### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EBF3) # 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}}" "EBF3" "early B-cell factor 3" "10" "q26.3" "unknown" "NG_030038.1" "UD_136023454325" "" "https://www.LOVD.nl/EBF3" "" "1" "19087" "253738" "607407" "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/EBF3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-04-15 08:31:12" "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}}" "00006832" "EBF3" "early B-cell factor 3" "001" "NM_001005463.2" "" "NP_001005463.1" "" "" "" "-59" "4353" "1656" "131762091" "131633496" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05921" "HADDS" "hypotonia, ataxia, and delayed development syndrome (HADDS)" "AD" "617330" "" "" "" "00006" "2021-04-15 08:29:47" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "EBF3" "05921" ## Individuals ## Do not remove or alter this header ## ## Count = 27 "{{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}}" "00050476" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00103890" "" "" "" "1" "" "00006" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "United States" "" "0" "" "" "" "28327206-PatBH5789_1" "00143202" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00362037" "" "" "" "3" "" "00006" "{PMID:Harms 2007:28017373}" "family, mother with 2 affected sibs" "F" "" "" "" "0" "" "" "" "Fam1mother" "00362038" "" "" "00362037" "1" "" "00006" "{PMID:Harms 2007:28017373}" "sib1" "F" "" "" "" "0" "" "" "" "Fam1Pat1" "00362039" "" "" "00362037" "1" "" "00006" "{PMID:Harms 2007:28017373}" "sib2" "M" "" "" "" "0" "" "" "" "Fam1Pat2" "00362040" "" "" "" "1" "" "00006" "{PMID:Harms 2007:28017373}" "" "M" "" "" "" "0" "" "" "" "Fam2Pat3" "00362041" "" "" "" "1" "" "00006" "{PMID:Harms 2007:28017373}" "" "M" "" "" "" "0" "" "" "" "Fam3Pat4" "00362042" "" "" "" "1" "" "00006" "{PMID:Harms 2007:28017373}" "" "M" "" "" "" "0" "" "" "" "Fam4Pat5" "00362043" "" "" "" "1" "" "00006" "{PMID:Harms 2007:28017373}" "" "F" "" "" "" "0" "" "" "" "Fam5Pat6" "00362044" "" "" "" "1" "" "00006" "{PMID:Harms 2007:28017373}" "" "M" "" "" "" "0" "" "" "" "Fam6Pat7" "00362045" "" "" "" "1" "" "00006" "{PMID:Harms 2007:28017373}" "" "F" "" "" "" "0" "" "" "" "Fam7Pat8" "00362046" "" "" "" "1" "" "00006" "{PMID:Harms 2007:28017373}" "" "F" "" "" "" "0" "" "" "" "Fam8Pat9" "00362047" "" "" "" "1" "" "00006" "{PMID:Harms 2007:28017373}" "" "M" "" "" "" "0" "" "" "" "Fam9Pat10" "00362048" "" "" "" "1" "" "00006" "{PMID:Sleven 2007:28017370}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Pat1 (272588)" "00362049" "" "" "" "1" "" "00006" "{PMID:Sleven 2007:28017370}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white;Caribbean" "Pat2 (280219)" "00362050" "" "" "" "1" "" "00006" "{PMID:Sleven 2007:28017370}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Pat3 (265391)" "00362051" "" "" "" "1" "" "00006" "{PMID:Sleven 2007:28017370}" "" "F" "" "Ireland" "" "0" "" "" "" "Pat4 (262955)" "00362052" "" "" "" "1" "" "00006" "{PMID:Sleven 2007:28017370}" "" "F" "" "England" "" "0" "" "" "" "Pat5 (263361)" "00362053" "" "" "" "1" "" "00006" "{PMID:Sleven 2007:28017370}" "" "F" "" "Ireland" "" "0" "" "" "" "Pat6 (279995)" "00362054" "" "" "" "2" "" "00006" "{PMID:Sleven 2007:28017370}" "family, 2 affected sibs" "M" "" "India" "" "0" "" "" "" "Pat7 (67-1)" "00362055" "" "" "00362054" "1" "" "00006" "{PMID:Sleven 2007:28017370}" "sib" "F" "" "India" "" "0" "" "" "" "Pat8 (67-4)" "00362056" "" "" "" "1" "" "00006" "{PMID:Chao 2017:28017372}" "" "M" "" "China;Japan" "" "0" "" "" "" "Pat1" "00362057" "" "" "" "1" "" "00006" "{PMID:Chao 2017:28017372}" "" "F" "" "United States" "" "0" "" "" "African-American" "Pat2" "00362058" "" "" "" "1" "" "00006" "{PMID:Chao 2017:28017372}" "" "" "" "United States" "" "0" "" "" "white" "Pat3" "00416024" "" "" "" "1" "" "01164" "" "" "F" "no" "France" "" "0" "" "" "" "203865" "00434128" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "234550" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 27 "{{individualid}}" "{{diseaseid}}" "00050476" "00198" "00103890" "00198" "00143202" "00198" "00362037" "00198" "00362038" "00198" "00362039" "00198" "00362040" "00198" "00362041" "00198" "00362042" "00198" "00362043" "00198" "00362044" "00198" "00362045" "00198" "00362046" "00198" "00362047" "00198" "00362048" "00198" "00362049" "00198" "00362050" "00198" "00362051" "00198" "00362052" "00198" "00362053" "00198" "00362054" "00198" "00362055" "00198" "00362056" "00198" "00362057" "00198" "00362058" "00198" "00416024" "05921" "00434128" "05921" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05921 ## Count = 27 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037088" "00198" "00050476" "00006" "Unknown" "" "clinodactyly of the 5th finger, specific learning disability, joint hypermobility, lumbar hyperlordosis, gingival overgrowth" "" "" "" "" "" "" "" "" "" "" "" "0000081817" "00198" "00103890" "00006" "Isolated (sporadic)" "" "motor regression, hypotonia, wide-based gait, neurogenic bladder, dysplastic kidney" "" "" "" "" "" "" "" "" "" "" "" "0000115954" "00198" "00143202" "01807" "Unknown" "" "Gait ataxia (HP:0002066); Delayed