### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = UBR5) # 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}}" "UBR5" "ubiquitin protein ligase E3 component n-recognin 5" "8" "q22" "unknown" "NC_000008.10" "UD_136021005735" "" "http://www.LOVD.nl/UBR5" "" "1" "16806" "51366" "608413" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-01-05 16:14:48" "00006" "2025-01-06 10:01:53" ## 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}}" "00022295" "UBR5" "ubiquitin protein ligase E3 component n-recognin 5" "001" "NM_015902.5" "" "NP_056986.2" "" "" "" "-455" "10429" "8400" "103424917" "103264501" "" "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}}" "00212" "SCZD" "schizophrenia (SCZD)" "AD" "181500" "" "" "" "00006" "2013-09-24 21:08:12" "00006" "2021-12-10 21:51:32" "00668" "KLEFS" "Kleefstra syndrome (KLEFS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "UBR5" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 32 "{{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}}" "00449876" "" "" "" "1" "" "04653" "" "" "F" "" "" "" "" "" "" "" "" "00453020" "" "" "" "1" "" "00006" "{PMID:Koemans 2017:29069077}, {PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat2:pat3" "00459492" "" "" "" "1" "" "00006" "{PMID:Sabeh 2025:39721588}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat1" "00459493" "" "" "" "1" "" "00006" "{PMID:Sabeh 2025:39721588}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat2" "00459494" "" "" "" "1" "" "00006" "{PMID:Sabeh 2025:39721588}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat3" "00459495" "" "" "" "1" "" "00006" "{PMID:Sabeh 2025:39721588}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat4" "00459496" "" "" "" "1" "" "00006" "{PMID:Sabeh 2025:39721588}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat5" "00459497" "" "" "" "1" "" "00006" "{PMID:Sabeh 2025:39721588}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat6" "00459498" "" "" "" "1" "" "00006" "{PMID:Sabeh 2025:39721588}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat7" "00459499" "" "" "" "1" "" "00006" "{PMID:Sabeh 2025:39721588}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat8" "00459500" "" "" "" "1" "" "00006" "{PMID:Sabeh 2025:39721588}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat9" "00459501" "" "" "" "1" "" "00006" "{PMID:Sabeh 2025:39721588}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat10" "00459502" "" "" "" "2" "" "00006" "{PMID:Sabeh 2025:39721588}" "2-generation family, affected daughter/mother" "M" "" "" "" "0" "" "" "" "Pat11" "00459503" "" "" "00459502" "1" "" "00006" "{PMID:Sabeh 2025:39721588}" "mother" "F" "" "" "" "0" "" "" "" "Pat11mother" "00459504" "" "" "" "1" "" "00006" "{PMID:Sabeh 2025:39721588}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat12" "00459505" "" "" "" "1" "" "00006" "{PMID:Sabeh 2025:39721588}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat13" "00459506" "" "" "" "1" "" "00006" "{PMID:Sabeh 2025:39721588}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat14" "00459507" "" "" "" "1" "" "00006" "{PMID:Sabeh 2025:39721588}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat15" "00459508" "" "" "" "1" "" "00006" "{PMID:Sabeh 2025:39721588}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat16" "00459509" "" "" "" "1" "" "00006" "{PMID:Sabeh 2025:39721588}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat17" "00459510" "" "" "" "1" "" "00006" "{PMID:Sabeh 2025:39721588}" "2-generation family, 1 affected, unaffected carrier parents/2 sibs" "M" "yes" "" "" "0" "" "" "" "Pat18" "00459511" "" "" "" "1" "" "00006" "{PMID:Sabeh 2025:39721588}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat19" "00459512" "" "" "" "1" "" "00006" "{PMID:Sabeh 2025:39721588}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat20" "00459513" "" "" "" "1" "" "00006" "{PMID:Sabeh 2025:39721588}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat21" "00459514" "" "" "" "1" "" "00006" "{PMID:Sabeh 2025:39721588}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat22" "00459515" "" "" "" "1" "" "00006" "{PMID:Sabeh 2025:39721588}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat23" "00459516" "" "" "" "1" "" "00006" "{PMID:Sabeh 2025:39721588}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat24" "00459517" "" "" "" "1" "" "00006" "{PMID:Sabeh 2025:39721588}" "patient" "M" "" "" "" "0" "" "" "" "Pat25" "00459518" "" "" "" "1" "" "00006" "{PMID:Sabeh 2025:39721588}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat26" "00459519" "" "" "" "1" "" "00006" "{PMID:Sabeh 2025:39721588}" "patient" "F" "" "" "" "0" "" "" "" "Pat27" "00459520" "" "" "" "1" "" "00006" "{PMID:Sabeh 2025:39721588}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat28" "00459521" "" "" "" "1" "" "00006" "{PMID:Sabeh 2025:39721588}" "patient" "F" "" "" "" "0" "" "" "" "Pat29" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 