### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = UBAP2L) # 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}}" "UBAP2L" "ubiquitin associated protein 2-like" "1" "q21.3" "unknown" "NC_000001.10" "UD_132319174513" "" "https://www.LOVD.nl/UBAP2L" "" "1" "29877" "9898" "616472" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/UBAP2L_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-05-16 17:24:58" "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}}" "00022222" "UBAP2L" "transcript variant 1" "002" "NM_014847.3" "" "NP_055662.3" "" "" "" "-167" "3822" "3264" "154193325" "154243329" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07111" "NEDLBF" "neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies" "AD" "620494" "" "" "" "00006" "2024-11-08 09:36:37" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "UBAP2L" "07111" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00104567" "" "" "" "1" "" "01836" "" "" "M" "?" "France" "" "0" "" "" "" "" "00457299" "" "" "" "1" "" "04770" "" "" "M" "" "China" "" "" "" "" "" "" "00457343" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "Asia" "Pat1" "00457344" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "Asia" "Pat2" "00457345" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "white" "Pat3" "00457346" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Italy" "" "0" "" "" "white" "Pat4" "00457347" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Italy" "" "0" "" "" "white" "Pat5" "00457348" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "France" "" "0" "" "" "" "Pat6" "00457349" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "French-Canadian" "Pat7" "00457350" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "white" "Pat8" "00457351" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Netherlands" "" "0" "" "" "" "Pat9" "00457352" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "white" "Pat10" "00457353" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "France" "" "0" "" "" "" "Pat11" "00457354" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "white;Poland" "Pat12" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00104567" "00138" "00457299" "05611" "00457343" "05611" "00457344" "05611" "00457345" "05611" "00457346" "05611" "00457347" "05611" "00457348" "05611" "00457349" "05611" "00457350" "05611" "00457351" "05611" "00457352" "05611" "00457353" "05611" "00457354" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 05611, 07111 ## Count = 13 "{{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}}" "0000082486" "00138" "00104567" "01836" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "0000345806" "05611" "00457343" "00006" "Isolated (sporadic)" "3y9m" "see paper; ..., birth 36w+1; prenatal IUGR, SGA, premature, short femur (prenatal ultrasound); Infant feeding difficulties; failure to thrive; speech problems; motor delay; intellectual disability; no regression of developmental milestones; global developmental delay; no anxiety; no ADHD; no repetitive behavior; no obsessive behavior; no aggressive behavior; no self-injury behavior; no macrocephaly; +(39 cm(<<1st centile)-2Y3M; 41 cm(<<1st centile)-3Y9M;); MRI brain normal; no seizures; no epilepsy; no sleep disturbances; short stature; no congenital heart defects; no gastrointestinal disturbance; mild strephenopodia; congenital abnormal eye development (nystagmus, leukoma,esotropia); no hearing impairment; no hypotonia; round face, asymmetrical palpebral fissure, cup ears, low front hairline, deviated