speech and language development (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "0000257450" "00198" "00362037" "00006" "Unknown" "33y" "no intellectual disability; no motor developmental delay; no speech delay; no ataxia; no seizures; normal tone; long face; deep philtrum; tall forehead; high nasal bridge; straight eyebrows; no strabismus; low set ears, posteriorly rotated ears; short and broad chin" "" "" "" "" "" "" "" "" "" "" "" "0000257451" "00198" "00362038" "00006" "Familial, autosomal dominant" "9y3m" "intellectual disability; motor developmental delay; speech delay; ataxia; seizures; normal tone; MRI brain normal; long face; deep philtrum; tall forehead; high nasal bridge; straight eyebrows; strabismus; low set ears, posteriorly rotated ears, small ear lobes; short and broad chin; thick vermillion of upper and lower lips" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000257452" "00198" "00362039" "00006" "Familial, autosomal dominant" "3y4m" "intellectual disability; motor developmental delay; speech delay; ataxia; seizures; normal tone; long face; deep philtrum; tall forehead; high nasal bridge; straight eyebrows; strabismus; low set ears, posteriorly rotated ears; short and broad chin" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000257453" "00198" "00362040" "00006" "Isolated (sporadic)" "5y9m" "intellectual disability; motor developmental delay; speech delay; ataxia; no seizures; mild hypotonia in early childhood, now normal tone; MRI brain normal; no long face; no deep philtrum; no tall forehead; no high nasal bridge; no straight eyebrows; strabismus; normal ears; normal chin; small mouth, short philtrum, micrognathia; syndactyly of the second and third toes, inguinal hernia (repaired)" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000257454" "00198" "00362041" "00006" "Isolated (sporadic)" "16y6m" "intellectual disability; motor developmental delay; speech delay; ataxia; no seizures; normal tone; MRI brain cerebellar vermian hypoplasia; long face; deep philtrum; tall forehead; high nasal bridge; straight eyebrows; strabismus; small ear lobes; short and broad chin; thick vermillion of upper and lower lips; dysarthria, pectus excavatum, thin and scooped nails, orchiopexy for undescended testicles, very mild hypospadias, strabismus surgery, intoeing due to femoral anteversion, attention deficit disorder, gastroesophageal reflux, possible eosinophilic esophagitis" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000257455" "00198" "00362042" "00006" "Isolated (sporadic)" "4y6m" "intellectual disability; motor developmental delay; speech delay; no seizures; truncal hypotonia; MRI brain normal; strabismus; flat nasal bridge" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000257456" "00198" "00362043" "00006" "Isolated (sporadic)" "2y7m" "intellectual disability; motor developmental delay; speech delay; ataxia; no seizures; truncal hypotonia; MRI brain normal; deep philtrum; tall forehead; strabismus; relative macrocephaly, upward-slanting palpebral fissures, long eyelashes, straight hair" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000257457" "00198" "00362044" "00006" "Isolated (sporadic)" "1y11m" "intellectual disability; motor developmental delay; speech delay; no ataxia; no seizures; hypotonia; MRI brain normal; no long face; no deep philtrum; no tall forehead; no high nasal bridge; no straight eyebrows; strabismus; normal ears; normal chin; hypertelorism; congenital heart disease (atrial septal defect)" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000257458" "00198" "00362045" "00006" "Isolated (sporadic)" "13y" "intellectual disability; motor developmental delay; speech delay; wide-based bent knee, dystonic gait; hypotonia as infant, dystonia now; MRI brain normal; long face; deep philtrum; tall forehead; high nasal bridge; no straight eyebrows; strabismus; normal ears; prominent chin; facial asymmetry, submucous cleft palate; complete (right) and partial (left) syndactyly of the second and third toes, limited facial expression, neurogenic bladder (vesicostomy), feeding difficulties, swallowing of semisolid food only, mild scoliosis, dysplastic right kidney, bilateral vesicoureteric reflux, megacolon with intractable constipation, severe hip and knee contractures" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000257459" "00198" "00362046" "00006" "Isolated (sporadic)" "25y" "intellectual disability; motor developmental delay; speech delay; no ataxia; no seizures; normal tone; long face; no deep philtrum; tall forehead; high nasal bridge; no straight eyebrows; no strabismus; broad chin; upward-slanting palpebral fissures, broad nasal bridge, smooth philtrum, thin upper lip, chin dimple" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000257460" "00198" "00362047" "00006" "Isolated (sporadic)" "3y5m" "intellectual disability; motor developmental delay; speech delay; no seizures; truncal hypotonia; MRI brain cerebellar vermian hypoplasia; no long face; no deep philtrum; no tall forehead; no high nasal bridge; straight eyebrows; strabismus; low set ears; normal chin; thin lower lip; bilateral talipes