### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CPSF3L) # 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}}" "CPSF3L" "cleavage and polyadenylation specific factor 3-like" "1" "p36.33" "unknown" "NC_000001.10" "UD_135575487288" "" "https://www.LOVD.nl/INTS11" "" "1" "26052" "54973" "611354" "1" "1" "1" "1" "NOTE: gene name changed from CPSF3L to INTS11\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from CPSF3L to INTS11" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-05-04 13:03:23" "00000" "2025-11-01 13:22:20" ## 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}}" "00025833" "CPSF3L" "transcript variant 1" "005" "NM_001256456.1" "" "NP_001243385.1" "" "" "" "-534" "2095" "1821" "1260067" "1246965" "00006" "2023-05-05 15:02:29" "" "" ## 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}}" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07057" "NEDMLOB" "neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities" "AR" "620428" "" "" "" "00006" "2023-12-24 13:37:16" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CPSF3L" "05611" "CPSF3L" "07057" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "00435048" "" "" "" "2" "" "00006" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "2-generation family, 2 affected, unaffected heterozygous parents" "F" "" "Italy" "18y" "0" "" "" "white" "Fam1Pat1" "00435049" "" "" "00435048" "1" "" "00006" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "sister" "F" "" "Italy" "6y" "0" "" "" "white" "Fam1Pat2" "00435050" "" "" "" "2" "" "00006" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "2-generation family, affected monozygotic twins, unaffected heterozygous parents" "F" "" "United States" "" "0" "" "" "white" "Fam2Pat3" "00435051" "" "" "00435050" "1" "" "00006" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "monozygotic twin sister" "F" "" "United States" "" "0" "" "" "white" "Fam2Pat4" "00435052" "" "" "" "1" "" "00006" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "United States" "" "0" "" "" "white" "Fam3Pat5" "00435053" "" "" "" "1" "" "00006" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "United States" "" "0" "" "" "white" "Fam4Pat6" "00435054" "" "" "" "1" "" "00006" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "United States" "" "0" "" "" "white" "Fam5Pat7" "00435055" "" "" "" "1" "" "00006" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "France" "" "0" "" "" "white" "Fam6Pat8" "00435056" "" "" "" "1" "" "00006" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "Germany" "" "0" "" "" "white" "Fam7Pat9" "00435057" "" "" "" "2" "" "00006" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "2-generation family, 2 affected, unaffected heterozygous parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Bangladesh" "Fam8Pat10" "00435058" "" "" "00435057" "1" "" "00006" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "sister" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Bangladesh" "Fam8Pat11" "00435059" "" "" "" "1" "" "00006" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "France" "" "0" "" "" "Algeria" "Fam9Pat12" "00435060" "" "" "" "3" "" "00006" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "2-generation family, 3 affected, unaffected heterozygous parents" "F" "yes" "Israel" "" "0" "" "" "Arab Muslim" "Fam10Pat13" "00435061" "" "" "00435060" "1" "" "00006" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "sister" "F" "yes" "Israel" "13y" "0" "" "" "Arab Muslim" "Fam10Pat14" "00435062" "" "" "00435060" "1" "" "00006" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "sister" "F" "yes" "Israel" "" "0" "" "" "Arab Muslim" "Fam10Pat15" "00444513" "" "" "" "1" "" "00006" "{PMID:Riquin 2023:37495270}" "patient" "F" "" "France" "" "0" "" "" "" "Pat15" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00435048" "05611" "00435049" "05611" "00435050" "05611" "00435051" "05611" "00435052" "05611" "00435053" "05611" "00435054" "05611" "00435055" "05611" "00435056" "05611" "00435057" "05611" "00435058" "05611" "00435059" "05611" "00435060" "05611" "00435061" "05611" "00435062" "05611" "00444513" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611, 