### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SQSTM1) # 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}}" "SQSTM1" "sequestosome 1" "5" "q35" "unknown" "NG_011342.1" "UD_132118677555" "" "https://www.LOVD.nl/SQSTM1" "" "1" "11280" "8878" "601530" "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/SQSTM1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-12-31 16:40:01" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00025497" "SQSTM1" "transcript variant 1" "003" "NM_003900.4" "" "NP_003891.1" "" "" "" "-95" "2808" "1323" "179247842" "179265078" "00006" "2020-03-01 10:52:44" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "04255" "ALS" "sclerosis, lateral, amyotrophic (ALS)" "" "" "" "" "" "00015" "2015-05-08 11:45:27" "00006" "2015-12-08 23:53:05" "04673" "FTDALS3" "dementia, frontotemporal, and/or amyotrophic lateral sclerosis, type 3 (FTDALS-3)" "AD" "616437" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" "04674" "PDB3" "Paget disease of bone, type 3 (PDB-3)" "AD" "167250" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" "06661" "NADGP" "Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset" "AR" "617145" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06662" "DMRV" "Myopathy, distal, with rimmed vacuoles" "AD" "617158" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "SQSTM1" "04673" "SQSTM1" "04674" "SQSTM1" "06661" "SQSTM1" "06662" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00147080" "" "" "" "1" "" "00006" "{PMID:Yang 2015:25708934}" "" "F" "" "China" "" "0" "" "" "" "25708934-Pat1" "00147081" "" "" "" "1" "" "00006" "{PMID:Yang 2015:25708934}" "" "F" "" "China" "" "0" "" "" "" "25708934-Pat2" "00147082" "" "" "" "1" "" "00006" "{PMID:Yang 2015:25708934}" "" "M" "" "China" "" "0" "" "" "" "25708934-Pat3" "00147083" "" "" "" "1" "" "00006" "{PMID:Yang 2015:25708934}" "" "F" "" "China" "" "0" "" "" "" "25708934-Pat4" "00147084" "" "" "" "1" "" "00006" "{PMID:Yang 2015:25708934}" "" "M" "" "China" "" "0" "" "" "" "25708934-Pat5" "00147085" "" "" "" "1" "" "00006" "{PMID:Yang 2015:25708934}" "" "M" "" "China" "" "0" "" "" "" "25708934-Pat6" "00289142" "" "" "" "1" "" "00006" "{PMID:Evilä 2016:26627873}" "" "" "" "France" "" "0" "" "" "" "P11" "00289143" "" "" "" "1" "" "00006" "{PMID:Evilä 2016:26627873}" "" "" "" "Australia" "" "0" "" "" "" "P12" "00293831" "" "" "" "20" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293832" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00374512" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4130" "00374513" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2368" "00407046" "" "" "" "2" "" "00006" "{PMID:Jiang 2022:33563768}" "" "M" "" "China" "" "0" "" "" "" "TRPM7/SQSTM1#1" "00432525" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "251394" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00147080" "04255" "00147081" "04255" "00147082" "04255" "00147083" "04255" "00147084" "04255" "00147085" "04255" "00289142" "00244" "00289143" "00244" "00293831" "00198" "00293832" "00198" "00374512" "00198" "00374513" "00198" "00407046" "04255" "00432525" "06662" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 04255, 04673, 04674, 06661, 06662 ## 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}}" "0000119796" "04255" "00147080" "00006" "Isolated (sporadic)" "" "no dementia, no Paget’s disease of bone" "58y" "" "limb" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "" "0000119797" "04255" "00147081" "00006" "Isolated (sporadic)" "" "no dementia, no Paget’s disease of bone" "39y" "" "limb" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "" "0000119798" "04255" "00147082" "00006" "Isolated (sporadic)" "" "no dementia, no Paget’s disease of bone" "59y" "" "limb" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "" "0000119799" "04255" "00147083" "00006" "Isolated (sporadic)" "" "no dementia, no Paget’s disease of bone" "38y" "" "limb" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "" "0000119800" "04255" "00147084" "00006" "Isolated (sporadic)" "" "no dementia, no Paget’s disease of bone" "65y" "" "limb" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "" "0000119801" "04255" "00147085" "00006" "Isolated (sporadic)" "" "no dementia, no Paget’s disease of bone" "38y" "" "limb" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "" "0000222775" "00244" "00289142" "00006" "Unknown" "" "distal rimmed vacuolar myopathy" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000222776" "00244" "00289143" "00006" "Unknown" "" "scapuloperoneal rimmed vacuolar" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000269722" "00198" "00374512" "00006" "Familial, autosomal recessive" "" "Ataxia, cognitive decline, oculomotor and eyelid apraxia" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000269723" "00198" "00374513" "00006" "Familial, autosomal recessive" "" "Ataxia, abnormal gait, hypotonia, clumsiness of all four limbs, recurrent falls, opthalmoplegia, abnormal eye movements, fundus albipunctatus, lactic acidemia and pancerebellar