mouth, deep and prominent concha" "" "2y3m" "" "" "" "" "" "NEDLBF" "neurodevelopmental delay" "0000345807" "05611" "00457344" "00006" "Isolated (sporadic)" "9y" "see paper; ..., no motor delay; intellectual disability; no regression of developmental milestones; no ADHD; repetitive behavior; obsessive behavior; no aggressive behavior; no self-injury behavior; MRI brain normal; no seizures; no epilepsy; no sleep disturbances; no congenital heart defects; no gastrointestinal disturbance; no skeletal alterations; no visual impairment; no hearing impairment; no hypotonia" "" "9y" "" "" "" "" "" "NEDLBF" "neurodevelopmental delay" "0000345808" "05611" "00457345" "00006" "Isolated (sporadic)" "" "see paper; ..., prenatal significant tremor at birth, cyanotic episodes, iInfantile shudder; Infant feeding difficulties; speech problems, 1y-first words, 3y-2-3 words; mild delayed in fine and gross motor skills; 10m-sitting, 15m-walk, >2y-up and down stair, 4y-write; mild developmental delay; ADHD; febrile seizures; lower limb skeletal anomalies (metatarsal adducts, femoral anteversion, tibia torsion); hypotonia" "" "4y" "" "" "" "" "" "NEDLBF" "neurodevelopmental delay" "0000345809" "05611" "00457346" "00006" "Isolated (sporadic)" "7y" "see paper; ..., birth 39w; Infant feeding difficulties; failure to thrive; speech problems; no motor delay; no intellectual disability; no regression of developmental milestones; developmental delay; no anxiety; ADHD; repetitive behavior, echolalia; no obsessive behavior; aggressive behavior; no self-injury behavior; no macrocephaly; -(50 cm(40th centile)); MRI brain cavum septum pellucidum; EEG brain normal; no seizures; no epilepsy; no sleep disturbances; short stature; no congenital heart defects; gastroesophageal reflux; brachydactyl, joint stiffness (hands, elbows, knees, and feet), symphalangism of thumb; mild hypermetropic astigmatism; no hearing impairment; no hypotonia; mild synophrys, upslanting palpebral fissures, deep and prominent concha; hypertrichosis" "" "6y" "" "" "" "" "" "NEDLBF" "neurodevelopmental delay" "0000345810" "05611" "00457347" "00006" "Isolated (sporadic)" "15y8m" "see paper; ..., birth 38w; no prenatal anomalies; no Infant feeding difficulties; no failure to thrive; receptive language test 75/80; motor delay; intellectual disability; no regression of developmental milestones; no anxiety; no ADHD; repetitive behavior; no obsessive behavior; no aggressive behavior; no self-injury behavior; no macrocephaly; +(52 cm(3rd centile); MRI brain malacic lesion at white mater of right occipital horn, ex-vacuo dilation of right occipital horn; EEG brain spike-wave discharges in precentral areas and temporal area; 1y-tonic-clonic seizures during fever and without feve, seizures mainly affected one hemisoma, 3y-absence seizures; epilepsy; no sleep disturbances; oromandibular dystonia; no short stature; no congenital heart defects; no gastrointestinal disturbance; no skeletal alterations; no visual impairment; no hearing impairment; mild synophrys; three cafe-au-lait spots and one hypochromic macula" "" "15y8m" "" "" "" "" "" "NEDLBF" "neurodevelopmental delay" "0000345811" "05611" "00457348" "00006" "Isolated (sporadic)" "9y" "see paper; ..., birth 38w; Infant feeding difficulties; speech problems; motor delay, 18m-walk; mild intellectual disability; anxiety; no ADHD; no repetitive behavior; no aggressive behavior; emotional; -; seizures; epilepsy; no short stature; no skeletal alterations; no visual impairment; hypotonia; large