### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RAB39B) # 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}}" "RAB39B" "RAB39B, member RAS oncogene family" "X" "q28" "unknown" "NG_012626.2" "UD_132118319397" "" "https://www.LOVD.nl/RAB39B" "" "1" "16499" "116442" "300774" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/RAB39B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-03-06 00:00:00" "00006" "2017-04-21 16:06:21" "00000" "2025-11-01 13:22:20" ## 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}}" "00017327" "RAB39B" "RAB39B, member RAS oncogene family" "001" "NM_171998.2" "" "NP_741995.1" "" "" "" "-279" "3204" "642" "154493852" "154487526" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{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" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00291" "ADHD" "attention deficit-hyperactivity disorder (ADHD)" "AD" "143465" "" "" "" "00006" "2013-12-20 10:47:26" "00006" "2021-12-10 21:51:32" "00515" "NF" "neurofibromatosis" "" "" "" "" "" "00006" "2014-08-22 11:35:21" "00006" "2025-01-25 16:37:03" "01131" "MRX72" "mental retardation, X-linked, type 72 (MRX72)" "XLR" "300271" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04637" "WSMN" "Waisman syndrome (WSMN)" "XLR" "311510" "" "" "" "00000" "2015-09-23 10:25:23" "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" "05613" "PARK" "Parkinson disease (PARK)" "" "" "" "" "" "00006" "2019-06-19 16:46:42" "00006" "2019-06-19 16:46:58" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "RAB39B" "00139" "RAB39B" "01131" "RAB39B" "04637" ## Individuals ## Do not remove or alter this header ## ## Count = 38 "{{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}}" "00050693" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00103863" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377225-Pat?" "00103864" "" "" "" "6" "" "00006" "{PMID:Giannandrea 2010:20159109}, {DOI:Giannandrea 2010:10.1016/j.ajhg.2010.01.011}" "3-generation family, 6 affecteds (four brothers and two maternal uncles), unaffected carrier females" "M" "no" "" "" "0" "" "" "" "20159109-FamXPatII3" "00103865" "" "" "00103864" "1" "" "00006" "{PMID:Giannandrea 2010:20159109}, {DOI:Giannandrea 2010:10.1016/j.ajhg.2010.01.011}" "brother of PatII4" "M" "no" "" "" "0" "" "" "" "20159109-FamXPatII4" "00103866" "" "" "00103864" "1" "" "00006" "{PMID:Giannandrea 2010:20159109}, {DOI:Giannandrea 2010:10.1016/j.ajhg.2010.01.011}" "nephew of PatII4" "M" "no" "" "" "0" "" "" "" "20159109-FamXPatII1" "00103867" "" "" "00103864" "1" "" "00006" "{PMID:Giannandrea 2010:20159109}, {DOI:Giannandrea 2010:10.1016/j.ajhg.2010.01.011}" "nephew of PatII4, brother of PatIII1" "M" "no" "" "" "0" "" "" "" "20159109-FamXPatII2" "00103868" "" "" "00103864" "1" "" "00006" "{PMID:Giannandrea 2010:20159109}, {DOI:Giannandrea 2010:10.1016/j.ajhg.2010.01.011}" "nephew of PatII4, brother of PatIII1" "M" "no" "" "" "0" "" "" "" "20159109-FamXPatII3" "00103869" "" "" "00103864" "1" "" "00006" "{PMID:Giannandrea 2010:20159109}, {DOI:Giannandrea 2010:10.1016/j.ajhg.2010.01.011}" "nephew of PatII4, brother of PatIII1, twin of PatIII3" "M" "no" "" "" "0" "" "" "" "20159109-FamXPatII4" "00103870" "" "" "" "8" "" "00006" "{PMID:Giannandrea 2010:20159109}, {DOI:Giannandrea 2010:10.1016/j.ajhg.2010.01.011}" "4-generation family, 8 affecteds" "M" "no" "Italy" "" "0" "" "" "" "20159109-FamMRX72PatIII9" "00103871" "" "" "00103870" "1" "" "00006" "{PMID:Giannandrea 2010:20159109}, {DOI:Giannandrea 2010:10.1016/j.ajhg.2010.01.011}" "nephew of PatII4, brother of PatIII1" "M" "no" "Italy" "" "0" "" "" "" "20159109-FamMRX72PatIII4" "00103872" "" "" "00103870" "1" "" "00006" "{PMID:Giannandrea 2010:20159109}, {DOI:Giannandrea 2010:10.1016/j.ajhg.2010.01.011}" "nephew of PatII4, brother of PatIII1" "M" "no" "Italy" "" "0" "" "" "" "20159109-FamMRX72PatIII5" "00103873" "" "" "00103870" "1" "" "00006" "{PMID:Giannandrea 2010:20159109}, {DOI:Giannandrea 2010:10.1016/j.ajhg.2010.01.011}" "nephew of PatII4, brother of PatIII1, twin of PatIII3" "M" "no" "Italy" "" "0" "" "" "" "20159109-FamMRX72PatIV5" "00103874" "" "" "" "2" "" "00006" "{PMID:Giannandrea 2010:20159109}, {DOI:Giannandrea 2010:10.1016/j.ajhg.2010.01.011}" "526 unmapped X-linked patients seizures and autism spectrum disorder." "" "" "Italy" "" "0" "" "" "" "20159109-Pats" "00183162" "" "" "" "2" "" "00006" "{PMID:Hu 2016:25644381}" "family, 2 affected, 1 unaffected heterozygous carrier female" "M" "" "" "" "0" "" "" "" "25644381-FamN188" "00208626" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00208796" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00286192" "" "" "" "3" "" "00006" "{PMID:Wilsoni 2014:25434005}" "2-generation family, 3 affected brothers, unaffected heterozygous