### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RHOBTB2) # 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}}" "RHOBTB2" "Rho-related BTB domain containing 2" "8" "p21.2" "unknown" "NG_047133.1" "UD_132445985065" "" "https://www.LOVD.nl/RHOBTB2" "" "1" "18756" "23221" "607352" "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/RHOBTB2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-04-10 21:42:32" "00000" "2025-07-08 13:22:38" ## 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}}" "00017742" "RHOBTB2" "transcript variant 1" "001" "NM_001160036.1" "" "NP_001153508.1" "" "" "" "-283" "4978" "2250" "22844930" "22877710" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "00285" "-" "epilepsy, focal, dysarthria, intellectual disability, cortical thickening, cerebellar atrophy" "" "" "" "" "" "00081" "2013-11-28 15:59:54" "00006" "2019-02-14 14:51:22" "00841" "EIEE" "encephalopathy, epileptic, early infantile (EIEE)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-02-20 16:58:56" "05591" "EIEE64" "encephalopathy, epileptic, early infantile, type 64 (EIEE-64)" "AD" "618004" "" "autosomal dominant" "" "00006" "2019-04-10 21:43:54" "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 = 2 "{{geneid}}" "{{diseaseid}}" "RHOBTB2" "00841" "RHOBTB2" "05591" ## Individuals ## Do not remove or alter this header ## ## Count = 40 "{{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}}" "00133649" "" "" "" "1" "" "00729" "" "" "F" "-" "" "" "0" "" "" "" "" "00133650" "" "" "" "1" "" "00729" "" "" "" "" "" "" "0" "" "" "" "" "00133651" "" "" "" "1" "" "00729" "" "" "" "" "" "" "0" "" "" "" "" "00133652" "" "" "" "1" "" "00729" "" "" "" "" "" "" "0" "" "" "" "" "00133653" "" "" "" "1" "" "00729" "" "" "" "" "" "" "0" "" "" "" "" "00133654" "" "" "" "1" "" "00729" "" "" "" "" "" "" "0" "" "" "" "" "00133655" "" "" "" "1" "" "00729" "" "" "" "" "" "" "0" "" "" "" "" "00133656" "" "" "" "1" "" "00729" "" "" "" "" "" "" "0" "" "" "" "" "00133658" "" "" "" "1" "" "00729" "" "" "" "" "" "" "0" "" "" "" "" "00133659" "" "" "" "1" "" "00729" "" "" "" "" "" "" "0" "" "" "" "" "00154492" "" "" "" "1" "" "02396" "{PMID:Belal 2018:29768694}, {DOI:Belal 2018:10.1002/humu.23550}" "" "M" "no" "Japan" "" "0" "" "" "Japanese" "Pat1" "00154493" "" "" "" "1" "" "02396" "{PMID:Belal 2018:29768694}, {DOI:Belal 2018:10.1002/humu.23550}" "" "F" "no" "Japan" "" "0" "" "" "Japanese" "Pat2" "00154494" "" "" "" "1" "" "02396" "{PMID:Belal 2018:29768694}, {DOI:Belal 2018:10.1002/humu.23550}" "" "F" "no" "Japan" "" "0" "" "" "Japanese" "Pat3" "00164419" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00229787" "" "" "" "1" "" "00006" "{PMID:Straub 2018:29276004}" "" "F" "" "" "" "0" "" "antiepileptic treatment carbamazepine from 3.5 years (responding, no seizures from the age of >4y)" "" "Individual 1" "00229788" "" "" "" "1" "" "00006" "{PMID:Straub 2018:29276004}" "" "M" "" "" "" "0" "" "antiepileptic treatment neonatally phenobarbital, then carbamazepine (good for seizures, partial for dystonic attacks)" "" "Individual 2" "00229789" "" "" "" "1" "" "00006" "{PMID:Straub 2018:29276004}" "" "F" "" "" "" "0" "" "antiepileptic treatment divalproex sodium, topiramate, zonisamide ketogenic diet, lacosamide, clobazam, phenobarbital, levetiracetam (drug resistance)" "" "Individual 3" "00229790" "" "" "" "1" "" "00006" "{PMID:Straub 2018:29276004}" "" "F" "" "" "" "0" "" "antiepileptic treatment phenobarbital, levetiracetam, clonazepam, memantine (4y-no seizures, then refractory including status epilepticus)" "" "Individual 4" "00229791" "" "" "" "1" "" "00006" "{PMID:Straub 2018:29276004}" "" "F" "" "" "" "0" "" "antiepileptic treatment valproic acid, pyridoxine (responding, response to pyridoxine (two seizures per year))" "" "Individual 5" "00229792" "" "" "" "1" "" "00006" "{PMID:Straub 2018:29276004}" "" "F" "" "" "" "0" "" "antiepileptic treatment carbamazepine (previously lamotrigine, topiramate, phenobarbital) (responding)" "" "Individual 6" "00229793" "" "" "" "1" "" "00006" "{PMID:Straub 2018:29276004}" "" "M" "" "" "" "0" "" "antiepileptic treatment levetiracetam (responding)" "" "Individual 7" "00229794" "" "" "" "1" "" "00006" "{PMID:Straub 2018:29276004}" "" "M" "" "" "" "0" "" "antiepileptic treatment levetiracetam (responding)" "" "Individual 8" "00229795" "" "" "" "1" "" "00006" "{PMID:Straub 2018:29276004}" "" "M" "" "" "" "0" "" "antiepileptic treatment levetiracetam (responding), no seizures from the age of >9m)" "" "Individual 9" "00229796" "" "" "" "1" "" "00006" "{PMID:Straub 2018:29276004}" "" "F" "" "" "" "0" "" "" "" "Individual 10" "00434590" "" "" "" "1" "" "04492" "Langhammer 2023" "" "M" "" "" "" "" "" "" "" "" "00434591" "" "" "" "1" "" "04492" "Langhammer 2023" "" "F" "" "" "" "" "" "" "" "" "00434592" "" "" "" "1" "" "04492" "Langhammer 2023" "" "M" "" "" "" "" "" "" "" "" "00434593" "" "" "" "1" "" "04492" "Langhammer 2023" "" "M" "" "" "" "" "" "" "" "" "00434594" "" "" "" "1" "" "04492" "Langhammer 2023" "" "M" "" "" "" "" "" "" "" "" "00434595" "" "" "" "1" "" "04492" "Langhammer 2023" "" "M" "" "" "" "" "" "" "" "" "00434596" "" "" "" "1" "" "04492" "Langhammer 