equinovarus, phimosis, recurrent lower urinary-tract infections, constipation" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000257461" "00198" "00362048" "00006" "Isolated (sporadic)" "13y" "developmental delay; short stature 3 SDs below mean, proportionate; dolichocephaly, prominent forehead and occiput, deep-set eyes; left cryptorchidism, pectus excavatum, tapering fingers, pes planus, shortened great toes; gait ataxia; truncal ataxia; hypotonia; dysarthria; no tremor (postural, intention); no seizures, EEG normal; microcephaly (75th–91st percentile); high-pitched voice; no nystagmus; no saccadic abnormalities; no jerky eye movements; strabismus (esotropia); 2y-stand; 5y8m-walk; 6 years, 6 months; speech 50 words, just putting two words together; special school, intellectual disability (IQ71); no problems reported; MRI brain described as cerebellar cleft or absent vermis, cerebellar atrophy suggested from comparison of scans at ages 1 and 5 years, atrophy of pontine tegmentum" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000257462" "00198" "00362049" "00006" "Isolated (sporadic)" "7y" "developmental delay, hypermobile, ataxia; normal stature, weight 75th percentile, height 50th–70th percentile; hypertelorism; gait ataxia; truncal ataxia , but not prominent; hypotonia; mild dysarthria; no seizures, EEG normal; microcephaly (50th–75th percentile); high pain threshold; no nystagmus; slow eye movements; no jerky eye movements; strabismus; 9m-sit; 19m-stand; 24m-walk; 20 months; mild speech delay; mainstream school; mild emotional and behavioral difficulties and attention deficit; MRI brain normal" "" "" "" "" "" "" "" "" "" "developmental delay, hypermobile, ataxia" "" "0000257463" "00198" "00362050" "00006" "Isolated (sporadic)" "8y4m" "developmental delay, hypotonia; mild proportionate short stature, height and weight below 0.4th percentile, no hormone investigations; broad forehead, straight eyebrows, tubular-shaped nose, broad nasal tip, small mouth with a slightly thin upper lip, and low-set, posteriorly rotated ears; fullness on backs of hands, short tapering fingers, clinodactyly of fifth finger, short toes; poor balance; no truncal ataxia; hypotonia; no dysarthria; no tremor (postural, intention); abnormal movements, EEG inconclusive; microcephaly; intermittent nystagmus on upgaze; no saccadic abnormalities; no jerky eye movements; left convergent squint; 2y-stand; >4y-walk; 3 years, slightly slurred, needs speech and language therapy; mild speech delay; mainstream school with 1:1 support; behavioral difficulties; first MRI non-specific features and delayed global myelination, repeat normal" "" "" "" "" "" "" "" "" "" "developmental delay, hypotonia" "" "0000257464" "00198" "00362051" "00006" "Isolated (sporadic)" "" "developmental delay, hypotonia, poor feeding; short stature, proportionate; broad deep forehead, synophrys, hypertelorism, upslanting palpebral fissures, irregular dentition, downturned mouth, short neck, minimal facial expression; bilateral moderately severe vesicoureteric reflux and fixed talipes equinovarus, severe FTT, severe cyclical vomiting from 9 weeks; difficult to assess because of talipes; no apparent truncal ataxia; hypotonia; no dysarthria; no tremor (postural, intention); EEG: intermittent slow activity with occipital sharp features, nil epileptiform; no microcephaly; minimal facial expression; no nystagmus; no saccadic abnormalities; no jerky eye movements; blue sclerae, absent tears, left convergent strabismus; 2y-head control; 30m-sit; 4y-stand; not walking; first single words by 7 years, <20 single words by 10.5 years; speech <20 single words; special school; very placid; MRI brain cerebellar arachnoid cyst considered unlikely to be of clinical significance" "" "" "" "" "" "" "" "" "" "developmental delay, hypotonia, poor feeding" "" "0000257465" "00198" "00362052" "00006" "Isolated (sporadic)" "8y5m" "hypotonia, poor feeding; height, weight, and OFC all below 0.3rd percentile; deep-set eyes; vesicoureteric reflux, recurrent urinary-tract infections, neurogenic bladder, constipation; gait ataxia; no truncal ataxia; hypotonia; dysarthria; no tremor (postural, intention); single febrile seizure; no microcephaly; no nystagmus; no saccadic abnormalities; no jerky eye movements; strabismus; 12m-sit; 32m-walk; 40 single words by 3 years; speech sentences, some echolalia; special school; normal behavior; MRI brain subtle dysplasia cerebellar cortex" "" "" "" "" "" "" "" "" "" "hypotonia, poor feeding" "" "0000257466" "00198" "00362053" "00006" "Isolated (sporadic)" "4y8m" "hypotonia; no short stature; normal face; vesicoureteric reflux and renal dysplasia, recurrent urinary-tract infections; 4y-gait ataxia; truncal ataxia; hypotonia; no dysarthria; no tremor (postural, intention); recent episodes suggestive of seizures are being analyzed by video telemetry; progressive microcephaly; nystagmus; no saccadic abnormalities; no jerky eye movements; Duane anomaly; 18m-head control; 2y-sit; not standing; not walking; no speech; special school; normal behavior; MRI brain normal" "" "" "" "" "" "" "" "" "" "hypotonia" "" "0000257467" "00198" "00362054" "00006" "Isolated (sporadic)" "14y" "hypotonia, gross motor delays; no short stature; deep-set eyes, thick eyebrows,; gait ataxia; truncal ataxia; hypotonia; no dysarthria; intention tremor; no seizures, EEG normal; no microcephaly; no nystagmus; no saccadic abnormalities; no jerky eye movements; 8m-sit; 18m-walk; first word at 19 months; normal speech; mainstream school; attentional and mild behavioral challenges; MRI brain normal" "" "" "" "" "" "" "" "" "" "hypotonia, gross motor delays" "" "0000257468" "00198" "00362055" "00006" "Isolated (sporadic)" "9y" "hypotonia, delayed gross motor skills; no short stature; deep-set eyes, thick eyebrows; gait ataxia; truncal ataxia; hypotonia; no dysarthria; no tremor (postural, intention); no seizures, EEG normal; no microcephaly; no nystagmus; no saccadic abnormalities; no jerky eye movements; 8-9m-sit; 16m-walk; first word after 2 years, 10 words by 2.5 years; normal speech; mainstream school; attentional challenges; MRI brain normal" "" "" "" "" "" "" "" "" "" "hypotonia, delayed gross motor skills" "" "0000257469" "00198" "00362056" "00006" "Isolated (sporadic)" "7y" "see paper; ...,expressive speech delay, mild dysmorphic facial features, hypotonia, global developmental delay, genital hypoplasia" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000257470" "00198" "00362057" "00006" "Isolated (sporadic)" "5y" "see paper; ..., expressive speech delay, mild dysmorphic facial features, hypotonia, global developmental delay" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000257471" "00198" "00362058" "00006" "Isolated (sporadic)" "3y" "see paper; ..., expressive speech delay, mild dysmorphic facial features, hypotonia, global developmental delay" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000307790" "05921" "00416024" "01164" "Isolated (sporadic)" "26y" "Initial suspicion of Cornelia de Lange syndrom, psychiatric disorder, mood disorder, no intellectual disability, no microcephaly, no limb abnormality, no facial dysmorphism" "" "" "" "" "" "" "" "" "" "" "" "0000324482" "05921" "00434128" "01164" "Isolated (sporadic)" "01y" "Global developmental delay, Ataxia, Hypotonia, Strabismus, Absent speech" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 27 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050421" "00050476" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000104348" "00103890" "1" "00006" "00006" "2017-04-22 16:52:53" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000144059" "00143202" "0" "01807" "01807" "2017-11-30 19:09:14" "" "" "SEQ" "DNA" "" "" "0000363265" "00362037" "1" "00006" "00006" "2021-04-15 11:18:09" "" "" "SEQ-NG" "DNA" "" "" "0000363266" "00362038" "1" "00006" "00006" "2021-04-15 11:18:09" "" "" "SEQ-NG" "DNA" "" "" "0000363267" "00362039" "1" "00006" "00006" "2021-04-15 11:18:09" "" "" "SEQ-NG" "DNA" "" "" "0000363268" "00362040" "1" "00006" "00006" "2021-04-15 11:18:09" "" "" "SEQ-NG" "DNA" "" "" "0000363269" "00362041" "1" "00006" "00006" "2021-04-15 11:18:09" "" "" "SEQ-NG" "DNA" "" "" "0000363270" "00362042" "1" "00006" "00006" "2021-04-15 11:18:09" "" "" "SEQ-NG" "DNA" "" "" "0000363271" "00362043" "1" "00006" "00006" "2021-04-15 11:18:09" "" "" "SEQ-NG" "DNA" "" "" "0000363272" "00362044" "1" "00006" "00006" "2021-04-15 11:18:09" "" "" "SEQ-NG" "DNA" "" "" "0000363273" "00362045" "1" "00006" "00006" "2021-04-15 11:18:09" "" "" "SEQ-NG" "DNA" "" "" "0000363274" "00362046" "1" "00006" "00006" "2021-04-15 11:18:09" "" "" "SEQ-NG" "DNA" "" "" "0000363275" "00362047" "1" "00006" "00006" "2021-04-15 11:18:09" "" "" "SEQ-NG" "DNA" "" "" "0000363276" "00362048" "1" "00006" "00006" "2021-04-15 11:18:09" "" "" "SEQ-NG" "DNA" "" "" "0000363277" "00362049" "1" "00006" "00006" "2021-04-15 11:18:09" "" "" "SEQ-NG" "DNA" "" "" "0000363278" "00362050" "1" "00006" "00006" "2021-04-15 11:18:09" "" "" "SEQ-NG" "DNA" "" "" "0000363279" "00362051" "1" "00006" "00006" "2021-04-15 11:18:09" "" "" "SEQ-NG" "DNA" "" "" "0000363280" "00362052" "1" "00006" "00006" "2021-04-15 11:18:09" "" "" "SEQ-NG" "DNA" "" "" "0000363281" "00362053" "1" "00006" "00006" "2021-04-15 11:18:09" "" "" "SEQ-NG" "DNA" "" "" "0000363282" "00362054" "1" "00006" "00006" "2021-04-15 11:18:09" "" "" "SEQ-NG" "DNA" "" "" "0000363283" "00362055" "1" "00006" "00006" "2021-04-15 11:18:09" "" "" "SEQ-NG" "DNA" "" "" "0000363284" "00362056" "1" "00006" "00006" "2021-04-15 11:18:09" "" "" "SEQ-NG" "DNA" "" "" "0000363285" "00362057" "1" "00006" "00006" "2021-04-15 11:18:09" "" "" "SEQ-NG" "DNA" "" "" "0000363286" "00362058" "1" "00006" "00006" "2021-04-15 11:18:09" "" "" "SEQ-NG" "DNA" "" "" "0000417305" "00416024" "1" "01164" "01164" "2022-08-22 10:22:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000435595" "00434128" "1" "01164" "01164" "2023-03-20 14:55:03" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000104348" "EBF3" "0000417305" "EBF3" "0000435595" "EBF3" ## 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 = 67 "{{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}}" "0000079401" "0" "90" "10" "123150811" "135380935" "dup" "0" "00006" "ACADSB_000015" "g.123150811_135380935dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000169028" "1" "90" "10" "131755564" "131755564" "subst" "0" "00006" "EBF3_000001" "g.131755564C>T" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "De novo" "" "" "0" "" "" "g.129957300C>T" "" "pathogenic" "" "0000234498" "0" "70" "10" "131640542" "131640542" "subst" "0" "01807" "EBF3_000002" "g.131640542G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.129842278G>A" "" "likely pathogenic" "" "0000342583" "0" "90" "10" "131665510" "131665510" "subst" "0" "02327" "EBF3_000003" "g.131665510G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129867246G>A" "" "pathogenic" "" "0000539515" "0" "30" "10" "131640376" "131640376" "subst" "1.21898E-5" "01804" "EBF3_000005" "g.131640376A>G" "" "" "" "EBF3(NM_001005463.2):c.1345+4T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129842112A>G" "" "likely benign" "" "0000539517" "0" "50" "10" "131646727" "131646727" "subst" "4.06055E-6" "02327" "EBF3_000006" "g.131646727T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129848463T>C" "" "VUS" "" "0000539519" "0" "30" "10" "131665509" "131665509" "subst" "0" "02327" "EBF3_000007" "g.131665509C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129867245C>T" "" "likely benign" "" "0000539520" "0" "70" "10" "131671806" "131671808" "del" "0" "02327" "EBF3_000008" "g.131671806_131671808del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129873542_129873544del" "" "likely pathogenic" "" "0000539522" "0" "50" "10" "131755523" "131755523" "subst" "0" "02327" "EBF3_000009" "g.131755523T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129957259T>C" "" "VUS" "" "0000612366" "0" "50" "10" "131671761" "131671761" "subst" "0" "02325" "EBF3_000010" "g.131671761G>A" "" "" "" "EBF3(NM_001005463.3):c.736C>T (p.R246C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129873497G>A" "" "VUS" "" "0000656449" "0" "50" "10" "131676113" "131676113" "subst" "0" "02325" "EBF3_000011" "g.131676113T>A" "" "" "" "EBF3(NM_001005463.3):c.555A>T (p.R185S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129877849T>A" "" "VUS" "" "0000690680" "0" "70" "10" "131761735" "131761735" "subst" "0" "02327" "EBF3_000012" "g.131761735G>A" "" "" "" "EBF3(NM_001375380.1):c.187C>T (p.R63W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000763839" "0" "90" "10" "131676043" "131676043" "=" "0" "00006" "EBF3_000015" "g.131676043=/G>A" "" "{PMID:Harms 2007:28017373}" "" "" "somatic mosaicism in patient" "Somatic" "" "" "0" "" "" "g.129877779=/G>A" "" "pathogenic (dominant)" "" "0000763840" "21" "90" "10" "131676043" "131676043" "subst" "0" "00006" "EBF3_000016" "g.131676043G>A" "" "{PMID:Harms 2007:28017373}" "" "" "" "Germline" "" "" "0" "" "" "g.129877779G>A" "" "pathogenic (dominant)" "" "0000763841" "21" "90" "10" "131676043" "131676043" "subst" "0" "00006" "EBF3_000016" "g.131676043G>A" "" "{PMID:Harms 2007:28017373}" "" "" "" "Germline" "" "" "0" "" "" "g.129877779G>A" "" "pathogenic (dominant)" "" "0000763842" "0" "90" "10" "131665504" "131665504" "subst" "0" "00006" "EBF3_000014" "g.131665504G>A" "" "{PMID:Harms 2007:28017373}" "" "" "" "De novo" "" "" "0" "" "" "g.129867240G>A" "" "pathogenic (dominant)" "" "0000763843" "0" "90" "10" "131761726" "131761726" "subst" "0" "00006" "EBF3_000028" "g.131761726T>C" "" "{PMID:Harms 2007:28017373}" "" "" "" "De novo" "" "" "0" "" "" "g.129963462T>C" "" "pathogenic (dominant)" "" "0000763844" "0" "90" "10" "131646655" "131646655" "subst" "0" "00006" "EBF3_000013" "g.131646655C>A" "" "{PMID:Harms 2007:28017373}" "" "" "" "De novo" "" "" "0" "" "" "g.129848391C>A" "" "pathogenic (dominant)" "" "0000763845" "0" "90" "10" "131755546" "131755546" "subst" "0" "00006" "EBF3_000020" "g.131755546G>A" "" "{PMID:Harms 2007:28017373}" "" "" "" "De novo" "" "" "0" "" "" "g.129957282G>A" "" "pathogenic (dominant)" "" "0000763846" "0" "90" "10" "131757261" "131757261" "subst" "0" "00006" "EBF3_000025" "g.131757261T>C" "" "{PMID:Harms 2007:28017373}" "" "" "" "De novo" "" "" "0" "" "" "g.129958997T>C" "" "pathogenic (dominant)" "" "0000763847" "0" "90" "10" "131755564" "131755564" "subst" "0" "00006" "EBF3_000001" "g.131755564C>T" "" "{PMID:Harms 2007:28017373}" "" "" "" "De novo" "" "" "0" "" "" "g.129957300C>T" "" "pathogenic (dominant)" "" "0000763848" "0" "90" "10" "131665510" "131665510" "subst" "0" "00006" "EBF3_000003" "g.131665510G>A" "" "{PMID:Harms 2007:28017373}" "" "" "" "De novo" "" "" "0" "" "" "g.129867246G>A" "" "pathogenic (dominant)" "" "0000763849" "0" "90" "10" "131757207" "131757215" "dup" "0" "00006" "EBF3_000024" "g.131757207_131757215dup" "" "{PMID:Harms 2007:28017373}" "" "" "" "De novo" "" "" "0" "" "" "g.129958943_129958951dup" "" "pathogenic (dominant)" "" "0000763850" "0" "90" "10" "131755588" "131755588" "subst" "0" "00006" "EBF3_000021" "g.131755588C>G" "" "{PMID:Sleven 2007:28017370}" "" "" "" "De novo" "" "" "0" "" "" "g.129957324C>G" "" "pathogenic (dominant)" "" "0000763851" "0" "90" "10" "131755546" "131755546" "subst" "0" "00006" "EBF3_000020" "g.131755546G>A" "" "{PMID:Sleven 2007:28017370}" "" "" "" "De novo" "" "" "0" "" "" "g.129957282G>A" "" "pathogenic (dominant)" "" "0000763852" "0" "90" "10" "131761205" "131761205" "subst" "0" "00006" "EBF3_000026" "g.131761205C>G" "" "{PMID:Sleven 