07057 ## Count = 16 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000325285" "05611" "00435048" "00006" "Familial, autosomal recessive" "18y" "see paper; ..., 18y-deceased; global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain progressive cerebral atrophy, gyral semplification, pontocerebellar atrophy; hypotonia; seizures; microcephaly; optic atrophy; intra-uterine growth retardation; no facial dysmorphisms" "" "" "" "" "" "" "" "NDD" "0000325286" "05611" "00435049" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., 6y-deceased; global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain progressive cerebral atrophy, gyral semplification, pontocerebellar atrophy; hypotonia; seizures; microcephaly; optic atrophy; intra-uterine growth retardation; no facial dysmorphisms" "" "" "" "" "" "" "" "NDD" "0000325287" "05611" "00435050" "00006" "Familial, autosomal recessive" "5y" "see paper; ..., global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain cerebellar hypoplasia, abnormal appearance posterior fossa; hypotonia; no seizures; no microcephaly; strabismus, myopia; ; hypertelorism, triangular face" "" "" "" "" "" "" "" "NDD" "0000325288" "05611" "00435051" "00006" "Familial, autosomal recessive" "5y" "see paper; ..., global developmental delay; intellectual disability; language delay; impaired motor development; ; hypotonia; no seizures; no microcephaly; myopia; ; hypertelorism, triangular face" "" "" "" "" "" "" "" "NDD" "0000325289" "05611" "00435052" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain mild to moderate cerebellar atrophy; ; no seizures; no microcephaly; mild optic atrophy; no prenatal findings; no facial dysmorphisms" "" "" "" "" "" "" "" "NDD" "0000325290" "05611" "00435053" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain subtle peripheral white matter hyperintensity around occipital horns and to lesser extent frontal regions; ; no seizures; no microcephaly; no optic findings; no prenatal findings; no facial dysmorphisms" "" "" "" "" "" "" "" "NDD" "0000325291" "05611" "00435054" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain simplified gyral pattern with agenesis corpus callosum, enlarged ventricles; no hypotonia; seizures; microcephaly; ; ; fontanelles closed at birth, low set ears" "" "" "" "" "" "" "" "NDD" "0000325292" "05611" "00435055" "00006" "Familial, autosomal recessive" "16y" "see paper; ..., global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain cerebellar progressive hypoplasia; no hypotonia; no seizures; microcephaly; no optic findings; intra-uterine growth retardation; narrow palate, retrognathism, prominent incisors, coarse facies" "" "" "" "" "" "" "" "NDD" "0000325293" "05611" "00435056" "00006" "Familial, autosomal recessive" "2y" "see paper; ..., global developmental delay; intellectual disability; language delay; impaired motor development; progressive supratentorial and infratentorial atrophy, leukoencephalopathy; hypotonia; seizures; microcephaly; optic atrophy; prenatal HELLP syndrome; prominent glabella, receding forehead" "" "" "" "" "" "" "" "NDD" "0000325294" "05611" "00435057" "00006" "Familial, autosomal recessive" "18y" "see paper; ..., global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain 2y-small cerebellum, delayed myelination; hypotonia; no seizures; microcephaly; retinal dystrophy; prenatal gestational diabetes, mild intra-uterine growth retardation; no facial dysmorphisms" "" "" "" "" "" "" "NEDMLOB" "NDD" "0000325295" "05611" "00435058" "00006" "Familial, autosomal recessive" "17y" "see paper; ..., global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain 9y-progressive cerebellar atrophy, milder pontine volume loss, diffuse white matter signal changes; hypotonia; one seizure; no microcephaly; retinal dystrophy; also hypermetropia; prenatal 33w-gestational diabetes, premature; no facial