### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = STUB1) # 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}}" "STUB1" "STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase" "16" "p13.3" "unknown" "NG_034141.1" "UD_133490802665" "" "https://www.LOVD.nl/STUB1" "" "1" "11427" "10273" "607207" "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/STUB1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-11-16 12:34:08" "00006" "2025-11-13 13:04:16" ## 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}}" "00020509" "STUB1" "STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase" "001" "NM_005861.2" "" "NP_005852.2" "" "" "" "-411" "1191" "912" "730115" "732768" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04079" "SCAR16" "ataxia, spinocerebellar, autosomal recessive, type 16 (SCAR-16)" "AR" "615768" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" "" "06307" "SCA48" "?Spinocerebellar ataxia 48" "AD" "618093" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "STUB1" "04079" "STUB1" "06307" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00206815" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00319861" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00319862" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00334915" "" "" "" "1" "" "03286" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "F" "yes" "Italy" "" "0" "" "" "" "PME4" "00449733" "" "" "" "1" "" "03544" "" "" "M" "?" "- (not applicable)" "" "" "" "" "" "" "00455766" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "F" "" "" "" "0" "" "" "" "Pat6" "00455851" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "M" "" "" "" "0" "" "" "" "Pat91" "00469429" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469430" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469431" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469432" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00206815" "00198" "00319861" "00198" "00319862" "00198" "00334915" "04079" "00449733" "05356" "00455766" "00198" "00455851" "00198" "00469429" "00198" "00469430" "00198" "00469431" "00198" "00469432" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04079, 05356, 06307 ## Count = 12 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000154604" "00198" "00206815" "01807" "Unknown" "" "Cerebellar vermis atrophy (HP:0006855); Slurred speech (HP:0001350); Behavioral abnormality (HP:0000708); Tremor (HP:0001337)" "" "" "" "" "" "" "" "" "" "" "" "0000241965" "00198" "00319861" "01807" "Unknown" "" "Ataxia (HP:0001251)" "" "" "" "" "" "" "" "" "" "" "" "0000241966" "00198" "00319862" "01807" "Unknown" "" "Ataxia (HP:0001251); Cerebellar atrophy (HP:0001272)" "" "" "" "" "" "" "" "" "" "" "" "0000257421" "04079" "00334915" "00006" "Familial, autosomal recessive" "" "Onset 12 years of age with ataxia. Myoclonus and occsional TCS from age 30. Severe action and reflex myoclonus, severe progressive ataxia and slowly progressive dementia. Tetraparesis and bilateral pes cavus noted." "" "" "" "" "" "" "" "" "" "progressive myoclonus epilepsy , dementia" "" "0000338895" "05356" "00449733" "03544" "Familial, autosomal recessive" "" "HP:0007598, HP:0002187, HP:0001518, HP:0001252, HP:0000311, HP:0001257, HP:0100759, HP:0001762, HP:0007371" "" "" "" "" "" "" "" "" "SCAR16" "spinocerebellar ataxia" "" "0000338896" "05356" "00449733" "03544" "Familial, autosomal recessive" "" "HP:0007598, HP:0002187, HP:0001518, HP:0001252, HP:0000311, HP:0001257, HP:0100759, HP:0001762, HP:0007371" "" "" "" "" "" "" "" "" "SCAR16" "profound intellectual disability" "" "0000344299" "00198" "00455766" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "SCA48" "neurogenetic