vessels, moderate reverse oriented patent ductus arteriosus, interrupted inferior vena cava with azygous continuation to R superior vena cava, hepatic veins drain to left sided atrium" "" "" "" "" "" "" "" "HTX14" "heterotaxy" "0000349957" "05128" "00462458" "00006" "Familial, autosomal recessive" "" "see paper; ..., situs inversus; right-sided stomach, midline liver, right-sided spleen, cecum in the left-lower quadrant; dextrocardia, transposition great arteries, pulmonary atresia, patent ductus arteriosus, atrial septal defect, ventricular septal defect, left aortic arch, common origin right innominate and left common carotid arteries; subdural; subpial; subarachnoid hemorrhages; feeding intolerance; episodes of hypoglycemia and lactic acidosis" "" "" "" "" "" "" "" "HTX14" "heterotaxy" ## Screenings ## Do not remove or alter this header ## ## Count = 21 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000391270" "00390029" "1" "00000" "03840" "2021-11-08 12:01:50" "" "" "arrayCGH" "DNA" "" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes" "0000463948" "00462316" "1" "00006" "00006" "2025-02-09 17:26:35" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000463949" "00462317" "1" "00006" "00006" "2025-02-09 17:26:35" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464073" "00462441" "1" "00006" "00006" "2025-02-10 14:19:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000464074" "00462442" "1" "00006" "00006" "2025-02-10 14:19:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000464075" "00462443" "1" "00006" "00006" "2025-02-10 14:19:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000464076" "00462444" "1" "00006" "00006" "2025-02-10 14:19:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000464077" "00462445" "1" "00006" "00006" "2025-02-10 14:19:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000464078" "00462446" "1" "00006" "00006" "2025-02-10 14:19:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000464079" "00462447" "1" "00006" "00006" "2025-02-10 14:19:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000464080" "00462448" "1" "00006" "00006" "2025-02-10 14:19:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000464081" "00462449" "1" "00006" "00006" "2025-02-10 14:19:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000464082" "00462450" "1" "00006" "00006" "2025-02-10 14:19:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000464083" "00462451" "1" "00006" "00006" "2025-02-10 14:19:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000464084" "00462452" "1" "00006" "00006" "2025-02-10 14:19:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000464085" "00462453" "1" "00006" "00006" "2025-02-10 14:19:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000464086" "00462454" "1" "00006" "00006" "2025-02-10 14:19:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000464087" "00462455" "1" "00006" "00006" "2025-02-10 14:19:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000464088" "00462456" "1" "00006" "00006" "2025-02-10 14:19:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000464089" "00462457" "1" "00006" "00006" "2025-02-10 14:19:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS trio" "0000464090" "00462458" "1" "00006" "00006" "2025-02-10 14:19:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000391270" "NMNAT1" ## 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 = 28 "{{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}}" "0000502400" "0" "30" "1" "11009716" "11009716" "subst" "0.000609746" "01943" "C1orf127_000001" "g.11009716C>G" "" "" "" "C1orf127(NM_001170754.1):c.1255G>C (p.D419H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10949659C>G" "" "likely benign" "" "0000653577" "0" "30" "1" "11009855" "11009855" "subst" "0" "01943" "C1orf127_000002" "g.11009855C>T" "" "" "" "C1orf127(NM_001170754.1):c.1116G>A (p.S372=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10949798C>T" "" "likely benign" "" "0000653579" "0" "30" "1" "11017711" "11017711" "subst" "1.21911E-5" "01943" "C1orf127_000003" "g.11017711C>T" "" "" "" "C1orf127(NM_001170754.1):c.655G>A (p.V219I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10957654C>T" "" "likely benign" "" "0000798652" "0" "30" "1" "11024212" "11024212" "subst" "1.626E-5" "01943" "C1orf127_000004" "g.11024212G>A" "" "" "" "C1orf127(NM_001170754.1):c.489C>T (p.S163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000821006" "0" "90" "1" "9200001" "12700000" "del" "0" "00000" "MTHFR_000084" "g.9200001_12700000del" "" "{PMID:Ruberto 2020:32507954}" "" "CGH array deletion in Cr1p36.22 involving NMNAT1 gene," "am apparent homozygous NMNAT1 mutation was found, probably on the other allele" "Unknown" "?" "" "0" "" "" "g.9100001_12500000del" "" "likely pathogenic" "" "0001027577" "3" "50" "1" "11026450" "11026450" "subst" "7.42391E-6" "00006" "C1orf127_000005" "g.11026450G>A" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "" "0" "" "" "g.10966393G>A" "" "VUS" "" "0001027578" "3" "50" "1" "11026450" "11026450" "subst" "7.42391E-6" "00006" "C1orf127_000005" "g.11026450G>A" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "" "0" "" "" "g.10966393G>A" "" "VUS" "" "0001027726" "11" "90" "1" "11036284" "11036284" "subst" "0.000192693" "00006" "C1orf127_000008" "g.11036284G>A" "" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "" "" "ACMG PM3, PP1" "Germline" "yes" "rs780189883" "0" "" "" "g.10976227G>A" "" "pathogenic (recessive)" "ACMG" "0001027727" "11" "90" "1" "11036284" "11036284" "subst" "0.000192693" "00006" "C1orf127_000008" "g.11036284G>A" "" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "" "" "ACMG PM3, PP1" "Germline" "yes" "rs780189883" "0" "" "" "g.10976227G>A" "" "pathogenic (recessive)" "ACMG" "0001027728" "11" "90" "1" "11036284" "11036284" "subst" "0.000192693" "00006" "C1orf127_000008" "g.11036284G>A" "" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "" "" "ACMG PM3, PP1" "Germline" "yes" "rs780189883" "0" "" "" "g.10976227G>A" "" "pathogenic (recessive)" "ACMG" "0001027729" "3" "70" "1" "11026450" "11026450" "subst" "7.42391E-6" "00006" "C1orf127_000005" "g.11026450G>A" "" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "" "" "ACMG PVS1, PM2, PP1" "Germline" "yes" "rs558323413" "0" "" "" "g.10966393G>A" "" "likely pathogenic (recessive)" "ACMG" "0001027730" "3" "70" "1" "11026450" "11026450" "subst" "7.42391E-6" "00006" "C1orf127_000005" "g.11026450G>A" "" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "" "" "ACMG PVS1, PM2, PP1" "Germline" "yes" "rs558323413" "0" "" "" "g.10966393G>A" "" "likely pathogenic (recessive)" "ACMG" "0001027731" "3" "70" "1" "11026450" "11026450" "subst" "7.42391E-6" "00006" "C1orf127_000005" "g.11026450G>A" "" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "" "" "ACMG PVS1, PM2, PP1" "Germline" "yes" "rs558323413" "0" "" "" "g.10966393G>A" "" "likely pathogenic (recessive)" "ACMG" "0001027732" "3" "70" "1" "11026450" "11026450" "subst" "7.42391E-6" "00006" "C1orf127_000005" "g.11026450G>A" "" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "" "" "ACMG PVS1, PM2, PP1" "Germline" "yes" "rs558323413" "0" "" "" "g.10966393G>A" "" "likely pathogenic (recessive)" "ACMG" "0001027733" "3" "70" "1" "11026450" "11026450" "subst" "7.42391E-6" "00006" "C1orf127_000005" "g.11026450G>A" "" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "" "" "ACMG