carrier mother" "M" "" "Australia" "" "0" "" "" "" "FamAusPatII3" "00286193" "" "" "00286192" "1" "" "00006" "{PMID:Wilsoni 2014:25434005}" "PatII2" "M" "" "Australia" "" "0" "" "" "" "FamAusPatII2" "00286194" "" "" "00286192" "1" "" "00006" "{PMID:Wilsoni 2014:25434005}" "PatII1" "M" "" "Australia" "" "0" "" "" "" "FamAusPatII1" "00286195" "" "" "" "7" "" "00006" "{PMID:Wilsoni 2014:25434005}" "3-generation family, 7 affected (7M), 2 unaffected heterozygous carrier mothers" "M" "" "United States" "" "0" "" "" "" "FamWis" "00286197" "" "" "" "7" "" "00006" "{PMID:Mata 2016:26399558}" "4-generation family, 7 affected (2F, 5M), unaffected heterozygous carrier parents; 5 affected males, 1 unaffected carrier male (41y)" "M" "no" "United States" "" "0" "" "" "Europe" "Family" "00286198" "" "" "00286197" "2" "" "00006" "{PMID:Mata 2016:26399558}" "2 affected/3 unaffected heterozygous carrier females" "F" "no" "United States" "" "0" "" "" "Europe" "Family" "00286199" "" "" "" "1" "" "00006" "{PMID:Mata 2016:26399558}" "family from PaGeR cohorts, affected female (affected father not analysed" "F" "" "United States" "" "0" "" "" "" "Fam" "00286200" "" "" "" "1" "" "00006" "{PMID:Mata 2016:26399558}" "family from PaGeR cohorts, affected female (affected father not analysed" "F" "" "United States" "" "0" "" "" "" "Fam" "00294997" "" "" "" "79" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294998" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00302607" "" "" "" "1" "" "01797" "{PMID:Gao 2020:31951675}" "3-generation family, 7 affected males, 2 unaffected carrier females" "M" "no" "Australia" "" "0" "" "" "" "FamPatIV12" "00305285" "" "" "" "88" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305286" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00317978" "" "" "" "2" "" "03580" "{PMID:Santoro 2020:32873259}" "3-generation family, 2 affected (ID), 3 unaffected carrier females" "M" "no" "Italy" "" "0" "" "" "" "FamPatIII1" "00318043" "" "" "00317978" "1" "" "00006" "{PMID:Santoro 2020:32873259}" "uncle" "M" "" "Italy" "" "0" "" "" "" "FamPatII4" "00319851" "" "" "" "1" "" "01797" "{PMID:Gao 2020:32670181}" "" "M" "" "Australia" "" "0" "" "" "" "" "00319852" "" "" "" "1" "" "01797" "{PMID:Gao 2020:32670181}" "" "M" "" "Australia" "" "0" "" "" "" "" "00319853" "" "" "" "1" "" "01797" "{PMID:Gao 2020:32670181}" "" "M" "" "Australia" "" "0" "" "" "" "" "00324410" "" "" "" "1" "" "00006" "{PMID:Vissers 2010:21076407}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "(Netherlands)" "" "0" "" "" "" "MRtrio2" "00449801" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00458047" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00460887" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 38 "{{individualid}}" "{{diseaseid}}" "00050693" "00198" "00103863" "00187" "00103864" "00187" "00103865" "00187" "00103866" "00187" "00103867" "00187" "00103868" "00187" "00103869" "00187" "00103870" "00187" "00103871" "00187" "00103872" "00187" "00103873" "00187" "00103874" "00198" "00183162" "00187" "00286192" "05613" "00286193" "05613" "00286194" "05613" "00286195" "05613" "00286197" "05613" "00286198" "05613" "00286199" "05613" "00286200" "05613" "00294997" "00198" "00294998" "00198" "00302607" "00198" "00305285" "00198" "00305286" "00198" "00317978" "00198" "00317978" "00515" "00317978" "01131" "00318043" "00139" "00319851" "05613" "00319852" "05613" "00319853" "05613" "00324410" "00139" "00449801" "00291" "00458047" "05611" "00460887" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 00291, 00515, 01131, 04637, 05611, 05613 ## Count = 34 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037305" "00198" "00050693" "00006" "Isolated (sporadic)" "" "drooling, unsteady gait, abnormal facial shape, lactose intolerance" "" "" "" "" "" "" "" "" "" "" "" "" "0000081781" "00187" "00103863" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081782" "00187" "00103864" "00006" "Familial, X-linked recessive" "52y" "mild intellectual disability, height 163cm\r\n(<3rd percentile), 59cm (above 97th percentile)" "" "" "" "" "" "" "" "" "" "" "" "" "0000081783" "00187" "00103865" "00006" "Familial, X-linked" "50y" "severe ID, height 170cm (3rd percentile), OFC 62.5cm (above 97th percentile)" "" "" "" "" "" "" "" "" "" "" "" "" "0000081784" "00187" "00103866" "00006" "Familial, X-linked recessive" "19y" "moderate intellectual disability, height 178.5cm (50th percentile), 60.6cm (above 97th percentile), obesity" "" "" "" "" "" "" "" "" "" "" "" "" "0000081785" "00187" "00103867" "00006" "Familial, X-linked recessive" "16y" "moderate intellectual disability, height 177.5cm (50th percentile), 56.5.6cm (above 97th percentile)" "" "" "" "" "" "" "" "" "" "" "" "" "0000081786" "00187" "00103868" "00006" "Familial, X-linked