2007:28017370}" "" "" "" "De novo" "" "" "0" "" "" "g.129962941C>G" "" "pathogenic (dominant)" "" "0000763853" "0" "90" "10" "131676089" "131676089" "subst" "0" "00006" "EBF3_000018" "g.131676089C>A" "" "{PMID:Sleven 2007:28017370}" "" "" "" "De novo" "" "" "0" "" "" "g.129877825C>A" "" "pathogenic (dominant)" "" "0000763854" "0" "90" "10" "131761639" "131761642" "del" "0" "00006" "EBF3_000027" "g.131761639_131761642del" "" "{PMID:Sleven 2007:28017370}" "" "" "" "De novo" "" "" "0" "" "" "g.129963375_129963378del" "" "pathogenic (dominant)" "" "0000763855" "0" "90" "10" "131755521" "131755521" "subst" "0" "00006" "EBF3_000019" "g.131755521C>T" "" "{PMID:Sleven 2007:28017370}" "" "" "" "De novo" "" "" "0" "" "" "g.129957257C>T" "" "pathogenic (dominant)" "" "0000763856" "0" "90" "10" "131676052" "131676052" "subst" "0" "00006" "EBF3_000017" "g.131676052G>A" "" "{PMID:Sleven 2007:28017370}" "" "" "" "De novo" "" "" "0" "" "" "g.129877788G>A" "" "pathogenic (dominant)" "" "0000763857" "0" "90" "10" "131676052" "131676052" "subst" "0" "00006" "EBF3_000017" "g.131676052G>A" "" "{PMID:Sleven 2007:28017370}" "" "" "" "De novo" "" "" "0" "" "" "g.129877788G>A" "" "pathogenic (dominant)" "" "0000763858" "0" "90" "10" "131755588" "131755588" "subst" "0" "00006" "EBF3_000022" "g.131755588C>T" "" "{PMID:Chao 2017:28017372}" "" "" "" "De novo" "" "" "0" "" "" "g.129957324C>T" "" "pathogenic (dominant)" "" "0000763859" "0" "90" "10" "131755588" "131755588" "subst" "0" "00006" "EBF3_000022" "g.131755588C>T" "" "{PMID:Chao 2017:28017372}" "" "" "" "De novo" "" "" "0" "" "" "g.129957324C>T" "" "pathogenic (dominant)" "" "0000763860" "0" "90" "10" "131755588" "131755588" "subst" "0" "00006" "EBF3_000023" "g.131755588C>A" "" "{PMID:Chao 2017:28017372}" "" "" "" "De novo" "" "" "0" "" "" "g.129957324C>A" "" "pathogenic (dominant)" "" "0000804344" "0" "50" "10" "131639199" "131639199" "subst" "0" "02329" "EBF3_000029" "g.131639199C>T" "" "" "" "EBF3(NM_001005463.2):c.1443G>A (p.M481I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852439" "0" "50" "10" "131638542" "131638542" "subst" "0" "02327" "EBF3_000030" "g.131638542A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000876940" "0" "70" "10" "131665500" "131665500" "dup" "0" "01164" "EBF3_000031" "g.131665500dup" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "0" "" "" "g.129867236dup" "" "likely pathogenic (dominant)" "ACMG" "0000889062" "0" "50" "10" "131639110" "131639119" "del" "0" "02327" "EBF3_000032" "g.131639110_131639119del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889063" "0" "30" "10" "131639312" "131639315" "dup" "0" "02326" "EBF3_000033" "g.131639312_131639315dup" "" "" "" "EBF3(NM_001005463.3):c.1346-14_1346-11dupGGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889064" "0" "30" "10" "131639313" "131639315" "dup" "0" "02326" "EBF3_000034" "g.131639313_131639315dup" "" "" "" "EBF3(NM_001005463.3):c.1346-13_1346-11dupGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889066" "0" "90" "10" "131671811" "131671811" "subst" "0" "02327" "EBF3_000035" "g.131671811G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000889067" "0" "70" "10" "131757192" "131757198" "del" "0" "02325" "EBF3_000036" "g.131757192_131757198del" "" "" "" "EBF3(NM_001005463.3):c.485+2_485+8delTGAGCGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000889068" "0" "90" "10" "131757261" "131757261" "subst" "0" "02329" "EBF3_000025" "g.131757261T>C" "" "" "" "EBF3(NM_001005463.3):c.422A>G (p.Y141C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000913246" "0" "50" "10" "131671752" "131671752" "subst" "0" "02325" "EBF3_000037" "g.131671752G>C" "" "" "" "EBF3(NM_001005463.3):c.745C>G (p.P249A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000921749" "0" "70" "10" "131755588" "131755588" "subst" "0" "01164" "EBF3_000021" "g.131755588C>G" "" "" "" "" "ACMG: PS2, PS3_MOD, PM5, PS4_SUP, PM2_SUP, PP2; confirmed de novo in trio-exome; PMID: 28017370: de novo in at least 2 individuals with HADDS / PMID: 28017372: p.Arg163Gln/Leu described as recurrent pathogenic de novo variants" "De novo" "-" "" "0" "" "" "" "VCV000375500.3" "pathogenic (dominant)" "ACMG" "0000949366" "0" "50" "10" "131666063" "131666063" "subst" "1.21869E-5" "02325" "EBF3_000038" "g.131666063T>A" "" "" "" "EBF3(NM_001005463.2):c.868A>T (p.(Met290Leu)), EBF3(NM_001005463.3):c.868A>T (p.M290L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965662" "0" "90" "10" "131639261" "131639261" "subst" "4.06696E-6" "02327" "EBF3_000039" "g.131639261G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000965663" "0" "30" "10" "131639314" "131639315" "dup" "0" "02326" "EBF3_000040" "g.131639314_131639315dup" "" "" "" "EBF3(NM_001005463.3):c.1346-12_1346-11dupGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978959" "0" "50" "10" "131638509" "131638509" "subst" "5.69677E-6" "01804" "EBF3_000041" "g.131638509C>T" "" "" "" "EBF3(NM_001375380.1):c.1759G>A (p.(Gly587Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978960" "0" "90" "10" "131640542" "131640542" "subst" "0" "01804" "EBF3_000002" "g.131640542G>A" "" "" "" "EBF3(NM_001375380.1):c.1210C>T (p.