PVS1, PM2, PP1" "Germline" "yes" "rs558323413" "0" "" "" "g.10966393G>A" "" "likely pathogenic (recessive)" "ACMG" "0001027734" "3" "70" "1" "11026450" "11026450" "subst" "7.42391E-6" "00006" "C1orf127_000005" "g.11026450G>A" "" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "" "" "ACMG PVS1, PM2, PP1" "Germline" "yes" "rs558323413" "0" "" "" "g.10966393G>A" "" "likely pathogenic (recessive)" "ACMG" "0001027735" "3" "70" "1" "11026450" "11026450" "subst" "7.42391E-6" "00006" "C1orf127_000005" "g.11026450G>A" "" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "" "" "ACMG PVS1, PM2, PP1" "Germline" "yes" "rs558323413" "0" "" "" "g.10966393G>A" "" "likely pathogenic (recessive)" "ACMG" "0001027736" "3" "70" "1" "11026450" "11026450" "subst" "7.42391E-6" "00006" "C1orf127_000005" "g.11026450G>A" "" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "" "" "ACMG PVS1, PM2, PP1" "Germline" "yes" "rs558323413" "0" "" "" "g.10966393G>A" "" "likely pathogenic (recessive)" "ACMG" "0001027737" "3" "70" "1" "11026450" "11026450" "subst" "7.42391E-6" "00006" "C1orf127_000005" "g.11026450G>A" "" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "" "" "ACMG PVS1, PM2, PP1" "Germline" "yes" "rs558323413" "0" "" "" "g.10966393G>A" "" "likely pathogenic (recessive)" "ACMG" "0001027738" "3" "70" "1" "11026450" "11026450" "subst" "7.42391E-6" "00006" "C1orf127_000005" "g.11026450G>A" "" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "" "" "ACMG PVS1, PM2, PP1" "Germline" "yes" "rs558323413" "0" "" "" "g.10966393G>A" "" "likely pathogenic (recessive)" "ACMG" "0001027739" "3" "70" "1" "11026450" "11026450" "subst" "7.42391E-6" "00006" "C1orf127_000005" "g.11026450G>A" "" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "" "" "ACMG PVS1, PM2, PP1" "Germline" "yes" "rs558323413" "0" "" "" "g.10966393G>A" "" "likely pathogenic (recessive)" "ACMG" "0001027740" "3" "70" "1" "11026450" "11026450" "subst" "7.42391E-6" "00006" "C1orf127_000005" "g.11026450G>A" "" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "" "" "ACMG PVS1, PM2, PP1" "Germline" "yes" "rs558323413" "0" "" "" "g.10966393G>A" "" "likely pathogenic (recessive)" "ACMG" "0001027741" "3" "70" "1" "11026450" "11026450" "subst" "7.42391E-6" "00006" "C1orf127_000005" "g.11026450G>A" "" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "" "" "ACMG PVS1, PM2, PP1" "Germline" "yes" "rs558323413" "0" "" "" "g.10966393G>A" "" "likely pathogenic (recessive)" "ACMG" "0001027742" "3" "70" "1" "11009763" "11009763" "del" "0" "00006" "C1orf127_000006" "g.11009763del" "" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "" "" "ACMG PVS1, PM2, PP1" "Germline" "yes" "rs767673160" "0" "" "" "g.10949706del" "" "likely pathogenic (recessive)" "ACMG" "0001027743" "3" "70" "1" "11009763" "11009763" "del" "0" "00006" "C1orf127_000006" "g.11009763del" "" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "" "" "ACMG PVS1, PM2, PP1" "Germline" "yes" "rs767673160" "0" "" "" "g.10949706del" "" "likely pathogenic (recessive)" "ACMG" "0001027744" "21" "70" "1" "11017789" "11017789" "subst" "0" "00006" "C1orf127_000007" "g.11017789G>A" "" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "" "" "ACMG PVS1, PM2, PP1" "Germline" "yes" "rs1429386746" "0" "" "" "g.10957732G>A" "" "likely pathogenic (recessive)" "ACMG" "0001027745" "21" "70" "1" "11017789" "11017789" "subst" "0" "00006" "C1orf127_000007" "g.11017789G>A" "" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "" "" "ACMG PVS1, PM2, PP1" "Germline" "yes" "rs1429386746" "0" "" "" "g.10957732G>A" "" "likely pathogenic (recessive)" "ACMG" "0001027746" "21" "70" "1" "11017789" "11017789" "subst" "0" "00006" "C1orf127_000007" "g.11017789G>A" "" "{PMID:Szenker-Ravi 2025:39753129}, {DOI:Szenker-Ravi 2025:10.1016/j.ajhg.2024.12.006}" "" "" "ACMG PVS1, PM2, PP1" "Germline" "yes" "rs1429386746" "0" "" "" "g.10957732G>A" "" "likely pathogenic (recessive)" "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 C1orf127 ## Count = 28 "{{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}}" "0000502400" "00003608" "30" "1255" "0" "1255" "0" "c.1255G>C" "r.