signs" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000299434" "04255" "00407046" "00006" "Familial, autosomal dominant" "17y" "site onset limb" "" "" "" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "" "0000323087" "06662" "00432525" "01164" "Unknown" "" "Skeletal myopathy, Elevated circulating creatine kinase concentration, Muscle fiber necrosis, EMG abnormality" "50y" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000147935" "00147080" "1" "00006" "00006" "2017-12-31 16:33:39" "" "" "SEQ" "DNA" "" "" "0000147936" "00147081" "1" "00006" "00006" "2017-12-31 16:33:39" "" "" "SEQ" "DNA" "" "" "0000147937" "00147082" "1" "00006" "00006" "2017-12-31 16:33:39" "" "" "SEQ" "DNA" "" "" "0000147938" "00147083" "1" "00006" "00006" "2017-12-31 16:33:39" "" "" "SEQ" "DNA" "" "" "0000147939" "00147084" "1" "00006" "00006" "2017-12-31 16:33:39" "" "" "SEQ" "DNA" "" "" "0000147940" "00147085" "1" "00006" "00006" "2017-12-31 16:33:39" "" "" "SEQ" "DNA" "" "" "0000290312" "00289142" "1" "00006" "00006" "2020-03-01 11:31:09" "" "" "SEQ;SEQ-NG" "DNA" "" "MyoCap 180 myopathy gene panel" "0000290313" "00289143" "1" "00006" "00006" "2020-03-01 11:31:09" "" "" "SEQ;SEQ-NG" "DNA" "" "MyoCap 180 myopathy gene panel" "0000294999" "00293831" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295000" "00293832" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000375706" "00374512" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375707" "00374513" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000408293" "00407046" "1" "00006" "00006" "2022-04-05 18:59:54" "" "" "SEQ" "DNA" "" "" "0000433967" "00432525" "1" "01164" "01164" "2023-02-23 16:42:25" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000147935" "SQSTM1" "0000147936" "SQSTM1" "0000147937" "SQSTM1" "0000147938" "SQSTM1" "0000147939" "SQSTM1" "0000147940" "SQSTM1" "0000290312" "SQSTM1" "0000290312" "TIA1" "0000290313" "SQSTM1" "0000290313" "TIA1" "0000375706" "SQSTM1" "0000375707" "SQSTM1" "0000433967" "SQSTM1" ## 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 = 96 "{{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}}" "0000241204" "0" "70" "5" "179249993" "179249993" "subst" "8.12341E-6" "00006" "SQSTM1_000003" "g.179249993G>A" "1/436 cases sALS" "{PMID:Yang 2015:25708934}" "" "NM_003900.4:c.241G>A (E81K)" "not in 768 control chromosomes" "Germline" "" "rs368853286" "0" "" "" "g.179822993G>A" "" "likely pathogenic" "" "0000241205" "0" "70" "5" "179252189" "179252189" "subst" "0" "00006" "SQSTM1_000004" "g.179252189C>A" "1/436 cases sALS" "{PMID:Yang 2015:25708934}" "" "NM_003900.4:c.717C>A (N239K)" "not in 768 control chromosomes" "Germline" "" "" "0" "" "" "g.179825189C>A" "" "likely pathogenic" "" "0000241206" "0" "70" "5" "179260166" "179260166" "subst" "0" "00006" "SQSTM1_000005" "g.179260166G>A" "1/436 cases sALS" "{PMID:Yang 2015:25708934}" "" "NM_003900.4:c.889G>A (G297S)" "not in 768 control chromosomes" "Germline" "" "" "0" "" "" "g.179833166G>A" "" "likely pathogenic" "" "0000241207" "0" "70" "5" "179260733" "179260733" "subst" "0" "00006" "SQSTM1_000006" "g.179260733G>C" "1/436 cases sALS" "{PMID:Yang 2015:25708934}" "" "NM_003900.4:c.1116G>C (E372D)" "not in 768 control chromosomes" "Germline" "" "" "0" "" "" "g.179833733G>C" "" "likely pathogenic" "" "0000241208" "0" "70" "5" "179260779" "179260779" "subst" "0" "00006" "SQSTM1_000007" "g.179260779C>T" "1/436 cases sALS" "{PMID:Yang 2015:25708934}" "" "NM_003900.4:c.1162C>T (P388S)" "not in 768 control chromosomes" "Germline" "" "" "0" "" "" "g.179833779C>T" "" "likely pathogenic" "" "0000241209" "0" "70" "5" "179263445" "179263445" "subst" "0.000988689" "00006" "SQSTM1_000008" "g.179263445C>T" "1/436 cases sALS" "{PMID:Yang 2015:25708934}" "" "NM_003900.4:c.1175C>T (P392L)" "not in 768 control chromosomes" "Germline" "" "rs104893941" "0" "" "" "g.179836445C>T" "" "likely pathogenic" "" "0000249971" "0" "30" "5" "179260613" "179260613" "subst" "0.000511717" "02329" "SQSTM1_000027" "g.179260613A>G" "" "" "" "SQSTM1(NM_003900.5):c.996A>G (p.S332=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179833613A>G" "" "likely benign" "" "0000250433" "0" "30" "5" "179260791" "179260791" "subst" "0.000207707" "02329" "SQSTM1_000030" "g.179260791A>G" "" "" "" "SQSTM1(NM_003900.5):c.1165+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179833791A>G" "" "likely benign" "" "0000254062" "0" "30" "5" "179260613" "179260613" "subst" "0.000511717" "01943" "SQSTM1_000027" "g.179260613A>G" "" "" "" "SQSTM1(NM_003900.5):c.996A>G (p.S332=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179833613A>G" "" "likely benign" "" "0000254391" "0" "30" "5" "179251086" "179251086" "subst" "0" "01943" "SQSTM1_000014" "g.179251086A>C" "" "" "" "SQSTM1(NM_001142298.1):c.278A>C (p.E93A), SQSTM1(NM_003900.5):c.530A>C (p.E177A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179824086A>C" "" "likely benign" "" "0000256356" "0" "50" "5" "179250930" "179250930" "subst" "2.84571E-5" "01943" "SQSTM1_000013" "g.179250930A>G" "" "" "" "SQSTM1(NM_003900.5):c.374A>G (p.N125S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179823930A>G" "" "VUS" "" "0000308834" "0" "10" "5" "179260153" "179260153" "subst" "0.627478" "02330" "SQSTM1_000020" "g.179260153C>T" "" "" "" "SQSTM1(NM_001142298.2):c.624C>T (p.D208=), SQSTM1(NM_003900.5):c.876C>T (p.D292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179833153C>T" "" "benign" "" "0000308835" "0" "10" "5" "179260213" "179260213" "subst" "0.599533" "02330" "SQSTM1_000023" "g.179260213G>A" "" "" "" "SQSTM1(NM_001142298.2):c.684G>A (p.R228=), SQSTM1(NM_003900.5):c.936G>A (p.R312=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179833213G>A" "" "benign" "" "0000311560" "0" "10" "5" "179260153" "179260153" "subst" "0.627478" "02325" "SQSTM1_000020" "g.179260153C>T" "" "" "" "SQSTM1(NM_001142298.2):c.624C>T (p.D208=), SQSTM1(NM_003900.5):c.876C>T (p.D292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179833153C>T" "" "benign" "" "0000311561" "0" "10" "5" "179260213" "179260213" "subst" "0.599533" "02325" "SQSTM1_000023" "g.179260213G>A" "" "" "" "SQSTM1(NM_001142298.2):c.684G>A (p.R228=), SQSTM1(NM_003900.5):c.936G>A (p.R312=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179833213G>A" "" "benign" "" "0000313178" "0" "30" "5" "179260661" "179260661" "subst" "0.00721695" "02329" "SQSTM1_000028" "g.179260661G>A" "" "" "" "SQSTM1(NM_001142298.2):c.792G>A (p.P264=), SQSTM1(NM_003900.5):c.1044G>A (p.P348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179833661G>A" "" "likely benign" "" "0000313179" "0" "30" "5" "179263445" "179263445" "subst" "0.000988689" "02329" "SQSTM1_000008" "g.179263445C>T" "" "" "" "SQSTM1(NM_001142298.1):c.923C>T (p.P308L), SQSTM1(NM_003900.5):c.1175C>T (p.P392L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179836445C>T" "" "likely benign" "" "0000313180" "0" "30" "5" "179248119" "179248119" "subst" "0.00424929" "02329" "SQSTM1_000009" "g.179248119C>T" "" "" "" "SQSTM1(NM_003900.5):c.183C>T (p.G61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179821119C>T" "" "likely benign" "" "0000313181" "0" "50" "5" "179250921" "179250921" "subst" "0" "02329" "SQSTM1_000012" "g.179250921T>G" "" "" "" "SQSTM1(NM_003900.5):c.365T>G (p.V122G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179823921T>G" "" "VUS" "" "0000313182" "0" "10" "5" "179260153" "179260153" "subst" "0.627478" "02329" "SQSTM1_000020" "g.179260153C>T" "" "" "" "SQSTM1(NM_001142298.2):c.624C>T (p.D208=), SQSTM1(NM_003900.5):c.876C>T (p.D292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179833153C>T" "" "benign" "" "0000313183" "0" "30" "5" "179251313" "179251313" "subst" "4.48394E-5" "02329" "SQSTM1_000015" "g.179251313G>A" "" "" "" "SQSTM1(NM_003900.5):c.663G>A (p.T221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179824313G>A" "" "likely benign" "" "0000313185" "0" "10" "5" "179260213" "179260213" "subst" "0.599533" "02329" "SQSTM1_000023" "g.179260213G>A" "" "" "" "SQSTM1(NM_001142298.2):c.684G>A (p.R228=), SQSTM1(NM_003900.5):c.936G>A (p.R312=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179833213G>A" "" "benign" "" "0000313186" "0" "50" "5" "179252191" "179252191" "subst" "0" "02329" "SQSTM1_000018" "g.179252191T>C" "" "" "" "SQSTM1(NM_003900.5):c.719T>C (p.V240A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179825191T>C" "" "VUS" "" "0000313187" "0" "10" "5" "179260099" "179260099" "subst" "0.0178924" "02329" "SQSTM1_000019" "g.179260099G>C" "" "" "" "SQSTM1(NM_003900.5):c.822G>C (p.E274D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179833099G>C" "" "benign" "" "0000313188" "0" "30" "5" "179260183" "179260183" "subst" "0.00411977" "02329" "SQSTM1_000021" "g.179260183C>T" "" "" "" "SQSTM1(NM_003900.5):c.906C>T (p.G302=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179833183C>T" "" "likely benign" "" "0000313189" "0" "30" "5" "179260201" "179260201" "subst" "0.000417" "02329" "SQSTM1_000022" "g.179260201G>A" "" "" "" "SQSTM1(NM_001142298.2):c.672G>A (p.A224=), SQSTM1(NM_003900.5):c.924G>A (p.A308=, p.(Ala308=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179833201G>A" "" "likely benign" "" "0000313190" "0" "10" "5" "179260231" "179260231" "subst" "0.0210986" "02329" "SQSTM1_000024" "g.179260231C>T" "" "" "" "SQSTM1(NM_003900.5):c.954C>T (p.S318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179833231C>T" "" "benign" "" "0000313191" "0" "10" "5" "179260601" "179260601" "subst" "0.00448028" "02329" "SQSTM1_000026" "g.179260601G>A" "" "" "" "SQSTM1(NM_001142298.1):c.732G>A (p.S244=), SQSTM1(NM_001142298.2):c.732G>A (p.S244=), SQSTM1(NM_003900.5):c.984G>A (p.S328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179833601G>A" "" "benign" "" "0000315707" "0" "30" "5" "179260725" "179260725" "subst" "0.000495512" "01943" "SQSTM1_000029" "g.179260725T>C" "" "" "" "SQSTM1(NM_003900.5):c.1108T>C (p.S370P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179833725T>C" "" "likely benign" "" "0000315708" "0" "10" "5" "179260153" "179260153" "subst" "0.627478" "01943" "SQSTM1_000020" "g.179260153C>T" "" "" "" "SQSTM1(NM_001142298.2):c.624C>T (p.D208=), SQSTM1(NM_003900.5):c.876C>T (p.D292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179833153C>T" "" "benign" "" "0000315709" "0" "10" "5" "179260213" "179260213" "subst" "0.599533" "01943" "SQSTM1_000023" "g.179260213G>A" "" "" "" "SQSTM1(NM_001142298.2):c.684G>A (p.R228=), SQSTM1(NM_003900.5):c.936G>A (p.R312=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179833213G>A" "" "benign" "" "0000315710" "0" "50" "5" "179250884" "179250884" "subst" "0.000224519" "01943" "SQSTM1_000010" "g.179250884C>T" "" "" "" "SQSTM1(NM_001142298.1):c.76C>T (p.R26C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179823884C>T" "" "VUS" "" "0000315711" "0" "10" "5" "179260099" "179260099" "subst" "0.0178924" "01943" "SQSTM1_000019" "g.179260099G>C" "" "" "" "SQSTM1(NM_003900.5):c.822G>C (p.E274D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179833099G>C" "" "benign" "" "0000315712" "0" "30" "5" "179260201" "179260201" "subst" "0.000417" "01943" "SQSTM1_000022" "g.179260201G>A" "" "" "" "SQSTM1(NM_001142298.2):c.672G>A (p.A224=), SQSTM1(NM_003900.5):c.924G>A (p.A308=, p.(Ala308=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179833201G>A" "" "likely benign" "" "0000315713" "0" "50" "5" "179263448" "179263448" "subst" "5.28782E-5" "01943" "SQSTM1_000031" "g.179263448G>A" "" "" "" "SQSTM1(NM_001142298.1):c.926G>A (p.R309Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179836448G>A" "" "VUS" "" "0000315714" "0" "10" "5" "179260231" "179260231" "subst" "0.0210986" "01943" "SQSTM1_000024" "g.179260231C>T" "" "" "" "SQSTM1(NM_003900.5):c.954C>T (p.S318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179833231C>T" "" "benign" "" "0000315715" "0" "30" "5" "179260579" "179260579" "subst" "1.21902E-5" "01943" "SQSTM1_000025" "g.179260579T>C" "" "" "" "SQSTM1(NM_003900.5):c.970-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179833579T>C" "" "likely benign" "" "0000315716" "0" "30" "5" "179250906" "179250906" "subst" "0.00157219" "01943" "SQSTM1_000011" "g.179250906C>T" "" "" "" "SQSTM1(NM_001142298.1):c.98C>T (p.A33V), SQSTM1(NM_003900.5):c.350C>T (p.A117V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179823906C>T" "" "likely benign" "" "0000330786" "0" "30" "5" "179252184" "179252184" "subst" "0.00279048" "01804" "SQSTM1_000017" "g.179252184A>G" "" "" "" "SQSTM1(NM_001142298.1):c.460A>G (p.(Lys154Glu)), SQSTM1(NM_003900.5):c.712A>G (p.K238E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179825184A>G" "" "likely benign" "" "0000525401" "0" "30" "5" "179248034" "179248034" "subst" "0.000800755" "01943" "C5orf45_000001" "g.179248034C>T" "" "" "" "SQSTM1(NM_003900.5):c.98C>T (p.A33V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179821034C>T" "" "likely benign" "" "0000525402" "0" "50" "5" "179248075" "179248075" "subst" "1.07513E-5" "01943" "C5orf45_000002" "g.179248075C>G" "" "" "" "SQSTM1(NM_003900.5):c.139C>G (p.L47V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179821075C>G" "" "VUS" "" "0000525403" "0" "50" "5" "179248075" "179248075" "subst" "1.07513E-5" "02329" "C5orf45_000002" "g.179248075C>G" "" "" "" "SQSTM1(NM_003900.5):c.139C>G (p.L47V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179821075C>G" "" "VUS" "" "0000525404" "0" "30" "5" "179248090" "179248090" "subst" "0" "01943" "C5orf45_000003" "g.179248090G>T" "" "" "" "SQSTM1(NM_003900.5):c.154G>T (p.A52S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179821090G>T" "" "likely benign" "" "0000525405" "0" "50" "5" "179248090" "179248090" "subst" "0" "02329" "C5orf45_000003" "g.179248090G>T" "" "" "" "SQSTM1(NM_003900.5):c.154G>T (p.A52S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179821090G>T" "" "VUS" "" "0000525406" "0" "50" "5" "179248121" "179248121" "subst" "0.000519373" "01943" "C5orf45_000004" "g.179248121G>T" "" "" "" "SQSTM1(NM_003900.5):c.185G>T (p.G62V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179821121G>T" "" "VUS" "" "0000525407" "0" "30" "5" "179250906" "179250906" "subst" "0.00157219" "02329" "SQSTM1_000011" "g.179250906C>T" "" "" "" "SQSTM1(NM_001142298.1):c.98C>T (p.A33V), SQSTM1(NM_003900.5):c.350C>T (p.A117V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179823906C>T" "" "likely benign" "" "0000525408" "0" "50" "5" "179251013" "179251013" "subst" "0.000272205" "02330" "C5orf45_000005" "g.179251013G>A" "" "" "" "SQSTM1(NM_001142298.2):c.205G>A (p.V69I), SQSTM1(NM_003900.4):c.457G>A (p.(Val153Ile)), SQSTM1(NM_003900.5):c.457G>A (p.V153I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179824013G>A" "" "VUS" "" "0000525409" "0" "30" "5" "179251013" "179251013" "subst" "0.000272205" "02329" "C5orf45_000005" "g.179251013G>A" "" "" "" "SQSTM1(NM_001142298.2):c.205G>A (p.V69I), SQSTM1(NM_003900.4):c.457G>A (p.