recessive" "13y" "moderate intellectual disability, height 145.5cm (3rd percentile), 57cm (above 97th percentile), autism" "" "" "" "" "" "" "" "" "" "" "" "" "0000081787" "00187" "00103869" "00006" "Familial, X-linked" "13y" "severe intellectual disability, height 145.7cm (3rd percentile), 56.5cm (above 97th percentile), autism" "" "" "" "" "" "" "" "" "" "" "" "" "0000081788" "00187" "00103870" "00006" "Familial, X-linked recessive" "" "moderate/severe intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000081789" "00187" "00103871" "00006" "Familial, X-linked recessive" "" "moderate/severe intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000081790" "00187" "00103872" "00006" "Familial, X-linked recessive" "" "moderate/severe intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000081791" "00187" "00103873" "00006" "Familial, X-linked recessive" "" "moderate/severe intellectual disability, autism spectrum disorder" "" "" "" "" "" "" "" "" "" "" "" "" "0000081792" "00198" "00103874" "00006" "Familial, X-linked" "" "autism spectrum disorder" "" "" "" "" "" "" "" "" "" "" "" "" "0000143916" "00187" "00183162" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000157249" "00198" "00208626" "01164" "Unknown" "" "HP:0001249 (Intellectual disability)" "" "" "" "" "" "" "" "" "" "" "" "" "0000157409" "00198" "00208796" "01164" "Unknown" "" "HP:0001249 (Intellectual disability); HP:0100022 (Abnormality of movement); HP:0002086 (Abnormality of the respiratory system); HP:0001337 (Tremor); HP:0004373 (Focal dystonia); HP:0007351 (Upper limb postural tremor); HP:0012638 (Abnormality of nervous system physiology); HP:0005957 (Breathing dysregulation)" "" "" "" "" "" "" "" "" "" "" "" "" "0000220048" "05613" "00286192" "00006" "Familial, X-linked recessive" "" "normal pregnancy/birth; delayed early motor milestones; delayed speech initiation; early learning difficulties; intellectual disability; not able to read, able to write; no independent living; obsessional behavior; ritualistic behavior; tremor onset late childhood; postural/upper limb tremor; no choreoathetosis; no shuffling gait; no bradykinesia; no dyskinesia; no cogwheel rigidity; no hyopkinetic dysarthria; normal cerebellar function; no autism; no seizures; macrocephaly; no frontal bossing; normal eye examination; no strabismus; no iris coloboma; no hydrops; no dysmorphism; no high arched palate; no dementia; no skin depigmented papules; normal copper testing; normal blood count and chemistry; normal urine metabolic testing" "" "" "" "" "" "" "" "" "" "WSMN" "Parkinson disease" "" "0000220049" "05613" "00286193" "00006" "Familial, X-linked recessive" "" "normal pregnancy/birth; no delayed early motor milestones; delayed speech initiation; early learning difficulties; intellectual disability; able to read, able to write; no independent living; no obsessional behavior; no ritualistic behavior; 38y-tremor onset; 44y-parkinsonism diagnosis; akinetic‐rigid Parkinsonism; postural/upper limb tremor; no choreoathetosis; shuffling gait; bradykinesia; dyskinesia; cogwheel rigidity; L‐dopa response; hyopkinetic dysarthria; normal cerebellar function; no autism; no seizures; macrocephaly; no frontal bossing; normal eye examination; no strabismus; no iris coloboma; no hydrops; no dysmorphism; no high arched palate; no dementia; no skin depigmented papules; MRI normal; normal copper testing; normal blood count and chemistry; normal urine metabolic testing" "" "" "" "" "" "" "" "" "" "WSMN" "Parkinson disease" "" "0000220050" "05613" "00286194" "00006" "Familial, X-linked recessive" "" "normal pregnancy/birth; no delayed early motor milestones; delayed speech initiation; early learning difficulties; intellectual disability; able to read, able to write; no independent living; no obsessional behavior; no ritualistic behavior; 44y-tremor onset; 45y-parkinsonism diagnosis; akinetic‐rigid Parkinsonism; postural/upper limb tremor; no choreoathetosis; shuffling gait; bradykinesia; dyskinesia; cogwheel rigidity; L‐dopa response (with side effects); hyopkinetic dysarthria; normal cerebellar function; no autism; no seizures; macrocephaly; no frontal bossing; normal eye examination; no strabismus; no iris coloboma; no hydrops; no dysmorphism; no high arched palate; dementia; no skin depigmented papules; MRI T2 weighted slight bilateral reduction signal intensity substantia nigra and globus pallidus; normal copper testing; normal blood count and chemistry; normal urine metabolic testing" "" "" "" "" "" "" "" "" "" "WSMN" "Parkinson disease" "" "0000220051" "05613" "00286195" "00006" "Familial, X-linked recessive" "" "normal pregnancy/birth; delayed early motor milestones; delayed speech initiation; early learning difficulties; intellectual