(Arg404Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000978961" "0" "30" "10" "131666038" "131666038" "subst" "1.62898E-5" "01804" "EBF3_000042" "g.131666038G>A" "" "" "" "EBF3(NM_001375380.1):c.912+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978962" "0" "70" "10" "131676080" "131676080" "subst" "0" "01804" "EBF3_000043" "g.131676080C>A" "" "" "" "EBF3(NM_001375380.1):c.588G>T (p.(Gln196His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000978963" "0" "30" "10" "131755595" "131755595" "subst" "6.13271E-5" "01804" "EBF3_000044" "g.131755595G>A" "" "" "" "EBF3(NM_001375380.1):c.486-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978964" "0" "30" "10" "131760502" "131760503" "del" "0" "02326" "EBF3_000045" "g.131760502_131760503del" "" "" "" "EBF3(NM_001005463.3):c.356-12_356-11delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998202" "0" "30" "10" "131636194" "131636194" "subst" "2.43673E-5" "01804" "EBF3_000046" "g.131636194C>T" "" "" "" "EBF3(NM_001005463.2):c.1655G>A (p.(Ter552Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998203" "0" "50" "10" "131636203" "131636203" "subst" "2.43799E-5" "01804" "EBF3_000047" "g.131636203G>A" "" "" "" "EBF3(NM_001005463.2):c.1646C>T (p.(Pro549Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998204" "0" "50" "10" "131639227" "131639227" "subst" "0" "01804" "EBF3_000048" "g.131639227G>C" "" "" "" "EBF3(NM_001005463.2):c.1415C>G (p.(Ser472Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998206" "0" "30" "10" "131666063" "131666063" "subst" "1.21869E-5" "01804" "EBF3_000038" "g.131666063T>A" "" "" "" "EBF3(NM_001005463.2):c.868A>T (p.(Met290Leu)), EBF3(NM_001005463.3):c.868A>T (p.M290L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998207" "0" "50" "10" "131671760" "131671760" "subst" "1.6896E-5" "01804" "EBF3_000049" "g.131671760C>T" "" "" "" "EBF3(NM_001005463.2):c.737G>A (p.(Arg246His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998208" "0" "70" "10" "131671794" "131671794" "subst" "0" "01804" "EBF3_000050" "g.131671794G>A" "" "" "" "EBF3(NM_001005463.2):c.703C>T (p.(His235Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001025730" "0" "50" "10" "131676080" "131676080" "subst" "0" "02327" "EBF3_000043" "g.131676080C>A" "" "" "" "EBF3(NM_001375380.1):c.588G>T (p.(Gln196His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025731" "0" "70" "10" "131761735" "131761735" "subst" "0" "02329" "EBF3_000012" "g.131761735G>A" "" "" "" "EBF3(NM_001375380.1):c.187C>T (p.R63W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001037802" "0" "30" "10" "131639294" "131639294" "subst" "8.95776E-6" "01804" "EBF3_000051" "g.131639294C>A" "" "" "" "EBF3(NM_001375380.1):c.1375G>T (p.(Gly459Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037803" "0" "50" "10" "131640401" "131640401" "subst" "0" "01804" "EBF3_000052" "g.131640401T>C" "" "" "" "EBF3(NM_001375380.1):c.1351A>G (p.(Thr451Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037804" "0" "30" "10" "131640567" "131640567" "subst" "0" "01804" "EBF3_000053" "g.131640567G>A" "" "" "" "EBF3(NM_001375380.1):c.1195-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037805" "0" "30" "10" "131757665" "131757665" "subst" "0" "01804" "EBF3_000054" "g.131757665C>A" "" "" "" "EBF3(NM_001375380.1):c.412-394G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037806" "0" "30" "10" "131760781" "131760781" "subst" "0" "01804" "EBF3_000055" "g.131760781T>G" "" "" "" "EBF3(NM_001375380.1):c.356-291A>C" "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 EBF3 ## Count = 67 "{{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}}" "0000079401" "00006832" "00" "-3618903" "0" "8388607" "0" "c.-3618903_*8485382dup" "" "" "" "0000169028" "00006832" "90" "512" "0" "512" "0" "c.512G>A" "r.(?)" "p.(Gly171Asp)" "6" "0000234498" "00006832" "70" "1183" "0" "1183" "0" "c.1183C>T" "r.(?)" "p.(Arg395*)" "" "0000342583" "00006832" "90" "907" "0" "907" "0" "c.907C>T" "r.(?)" "p.(Arg303Ter)" "" "0000539515" "00006832" "30" "1345" "4" "1345" "4" "c.1345+4T>C" "r.spl?" "p.?" "" "0000539517" "00006832" "50" "1030" "0" "1030" "0" "c.1030A>G" "r.(?)" "p.(Ile344Val)" "" "0000539519" "00006832" "30" "908" "0" "908" "0" "c.908G>A" "r.(?)" "p.(Arg303Gln)" "" "0000539520" "00006832" "70" "692" "0" "694" "0" "c.692_694del" "r.(?)" "p.(Asn231del)" "" "0000539522" "00006832" "50" "553" "0" "553" "0" "c.553A>G" "r.(?)" "p.(Arg185Gly)" "" "0000612366" "00006832" "50" "736" "0" "736" "0" "c.736C>T" "r.(?)" "p.(Arg246Cys)" "" "0000656449" "00006832" "50" "555" "0" "555" "0" "c.555A>T" "r.(?)" "p.(Arg185Ser)" "" "0000690680" "00006832" "70" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Arg63Trp)" "" "0000763839" "00006832" "90" "625" "0" "625" "0" "c.625=/C>T" "r.(?)" "p.(Arg209=/Trp)" "" "0000763840" "00006832" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Trp)" "" "0000763841" "00006832" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Trp)" "" "0000763842" "00006832" "90" "913" "0" "913" "0" "c.913C>T" "r.(?)" "p.(Gln305Ter)" "" "0000763843" "00006832" "90" "196" "0" "196" "0" "c.196A>G" "r.(?)" "p.