(Val153Ile)), SQSTM1(NM_003900.5):c.457G>A (p.V153I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179824013G>A" "" "likely benign" "" "0000525410" "0" "50" "5" "179251086" "179251086" "subst" "0" "02329" "SQSTM1_000014" "g.179251086A>C" "" "" "" "SQSTM1(NM_001142298.1):c.278A>C (p.E93A), SQSTM1(NM_003900.5):c.530A>C (p.E177A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179824086A>C" "" "VUS" "" "0000525411" "0" "50" "5" "179251197" "179251197" "subst" "0.000154533" "01943" "C5orf45_000006" "g.179251197C>T" "" "" "" "SQSTM1(NM_001142298.1):c.295C>T (p.R99C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179824197C>T" "" "VUS" "" "0000525412" "0" "50" "5" "179251197" "179251197" "subst" "0.000154533" "02327" "C5orf45_000006" "g.179251197C>T" "" "" "" "SQSTM1(NM_001142298.1):c.295C>T (p.R99C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179824197C>T" "" "VUS" "" "0000525413" "0" "30" "5" "179252139" "179252139" "dup" "0" "02329" "C5orf45_000007" "g.179252139dup" "" "" "" "SQSTM1(NM_003900.5):c.674-7dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179825139dup" "" "likely benign" "" "0000525414" "0" "30" "5" "179252184" "179252184" "subst" "0.00279048" "01943" "SQSTM1_000017" "g.179252184A>G" "" "" "" "SQSTM1(NM_001142298.1):c.460A>G (p.(Lys154Glu)), SQSTM1(NM_003900.5):c.712A>G (p.K238E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179825184A>G" "" "likely benign" "" "0000525415" "0" "10" "5" "179252184" "179252184" "subst" "0.00279048" "02329" "SQSTM1_000017" "g.179252184A>G" "" "" "" "SQSTM1(NM_001142298.1):c.460A>G (p.(Lys154Glu)), SQSTM1(NM_003900.5):c.712A>G (p.K238E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179825184A>G" "" "benign" "" "0000525416" "0" "10" "5" "179260009" "179260009" "subst" "0.40237" "02327" "C5orf45_000008" "g.179260009G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179833009G>A" "" "benign" "" "0000525417" "0" "30" "5" "179260088" "179260088" "subst" "4.06065E-5" "01943" "C5orf45_000009" "g.179260088G>A" "" "" "" "SQSTM1(NM_001142298.1):c.559G>A (p.V187I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179833088G>A" "" "likely benign" "" "0000525418" "0" "10" "5" "179260153" "179260153" "subst" "0.627478" "02327" "SQSTM1_000020" "g.179260153C>T" "" "" "" "SQSTM1(NM_001142298.2):c.624C>T (p.D208=), SQSTM1(NM_003900.5):c.876C>T (p.D292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179833153C>T" "" "benign" "" "0000525419" "0" "30" "5" "179260238" "179260238" "subst" "0.00271864" "02329" "C5orf45_000010" "g.179260238C>T" "" "" "" "SQSTM1(NM_003900.5):c.961C>T (p.R321C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179833238C>T" "" "likely benign" "" "0000525421" "0" "30" "5" "179260649" "179260649" "subst" "1.62444E-5" "01943" "C5orf45_000011" "g.179260649A>G" "" "" "" "SQSTM1(NM_001142298.1):c.780A>G (p.K260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179833649A>G" "" "likely benign" "" "0000525422" "0" "30" "5" "179260655" "179260655" "subst" "0.000203056" "02329" "C5orf45_000012" "g.179260655G>A" "" "" "" "SQSTM1(NM_003900.5):c.1038G>A (p.V346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179833655G>A" "" "likely benign" "" "0000525423" "0" "30" "5" "179260725" "179260725" "subst" "0.000495512" "02329" "SQSTM1_000029" "g.179260725T>C" "" "" "" "SQSTM1(NM_003900.5):c.1108T>C (p.S370P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179833725T>C" "" "likely benign" "" "0000525424" "0" "50" "5" "179263445" "179263445" "subst" "0.000988689" "01943" "SQSTM1_000008" "g.179263445C>T" "" "" "" "SQSTM1(NM_001142298.1):c.923C>T (p.P308L), SQSTM1(NM_003900.5):c.1175C>T (p.P392L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179836445C>T" "" "VUS" "" "0000525425" "0" "30" "5" "179263446" "179263446" "subst" "0.00152161" "02329" "C5orf45_000013" "g.179263446G>A" "" "" "" "SQSTM1(NM_003900.5):c.1176G>A (p.P392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179836446G>A" "" "likely benign" "" "0000525426" "0" "50" "5" "179263547" "179263547" "subst" "0.000198972" "01943" "C5orf45_000014" "g.179263547C>T" "" "" "" "SQSTM1(NM_001142298.1):c.1025C>T (p.A342V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179836547C>T" "" "VUS" "" "0000525427" "0" "30" "5" "179263554" "179263554" "subst" "3.65461E-5" "02329" "C5orf45_000015" "g.179263554G>T" "" "" "" "SQSTM1(NM_003900.5):c.1284G>T (p.L428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179836554G>T" "" "likely benign" "" "0000525428" "0" "50" "5" "179263565" "179263565" "subst" "0" "02325" "C5orf45_000016" "g.179263565A>G" "" "" "" "SQSTM1(NM_001142298.2):c.1043A>G (p.Q348R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179836565A>G" "" "VUS" "" "0000525429" "0" "30" "5" "179263586" "179263586" "subst" "0.000113696" "01943" "C5orf45_000017" "g.179263586C>T" "" "" "" "SQSTM1(NM_001142298.1):c.1064C>T (p.P355L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179836586C>T" "" "likely benign" "" "0000609656" "0" "30" "5" "179260201" "179260201" "subst" "0.000417" "02326" "SQSTM1_000022" "g.179260201G>A" "" "" "" "SQSTM1(NM_001142298.2):c.672G>A (p.A224=), SQSTM1(NM_003900.5):c.924G>A (p.A308=, p.