2023" "" "M" "" "" "" "" "" "" "" "" "00434597" "" "" "" "1" "" "04492" "Langhammer 2023" "" "M" "yes" "" "" "" "" "" "" "" "00434598" "" "" "" "1" "" "04492" "Langhammer 2023\r\nMaddirevula et al., Front Genet, 2020" "" "F" "yes" "" "" "" "" "" "" "" "00434599" "" "" "" "1" "" "04492" "Langhammer 2023" "" "F" "yes" "" "" "" "" "" "" "" "00434600" "" "" "" "1" "" "04492" "Langhammer 2023" "" "M" "yes" "" "" "" "" "" "" "" "00434601" "" "" "" "1" "" "04492" "Langhammer 2023" "" "M" "yes" "" "" "" "" "" "" "" "00434602" "" "" "" "1" "" "04492" "Langhammer 2023" "" "M" "yes" "" "" "" "" "" "" "" "00434603" "" "" "" "1" "" "04492" "Langhammer 2023" "" "F" "yes" "" "" "" "" "" "" "" "00434604" "" "" "" "1" "" "04492" "Langhammer 2023" "" "M" "" "" "" "" "" "" "" "" "00434605" "" "" "" "1" "" "04492" "Langhammer 2023" "" "F" "" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 40 "{{individualid}}" "{{diseaseid}}" "00133649" "00139" "00133650" "00139" "00133651" "00139" "00133652" "00139" "00133653" "00139" "00133654" "00139" "00133655" "00139" "00133656" "00139" "00133658" "00139" "00133659" "00139" "00154492" "00285" "00154493" "00285" "00154494" "00285" "00164419" "00198" "00229787" "00841" "00229788" "00841" "00229789" "00841" "00229790" "00841" "00229791" "00841" "00229792" "00841" "00229793" "00841" "00229794" "00841" "00229795" "00841" "00229796" "00841" "00434590" "05611" "00434591" "05611" "00434592" "05611" "00434593" "05611" "00434594" "05611" "00434595" "05611" "00434596" "05611" "00434597" "05611" "00434598" "05611" "00434599" "05611" "00434600" "05611" "00434601" "05611" "00434602" "05611" "00434603" "05611" "00434604" "05611" "00434605" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00285, 00841, 05591, 05611 ## Count = 24 "{{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}}" "0000106399" "00139" "00133649" "00729" "Isolated (sporadic)" "" "severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); severe speech delay (HP:0000750)" "" "" "" "" "" "severe" "" "" "" "" "" "" "0000106400" "00139" "00133650" "00729" "Isolated (sporadic)" "" "severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); no speech (HP:0001344)" "" "" "" "" "" "severe" "" "" "" "" "" "" "0000106401" "00139" "00133651" "00729" "Isolated (sporadic)" "" "profound intellectual disability (HP:0002187); profound global developmental delay (HP:0012736); no speech (HP:0001344)" "" "" "" "" "" "profound" "" "" "" "" "" "" "0000106402" "00139" "00133652" "00729" "Isolated (sporadic)" "" "severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); no speech (HP:0001344)" "" "" "" "" "" "severe" "" "" "" "" "" "" "0000106403" "00139" "00133653" "00729" "Isolated (sporadic)" "" "severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); no speech (HP:0001344)" "" "" "" "" "" "severe" "" "" "" "" "" "" "0000106404" "00139" "00133654" "00729" "Isolated (sporadic)" "" "severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); no speech (HP:0001344)" "" "" "" "" "" "severe" "" "" "" "" "" "" "0000106405" "00139" "00133655" "00729" "Isolated (sporadic)" "" "severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); no speech (HP:0001344)" "" "" "" "" "" "severe" "" "" "" "" "" "" "0000106406" "00139" "00133656" "00729" "Isolated (sporadic)" "" "moderate intellectual disability (HP:0002342); moderate global developmental delay (HP:0011343); severe speech delay (HP:0000750)" "" "" "" "" "" "moderate" "" "" "" "" "" "" "0000106407" "00139" "00133658" "00729" "Isolated (sporadic)" "" "severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); no speech (HP:0001344)" "" "" "" "" "" "severe" "" "" "" "" "" "" "0000106408" "00139" "00133659" "00729" "Isolated (sporadic)" "" "severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); poor speech (HP:0002465)" "" "" "" "" "" "severe" "" "" "" "" "" "" "0000127226" "00285" "00154492" "02396" "Isolated (sporadic)" "" "see paper; ..., microcephaly, Delayed myelination, brain atrophy, spastic quadriplegis, dyskinesia" "00y03m" "" "" "" "" "" "" "" "" "" "" "" "0000127227" "00285" "00154493" "02396" "Isolated (sporadic)" "" "see paper; ..., microcephaly, brain atrophy, cortical blindness, spastic quadriplegia, athetoid movement" "00y03m" "" "" "" "" "" "" "" "" "" "" "" "0000127228" "00285" "00154494" "02396" "Isolated (sporadic)" "09y" "see paper; ..., dyskinesia; myoclonic seizure, tonic seizure, febrile status epilepticus, complex focal seizures evoked by visual pattern;" "01y03m" "" "" "" "" "" "" "" "" "" "" "" "0000129478" "00198" "00164419" "01807" "Unknown" "" "Intellectual disability (HP:0001249); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "" "0000172993" "00841" "00229787" "00006" "Isolated (sporadic)" "8y4m" "does not walk; speaks few short words; comprehension severely limited; no regression; severe DD or ID; 2m-onset seizures; no MRI anomalies; truncal hypotonia; hypertonia lower limbs; paroxysmal movement disorder; no stereotypies; limited interaction, easy smiling and laughing; face Pitt-Hopkins-like; 6-7m-transient strabismus, mild constipation" "" "" "" "" "" "" "" "" "" "EIEE-64" "early infantil epileptic encephalopathy" "" "0000172994" "00841" "00229788" "00006" "Isolated (sporadic)" "3y6m" "2.5y-does not walk ; no speech; comprehension limited; no regression; severe DD or ID; 4d-onset seizures (generalized); delayed myelinationMRI ; hypotonia; choreatic, dystonic, paroxysmal dyskinetic attacks; no stereotypies; no behavioral anomalies ; low nasal bridge, epicanthal folds" "" "" "" "" "" "" "" "" "" "EIEE-64" "early infantil epileptic encephalopathy" "" "0000172995" "00841" "00229789" "00006" "Isolated (sporadic)" "8y" "does not walk; no speech; comprehension turns to voice only; 6m-regression; profound DD or ID; 6m-onset seizures (status epilepticus); MRI enlarged ventricles, prominent cortical sulci, thin corpus callosum; hypotonia; dystonic movement disorder; no stereotypies; no behavioral anomalies; hirsute long eyelashes, micrognathia, large pinnae; 3y-left hemiplegia after status epilepticus" "" "" "" "" "" "" "" "" "" "EIEE-64" "early infantil epileptic encephalopathy" "" "0000172996" "00841" "00229790" "00006" "Isolated (sporadic)" "11y" "does not walk; no speech; comprehension limited; regression after seizures; severe DD or ID; 10w-onset seizures (focal, sec. generalized; later status epilepticus); MRI thin corpus callosum, cerebellar hypoplasia, prominent opercula, later cortical atrophy; truncal hypotonia; hypertonia limbs; no movement disorder; stereotypic hand movements; no behavioral anomalies ; sparse eyebrows, deep-set eyes, depressed nasal root, slightly low insertion of columella; hemiparesis after status epilepticus" "" "" "" "" "" "" "" "" "" "EIEE-64" "early infantil epileptic encephalopathy" "" "0000172997" "00841" "00229791" "00006" "Isolated (sporadic)" "14y" "walks with support; no speech; no comprehension ; regression; severe DD or ID (IQ <30); 4w-onset seizures (2x status epilepticus); MRI secondarily acute diffusion and white-matter abnormalities, atrophy; hypotonia; movement disorder; no stereotypies; pleasant behavior; full lower lip, flat maxillae; 14y-acute onset of hemiparesis during febrile short-lasting seizure" "" "" "" "" "" "" "" "" "" "EIEE-64" "early infantil epileptic encephalopathy" "" "0000172998" "00841" "00229792" "00006" "Isolated (sporadic)" "17y" "walks short distances; no speech; comprehension severely limited; 4m-possible regression; severe DD or ID; 4m-onset seizures; no MRI anomalies; hypotonia; no hypertonia; dystonic movement disorder; stereotypic repetitive behaviors; noise sensitivity, self-harm (exacerbated by anxiety); deep-set eyes, epicanthal folds, low anterior hairline, thick arched eyebrows, broad nasal tip" "" "" "" "" "" "" "" "" "" "EIEE-64" "early infantil epileptic encephalopathy" "" "0000172999" "00841" "00229793" "00006" "Isolated (sporadic)" "7y" "5y-walks few steps; no speech; comprehension severely limited; no regression; severe DD or ID; 4m-onset seizures (complex partial, generalized tonic clonic); no MRI anomalies; truncal hypotonia; hypertonia limbs; paroxysmal, dystonic-athetoid attacks; no stereotypies; behavioral anomalies; dolichocephaly, wide-spaced teeth; hyperreflexia, mild oculomotor apraxia, insomnia, constipation" "" "" "" "" "" "" "" "" "" "EIEE-64" "early infantil epileptic encephalopathy" "" "0000173000" "00841" "00229794" "00006" "Isolated (sporadic)" "3y" "3y-walks; speaks few short words; comprehension good; 3y-regression; moderate DD or ID; 3y-onset seizures (focal status); MRI right hemispheric swelling after left hemiplegia and focal seizures; axial hypotonia; hypertonia mild left spastic hemiparesis; paroxysmal dystonic attacks; no stereotypies; no behavioral anomalies ; slightly smooth philtrum; left hemiplegia, bilateral fifth-finger clinodactyly" "" "" "" "" "" "" "" "" "" "EIEE-64" "early infantil epileptic encephalopathy" "" "0000173001" "00841" "00229795" "00006" "Isolated (sporadic)" "23m" "does not walk; no speech; comprehension very limited; 4m-regression stagnation; severe DD or ID; 9m-onset seizures (status epilepticus); no MRI anomalies; truncal hypotonia; hypertonia lower limbs; chorea-like movement disorder (limbs); stereotypic hands in mouth; intense stare, uncontrollable laughter, bruxism, pleasant behavior; large ears, thin upper lip, slightly upturned nose" "" "" "" "" "" "" "" "" "" "EIEE-64" "early infantil epileptic encephalopathy" "" "0000173002" "00841" "00229796" "00006" "Isolated (sporadic)" "11y6m" "1.5y-walks; speaks rare two-word combination; comprehension good; no regression; severe DD or ID; 5.5m-onset seizures (febrile), >6y-no febrile seizures; no MRI anomalies; no hypotonia; no hypertonia; no movement disorder; no stereotypies; autistic, biting, head banging; long philtrum" "" "" "" "" "" "" "" "" "" "EIEE-64" "early infantil epileptic encephalopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 40 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000134487" "00133649" "1" "00729" "00729" "2017-11-16 11:43:41" "" "" "SEQ-NG" "DNA" "" "" "0000134488" "00133650" "1" "00729" "00729" "2017-11-16 12:37:14" "" "" "SEQ-NG" "DNA" "" "" "0000134489" "00133651" "1" "00729" "00729" "2017-11-16 12:41:42" "" "" "SEQ-NG" "DNA" "" "" "0000134490" "00133652" "1" "00729" "00729" "2017-11-16 12:45:43" "" "" "SEQ-NG" "DNA" "" "" "0000134491" "00133653" "1" "00729" "00729" "2017-11-16 