32 "{{individualid}}" "{{diseaseid}}" "00449876" "00212" "00453020" "00668" "00459492" "05611" "00459493" "05611" "00459494" "05611" "00459495" "05611" "00459496" "05611" "00459497" "05611" "00459498" "05611" "00459499" "05611" "00459500" "05611" "00459501" "05611" "00459502" "05611" "00459503" "05611" "00459504" "05611" "00459505" "05611" "00459506" "05611" "00459507" "05611" "00459508" "05611" "00459509" "05611" "00459510" "05611" "00459511" "05611" "00459512" "05611" "00459513" "05611" "00459514" "05611" "00459515" "05611" "00459516" "05611" "00459517" "05611" "00459518" "05611" "00459519" "05611" "00459520" "05611" "00459521" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00212, 00668, 05611 ## Count = 32 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000339023" "00212" "00449876" "04653" "Isolated (sporadic)" "" "Schizophrenia, Attention deficit hyperactivity disorder, Scoliosis, Precocious puberty, Macrocephaly" "" "" "" "" "" "" "" "" "" "" "" "0000341664" "00668" "00453020" "00006" "Isolated (sporadic)" "31y" "imild ntellectual disability; language and motor delay; behavior problems, autism; no childhood hypotonia; no epilepsy; scoliosis; strabismus; cryptorchidism; brain MRI normal" "" "" "" "" "" "" "" "" "" "KLEFS2" "Kleefstra syndrome phenotypic spectrum" "0000347570" "05611" "00459492" "00006" "Isolated (sporadic)" "12y" "see paper; ..., no short stature; no intellectual disability; developmental delay, 9m-rolling over; autistic features, sensory issues, behavioral issues; no epilepsy; no movement disorder; no genital anomalies; no cardiac anomalies; no dysmorphisms; learning disability with dyslexia, hypotonia" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000347571" "05611" "00459493" "00006" "Isolated (sporadic)" "" "see paper; ..., no short stature; no intellectual disability; developmental delay; autistic features; no epilepsy; movement disorder; no genital anomalies; no cardiac anomalies; no dysmorphisms; hyperkinetic movement disorder" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000347572" "05611" "00459494" "00006" "Isolated (sporadic)" "2.17y" "see paper; ..., OFC <3rd; short stature; no intellectual disability; developmental delay; no autistic features; no epilepsy; no movement disorder; no genital anomalies; no cardiac anomalies; Pierre Robin sequence, abnormal implantation hair, triangular face, mild hypotelorism, strabism, prnoued nasal bridge, columella moderately protuse, asymmetrical ears, thin lips, left ocular hypotropia, exotropia" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000347573" "05611" "00459495" "00006" "Isolated (sporadic)" "11.42y" "see paper; ..., OFC <3rd; no short stature; no intellectual disability (IQ79); developmental delay, 15m-walk, speech delay, 3y-little speech, 5y-short, not always correct sentences; no autistic features; no epilepsy; no movement disorder; no genital anomalies; no cardiac anomalies; large ears, mildly downslanting palpebral fissures, high nasal root, thin upper lip, prominent incisors, high and narrow palate, long fingers and toes; behavioral issues, ADHD, aggressivity" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000347574" "05611" "00459496" "00006" "Isolated (sporadic)" "10y" "see paper; ..., OFC 88th; no short stature; intellectual disability; global developmental delay, 2y-walk, 10y-no speech; autistic features; no epilepsy; no movement disorder; genital anomalies, micropenis; no cardiac anomalies; upslanting palpebral fissure, high forehead; hypotonia" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000347575" "05611" "00459497" "00006" "Isolated (sporadic)" "16.58y" "see paper; ..., OFC 47th; no short stature; intellectual disability (IQ49); developmental delay, 9-10m-sit, 14m-walk, 3y-first word6y-calculating numbers up to 20, can read simple texts, cannot write, can drive mountain-E-Bike; no autistic features; no epilepsy, febrile seizure; no movement disorder; genital anomalies, partial cryptorchidism, phimosis; no cardiac anomalies; epicanthus, asymmetric, upslanting palpebral fissures, small ears, folded helix, full lower lip, retrognathia, pectus excavatum, broad thumbs, long fingers, pes valgus, 4/5 brachymetatarsalia, 2/3 syndactyly, long toes" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000347576" "05611" "00459498" "00006" "Isolated (sporadic)" "0.63y" "see paper; ..., OFC 95th; no short stature; no intellectual disability; developmental delay, mild delay motor development; no speech delay; no autistic features; no epilepsy; no movement disorder; no genital anomalies; no cardiac anomalies; round face, light hair color, mild hypertelorism, wide nose, anteverted nares, lLong filtrum, small chin; normally placed ears, modulated but rotated backwards,nd have a pointed shape with large; neck ck shows excess s; trunk s rather wid; on shows left postaxial appendage (withoupper limb, bilateral on shows