disability; able to read, able to write; independent living; hyperactive/disruptive behaviour (1/6); 10‐20s tremor onset; 20s-parkinsonism diagnosis; postural/upper limb tremor (4/6); choreoathetosis (1/6); shuffling gait (5/6); bradykinesia; cogwheel rigidity; no L‐dopa response (3/3); hyopkinetic dysarthria; normal cerebellar function; seizures (2/6); macrocephaly; frontal bossing; normal eye examination (4/6); strabismus (1/6); iris coloboma (1/6); hydrops (1/6); high arched palate (5/6); skin depigmented papules 4/6; CT-scan megalencephaly; EEG abnormal (2/6); normal copper testing; normal blood count and chemistry; normal urine metabolic testing" "" "" "" "" "" "" "" "" "" "WSMN" "Parkinson disease" "" "0000220054" "05613" "00286197" "00006" "Familial, X-linked recessive" "50y-61y" "see paper; ..., bradykinesia, rigidity, resting tremor, postural instability, unilateral onset, Levodopa response(4/4), Levodopa-induced dyskinesia (3/4), mild intellectual disability (2/5)" "29y-53y" "" "" "" "" "" "" "" "" "WSMN" "Parkinson disease" "" "0000220055" "05613" "00286198" "00006" "Familial, X-linked dominant" "62y-64y" "see paper; ..., bradykinesia, rigidity, resting tremor (1/2), postural instability (1/2), unilateral onset, Levodopa response, Levodopa-induced dyskinesia (1/2), no mild intellectual disability" "55y-57y" "" "" "" "" "" "" "" "" "WSMN" "Parkinson disease" "" "0000220056" "05613" "00286199" "00006" "Unknown" "53y" "" "47y" "" "" "" "" "" "" "" "" "" "Parkinson disease" "" "0000220057" "05613" "00286200" "00006" "Unknown" "74y" "" "67y" "" "" "" "" "" "" "" "" "" "Parkinson disease" "" "0000229688" "00198" "00302607" "01797" "Familial, X-linked recessive" "" "see paper; ..., megalocephaly, nonprogressive intellectual disability, early‐onset parkinsonism; 2y-motor seizures; 9y-very inadequate hand and eye coordination, elective mutism, megalocephaly, IQ 69; ..." "31y" "" "" "" "" "" "" "" "" "" "" "" "0000241762" "01131" "00317978" "03580" "Familial, X-linked recessive" "14y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000241827" "00198" "00317978" "00006" "Unknown" "07y" "multiple café-au-lait macules and freckling, severe macrocephaly, peculiar facial gestalt, severe intellectual disability, absent speech, epilepsy, autistic traits, self-harming, aggressiveness" "" "" "" "" "" "" "" "" "" "" "" "" "0000241828" "00139" "00318043" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "MRX72" "intellectual disability" "" "0000241955" "05613" "00319851" "01797" "Unknown" "" "" "50y" "" "" "" "" "" "" "" "" "" "early onset Parkinson disease" "" "0000241956" "05613" "00319852" "01797" "Unknown" "" "" "48y" "" "" "" "" "" "" "" "" "" "early onset Parkinson disease" "" "0000241957" "05613" "00319853" "01797" "Unknown" "" "" "49y" "" "" "" "" "" "" "" "" "" "early onset Parkinson disease" "" "0000242952" "00139" "00324410" "00006" "Isolated (sporadic)" "5y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000338947" "00291" "00449801" "03544" "Isolated (sporadic)" "" "HP:0012758, HP:0001288" "" "" "" "" "" "" "" "" "" "XLID72" "ADHD" "" "0000346495" "05611" "00458047" "03544" "Isolated (sporadic)" "" "HP:0007018, HP:0001263, HP:0001270, HP:0001288, HP:0000729" "" "" "" "" "" "" "" "" "" "XLID72" "complex neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 38 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050638" "00050693" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000104314" "00103863" "1" "00124" "00006" "2009-05-19 12:33:15" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000104315" "00103864" "1" "00006" "00006" "2017-04-21 16:32:19" "" "" "SEQ" "DNA" "" "" "0000104316" "00103865" "1" "00006" "00006" "2017-04-21 16:37:09" "" "" "SEQ" "DNA" "" "" "0000104321" "00103866" "1" "00006" "00006" "2017-04-21 17:07:48" "" "" "SEQ" "DNA" "" "" "0000104322" "00103867" "1" "00006" "00006" "2017-04-21 17:07:48" "" "" "SEQ" "DNA" "" "" "0000104323" "00103868" "1" "00006" "00006" "2017-04-21 17:07:48" "" "" "SEQ" "DNA" "" "" "0000104324" "00103869" "1" "00006" "00006" "2017-04-21 17:07:48" "" "" "SEQ" "DNA" "" "" "0000104325" "00103870" "1" "00006" "00006" "2017-04-21 17:24:50" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000104326" "00103871" "1" "00006" "00006" "2017-04-21 17:24:50" "" "" "SEQ" "DNA" "" "" "0000104327" "00103872" "1" "00006" "00006" "2017-04-21 17:24:50" "" "" "SEQ" "DNA" "" "" "0000104328" "00103873" "1" "00006" "00006" "2017-04-21 17:24:50" "" "" "SEQ" "DNA" "" "" "0000104329" "00103874" "1" "00006" "00006" "2017-04-21 17:28:50" "" "" "SEQ" "DNA" "" "" "0000184120" "00183162" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000209675" "00208626" "1" "01164" "01164" "2018-12-12 12:06:13" "" "" "SEQ-NG" "DNA" "" "" "0000209845" "00208796" "1" "01164" "01164" "2018-12-17 