dysmorphisms" "" "" "" "" "" "" "" "NDD" "0000325296" "05611" "00435059" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain cerebellar atrophy; no hypotonia; no seizures; microcephaly; astigmatism; intra-uterine growth retardation; short forehead, epicanthic fold, bifid uvula" "" "" "" "" "" "" "" "NDD" "0000325297" "05611" "00435060" "00006" "Familial, autosomal recessive" "" "see paper; ..., deceased; global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain mild brain atrophy; hypotonia; no seizures; microcephaly; no optic findings; no prenatal findings; coarse face, broad nose and flat nasal bridge, thin upper lip, and wide mouth with macroglossia" "" "" "" "" "" "" "" "NDD" "0000325298" "05611" "00435061" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., 13y-deceased; global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain mildly dilated 4th ventricle, suspected mild atrophy cerebellum; hypotonia; no seizures; microcephaly; no optic findings; prenatal microcephaly; coarse facial features, broad nose, large mouth" "" "" "" "" "" "" "" "NDD" "0000325299" "05611" "00435062" "00006" "Familial, autosomal recessive" "" "see paper; ..., deceased; global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain periventricular signal hyperintensity interpreted as suspected delayed myelinization; hypotonia; no seizures; microcephaly; optic atrophy; no prenatal findings; coarse face, broad nose and flat nasal bridge" "" "" "" "" "" "" "" "NDD" "0000333766" "05611" "00444513" "00006" "Familial, autosomal recessive" "20y-40y" "Severe global developmental delay, walked at 4 years old, short stature, cerebellar atrophy" "" "" "" "" "" "" "" "neurodevelopmental disorders" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000436519" "00435048" "1" "00006" "00006" "2023-05-05 15:10:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436520" "00435049" "1" "00006" "00006" "2023-05-05 15:10:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436521" "00435050" "1" "00006" "00006" "2023-05-05 15:10:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436522" "00435051" "1" "00006" "00006" "2023-05-05 15:10:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436523" "00435052" "1" "00006" "00006" "2023-05-05 15:10:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436524" "00435053" "1" "00006" "00006" "2023-05-05 15:10:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436525" "00435054" "1" "00006" "00006" "2023-05-05 15:10:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436526" "00435055" "1" "00006" "00006" "2023-05-05 15:10:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436527" "00435056" "1" "00006" "00006" "2023-05-05 15:10:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436528" "00435057" "1" "00006" "00006" "2023-05-05 15:10:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436529" "00435058" "1" "00006" "00006" "2023-05-05 15:10:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436530" "00435059" "1" "00006" "00006" "2023-05-05 15:10:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436531" "00435060" "1" "00006" "00006" "2023-05-05 15:10:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436532" "00435061" "1" "00006" "00006" "2023-05-05 15:10:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436533" "00435062" "1" "00006" "00006" "2023-05-05 15:10:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446081" "00444513" "1" "00006" "00006" "2023-12-24 18:16:19" "" "" "SEQ-NG" "DNA" "" "WES, WGS trio" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 35 "{{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}}" "0000320418" "0" "50" "1" "1246390" "1246390" "subst" "0.00908143" "01804" "PUSL1_000001" "g.1246390C>G" "" "" "" "PUSL1(NM_153339.1):c.801C>G (p.