postaxial po lower limblaterally" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000347577" "05611" "00459499" "00006" "Isolated (sporadic)" "7.08y" "see paper; ..., OFC >97th; no short stature; mild intellectual disability; global developmental delay, probably autism spectre disorder; borderline autism spectrum disorder; epilepsy associated with fever or infection; no movement disorder; no genital anomalies; no cardiac anomalies; no dysmorphisms; Café au lait spots" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000347578" "05611" "00459500" "00006" "Isolated (sporadic)" "3y" "see paper; ..., no short stature; no intellectual disability; no developmental delay; no autistic features; no epilepsy; no movement disorder; no genital anomalies; ventricular septal defect; no dysmorphisms" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000347579" "05611" "00459501" "00006" "Isolated (sporadic)" "2.33y" "see paper; ..., OFC 49th; no short stature; intellectual disability; developmental delay, severe speech delay, no/minimal language, 1y2m-walk, 2y4m-climb, 2y4m-run, fine motor skills treated with occupational therapy; autistic features; no epilepsy; no movement disorder; no genital anomalies; no cardiac anomalies; 4 café au lait macules, one irregular in shape, one hypopigmentary macule, skin dicoloration left arm" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000347580" "05611" "00459502" "00006" "Familial, autosomal dominant" "15.42y" "see paper; ..., no short stature; no intellectual disability; no developmental delay; autistic features; epilepsy; movement disorder; no genital anomalies; no cardiac anomalies; no dysmorphisms" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000347581" "05611" "00459503" "00006" "Unknown" "" "see paper; ..., dystonia, chorea, cognitive decline, seizure-like activity, migraines" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000347582" "05611" "00459504" "00006" "Isolated (sporadic)" "2.5y" "see paper; ..., OFC 32nd; no short stature; intellectual disability; developmental delay, very severe deficiency, hypotonia, no walk, no speech, cortical blindness; no autistic features; epilepsy; movement disorder; genital anomalies, micropenis; no cardiac anomalies; mild bitemporal retraction, anteverted lobule of ears, small mouth; dystony" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000347583" "05611" "00459505" "00006" "Isolated (sporadic)" "6y" "see paper; ..., OFC 7th; no short stature; no intellectual disability, learning difficulties; global developmental delay, 2y-episode of regression, 8-9m-sit, 18m-walk, 16m-babbling, 20m-first word; autism spectrum disorder (level 3); no epilepsy; no movement disorder; no genital anomalies; no cardiac anomalies; mild 5th finger clinoactyly" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000347584" "05611" "00459506" "00006" "Isolated (sporadic)" "7.42y" "see paper; ..., OFC 52nd; no short stature; intellectual disability; developmental delay; autistic features; epilepsy; no movement disorder; no genital anomalies; no cardiac anomalies; no dysmorphisms" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000347585" "05611" "00459507" "00006" "Isolated (sporadic)" "3.58y" "see paper; ..., OFC 73rd; no short stature; intellectual disability; mild developmental delay; no autistic features; no epilepsy, febrile seizure; no movement disorder; no genital anomalies; no cardiac anomalies; no dysmorphisms" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000347586" "05611" "00459508" "00006" "Isolated (sporadic)" "13y" "see paper; ..., OFC 81st; no short stature; mild-moderate intellectual disability; global developmental delay, 2y-walk, speech delay, coordination problem, fine motor delay, tremor, agitation, ADHD; autism spectrum disorder, impulsive; no epilepsy; movement disorder; no genital anomalies; no cardiac anomalies; enophthalmia, bulbous nose, anteverted nares, high forehead; significant tremor, ADHD, behavioral issues, anxiety, motor and vocal tics induced by methylphenidate, improvement ADHD without tics under Guanfacine" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000347587" "05611" "00459509" "00006" "Isolated (sporadic)" "4.92y" "see paper; ..., OFC 69th; no short stature; no intellectual disability, learning difficulties; developmental delay, 15m-walking, speech delay; no autistic features; no epilepsy; no movement disorder; no genital anomalies; no cardiac anomalies; upslanting palpebral fissures, thick eyebrows, synophris, fetal pads" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000347588" "05611" "00459510" "00006" "Familial" "6.33y" "see paper; ..., OFC <3rd; no short stature; severe-profound intellectual disability; early infancy developmental delay, minimal developmental progress, non-ambulatory, support to sit, 1y-rolled back but lost the skill, no speech; no autistic features; epilepsy, epileptic encephalopathy, 