front horizontal eyelashes, hypertelorism, broad nasal bridge, ears small helix (scrumpled); hyperplasia congenital surrenales" "" "11y" "" "" "" "" "" "NEDLBF" "neurodevelopmental delay" "0000345812" "05611" "00457349" "00006" "Isolated (sporadic)" "15y9m" "see paper; ..., birth 35w; prenatal breech; no Infant feeding difficulties; no failure to thrive; speech delay, 4y-talking; motor delay, 15m-walk; intellectual disability, 15y-functioning at level of 9-10y; no regression of developmental milestones; poor effort tolerance; anxiety; ADHD (iInattentive type); no repetitive behavior; no obsessive behavior; no aggressive behavior; no self-injury behavior; 15y8m-no macrocephaly, OFC 74th centile; -; MRI brain normal; EEG brain normal; no seizures; no epilepsy; 10m-sleep apnea requiring nasal CPAP; metopic craniosynostosis, mild trigonocephaly; no short stature; no congenital heart defects; hyperphagia, prior history of abdominal with diarrhea alternating with constipation; scoliosis (14 degrees), kyphosis (42 degrees); hypermetropia, blinks very frequently; hyperacousia; long face with facial asymmetry, palpebral fissures are straight(interpupillary distance is 53 mm), tubular nose, thin upper lip, mild eversion of lower vermillion, high-arched palate, prominent chin, facial hair, small ears" "" "15y9m" "" "" "" "" "" "NEDLBF" "neurodevelopmental delay" "0000345813" "05611" "00457350" "00006" "Isolated (sporadic)" "15y4m" "see paper; ..., birth 38w; Infant feeding difficulties; stuttering speech; no motor delay; no intellectual disability; no regression of developmental milestones; no anxiety; no ADHD; repetitive behavior; no obsessive behavior; aggressive behavior; no self-injury behavior; no macrocephaly, OFC 56.9 cm(91th centile); -; MRI brain normal; no seizures; no epilepsy; daytime sleepiness; no short stature; no congenital heart defects; no gastrointestinal disturbance; corrected visual impairment; no hearing impairment; respiratory problems (including chronic bronchitis); 13y-head injury" "" "15y4m" "" "" "" "" "" "NEDLBF" "neurodevelopmental delay" "0000345814" "05611" "00457351" "00006" "Isolated (sporadic)" "13y9m" "see paper; ..., birth 40w; Infant feeding difficulties; failure to thrive; speech problems, 2y6m-first words; motor delay, 12m-sit, 17m-stand, 22m-walk without support; intellectual disability; no regression of developmental milestones; developmental delay; no anxiety; no ADHD; no repetitive behavior; no obsessive behavior; no aggressive behavior; no self-injury behavior; no macrocephaly; -(55.3 cm(55th centile)-13Y9M); MRI brain mild vermis hypoplasia and a thin corpus callosum, no structural abnormalities; EEG brain generalized background slowing; epileptic seizures only one time; no epilepsy; no sleep disturbances; no short stature; no congenital heart defects; no gastrointestinal disturbance; no skeletal alterations; myopia (-2D L and R)); no hearing impairment; hypotonia; broad forehead, small palpebral fissure, cow\'s lick on forehead, deep and prominent concha" "" "2y" "" "" "" "" "" "NEDLBF" "neurodevelopmental delay" "0000345815" "05611" "00457352" "00006" "Isolated (sporadic)" "4y2m" "see paper; ..., birth 38w+5; Infant feeding difficulties; no failure to thrive; marked speech delay; marked motor delay; intellectual disability; no regression of developmental milestones; delayed closing anterior fontanelle; ADHD; no repetitive behavior; no obsessive behavior; no aggressive behavior; no self-injury behavior; diagnosed with unspecified