(?)" "p.(Asp419His)" "" "0000653577" "00003608" "30" "1116" "0" "1116" "0" "c.1116G>A" "r.(?)" "p.(Ser372=)" "" "0000653579" "00003608" "30" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Val219Ile)" "" "0000798652" "00003608" "30" "489" "0" "489" "0" "c.489C>T" "r.(?)" "p.(Ser163=)" "" "0000821006" "00003608" "90" "-1657906" "0" "1809290" "0" "c.-1657906_*1806818del" "r.0?" "p.0?" "" "0001027577" "00003608" "50" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113Ter)" "" "0001027578" "00003608" "50" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113Ter)" "" "0001027726" "00003608" "90" "56" "0" "56" "0" "c.56C>T" "r.(?)" "p.(Thr19Met)" "" "0001027727" "00003608" "90" "56" "0" "56" "0" "c.56C>T" "r.(?)" "p.(Thr19Met)" "" "0001027728" "00003608" "90" "56" "0" "56" "0" "c.56C>T" "r.(?)" "p.(Thr19Met)" "" "0001027729" "00003608" "70" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113Ter)" "" "0001027730" "00003608" "70" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113Ter)" "" "0001027731" "00003608" "70" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113Ter)" "" "0001027732" "00003608" "70" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113Ter)" "" "0001027733" "00003608" "70" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113Ter)" "" "0001027734" "00003608" "70" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113Ter)" "" "0001027735" "00003608" "70" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113Ter)" "" "0001027736" "00003608" "70" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113Ter)" "" "0001027737" "00003608" "70" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113Ter)" "" "0001027738" "00003608" "70" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113Ter)" "" "0001027739" "00003608" "70" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113Ter)" "" "0001027740" "00003608" "70" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113Ter)" "" "0001027741" "00003608" "70" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113Ter)" "" "0001027742" "00003608" "70" "1210" "0" "1210" "0" "c.1210del" "r.(?)" "p.(Gln404ArgfsTer84)" "" "0001027743" "00003608" "70" "1210" "0" "1210" "0" "c.1210del" "r.(?)" "p.(Gln404ArgfsTer84)" "" "0001027744" "00003608" "70" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193Ter)" "" "0001027745" "00003608" "70" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193Ter)" "" "0001027746" "00003608" "70" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{variantid}}" "0000391270" "0000821006" "0000463948" "0001027577" "0000463949" "0001027578" "0000464073" "0001027726" "0000464073" "0001027744" "0000464074" "0001027727" "0000464074" "0001027745" "0000464075" "0001027728" "0000464075" "0001027746" "0000464076" "0001027729" "0000464077" "0001027730" "0000464078" "0001027731" "0000464079" "0001027732" "0000464080" "0001027733" "0000464081" "0001027734" "0000464082" "0001027735" "0000464083" "0001027736" "0000464084" "0001027737" "0000464085" "0001027738" "0000464086" "0001027739" "0000464087" "0001027740" "0000464088" "0001027741" "0000464089" "0001027742" "0000464090" "0001027743"