(His267Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1311010C>G" "" "VUS" "" "0000620377" "0" "50" "1" "1247742" "1247742" "subst" "0" "01943" "CPSF3L_000004" "g.1247742G>A" "" "" "" "INTS11(NM_001256456.1):c.1489C>T (p.R497W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1312362G>A" "" "VUS" "" "0000927521" "11" "70" "1" "1256386" "1256386" "subst" "0" "00006" "CPSF3L_000021" "g.1256386A>G" "" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "" "" "" "Germline" "" "" "0" "" "" "g.1321006A>G" "" "likely pathogenic (recessive)" "" "0000927522" "11" "70" "1" "1256386" "1256386" "subst" "0" "00006" "CPSF3L_000021" "g.1256386A>G" "" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "" "" "" "Germline" "" "" "0" "" "" "g.1321006A>G" "" "likely pathogenic (recessive)" "" "0000927523" "11" "70" "1" "1248221" "1248221" "subst" "0" "00006" "CPSF3L_000012" "g.1248221G>A" "" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "" "" "" "Germline" "" "" "0" "" "" "g.1312841G>A" "" "likely pathogenic (recessive)" "" "0000927524" "11" "70" "1" "1248221" "1248221" "subst" "0" "00006" "CPSF3L_000012" "g.1248221G>A" "" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "" "" "" "Germline" "" "" "0" "" "" "g.1312841G>A" "" "likely pathogenic (recessive)" "" "0000927525" "11" "70" "1" "1247484" "1247485" "del" "0" "00006" "CPSF3L_000007" "g.1247484_1247485del" "" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "" "1670_1671delTG" "" "Germline" "" "" "0" "" "" "g.1312104_1312105del" "" "likely pathogenic (recessive)" "" "0000927526" "11" "70" "1" "1255873" "1255873" "subst" "8.12401E-6" "00006" "CPSF3L_000020" "g.1255873C>T" "" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "" "" "" "Germline" "" "" "0" "" "" "g.1320493C>T" "" "likely pathogenic (recessive)" "" "0000927527" "11" "70" "1" "1250253" "1250253" "subst" "4.07309E-6" "00006" "CPSF3L_000017" "g.1250253T>C" "" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "" "" "" "Germline" "" "" "0" "" "" "g.1314873T>C" "" "likely pathogenic (recessive)" "" "0000927528" "11" "70" "1" "1248275" "1248275" "subst" "0" "00006" "CPSF3L_000014" "g.1248275T>C" "" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "" "" "" "Germline" "" "" "0" "" "" "g.1312895T>C" "" "likely pathogenic (recessive)" "" "0000927529" "11" "70" "1" "1250250" "1250250" "subst" "1.22203E-5" "00006" "CPSF3L_000016" "g.1250250C>T" "" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "" "" "" "Germline" "" "" "0" "" "" "g.1314870C>T" "" "likely pathogenic (recessive)" "" "0000927530" "11" "70" "1" "1248242" "1248242" "subst" "0" "00006" "CPSF3L_000013" "g.1248242G>A" "" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "" "" "" "Germline" "" "" "0" "" "" "g.1312862G>A" "" "likely pathogenic (recessive)" "" "0000927531" "11" "70" "1" "1248242" "1248242" "subst" "0" "00006" "CPSF3L_000013" "g.1248242G>A" "" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "" "" "" "Germline" "" "" "0" "" "" "g.1312862G>A" "" "likely pathogenic (recessive)" "" "0000927532" "11" "70" "1" "1250257" "1250257" "subst" "8.14664E-6" "00006" "CPSF3L_000018" "g.1250257G>A" "" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "" "" "" "Germline" "" "" "0" "" "" "g.1314877G>A" "" "likely pathogenic (recessive)" "" "0000927533" "3" "70" "1" "1256452" "1256452" "subst" "0" "00006" "CPSF3L_000022" "g.1256452C>A" "" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "" "" "" "Germline" "" "" "0" "" "" "g.1321072C>A" "" "likely pathogenic (recessive)" "" "0000927534" "3" "70" "1" "1256452" "1256452" "subst" "0" "00006" "CPSF3L_000022" "g.1256452C>A" "" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "" "" "" "Germline" "" "" "0" "" "" "g.1321072C>A" "" "likely pathogenic (recessive)" "" "0000927535" "3" "70" "1" "1256452" "1256452" "subst" "0" "00006" "CPSF3L_000022" "g.1256452C>A" "" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "" "" "" "Germline" "" "" "0" "" "" "g.1321072C>A" "" "likely pathogenic (recessive)" "" "0000927536" "21" "70" "1" "1247656" "1247657" "del" "0" "00006" "CPSF3L_000008" "g.1247656_1247657del" "" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "" "1578_1579delAC" "" "Germline" "" "" "0" "" "" "g.1312276_1312277del" "" "likely pathogenic (recessive)" "" "0000927537" "21" "70" "1" "1247656" "1247657" "del" "0" "00006" "CPSF3L_000008" "g.1247656_1247657del" "" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "" "1578_1579delAC" "" "Germline" "" "" "0" "" "" "g.1312276_1312277del" "" "likely pathogenic (recessive)" "" "0000927538" "21" "70" "1" "1254693" "1254693" "subst" "0" "00006" "CPSF3L_000019" "g.1254693G>A" "" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "" "" "" "Germline" "" "" "0" "" "" "g.1319313G>A" "" "likely pathogenic (recessive)" "" "0000927539" "21" "70" "1" "1254693" "1254693" "subst" "0" "00006" "CPSF3L_000019" "g.1254693G>A" "" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "" "" "" "Germline" "" "" "0" "" "" "g.1319313G>A" "" "likely pathogenic (recessive)" "" "0000927540" "21" "70" "1" "1247483" "1247483" "subst" "0" "00006" "CPSF3L_000006" "g.1247483A>T" "" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "" "" "" "Germline" "" "" "0" "" "" "g.1312103A>T" "" "likely pathogenic (recessive)" "" "0000927541" "21" "70" "1" "1247670" "1247670" "subst" "1.33513E-5" "00006" "CPSF3L_000009" "g.1247670C>T" "" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "" "" "" "Germline" "" "" "0" "" "" "g.1312290C>T" "" "likely pathogenic (recessive)" "" "0000927542" "21" "70" "1" "1247817" "1247817" "subst" "2.91538E-5" "00006" "CPSF3L_000010" "g.1247817C>G" "" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "" "" "" "Germline" "" "" "0" "" "" "g.1312437C>G" "" "likely pathogenic (recessive)" "" "0000927543" "21" "70" "1" "1248089" "1248089" "subst" "2.16199E-5" "00006" "CPSF3L_000011" "g.1248089C>T" "" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "" "" "" "Germline" "" "" "0" "" "" "g.1312709C>T" "" "likely pathogenic (recessive)" "" "0000927544" "21" "70" "1" "1249136" "1249136" "dup" "0" "00006" "CPSF3L_000015" "g.1249136dup" "" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "" "" "" "Germline" "" "" "0" "" "" "g.1313756dup" "" "likely pathogenic (recessive)" "" "0000927545" "21" "70" "1" "1256468" "1256468" "subst" "0" "00006" "CPSF3L_000023" "g.1256468C>T" "" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "" "" "" "Germline" "" "" "0" "" "" "g.1321088C>T" "" "likely pathogenic (recessive)" "" "0000927546" "21" "70" "1" "1256468" "1256468" "subst" "0" "00006" "CPSF3L_000023" "g.1256468C>T" "" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "" "2830C>A (D944N)" "" "Germline" "" "" "0" "" "" "g.1321088C>T" "" "likely pathogenic (recessive)" "" "0000927547" "21" "70" "1" "1247402" "1247402" "subst" "5.3837E-6" "00006" "CPSF3L_000005" "g.1247402T>C" "" "{PMID:Tepe 2023:37054711}, {DOI:Tepe 2023:10.1016/j.ajhg.2023.03.012}" "" "" "" "Germline" "" "" "0" "" "" "g.1312022T>C" "" "likely pathogenic (recessive)" "" "0000954337" "1" "70" "1" "1248089" "1248089" "subst" "2.16199E-5" "00006" "CPSF3L_000011" "g.1248089C>T" "" "{PMID:Riquin 2023:37495270}" "" "NM_017871.6:c.1295-9G>A" "ACMG PM2, PM3, PP3, PP4; more support for pathogenicity" "Germline" "" "" "0" "" "" "g.1312709C>T" "" "likely pathogenic" "ACMG" "0000954349" "2" "70" "1" "1248275" "1248275" "subst" "0" "00006" "CPSF3L_000014" "g.1248275T>C" "" "{PMID:Riquin 2023:37495270}" "" "NM_017871.6:c.1186A>G" "ACMG PS3, PM2, PP3" "Germline" "" "" "0" "" "" "g.1312895T>C" "" "likely pathogenic" "ACMG" "0000973262" "0" "50" "1" "1262302" "1262302" "subst" "6.09558E-5" "01804" "TAS1R3_000031" "g.1262302G>A" "" "" "" "CPTP(NM_001029885.2):c.12G>A (p.(Ser4=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031147" "0" "50" "1" "1248216" "1248216" "subst" "1.22776E-5" "01804" "ACAP3_000005" "g.1248216G>A" "" "" "" "INTS11(NM_017871.6):c.1245C>T (p.(Gly415=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049849" "0" "50" "1" "1248918" "1248918" "subst" "2.03566E-5" "01804" "PUSL1_000002" "g.1248918G>A" "" "" "" "INTS11(NM_017871.6):c.1012C>T (p.(Arg338Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049850" "0" "50" "1" "1248938" "1248938" "subst" "0" "01804" "PUSL1_000003" "g.1248938C>T" "" "" "" "INTS11(NM_017871.6):c.992G>A (p.