(Ala308=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179833201G>A" "" "likely benign" "" "0000609657" "0" "10" "5" "179260213" "179260213" "subst" "0.599533" "02327" "SQSTM1_000023" "g.179260213G>A" "" "" "" "SQSTM1(NM_001142298.2):c.684G>A (p.R228=), SQSTM1(NM_003900.5):c.936G>A (p.R312=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179833213G>A" "" "benign" "" "0000609658" "0" "30" "5" "179260232" "179260232" "subst" "0.00341914" "02329" "C5orf45_000018" "g.179260232G>A" "" "" "" "SQSTM1(NM_003900.5):c.955G>A (p.E319K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179833232G>A" "" "likely benign" "" "0000609659" "0" "30" "5" "179260601" "179260601" "subst" "0.00448028" "02326" "SQSTM1_000026" "g.179260601G>A" "" "" "" "SQSTM1(NM_001142298.1):c.732G>A (p.S244=), SQSTM1(NM_001142298.2):c.732G>A (p.S244=), SQSTM1(NM_003900.5):c.984G>A (p.S328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179833601G>A" "" "likely benign" "" "0000621551" "0" "30" "5" "179260758" "179260758" "subst" "4.06319E-6" "02329" "C5orf45_000019" "g.179260758G>A" "" "" "" "SQSTM1(NM_003900.5):c.1141G>A (p.A381T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179833758G>A" "" "likely benign" "" "0000621552" "0" "30" "5" "179263548" "179263548" "subst" "0.000219272" "02329" "C5orf45_000020" "g.179263548G>A" "" "" "" "SQSTM1(NM_001142298.1):c.1026G>A (p.A342=), SQSTM1(NM_003900.5):c.1278G>A (p.A426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179836548G>A" "" "likely benign" "" "0000646964" "1" "70" "5" "179263445" "179263445" "subst" "0.000988689" "00006" "SQSTM1_000008" "g.179263445C>T" "" "{PMID:Evilä 2016:26627873}" "" "" "variant did not show full dominant penetrance" "Germline" "" "" "0" "" "" "g.179836445C>T" "" "likely pathogenic (!)" "" "0000646966" "1" "70" "5" "179260783" "179260783" "subst" "4.06951E-6" "00006" "SQSTM1_000032" "g.179260783G>A" "" "{PMID:Evilä 2016:26627873}" "" "" "variant did not show full dominant penetrance" "Germline" "" "" "0" "" "" "g.179833783G>A" "" "likely pathogenic (!)" "" "0000651688" "1" "10" "5" "179252184" "179252184" "subst" "0.00279048" "03575" "SQSTM1_000017" "g.179252184A>G" "20/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "20 heterozygous, no homozygous; {DB:CLININrs11548633}" "Germline" "" "rs11548633" "0" "" "" "g.179825184A>G" "" "benign" "" "0000651689" "1" "50" "5" "179263445" "179263445" "subst" "0.000988689" "03575" "SQSTM1_000008" "g.179263445C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs104893941}" "Germline" "" "rs104893941" "0" "" "" "g.179836445C>T" "" "VUS" "" "0000655363" "0" "30" "5" "179251205" "179251205" "subst" "0" "02329" "C5orf45_000021" "g.179251205C>G" "" "" "" "SQSTM1(NM_003900.5):c.555C>G (p.L185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179824205C>G" "" "likely benign" "" "0000689496" "0" "30" "5" "179248023" "179248023" "subst" "0" "01943" "C5orf45_000022" "g.179248023C>G" "" "" "" "SQSTM1(NM_003900.5):c.87C>G (p.P29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689497" "0" "30" "5" "179263548" "179263548" "subst" "0.000219272" "01943" "C5orf45_000020" "g.179263548G>A" "" "" "" "SQSTM1(NM_001142298.1):c.1026G>A (p.A342=), SQSTM1(NM_003900.5):c.1278G>A (p.A426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720380" "0" "30" "5" "179248119" "179248119" "subst" "0.00424929" "02326" "SQSTM1_000009" "g.179248119C>T" "" "" "" "SQSTM1(NM_003900.5):c.183C>T (p.G61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720381" "0" "30" "5" "179260601" "179260601" "subst" "0.00448028" "01943" "SQSTM1_000026" "g.179260601G>A" "" "" "" "SQSTM1(NM_001142298.1):c.732G>A (p.S244=), SQSTM1(NM_001142298.2):c.732G>A (p.S244=), SQSTM1(NM_003900.5):c.984G>A (p.S328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000787057" "3" "70" "5" "179252184" "179252185" "ins" "0" "00006" "SQSTM1_000033" "g.179252184_179252185insTCCTCCGAGTGTGAATTTCCTGA" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.179825184_179825185insTCCTCCGAGTGTGAATTTCCTGA" "" "likely pathogenic" "" "0000787058" "3" "90" "5" "179260100" "179260101" "del" "0" "00006" "SQSTM1_000034" "g.179260100_179260101del" "" "{PMID:Ganapathy 2019:31069529}" "" "c.823_824delAG" "" "Germline" "" "" "0" "" "" "g.179833100_179833101del" "{CV-RCV:000519042.1}" "pathogenic" "" "0000845187" "0" "90" "5" "179260099" "179260099" "subst" "0" "00006" "SQSTM1_000035" "g.179260099G>Y" ">1/309 cases" "{PMID:Jiang 2022:33563768}" "" "E274D" "" "Germline" "" "" "0" "" "" "g.179833099G>Y" "" "pathogenic" "" "0000850883" "0" "50" "5" "179263477" "179263477" "subst" "6.90434E-5" "01943" "C5orf45_000023" "g.179263477T>A" "" "" "" "SQSTM1(NM_001142298.1):c.955T>A (p.S319T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859897" "0" "30" "5" "179250906" "179250906" "subst" "0.00157219" "02326" "SQSTM1_000011" "g.179250906C>T" "" "" "" "SQSTM1(NM_001142298.1):c.98C>T (p.A33V), SQSTM1(NM_003900.5):c.350C>T (p.A117V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912302" "0" "30" "5" "179263515" "179263515" "subst" "0.00135221" "02329" "C5orf45_000024" "g.179263515G>A" "" "" "" "SQSTM1(NM_001142298.2):c.993G>A (p.R331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000919618" "0" "50" "5" "179260773" "179260773" "subst" "0" "01164" "SQSTM1_000036" "g.179260773C>G" "" "" "" "" "ACMG: PM2_SUP" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000963584" "0" "90" "5" "179251324" "179251324" "subst" "0" "02327" "C5orf45_000025" "g.179251324G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000976756" "0" "50" "5" "179260239" "179260239" "subst" "8.29178E-5" "01804" "C5orf45_000026" "g.179260239G>A" "" "" "" "SQSTM1(NM_003900.5):c.962G>A (p.