### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = UBAP1L) # 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}}" "UBAP1L" "ubiquitin associated protein 1-like" "15" "q22.31" "unknown" "NC_000015.9" "UD_136095073736" "" "https://www.LOVD.nl/UBAP1L" "" "1" "40028" "390595" "0" "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/UBAP1L_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-02-09 11:02:43" "00000" "2024-08-28 13:16:32" ## 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}}" "00022220" "UBAP1L" "ubiquitin associated protein 1-like" "001" "NM_001163692.1" "" "NP_001157164.1" "" "" "" "-144" "1239" "1146" "65398697" "65385342" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00381" "RD" "dystrophy, retinal (RD)" "" "" "" "" "" "00006" "2014-05-09 11:59:52" "00006" "2015-12-07 07:11:25" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "UBAP1L" "00381" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00447995" "" "" "" "2" "" "02230" "Han 2024, submitted" "3-generation family, affected brother sister, unaffected parents" "M" "" "Hungary" "" "0" "" "" "" "FamIPatIII1" "00447996" "" "" "00447995" "1" "" "02230" "Han 2024, submitted" "sister" "F" "" "Hungary" "" "0" "" "" "" "FamIPatIII2" "00447997" "" "" "" "1" "" "02230" "Han 2024, submitted" "3-generation family, 3 affected sibs (F, 2M), unaffected parents" "M" "" "United States" "" "0" "" "" "" "FamIIPatII2" "00447998" "" "" "" "1" "" "02230" "Han 2024, submitted" "4-generation family, 1 affected, unaffected parents" "M" "" "Israel" "" "0" "" "" "Africa-N;jew" "FamIIIPatIII1" "00447999" "" "" "" "1" "" "02230" "Han 2024, submitted" "2-generation family, 1 affected, unaffected parents" "F" "yes" "Israel" "" "0" "" "" "Arab;Muslim" "FamIVPatII1" "00448000" "" "" "" "1" "" "02230" "Han 2024, submitted" "3-generation family, 1 affected, unaffected parents" "F" "" "Israel" "" "0" "" "" "jew-Ashkenazi" "FamVPatII2" "00448001" "" "" "" "2" "" "02230" "Han 2024, submitted" "3-generation family, affected brother sister, unaffected parents" "M" "" "Israel" "" "0" "" "" "Africa-N;jew" "FamVIPatII2" "00448002" "" "" "00448001" "1" "" "02230" "Han 2024, submitted" "sister" "F" "" "Israel" "" "0" "" "" "Africa-N;jew" "FamVIPatII3" "00448003" "" "" "" "1" "" "02230" "Han 2024, submitted" "2-generation family, 1 affected, unaffected parents" "M" "" "Israel" "" "0" "" "" "Arab;Christian" "FamVIIPatII2" "00448004" "" "" "" "1" "" "02230" "Han 2024, submitted" "3-generation family, 3 affected sibs (2F, M), unaffected parents" "F" "yes" "Netherlands" "" "0" "" "" "Turkey" "FamVIIIPatII9" "00448005" "" "" "" "1" "" "00006" "{PMID:Zeitz 2024:38293907}" "2-generation family, 1 affected, unaffected heterozygous parents/relatives" "M" "yes" "France" "" "0" "" "" "Tunisia" "F1362PatCIC03225" "00448006" "" "" "" "1" "" "00006" "{PMID:Zeitz 2024:38293907}" "2-generation family, 1 affected, unaffected parents" "M" "yes" "Tunisia" "" "0" "" "" "" "F3377PatCIC06376" "00448007" "" "" "" "2" "" "00006" "{PMID:Zeitz 2024:38293907}" "2-generation family, 2 affected sisters, unaffected parents" "F" "yes" "France" "" "0" "" "" "Tunisia" "F5326PatCIC09282" "00448008" "" "" "" "2" "" "00006" "{PMID:Zeitz 2024:38293907}" "2-generation family, affected brother/sister, unaffected parents" "F" "yes" "Tunisia" "" "0" "" "" "" "F7544PatCIC13094" "00448025" "" "" "" "1" "" "00006" "{PMID:Carss 2017:28041643}" "patient" "M" "" "" "" "0" "" "" "Asia-S" "W000375" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00447995" "04214" "00447996" "04214" "00447997" "04214" "00447998" "04214" "00447999" "04214" "00448000" "04214" "00448001" "04214" "00448002" "04214" "00448003" "04214" "00448004" "04214" "00448005" "04214" "00448006" "04214" "00448007" "04214" "00448008" "04214" "00448025" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00381, 04214 ## Count = 15 "{{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}}" "0000337184" "04214" "00447995" "02230" "Familial, autosomal