behavioral and emotional disorders; no macrocephaly; +; MRI brain normal; hHistory one febrile seizure brought on by 104 degree fever; no epilepsy; no sleep disturbances; short stature; no congenital heart defects; acid reflux issues were noted shortly after birth; no skeletal alterations; exotropia right eye; no hearing impairment; flat face, deep set eyes, hypertelorism, bulbous nose, long philtrum, thin upper lip, low-set and posteriorly rotated ears, deep and prominent concha, broad forehead" "" "2y" "" "" "" "" "" "NEDLBF" "neurodevelopmental delay" "0000345816" "05611" "00457353" "00006" "Isolated (sporadic)" "4y6m" "see paper; ..., birth 32w+6; no Infant feeding difficulties; no failure to thrive; speech problems; no motor delay; intellectual disability; no regression of developmental milestones; no anxiety; ADHD; no repetitive behavior; no obsessive behavior; aggressive behavior; no self-injury behavior; macrocephaly, OFC 52cm (+1 SD); -; MRI brain normal; EEG brain normal; febrile seizures, 18m-first seizure; no sleep disturbances; oppositional and provocation; no short stature; no congenital heart defects; no gastrointestinal disturbance; no skeletal alterations; no visual impairment; no hearing impairment; no hypotonia; epicanthus; recurrent urinary tract infections; asthma; 3y-huge gain of weight" "" "3y6m" "" "" "" "" "" "NEDLBF" "neurodevelopmental delay" "0000345817" "05611" "00457354" "00006" "Isolated (sporadic)" "6y" "see paper; ..., birth 32w+6; prenatal IUGR, premature, anhydramnios after AROM with CAF; Infant feeding difficulties; failure to thrive; speech problems, 60 words in vocabulary; motor delay; speech regression; anxiety; trichotillomania; no macrocephaly; -(10th centile); MRI brain normal; EEG brain generalized high amplitude spikes, poly spike, slow wave discharges, bilateral OIRDA; convulsive seizure with flu; symptomatic generalized epilepsy, non-convulsive absence seizures; hyporeflexia; short stature; hypotonia; medial eyebrow flare, hypertelorism, wide nasal root, depressed nasal tip, high broad forehead; cutis marmorata" "" "6y" "" "" "" "" "" "NEDLBF" "neurodevelopmental delay" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000105039" "00104567" "1" "01836" "01836" "2017-05-15 14:44:49" "" "" "SEQ-NG" "DNA" "blood" "" "0000458920" "00457299" "1" "04770" "04770" "2024-11-06 01:53:57" "" "" "SEQ-NG" "DNA" "" "" "0000458964" "00457343" "1" "00006" "00006" "2024-11-08 11:01:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-trio" "0000458965" "00457344" "1" "00006" "00006" "2024-11-08 11:01:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-trio" "0000458966" "00457345" "1" "00006" "00006" "2024-11-08 11:01:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-trio" "0000458967" "00457346" "1" "00006" "00006" "2024-11-08 11:01:45" "00006" "2024-11-08 11:17:04" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "WES-trio" "0000458968" "00457347" "1" "00006" "00006" "2024-11-08 11:01:45" "00006" "2024-11-08 11:10:29" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "WES-trio" "0000458969" "00457348" "1" "00006" "00006" "2024-11-08 11:01:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-trio" "0000458970" "00457349" "1" "00006" "00006" "2024-11-08 11:01:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-trio" "0000458971" "00457350" "1" "00006" "00006" "2024-11-08 11:01:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-quad" "0000458972" "00457351" "1" "00006" "00006" "2024-11-08 