diseases" "" "0000344384" "00198" "00455851" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "SCA48" "neurogenetic diseases" "" "0000354582" "00198" "00469429" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000354583" "00198" "00469430" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000354584" "00198" "00469431" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000354585" "00198" "00469432" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000207849" "00206815" "1" "01807" "01807" "2018-11-14 14:33:24" "" "" "SEQ" "DNA" "" "" "0000321042" "00319861" "1" "01807" "01807" "2020-11-09 14:07:31" "00001" "2020-11-09 14:08:20" "SEQ" "DNA" "" "" "0000321043" "00319862" "1" "01807" "01807" "2020-11-09 14:07:34" "" "" "SEQ" "DNA" "" "" "0000336145" "00334915" "1" "03286" "03286" "2021-03-02 13:13:42" "00006" "2021-04-14 09:22:08" "SEQ;SEQ-NG" "DNA" "WES trio" "" "0000451325" "00449733" "1" "03544" "03544" "2024-05-07 13:17:30" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000457382" "00455766" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000457467" "00455851" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000471097" "00469429" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471098" "00469430" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471099" "00469431" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471100" "00469432" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 65 "{{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}}" "0000255076" "0" "30" "16" "726381" "726381" "subst" "0" "01943" "RHBDL1_000001" "g.726381A>G" "" "" "" "RHBDL1(NM_001278720.1):c.85A>G (p.T29A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.676381A>G" "" "likely benign" "" "0000256046" "0" "50" "16" "732418" "732418" "subst" "0" "01943" "JMJD8_000002" "g.732418A>T" "" "" "" "STUB1(NM_005861.3):c.841A>T (p.I281F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.682418A>T" "" "VUS" "" "0000256135" "0" "50" "16" "731512" "731512" "subst" "0.000625169" "01943" "STUB1_000005" "g.731512A>C" "" "" "" "STUB1(NM_005861.2):c.433A>C (p.(Lys145Gln)), STUB1(NM_005861.3):c.433A>C (p.K145Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.681512A>C" "" "VUS" "" "0000256289" "0" "50" "16" "730526" "730526" "subst" "0" "01943" "STUB1_000001" "g.730526A>G" "" "" "" "STUB1(NM_005861.3):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.680526A>G" "" "VUS" "" "0000315899" "0" "50" "16" "731188" "731188" "subst" "0" "01943" "STUB1_000002" "g.731188C>T" "" "" "" "STUB1(NM_005861.3):c.196C>T (p.R66W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.681188C>T" "" "VUS" "" "0000315900" "0" "50" "16" "731498" "731498" "subst" "0" "01943" "STUB1_000004" "g.731498G>A" "" "" "" "STUB1(NM_001293197.1):c.203G>A (p.R68Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.681498G>A" "" "VUS" "" "0000315901" "0" "30" "16" "731318" "731318" "subst" "0.00388046" "01943" "STUB1_000003" "g.731318G>A" "" "" "" "STUB1(NM_005861.2):c.326G>A (p.(Ser109Asn)), STUB1(NM_005861.3):c.326G>A (p.S109N), STUB1(NM_005861.4):c.326G>A (p.S109N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.681318G>A" "" "likely benign" "" "0000324374" "0" "50" "16" "727043" "727043" "subst" "0" "01804" "RHBDL1_000002" "g.727043A>C" "" "" "" "RHBDL1(NM_001278720.1):c.499A>C (p.(Lys167Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.677043A>C" "" "VUS" "" "0000324375" "0" "50" "16" "731512" "731512" "subst" "0.000625169" "01804" "STUB1_000005" "g.731512A>C" "" "" "" "STUB1(NM_005861.2):c.433A>C (p.