(Arg321His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994957" "0" "30" "5" "179251013" "179251013" "subst" "0.000272205" "01804" "C5orf45_000005" "g.179251013G>A" "" "" "" "SQSTM1(NM_001142298.2):c.205G>A (p.V69I), SQSTM1(NM_003900.4):c.457G>A (p.(Val153Ile)), SQSTM1(NM_003900.5):c.457G>A (p.V153I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035145" "0" "50" "5" "179250987" "179250987" "subst" "4.06289E-6" "01804" "C5orf45_000027" "g.179250987T>A" "" "" "" "SQSTM1(NM_003900.5):c.431T>A (p.(Val144Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035146" "0" "90" "5" "179260100" "179260101" "del" "0" "01804" "SQSTM1_000034" "g.179260100_179260101del" "" "" "" "SQSTM1(NM_003900.5):c.823_824del (p.(Ser275Phefs*17))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001035147" "0" "30" "5" "179260201" "179260201" "subst" "0.000417" "01804" "SQSTM1_000022" "g.179260201G>A" "" "" "" "SQSTM1(NM_001142298.2):c.672G>A (p.A224=), SQSTM1(NM_003900.5):c.924G>A (p.A308=, p.(Ala308=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035148" "0" "30" "5" "179275055" "179275055" "subst" "4.06098E-6" "01804" "C5orf45_000028" "g.179275055T>C" "" "" "" "MRNIP(NM_016175.4):c.138A>G (p.(Glu46=))" "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 SQSTM1 ## Count = 96 "{{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}}" "0000241204" "00025497" "70" "241" "0" "241" "0" "c.241G>A" "r.(?)" "p.(Glu81Lys)" "" "0000241205" "00025497" "70" "717" "0" "717" "0" "c.717C>A" "r.(?)" "p.(Asn239Lys)" "" "0000241206" "00025497" "70" "889" "0" "889" "0" "c.889G>A" "r.(?)" "p.(Gly297Ser)" "" "0000241207" "00025497" "70" "1116" "0" "1116" "0" "c.1116G>C" "r.(?)" "p.(Glu372Asp)" "" "0000241208" "00025497" "70" "1162" "0" "1162" "0" "c.1162C>T" "r.(?)" "p.(Pro388Ser)" "" "0000241209" "00025497" "70" "1175" "0" "1175" "0" "c.1175C>T" "r.(?)" "p.(Pro392Leu)" "" "0000249971" "00025497" "30" "996" "0" "996" "0" "c.996A>G" "r.(?)" "p.(Ser332=)" "" "0000250433" "00025497" "30" "1165" "9" "1165" "9" "c.1165+9A>G" "r.(=)" "p.(=)" "" "0000254062" "00025497" "30" "996" "0" "996" "0" "c.996A>G" "r.(?)" "p.(Ser332=)" "" "0000254391" "00025497" "30" "530" "0" "530" "0" "c.530A>C" "r.(?)" "p.(Glu177Ala)" "" "0000256356" "00025497" "50" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Asn125Ser)" "" "0000308834" "00025497" "10" "876" "0" "876" "0" "c.876C>T" "r.(?)" "p.(Asp292=)" "" "0000308835" "00025497" "10" "936" "0" "936" "0" "c.936G>A" "r.(?)" "p.(Arg312=)" "" "0000311560" "00025497" "10" "876" "0" "876" "0" "c.876C>T" "r.(?)" "p.(Asp292=)" "" "0000311561" "00025497" "10" "936" "0" "936" "0" "c.936G>A" "r.(?)" "p.(Arg312=)" "" "0000313178" "00025497" "30" "1044" "0" "1044" "0" "c.1044G>A" "r.(?)" "p.(Pro348=)" "" "0000313179" "00025497" "30" "1175" "0" "1175" "0" "c.1175C>T" "r.(?)" "p.(Pro392Leu)" "" "0000313180" "00025497" "30" "183" "0" "183" "0" "c.183C>T" "r.(?)" "p.(Gly61=)" "" "0000313181" "00025497" "50" "365" "0" "365" "0" "c.365T>G" "r.(?)" "p.(Val122Gly)" "" "0000313182" "00025497" "10" "876" "0" "876" "0" "c.876C>T" "r.(?)" "p.(Asp292=)" "" "0000313183" "00025497" "30" "663" "0" "663" "0" "c.663G>A" "r.(?)" "p.(Thr221=)" "" "0000313185" "00025497" "10" "936" "0" "936" "0" "c.936G>A" "r.(?)" "p.(Arg312=)" "" "0000313186" "00025497" "50" "719" "0" "719" "0" "c.719T>C" "r.(?)" "p.(Val240Ala)" "" "0000313187" "00025497" "10" "822" "0" "822" "0" "c.822G>C" "r.(?)" "p.(Glu274Asp)" "" "0000313188" "00025497" "30" "906" "0" "906" "0" "c.906C>T" "r.(?)" "p.(Gly302=)" "" "0000313189" "00025497" "30" "924" "0" "924" "0" "c.924G>A" "r.(?)" "p.(Ala308=)" "" "0000313190" "00025497" "10" "954" "0" "954" "0" "c.954C>T" "r.(?)" "p.(Ser318=)" "" "0000313191" "00025497" "10" "984" "0" "984" "0" "c.984G>A" "r.(?)" "p.(Ser328=)" "" "0000315707" "00025497" "30" "1108" "0" "1108" "0" "c.1108T>C" "r.(?)" "p.(Ser370Pro)" "" "0000315708" "00025497" "10" "876" "0" "876" "0" "c.876C>T" "r.(?)" "p.(Asp292=)" "" "0000315709" "00025497" "10" "936" "0" "936" "0" "c.936G>A" "r.(?)" "p.(Arg312=)" "" "0000315710" "00025497" "50" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110Cys)" "" "0000315711" "00025497" "10" "822" "0" "822" "0" "c.822G>C" "r.(?)" "p.(Glu274Asp)" "" "0000315712" "00025497" "30" "924" "0" "924" "0" "c.924G>A" "r.(?)" "p.(Ala308=)" "" "0000315713" "00025497" "50" "1178" "0" "1178" "0" "c.1178G>A" "r.(?)" "p.(Arg393Gln)" "" "0000315714" "00025497" "10" "954" "0" "954" "0" "c.954C>T" "r.(?)" "p.(Ser318=)" "" "0000315715" "00025497" "30" "970" "-8" "970" "-8" "c.970-8T>C" "r.(=)" "p.(=)" "" "0000315716" "00025497" "30" "350" "0" "350" "0" "c.350C>T" "r.(?)" "p.(Ala117Val)" "" "0000330786" "00025497" "30" "712" "0" "712" "0" "c.712A>G" "r.(?)" "p.(Lys238Glu)" "" "0000525401" "00025497" "30" "98" "0" "98" "0" "c.98C>T" "r.(?)" "p.(Ala33Val)" "" "0000525402" "00025497" "50" "139" "0" "139" "0" "c.139C>G" "r.(?)" "p.(Leu47Val)" "" "0000525403" "00025497" "50" "139" "0" "139" "0" "c.139C>G" "r.(?)" "p.(Leu47Val)" "" "0000525404" "00025497" "30" "154" "0" "154" "0" "c.154G>T" "r.