4m-onset (intractable tonic and complex partial seizures); no movement disorder; no genital anomalies; no cardiac anomalies; brachycephaly, mild synophrys, long palpebral fissures, deep-set eyes, patchy hypopigmentation on abdomen; profound hypotonia; reduced deep tendon reflexes; 4y-several-month episode choreoathetosis in context of illness which subsequently resolved; cortical blindness" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000347589" "05611" "00459511" "00006" "Isolated (sporadic)" "1.33y" "see paper; ..., OFC >99th; no short stature; no intellectual disability; developmental delay, motor delay2m-turn over, 16m-sit, speech delay (16m-ba-ba); no autistic features; epilepsy; no movement disorder; no genital anomalies; no cardiac anomalies; anteverted nares, chubby cheeks, epicanthus;" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000347590" "05611" "00459512" "00006" "Isolated (sporadic)" "7.92y" "see paper; ..., OFC 28th; no short stature; mild-moderate intellectual disability; global developmental delay, 2y-walked, lLanguage delay, coordination problem, fine motor delay, tremor, agitation, ADHD; no autistic features; no epilepsy; no movement disorder; genital anomalies, unilateral cryptorchidism; no cardiac anomalies; thin nose, enophthalmia with under-orbital ring, very fine and woolly hair; agenesis bulb/left olfactory sulcus, small optic chiasm, enlargement of the pericerebral spaces, predominantly frontal" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000347591" "05611" "00459513" "00006" "Isolated (sporadic)" "10y" "see paper; ..., no short stature; intellectual disability; developmental delay; autistic features; no epilepsy; no movement disorder; no genital anomalies; no cardiac anomalies; mild dysmorphisms" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000347592" "05611" "00459514" "00006" "Isolated (sporadic)" "" "see paper; ..., no short stature; no intellectual disability; developmental delay; no autistic features; epilepsy, intractable infantile spasms; no movement disorder; no genital anomalies; no cardiac anomalies; no dysmorphisms" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000347593" "05611" "00459515" "00006" "Isolated (sporadic)" "" "see paper; ..., no short stature; no intellectual disability; developmental delay; autistic features; epilepsy; no movement disorder; no genital anomalies; no cardiac anomalies; no dysmorphisms" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000347594" "05611" "00459516" "00006" "Isolated (sporadic)" "14.5y" "see paper; ..., OFC 98th; no short stature; intellectual disability3(IQ49); developmental delay, language dealy, delayed motor skills; moderate autistic features, significant improvement over time; no epilepsy; no movement disorder; no genital anomalies; no cardiac anomalies; frontal bossings, sinophris, narrow palpebral fissures with long lashes, sunken eyes, short nasal filter, everted lips, triangular chin, prominent chin" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000347595" "05611" "00459517" "00006" "Isolated (sporadic)" "11y" "see paper; ..., OFC <1st (-3.2 SD); short stature; intellectual disability; no developmental delay; autistic features; no epilepsy, febrile seizures; ADHD; pituitary hypoplasia; no movement disorder; no genital anomalies; cardiac anomalies, interatrial communication; hypertelorism, prognathous, /eft hand transverse fold;" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000347596" "05611" "00459518" "00006" "Isolated (sporadic)" "3y" "see paper; ..., OFC 60th; no short stature; no intellectual disability; developmental delay; autistic features; no epilepsy; movement disorder; no genital anomalies; no cardiac anomalies; no dysmorphisms" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000347597" "05611" "00459519" "00006" "Unknown" "6y" "see paper; ..., OFC 99th; no short stature; no intellectual disability; developmental delay, fine motor slightly delayed: First words: 12-14 mo; Combining words: 2y8m (child\'s language is almost unintelligible to strangers). Mimics with good receptive language. Has 30-50 words but strangers would maybe recognize 15 words. Uses some sign language.; autistic features; no epilepsy; no movement disorder; no genital anomalies; cardiac anomalies; no dysmorphisms; paroxysmal dyskinesia, stereotypy or complex tic, tremor" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000347598" "05611" "00459520" "00006" "Isolated (sporadic)" "15y" "see paper; ..., OFC 50th; no short stature; intellectual disability (IQ66); mild global developmental delay; no autistic features; no epilepsy; movement disorder; no genital anomalies; no cardiac anomalies; no dysmorphisms; ADHD, OCD, anxiety, Tourette\'s Syndrome" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000347599" "05611" "00459521" "00006" "Unknown" "5y" "see paper; ..., OFC 69th; no short stature; no intellectual