(Lys145Gln)), STUB1(NM_005861.3):c.433A>C (p.K145Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.681512A>C" "" "VUS" "" "0000437555" "0" "90" "16" "732053" "732053" "dup" "0" "01807" "STUB1_000006" "g.732053dup" "" "" "" "646dupT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.682053dup" "" "pathogenic" "" "0000559094" "0" "50" "16" "730632" "730632" "subst" "0" "01943" "JMJD8_000003" "g.730632T>C" "" "" "" "STUB1(NM_005861.3):c.107T>C (p.L36P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.680632T>C" "" "VUS" "" "0000559095" "0" "50" "16" "730671" "730671" "subst" "0" "01943" "JMJD8_000004" "g.730671A>G" "" "" "" "STUB1(NM_005861.3):c.146A>G (p.Y49C), STUB1(NM_005861.4):c.146A>G (p.Y49C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.680671A>G" "" "VUS" "" "0000559096" "0" "70" "16" "730671" "730671" "subst" "0" "02327" "JMJD8_000004" "g.730671A>G" "" "" "" "STUB1(NM_005861.3):c.146A>G (p.Y49C), STUB1(NM_005861.4):c.146A>G (p.Y49C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.680671A>G" "" "likely pathogenic" "" "0000559097" "0" "30" "16" "731595" "731595" "subst" "0" "01943" "JMJD8_000005" "g.731595G>A" "" "" "" "STUB1(NM_001293197.1):c.300G>A (p.E100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.681595G>A" "" "likely benign" "" "0000559098" "0" "50" "16" "732451" "732452" "del" "0" "02325" "JMJD8_000006" "g.732451_732452del" "" "" "" "STUB1(NM_001293197.2):c.658_659delGC (p.A220Ifs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.682451_682452del" "" "VUS" "" "0000559099" "0" "30" "16" "734253" "734253" "subst" "9.54563E-5" "01943" "JMJD8_000007" "g.734253C>T" "" "" "" "JMJD8(NM_001323918.2):c.67G>A (p.A23T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.684253C>T" "" "likely benign" "" "0000616126" "0" "30" "16" "731318" "731318" "subst" "0.00388046" "01804" "STUB1_000003" "g.731318G>A" "" "" "" "STUB1(NM_005861.2):c.326G>A (p.(Ser109Asn)), STUB1(NM_005861.3):c.326G>A (p.S109N), STUB1(NM_005861.4):c.326G>A (p.S109N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.681318G>A" "" "likely benign" "" "0000616127" "0" "50" "16" "732217" "732217" "subst" "4.07352E-6" "02327" "JMJD8_000013" "g.732217G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.682217G>C" "" "VUS" "" "0000616128" "0" "50" "16" "732990" "732990" "subst" "0" "01943" "JMJD8_000015" "g.732990G>A" "" "" "" "JMJD8(NM_001323918.2):c.677C>T (p.S226F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.682990G>A" "" "VUS" "" "0000623524" "0" "30" "16" "731481" "731481" "subst" "6.52821E-5" "01943" "JMJD8_000009" "g.731481C>T" "" "" "" "STUB1(NM_001293197.1):c.186C>T (p.D62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.681481C>T" "" "likely benign" "" "0000623525" "0" "30" "16" "731845" "731845" "subst" "0.000420518" "01943" "JMJD8_000010" "g.731845G>A" "" "" "" "STUB1(NM_001293197.1):c.361G>A (p.V121I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.681845G>A" "" "likely benign" "" "0000623526" "0" "50" "16" "731848" "731848" "subst" "1.63348E-5" "01943" "JMJD8_000011" "g.731848C>T" "" "" "" "STUB1(NM_001293197.1):c.364C>T (p.R122W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.681848C>T" "" "VUS" "" "0000623527" "0" "30" "16" "732049" "732049" "subst" "0.00375177" "01943" "JMJD8_000012" "g.732049T>C" "" "" "" "STUB1(NM_001293197.1):c.426T>C (p.L142=), STUB1(NM_005861.4):c.642T>C (p.L214=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.682049T>C" "" "likely benign" "" "0000623528" "0" "30" "16" "732408" "732408" "subst" "0.000150553" "01943" "JMJD8_000014" "g.732408G>A" "" "" "" "STUB1(NM_001293197.1):c.615G>A (p.Q205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.682408G>A" "" "likely