(?)" "p.(Ala52Ser)" "" "0000525405" "00025497" "50" "154" "0" "154" "0" "c.154G>T" "r.(?)" "p.(Ala52Ser)" "" "0000525406" "00025497" "50" "185" "0" "185" "0" "c.185G>T" "r.(?)" "p.(Gly62Val)" "" "0000525407" "00025497" "30" "350" "0" "350" "0" "c.350C>T" "r.(?)" "p.(Ala117Val)" "" "0000525408" "00025497" "50" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Val153Ile)" "" "0000525409" "00025497" "30" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Val153Ile)" "" "0000525410" "00025497" "50" "530" "0" "530" "0" "c.530A>C" "r.(?)" "p.(Glu177Ala)" "" "0000525411" "00025497" "50" "547" "0" "547" "0" "c.547C>T" "r.(?)" "p.(Arg183Cys)" "" "0000525412" "00025497" "50" "547" "0" "547" "0" "c.547C>T" "r.(?)" "p.(Arg183Cys)" "" "0000525413" "00025497" "30" "674" "-7" "674" "-7" "c.674-7dup" "r.(=)" "p.(=)" "" "0000525414" "00025497" "30" "712" "0" "712" "0" "c.712A>G" "r.(?)" "p.(Lys238Glu)" "" "0000525415" "00025497" "10" "712" "0" "712" "0" "c.712A>G" "r.(?)" "p.(Lys238Glu)" "" "0000525416" "00025497" "10" "755" "-23" "755" "-23" "c.755-23G>A" "r.(=)" "p.(=)" "" "0000525417" "00025497" "30" "811" "0" "811" "0" "c.811G>A" "r.(?)" "p.(Val271Ile)" "" "0000525418" "00025497" "10" "876" "0" "876" "0" "c.876C>T" "r.(?)" "p.(Asp292=)" "" "0000525419" "00025497" "30" "961" "0" "961" "0" "c.961C>T" "r.(?)" "p.(Arg321Cys)" "" "0000525421" "00025497" "30" "1032" "0" "1032" "0" "c.1032A>G" "r.(?)" "p.(Lys344=)" "" "0000525422" "00025497" "30" "1038" "0" "1038" "0" "c.1038G>A" "r.(?)" "p.(Val346=)" "" "0000525423" "00025497" "30" "1108" "0" "1108" "0" "c.1108T>C" "r.(?)" "p.(Ser370Pro)" "" "0000525424" "00025497" "50" "1175" "0" "1175" "0" "c.1175C>T" "r.(?)" "p.(Pro392Leu)" "" "0000525425" "00025497" "30" "1176" "0" "1176" "0" "c.1176G>A" "r.(?)" "p.(Pro392=)" "" "0000525426" "00025497" "50" "1277" "0" "1277" "0" "c.1277C>T" "r.(?)" "p.(Ala426Val)" "" "0000525427" "00025497" "30" "1284" "0" "1284" "0" "c.1284G>T" "r.(?)" "p.(Leu428=)" "" "0000525428" "00025497" "50" "1295" "0" "1295" "0" "c.1295A>G" "r.(?)" "p.(Gln432Arg)" "" "0000525429" "00025497" "30" "1316" "0" "1316" "0" "c.1316C>T" "r.(?)" "p.(Pro439Leu)" "" "0000609656" "00025497" "30" "924" "0" "924" "0" "c.924G>A" "r.(?)" "p.(Ala308=)" "" "0000609657" "00025497" "10" "936" "0" "936" "0" "c.936G>A" "r.(?)" "p.(Arg312=)" "" "0000609658" "00025497" "30" "955" "0" "955" "0" "c.955G>A" "r.(?)" "p.(Glu319Lys)" "" "0000609659" "00025497" "30" "984" "0" "984" "0" "c.984G>A" "r.(?)" "p.(Ser328=)" "" "0000621551" "00025497" "30" "1141" "0" "1141" "0" "c.1141G>A" "r.(?)" "p.(Ala381Thr)" "" "0000621552" "00025497" "30" "1278" "0" "1278" "0" "c.1278G>A" "r.(?)" "p.(Ala426=)" "" "0000646964" "00025497" "70" "1175" "0" "1175" "0" "c.1175C>T" "r.(?)" "p.(Pro392Leu)" "8" "0000646966" "00025497" "70" "1165" "1" "1165" "1" "c.1165+1G>A" "r.spl" "p.?" "7i" "0000651688" "00025497" "10" "712" "0" "712" "0" "c.712A>G" "r.(?)" "p.(Lys238Glu)" "" "0000651689" "00025497" "50" "1175" "0" "1175" "0" "c.1175C>T" "r.(?)" "p.(Pro392Leu)" "" "0000655363" "00025497" "30" "555" "0" "555" "0" "c.555C>G" "r.(?)" "p.(Leu185=)" "" "0000689496" "00025497" "30" "87" "0" "87" "0" "c.87C>G" "r.(?)" "p.(Pro29=)" "" "0000689497" "00025497" "30" "1278" "0" "1278" "0" "c.1278G>A" "r.(?)" "p.(Ala426=)" "" "0000720380" "00025497" "30" "183" "0" "183" "0" "c.183C>T" "r.(?)" "p.(Gly61=)" "" "0000720381" "00025497" "30" "984" "0" "984" "0" "c.984G>A" "r.(?)" "p.(Ser328=)" "" "0000787057" "00025497" "70" "712" "0" "713" "0" "c.712_713insTCCTCCGAGTGTGAATTTCCTGA" "r.(?)" "p.(Lys238IlefsTer5)" "5" "0000787058" "00025497" "90" "823" "0" "824" "0" "c.823_824del" "r.(?)" "p.(Ser275PhefsTer17)" "6" "0000845187" "00025497" "90" "822" "0" "822" "0" "c.822G>Y" "r.(?)" "p.(Glu274Asp)" "" "0000850883" "00025497" "50" "1207" "0" "1207" "0" "c.1207T>A" "r.(?)" "p.(Ser403Thr)" "" "0000859897" "00025497" "30" "350" "0" "350" "0" "c.350C>T" "r.(?)" "p.(Ala117Val)" "" "0000912302" "00025497" "30" "1245" "0" "1245" "0" "c.1245G>A" "r.(?)" "p.(Arg415=)" "" "0000919618" "00025497" "50" "1156" "0" "1156" "0" "c.1156C>G" "r.(?)" "p.(Leu386Val)" "" "0000963584" "00025497" "90" "673" "1" "673" "1" "c.673+1G>T" "r.spl?" "p.?" "" "0000976756" "00025497" "50" "962" "0" "962" "0" "c.962G>A" "r.(?)" "p.(Arg321His)" "" "0000994957" "00025497" "30" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Val153Ile)" "" "0001035145" "00025497" "50" "431" "0" "431" "0" "c.431T>A" "r.(?)" "p.(Val144Asp)" "" "0001035146" "00025497" "90" "823" "0" "824" "0" "c.823_824del" "r.(?)" "p.(Ser275Phefs*17)" "" "0001035147" "00025497" "30" "924" "0" "924" "0" "c.924G>A" "r.(?)" "p.(Ala308=)" "" "0001035148" "00025497" "30" "12785" "0" "12785" "0" "c.*11462T>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000147935" "0000241204" "0000147936" "0000241205" "0000147937" "0000241206" "0000147938" "0000241207" "0000147939" "0000241208" "0000147940" "0000241209" "0000290312" "0000646964" "0000290313" "0000646966" "0000294999" "0000651688" "0000295000" "0000651689" "0000375706" "0000787057" "0000375707" "0000787058" "0000408293" "0000845187" "0000433967" "0000919618"