(Asn66Asp)" "" "0000763844" "00006832" "90" "1101" "1" "1101" "1" "c.1101+1G>T" "r.spl" "p.?" "" "0000763845" "00006832" "90" "530" "0" "530" "0" "c.530C>T" "r.(?)" "p.(Pro177Leu)" "" "0000763846" "00006832" "90" "422" "0" "422" "0" "c.422A>G" "r.(?)" "p.(Tyr141Cys)" "" "0000763847" "00006832" "90" "512" "0" "512" "0" "c.512G>A" "r.(?)" "p.(Gly171Asp)" "" "0000763848" "00006832" "90" "907" "0" "907" "0" "c.907C>T" "r.(?)" "p.(Arg303Ter)" "" "0000763849" "00006832" "90" "469" "0" "477" "0" "c.469_477dup" "r.(?)" "p.(His157_Ile159dup)" "" "0000763850" "00006832" "90" "488" "0" "488" "0" "c.488G>C" "r.(?)" "p.(Arg163Pro)" "" "0000763851" "00006832" "90" "530" "0" "530" "0" "c.530C>T" "r.(?)" "p.(Pro177Leu)" "" "0000763852" "00006832" "90" "355" "1" "355" "1" "c.355+1G>C" "r.spl" "p.?" "" "0000763853" "00006832" "90" "579" "0" "579" "0" "c.579G>T" "r.(?)" "p.(Lys193Asn)" "" "0000763854" "00006832" "90" "280" "0" "283" "0" "c.280_283del" "r.(?)" "p.(Glu94LysfsTer37)" "" "0000763855" "00006832" "90" "554" "1" "554" "1" "c.554+1G>A" "r.spl" "p.?" "" "0000763856" "00006832" "90" "616" "0" "616" "0" "c.616C>T" "r.(?)" "p.(Arg206Ter)" "" "0000763857" "00006832" "90" "616" "0" "616" "0" "c.616C>T" "r.(?)" "p.(Arg206Ter)" "" "0000763858" "00006832" "90" "488" "0" "488" "0" "c.488G>A" "r.(?)" "p.(Arg163Gln)" "" "0000763859" "00006832" "90" "488" "0" "488" "0" "c.488G>A" "r.(?)" "p.(Arg163Gln)" "" "0000763860" "00006832" "90" "488" "0" "488" "0" "c.488G>T" "r.(?)" "p.(Arg163Leu)" "" "0000804344" "00006832" "50" "1443" "0" "1443" "0" "c.1443G>A" "r.(?)" "p.(Met481Ile)" "" "0000852439" "00006832" "50" "1591" "0" "1591" "0" "c.1591T>C" "r.(?)" "p.(Ser531Pro)" "" "0000876940" "00006832" "70" "920" "0" "920" "0" "c.920dup" "r.(?)" "p.(Pro308Alafs*33)" "10" "0000889062" "00006832" "50" "1524" "0" "1533" "0" "c.1524_1533del" "r.(?)" "p.(Pro509*)" "" "0000889063" "00006832" "30" "1346" "-14" "1346" "-11" "c.1346-14_1346-11dup" "r.(=)" "p.(=)" "" "0000889064" "00006832" "30" "1346" "-13" "1346" "-11" "c.1346-13_1346-11dup" "r.(=)" "p.(=)" "" "0000889066" "00006832" "90" "686" "0" "686" "0" "c.686C>G" "r.(?)" "p.(Ser229*)" "" "0000889067" "00006832" "70" "485" "2" "485" "8" "c.485+2_485+8del" "r.spl?" "p.?" "" "0000889068" "00006832" "90" "422" "0" "422" "0" "c.422A>G" "r.(?)" "p.(Tyr141Cys)" "" "0000913246" "00006832" "50" "745" "0" "745" "0" "c.745C>G" "r.(?)" "p.(Pro249Ala)" "" "0000921749" "00006832" "70" "488" "0" "488" "0" "c.488G>C" "r.(?)" "p.(Arg163Pro)" "" "0000949366" "00006832" "50" "868" "0" "868" "0" "c.868A>T" "r.(?)" "p.(Met290Leu)" "" "0000965662" "00006832" "90" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461*)" "" "0000965663" "00006832" "30" "1346" "-12" "1346" "-11" "c.1346-12_1346-11dup" "r.(=)" "p.(=)" "" "0000978959" "00006832" "50" "1624" "0" "1624" "0" "c.1624G>A" "r.(?)" "p.(Ala542Thr)" "" "0000978960" "00006832" "90" "1183" "0" "1183" "0" "c.1183C>T" "r.(?)" "p.(Arg395*)" "" "0000978961" "00006832" "30" "885" "8" "885" "8" "c.885+8C>T" "r.(=)" "p.(=)" "" "0000978962" "00006832" "70" "588" "0" "588" "0" "c.588G>T" "r.(?)" "p.(Gln196His)" "" "0000978963" "00006832" "30" "486" "-5" "486" "-5" "c.486-5C>T" "r.spl?" "p.?" "" "0000978964" "00006832" "30" "356" "-12" "356" "-11" "c.356-12_356-11del" "r.(=)" "p.(=)" "" "0000998202" "00006832" "30" "1655" "0" "1655" "0" "c.1655G>A" "r.(?)" "p.(=)" "" "0000998203" "00006832" "50" "1646" "0" "1646" "0" "c.1646C>T" "r.(?)" "p.(Pro549Leu)" "" "0000998204" "00006832" "50" "1415" "0" "1415" "0" "c.1415C>G" "r.(?)" "p.(Ser472Cys)" "" "0000998206" "00006832" "30" "868" "0" "868" "0" "c.868A>T" "r.(?)" "p.(Met290Leu)" "" "0000998207" "00006832" "50" "737" "0" "737" "0" "c.737G>A" "r.(?)" "p.(Arg246His)" "" "0000998208" "00006832" "70" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(His235Tyr)" "" "0001025730" "00006832" "50" "588" "0" "588" "0" "c.588G>T" "r.(?)" "p.(Gln196His)" "" "0001025731" "00006832" "70" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Arg63Trp)" "" "0001037802" "00006832" "30" "1348" "0" "1348" "0" "c.1348G>T" "r.(?)" "p.(Gly450Cys)" "" "0001037803" "00006832" "50" "1324" "0" "1324" "0" "c.1324A>G" "r.(?)" "p.(Thr442Ala)" "" "0001037804" "00006832" "30" "1168" "-10" "1168" "-10" "c.1168-10C>T" "r.(=)" "p.(=)" "" "0001037805" "00006832" "30" "412" "-394" "412" "-394" "c.412-394G>T" "r.(=)" "p.(=)" "" "0001037806" "00006832" "30" "356" "-291" "356" "-291" "c.356-291A>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 27 "{{screeningid}}" "{{variantid}}" "0000050421" "0000079401" "0000104348" "0000169028" "0000144059" "0000234498" "0000363265" "0000763839" "0000363266" "0000763840" "0000363267" "0000763841" "0000363268" "0000763842" "0000363269" "0000763843" "0000363270" "0000763844" "0000363271" "0000763845" "0000363272" "0000763846" "0000363273" "0000763847" "0000363274" "0000763848" "0000363275" "0000763849" "0000363276" "0000763850" "0000363277" "0000763851" "0000363278" "0000763852" "0000363279" "0000763853" "0000363280" "0000763854" "0000363281" "0000763855" "0000363282" "0000763856" "0000363283" "0000763857" "0000363284" "0000763858" "0000363285" "0000763859" "0000363286" "0000763860" "0000417305" "0000876940" "0000435595" "0000921749"