benign" "" "0000680656" "0" "50" "16" "730632" "730632" "subst" "0" "02327" "JMJD8_000003" "g.730632T>C" "" "" "" "STUB1(NM_005861.3):c.107T>C (p.L36P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680657" "0" "50" "16" "730659" "730659" "subst" "0" "02325" "JMJD8_000016" "g.730659C>G" "" "" "" "STUB1(NM_005861.4):c.134C>G (p.A45G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692129" "0" "50" "16" "727652" "727652" "subst" "0" "01943" "JMJD8_000017" "g.727652T>G" "" "" "" "RHBDL1(NM_001318733.1):c.998T>G (p.M333R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692131" "0" "50" "16" "731512" "731512" "subst" "0.000625169" "02327" "STUB1_000005" "g.731512A>C" "" "" "" "STUB1(NM_005861.2):c.433A>C (p.(Lys145Gln)), STUB1(NM_005861.3):c.433A>C (p.K145Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692132" "0" "50" "16" "732392" "732392" "subst" "1.62733E-5" "02327" "JMJD8_000018" "g.732392G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000703814" "0" "70" "16" "730528" "730528" "subst" "0" "01807" "STUB1_000007" "g.730528G>A" "" "" "" "Met1?" "" "Unknown" "" "" "0" "" "" "g.680528G>A" "" "likely pathogenic" "" "0000703815" "0" "90" "16" "732182" "732185" "del" "8.14432E-6" "01807" "STUB1_000008" "g.732182_732185del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000725958" "0" "50" "16" "731512" "731514" "del" "0" "02325" "JMJD8_000019" "g.731512_731514del" "" "" "" "STUB1(NM_001293197.1):c.217_219delAAG (p.K73del), STUB1(NM_005861.2):c.433_435delAAG (p.(Lys145del)), STUB1(NM_005861.4):c.433_435delAAG (p.K145del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725959" "0" "30" "16" "731556" "731556" "subst" "2.86885E-5" "01943" "JMJD8_000020" "g.731556C>T" "" "" "" "STUB1(NM_001293197.1):c.261C>T (p.S87=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725960" "0" "30" "16" "731592" "731592" "subst" "1.65146E-5" "01943" "JMJD8_000021" "g.731592G>A" "" "" "" "STUB1(NM_001293197.1):c.297G>A (p.A99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000735231" "3" "50" "16" "731161" "731161" "subst" "0" "03286" "STUB1_000009" "g.731161C>T" "" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "" "ACMG PM1, PM2, PP2; The patient\'s clinical phenotype shares a number of features with previous reports for this gene, notably onset of prominent ataxia in the second decade, with myoclonus and cognitive impairment. The parents are related, consistent with the ultra-rare variant being homozygous. It is therefore with high confidence that we expand the STUB phenotype to PME." "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000807585" "0" "70" "16" "730671" "730671" "subst" "0" "02325" "JMJD8_000004" "g.730671A>G" "" "" "" "STUB1(NM_005861.3):c.146A>G (p.Y49C), STUB1(NM_005861.4):c.146A>G (p.Y49C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000807586" "0" "50" "16" "732080" "732082" "del" "0" "01943" "JMJD8_000022" "g.732080_732082del" "" "" "" "STUB1(NM_001293197.1):c.453+4_453+6delAGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854633" "0" "50" "16" "731832" "731834" "del" "0" "01943" "JMJD8_000023" "g.731832_731834del" "" "" "" "STUB1(NM_001293197.1):c.348_350delGGA (p.E116del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864930" "0" "50" "16" "731512" "731514" "del" "0" "01943" "JMJD8_000019" "g.731512_731514del" "" "" "" "STUB1(NM_001293197.1):c.217_219delAAG (p.K73del), STUB1(NM_005861.2):c.433_435delAAG (p.(Lys145del)), STUB1(NM_005861.4):c.433_435delAAG (p.K145del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893172" "0" "30" "16" "731318" "731318" "subst" "0.00388046" "02326" "STUB1_000003" "g.731318G>A" "" "" "" "STUB1(NM_005861.2):c.326G>A (p.