recessive" "" "see paper; ..., 25y-abnormal retinal findings (incidental; nyctalopia, VA loss, 33y-color vision deficit; refraction OD -11.0/+1.00x120, OS -10/+1.5x65; best corrected visual acuity OU 20/32 (25y), OU 20/50 (33y), OD 20/60; OS 20/50 (37y); 25y-Goldmann VF (OU) ring scotoma;37y-Goldmann VF (OU) about 8 degrees remaining, temporal crescent island (V4e target); 25y-bone spicule pigment deposits in the mid-periphery; 33y-OCT (OU) visible photoreceptors central macula; 37y-OCT (OU) bruch membrane ruptures posterior pole; 38y-OCT (OU) small intact central island; full field ERG 25y-extinguished rod and diminished cone responses; 25y-faint posterior subcapsular cataracts; Cambridge Colour Test measurable protan and deutan thresholds with abolished tritan thresholds" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000337185" "04214" "00447996" "02230" "Familial, autosomal recessive" "" "see paper; ..., 30y-abnormal full-field ERG; refraction OD -7.0/0.0, OS -9.0/0.0; best corrected visual acuity OU 20/20 (30y); full field ERG 30y-abnormal rod and cone responses" "" "" "" "" "" "" "" "" "generalized retinal dysfunction" "0000337186" "04214" "00447997" "02230" "Familial, autosomal recessive" "" "see paper; ..., 38y-nyctalopia, VA loss, photo-aversion OS; prior retinal detachments OD; refraction highly myopic; best corrected visual acuity OD no light perception (phthisis), OS 20/500 (38y); 38y-kinetic VF (OS) two temporal crescent islands (V4e target); 38y-static VF (OS) severely decreased sensitivity; 38y-pale disc, retinal vessel attenuation, macular and mid-peripheral atrophy with few bone spicules; 38y-OCT (OS) Loss of outer retinal structure, ERM, SHRM, choroidal atrophy; 38y-FA (OS) arm-to-eye time 35 sec, no vasculitis or disc leakage" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000337187" "04214" "00447998" "02230" "Familial, autosomal recessive" "" "see paper; ..., 22y-nyctalopia; best corrected visual acuity OU 20/30 (30y, OU hand motion (54y); 35y-Goldmann VF (OU about 5 central degrees remaining; 54y-waxy pallor optic nerve head, attenuation retinal vessels, confluent pigment changes in mid-periphery, macular atrophy; full field ERG 30y-diminished cone and rod waves; 30y-color vision abnormalities" "" "" "" "" "" "" "" "" "atypical retinitis pigmentosa" "0000337188" "04214" "00447999" "02230" "Familial, autosomal recessive" "" "see paper; ..., refraction OD -4.25/-0.50x132, OS -4.25/-1x55; best corrected visual acuity OU counting fingers (49y); 49y-pale discs with macular scars without bone spicules; full field ERG 49y-reduced rod and cone responses" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000337189" "04214" "00448000" "02230" "Familial, autosomal recessive" "" "see paper; ..., 51y-nyctalopia, peripheral vision difficulties; best corrected visual acuity OD 20/50 OS 20/25 (57y); 61y-Goldmann VF (OU) reduced extent (V4e and III4e targets) with greater loss of nasal field; 61y-pigment accumulation retinal midperiphery; 61y-OCT (OU) central island outer nuclear layer that abnormally declined in thickness with eccentricity; 61y-short-wavelength FAF (OU) diffuse RPE pathology; full field ERG 61y-reduced rod and cone responses" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000337190" "04214" "00448001" "02230" "Familial, autosomal recessive" "" "see paper; ..., 60y-retinal degeneration OU found at the same time as retinal detachment OD; best corrected visual acuity OS 20/25 (62y); static VF (OS) marked narrowing; 62y-extensive bone-spicule–like pigment retinal periphery; 62y-OCT (OU) thinned outer nuclear layer abnormally declining in thickness with increasing eccentricity fovea; 62y-short-wavelength FAF (OU) diffuse RPE pathology with relative sparing superior sector posterior pole; full field ERG 62y-not recordable rod and cone responses; 60y-retinal detachment