10:13:37" "" "" "SEQ-NG" "DNA" "" "" "0000287353" "00286192" "1" "00006" "00006" "2020-02-10 11:37:22" "" "" "arraySNP" "DNA" "" "" "0000287354" "00286193" "1" "00006" "00006" "2020-02-10 11:37:22" "" "" "arraySNP" "DNA" "" "" "0000287355" "00286194" "1" "00006" "00006" "2020-02-10 11:37:22" "" "" "arraySNP" "DNA" "" "" "0000287356" "00286195" "1" "00006" "00006" "2020-02-10 11:37:22" "" "" "SEQ" "DNA" "" "" "0000287359" "00286197" "1" "00006" "00006" "2020-02-10 12:21:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000287360" "00286198" "1" "00006" "00006" "2020-02-10 12:32:09" "" "" "SEQ" "DNA" "" "" "0000287361" "00286199" "1" "00006" "00006" "2020-02-10 12:40:17" "" "" "SEQ" "DNA" "" "" "0000287362" "00286200" "1" "00006" "00006" "2020-02-10 12:42:19" "" "" "SEQ" "DNA" "" "" "0000296165" "00294997" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296166" "00294998" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000303730" "00302607" "1" "01797" "00006" "2020-05-26 14:48:01" "" "" "SEQ" "DNA" "" "" "0000306414" "00305285" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306415" "00305286" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000319160" "00317978" "1" "03580" "03580" "2020-11-05 11:27:25" "00006" "2020-11-05 19:54:54" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000319225" "00318043" "1" "00006" "00006" "2020-11-05 19:49:30" "" "" "SEQ" "DNA" "" "" "0000321032" "00319851" "1" "01797" "00006" "2020-11-08 10:34:28" "" "" "SEQ" "DNA" "" "" "0000321033" "00319852" "1" "01797" "00006" "2020-11-08 10:34:28" "" "" "SEQ" "DNA" "" "" "0000321034" "00319853" "1" "01797" "00006" "2020-11-08 10:34:28" "" "" "SEQ" "DNA" "" "" "0000325600" "00324410" "1" "00006" "00006" "2020-12-11 17:27:18" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000451396" "00449801" "1" "03544" "03544" "2024-05-15 11:15:33" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000459665" "00458047" "1" "03544" "03544" "2024-11-26 13:46:57" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000462519" "00460887" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 28 "{{screeningid}}" "{{geneid}}" "0000104314" "RAB39B" "0000104315" "RAB39B" "0000104316" "RAB39B" "0000104321" "RAB39B" "0000104322" "RAB39B" "0000104323" "RAB39B" "0000104324" "RAB39B" "0000104325" "RAB39B" "0000104326" "RAB39B" "0000104327" "RAB39B" "0000104328" "RAB39B" "0000104329" "RAB39B" "0000184120" "RAB39B" "0000287353" "RAB39B" "0000287354" "RAB39B" "0000287355" "RAB39B" "0000287356" "RAB39B" "0000287359" "RAB39B" "0000287360" "RAB39B" "0000287361" "RAB39B" "0000287362" "RAB39B" "0000303730" "RAB39B" "0000319225" "RAB39B" "0000321032" "RAB39B" "0000321033" "RAB39B" "0000321034" "RAB39B" "0000325600" "RAB39B" "0000462519" "RAB39B" ## 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 = 45 "{{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}}" "0000079618" "21" "90" "X" "153565841" "154722429" "dup" "0" "00006" "DKC1_000000" "g.153565841_154722429dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "Germline" "" "" "0" "" "" "g.154337626_155494214dup" "" "pathogenic" "" "0000168994" "1" "30" "X" "154490187" "154490187" "subst" "0.00024613" "00124" "RAB39B_000001" "g.154490187T>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.155260902T>C" "" "likely benign" "" "0000168995" "20" "90" "X" "154493553" "154493553" "subst" "0" "00006" "RAB39B_000002" "g.154493553G>T" "" "{PMID:Giannandrea 2010:20159109}, {DOI:Giannandrea 2010:10.1016/j.ajhg.2010.01.011}" "" "" "" "Germline" "yes" "rs267606995" "0" "" "" "g.155264268G>T" "" "pathogenic" "" "0000168996" "20" "90" "X" "154493553" "154493553" "subst" "0" "00006" "RAB39B_000002" "g.154493553G>T" "" "{PMID:Giannandrea 2010:20159109}, {DOI:Giannandrea 2010:10.1016/j.ajhg.2010.01.011}, {OMIM300774:0002}" "" "" "" "Germline" "yes" "rs267606995" "0" "" "" "g.155264268G>T" "" "pathogenic" "" "0000169001" "20" "90" "X" "154493553" "154493553" "subst" "0" "00006" "RAB39B_000002" "g.154493553G>T" "" "{PMID:Giannandrea 2010:20159109}, {DOI:Giannandrea 2010:10.1016/j.ajhg.2010.01.011}, {OMIM300774:0002}" "" "" "" "Germline" "yes" "rs267606995" "0" "" "" "g.155264268G>T" "" "pathogenic" "" "0000169002" "20" "90" "X" "154493553" "154493553" "subst" "0" "00006" "RAB39B_000002" "g.154493553G>T" "" "{PMID:Giannandrea 2010:20159109}, {DOI:Giannandrea 2010:10.1016/j.ajhg.2010.01.011}, {OMIM300774:0002}" "" "" "" "Germline" "yes" "rs267606995" "0" "" "" "g.155264268G>T" "" "pathogenic" "" "0000169003" "20" "90" "X" "154493553" "154493553" "subst" "0" "00006" "RAB39B_000002" "g.154493553G>T" "" "{PMID:Giannandrea 2010:20159109}, {DOI:Giannandrea 