disability; developmental delay, speech delay, 18-24m-1st words, now 100 words, no full sentences, mild motor delays, 9m-sit, 16m- walk, parental concerns with coordination; mild-moderate autism spectrum disorder; no epilepsy; no movement disorder; no genital anomalies; no cardiac anomalies; no dysmorphisms" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" ## Screenings ## Do not remove or alter this header ## ## Count = 32 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000451472" "00449876" "1" "04653" "04653" "2024-05-22 18:14:29" "" "" "SEQ-NG-I" "DNA" "" "WGS" "0000454631" "00453020" "1" "00006" "00006" "2024-08-14 11:08:45" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" "0000461118" "00459492" "1" "00006" "00006" "2025-01-06 10:01:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000461119" "00459493" "1" "00006" "00006" "2025-01-06 10:01:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000461120" "00459494" "1" "00006" "00006" "2025-01-06 10:01:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000461121" "00459495" "1" "00006" "00006" "2025-01-06 10:01:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000461122" "00459496" "1" "00006" "00006" "2025-01-06 10:01:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS trio" "0000461123" "00459497" "1" "00006" "00006" "2025-01-06 10:01:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000461124" "00459498" "1" "00006" "00006" "2025-01-06 10:01:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000461125" "00459499" "1" "00006" "00006" "2025-01-06 10:01:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000461126" "00459500" "1" "00006" "00006" "2025-01-06 10:01:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000461127" "00459501" "1" "00006" "00006" "2025-01-06 10:01:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000461128" "00459502" "1" "00006" "00006" "2025-01-06 10:01:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000461129" "00459503" "1" "00006" "00006" "2025-01-06 10:01:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000461130" "00459504" "1" "00006" "00006" "2025-01-06 10:01:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000461131" "00459505" "1" "00006" "00006" "2025-01-06 10:01:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000461132" "00459506" "1" "00006" "00006" "2025-01-06 10:01:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000461133" "00459507" "1" "00006" "00006" "2025-01-06 10:01:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000461134" "00459508" "1" "00006" "00006" "2025-01-06 10:01:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000461135" "00459509" "1" "00006" "00006" "2025-01-06 10:01:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000461136" "00459510" "1" "00006" "00006" "2025-01-06 10:01:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000461137" "00459511" "1" "00006" "00006" "2025-01-06 10:01:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS trio" "0000461138" "00459512" "1" "00006" "00006" "2025-01-06 10:01:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS trio" "0000461139" "00459513" "1" "00006" "00006" "2025-01-06 10:01:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000461140" "00459514" "1" "00006" "00006" "2025-01-06 10:01:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000461141" "00459515" "1" "00006" "00006" "2025-01-06 10:01:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000461142" "00459516" "1" "00006" "00006" "2025-01-06 10:01:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000461143" "00459517" "1" "00006" "00006" "2025-01-06 10:01:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000461144" "00459518" "1" "00006" "00006" "2025-01-06 10:01:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000461145" "00459519" "1" "00006" "00006" "2025-01-06 10:01:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES duo" "0000461146" "00459520" "1" "00006" "00006" "2025-01-06 10:01:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000461147" "00459521" "1" "00006" "00006" "2025-01-06 10:01:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES duo" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 43 "{{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}}" "0000307380" "0" "50" "8" "103250997" "103250997" "subst" "4.12705E-6" "01943" "RRM2B_000009" "g.103250997G>A" "" "" "" "RRM2B(NM_001172477.1):c.54C>T (p.C18=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102238769G>A" "" "VUS" "" "0000533346" "0" "30" "8" "103250790" "103250790" "subst" "0.00140474" "02326" "RRM2B_000013" "g.103250790G>C" "" "" "" "RRM2B(NM_001172477.1):c.261C>G (p.A87=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102238562G>C" "" "likely benign" "" "0000533348" "0" "10" "8" "103250840" "103250840" "dup" "0" "02325" "RRM2B_000014" "g.103250840dup" "" "" "" "RRM2B(NM_001172477.1):c.211dupC (p.R71Pfs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102238612dup" "" "benign" "" "0000533350" "0" "30" "8" "103251007" "103251007" "subst" "0.00114068" "01943" "RRM2B_000016" "g.103251007G>A" "" "" "" "RRM2B(NM_001172477.1):c.44C>T (p.P15L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102238779G>A" "" "likely benign" "" "0000533351" "0" "50" "8" "103291274" "103291274" "subst" "0" "01804" "UBR5_000002" "g.103291274T>C" "" "" "" "UBR5(NM_015902.5):c.6164A>G (p.