OD" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000337191" "04214" "00448002" "02230" "Familial, autosomal recessive" "" "see paper; ..., 40y-nyctalopia; refraction OD -5.0/-4.00x5, OS -3.25/-4.50x50; best corrected visual acuity OU 20/63 (50y); 50y-GVF (OU) constricted (V4e and I4e targets); full field ERG 50y-diminished cone and rod responses" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000337192" "04214" "00448003" "02230" "Familial, autosomal recessive" "" "see paper; ..., color vision deficiency since childhood with progressive deterioration; 15-glasses for mild-moderate myopia; initially good BCVA, in late twenties BCVA began to decline, with a more severe drop between the ages of 30y-37y; refraction OD -3.00/-1.25x41, OS -2.50/- 1.00x15; best corrected visual acuity OU 20/32 (30y), OU 20/63 (35y), OU 20/100 (37y); 30y-small central scotoma both eyes correlates with OCT findings, 31y-similar to previous with slight enlargement of affected area; 30y-mild Bull’s eye maculopathy with central macular atrophy and pigmentary changes in fovea and parafovea, attenuated vessels, no peripheral pigmentary changes, no bone-spicule–like pigment; full field ERG 30y-markedly reduced and delayed cone responses with borderline normal rod responses; 35y-further reduction cone function (from 20uV to 7uV) with mild reduction of rod function" "" "" "" "" "" "" "" "" "cone dystrophy, mild rod involvement" "0000337193" "04214" "00448004" "02230" "Familial, autosomal recessive" "" "see paper; ..., mild dark adaptation problems (some difficulties with driving at night); refraction OD -5.50/-0.75x114, OS -4.50/-1.00x88; best corrected visual acuity OD 20/20, OS 20/20 (47y); Goldmann VF OD and OS relative (peri)central scotoma, periphery intact; pink optic discs, mild attenuation of arterioles, foveal sparing, perifoveal RPE alterations, perimacular lipofuscine depositions, in periphery RPE alterations with a few intraretinal hyperpigmentations; OCT perifoveal ring with abnormal/absent EZ; FAF hyperautoflourescent perifoveal ring, macular region hypoautofluorescent dots, deep hypoautofluorescent areas OS>OD (not present at first visit), perimacular some \'flecks\', abnormalities posterior pole seem to have a mild radiant pattern; full field ERG dark adapted responses (isolated rod and mixed), within normal values, light adapted responses (30Hz and single flash) severely reduced; sister diagnosed elsewhere with cone-rod dystrophy, brother diagnosed elsewhere with macular dystrophy, both with severely reduced central vision" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "0000337195" "04214" "00448006" "00006" "Familial, autosomal recessive" "" "see paper; ..., cone-rod dystrophy" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "0000337196" "04214" "00448007" "00006" "Familial, autosomal recessive" "55y" "see paper; ..." "" "" "" "" "" "" "" "" "Stargardt disease" "0000337197" "04214" "00448008" "00006" "Familial, autosomal recessive" "50y" "see paper; ..., night blindness" "" "" "" "" "" "" "" "" "night blindness" "0000337198" "04214" "00448005" "00006" "Familial, autosomal recessive" "23y" "see paper; ..., 20y-night blindness, progressive visual field constriction" "" "" "" "" "" "" "" "" "night blindness" "0000337214" "04214" "00448025" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000449568" "00447995" "1" "02230" "00006" "2024-02-09 14:03:00" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000449569" "00447996" "1" "02230" "00006" "2024-02-09 14:03:00" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000449570" "00447997" "1" "02230" "00006" "2024-02-09 14:03:00" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000449571" "00447998" "1" "02230" "00006" "2024-02-09 14:03:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA" "blood" "WES/WGS" "0000449572" "00447999" "1" "02230" "00006" "2024-02-09 14:03:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA" "blood" "WES/WGS" "0000449573" "00448000" "1" "02230" "00006" "2024-02-09 