2010:10.1016/j.ajhg.2010.01.011}, {OMIM300774:0002}" "" "" "" "Germline" "yes" "rs267606995" "0" "" "" "g.155264268G>T" "" "pathogenic" "" "0000169004" "20" "90" "X" "154493553" "154493553" "subst" "0" "00006" "RAB39B_000002" "g.154493553G>T" "" "{PMID:Giannandrea 2010:20159109}, {DOI:Giannandrea 2010:10.1016/j.ajhg.2010.01.011}, {OMIM300774:0002}" "" "" "" "Germline" "yes" "rs267606995" "0" "" "" "g.155264268G>T" "" "pathogenic" "" "0000169005" "20" "90" "X" "154493358" "154493358" "subst" "0" "00006" "RAB39B_000003" "g.154493358C>T" "" "{PMID:Giannandrea 2010:20159109}, {DOI:Giannandrea 2010:10.1016/j.ajhg.2010.01.011}, {OMIM300774:0001}" "" "" "" "Germline" "yes" "rs587776734" "0" "" "" "g.155264073C>T" "" "pathogenic" "" "0000169006" "20" "90" "X" "154493358" "154493358" "subst" "0" "00006" "RAB39B_000003" "g.154493358C>T" "" "{PMID:Giannandrea 2010:20159109}, {DOI:Giannandrea 2010:10.1016/j.ajhg.2010.01.011}, {OMIM300774:0001}" "" "" "" "Germline" "yes" "rs587776734" "0" "" "" "g.155264073C>T" "" "pathogenic" "" "0000169007" "20" "90" "X" "154493358" "154493358" "subst" "0" "00006" "RAB39B_000003" "g.154493358C>T" "" "{PMID:Giannandrea 2010:20159109}, {DOI:Giannandrea 2010:10.1016/j.ajhg.2010.01.011}, {OMIM300774:0001}" "" "" "" "Germline" "yes" "rs587776734" "0" "" "" "g.155264073C>T" "" "pathogenic" "" "0000169008" "20" "90" "X" "154493358" "154493358" "subst" "0" "00006" "RAB39B_000003" "g.154493358C>T" "" "{PMID:Giannandrea 2010:20159109}, {DOI:Giannandrea 2010:10.1016/j.ajhg.2010.01.011}, {OMIM300774:0001}" "" "" "" "Germline" "yes" "rs587776734" "0" "" "" "g.155264073C>T" "" "pathogenic" "" "0000169009" "0" "30" "X" "154490187" "154490187" "subst" "0.00024613" "00006" "RAB39B_000001" "g.154490187T>C" "2/526 cases" "{PMID:Giannandrea 2010:20159109}, {DOI:Giannandrea 2010:10.1016/j.ajhg.2010.01.011}" "" "822A>G (T181T)" "" "Germline" "" "" "0" "" "" "g.155260902T>C" "" "likely benign" "" "0000297526" "0" "30" "X" "154490187" "154490187" "subst" "0.00024613" "02325" "RAB39B_000001" "g.154490187T>C" "" "" "" "RAB39B(NM_171998.4):c.543A>G (p.T181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155260902T>C" "" "likely benign" "" "0000346358" "0" "50" "X" "154490402" "154490402" "subst" "0" "02327" "RAB39B_000004" "g.154490402G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155261117G>T" "" "VUS" "" "0000408089" "21" "90" "X" "154490364" "154490364" "dup" "0" "00006" "RAB39B_000005" "g.154490364dup" "" "{PMID:Hu 2016:25644381}" "" "RAB39B insA H123Sfs*4" "" "Germline" "yes" "" "0" "" "" "g.155261079dup" "" "pathogenic" "" "0000439890" "3" "50" "X" "154490476" "154490476" "subst" "0" "01164" "RAB39B_000006" "g.154490476C>T" "" "" "" "" "ACMG grading: PM2,PP3" "Germline" "" "" "0" "" "" "g.155261191C>T" "" "VUS" "ACMG" "0000440073" "3" "90" "X" "154493358" "154493358" "subst" "0" "01164" "RAB39B_000003" "g.154493358C>T" "" "" "" "" "ACMG grading: PS3,PP1,PVS1; hemizygous; reported in Giannandrea 2010. Am J Hum Genet 86: 185" "Germline" "" "" "0" "" "" "g.155264073C>T" "" "pathogenic" "ACMG" "0000575044" "0" "50" "X" "154493386" "154493386" "subst" "0" "02327" "RAB39B_000008" "g.154493386C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155264101C>G" "" "VUS" "" "0000643131" "20" "50" "X" "154489749" "154489749" "subst" "0" "01797" "RAB39B_000017" "g.154489749A>G" "" "{PMID:Gao 2020:32670181}" "" "" "" "Germline/De novo (untested)" "" "rs781919581" "0" "" "" "" "" "VUS" "" "0000643132" "20" "50" "X" "154489197" "154489197" "subst" "0" "01797" "RAB39B_000018" "g.154489197T>G" "" "{PMID:Gao 2020:32670181}" "" "" "" "Germline/De novo (untested)" "" "rs143765586" "0" "" "" "" "" "VUS" "" "0000643133" "20" "50" "X" "154493802" "154493802" "subst" "0" "01797" "RAB39B_000009" "g.154493802C>T" "" "{PMID:Gao 2020:32670181}" "" "" "" "Unknown" "" "" "0" "" "" "g.155264517C>T" "" "VUS" "" "0000643144" "21" "90" "X" "154487526" "154509358" "del" "0" "00006" "RAB39B_000010" "g.(?_154487526)_(154509358_154528097)del" "" "{PMID:Wilsoni 2014:25434005}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(?_155258241)_(155280069_155298784)del" "" "pathogenic (recessive)" "" "0000643145" "21" "90" "X" "154487526" "154509358" "del" "0" "00006" "RAB39B_000010" "g.(?_154487526)_(154509358_154528097)del" "" "{PMID:Wilsoni 2014:25434005}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(?_155258241)_(155280069_155298784)del" "" "pathogenic (recessive)" "" "0000643146" "21" "90" "X" "154487526" "154509358" "del" "0" "00006" "RAB39B_000010" "g.(?_154487526)_(154509358_154528097)del" "" "{PMID:Wilsoni 2014:25434005}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(?