11:01:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-trio" "0000458973" "00457352" "1" "00006" "00006" "2024-11-08 11:01:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-trio" "0000458974" "00457353" "1" "00006" "00006" "2024-11-08 11:01:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-trio" "0000458975" "00457354" "1" "00006" "00006" "2024-11-08 11:01:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-trio" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000105039" "CCDC160" "0000105039" "DNAH10" "0000105039" "MTMR8" "0000105039" "SLC44A3" "0000105039" "UBAP2L" "0000458920" "UBAP2L" ## 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 = 41 "{{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}}" "0000170295" "0" "50" "1" "154209088" "154209088" "subst" "0" "01836" "UBAP2L_000001" "g.154209088G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.154236612G>A" "" "VUS" "" "0000285066" "0" "90" "1" "154245843" "154245843" "subst" "0" "02326" "HAX1_000002" "g.154245843C>T" "" "" "" "HAX1(NM_006118.3):c.85C>T (p.R29*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154273367C>T" "" "pathogenic" "" "0000343431" "0" "90" "1" "154246014" "154246014" "subst" "1.62437E-5" "02327" "HAX1_000005" "g.154246014C>T" "" "" "" "HAX1(NM_006118.3):c.256C>T (p.R86*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154273538C>T" "" "pathogenic" "" "0000503495" "0" "50" "1" "154245875" "154245880" "dup" "0" "02325" "C1orf43_000001" "g.154245875_154245880dup" "" "" "" "HAX1(NM_006118.3):c.117_122dupAGAAGG (p.(Gly41_Gly42insGluGly)), HAX1(NM_006118.4):c.117_122dupAGAAGG (p.E40_G41dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154273399_154273404dup" "" "VUS" "" "0000503496" "0" "30" "1" "154245917" "154245917" "subst" "0.115546" "02325" "C1orf43_000002" "g.154245917T>C" "" "" "" "HAX1(NM_006118.4):c.159T>C (p.S53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154273441T>C" "" "likely benign" "" "0000503497" "0" "30" "1" "154245965" "154245965" "subst" "0.00256631" "01943" "C1orf43_000003" "g.154245965A>T" "" "" "" "HAX1(NM_006118.3):c.207A>T (p.P69=), HAX1(NM_006118.4):c.207A>T (p.(Pro69=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154273489A>T" "" "likely benign" "" "0000503498" "0" "30" "1" "154245965" "154245965" "subst" "0.00256631" "02326" "C1orf43_000003" "g.154245965A>T" "" "" "" "HAX1(NM_006118.3):c.207A>T (p.P69=), HAX1(NM_006118.4):c.207A>T (p.(Pro69=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154273489A>T" "" "likely benign" "" "0000503500" "0" "50" "1" "154246361" "154246361" "subst" "0.000235583" "01943" "C1orf43_000005" "g.154246361G>C" "" "" "" "HAX1(NM_006118.3):c.428G>C (p.G143A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154273885G>C" "" "VUS" "" "0000503501" "0" "50" "1" "154247434" "154247434" "subst" "0" "01804" "C1orf43_000006" "g.154247434T>G" "" "" "" "HAX1(NM_001018837.1):c.369T>G (p.(Asp123Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154274958T>G" "" "VUS" "" "0000604832" "0" "90" "1" "154245888" "154245889" "ins" "0" "01943" "C1orf43_000007" "g.154245888_154245889insA" "" "" "" "HAX1(NM_006118.3):c.130_131insA (p.W44*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154273412_154273413insA" "" "pathogenic" "" "0000653772" "0" "50" "1" "154247881" "154247881" "subst" "9.7458E-5" "01943" "C1orf43_000008" "g.154247881C>T" "" "" "" "HAX1(NM_006118.3):c.676C>T (p.R226C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154275405C>T" "" "VUS" "" "0000675490" "0" "90" "1" "154246014" "154246014" "subst" "1.62437E-5" "01943" "HAX1_000005" "g.154246014C>T" "" "" "" "HAX1(NM_006118.3):c.256C>T (p.R86*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000716870" "0" "50" "1" "154246369" "154246369" "subst" "0.000272141" "01943" "C1orf43_000009" "g.154246369G>A" "" "" "" "HAX1(NM_006118.3):c.436G>A (p.E146K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848314" "0" "30" "1" "154246356" "154246356" "subst" "3.24952E-5" "02326" "C1orf43_000011" "g.154246356T>C" "" "" "" "HAX1(NM_006118.3):c.423T>C (p.F141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857028" "0" "30" "1" "154245266" "154245266" "subst" "0.00191819" "02326" "C1orf43_000010" "g.154245266C>T" "" "" "" "HAX1(NM_006118.3):c.53+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857029" "0" "30" "1" "154247422" "154247422" "subst" "0.00016652" "01943" "C1orf43_000012" "g.154247422G>A" "" "" "" "HAX1(NM_006118.3):c.505-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857030" "0" "50" "1" "154247885" "154247885" "subst" "0" "01943" "C1orf43_000013" "g.154247885G>A" "" "" "" "HAX1(NM_006118.3):c.680G>A (p.R227Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882796" "0" "90" "1" "154245849" "154245849" "del" "0.00018285" "02327" "HAX1_000001" "g.154245849del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000973338" "0" "30" "1" "154227305" "154227306" "dup" "0" "01804" "C1orf43_000014" "g.154227305_154227306dup" "" "" "" "UBAP2L(NM_014847.4):c.1855-7_1855-6dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973339" "0" "50" "1" "154229855" "154229855" "subst" "0" "01804" "C1orf43_000015" "g.154229855C>T" "" "" "" "UBAP2L(NM_014847.4):c.2387C>T (p.(Pro796Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973340" "0" "50" "1" "154241440" "154241440" "subst" "4.0803E-6" "01804" "C1orf43_000016" "g.154241440C>A" "" "" "" "UBAP2L(NM_014847.4):c.3168+10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973341" "0" "30" "1" "154245965" "154245965" "subst" "0.00256631" "01804" "C1orf43_000003" "g.154245965A>T" "" "" "" "HAX1(NM_006118.3):c.207A>T (p.P69=), HAX1(NM_006118.4):c.207A>T (p.(Pro69=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973342" "0" "50" "1" "154248173" "154248173" "subst" "2.43881E-5" "01804" "C1orf43_000017" "g.154248173G>A" "" "" "" "HAX1(NM_006118.4):c.836G>A (p.(Arg279Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990360" "0" "50" "1" "154226392" "154226392" "subst" "1.21874E-5" "01804" "C1orf43_000018" "g.154226392A>G" "" "" "" "UBAP2L(NM_014847.3):c.1681A>G (p.(Ile561Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990361" "0" "30" "1" "154229695" "154229695" "subst" "0.000121853" "01804" "C1orf43_000019" "g.154229695G>C" "" "" "" "UBAP2L(NM_014847.3):c.2314G>C (p.(Val772Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990362" "0" "50" "1" "154245875" "154245880" "dup" "0" "01804" "C1orf43_000001" "g.154245875_154245880dup" "" "" "" "HAX1(NM_006118.3):c.117_122dupAGAAGG (p.(Gly41_Gly42insGluGly)), HAX1(NM_006118.4):c.117_122dupAGAAGG (p.E40_G41dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001016538" "21" "70" "1" "154231463" "154231464" "del" "0" "04770" "UBAP2L_000003" "g.154231463_154231464del" "" "" "" "cDNA.2620_2621delAT" "" "Germline" "" "" "0" "" "" "g.154258987_154258988del" "" "pathogenic (dominant)" "" "0001016625" "0" "90" "1" "154197687" "154197687" "subst" "0" "00006" "UBAP2L_000005" "g.154197687C>T" "" "{PMID:Jia 2022:35977029}" "" "" "" "De novo" "" "" "0" "" "" "g.154225211C>T" "" "pathogenic (dominant)" "" "0001016626" "0" "90" "1" "154207157" "154207157" "subst" "0" "00006" "UBAP2L_000006" "g.154207157C>T" "" "{PMID:Jia 2022:35977029}" "" "" "" "De novo" "" "" "0" "" "" "g.154234681C>T" "" "pathogenic (dominant)" "" "0001016627" "0" "90" "1" "154209059" "154209059" "subst" "0" "00006" "UBAP2L_000007" "g.154209059G>T" "" "{PMID:Jia 2022:35977029}" "" "" "" "De novo" "" "" "0" "" "" "g.154236583G>T" "" "pathogenic (dominant)" "" "0001016628" "0" "90" "1" "154209088" "154209088" "subst" "0" "00006" "UBAP2L_000001" "g.154209088G>A" "" "{PMID:Jia 2022:35977029}" "" "" "effect non splicing derived from mini-gene splicing assay" "De novo" "" "" "0" "" "" "g.154236612G>A" "" "pathogenic (dominant)" "" "0001016629" "0" "90" "1" "154209615" "154209615" "dup" "0" "00006" "UBAP2L_000004" "g.154209615dup" "" "{PMID:Jia 2022:35977029}" "" "" "effect non splicing derived from mini-gene splicing assay; karyotype 46,XX,t(9;17)(q21;p12)mat" "De novo" "" "" "0" "" "46,XX,t(9;17)(q21;p12)mat" "g.154237139dup" "" "pathogenic (dominant)" "" "0001016630" "0" "90" "1" "154226425" "154226425" "subst" "0" "00006" "UBAP2L_000008" "g.154226425C>T" "" "{PMID:Jia 2022:35977029}" "" "" "" "De novo" "" "" "0" "" "" "g.154253949C>T" "" "pathogenic (dominant)" "" "0001016631" "0" "90" "1" "154226557" "154226557" "subst" "0" "00006" "UBAP2L_000009" "g.154226557C>T" "" "{PMID:Jia 2022:35977029}" "" "" "" "De novo" "" "" "0" "" "" "g.154254081C>T" "" "pathogenic (dominant)" "" "0001016632" "0" "90" "1" "154227682" "154227682" "dup" "0" "00006" "UBAP2L_000010" "g.154227682dup" "" "{PMID:Jia 2022:35977029}" "" "" "" "De novo" "" "" "0" "" "" "g.154255206dup" "" "pathogenic (dominant)" "" "0001016633" "0" "90" "1" "154227683" "154227683" "del" "0" "00006" "UBAP2L_000011" "g.154227683del" "" "{PMID:Jia 2022:35977029}" "" "" "" "De novo" "" "" "0" "" "" "g.154255207del" "" "pathogenic (dominant)" "" "0001016634" "0" "90" "1" "154229539" "154229546" "del" "0" "00006" "UBAP2L_000012" "g.154229539_154229546del" "" "{PMID:Jia 2022:35977029}" "" "" "" "De novo" "" "" "0" "" "" "g.154257063_154257070del" "" "pathogenic (dominant)" "" "0001016635" "0" "90" "1" "154233513" "154233513" "subst" "0" "00006" "UBAP2L_000013" "g.154233513C>A" "" "{PMID:Jia 2022:35977029}" "" "" "" "De novo" "" "" "0" "" "" "g.154261037C>A" "" "pathogenic (dominant)" "" "0001016636" "0" "90" "1" "154241433" "154241433" "subst" "0" "00006" "UBAP2L_000014" "g.154241433A>G" "" "{PMID:Jia 2022:35977029}" "" "" "effect non splicing derived from mini-gene splicing assay" "De novo" "" "" "0" "" "" "g.154268957A>G" "" "pathogenic (dominant)" "" "0001031296" "0" "30" "1" "154215785" "154215785" "subst" "0.000736971" "01804" "C1orf43_000020" "g.154215785G>A" "" "" "" "UBAP2L(NM_014847.4):c.842+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031297" "0" "30" "1" "154227306" "154227306" "del" "0" "01804" "C1orf43_000021" "g.154227306del" "" "" "" "UBAP2L(NM_014847.4):c.1855-6del" "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 UBAP2L ## Count = 41 "{{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}}" "0000170295" "00022222" "50" "590" "1" "590" "1" "c.590+1G>A" "r.spl?" "p.?" "" "0000285066" "00022222" "90" "6336" "0" "6336" "0" "c.*3072C>T" "r.(=)" "p.(=)" "" "0000343431" "00022222" "90" "6507" "0" "6507" "0" "c.*3243C>T" "r.(=)" "p.(=)" "" "0000503495" "00022222" "50" "6368" "0" "6373" "0" "c.*3104_*3109dup" "r.(=)" "p.(=)" "" "0000503496" "00022222" "30" "6410" "0" "6410" "0" "c.*3146T>C" "r.(=)" "p.(=)" "" "0000503497" "00022222" "30" "6458" "0" "6458" "0" "c.*3194A>T" "r.