### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HNRNPU) # 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}}" "HNRNPU" "heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)" "1" "q44" "unknown" "NC_000001.10" "UD_136087573201" "" "https://www.LOVD.nl/HNRNPU" "" "1" "5048" "3192" "602869" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/HNRNPU_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-08-04 19:23:10" "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}}" "00009522" "HNRNPU" "transcript variant 1" "002" "NM_031844.2" "" "NP_114032.2" "" "" "" "-218" "6628" "2478" "245027827" "245013602" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "00841" "EIEE" "encephalopathy, epileptic, early infantile (EIEE)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-02-20 16:58:56" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05761" "DEE54" "encephalopathy, developmental and epileptic, type 54" "AD" "617391" "" "" "" "00006" "2020-06-06 18:54:51" "00006" "2023-08-03 15:29:29" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "HNRNPU" "00841" "HNRNPU" "05761" ## Individuals ## Do not remove or alter this header ## ## Count = 23 "{{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}}" "00116985" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_500:0/1:CONTROL" "00144450" "" "" "" "1" "" "01807" "" "" "?" "" "(Germany)" "" "0" "" "" "" "" "00235343" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00289796" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00302768" "" "" "" "1" "" "00006" "{PMID:Hamdan 2015:25356899}, {PMID:Bramswig 2017:28393272}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Canada" "" "0" "" "" "" "1464.524;Pat3" "00303109" "" "" "" "1" "" "00006" "{PMID:Carvill 2013:23708187}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "T162" "00305979" "" "" "" "1" "" "00006" "{PMID:Johannesen 2020:32427350}" "2-generation family, 1 affected, unaffected parents" "M" "" "Denmark" "" "0" "" "" "" "Pat10" "00309544" "" "" "" "1" "" "00006" "{PMID:Sanchis-Juan 2018:30526634}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat2" "00314912" "" "" "" "1" "" "00006" "{PMID:Zhu 2015:25590979}" "" "M" "" "United States" "" "0" "" "" "" "TrioN6" "00332514" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "175443" "00374754" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5913" "00416256" "" "" "" "1" "" "00006" "{PMID:Monroe 2016:26845106}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat15" "00435499" "" "" "" "1" "" "00006" "{PMID:Bramswig 2017:28393272}, {PMID:Rots 2023:37196654}" "2-generation family, unaffected non-carrier parents, no affected relatives" "M" "" "Germany" "" "0" "" "" "" "Pat1;Pat17" "00435576" "" "" "" "1" "" "00006" "{PMID:Bramswig 2017:28393272}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "Netherlands" "" "0" "" "" "" "Pat2" "00435577" "" "" "" "1" "" "00006" "{PMID:Epi4K Consortium. 2013:23934111}, {DOI:Epi4K Consortium. 2013:10.1038/nature12439}, {PMID:Bramswig 2017:28393272}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "hc;Pat4" "00435578" "" "" "" "1" "" "00006" "{PMID:Bramswig 2017:28393272}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Germany" "" "0" "" "" "" "Pat5" "00435579" "" "" "" "1" "" "00006" "{PMID:Bramswig 2017:28393272}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Netherlands" "" "0" "" "" "" "Pat6" "00435580" "" "" "" "1" "" "00006" "{PMID:Bramswig 2017:28393272}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Netherlands" "" "0" "" "" "" "Pat7" "00438380" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat99" "00438382" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat101" "00449798" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00455826" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "M" "" "" "" "0" "" "" "" "Pat66" "00462182" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 23 "{{individualid}}" "{{diseaseid}}" "00116985" "00000" "00144450" "00198" "00235343" "00198" "00289796" "00198" "00302768" "00139" "00303109" "00344" "00305979" "04270" "00309544" "00198" "00314912" "00198" "00332514" "05761" "00374754" "00198" "00416256" "00198" "00435499" "05611" "00435576" "05611" "00435577" "05611" "00435578" "05611" "00435579" "05611" "00435580" "05611" "00438380" "04270" "00438382" "04270" "00449798" "00139" "00455826" "00198" "00462182" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00344, 00841, 04270, 05611, 05761 ## Count = 21 "{{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/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000117217" "00198" "00144450" "01807" "Unknown" "" "Seizures (HP:0001250); Global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "" "0000175605" "00198" "00235343" "01807" "Unknown" "" "Intellectual disability (HP:0001249); Autistic behavior (HP:0000729); Absence seizure (HP:0002121); Global developmental delay (HP:0001263); Delayed speech and language development (HP:0000750); Muscular hypotonia (HP:0001252)" "" "" "" "" "" "" "" "" "" "" "" "" "0000229850" "00139" "00302768" "00006" "Isolated (sporadic)" "04y" "birth 41w, weight 3310g (-0.95); weight 17.7kg (+0.62), height 96cm (-1.75), OFC 48.6cm (-1.65); severe intellectual disability; no microcephaly; no short stature; hypotonia; no