_155258241)_(155280069_155298784)del" "" "pathogenic (recessive)" "" "0000643147" "21" "90" "X" "154490227" "154490227" "subst" "0" "00006" "RAB39B_000014" "g.154490227G>T" "" "{PMID:Wilsoni 2014:25434005}" "" "" "" "Germline" "yes" "" "0" "" "" "g.155260942G>T" "" "pathogenic (recessive)" "" "0000643152" "21" "90" "X" "154490156" "154490156" "subst" "0" "00006" "RAB39B_000011" "g.154490156C>T" "" "{PMID:Mata 2016:26399558}" "" "" "" "Germline" "yes" "" "0" "" "" "g.155260871C>T" "" "pathogenic (recessive)" "" "0000643155" "1" "90" "X" "154490156" "154490156" "subst" "0" "00006" "RAB39B_000011" "g.154490156C>T" "" "{PMID:Mata 2016:26399558}" "" "" "incomplete penetrance (2/5 heterozygous femle carriers affected)" "Germline" "" "" "0" "" "" "g.155260871C>T" "" "pathogenic (!)" "" "0000643156" "0" "70" "X" "154490302" "154490302" "subst" "0" "00006" "RAB39B_000012" "g.154490302G>C" "" "{PMID:Mata 2016:26399558}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155261017G>C" "" "likely pathogenic" "" "0000643157" "0" "70" "X" "154490104" "154490106" "del" "0" "00006" "RAB39B_000013" "g.154490104_154490106del" "" "{PMID:Mata 2016:26399558}" "" "624_626delGAG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.155260819_155260821del" "" "likely pathogenic" "" "0000652854" "1" "10" "X" "154488741" "154488741" "subst" "0" "03575" "RAB39B_000015" "g.154488741G>A" "79/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "79 heterozygous; {DB:CLININrs17052027}" "Germline" "" "rs17052027" "0" "" "" "g.155259456G>A" "" "benign" "" "0000652855" "1" "90" "X" "154490156" "154490156" "subst" "0" "03575" "RAB39B_000011" "g.154490156C>T" "10/2674 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 heterozygous; {DB:CLININrs864309527}" "Germline" "" "rs864309527" "0" "" "" "g.155260871C>T" "" "pathogenic" "" "0000667116" "21" "90" "X" "154490227" "154490227" "subst" "0" "01797" "RAB39B_000014" "g.154490227G>T" "" "{PMID:Gao 2020:31951675}" "" "" "" "Germline" "yes" "" "0" "" "" "g.155260942G>T" "" "pathogenic (recessive)" "" "0000670102" "0" "10" "X" "154488741" "154488741" "subst" "0" "03575" "RAB39B_000015" "g.154488741G>A" "88/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "88 homozygous; {DB:CLININrs17052027}" "Germline" "" "rs17052027" "0" "" "" "g.155259456G>A" "" "benign" "" "0000670103" "0" "90" "X" "154490156" "154490156" "subst" "0" "03575" "RAB39B_000011" "g.154490156C>T" "1/2674 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs864309527}" "Germline" "" "rs864309527" "0" "" "" "g.155260871C>T" "" "pathogenic" "" "0000682297" "0" "30" "X" "154490187" "154490187" "subst" "0.00024613" "02326" "RAB39B_000001" "g.154490187T>C" "" "" "" "RAB39B(NM_171998.4):c.543A>G (p.T181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000701812" "21" "90" "X" "154490283" "154490294" "del" "0" "03580" "RAB39B_000016" "g.154490283_154490294del" "" "{PMID:Santoro 2020:32873259}" "" "" "" "Germline" "yes" "" "0" "" "" "g.155260998_155261009del" "" "pathogenic (recessive)" "" "0000701890" "21" "90" "X" "154490283" "154490294" "del" "0" "00006" "RAB39B_000016" "g.154490283_154490294del" "" "{PMID:Santoro 2020:32873259}" "" "" "" "Germline" "yes" "" "0" "" "" "g.155260998_155261009del" "" "pathogenic (recessive)" "" "0000708723" "0" "90" "X" "154490173" "154490173" "subst" "0" "00006" "RAB39B_000019" "g.154490173C>T" "" "{PMID:Vissers 2010:21076407}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000728704" "0" "90" "X" "154490200" "154490200" "dup" "0" "02329" "RAB39B_000007" "g.154490200dup" "" "" "" "RAB39B(NM_171998.4):c.535dupG (p.E179Gfs*49)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000985267" "0" "70" "X" "154490304" "154490306" "del" "0" "03544" "RAB39B_000020" "g.154490304_154490306del" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.155261019_155261021del" "" "likely pathogenic (!)" "ACMG" "0001017757" "20" "70" "X" "154490304" "154490306" "del" "0" "03544" "RAB39B_000020" "g.154490304_154490306del" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.155261019_155261021del" "{CV:3381756}" "likely pathogenic" "ACMG" "0001022046" "0" "70" "X" "154493359" "154493359" "subst" "0" "04796" "RAB39B_000021" "g.154493359C>A" "" "" "" "" "effect on RNA exclusion of exon" "Germline/De novo (untested)" "" "" "0" "" "" "g.155264074C>A" "" "likely pathogenic" "" "0001027471" "0" "50" "X" "154493359" "154493359" "subst" "0" "01943" "RAB39B_000021" "g.154493359C>A" "" "" "" "RAB39B(NM_171998.3):c.215G>T (p.R72I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057458" "0" "30" "X" "154490185" "154490185" "subst" "0" "01804" "RAB39B_000022" "g.154490185A>G" "" "" "" "RAB39B(NM_171998.4):c.545T>C (p.(Ile182Thr))" "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 RAB39B ## Count = 45 "{{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}}" "0000079618" "00017327" "00" "-228856" "0" "924889" "0" "c.-228856_*924247dup" "" "" "" "0000168994" "00017327" "30" "543" "0" "543" "0" "c.543A>G" "r.(?)" "p.(Thr181=)" "2" "0000168995" "00017327" "90" "21" "0" "21" "0" "c.21C>A" "r.