12:48:05" "" "" "SEQ-NG" "DNA" "" "" "0000134492" "00133654" "1" "00729" "00729" "2017-11-16 12:51:15" "" "" "SEQ-NG" "DNA" "" "" "0000134493" "00133655" "1" "00729" "00729" "2017-11-16 12:54:27" "" "" "SEQ-NG" "DNA" "" "" "0000134494" "00133656" "1" "00729" "00729" "2017-11-16 12:57:15" "" "" "SEQ-NG" "DNA" "" "" "0000134496" "00133658" "1" "00729" "00729" "2017-11-16 12:59:21" "" "" "SEQ-NG" "DNA" "" "" "0000134497" "00133659" "1" "00729" "00729" "2017-11-16 13:02:24" "" "" "SEQ-NG" "DNA" "" "" "0000155351" "00154492" "1" "02396" "02396" "2018-02-27 11:53:38" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000155352" "00154493" "1" "02396" "02396" "2018-02-27 12:05:32" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000155353" "00154494" "1" "02396" "02396" "2018-02-27 12:11:39" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000165286" "00164419" "1" "01807" "01807" "2018-05-17 16:06:47" "" "" "SEQ" "DNA" "" "" "0000230880" "00229787" "1" "00006" "00006" "2019-04-10 22:37:14" "" "" "SEQ" "DNA" "" "WES" "0000230881" "00229788" "1" "00006" "00006" "2019-04-10 22:37:14" "" "" "SEQ" "DNA" "" "WES" "0000230882" "00229789" "1" "00006" "00006" "2019-04-10 22:37:14" "" "" "SEQ" "DNA" "" "WES" "0000230883" "00229790" "1" "00006" "00006" "2019-04-10 22:37:14" "" "" "SEQ" "DNA" "" "WES" "0000230884" "00229791" "1" "00006" "00006" "2019-04-10 22:37:14" "" "" "SEQ" "DNA" "" "WES" "0000230885" "00229792" "1" "00006" "00006" "2019-04-10 22:37:14" "" "" "SEQ" "DNA" "" "WES" "0000230886" "00229793" "1" "00006" "00006" "2019-04-10 22:37:14" "" "" "SEQ" "DNA" "" "WES" "0000230887" "00229794" "1" "00006" "00006" "2019-04-10 22:37:14" "" "" "SEQ" "DNA" "" "WES" "0000230888" "00229795" "1" "00006" "00006" "2019-04-10 22:37:14" "" "" "SEQ" "DNA" "" "WES" "0000230889" "00229796" "1" "00006" "00006" "2019-04-10 22:37:14" "" "" "SEQ" "DNA" "" "WES" "0000436058" "00434590" "1" "04492" "04492" "2023-04-03 10:46:12" "" "" "SEQ-NG-I" "DNA" "" "" "0000436059" "00434591" "1" "04492" "04492" "2023-04-03 10:54:54" "" "" "SEQ-NG-I" "DNA" "" "" "0000436060" "00434592" "1" "04492" "04492" "2023-04-03 10:57:45" "" "" "SEQ-NG-I" "DNA" "" "" "0000436061" "00434593" "1" "04492" "04492" "2023-04-03 11:00:24" "" "" "SEQ-NG-I" "DNA" "" "" "0000436062" "00434594" "1" "04492" "04492" "2023-04-03 11:04:37" "" "" "SEQ-NG-I" "DNA" "" "" "0000436063" "00434595" "1" "04492" "04492" "2023-04-03 11:10:34" "" "" "SEQ-NG-I" "DNA" "" "" "0000436064" "00434596" "1" "04492" "04492" "2023-04-03 11:19:57" "" "" "SEQ-NG-I" "DNA" "" "" "0000436065" "00434597" "1" "04492" "04492" "2023-04-03 11:47:37" "" "" "SEQ-NG-I" "DNA" "" "" "0000436066" "00434598" "1" "04492" "04492" "2023-04-03 11:56:38" "" "" "SEQ-NG-I" "DNA" "" "" "0000436067" "00434599" "1" "04492" "04492" "2023-04-03 12:01:11" "04492" "2023-04-03 12:06:24" "?" "DNA" "" "" "0000436069" "00434600" "1" "04492" "04492" "2023-04-03 12:08:49" "" "" "SEQ-NG-I" "DNA" "" "" "0000436070" "00434601" "1" "04492" "04492" "2023-04-03 12:10:48" "" "" "SEQ-NG-I" "DNA" "" "" "0000436071" "00434602" "1" "04492" "04492" "2023-04-03 12:25:53" "" "" "?" "DNA" "" "" "0000436072" "00434603" "1" "04492" "04492" "2023-04-03 12:32:59" "" "" "SEQ-NG-I" "DNA" "" "" "0000436073" "00434604" "1" "04492" "04492" "2023-04-03 12:35:37" "" "" "SEQ-NG-I" "DNA" "" "" "0000436074" "00434605" "1" "04492" "04492" "2023-04-03 12:37:50" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000134487" "RHOBTB2" "0000155351" "RHOBTB2" "0000155352" "RHOBTB2" "0000155353" "RHOBTB2" "0000230880" "RHOBTB2" "0000230881" "RHOBTB2" "0000230882" "RHOBTB2" "0000230883" "RHOBTB2" "0000230884" "RHOBTB2" "0000230885" "RHOBTB2" "0000230886" "RHOBTB2" "0000230887" "RHOBTB2" "0000230888" "RHOBTB2" "0000230889" "RHOBTB2" ## 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 = 71 "{{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}}" "0000171383" "0" "55" "8" "22877651" "22877651" "subst" "0.000482265" "01911" "TNFRSF10B_000039" "g.22877651A>T" "" "1000 Genomes 1KG_8_22877651" "" "" "UTR variant" "Germline" "" "" "0" "" "" "g.23020138A>T" "" "VUS" "" "0000224490" "0" "90" "8" "22865140" "22865140" "subst" "0" "00729" "RHOBTB2_000001" "g.22865140G>A" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.23007627G>A" "" "pathogenic" "ACMG" "0000224491" "0" "90" "8" "22865140" "22865140" "subst" "0" "00729" "RHOBTB2_000001" "g.22865140G>A" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.23007627G>A" "" "pathogenic" "ACMG" "0000224492" "0" "90" "8" "22865140" "22865140" "subst" "0" "00729" "RHOBTB2_000001" "g.22865140G>A" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.23007627G>A" "" "pathogenic" "ACMG" "0000224493" "0" "90" "8" "22865140" "22865140" "subst" "0" "00729" "RHOBTB2_000001" "g.22865140G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.23007627G>A" "" "pathogenic" "ACMG" "0000224494" "0" "90" "8" "22865224" "22865224" "subst" "0" "00729" "RHOBTB2_000002" "g.22865224G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.23007711G>A" "" "pathogenic" "ACMG" "0000224495" "0" "90" "8" "22865224" "22865224" "subst" "0" "00729" "RHOBTB2_000002" "g.22865224G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.23007711G>A" "" "pathogenic" "ACMG" "0000224496" "0" "70" "8" "22865223" "22865223" "subst" "0" "00729" "RHOBTB2_000003" "g.22865223C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.23007710C>T" "" "likely