speech; generalized tonic-clonic seizures, onset 12m; no prominent metopic ridge; deep set eyes; no hypertelorism; no depressed nasal bridge; no short nose; anteverted nares; no bulbous nasal tip; no long philtrum; no thin upper vermillion; eversion of upper lip; no micro/retrognathia; teeth abnormalities; no short neck; low set ears; normal corpus callosum, Broad Sylvian fissures, enlarged sub-arachnoid spaces, discrete non-specific signal anomalies in the white matter in the periventricular region and the right frontal sub-cortical region; feeding difficulties; no hearing deficit; aortic dilatation; unilateral multicystic kidney; bilateral single palmar creases" "" "" "" "" "" "" "" "" "" "DEE54" "intellectual disability" "" "0000230193" "00344" "00303109" "00006" "Isolated (sporadic)" "33y" "seizures atonic (2y), atypical absence, myoclonic jerks, non-convulsive status epilepticus, tonic, tonic-clonic; EEG generalised spike wave, generalised polyspike wave, diffuse slowing, single spike wave, generalised paroxysmal fast activity; development prior to seizures delayed; Severe intellectual disability, regression" "" "" "" "" "" "" "" "" "" "EIEE54" "Lennox Gastaut syndrome" "" "0000231825" "04270" "00305979" "00006" "Unknown" "43y" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000234863" "00198" "00309544" "00006" "Familial, autosomal recessive" "22y" "see paper; ..., tonic-clonic seizures; intellectual disability; learning difficulties" "" "" "" "" "" "" "" "" "" "" "hypotonia" "" "0000238670" "00198" "00314912" "00006" "Unknown" "22y" "Intellectual disability, epilepsy, panhypopituitarism, hypertension, bifid great toe, vertebral segmentation anomalies and sagittal cleft of the vertebra, hypoplastic 13th rib, and delayed bone age." "1d" "" "" "" "" "" "" "" "" "" "" "" "0000250698" "05761" "00332514" "01164" "Unknown" "01y" "(+) Seizure,(+) Global developmental delay,(+) Focal motor seizure,(+) Neonatal seizure" "" "" "" "" "" "" "" "" "" "" "" "" "0000269964" "00198" "00374754" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000308023" "00198" "00416256" "00006" "Unknown" "11y06m" "intellectual deficit, short stature, macrocephaly, feeding problems,\r\ndisturbed sleeping pattern, mobility problems requiring wheelchair use" "" "" "" "" "" "" "" "" "" "" "" "" "0000325686" "05611" "00435499" "00006" "Isolated (sporadic)" "14y" "see both papers; ..., birth 33w; language/speech delay, no speech; motor delay; severe intellectual disability (contributed by Pathogenic HNRNPU variant); no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; seizures/epilepsy; hypotonia; no dystonia; no spasticity; MRI brain cerebral atrophy, multiple lesions including glial lesions, atrophy of the cerebellar vermis, corpus callosum agenesis; no joint hypermobility; no syndactyly; scoliosis; no pectus excavatum; coarse face, deep set elanguage/speech delay, hypertelorism, depressed nasal bridge, short nose, anteverted nares, low set ears, thin upper and everted lower lip vermelion, teeth abnormalities; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; congenital heart disease (ASD II); neonatal feeding difficulties; agenesis right kidney" "" "" "" "" "" "" "" "" "" "NEDCFSA" "neurodevelopmental delay" "" "0000325761" "05611" "00435576" "00006" "Isolated (sporadic)" "32y" "see paper; ..., birth 40w, weight 2780g (-1.64), length 48cm (-1.68); weight 64.7kg (+0.57), height 151cm (-2.13), OFC 52cm (-1.8); severe intellectual disability; microcephaly; short stature; hypotonia; speech impairment, few words; no seizures, fever-related seizures with normal EEG at younger age; prominent metopic ridge; deep set eyes; hypertelorism; depressed nasal bridge; short nose; anteverted nares; bulbous nasal tip; long philtrum; no thin upper vermillion; eversion of upper lip; no micro/retrognathia, prominent jaw; teeth abnormalities, irregular, small palate; short neck, webbing; no ear abnormalities; feeding difficulties; no hearing deficit; pentalogy of Fallot; no renal abnormalities; short hands and feet, broad thumbs" "" "" "" "" "" "" "" "" "" "DEE54" "epilepsy, intellectual disability" "" "0000325762" "05611" "00435577" "00006" "Isolated (sporadic)" "17y" "see paper; ..., birth 40w, weight 2640g (-1.97), length 47cm (-2.13); weight 63.6kg (+0.84), height 146.5cm (-2.44), OFC 54.2cm (-0.19); severe intellectual disability; no microcephaly; short stature; hypotonia; speech impairment, 1-2 word utterances; generalized tonic-clonic seizures, atonic insults, absences, Lennox-Gastaut-like epilepsy, onset 62m; no prominent metopic ridge; deep set eyes; hypertelorism; no depressed nasal bridge; no short nose; no anteverted nares; bulbous nasal tip; no long philtrum; no thin upper vermillion; no eversion of upper lip; no micro/retrognathia; teeth abnormalities; short neck; low set ears; normal corpus callosum, subependymal gray matter heterotopia, Chiari I malformation; no feeding difficulties; no hearing deficit; autism, aggressive behavior, odontogenic keratocyst" "" "" "" "" "" "" "" "" "" "DEE54" "epilepsy, intellectual disability" "" "0000325763" "05611" "00435578" "00006" "Isolated (sporadic)" "25d" "see paper; ..., birth 34w, weight 1815g (-1.24); weight 1.89kg (-2.73), height 42cm (-3.42), OFC 27cm (-4.93); microcephaly; short stature; hypotonia; onset neonatal, focal myoclonic seizures; no prominent metopic ridge; no deep set eyes; hypertelorism; no depressed nasal bridge; short nose; no anteverted nares; bulbous nasal tip; long philtrum; thin upper vermillion; micro/retrognathia; short neck; low set ears, big ears; normal corpus callosum, cystic lesion between posterior fossa and 4th ventricle, Dandy Walker malformation; feeding difficulties; patent ductus arteriosus; renal pelvic ectasia; joint contractures, clonus on extremities, hypospadia, scrotal raffe, 10 ribs" "" "" "" "" "" "" "" "" "" "DEE54" "epilepsy, intellectual disability" "" "0000325764" "05611" "00435579" "00006" "Isolated (sporadic)" "23y" "see paper; ..., birth 38w, weight 3400g (+0.3), length 50cm (+0.13), OFC normal; weight 69kg (-0.55), height 175cm (-1.24), OFC 61cm (+1.81); severe intellectual disability; no microcephaly; no short stature; hypotonia; no speech; onset 10m, seizures, temporal epilepsy evolving into West syndrome, then into severe therapy resistant Lennox-Gastaut-like epilepsy with multiple daily absences, temporal tonic and infrequent atonic seizures sometimes fever-related.; no prominent metopic ridge; deep set eyes; hypertelorism; depressed nasal bridge; short nose; anteverted nares; bulbous nasal tip; no long philtrum; no thin upper vermillion; eversion of upper lip; no micro/retrognathia; teeth abnormalities, thick incisors, accessory incisor in palatum composed of several elements, diastemas between teeth; no short neck; low set ears, slightly overfolded helices; normal corpus callosum, wide ventricles, retarded frontal myelinisation, glandula pinealis cyst; no feeding difficulties; no hearing deficit; no cardiac abnormalities; regression in motor and speech development after onset of epilepsy, secondary osteoporosis, obstipation, rotatory nystagmus, cortical visual impairment" "" "" "" "" "" "" "" "" "" "DEE54" "epilepsy, intellectual disability" "" "0000325765" "05611" "00435580" "00006" "Isolated (sporadic)" "3y6m" "see paper; ..., birth 38w, weight 2835g (-1.08), length 48cm (-1.34), OFC 32.5cm (-1.71) ; weight 18kg (+1.6), height 96cm (-1), OFC 51cm (+1.02); severe intellectual disability; no microcephaly; no short stature; no hypotonia; speech impairment, words, short sentences; onset 11m, febrile tonic-clonic seizures and absences, later occurring without fever; no prominent metopic ridge; no deep set eyes; no hypertelorism; no depressed nasal bridge; no short nose; no anteverted nares; bulbous nasal tip; no long philtrum; thin upper vermillion; no eversion of upper lip; no micro/retrognathia; no teeth abnormalities, thick gums; no short neck; no ear abnormalities; normal corpus callosum; no feeding difficulties; no hearing deficit; no cardiac abnormalities; short and broad thumbs, columella thick, fleshy alae nasi" "" "" "" "" "" "" "" "" "" "DEE54" "epilepsy, intellectual disability" "" "0000328284" "04270" "00438380" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0002373 febrile seizures; HP:0011947 respiratory tract infection" "7y" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328286" "04270" "00438382" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0002353 eeg abnormality; HP:0010845 eeg with generalized slow activity; HP:0001873 thrombocytopenia; HP:0001945 fever; HP:0002181 cerebral edema; HP:0012387 bronchitis; HP:0100806 sepsis" "1y" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000338943" "00139" "00449798" "03544" "Isolated (sporadic)" "" "HP:0001250, HP:0001263, HP:0001256, HP:0000729, HP:0001252, HP:0000540, HP:0001382" "" "" "" "" "" "" "" "" "" "DEE54" "intellectual disability" "" "0000344359" "00198" "00455826" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "DEE54" "neurogenetic diseases" "" "0000349682" "00198" "00462182" "03544" "Isolated (sporadic)" "" "HP:0000252, HP:0001249, HP:0001256, HP:0002389, HP:0004322" "" "" "" "" "" "" "" "" "" "DEE54" "multiple congenital abnormalities" "" ## Screenings ## Do not remove or alter this header ## ## Count = 23 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000117453" "00116985" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000145308" "00144450" "0" "01807" "01807" "2017-12-14 17:18:52" "" "" "SEQ" "DNA" "" "" "0000236448" "00235343" "1" "01807" "01807" "2019-05-22 21:18:09" "" "" "SEQ" "DNA" "" "" "0000290964" "00289796" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000303894" "00302768" "1" "00006" "00006" "2020-06-01 10:33:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000304233" "00303109" "1" "00006" "00006" "2020-06-06 19:15:13" "" "" "SEQ;SEQ-NG" "DNA" "" "65-gene panel" "0000307109" "00305979" "1" "00006" "00006" "2020-07-06 16:08:38" "" "" "SEQ;SEQ-NG" "DNA" "" "candidate gene panel" "0000310688" "00309544" "1" "00006" "00006" "2020-08-28 19:40:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000316086" "00314912" "1" "00006" "00006" "2020-10-20 15:09:17" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000333738" "00332514" "1" "01164" "01164" "2021-02-19 16:35:07" "" "" "SEQ-NG-I" "DNA" "" "" "0000375948" "00374754" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000417536" "00416256" "1" "00006" "00006" "2022-08-25 