(?)" "p.(Tyr7*)" "1" "0000168996" "00017327" "90" "21" "0" "21" "0" "c.21C>A" "r.(?)" "p.(Tyr7*)" "1" "0000169001" "00017327" "90" "21" "0" "21" "0" "c.21C>A" "r.(?)" "p.(Tyr7*)" "1" "0000169002" "00017327" "90" "21" "0" "21" "0" "c.21C>A" "r.(?)" "p.(Tyr7*)" "1" "0000169003" "00017327" "90" "21" "0" "21" "0" "c.21C>A" "r.(?)" "p.(Tyr7*)" "1" "0000169004" "00017327" "90" "21" "0" "21" "0" "c.21C>A" "r.(?)" "p.(Tyr7*)" "1" "0000169005" "00017327" "90" "215" "1" "215" "1" "c.215+1G>A" "r.-234_215del" "p.?" "1i" "0000169006" "00017327" "90" "215" "1" "215" "1" "c.215+1G>A" "r.spl" "p.?" "1i" "0000169007" "00017327" "90" "215" "1" "215" "1" "c.215+1G>A" "r.spl" "p.?" "1i" "0000169008" "00017327" "90" "215" "1" "215" "1" "c.215+1G>A" "r.spl" "p.?" "1i" "0000169009" "00017327" "30" "543" "0" "543" "0" "c.543A>G" "r.(=)" "p.(Thr181=)" "2" "0000297526" "00017327" "30" "543" "0" "543" "0" "c.543A>G" "r.(?)" "p.(Thr181=)" "" "0000346358" "00017327" "50" "328" "0" "328" "0" "c.328C>A" "r.(?)" "p.(His110Asn)" "" "0000408089" "00017327" "00" "366" "0" "366" "0" "c.366dup" "r.(?)" "p.(His123Serfs*4)" "" "0000439890" "00017327" "50" "254" "0" "254" "0" "c.254G>A" "r.(?)" "p.(Gly85Asp)" "" "0000440073" "00017327" "90" "215" "1" "215" "1" "c.215+1G>A" "r.(?)" "p.?" "" "0000575044" "00017327" "50" "188" "0" "188" "0" "c.188G>C" "r.(?)" "p.(Trp63Ser)" "" "0000643131" "00017327" "50" "981" "0" "981" "0" "c.*339T>C" "r.(?)" "p.(=)" "" "0000643132" "00017327" "50" "1533" "0" "1533" "0" "c.*891A>C" "r.(?)" "p.(=)" "" "0000643133" "00017327" "50" "-229" "0" "-229" "0" "c.-229G>A" "r.(?)" "p.(=)" "" "0000643144" "00017327" "90" "0" "0" "0" "0" "c.-279_*2562[0]" "r.0" "p.0" "_1_2_" "0000643145" "00017327" "90" "" "0" "" "0" "c.-279_*2562[0]" "r.0" "p.0" "_1_2_" "0000643146" "00017327" "90" "" "0" "" "0" "c.-279_*2562[0]" "r.0" "p.0" "_1_2_" "0000643147" "00017327" "90" "503" "0" "503" "0" "c.503C>A" "r.(?)" "p.(Thr168Lys)" "" "0000643152" "00017327" "90" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Gly192Arg)" "" "0000643155" "00017327" "90" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Gly192Arg)" "" "0000643156" "00017327" "70" "428" "0" "428" "0" "c.428C>G" "r.(?)" "p.(Ala143Gly)" "" "0000643157" "00017327" "70" "627" "0" "629" "0" "c.627_629del" "r.(?)" "p.(Arg210del)" "" "0000652854" "00017327" "10" "1989" "0" "1989" "0" "c.*1347C>T" "r.(=)" "p.(=)" "" "0000652855" "00017327" "90" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Gly192Arg)" "" "0000667116" "00017327" "90" "503" "0" "503" "0" "c.503C>A" "r.(?)" "p.(Thr168Lys)" "" "0000670102" "00017327" "10" "1989" "0" "1989" "0" "c.*1347C>T" "r.(=)" "p.(=)" "" "0000670103" "00017327" "90" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Gly192Arg)" "" "0000682297" "00017327" "30" "543" "0" "543" "0" "c.543A>G" "r.(?)" "p.(Thr181=)" "" "0000701812" "00017327" "90" "436" "0" "447" "0" "c.436_447del" "r.(?)" "p.(Gly146_Tyr149del)" "2" "0000701890" "00017327" "90" "436" "0" "447" "0" "c.436_447del" "r.(?)" "p.(Gly146_Tyr149del)" "" "0000708723" "00017327" "90" "557" "0" "557" "0" "c.557G>A" "r.(?)" "p.(Trp186*)" "" "0000728704" "00017327" "90" "535" "0" "535" "0" "c.535dup" "r.(?)" "p.(Glu179GlyfsTer49)" "" "0000985267" "00017327" "70" "429" "0" "431" "0" "c.429_431del" "r.(?)" "p.(Ala144del)" "2" "0001017757" "00017327" "70" "429" "0" "431" "0" "c.429_431del" "r.(?)" "p.(Ala144del)" "2" "0001022046" "00017327" "70" "215" "0" "215" "0" "c.215G>T" "r.[106_215del,=]" "p.[Val36IlefsTer18,Arg72Ile]" "1" "0001027471" "00017327" "50" "215" "0" "215" "0" "c.215G>T" "r.(?)" "p.(Arg72Ile)" "" "0001057458" "00017327" "30" "545" "0" "545" "0" "c.545T>C" "r.(?)" "p.(Ile182Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 38 "{{screeningid}}" "{{variantid}}" "0000050638" "0000079618" "0000104314" "0000168994" "0000104315" "0000168995" "0000104316" "0000168996" "0000104321" "0000169001" "0000104322" "0000169002" "0000104323" "0000169003" "0000104324" "0000169004" "0000104325" "0000169005" "0000104326" "0000169006" "0000104327" "0000169007" "0000104328" "0000169008" "0000104329" "0000169009" "0000184120" "0000408089" "0000209675" "0000439890" "0000209845" "0000440073" "0000287353" "0000643144" "0000287354" "0000643145" "0000287355" "0000643146" "0000287356" "0000643147" "0000287359" "0000643152" "0000287360" "0000643155" "0000287361" "0000643156" "0000287362" "0000643157" "0000296165" "0000652854" "0000296166" "0000652855" "0000303730" "0000667116" "0000306414" "0000670102" "0000306415" "0000670103" "0000319160" "0000701812" "0000319225" "0000701890" "0000321032" "0000643133" "0000321033" "0000643131" "0000321034" "0000643132" "0000325600" "0000708723" "0000451396" "0000985267" "0000459665" "0001017757" "0000462519" "0001022046"