(His2055Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102279046T>C" "" "VUS" "" "0000721743" "0" "50" "8" "103251007" "103251007" "subst" "0" "01943" "RRM2B_000021" "g.103251007G>C" "" "" "" "RRM2B(NM_001172477.1):c.44C>G (p.P15R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803367" "0" "30" "8" "103306329" "103306329" "subst" "8.77732E-6" "01943" "UBR5_000003" "g.103306329T>C" "" "" "" "UBR5(NM_015902.5):c.4203A>G (p.L1401=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851755" "0" "50" "8" "103250875" "103250875" "subst" "0.000263816" "01943" "RRM2B_000024" "g.103250875C>T" "" "" "" "RRM2B(NM_001172477.1):c.176G>A (p.R59Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861001" "0" "30" "8" "103250790" "103250790" "subst" "0.00140474" "01943" "RRM2B_000013" "g.103250790G>C" "" "" "" "RRM2B(NM_001172477.1):c.261C>G (p.A87=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964757" "0" "10" "8" "103287863" "103287863" "dup" "0" "02329" "UBR5_000004" "g.103287863dup" "" "" "" "UBR5(NM_015902.6):c.6631-4dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977966" "0" "50" "8" "103297514" "103297514" "subst" "0" "01804" "UBR5_000005" "g.103297514A>G" "" "" "" "UBR5(NM_015902.6):c.5537T>C (p.(Met1846Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985376" "0" "70" "8" "103358614" "103358614" "subst" "0" "04653" "UBR5_000006" "g.103358614C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "g.102346386C>T" "" "likely pathogenic (dominant)" "ACMG" "0000989522" "0" "50" "8" "103293724" "103293724" "subst" "7.32207E-5" "00006" "UBR5_000007" "g.103293724C>T" "" "{PMID:Koemans 2017:29069077}" "" "" "" "De novo" "" "" "0" "" "" "g.102281496C>T" "" "VUS" "" "0001020226" "0" "90" "8" "103359252" "103359252" "subst" "0" "00006" "UBR5_000032" "g.103359252C>G" "" "{PMID:Sabeh 2025:39721588}" "" "" "ACMG PS3_str, PM2_mod, PP2_sup, PS2_str" "De novo" "" "" "0" "" "" "g.102347024C>G" "" "pathogenic (dominant)" "ACMG" "0001020227" "0" "90" "8" "103288005" "103288010" "del" "0" "00006" "UBR5_000014" "g.103288005_103288010del" "" "{PMID:Sabeh 2025:39721588}" "" "" "ACMG PS3_str, PM2_mod, PM4_mod, PP2_sup, PS2_str" "De novo" "" "" "0" "" "" "g.102275777_102275782del" "" "pathogenic (dominant)" "ACMG" "0001020228" "0" "70" "8" "103299699" "103299699" "subst" "0" "00006" "UBR5_000018" "g.103299699C>G" "" "{PMID:Sabeh 2025:39721588}" "" "" "ACMG PM2_mod, PP2_sup, PS2_str" "De novo" "" "" "0" "" "" "g.102287471C>G" "" "likely pathogenic (dominant)" "ACMG" "0001020229" "0" "90" "8" "103309168" "103309170" "del" "0" "00006" "UBR5_000025" "g.103309168_103309170del" "" "{PMID:Sabeh 2025:39721588}" "" "" "ACMG PS3_str, PM2_mod, PM4_mod, PS2_str" "De novo" "" "" "0" "" "" "g.102296940_102296942del" "" "pathogenic (dominant)" "ACMG" "0001020230" "0" "70" "8" "103424400" "103424400" "subst" "0" "00006" "UBR5_000034" "g.103424400C>T" "" "{PMID:Sabeh 2025:39721588}" "" "" "ACMG PM2_mod, PVS1_mod, PS2_str" "De novo" "" "" "0" "" "" "g.102412172C>T" "" "likely pathogenic (dominant)" "ACMG" "0001020231" "0" "70" "8" "103299660" "103299660" "subst" "0" "00006" "UBR5_000017" "g.103299660C>T" "" "{PMID:Sabeh 2025:39721588}" "" "" "ACMG PM2_mod, PVS1_mod, PS2_str" "De novo" "" "" "0" "" "" "g.102287432C>T" "" "likely pathogenic (dominant)" "ACMG" "0001020232" "0" "70" "8" "103372840" "103372840" "dup" "0" "00006" "UBR5_000033" "g.103372840dup" "" "{PMID:Sabeh 2025:39721588}" "" "" "ACMG PM2_mod, PVS1_mod, PS2_str" "De novo" "" "" "0" "" "" "g.102360612dup" "" "likely pathogenic (dominant)" "ACMG" "0001020233" "0" "90" "8" "103307994" "103307994" "subst" "0" "00006" "UBR5_000024" "g.103307994G>A" "" "{PMID:Sabeh 2025:39721588}" "" "" "ACMG PS3_str, PM2_mod, PP2_sup, PS2_str" "De novo" "" "" "0" "" "" "g.102295766G>A" "" "pathogenic (dominant)" "ACMG" "0001020234" "0" "90" "8" "103340004" "103340004" "subst" "0" "00006" "UBR5_000030" "g.103340004T>C" "" "{PMID:Sabeh 2025:39721588}" "" "" "ACMG PS3_str, PM2_mod, PP2_sup, PS2_str" "De novo" "" "" "0" "" "" "g.102327776T>C" "" "pathogenic (dominant)" "ACMG" "0001020235" "0" "90" "8" "103326142" "103326142" "subst" "0" "00006" "UBR5_000027" "g.103326142G>A" "" "{PMID:Sabeh 2025:39721588}" "" "" "ACMG PS3_str, PM2_mod, PVS1_mod, PS2_str" "De novo" "" "" "0" "" "" "g.102313914G>A" "" "pathogenic (dominant)" "ACMG" "0001020236" "21" "50" "8" "103293695" "103293695" "subst" "0" "00006" "UBR5_000015" "g.103293695A>G" "" "{PMID:Sabeh 2025:39721588}" "" "" "ACMG