22:19:14" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000436978" "00435499" "1" "00006" "00006" "2023-08-03 13:47:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000437055" "00435576" "1" "00006" "00006" "2023-08-04 19:02:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437056" "00435577" "1" "00006" "00006" "2023-08-04 19:02:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "trio WES" "0000437057" "00435578" "1" "00006" "00006" "2023-08-04 19:02:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437058" "00435579" "1" "00006" "00006" "2023-08-04 19:02:00" "00006" "2023-08-04 19:07:00" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "WES" "0000437059" "00435580" "1" "00006" "00006" "2023-08-04 19:02:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000439862" "00438380" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000439864" "00438382" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000451393" "00449798" "1" "03544" "03544" "2024-05-15 10:39:48" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000457442" "00455826" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000463814" "00462182" "1" "03544" "03544" "2025-02-01 09:15:31" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000303894" "HNRNPU" "0000304233" "HNRNPU" "0000307109" "HNRNPU" "0000310688" "HNRNPU" "0000316086" "HNRNPU" "0000333738" "HNRNPU" "0000375948" "HNRNPU" ## 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 = 77 "{{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}}" "0000188298" "0" "50" "1" "245021486" "245021486" "subst" "8.12229E-6" "02192" "HNRNPU_000001" "g.245021486C>T" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs377613329" "0" "" "" "g.244858184C>T" "" "VUS" "" "0000236410" "0" "90" "1" "245023680" "245023680" "del" "0" "01807" "HNRNPU_000002" "g.245023680del" "" "" "" "974delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.244860378del" "" "pathogenic" "" "0000252019" "0" "30" "1" "245019741" "245019741" "subst" "1.68852E-5" "02326" "HNRNPU_000003" "g.245019741A>G" "" "" "" "HNRNPU(NM_031844.3):c.1912+18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.244856439A>G" "" "likely benign" "" "0000283424" "0" "90" "1" "245027099" "245027099" "subst" "0" "02329" "HNRNPU_000004" "g.245027099G>A" "" "" "" "HNRNPU(NM_031844.3):c.511C>T (p.Q171*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.244863797G>A" "" "pathogenic" "" "0000343339" "0" "50" "1" "245018815" "245018815" "subst" "0" "02327" "HNRNPU_000006" "g.245018815G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.244855513G>A" "" "VUS" "" "0000344605" "0" "90" "1" "245027087" "245027087" "subst" "0" "02327" "HNRNPU_000008" "g.245027087G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.244863785G>A" "" "pathogenic" "" "0000348967" "0" "70" "1" "245022129" "245022129" "subst" "0" "02327" "HNRNPU_000007" "g.245022129A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.244858827A>G" "" "likely pathogenic" "" "0000480158" "0" "90" "1" "245019461" "245019461" "subst" "0" "01807" "HNRNPU_000009" "g.245019461C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.244856159C>T" "" "pathogenic" "" "0000506724" "0" "90" "1" "245018334" "245018334" "subst" "0" "01943" "HNRNPU_000010" "g.245018334G>A" "" "" "" "HNRNPU(NM_031844.2):c.2365C>T (p.R789*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244855032G>A" "" "pathogenic" "" "0000506725" "0" "50" "1" "245018872" "245018872" "subst" "0" "02327" "HNRNPU_000011" "g.245018872T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244855570T>G" "" "VUS" "" "0000506726" "0" "30" "1" "245018874" "245018874" "subst" "4.06458E-6" "02327" "HNRNPU_000012" "g.245018874T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244855572T>C" "" "likely benign" "" "0000506727" "0" "30" "1" "245020022" "245020022" "subst" "0.00063387" "02326" "HNRNPU_000013" "g.245020022C>A" "" "" "" "HNRNPU(NM_031844.3):c.1743+8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244856720C>A" "" "likely benign" "" "0000506728" "0" "30" "1" "245021539" "245021539" "subst" "0.000190923" "01804" "HNRNPU_000014" "g.245021539T>C" "" "" "" "HNRNPU(NM_004501.3):c.1211A>G (p.(Lys404Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244858237T>C" "" "likely benign" "" "0000506729" "0" "30" "1" "245021573" "245021573" "subst" "4.09108E-6" "02327" "HNRNPU_000015" "g.245021573A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244858271A>C" "" "likely benign" "" "0000506730" "0" "30" "1" "245022046" "245022046" "subst" "0.00203353" "02326" "HNRNPU_000016" "g.245022046C>T" "" "" "" "HNRNPU(NM_031844.3):c.1215G>A (p.(Val405=), p.V405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244858744C>T" "" "likely benign" "" "0000506731" "0" "30" "1" "245022613" "245022613" "subst" "5.69365E-5" "02326" "HNRNPU_000017" "g.245022613T>C" "" "" "" "HNRNPU(NM_031844.3):c.1081A>G (p.I361V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244859311T>C" "" "likely benign" "" "0000506732" "0" "70" "1" "245025823" "245025823" "subst" "4.06114E-6" "02327" "HNRNPU_000018" "g.245025823G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244862521G>A" "" "likely pathogenic" "" "0000506733" "0" "30" "1" "245026009" "245026009" "subst" "4.06091E-6" "01804" "HNRNPU_000019" "g.245026009C>T" "" "" "" "HNRNPU(NM_004501.3):c.658G>A (p.