14:03:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA" "blood" "WES/WGS" "0000449574" "00448001" "1" "02230" "00006" "2024-02-09 14:03:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA" "blood" "WES/WGS" "0000449575" "00448002" "1" "02230" "00006" "2024-02-09 14:03:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA" "blood" "WES/WGS" "0000449576" "00448003" "1" "02230" "00006" "2024-02-09 14:03:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA" "blood" "WES/WGS" "0000449577" "00448004" "1" "02230" "00006" "2024-02-09 14:03:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "WGS" "0000449578" "00448005" "1" "00006" "00006" "2024-02-09 14:23:37" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WGS" "0000449579" "00448006" "1" "00006" "00006" "2024-02-09 14:29:25" "" "" "SEQ" "DNA" "" "" "0000449580" "00448007" "1" "00006" "00006" "2024-02-09 14:35:24" "" "" "SEQ" "DNA" "" "" "0000449581" "00448008" "1" "00006" "00006" "2024-02-09 14:42:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000449598" "00448025" "1" "00006" "00006" "2024-02-09 18:12:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000449579" "UBAP1L" "0000449580" "UBAP1L" ## 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 = 18 "{{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}}" "0000959981" "3" "70" "15" "65391893" "65391893" "subst" "2.69233E-5" "02230" "UBAP1L_000001" "g.65391893G>A" "" "Han 2024, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.65099555G>A" "" "likely pathogenic (recessive)" "" "0000959982" "3" "70" "15" "65391893" "65391893" "subst" "2.69233E-5" "02230" "UBAP1L_000001" "g.65391893G>A" "" "Han 2024, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.65099555G>A" "" "likely pathogenic (recessive)" "" "0000959983" "3" "70" "15" "65392044" "65392044" "del" "0" "02230" "UBAP1L_000002" "g.65392044del" "" "Han 2024, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.65099706del" "" "likely pathogenic (recessive)" "" "0000959984" "3" "70" "15" "65386921" "65386921" "subst" "0.000196586" "02230" "UBAP1L_000003" "g.65386921C>T" "" "Han 2024, submitted" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.65094583C>T" "" "likely pathogenic (recessive)" "" "0000959985" "3" "70" "15" "65386921" "65386921" "subst" "0.000196586" "02230" "UBAP1L_000003" "g.65386921C>T" "" "Han 2024, submitted" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.65094583C>T" "" "likely pathogenic (recessive)" "" "0000959986" "3" "70" "15" "65386921" "65386921" "subst" "0.000196586" "02230" "UBAP1L_000003" "g.65386921C>T" "" "Han 2024, submitted" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.65094583C>T" "" "likely pathogenic (recessive)" "" "0000959987" "3" "70" "15" "65386921" "65386921" "subst" "0.000196586" "02230" "UBAP1L_000003" "g.65386921C>T" "" "Han 2024, submitted" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.65094583C>T" "" "likely pathogenic (recessive)" "" "0000959988" "3" "70" "15" "65386921" "65386921" "subst" "0.000196586" "02230" "UBAP1L_000003" "g.65386921C>T" "" "Han 2024, submitted" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.65094583C>T" "" "likely pathogenic (recessive)" "" "0000959989" "21" "70" "15" "65386921" "65386921" "subst" "0.000196586" "02230" "UBAP1L_000003" "g.65386921C>T" "" "Han 2024, submitted" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.65094583C>T" "" "likely pathogenic (recessive)" "" "0000959990" "3" "70" "15" "65395023" "65395023" "subst" "0" "02230" "UBAP1L_000004" "g.65395023C>G" "" "Han 2024, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.65102685C>G" "" "likely pathogenic (recessive)" "" "0000959991" "10" "70" "15" "65394509" "65394519" "del" "0" "02230" "UBAP1L_000005" "g.65394509_65394519del" "" "Han 2024, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.65102171_65102181del" "" "likely pathogenic (recessive)" "" "0000959992" "3" "90" "15" "65386921" "65386921" "subst" "0.000196586" "00006" "UBAP1L_000003" "g.65386921C>T" "" "{PMID:Zeitz 2024:38293907}" "" "" "" "Germline" "" "" "0" "" "" "g.65094583C>T" "" "likely pathogenic (recessive)" "" "0000959993" "3" "90" "15" "65394509" "65394519" "del" "0" "00006" "UBAP1L_000005" "g.65394509_65394519del" "" "{PMID:Zeitz 2024:38293907}" "" "" "" "Germline" "" "" "0" "" "" "g.65102171_65102181del" "" "likely pathogenic (recessive)" "" "0000959994" "3" "90" "15" "65391893" "65391893" "subst" "2.69233E-5" "00006" "UBAP1L_000001" "g.65391893G>A" "" "{PMID:Zeitz 2024:38293907}" "" "" "" "Germline" "" "" "0" "" "" "g.65099555G>A" "" "likely pathogenic (recessive)" "" "0000959996" "3" "90" "15" "65394509" "65394519" "del" "0" "00006" "UBAP1L_000005" "g.65394509_65394519del" "" "{PMID:Zeitz 2024:38293907}" "" "" "" "Germline" "" "" "0" "" "" "g.65102171_65102181del" "" "likely pathogenic (recessive)" "" "0000960021" "3" "70" "15" "65395024" "65395024" "subst" "0" "00006" "UBAP1L_000006" "g.65395024T>G" "" "{PMID:Carss 2017:28041643}" "" "" "candidate disease gene" "Germline" "" "" "0" "" "" "g.65102686T>G" "" "VUS" "" "0001001589" "0" "30" "15" "65394625" "65394625" "subst" "0" "01804" "UBAP1L_000007" "g.65394625G>T" "" "" "" "UBAP1L(NM_001163692.1):c.518C>A (p.(Ala173Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001590" "0" "30" "15" "65394631" "65394631" "subst" "0.001154" "01804" "UBAP1L_000008" "g.65394631G>C" "" "" "" "UBAP1L(NM_001163692.1):c.512C>G (p.(Pro171Arg))" "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 UBAP1L ## Count = 18 "{{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}}" "0000959981" "00022220" "70" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Arg287*)" "" "0000959982" "00022220" "70" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Arg287*)" "" "0000959983" "00022220" "70" "710" "0" "710" "0" "c.710del" "r.(?)" "p.(Pro237Argfs*32)" "" "0000959984" "00022220" "70" "910" "-7" "910" "-7" "c.910-7G>A" "r.(909_910ins910-5_910-1)" "p.(Phe304Profs*91)" "" "0000959985" "00022220" "70" "910" "-7" "910" "-7" "c.910-7G>A" "r.(909_910ins910-5_910-1)" "p.(Phe304Profs*91)" "" "0000959986" "00022220" "70" "910" "-7" "910" "-7" "c.910-7G>A" "r.(909_910ins910-5_910-1)" "p.(Phe304Profs*91)" "" "0000959987" "00022220" "70" "910" "-7" "910" "-7" "c.910-7G>A" "r.(909_910ins910-5_910-1)" "p.(Phe304Profs*91)" "" "0000959988" "00022220" "70" "910" "-7" "910" "-7" "c.910-7G>A" "r.(909_910ins910-5_910-1)" "p.(Phe304Profs*91)" "" "0000959989" "00022220" "70" "910" "-7" "910" "-7" "c.910-7G>A" "r.(909_910ins910-5_910-1)" "p.(Phe304Profs*91)" "" "0000959990" "00022220" "70" "121" "-1" "121" "-1" "c.121-1G>C" "r.121_699del" "p.His41_Ala233del" "1i" "0000959991" "00022220" "70" "634" "0" "644" "0" "c.634_644del" "r.(?)" "p.(Ser212Alafs*44)" "" "0000959992" "00022220" "90" "910" "-7" "910" "-7" "c.910-7G>A" "r.909_910ins910-5_910-1" "p.Phe304Profs*91" "" "0000959993" "00022220" "90" "634" "0" "644" "0" "c.634_644del" "r.(?)" "p.(Ser212Alafs*44)" "" "0000959994" "00022220" "90" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Arg287*)" "" "0000959996" "00022220" "90" "634" "0" "644" "0" "c.634_644del" "r.(?)" "p.(Ser212Alafs*44)" "" "0000960021" "00022220" "70" "121" "-2" "121" "-2" "c.121-2A>C" "r.spl" "p.?" "" "0001001589" "00022220" "30" "518" "0" "518" "0" "c.518C>A" "r.(?)" "p.(Ala173Asp)" "" "0001001590" "00022220" "30" "512" "0" "512" "0" "c.512C>G" "r.(?)" "p.(Pro171Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000449568" "0000959981" "0000449569" "0000959982" "0000449570" "0000959983" "0000449571" "0000959984" "0000449572" "0000959985" "0000449573" "0000959986" "0000449574" "0000959987" "0000449575" "0000959988" "0000449576" "0000959989" "0000449576" "0000959991" "0000449577" "0000959990" "0000449578" "0000959992" "0000449579" "0000959993" "0000449580" "0000959994" "0000449581" "0000959996" "0000449598" "0000960021"