(Ser109Asn)), STUB1(NM_005861.3):c.326G>A (p.S109N), STUB1(NM_005861.4):c.326G>A (p.S109N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893173" "0" "90" "16" "731812" "731812" "subst" "0" "02327" "JMJD8_000024" "g.731812C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000893174" "0" "50" "16" "732216" "732216" "subst" "8.14943E-6" "02327" "JMJD8_000025" "g.732216C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893175" "0" "50" "16" "732281" "732281" "subst" "0" "02327" "JMJD8_000026" "g.732281G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914687" "0" "10" "16" "732289" "732289" "del" "0" "02329" "JMJD8_000027" "g.732289del" "" "" "" "STUB1(NM_005861.4):c.786+8delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914688" "0" "50" "16" "732799" "732799" "subst" "0.00105644" "02325" "JMJD8_000028" "g.732799C>T" "" "" "" "STUB1(NM_005861.4):c.*310C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926344" "0" "10" "16" "732049" "732049" "subst" "0.00375177" "02326" "JMJD8_000012" "g.732049T>C" "" "" "" "STUB1(NM_001293197.1):c.426T>C (p.L142=), STUB1(NM_005861.4):c.642T>C (p.L214=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930653" "0" "50" "16" "731251" "731251" "subst" "0" "02325" "JMJD8_000029" "g.731251C>G" "" "" "" "STUB1(NM_005861.4):c.259C>G (p.L87V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968508" "0" "70" "16" "732368" "732369" "del" "0" "02327" "JMJD8_000030" "g.732368_732369del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000968509" "0" "50" "16" "732451" "732451" "subst" "3.26667E-5" "02327" "JMJD8_000031" "g.732451G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982071" "0" "50" "16" "730668" "730668" "subst" "0" "01804" "JMJD8_000032" "g.730668G>A" "" "" "" "STUB1(NM_005861.4):c.143G>A (p.(Cys48Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982072" "0" "90" "16" "732400" "732400" "subst" "0" "01804" "JMJD8_000033" "g.732400C>G" "" "" "" "STUB1(NM_005861.4):c.823C>G (p.(Leu275Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000985176" "3" "70" "16" "731150" "731150" "subst" "0" "03544" "STUB1_000010" "g.731150A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.681150A>G" "" "likely pathogenic (recessive)" "ACMG" "0001002580" "0" "70" "16" "731212" "731212" "subst" "0" "02327" "JMJD8_000034" "g.731212C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001002581" "0" "50" "16" "731512" "731514" "del" "0" "01804" "JMJD8_000019" "g.731512_731514del" "" "" "" "STUB1(NM_001293197.1):c.217_219delAAG (p.K73del), STUB1(NM_005861.2):c.433_435delAAG (p.(Lys145del)), STUB1(NM_005861.4):c.433_435delAAG (p.K145del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002582" "0" "30" "16" "731537" "731537" "subst" "0" "01804" "JMJD8_000035" "g.731537G>A" "" "" "" "STUB1(NM_005861.2):c.458G>A (p.(Arg153Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001011885" "0" "90" "16" "732255" "732255" "subst" "0" "00006" "STUB1_000011" "g.732255C>G" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Unknown" "" "" "0" "" "" "g.682255C>G" "SUB7797619" "pathogenic" "" "0001011970" "0" "90" "16" "732431" "732431" "subst" "0" "00006" "STUB1_000012" "g.732431C>A" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Unknown" "" "" "0" "" "" "g.682431C>A" "RCV000310020.1" "pathogenic" "" "0001017803" "0" "90" "16" "731512" "731512" "subst" "0.000625169" "03779" "STUB1_000005" "g.731512A>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs146251364" "0" "" "" "" "" "pathogenic" "" "0001041347" "0" "50" "16" "735581" "735581" "subst" "0.000201795" "01804" "JMJD8_000036" "g.735581G>A" "" "" "" "WDR24(NM_032259.4):c.1695C>T (p.