(=)" "p.(=)" "" "0000503498" "00022222" "30" "6458" "0" "6458" "0" "c.*3194A>T" "r.(=)" "p.(=)" "" "0000503500" "00022222" "50" "6854" "0" "6854" "0" "c.*3590G>C" "r.(=)" "p.(=)" "" "0000503501" "00022222" "50" "7927" "0" "7927" "0" "c.*4663T>G" "r.(=)" "p.(=)" "" "0000604832" "00022222" "90" "6381" "0" "6382" "0" "c.*3117_*3118insA" "r.(=)" "p.(=)" "" "0000653772" "00022222" "50" "8374" "0" "8374" "0" "c.*5110C>T" "r.(=)" "p.(=)" "" "0000675490" "00022222" "90" "6507" "0" "6507" "0" "c.*3243C>T" "r.(=)" "p.(=)" "" "0000716870" "00022222" "50" "6862" "0" "6862" "0" "c.*3598G>A" "r.(=)" "p.(=)" "" "0000848314" "00022222" "30" "6849" "0" "6849" "0" "c.*3585T>C" "r.(=)" "p.(=)" "" "0000857028" "00022222" "30" "5759" "0" "5759" "0" "c.*2495C>T" "r.(=)" "p.(=)" "" "0000857029" "00022222" "30" "7915" "0" "7915" "0" "c.*4651G>A" "r.(=)" "p.(=)" "" "0000857030" "00022222" "50" "8378" "0" "8378" "0" "c.*5114G>A" "r.(=)" "p.(=)" "" "0000882796" "00022222" "90" "6342" "0" "6342" "0" "c.*3078del" "r.(?)" "p.(=)" "" "0000973338" "00022222" "30" "1855" "-7" "1855" "-6" "c.1855-7_1855-6dup" "r.(=)" "p.(=)" "" "0000973339" "00022222" "50" "2387" "0" "2387" "0" "c.2387C>T" "r.(?)" "p.(Pro796Leu)" "" "0000973340" "00022222" "50" "3168" "10" "3168" "10" "c.3168+10C>A" "r.(=)" "p.(=)" "" "0000973341" "00022222" "30" "6458" "0" "6458" "0" "c.*3194A>T" "r.(=)" "p.(=)" "" "0000973342" "00022222" "50" "8666" "0" "8666" "0" "c.*5402G>A" "r.(=)" "p.(=)" "" "0000990360" "00022222" "50" "1681" "0" "1681" "0" "c.1681A>G" "r.(?)" "p.(Ile561Val)" "" "0000990361" "00022222" "30" "2314" "0" "2314" "0" "c.2314G>C" "r.(?)" "p.(Val772Leu)" "" "0000990362" "00022222" "50" "6368" "0" "6373" "0" "c.*3104_*3109dup" "r.(=)" "p.(=)" "" "0001016538" "00022222" "70" "2453" "0" "2454" "0" "c.2453_2454del" "r.(?)" "p.(Tyr818TrpfsTer3)" "21" "0001016625" "00022222" "90" "88" "0" "88" "0" "c.88C>T" "r.(?)" "p.(Gln30Ter)" "" "0001016626" "00022222" "90" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124Ter)" "" "0001016627" "00022222" "90" "562" "0" "562" "0" "c.562G>T" "r.(?)" "p.(Gly188Ter)" "" "0001016628" "00022222" "90" "590" "1" "590" "1" "c.590+1G>A" "r.(545_590del)" "p.(Gly182GlufsTer78)" "" "0001016629" "00022222" "90" "703" "3" "703" "3" "c.703+3dup" "r.(591_703del)" "p.(Thr198CysfsTer12)" "" "0001016630" "00022222" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Gln572Ter)" "" "0001016631" "00022222" "90" "1846" "0" "1846" "0" "c.1846C>T" "r.(?)" "p.(Gln616Ter)" "" "0001016632" "00022222" "90" "1964" "0" "1964" "0" "c.1964dup" "r.(?)" "p.(Leu656SerfsTer3)" "" "0001016633" "00022222" "90" "1965" "0" "1965" "0" "c.1965del" "r.(?)" "p.(Leu656SerfsTer11)" "" "0001016634" "00022222" "90" "2158" "0" "2165" "0" "c.2158_2165del" "r.(?)" "p.(His720CysfsTer4)" "" "0001016635" "00022222" "90" "2724" "0" "2724" "0" "c.2724C>A" "r.(?)" "p.(Tyr908Ter)" "" "0001016636" "00022222" "90" "3168" "3" "3168" "3" "c.3168+3A>G" "r.(2971_3168)" "p.(Gln991_Gln1056del)" "" "0001031296" "00022222" "30" "842" "7" "842" "7" "c.842+7G>A" "r.(=)" "p.(=)" "" "0001031297" "00022222" "30" "1855" "-6" "1855" "-6" "c.1855-6del" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000105039" "0000170295" "0000458920" "0001016538" "0000458964" "0001016625" "0000458965" "0001016626" "0000458966" "0001016627" "0000458967" "0001016628" "0000458968" "0001016629" "0000458969" "0001016630" "0000458970" "0001016631" "0000458971" "0001016632" "0000458972" "0001016633" "0000458973" "0001016634" "0000458974" "0001016635" "0000458975" "0001016636"