(Gly220Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244862707C>T" "" "likely benign" "" "0000506734" "0" "90" "1" "245026956" "245026965" "dup" "0" "01943" "HNRNPU_000020" "g.245026956_245026965dup" "" "" "" "HNRNPU(NM_031844.2):c.651_660dupAGGCGGCGGA (p.G221Rfs*25), HNRNPU(NM_031844.3):c.651_660dupAGGCGGCGGA (p.G221Rfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244863654_244863663dup" "" "pathogenic" "" "0000506735" "0" "90" "1" "245026956" "245026965" "dup" "0" "02325" "HNRNPU_000020" "g.245026956_245026965dup" "" "" "" "HNRNPU(NM_031844.2):c.651_660dupAGGCGGCGGA (p.G221Rfs*25), HNRNPU(NM_031844.3):c.651_660dupAGGCGGCGGA (p.G221Rfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244863654_244863663dup" "" "pathogenic" "" "0000506736" "0" "30" "1" "245026966" "245026966" "subst" "0" "01804" "HNRNPU_000021" "g.245026966T>G" "" "" "" "HNRNPU(NM_031844.2):c.644A>C (p.(Lys215Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244863664T>G" "" "likely benign" "" "0000506737" "0" "30" "1" "245026967" "245026967" "subst" "0" "01804" "HNRNPU_000022" "g.245026967T>C" "" "" "" "HNRNPU(NM_031844.2):c.643A>G (p.(Lys215Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244863665T>C" "" "likely benign" "" "0000506738" "0" "50" "1" "245027182" "245027182" "subst" "0" "01804" "HNRNPU_000023" "g.245027182T>C" "" "" "" "HNRNPU(NM_031844.3):c.428A>G (p.(Asp143Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244863880T>C" "" "VUS" "" "0000506739" "0" "30" "1" "245027342" "245027342" "subst" "0" "01804" "HNRNPU_000024" "g.245027342C>T" "" "" "" "HNRNPU(NM_004501.3):c.268G>A (p.(Glu90Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244864040C>T" "" "likely benign" "" "0000506740" "0" "90" "1" "245027413" "245027413" "del" "0" "02327" "HNRNPU_000025" "g.245027413del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244864111del" "" "pathogenic" "" "0000506741" "0" "10" "1" "245027469" "245027469" "subst" "0.000972135" "02326" "HNRNPU_000026" "g.245027469G>A" "" "" "" "HNRNPU(NM_031844.3):c.141C>T (p.A47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244864167G>A" "" "benign" "" "0000605597" "0" "70" "1" "245027126" "245027126" "subst" "0" "02325" "HNRNPU_000028" "g.245027126G>A" "" "" "" "HNRNPU(NM_031844.3):c.484C>T (p.Q162*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244863824G>A" "" "likely pathogenic" "" "0000647653" "1" "30" "1" "245018909" "245018909" "subst" "0.0058132" "03575" "HNRNPU_000027" "g.245018909G>A" "5/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs11537737}" "Germline" "" "rs11537737" "0" "" "" "g.244855607G>A" "" "likely benign" "" "0000653983" "0" "30" "1" "245018769" "245018769" "subst" "0" "02327" "HNRNPU_000029" "g.245018769T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244855467T>C" "" "likely benign" "" "0000653984" "0" "10" "1" "245018909" "245018909" "subst" "0.0058132" "02327" "HNRNPU_000027" "g.245018909G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244855607G>A" "" "benign" "" "0000653985" "0" "30" "1" "245019207" "245019207" "subst" "0.000162832" "02326" "HNRNPU_000030" "g.245019207T>G" "" "" "" "HNRNPU(NM_031844.3):c.2166A>C (p.G722=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244855905T>G" "" "likely benign" "" "0000653986" "0" "30" "1" "245019212" "245019214" "del" "0" "02326" "HNRNPU_000031" "g.245019212_245019214del" "" "" "" "HNRNPU(NM_031844.2):c.2166_2167+1delAGG, HNRNPU(NM_031844.3):c.2166_2167+1delAGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244855910_244855912del" "" "likely benign" "" "0000653987" "0" "50" "1" "245019454" "245019455" "del" "0" "01943" "HNRNPU_000032" "g.245019454_245019455del" "" "" "" "HNRNPU(NM_031844.2):c.1919_1920delTT (p.F640Yfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.244856152_244856153del" "" "VUS" "" "0000667296" "0" "70" "1" "245027099" "245027099" "subst" "0" "00006" "HNRNPU_000004" "g.245027099G>A" "" "{PMID:Hamdan 2015:25356899}, {PMID:Bramswig 2017:28393272}" "" "" "" "De novo" "" "" "0" "" "" "g.244863797G>A" "" "pathogenic (dominant)" "" "0000667661" "0" "70" "1" "245027138" "245027139" "delins" "0" "00006" "HNRNPU_000033" "g.245027138_245027139delinsAG" "" "{PMID:Carvill 2013:23708187}" "" "Tyr805*" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000673674" "0" "50" "1" "245023681" "245023683" "del" "0" "00006" "HNRNPU_000034" "g.245023681_245023683del" "" "{PMID:Johannesen 2020:32427350}" "" "971_973delGAG" "ACMG PM2, PM4; mother not available" "Germline/De novo (untested)" "" "" "0" "" "" "g.244860379_244860381del" "" "VUS" "ACMG" "0000675785" "0" "50" "1" "245021372" "245021372" "subst" "0" "02325" "HNRNPU_000035" "g.245021372C>T" "" "" "" "HNRNPU(NM_031844.3):c.1435G>A (p.V479I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000685629" "1" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Sanchis-Juan 2018:30526634}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000698212" "0" "70" "1" "245020159" "245020159" "subst" "0" "00006" "HNRNPU_000036" "g.245020159C>T" "" "{PMID:Zhu 2015:25590979}" "" "" "" "De novo" "" "" "0" "" "" "g.244856857C>T" "" "VUS" "" "0000717374" "0" "30" "1" "245018885" "245018885" "subst" "9.75864E-5" "02326" "HNRNPU_000037" "g.245018885A>G" "" "" "" "HNRNPU(NM_031844.2):c.2193T>C (p.N731=), HNRNPU(NM_031844.3):c.2193T>C (p.N731=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717375" "0" "50" "1" "245019212" "245019214" "del" "0" "01943" "HNRNPU_000031" "g.245019212_245019214del" "" "" "" "HNRNPU(NM_031844.2):c.2166_2167+1delAGG, HNRNPU(NM_031844.3):c.2166_2167+1delAGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717376" "0" "70" "1" "245019302" "245019302" "del" "0" "02329" "HNRNPU_000038" "g.245019302del" "" "" "" "HNRNPU(NM_031844.3):c.2072delA (p.N691Ifs*143)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000717377" "0" "50" "1" "245022081" "245022081" "subst" "4.08467E-6" "02325" "HNRNPU_000039" "g.245022081C>G" "" "" "" "HNRNPU(NM_031844.3):c.1180G>C (p.E394Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717378" "0" "50" "1" "245022092" "245022092" "subst" "8.18565E-6" "02325" "HNRNPU_000040" "g.245022092T>C" "" "" "" "HNRNPU(NM_031844.3):c.1169A>G (p.(Asn390Ser), p.N390S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717379" "0" "70" "1" "245027000" "245027003" "delins" "0" "02327" "HNRNPU_000041" "g.245027000_245027003delinsGTCTT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000731521" "0" "90" "1" "245018334" "245018334" "subst" "0" "01164" "HNRNPU_000010" "g.245018334G>A" "" "PMID: 28815871; PMID: 33004838" "" "" "ACMG: PVS1, PS2_SUP, PM2_sup: class 5" "Germline/De novo (untested)" "?" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000787299" "0" "50" "1" "245022089" "245022089" "subst" "0" "00006" "HNRNPU_000042" "g.245022089C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.244858787C>T" "" "VUS" "" "0000799260" "0" "30" "1" "245027235" "245027235" "subst" "8.61397E-5" "01943" "HNRNPU_000043" "g.245027235C>G" "" "" "" "HNRNPU(NM_031844.2):c.375G>C (p.E125D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799261" "0" "30" "1" "245027236" "245027236" "subst" "9.02697E-5" "01943" "HNRNPU_000044" "g.245027236T>G" "" "" "" "HNRNPU(NM_031844.2):c.374A>C (p.E125A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000839928" "0" "70" "1" "245027059" "245027059" "del" "0" "03779" "HNRNPU_000045" "g.245027059del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000848675" "0" "70" "1" "245027537" "245027537" "subst" "0" "02325" "HNRNPU_000047" "g.245027537G>A" "" "" "" "HNRNPU(NM_031844.3):c.73C>T (p.L25F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000857406" "0" "50" "1" "245018794" "245018794" "subst" "2.03061E-5" "02325" "HNRNPU_000046" "g.245018794G>A" "" "" "" "HNRNPU(NM_031844.3):c.2284C>T (p.R762C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857407" "0" "30" "1" "245018885" "245018885" "subst" "9.75864E-5" "01943" "HNRNPU_000037" "g.245018885A>G" "" "" "" "HNRNPU(NM_031844.2):c.2193T>C (p.N731=), HNRNPU(NM_031844.3):c.2193T>C (p.N731=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000877246" "0" "90" "1" "245018778" "245018781" "del" "0" "00006" "HNRNPU_000048" "g.245018778_245018781del" "" "{PMID:Monroe 2016:26845106}" "" "2299_2302delAACA" "" "De novo" "" "" "0" "" "" ".244855476_244855479del" "" "VUS" "" "0000883342" "0" "50" "1" "245021486" "245021486" "subst" "8.12229E-6" "02325" "HNRNPU_000001" "g.245021486C>T" "" "" "" "HNRNPU(NM_031844.3):c.1321G>A (p.G441R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883343" "0" "90" "1" "245023700" "245023704" "del" "0" "02329" "HNRNPU_000049" "g.245023700_245023704del" "" "" "" "HNRNPU(NM_031844.3):c.954_958delTCTTT (p.F318Lfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883344" "0" "50" "1" "245027329" "245027329" "subst" "0" "02325" "HNRNPU_000050" "g.245027329T>A" "" "" "" "HNRNPU(NM_031844.3):c.281A>T (p.E94V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931800" "0" "90" "1" "245023684" "245023684" "subst" "0" "00006" "HNRNPU_000051" "g.245023684T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.244860382T>C" "" "pathogenic (dominant)" "" "0000931809" "0" "90" "1" "245025823" "245025823" "subst" "4.06114E-6" "00006" "HNRNPU_000018" "g.245025823G>A" "" "{PMID:Bramswig 2017:28393272}" "" "" "" "De novo" "" "" "0" "" "" "g.244862521G>A" "" "pathogenic (dominant)" "" "0000931810" "0" "90" "1" "245019923" "245019932" "del" "0" "00006" "HNRNPU_000053" "g.245019923_245019932del" "" "{PMID:Epi4K Consortium. 2013:23934111}, {DOI:Epi4K Consortium. 2013:10.1038/nature12439}, {PMID:Bramswig 2017:28393272}" "" "1744_1767del, chr1:245019922_245019931delATTTGTcttt" "" "De novo" "" "" "0" "" "" "g.244856621_244856630del" "" "pathogenic (dominant)" "" "0000931811" "0" "90" "1" "245025709" "245133797" "dup" "0" "00006" "HNRNPU_000052" "g.(?_245025709)_(245133797_?)dup" "" "{PMID:Bramswig 2017:28393272}" "" "" ">108 kb duplication covering HNRNPU (ex1-3) and EFCAB2 (ex1)" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000931812" "0" "70" "1" "245022129" "245022129" "subst" "0" "00006" "HNRNPU_000007" "g.245022129A>G" "" "{PMID:Bramswig 2017:28393272}" "" "" "" "De novo" "" "" "0" "" "" "g.244858827A>G" "" "likely pathogenic (dominant)" "" "0000931813" "0" "90" "1" "245027087" "245027087" "subst" "0" "00006" "HNRNPU_000008" "g.245027087G>A" "" "{PMID:Bramswig 2017:28393272}" "" "" "" "De novo" "" "" "0" "" "" "g.244863785G>A" "" "pathogenic (dominant)" "" "0000935991" "0" "70" "1" "245018859" "245018859" "subst" "0" "00006" "HNRNPU_000054" "g.245018859C>G" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PM1,PM2,PP3,PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.244855557C>G" "" "likely pathogenic (dominant)" "ACMG" "0000935993" "0" "90" "1" "245022092" "245022092" "subst" "0" "00006" "HNRNPU_000055" "g.245022092T>G" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.244858790T>G" "" "pathogenic (dominant)" "" "0000973843" "0" "30" "1" "245022046" "245022046" "subst" "0.00203353" "01804" "HNRNPU_000016" "g.245022046C>T" "" "" "" "HNRNPU(NM_031844.3):c.1215G>A (p.