PP1_sup, PM2_mod, PP2_sup" "Germline" "" "" "0" "" "" "g.102281467A>G" "" "VUS" "ACMG" "0001020237" "0" "50" "8" "103293695" "103293695" "subst" "0" "00006" "UBR5_000015" "g.103293695A>G" "" "{PMID:Sabeh 2025:39721588}" "" "" "ACMG PP1_sup, PM2_mod, PP2_sup" "Germline/De novo (untested)" "" "" "0" "" "" "g.102281467A>G" "" "VUS" "ACMG" "0001020238" "0" "70" "8" "103298729" "103298729" "subst" "0" "00006" "UBR5_000016" "g.103298729C>T" "" "{PMID:Sabeh 2025:39721588}" "" "" "ACMG BS3_str, PM2_mod, PP2_sup, PS2_str" "De novo" "" "" "0" "" "" "g.102286501C>T" "" "likely pathogenic (dominant)" "ACMG" "0001020239" "0" "90" "8" "103326142" "103326142" "subst" "0" "00006" "UBR5_000027" "g.103326142G>A" "" "{PMID:Sabeh 2025:39721588}" "" "" "ACMG PS3_str, PM2_mod, PVS1_mod, PS2_str" "De novo" "" "" "0" "" "" "g.102313914G>A" "" "pathogenic (dominant)" "ACMG" "0001020240" "0" "70" "8" "103307257" "103307262" "dup" "0" "00006" "UBR5_000022" "g.103307257_103307262dup" "" "{PMID:Sabeh 2025:39721588}" "" "" "ACMG PM2_mod, PM4_mod, PS2_str" "De novo" "" "" "0" "" "" "g.102295029_102295034dup" "" "likely pathogenic (dominant)" "ACMG" "0001020241" "0" "70" "8" "103324667" "103324667" "subst" "4.06379E-6" "00006" "UBR5_000026" "g.103324667G>A" "" "{PMID:Sabeh 2025:39721588}" "" "" "ACMG PM2_mod, PP2_sup, PS2_str" "De novo" "" "" "0" "" "" "g.102312439G>A" "" "likely pathogenic (dominant)" "ACMG" "0001020242" "0" "90" "8" "103266627" "103266627" "subst" "0" "00006" "UBR5_000009" "g.103266627C>T" "" "{PMID:Sabeh 2025:39721588}" "" "" "ACMG PP3_str, PM2_mod, PP2_sup, PS2_str" "De novo" "" "" "0" "" "" "g.102254399C>T" "" "pathogenic (dominant)" "ACMG" "0001020243" "0" "70" "8" "103276700" "103276703" "del" "0" "00006" "UBR5_000012" "g.103276700_103276703del" "" "{PMID:Sabeh 2025:39721588}" "" "" "ACMG PM2_mod, PP3_sup, PS2_str" "De novo" "" "" "0" "" "" "g.102264472_102264475del" "" "likely pathogenic (dominant)" "ACMG" "0001020244" "3" "50" "8" "103277485" "103277485" "subst" "9.35207E-5" "00006" "UBR5_000013" "g.103277485C>T" "" "{PMID:Sabeh 2025:39721588}" "" "" "ACMG BS3_str, PM2_mod, PP2_sup" "Germline" "" "" "0" "" "" "g.102265257C>T" "" "VUS" "ACMG" "0001020245" "0" "50" "8" "103273406" "103273406" "subst" "0" "00006" "UBR5_000010" "g.103273406T>A" "" "{PMID:Sabeh 2025:39721588}" "" "" "ACMG PM2_mod, PVS1_mod" "De novo" "" "" "0" "" "" "g.102261178T>A" "" "VUS" "ACMG" "0001020246" "0" "70" "8" "103266626" "103266626" "subst" "0" "00006" "UBR5_000008" "g.103266626G>C" "" "{PMID:Sabeh 2025:39721588}" "" "" "ACMG PM2_mod, PP3_mod, PP2_sup" "De novo" "" "" "0" "" "" "g.102254398G>C" "" "likely pathogenic (dominant)" "ACMG" "0001020247" "0" "70" "8" "103301796" "103301796" "subst" "0" "00006" "UBR5_000020" "g.103301796T>C" "" "{PMID:Sabeh 2025:39721588}" "" "" "ACMG PM2_mod, PP2_sup, PS2_str" "De novo" "" "" "0" "" "" "g.102289568T>C" "" "likely pathogenic (dominant)" "ACMG" "0001020248" "0" "70" "8" "103299699" "103299699" "subst" "0" "00006" "UBR5_000018" "g.103299699C>G" "" "{PMID:Sabeh 2025:39721588}" "" "" "ACMG PM2_mod, PP2_sup, PS2_str" "De novo" "" "" "0" "" "" "g.102287471C>G" "" "likely pathogenic (dominant)" "ACMG" "0001020249" "0" "90" "8" "103358466" "103358466" "subst" "0" "00006" "UBR5_000031" "g.103358466C>G" "" "{PMID:Sabeh 2025:39721588}" "" "" "ACMG PS3_str, PM2_mod, PP3_sup, PS2_str" "De novo" "" "" "0" "" "" "g.102346238C>G" "" "pathogenic (dominant)" "ACMG" "0001020250" "0" "70" "8" "103300433" "103300434" "del" "0" "00006" "UBR5_000019" "g.103300433_103300434del" "" "{PMID:Sabeh 2025:39721588}" "" "" "ACMG PM2_mod, PVS1_mod, PS2_str" "De novo" "" "" "0" "" "" "g.102288205_102288206del" "" "likely pathogenic (dominant)" "ACMG" "0001020251" "21" "50" "8" "103335701" "103335701" "del" "0" "00006" "UBR5_000028" "g.103335701del" "" "{PMID:Sabeh 2025:39721588}" "" "" "ACMG PM2_mod, PVS1_mod; maternal mosaicism" "Germline" "" "" "0" "" "" "g.102323473del" "" "VUS" "ACMG" "0001020252" "0" "70" "8" "103307258" "103307258" "del" "0" "00006" "UBR5_000023" "g.103307258del" "" "{PMID:Sabeh 2025:39721588}" "" "" "ACMG PM2_mod, PVS1_mod, PS2_str" "De novo" "" "" "0" "" "" "g.102295030del" "" "likely pathogenic (dominant)" "ACMG" "0001020253" "0" "70" "8" "103338889" "103338889" "subst" "0" "00006" "UBR5_000029" "g.103338889C>T" "" "{PMID:Sabeh 2025:39721588}" "" "" "ACMG PP3_str, PM2_mod, PP2_sup" "Germline/De novo (untested)" "" "" "0" "" "" "g.102326661C>T" "" "likely pathogenic (dominant)" "ACMG" "0001020254" "0" "70" "8" "103273498" "103273498" "subst" "0" "00006" "UBR5_000011" "g.103273498T>C" "" "{PMID:Sabeh 2025:39721588}" "" "" "ACMG PM2_mod, PS2_str" "De novo" "" "" "0" "" "" "g.102261270T>C" "" "likely pathogenic (dominant)" "ACMG" "0001020255" "0" "50" "8" "103307250" "103307250" "subst" "0" "00006" "UBR5_000021" "g.103307250A>G" "" "{PMID:Sabeh 2025:39721588}" "" "" "ACMG PM2_mod, PP3_mod, PP2_sup" "Germline/De novo (untested)" "" "" "0" "" "" "g.102295022A>G" "" "VUS" "ACMG" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes UBR5 ## Count = 43 "{{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}}" "0000307380" "00022295" "50" "23933" "0" "23933" "0" "c.