pathogenic" "" "0000224497" "0" "70" "8" "22865223" "22865223" "subst" "0" "00729" "RHOBTB2_000003" "g.22865223C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.23007710C>T" "" "likely pathogenic" "" "0000224498" "0" "70" "8" "22865220" "22865220" "subst" "0" "00729" "RHOBTB2_000004" "g.22865220A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.23007707A>G" "" "pathogenic" "ACMG" "0000224499" "0" "90" "8" "22865113" "22865113" "subst" "0" "00729" "RHOBTB2_000005" "g.22865113C>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.23007600C>G" "" "likely pathogenic" "ACMG" "0000311911" "0" "10" "8" "22926313" "22926313" "subst" "0.679347" "02325" "TNFRSF10B_000003" "g.22926313G>A" "" "" "" "LOC286059(NR_038873.1):n.192+380G>A, TNFRSF10B(NM_003842.5):c.95C>T (p.P32L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23068800G>A" "" "benign" "" "0000316799" "0" "50" "8" "22884737" "22884737" "subst" "0.000134125" "01943" "TNFRSF10B_000029" "g.22884737G>T" "" "" "" "TNFRSF10B(NM_003842.4):c.845C>A (p.T282N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23027224G>T" "" "VUS" "" "0000342975" "0" "50" "8" "22865140" "22865140" "subst" "0" "02327" "RHOBTB2_000001" "g.22865140G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23007627G>A" "" "VUS" "" "0000343093" "0" "90" "8" "22865224" "22865224" "subst" "0" "02327" "RHOBTB2_000002" "g.22865224G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23007711G>A" "" "pathogenic" "" "0000350371" "0" "10" "8" "22886020" "22886020" "subst" "0.892442" "02327" "TNFRSF10B_000011" "g.22886020A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23028507A>G" "" "benign" "" "0000355071" "0" "70" "8" "22865224" "22865224" "subst" "0" "02396" "RHOBTB2_000002" "g.22865224G>A" "" "{PMID:Belal 2018:29768694}, {DOI:Belal 2018:10.1002/humu.23550}" "" "" "" "De novo" "" "" "0" "" "" "g.23007711G>A" "" "likely pathogenic" "" "0000355072" "0" "70" "8" "22865140" "22865140" "subst" "0" "02396" "RHOBTB2_000001" "g.22865140G>A" "" "{PMID:Belal 2018:29768694}, {DOI:Belal 2018:10.1002/humu.23550}" "" "" "" "De novo" "" "" "0" "" "" "g.23007627G>A" "" "likely pathogenic" "" "0000355073" "0" "70" "8" "22865211" "22865211" "subst" "0" "02396" "RHOBTB2_000007" "g.22865211C>T" "" "{PMID:Belal 2018:29768694}, {DOI:Belal 2018:10.1002/humu.23550}" "" "" "" "De novo" "" "" "0" "" "" "g.23007698C>T" "" "likely pathogenic" "" "0000368944" "0" "70" "8" "22865223" "22865223" "subst" "0" "01807" "RHOBTB2_000008" "g.22865223C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.23007710C>G" "" "likely pathogenic" "" "0000472558" "0" "90" "8" "22865140" "22865140" "subst" "0" "00006" "RHOBTB2_000001" "g.22865140G>A" "" "{PMID:Straub 2018:29276004}" "" "" "" "De novo" "" "" "0" "" "" "g.23007627G>A" "" "pathogenic (dominant)" "" "0000472559" "0" "90" "8" "22865140" "22865140" "subst" "0" "00006" "RHOBTB2_000001" "g.22865140G>A" "g.?" "{PMID:Straub 2018:29276004}" "" "" "" "De novo" "" "" "0" "" "" "g.23007627G>A" "" "pathogenic (dominant)" "" "0000472560" "0" "90" "8" "22865140" "22865140" "subst" "0" "00006" "RHOBTB2_000001" "g.22865140G>A" "" "{PMID:Straub 2018:29276004}" "" "" "" "De novo" "" "" "0" "" "" "g.23007627G>A" "" "pathogenic (dominant)" "" "0000472561" "0" "90" "8" "22865140" "22865140" "subst" "0" "00006" "RHOBTB2_000001" "g.22865140G>A" "" "{PMID:Straub 2018:29276004}" "" "" "" "De novo" "" "" "0" "" "" "g.23007627G>A" "" "pathogenic (dominant)" "" "0000472562" "0" "90" "8" "22865224" "22865224" "subst" "0" "00006" "RHOBTB2_000002" "g.22865224G>A" "" "{PMID:Straub 2018:29276004}" "" "" "" "De novo" "" "" "0" "" "" "g.23007711G>A" "" "pathogenic (dominant)" "" "0000472563" "0" "90" "8" "22865224" "22865224" "subst" "0" "00006" "RHOBTB2_000002" "g.22865224G>A" "" "{PMID:Straub 2018:29276004}" "" "" "" "De novo" "" "" "0" "" "" "g.23007711G>A" "" "pathogenic (dominant)" "" "0000472564" "0" "90" "8" "22865223" "22865223" "subst" "0" "00006" "RHOBTB2_000003" "g.22865223C>T" "" "{PMID:Straub 2018:29276004}" "" "" "" "De novo" "" "" "0" "" "" "g.23007710C>T" "" "pathogenic (dominant)" "" "0000472565" "0" "90" "8" "22865223" "22865223" "subst" "0" "00006" "RHOBTB2_000003" "g.22865223C>T" "" "{PMID:Straub 2018:29276004}" "" "" "" "De novo" "" "" "0" "" "" "g.23007710C>T" "" "pathogenic (dominant)" "" "0000472566" "0" "90" "8" "22865220" "22865220" "subst" "0" "00006" "RHOBTB2_000004" "g.22865220A>G" "" "{PMID:Straub 2018:29276004}" "" "" "" "De novo" "" "" "0" "" "" "g.23007707A>G" "" "pathogenic (dominant)" "" "0000472567" "0" "90" "8" "22865113" "22865113" "subst" "0" "00006" "RHOBTB2_000005" "g.22865113C>G" "" "{PMID:Straub 2018:29276004}" "" "" "" "De novo" "" "" "0" "" "" "g.23007600C>G" "" "pathogenic (dominant)" "" "0000534590" "0" "50" "8" "22865533" "22865533" "subst" "0" "01943" "RHOBTB2_000009" "g.22865533C>T" "" "" "" "RHOBTB2(NM_015178.2):c.1529C>T (p.T510I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23008020C>T" "" "VUS" "" "0000803604" "0" "50" "8" "22864341" "22864341" "subst" "1.62451E-5" "02325" "RHOBTB2_000010" "g.22864341G>A" "" "" "" "RHOBTB2(NM_001160036.2):c.649G>A (p.G217S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803605" "0" "30" "8" "22868115" "22868115" "subst" "4.06134E-6" "01943" "RHOBTB2_000011" "g.22868115T>C" "" "" "" "RHOBTB2(NM_015178.2):c.1685T>C (p.M562T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803606" "0" "50" "8" "22874842" "22874842" "subst" "2.03039E-5" "02325" "RHOBTB2_000012" "g.22874842C>T" "" "" "" "RHOBTB2(NM_001160036.2):c.2110C>T (p.R704W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851893" "0" "30" "8" "22864588" "22864588" "subst" "0.000312883" "02325" "RHOBTB2_000013" "g.22864588G>A" "" "" "" "RHOBTB2(NM_001160036.2):c.896G>A (p.R299H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888311" "0" "30" "8" "22864492" "22864492" "subst" "0.00139762" "02325" "RHOBTB2_000014" "g.22864492T>C" "" "" "" "RHOBTB2(NM_001160036.2):c.800T>C (p.V267A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888312" "0" "30" "8" "22873221" "22873221" "subst" "0.00198858" "02325" "RHOBTB2_000015" "g.22873221G>A" "" "" "" "RHOBTB2(NM_001160036.2):c.1997G>A (p.R666H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912941" "0" "50" "8" "22864308" "22864308" "subst" "0" "02325" "RHOBTB2_000016" "g.22864308C>G" "" "" "" "RHOBTB2(NM_001160036.2):c.616C>G (p.P206A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000922394" "0" "70" "8" "22862966" "22862966" "subst" "0" "04492" "RHOBTB2_000017" "g.22862966G>C" "" "Langhammer 2023" "" "" "" "De novo" "" "" "0" "" "" "g.23005453G>C" "" "likely pathogenic" "ACMG" "0000922395" "0" "70" "8" "22862972" "22862972" "subst" "0" "04492" "RHOBTB2_000021" "g.22862972C>T" "" "Langhammer 2023" "" "" "" "De novo" "" "" "0" "" "" "g.23005459C>T" "" "likely pathogenic" "ACMG" "0000922396" "0" "70" "8" "22863571" "22863571" "subst" "0" "04492" "RHOBTB2_000023" "g.22863571G>A" "" "Langhammer 2023" "" "" "" "De novo" "" "" "0" "" "" "g.23006058G>A" "" "likely pathogenic" "ACMG" "0000922397" "0" "70" "8" "22863571" "22863571" "subst" "0" "04492" "RHOBTB2_000024" "g.22863571G>T" "" "Langhammer 2023" "" "" "" "De novo" "" "" "0" "" "" "g.23006058G>T" "" "likely pathogenic" "ACMG" "0000922398" "0" "50" "8" "22863658" "22863658" "subst" "0" "04492" "RHOBTB2_000026" "g.22863658G>T" "" "Langhammer 2023" "" "" "" "De novo" "" "" "0" "" "" "g.23006145G>T" "" "VUS" "ACMG" "0000922399" "0" "50" "8" "22864477" "22864477" "subst" "0" "04492" "RHOBTB2_000027" "g.22864477C>T" "" "Langhammer 2023" "" "" "" "De novo" "" "" "0" "" "" "g.23006964C>T" "" "VUS" "ACMG" "0000922400" "0" "70" "8" "22865104" "22865104" "subst" "0" "04492" "RHOBTB2_000028" "g.22865104C>T" "" "Langhammer 2023" "" "" "" "De novo" "" "" "0" "" "" "g.23007591C>T" "" "likely pathogenic" "ACMG" "0000922401" "3" "70" "8" "22862143" "22862143" "subst" "3.35374E-5" "04492" "RHOBTB2_000018" "g.22862143A>C" "" "Langhammer 2023" "" "" "" "Germline" "yes" "" "0" "" "" "g.23004630A>C" "" "likely pathogenic" "ACMG" "0000922402" "3" "70" "8" "22863570" "22863570" "subst" "0" "04492" "RHOBTB2_000022" "g.22863570C>T" "" "Langhammer 2023" "" "" "" "Germline" "yes" "" "0" "" "" "g.23006057C>T" "" "likely pathogenic" "ACMG" "0000922403" "3" "70" "8" "22863645" "22863645" "subst" "0" "04492" "RHOBTB2_000025" "g.22863645C>T" "" "Langhammer 2023" "" "" "" "Germline" "" "" "0" "" "" "g.23006132C>T" "" "likely pathogenic" "ACMG" "0000922404" "3" "70" "8" "22865564" "22865564" "del" "0" "04492" "RHOBTB2_000029" "g.22865564del" "" "Langhammer 2023" "" "" "" "Germline" "" "" "0" "" "" "g.23008051del" "" "likely pathogenic" "ACMG" "0000922405" "3" "70" "8" "22873222" "22873222" "dup" "0" "04492" "RHOBTB2_000030" "g.22873222dup" "" "Langhammer 2023" "" "" "" "Germline" "" "" "0" "" "" "g.23015709dup" "" "likely pathogenic" "ACMG" "0000922406" "3" "70" "8" "22873232" "22873232" "subst" "8.13431E-6" "04492" "RHOBTB2_000031" "g.22873232C>T" "" "Langhammer 2023" "" "" "" "Germline" "yes" "" "0" "" "" "g.23015719C>T" "" "VUS" "ACMG" "0000922407" "3" "70" "8" "22873257" "22873257" "subst" "0" "04492" "RHOBTB2_000032" "g.22873257G>C" "" "Langhammer 2023" "" "" "" "Germline" "" "" "0" "" "" "g.23015744G>C" "" "VUS" "ACMG" "0000922408" "3" "50" "8" "22874832" "22874832" "subst" "4.06062E-6" "04492" "RHOBTB2_000033" "g.22874832C>G" "" "Langhammer 2023" "" "" "" "Germline" "" "" "0" "" "" "g.23017319C>G" "" "VUS" "ACMG" "0000922409" "11" "70" "8" "22862940" "22862940" "subst" "4.06144E-6" "04492" "RHOBTB2_000019" "g.22862940G>A" "" "Langhammer 2023" "" "" "" "Germline" "" "" "0" "" "" "g.23005427G>A" "" "likely pathogenic" "ACMG" "0000922410" "21" "50" "8" "22865505" "22865505" "subst" "0" "04492" "RHOBTB2_000020" "g.22865505G>A" "" "Langhammer 2023" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000978170" "0" "50" "8" "22864465" "22864465" "subst" "0" "02325" "RHOBTB2_000034" "g.22864465C>G" "" "" "" "RHOBTB2(NM_001160036.2):c.773C>G (p.P258R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978171" "0" "50" "8" "22864720" "22864720" "subst" "0" "01804" "RHOBTB2_000035" "g.22864720G>T" "" "" "" "RHOBTB2(NM_015178.3):c.962G>T (p.