(Val405=), p.V405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973844" "0" "30" "1" "245022878" "245022878" "subst" "0" "01804" "HNRNPU_000057" "g.245022878G>A" "" "" "" "HNRNPU(NM_031844.3):c.1018-202C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973845" "0" "30" "1" "245027417" "245027417" "subst" "0" "01804" "HNRNPU_000058" "g.245027417C>T" "" "" "" "HNRNPU(NM_031844.3):c.193G>A (p.(Asp65Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000985263" "0" "70" "1" "245026980" "245026980" "dup" "0" "03544" "HNRNPU_000059" "g.245026980dup" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.244863678dup" "{CV:3367162}" "likely pathogenic" "ACMG" "0000991059" "0" "50" "1" "245027184" "245027186" "del" "0" "01804" "HNRNPU_000060" "g.245027184_245027186del" "" "" "" "HNRNPU(NM_031844.2):c.426_428delAGA (p.(Glu142del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001011945" "0" "90" "1" "245026988" "245026988" "subst" "0" "00006" "HNRNPU_000061" "g.245026988G>A" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Unknown" "" "" "0" "" "" "g.244863686G>A" "SUB7802717" "pathogenic" "" "0001022590" "0" "30" "1" "245027358" "245027358" "subst" "0" "03779" "HNRNPU_000063" "g.245027358T>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0001023857" "0" "70" "1" "245026956" "245026965" "del" "0" "03544" "HNRNPU_000062" "g.245026956_245026965del" "" "" "" "" "" "Germline" "?" "rs779453109" "0" "" "" "g.244863654_244863663del" "{CV:267738}" "pathogenic" "ACMG" "0001031909" "0" "50" "1" "245022092" "245022092" "subst" "8.18565E-6" "01804" "HNRNPU_000040" "g.245022092T>C" "" "" "" "HNRNPU(NM_031844.3):c.1169A>G (p.(Asn390Ser), p.N390S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031910" "0" "30" "1" "245025460" "245025460" "subst" "0" "01804" "HNRNPU_000064" "g.245025460A>G" "" "" "" "HNRNPU(NM_031844.3):c.877+303T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031911" "0" "50" "1" "245026971" "245026973" "del" "0" "01804" "HNRNPU_000065" "g.245026971_245026973del" "" "" "" "HNRNPU(NM_031844.3):c.643_645del (p.(Lys215del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031912" "0" "50" "1" "245027322" "245027322" "subst" "0" "01804" "HNRNPU_000066" "g.245027322G>C" "" "" "" "HNRNPU(NM_031844.3):c.288C>G (p.(Ile96Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes HNRNPU ## Count = 77 "{{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}}" "0000188298" "00009522" "00" "1321" "0" "1321" "0" "c.1321G>A" "r.(?)" "p.(Gly441Arg)" "" "0000236410" "00009522" "90" "974" "0" "974" "0" "c.974del" "r.(?)" "p.(Ala325Aspfs*14)" "" "0000252019" "00009522" "30" "1912" "18" "1912" "18" "c.1912+18T>C" "r.(=)" "p.(=)" "" "0000283424" "00009522" "90" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Gln171Ter)" "" "0000343339" "00009522" "50" "2263" "0" "2263" "0" "c.2263C>T" "r.(?)" "p.(Arg755Cys)" "" "0000344605" "00009522" "90" "523" "0" "523" "0" "c.523C>T" "r.(?)" "p.(Gln175Ter)" "" "0000348967" "00009522" "70" "1132" "0" "1132" "0" "c.1132T>C" "r.(?)" "p.(Ser378Pro)" "" "0000480158" "00009522" "90" "1913" "-1" "1913" "-1" "c.1913-1G>A" "r.spl" "p.?" "" "0000506724" "00009522" "90" "2365" "0" "2365" "0" "c.2365C>T" "r.(?)" "p.(Arg789Ter)" "" "0000506725" "00009522" "50" "2206" "0" "2206" "0" "c.2206A>C" "r.(?)" "p.(Met736Leu)" "" "0000506726" "00009522" "30" "2204" "0" "2204" "0" "c.2204A>G" "r.(?)" "p.(Asn735Ser)" "" "0000506727" "00009522" "30" "1743" "8" "1743" "8" "c.1743+8G>T" "r.(=)" "p.(=)" "" "0000506728" "00009522" "30" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(Lys423Arg)" "" "0000506729" "00009522" "30" "1234" "0" "1234" "0" "c.1234T>G" "r.(?)" "p.(Phe412Val)" "" "0000506730" "00009522" "30" "1215" "0" "1215" "0" "c.1215G>A" "r.(?)" "p.(Val405=)" "" "0000506731" "00009522" "30" "1081" "0" "1081" "0" "c.1081A>G" "r.(?)" "p.(Ile361Val)" "" "0000506732" "00009522" "70" "817" "0" "817" "0" "c.817C>T" "r.(?)" "p.(Gln273Ter)" "" "0000506733" "00009522" "30" "715" "0" "715" "0" "c.715G>A" "r.(?)" "p.(Gly239Ser)" "" "0000506734" "00009522" "90" "651" "0" "660" "0" "c.651_660dup" "r.(?)" "p.(Gly221ArgfsTer25)" "" "0000506735" "00009522" "90" "651" "0" "660" "0" "c.651_660dup" "r.(?)" "p.(Gly221ArgfsTer25)" "" "0000506736" "00009522" "30" "644" "0" "644" "0" "c.644A>C" "r.(?)" "p.(Lys215Thr)" "" "0000506737" "00009522" "30" "643" "0" "643" "0" "c.643A>G" "r.(?)" "p.(Lys215Glu)" "" "0000506738" "00009522" "50" "428" "0" "428" "0" "c.428A>G" "r.(?)" "p.(Asp143Gly)" "" "0000506739" "00009522" "30" "268" "0" "268" "0" "c.268G>A" "r.(?)" "p.(Glu90Lys)" "" "0000506740" "00009522" "90" "198" "0" "198" "0" "c.198del" "r.(?)" "p.(Ala67LeufsTer40)" "" "0000506741" "00009522" "10" "141" "0" "141" "0" "c.141C>T" "r.(?)" "p.