*15533C>T" "r.(=)" "p.(=)" "" "0000533346" "00022295" "30" "24140" "0" "24140" "0" "c.*15740C>G" "r.(=)" "p.(=)" "" "0000533348" "00022295" "10" "24090" "0" "24090" "0" "c.*15690dup" "r.(?)" "p.(=)" "" "0000533350" "00022295" "30" "23923" "0" "23923" "0" "c.*15523C>T" "r.(=)" "p.(=)" "" "0000533351" "00022295" "50" "6164" "0" "6164" "0" "c.6164A>G" "r.(?)" "p.(His2055Arg)" "" "0000721743" "00022295" "50" "23923" "0" "23923" "0" "c.*15523C>G" "r.(=)" "p.(=)" "" "0000803367" "00022295" "30" "4203" "0" "4203" "0" "c.4203A>G" "r.(?)" "p.(Leu1401=)" "" "0000851755" "00022295" "50" "24055" "0" "24055" "0" "c.*15655G>A" "r.(=)" "p.(=)" "" "0000861001" "00022295" "30" "24140" "0" "24140" "0" "c.*15740C>G" "r.(=)" "p.(=)" "" "0000964757" "00022295" "10" "6631" "-4" "6631" "-4" "c.6631-4dup" "r.spl?" "p.?" "" "0000977966" "00022295" "50" "5537" "0" "5537" "0" "c.5537T>C" "r.(?)" "p.(Met1846Thr)" "" "0000985376" "00022295" "70" "586" "0" "586" "0" "c.586G>A" "r.(?)" "p.(Val196Ile)" "7" "0000989522" "00022295" "50" "5720" "0" "5720" "0" "c.5720G>A" "r.(?)" "p.(Arg1907His)" "" "0001020226" "00022295" "90" "455" "0" "455" "0" "c.455G>C" "r.(?)" "p.(Arg152Pro)" "" "0001020227" "00022295" "90" "6557" "0" "6562" "0" "c.6557_6562del" "r.(?)" "p.(Leu2186_Gly2187del)" "" "0001020228" "00022295" "70" "4919" "0" "4919" "0" "c.4919G>C" "r.(?)" "p.(Arg1640Thr)" "" "0001020229" "00022295" "90" "3622" "0" "3624" "0" "c.3622_3624del" "r.(?)" "p.(Cys1208del)" "" "0001020230" "00022295" "70" "62" "1" "62" "1" "c.62+1G>A" "r.spl" "p.?" "" "0001020231" "00022295" "70" "4957" "1" "4957" "1" "c.4957+1G>A" "r.spl" "p.?" "" "0001020232" "00022295" "70" "245" "0" "245" "0" "c.245dup" "r.(?)" "p.(Lys83Ter)" "" "0001020233" "00022295" "90" "3682" "0" "3682" "0" "c.3682C>T" "r.(?)" "p.(Pro1228Ser)" "" "0001020234" "00022295" "90" "1447" "0" "1447" "0" "c.1447A>G" "r.(?)" "p.(Thr483Ala)" "" "0001020235" "00022295" "90" "1897" "0" "1897" "0" "c.1897C>T" "r.(?)" "p.(Arg633Ter)" "" "0001020236" "00022295" "50" "5749" "0" "5749" "0" "c.5749T>C" "r.(?)" "p.(Phe1917Leu)" "" "0001020237" "00022295" "50" "5749" "0" "5749" "0" "c.5749T>C" "r.(?)" "p.(Phe1917Leu)" "" "0001020238" "00022295" "70" "5074" "0" "5074" "0" "c.5074G>A" "r.(?)" "p.(Asp1692Asn)" "" "0001020239" "00022295" "90" "1897" "0" "1897" "0" "c.1897C>T" "r.(?)" "p.(Arg633Ter)" "" "0001020240" "00022295" "50" "4136" "0" "4141" "0" "c.4136_4141dup" "r.(?)" "p.(Leu1380_Asp1381insGlyLeu)" "" "0001020241" "00022295" "70" "2054" "0" "2054" "0" "c.2054C>T" "r.(?)" "p.(Thr685Ile)" "" "0001020242" "00022295" "90" "8303" "0" "8303" "0" "c.8303G>A" "r.(?)" "p.(Cys2768Tyr)" "" "0001020243" "00022295" "70" "7686" "3" "7686" "6" "c.7686+3_7686+6del" "r.spl" "p.?" "" "0001020244" "00022295" "50" "7444" "0" "7444" "0" "c.7444G>A" "r.(?)" "p.(Gly2482Ser)" "" "0001020245" "00022295" "50" "7924" "0" "7924" "0" "c.7924A>T" "r.(?)" "p.(Arg2642Ter)" "" "0001020246" "00022295" "70" "8304" "0" "8304" "0" "c.8304C>G" "r.(?)" "p.(Cys2768Trp)" "" "0001020247" "00022295" "70" "4598" "0" "4598" "0" "c.4598A>G" "r.(?)" "p.(Gln1533Arg)" "" "0001020248" "00022295" "70" "4919" "0" "4919" "0" "c.4919G>C" "r.(?)" "p.(Arg1640Thr)" "" "0001020249" "00022295" "90" "734" "0" "734" "0" "c.734G>C" "r.(?)" "p.(Gly245Ala)" "" "0001020250" "00022295" "70" "4776" "0" "4777" "0" "c.4776_4777del" "r.(?)" "p.(Glu1593ArgfsTer4)" "" "0001020251" "00022295" "50" "1624" "0" "1624" "0" "c.1624del" "r.(?)" "p.(Tyr542IlefsTer20)" "" "0001020252" "00022295" "70" "4141" "0" "4141" "0" "c.4141del" "r.(?)" "p.(Asp1381ThrfsTer8)" "" "0001020253" "00022295" "70" "1484" "0" "1484" "0" "c.1484G>A" "r.(?)" "p.(Gly495Asp)" "" "0001020254" "00022295" "70" "7843" "-11" "7843" "-11" "c.7843-11A>G" "r.spl" "p.?" "" "0001020255" "00022295" "50" "4148" "0" "4148" "0" "c.4148T>C" "r.(?)" "p.(Phe1383Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{variantid}}" "0000451472" "0000985376" "0000454631" "0000989522" "0000461118" "0001020226" "0000461119" "0001020227" "0000461120" "0001020228" "0000461121" "0001020229" "0000461122" "0001020230" "0000461123" "0001020231" "0000461124" "0001020232" "0000461125" "0001020233" "0000461126" "0001020234" "0000461127" "0001020235" "0000461128" "0001020236" "0000461129" "0001020237" "0000461130" "0001020238" "0000461131" "0001020239" "0000461132" "0001020240" "0000461133" "0001020241" "0000461134" "0001020242" "0000461135" "0001020243" "0000461136" "0001020244" "0000461137" "0001020245" "0000461138" "0001020246" "0000461139" "0001020247" "0000461140" "0001020248" "0000461141" "0001020249" "0000461142" "0001020250" "0000461143" "0001020251" "0000461144" "0001020252" "0000461145" "0001020253" "0000461146" "0001020254" "0000461147" "0001020255"