(Gly321Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978172" "0" "50" "8" "22864846" "22864846" "subst" "2.03671E-5" "02325" "RHOBTB2_000036" "g.22864846G>A" "" "" "" "RHOBTB2(NM_001160036.2):c.1154G>A (p.R385H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978173" "0" "90" "8" "22865211" "22865211" "subst" "0" "02326" "RHOBTB2_000007" "g.22865211C>T" "" "" "" "RHOBTB2(NM_001160036.2):c.1519C>T (p.R507C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000997113" "0" "30" "8" "22852101" "22852101" "subst" "1.34479E-5" "01804" "RHOBTB2_000037" "g.22852101A>C" "" "" "" "RHOBTB2(NM_001160036.1):c.5A>C (p.(Gln2Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997114" "0" "50" "8" "22853395" "22853395" "subst" "3.36107E-5" "01804" "RHOBTB2_000038" "g.22853395G>A" "" "" "" "RHOBTB2(NM_001160037.1):c.11G>A (p.(Arg4Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997115" "0" "30" "8" "22862143" "22862143" "subst" "3.35374E-5" "01804" "RHOBTB2_000018" "g.22862143A>C" "" "" "" "RHOBTB2(NM_015178.2):c.192+4A>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997116" "0" "50" "8" "22863663" "22863663" "subst" "4.10833E-6" "01804" "RHOBTB2_000039" "g.22863663G>A" "" "" "" "RHOBTB2(NM_015178.2):c.482+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997117" "0" "50" "8" "22872256" "22872256" "subst" "8.12605E-6" "01804" "RHOBTB2_000040" "g.22872256G>A" "" "" "" "RHOBTB2(NM_015178.2):c.1825G>A (p.(Asp609Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997118" "0" "50" "8" "22874837" "22874837" "subst" "0" "01804" "RHOBTB2_000041" "g.22874837G>A" "" "" "" "RHOBTB2(NM_015178.2):c.2039G>A (p.(Arg680Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997119" "0" "50" "8" "22874894" "22874894" "subst" "8.12427E-6" "01804" "RHOBTB2_000042" "g.22874894G>A" "" "" "" "RHOBTB2(NM_015178.2):c.2096G>A (p.(Arg699Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014438" "0" "50" "8" "22865037" "22865037" "subst" "5.69036E-5" "02325" "RHOBTB2_000043" "g.22865037C>T" "" "" "" "RHOBTB2(NM_001160036.2):c.1345C>T (p.R449W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014439" "0" "30" "8" "22872240" "22872240" "subst" "0.000101558" "02326" "RHOBTB2_000044" "g.22872240G>A" "" "" "" "RHOBTB2(NM_001160036.2):c.1875G>A (p.Q625=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025514" "0" "50" "8" "22873203" "22873203" "subst" "8.12539E-6" "02325" "RHOBTB2_000045" "g.22873203A>G" "" "" "" "RHOBTB2(NM_001160036.2):c.1979A>G (p.N660S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036919" "0" "50" "8" "22868183" "22868183" "subst" "0" "02325" "RHOBTB2_000046" "g.22868183C>T" "" "" "" "RHOBTB2(NM_001160036.2):c.1819C>T (p.H607Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046157" "0" "30" "8" "22864492" "22864492" "subst" "0.00139762" "02326" "RHOBTB2_000014" "g.22864492T>C" "" "" "" "RHOBTB2(NM_001160036.2):c.800T>C (p.V267A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes RHOBTB2 ## Count = 71 "{{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}}" "0000171383" "00017742" "00" "4919" "0" "4919" "0" "c.*2669A>T" "r.(=)" "p.(=)" "" "0000224490" "00017742" "90" "1448" "0" "1448" "0" "c.1448G>A" "r.(?)" "p.(Arg483His)" "" "0000224491" "00017742" "90" "1448" "0" "1448" "0" "c.1448G>A" "r.(?)" "p.(Arg483His)" "" "0000224492" "00017742" "90" "1448" "0" "1448" "0" "c.1448G>A" "r.(?)" "p.(Arg483His)" "" "0000224493" "00017742" "90" "1448" "0" "1448" "0" "c.1448G>A" "r.(?)" "p.(Arg483His)" "" "0000224494" "00017742" "90" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511Gln)" "" "0000224495" "00017742" "90" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511Gln)" "" "0000224496" "00017742" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Trp)" "" "0000224497" "00017742" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Trp)" "" "0000224498" "00017742" "70" "1528" "0" "1528" "0" "c.1528A>G" "r.(?)" "p.(Asn510Asp)" "" "0000224499" "00017742" "90" "1421" "0" "1421" "0" "c.1421C>G" "r.(?)" "p.(Ala474Gly)" "" "0000311911" "00017742" "10" "53581" "0" "53581" "0" "c.*51331G>A" "r.(=)" "p.(=)" "" "0000316799" "00017742" "50" "12005" "0" "12005" "0" "c.*9755G>T" "r.(=)" "p.(=)" "" "0000342975" "00017742" "50" "1448" "0" "1448" "0" "c.1448G>A" "r.(?)" "p.(Arg483His)" "" "0000343093" "00017742" "90" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511Gln)" "" "0000350371" "00017742" "10" "13288" "0" "13288" "0" "c.*11038A>G" "r.(=)" "p.(=)" "" "0000355071" "00017742" "70" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511Gln)" "7" "0000355072" "00017742" "70" "1448" "0" "1448" "0" "c.1448G>A" "r.(?)" "p.(Arg483His)" "7" "0000355073" "00017742" "70" "1519" "0" "1519" "0" "c.1519C>T" "r.(?)" "p.(Arg507Cys)" "7" "0000368944" "00017742" "70" "1531" "0" "1531" "0" "c.1531C>G" "r.(?)" "p.(Arg511Gly)" "" "0000472558" "00017742" "90" "1448" "0" "1448" "0" "c.1448G>A" "r.(?)" "p.(Arg483His)" "" "0000472559" "00017742" "90" "1448" "0" "1448" "0" "c.1448G>A" "r.(?)" "p.(Arg483His)" "" "0000472560" "00017742" "90" "1448" "0" "1448" "0" "c.1448G>A" "r.(?)" "p.(Arg483His)" "" "0000472561" "00017742" "90" "1448" "0" "1448" "0" "c.1448G>A" "r.(?)" "p.