(Ala47=)" "" "0000605597" "00009522" "70" "484" "0" "484" "0" "c.484C>T" "r.(?)" "p.(Gln162Ter)" "" "0000647653" "00009522" "30" "2169" "0" "2169" "0" "c.2169C>T" "r.(=)" "p.(=)" "" "0000653983" "00009522" "30" "2309" "0" "2309" "0" "c.2309A>G" "r.(?)" "p.(Asn770Ser)" "" "0000653984" "00009522" "10" "2169" "0" "2169" "0" "c.2169C>T" "r.(?)" "p.(Ala723=)" "" "0000653985" "00009522" "30" "2166" "0" "2166" "0" "c.2166A>C" "r.(?)" "p.(Gly722=)" "" "0000653986" "00009522" "30" "2166" "0" "2167" "1" "c.2166_2167+1del" "r.spl?" "p.?" "" "0000653987" "00009522" "50" "1919" "0" "1920" "0" "c.1919_1920del" "r.(?)" "p.(Phe640TyrfsTer7)" "" "0000667296" "00009522" "70" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Gln171*)" "" "0000667661" "00009522" "70" "471" "0" "472" "0" "c.471_472delinsCT" "r.(?)" "p.(His158Tyr)" "" "0000673674" "00009522" "50" "971" "0" "973" "0" "c.971_973del" "r.(?)" "p.(Arg324_Ala325delinsThr)" "" "0000675785" "00009522" "50" "1435" "0" "1435" "0" "c.1435G>A" "r.(?)" "p.(Val479Ile)" "" "0000685629" "00009522" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000698212" "00009522" "70" "1615" "-1" "1615" "-1" "c.1615-1G>A" "r.spl" "p.?" "" "0000717374" "00009522" "30" "2193" "0" "2193" "0" "c.2193T>C" "r.(?)" "p.(Asn731=)" "" "0000717375" "00009522" "50" "2166" "0" "2167" "1" "c.2166_2167+1del" "r.spl?" "p.?" "" "0000717376" "00009522" "70" "2072" "0" "2072" "0" "c.2072del" "r.(?)" "p.(Asn691Ilefs*143)" "" "0000717377" "00009522" "50" "1180" "0" "1180" "0" "c.1180G>C" "r.(?)" "p.(Glu394Gln)" "" "0000717378" "00009522" "50" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Asn390Ser)" "" "0000717379" "00009522" "70" "607" "0" "610" "0" "c.607_610delinsAAGAC" "r.(?)" "p.(Ala203Lysfs*11)" "" "0000731521" "00009522" "90" "2365" "0" "2365" "0" "c.2365C>T" "r.(?)" "p.(Arg789*)" "" "0000787299" "00009522" "50" "1172" "0" "1172" "0" "c.1172G>A" "r.(?)" "p.(Cys391Tyr)" "6" "0000799260" "00009522" "30" "375" "0" "375" "0" "c.375G>C" "r.(?)" "p.(Glu125Asp)" "" "0000799261" "00009522" "30" "374" "0" "374" "0" "c.374A>C" "r.(?)" "p.(Glu125Ala)" "" "0000839928" "00009522" "70" "551" "0" "551" "0" "c.551del" "r.(?)" "p.(Ala184GlyfsTer13)" "" "0000848675" "00009522" "70" "73" "0" "73" "0" "c.73C>T" "r.(?)" "p.(Leu25Phe)" "" "0000857406" "00009522" "50" "2284" "0" "2284" "0" "c.2284C>T" "r.(?)" "p.(Arg762Cys)" "" "0000857407" "00009522" "30" "2193" "0" "2193" "0" "c.2193T>C" "r.(?)" "p.(Asn731=)" "" "0000877246" "00009522" "90" "2299" "0" "2302" "0" "c.2299_2302delAACA" "r.(?)" "p.(Asn767Glufs*66)" "" "0000883342" "00009522" "50" "1321" "0" "1321" "0" "c.1321G>A" "r.(?)" "p.(Gly441Arg)" "" "0000883343" "00009522" "90" "954" "0" "958" "0" "c.954_958del" "r.(?)" "p.(Phe318Leufs*18)" "" "0000883344" "00009522" "50" "281" "0" "281" "0" "c.281A>T" "r.(?)" "p.(Glu94Val)" "" "0000931800" "00009522" "90" "970" "0" "970" "0" "c.970A>G" "r.(?)" "p.(Arg324Gly)" "" "0000931809" "00009522" "90" "817" "0" "817" "0" "c.817C>T" "r.(?)" "p.(Gln273Ter)" "" "0000931810" "00009522" "90" "1744" "-4" "1749" "0" "c.1744-4_1749del" "r.1744_1767del" "p.Thr582_Gln589del" "9i_10" "0000931811" "00009522" "90" "0" "0" "0" "0" "c.-218_(877+54_878-1){2}" "r.?" "p.?" "_1_3i" "0000931812" "00009522" "70" "1132" "0" "1132" "0" "c.1132T>C" "r.(?)" "p.(Ser378Pro)" "" "0000931813" "00009522" "90" "523" "0" "523" "0" "c.523C>T" "r.(?)" "p.(Gln175Ter)" "" "0000935991" "00009522" "70" "2219" "0" "2219" "0" "c.2219G>C" "r.(?)" "p.(Gly740Ala)" "" "0000935993" "00009522" "90" "1169" "0" "1169" "0" "c.1169A>C" "r.(?)" "p.(Asn390Thr)" "" "0000973843" "00009522" "30" "1215" "0" "1215" "0" "c.1215G>A" "r.(?)" "p.(Val405=)" "" "0000973844" "00009522" "30" "1018" "-202" "1018" "-202" "c.1018-202C>T" "r.(=)" "p.(=)" "" "0000973845" "00009522" "30" "193" "0" "193" "0" "c.193G>A" "r.(?)" "p.(Asp65Asn)" "" "0000985263" "00009522" "70" "632" "0" "632" "0" "c.632dup" "r.(?)" "p.(Gly212Argfs*2)" "1" "0000991059" "00009522" "50" "426" "0" "428" "0" "c.426_428del" "r.(?)" "p.(Glu142del)" "" "0001011945" "00009522" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Gln208Ter)" "" "0001022590" "00009522" "30" "252" "0" "252" "0" "c.252A>G" "r.(?)" "p.(Glu84=)" "" "0001023857" "00009522" "70" "651" "0" "660" "0" "c.651_660del" "r.(?)" "p.(Gly218Alafs*118)" "1" "0001031909" "00009522" "50" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Asn390Ser)" "" "0001031910" "00009522" "30" "877" "303" "877" "303" "c.877+303T>C" "r.(=)" "p.(=)" "" "0001031911" "00009522" "50" "643" "0" "645" "0" "c.643_645del" "r.(?)" "p.(Lys215del)" "" "0001031912" "00009522" "50" "288" "0" "288" "0" "c.288C>G" "r.(?)" "p.(Ile96Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000117453" "0000188298" "0000145308" "0000236410" "0000236448" "0000480158" "0000290964" "0000647653" "0000303894" "0000667296" "0000304233" "0000667661" "0000307109" "0000673674" "0000310688" "0000685629" "0000316086" "0000698212" "0000333738" "0000731521" "0000375948" "0000787299" "0000417536" "0000877246" "0000436978" "0000931800" "0000437055" "0000931809" "0000437056" "0000931810" "0000437057" "0000931811" "0000437058" "0000931812" "0000437059" "0000931813" "0000439862" "0000935991" "0000439864" "0000935993" "0000451393" "0000985263" "0000457442" "0001011945" "0000463814" "0001023857"