(Gly331Glu))" "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 CPSF3L ## Count = 35 "{{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}}" "0000320418" "00025833" "50" "2670" "0" "2670" "0" "c.*849G>C" "r.(=)" "p.(=)" "" "0000620377" "00025833" "50" "1489" "0" "1489" "0" "c.1489C>T" "r.(?)" "p.(Arg497Trp)" "" "0000927521" "00025833" "70" "134" "0" "134" "0" "c.134T>C" "r.(?)" "p.(Phe45Ser)" "" "0000927522" "00025833" "70" "134" "0" "134" "0" "c.134T>C" "r.(?)" "p.(Phe45Ser)" "" "0000927523" "00025833" "70" "1258" "0" "1258" "0" "c.1258C>T" "r.(?)" "p.(His420Tyr)" "" "0000927524" "00025833" "70" "1258" "0" "1258" "0" "c.1258C>T" "r.(?)" "p.(His420Tyr)" "" "0000927525" "00025833" "70" "1670" "0" "1671" "0" "c.1670_1671del" "r.(?)" "p.(Val557AspfsTer14)" "" "0000927526" "00025833" "70" "181" "0" "181" "0" "c.181G>A" "r.(?)" "p.(Gly61Ser)" "" "0000927527" "00025833" "70" "671" "0" "671" "0" "c.671A>G" "r.(?)" "p.(Glu224Gly)" "" "0000927528" "00025833" "70" "1204" "0" "1204" "0" "c.1204A>G" "r.(?)" "p.(Lys402Glu)" "" "0000927529" "00025833" "70" "674" "0" "674" "0" "c.674G>A" "r.(?)" "p.(Arg225Gln)" "" "0000927530" "00025833" "70" "1237" "0" "1237" "0" "c.1237C>T" "r.(?)" "p.(Pro413Ser)" "" "0000927531" "00025833" "70" "1237" "0" "1237" "0" "c.1237C>T" "r.(?)" "p.(Pro413Ser)" "" "0000927532" "00025833" "70" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Trp)" "" "0000927533" "00025833" "70" "68" "0" "68" "0" "c.68G>T" "r.(?)" "p.(Arg23Leu)" "" "0000927534" "00025833" "70" "68" "0" "68" "0" "c.68G>T" "r.(?)" "p.(Arg23Leu)" "" "0000927535" "00025833" "70" "68" "0" "68" "0" "c.68G>T" "r.(?)" "p.(Arg23Leu)" "" "0000927536" "00025833" "70" "1578" "0" "1579" "0" "c.1578_1579del" "r.(?)" "p.(Arg527GlnfsTer44)" "" "0000927537" "00025833" "70" "1578" "0" "1579" "0" "c.1578_1579del" "r.(?)" "p.(Arg527GlnfsTer44)" "" "0000927538" "00025833" "70" "430" "0" "430" "0" "c.430C>T" "r.(?)" "p.(Leu144Phe)" "" "0000927539" "00025833" "70" "430" "0" "430" "0" "c.430C>T" "r.(?)" "p.(Leu144Phe)" "" "0000927540" "00025833" "70" "1670" "0" "1670" "0" "c.1670T>A" "r.(?)" "p.(Val557Glu)" "" "0000927541" "00025833" "70" "1561" "0" "1561" "0" "c.1561G>A" "r.(?)" "p.(Val521Met)" "" "0000927542" "00025833" "70" "1482" "3" "1482" "3" "c.1482+3G>C" "r.spl" "p.?" "" "0000927543" "00025833" "70" "1313" "-9" "1313" "-9" "c.1313-9G>A" "r.spl" "p.?" "" "0000927544" "00025833" "70" "954" "0" "954" "0" "c.954dup" "r.(?)" "p.(Ala319CysfsTer2)" "" "0000927545" "00025833" "70" "52" "0" "52" "0" "c.52G>A" "r.(?)" "p.(Gly18Ser)" "" "0000927546" "00025833" "70" "52" "0" "52" "0" "c.52G>A" "r.(?)" "p.(Gly18Ser)" "" "0000927547" "00025833" "70" "1751" "0" "1751" "0" "c.1751A>G" "r.(?)" "p.(Tyr584Cys)" "" "0000954337" "00025833" "70" "1313" "-9" "1313" "-9" "c.1313-9G>A" "r.spl" "p.?" "" "0000954349" "00025833" "70" "1204" "0" "1204" "0" "c.1204A>G" "r.(?)" "p.(Lys402Glu)" "" "0000973262" "00025833" "50" "-2769" "0" "-2769" "0" "c.-2769C>T" "r.(?)" "p.(=)" "" "0001031147" "00025833" "50" "1263" "0" "1263" "0" "c.1263C>T" "r.(?)" "p.(=)" "" "0001049849" "00025833" "50" "1030" "0" "1030" "0" "c.1030C>T" "r.(?)" "p.(Arg344Trp)" "" "0001049850" "00025833" "50" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Gly337Glu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 29 "{{screeningid}}" "{{variantid}}" "0000436519" "0000927521" "0000436519" "0000927536" "0000436520" "0000927522" "0000436520" "0000927537" "0000436521" "0000927523" "0000436521" "0000927538" "0000436522" "0000927524" "0000436522" "0000927539" "0000436523" "0000927525" "0000436523" "0000927540" "0000436524" "0000927526" "0000436524" "0000927541" "0000436525" "0000927527" "0000436525" "0000927542" "0000436526" "0000927528" "0000436526" "0000927543" "0000436527" "0000927529" "0000436527" "0000927544" "0000436528" "0000927530" "0000436528" "0000927545" "0000436529" "0000927531" "0000436529" "0000927546" "0000436530" "0000927532" "0000436530" "0000927547" "0000436531" "0000927533" "0000436532" "0000927534" "0000436533" "0000927535" "0000446081" "0000954337" "0000446081" "0000954349"