(Arg483His)" "" "0000472562" "00017742" "90" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511Gln)" "" "0000472563" "00017742" "90" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511Gln)" "" "0000472564" "00017742" "90" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Trp)" "" "0000472565" "00017742" "90" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Trp)" "" "0000472566" "00017742" "90" "1528" "0" "1528" "0" "c.1528A>G" "r.(?)" "p.(Asn510Asp)" "" "0000472567" "00017742" "90" "1421" "0" "1421" "0" "c.1421C>G" "r.(?)" "p.(Ala474Gly)" "" "0000534590" "00017742" "50" "1595" "0" "1595" "0" "c.1595C>T" "r.(?)" "p.(Thr532Ile)" "" "0000803604" "00017742" "50" "649" "0" "649" "0" "c.649G>A" "r.(?)" "p.(Gly217Ser)" "" "0000803605" "00017742" "30" "1751" "0" "1751" "0" "c.1751T>C" "r.(?)" "p.(Met584Thr)" "" "0000803606" "00017742" "50" "2110" "0" "2110" "0" "c.2110C>T" "r.(?)" "p.(Arg704Trp)" "" "0000851893" "00017742" "30" "896" "0" "896" "0" "c.896G>A" "r.(?)" "p.(Arg299His)" "" "0000888311" "00017742" "30" "800" "0" "800" "0" "c.800T>C" "r.(?)" "p.(Val267Ala)" "" "0000888312" "00017742" "30" "1997" "0" "1997" "0" "c.1997G>A" "r.(?)" "p.(Arg666His)" "" "0000912941" "00017742" "50" "616" "0" "616" "0" "c.616C>G" "r.(?)" "p.(Pro206Ala)" "" "0000922394" "00017742" "70" "340" "0" "340" "0" "c.340G>C" "r.(?)" "p.(Asp114His)" "" "0000922395" "00017742" "70" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(Arg116Cys)" "" "0000922396" "00017742" "70" "461" "0" "461" "0" "c.461G>A" "r.(?)" "p.(Arg154Gln)" "" "0000922397" "00017742" "70" "461" "0" "461" "0" "c.461G>T" "r.(?)" "p.(Arg154Leu)" "" "0000922398" "00017742" "50" "548" "0" "548" "0" "c.548G>T" "r.spl?" "p.(Arg183Met)" "" "0000922399" "00017742" "50" "785" "0" "785" "0" "c.785C>T" "r.(?)" "p.(Pro262Leu)" "" "0000922400" "00017742" "70" "1412" "0" "1412" "0" "c.1412C>T" "r.(?)" "p.(Ala471Val)" "" "0000922401" "00017742" "70" "258" "4" "258" "4" "c.258+4A>C" "r.spl?" "p.?" "" "0000922402" "00017742" "70" "460" "0" "460" "0" "c.460C>T" "r.(?)" "p.(Arg154*)" "" "0000922403" "00017742" "70" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179*)" "" "0000922404" "00017742" "70" "1626" "0" "1626" "0" "c.1626del" "r.(?)" "p.(Ser543Alafs*52)" "" "0000922405" "00017742" "70" "1998" "0" "1998" "0" "c.1998dup" "r.(?)" "p.(Lys667Glnfs*42)" "" "0000922406" "00017742" "70" "2008" "0" "2008" "0" "c.2008C>T" "r.(?)" "p.(Arg670*)" "" "0000922407" "00017742" "70" "2032" "1" "2032" "1" "c.2032+1G>C" "r.spl" "p.?" "" "0000922408" "00017742" "50" "2100" "0" "2100" "0" "c.2100C>G" "r.(?)" "p.(Tyr700*)" "" "0000922409" "00017742" "70" "314" "0" "314" "0" "c.314G>A" "r.(?)" "p.(Trp105*)" "" "0000922410" "00017742" "50" "1568" "-1" "1568" "-1" "c.1568-1G>A" "r.spl?" "p.?" "" "0000978170" "00017742" "50" "773" "0" "773" "0" "c.773C>G" "r.(?)" "p.(Pro258Arg)" "" "0000978171" "00017742" "50" "1028" "0" "1028" "0" "c.1028G>T" "r.(?)" "p.(Gly343Val)" "" "0000978172" "00017742" "50" "1154" "0" "1154" "0" "c.1154G>A" "r.(?)" "p.(Arg385His)" "" "0000978173" "00017742" "90" "1519" "0" "1519" "0" "c.1519C>T" "r.(?)" "p.(Arg507Cys)" "" "0000997113" "00017742" "30" "5" "0" "5" "0" "c.5A>C" "r.(?)" "p.(Gln2Pro)" "" "0000997114" "00017742" "50" "56" "1243" "56" "1243" "c.56+1243G>A" "r.(=)" "p.(=)" "" "0000997115" "00017742" "30" "258" "4" "258" "4" "c.258+4A>C" "r.spl?" "p.?" "" "0000997116" "00017742" "50" "548" "5" "548" "5" "c.548+5G>A" "r.spl?" "p.?" "" "0000997117" "00017742" "50" "1891" "0" "1891" "0" "c.1891G>A" "r.(?)" "p.(Asp631Asn)" "" "0000997118" "00017742" "50" "2105" "0" "2105" "0" "c.2105G>A" "r.(?)" "p.(Arg702Gln)" "" "0000997119" "00017742" "50" "2162" "0" "2162" "0" "c.2162G>A" "r.(?)" "p.(Arg721Gln)" "" "0001014438" "00017742" "50" "1345" "0" "1345" "0" "c.1345C>T" "r.(?)" "p.(Arg449Trp)" "" "0001014439" "00017742" "30" "1875" "0" "1875" "0" "c.1875G>A" "r.(?)" "p.(=)" "" "0001025514" "00017742" "50" "1979" "0" "1979" "0" "c.1979A>G" "r.(?)" "p.(Asn660Ser)" "" "0001036919" "00017742" "50" "1819" "0" "1819" "0" "c.1819C>T" "r.(?)" "p.(His607Tyr)" "" "0001046157" "00017742" "30" "800" "0" "800" "0" "c.800T>C" "r.(?)" "p.(Val267Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 41 "{{screeningid}}" "{{variantid}}" "0000134487" "0000224490" "0000134488" "0000224491" "0000134489" "0000224492" "0000134490" "0000224493" "0000134491" "0000224494" "0000134492" "0000224495" "0000134493" "0000224496" "0000134494" "0000224497" "0000134496" "0000224498" "0000134497" "0000224499" "0000155351" "0000355071" "0000155352" "0000355072" "0000155353" "0000355073" "0000165286" "0000368944" "0000230880" "0000472558" "0000230881" "0000472559" "0000230882" "0000472560" "0000230883" "0000472561" "0000230884" "0000472562" "0000230885" "0000472563" "0000230886" "0000472564" "0000230887" "0000472565" "0000230888" "0000472566" "0000230889" "0000472567" "0000436058" "0000922394" "0000436059" "0000922395" "0000436060" "0000922396" "0000436061" "0000922397" "0000436062" "0000922398" "0000436063" "0000922399" "0000436064" "0000922400" "0000436065" "0000922401" "0000436066" "0000922402" "0000436067" "0000922403" "0000436069" "0000922404" "0000436070" "0000922405" "0000436071" "0000922406" "0000436072" "0000922407" "0000436073" "0000922408" "0000436074" "0000922409" "0000436074" "0000922410"