(Cys565=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055294" "0" "50" "16" "726121" "726121" "subst" "0.00120668" "01804" "JMJD8_000037" "g.726121G>C" "" "" "" "RHBDL1(NM_001318733.2):c.20G>C (p.(Gly7Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055295" "0" "50" "16" "730569" "730569" "subst" "7.86111E-5" "01804" "JMJD8_000038" "g.730569C>T" "" "" "" "STUB1(NM_005861.4):c.44C>T (p.(Ala15Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059219" "0" "90" "16" "731352" "731352" "subst" "0" "00006" "STUB1_000014" "g.731352T>G" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.681352T>G" "" "pathogenic" "" "0001059220" "0" "70" "16" "732421" "732421" "subst" "4.07027E-6" "00006" "STUB1_000016" "g.732421C>G" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.682421C>G" "" "likely pathogenic" "" "0001059221" "0" "70" "16" "732154" "732155" "del" "1.22765E-5" "00006" "STUB1_000015" "g.732154_732155del" "" "{PMID:Retterer 2016:26633542}" "" "670-11_670-10delCT" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.682154_682155del" "" "likely pathogenic" "" "0001059222" "0" "70" "16" "731260" "731260" "subst" "0" "00006" "STUB1_000013" "g.731260G>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.681260G>T" "" "likely pathogenic" "" ## 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 STUB1 ## Count = 65 "{{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}}" "0000255076" "00020509" "30" "-4145" "0" "-4145" "0" "c.-4145A>G" "r.(?)" "p.(=)" "" "0000256046" "00020509" "50" "841" "0" "841" "0" "c.841A>T" "r.(?)" "p.(Ile281Phe)" "" "0000256135" "00020509" "50" "433" "0" "433" "0" "c.433A>C" "r.(?)" "p.(Lys145Gln)" "" "0000256289" "00020509" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000315899" "00020509" "50" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Arg66Trp)" "" "0000315900" "00020509" "50" "419" "0" "419" "0" "c.419G>A" "r.(?)" "p.(Arg140Gln)" "" "0000315901" "00020509" "30" "326" "0" "326" "0" "c.326G>A" "r.(?)" "p.(Ser109Asn)" "" "0000324374" "00020509" "50" "-3483" "0" "-3483" "0" "c.-3483A>C" "r.(?)" "p.(=)" "" "0000324375" "00020509" "50" "433" "0" "433" "0" "c.433A>C" "r.(?)" "p.(Lys145Gln)" "" "0000437555" "00020509" "90" "646" "0" "646" "0" "c.646dup" "r.(?)" "p.(Ser216Phefs*5)" "" "0000559094" "00020509" "50" "107" "0" "107" "0" "c.107T>C" "r.(?)" "p.(Leu36Pro)" "" "0000559095" "00020509" "50" "146" "0" "146" "0" "c.146A>G" "r.(?)" "p.(Tyr49Cys)" "" "0000559096" "00020509" "70" "146" "0" "146" "0" "c.146A>G" "r.(?)" "p.(Tyr49Cys)" "" "0000559097" "00020509" "30" "516" "0" "516" "0" "c.516G>A" "r.(?)" "p.(Glu172=)" "" "0000559098" "00020509" "50" "874" "0" "875" "0" "c.874_875del" "r.(?)" "p.(Ala292IlefsTer4)" "" "0000559099" "00020509" "30" "2676" "0" "2676" "0" "c.*1764C>T" "r.(=)" "p.(=)" "" "0000616126" "00020509" "30" "326" "0" "326" "0" "c.326G>A" "r.(?)" "p.(Ser109Asn)" "" "0000616127" "00020509" "50" "722" "0" "722" "0" "c.722G>C" "r.(?)" "p.(Arg241Pro)" "" "0000616128" "00020509" "50" "1413" "0" "1413" "0" "c.*501G>A" "r.(=)" "p.(=)" "" "0000623524" "00020509" "30" "402" "0" "402" "0" "c.402C>T" "r.(?)" "p.(Asp134=)" "" "0000623525" "00020509" "30" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Val193Ile)" "" "0000623526" "00020509" "50" "580" "0" "580" "0" "c.580C>T" "r.(?)" "p.(Arg194Trp)" "" "0000623527" "00020509" "30" "642" "0" "642" "0" "c.642T>C" "r.(?)" "p.(Leu214=)" "" "0000623528" "00020509" "30" "831" "0" "831" "0" "c.831G>A" "r.(?)" "p.(Gln277=)" "" "0000680656" "00020509" "50" "107" "0" "107" "0" "c.107T>C" "r.(?)" "p.(Leu36Pro)" "" "0000680657" "00020509" "50" "134" "0" "134" "0" "c.134C>G" "r.(?)" "p.(Ala45Gly)" "" "0000692129" "00020509" "50" "-2874" "0" "-2874" "0" "c.-2874T>G" "r.(?)" "p.(=)" "" "0000692131" "00020509" "50" "433" "0" "433" "0" "c.433A>C" "r.(?)" "p.(Lys145Gln)" "" "0000692132" "00020509" "50" "815" "0" "815" "0" "c.815G>A" "r.(?)" "p.(Arg272Gln)" "" "0000703814" "00020509" "70" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.0?" "" "0000703815" "00020509" "90" "689" "0" "692" "0" "c.689_692del" "r.(?)" "p.(Tyr230CysfsTer9)" "" "0000725958" "00020509" "50" "433" "0" "435" "0" "c.433_435del" "r.(?)" "p.(Lys145del)" "" "0000725959" "00020509" "30" "477" "0" "477" "0" "c.477C>T" "r.(?)" "p.(Ser159=)" "" "0000725960" "00020509" "30" "513" "0" "513" "0" "c.513G>A" "r.(?)" "p.(Ala171=)" "" "0000735231" "00020509" "50" "169" "0" "169" "0" "c.169C>T" "r.(?)" "p.(Pro57Ser)" "" "0000807585" "00020509" "70" "146" "0" "146" "0" "c.146A>G" "r.(?)" "p.(Tyr49Cys)" "" "0000807586" "00020509" "50" "669" "4" "669" "6" "c.669+4_669+6del" "r.spl?" "p.?" "" "0000854633" "00020509" "50" "564" "0" "566" "0" "c.564_566del" "r.(?)" "p.(Glu188del)" "" "0000864930" "00020509" "50" "433" "0" "435" "0" "c.433_435del" "r.(?)" "p.(Lys145del)" "" "0000893172" "00020509" "30" "326" "0" "326" "0" "c.326G>A" "r.(?)" "p.(Ser109Asn)" "" "0000893173" "00020509" "90" "544" "0" "544" "0" "c.544C>T" "r.(?)" "p.(Arg182*)" "" "0000893174" "00020509" "50" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Trp)" "" "0000893175" "00020509" "50" "786" "0" "786" "0" "c.786G>C" "r.(?)" "p.(Gln262His)" "" "0000914687" "00020509" "10" "786" "8" "786" "8" "c.786+8del" "r.(=)" "p.(=)" "" "0000914688" "00020509" "50" "1222" "0" "1222" "0" "c.*310C>T" "r.(=)" "p.(=)" "" "0000926344" "00020509" "10" "642" "0" "642" "0" "c.642T>C" "r.(?)" "p.(Leu214=)" "" "0000930653" "00020509" "50" "259" "0" "259" "0" "c.259C>G" "r.(?)" "p.(Leu87Val)" "" "0000968508" "00020509" "70" "791" "0" "792" "0" "c.791_792del" "r.(?)" "p.(Val264Glyfs*4)" "" "0000968509" "00020509" "50" "874" "0" "874" "0" "c.874G>A" "r.(?)" "p.(Ala292Thr)" "" "0000982071" "00020509" "50" "143" "0" "143" "0" "c.143G>A" "r.(?)" "p.(Cys48Tyr)" "" "0000982072" "00020509" "90" "823" "0" "823" "0" "c.823C>G" "r.(?)" "p.(Leu275Val)" "" "0000985176" "00020509" "70" "160" "-2" "160" "-2" "c.160-2A>G" "r.spl" "p.?" "1i" "0001002580" "00020509" "70" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(Gln74*)" "" "0001002581" "00020509" "50" "433" "0" "435" "0" "c.433_435del" "r.(?)" "p.(Lys145del)" "" "0001002582" "00020509" "30" "458" "0" "458" "0" "c.458G>A" "r.(?)" "p.(Arg153Gln)" "" "0001011885" "00020509" "90" "760" "0" "760" "0" "c.760C>G" "r.(?)" "p.(Arg254Gly)" "" "0001011970" "00020509" "90" "854" "0" "854" "0" "c.854C>A" "r.(?)" "p.(Ala285Asp)" "" "0001017803" "00020509" "90" "433" "0" "433" "0" "c.433A>C" "r.(?)" "p.(Lys145Gln)" "" "0001041347" "00020509" "50" "4004" "0" "4004" "0" "c.*3092G>A" "r.(=)" "p.(=)" "" "0001055294" "00020509" "50" "-4405" "0" "-4405" "0" "c.-4405G>C" "r.(?)" "p.(=)" "" "0001055295" "00020509" "50" "44" "0" "44" "0" "c.44C>T" "r.(?)" "p.(Ala15Val)" "" "0001059219" "00020509" "90" "358" "2" "358" "2" "c.358+2T>G" "r.spl" "p.?" "" "0001059220" "00020509" "70" "844" "0" "844" "0" "c.844C>G" "r.(?)" "p.(Pro282Ala)" "" "0001059221" "00020509" "70" "670" "-11" "670" "-10" "c.670-11_670-10del" "r.spl?" "p.?" "" "0001059222" "00020509" "70" "268" "0" "268" "0" "c.268G>T" "r.(?)" "p.(Asp90Tyr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000207849" "0000437555" "0000321042" "0000703815" "0000321043" "0000703814" "0000336145" "0000735231" "0000451325" "0000985176" "0000457382" "0001011885" "0000457467" "0001011970" "0000471097" "0001059219" "0000471098" "0001059220" "0000471099" "0001059221" "0000471100" "0001059222"