### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ASAH1) # 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}}" "ASAH1" "N-acylsphingosine amidohydrolase (acid ceramidase) 1" "8" "p22" "unknown" "NG_008985.2" "UD_132084553478" "" "https://www.LOVD.nl/ASAH1" "" "1" "735" "427" "613468" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/ASAH1_codingDNA.html" "1" "" "This database is one of the gene variant databases from the \"Leiden Muscular Dystrophy pages\" (LMDp)" "-1" "" "-1" "00001" "2012-04-29 00:00:00" "00006" "2019-01-20 12:50:17" "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}}" "00002936" "ASAH1" "transcript variant 2" "001" "NM_004315.4" "" "NP_004306.3" "" "" "" "-197" "2354" "1236" "17942507" "17913925" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01452" "SMAPME" "atrophy, muscular, spinal, with progressive myoclonic epilepsy (SMAPME)" "AR" "159950" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01783" "FRBRL" "Farber lipogranulomatosis (FRBRL)" "AR" "228000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-05-17 09:47:42" "03139" "EPM1B" "epilepsy, progressive myoclonic, type 1B (EPM1B)" "AR" "612437" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-03-02 12:20:06" "05123" "SMA" "atrophy, muscular, spinal (SMA)" "" "" "" "" "" "00006" "2016-01-24 01:41:54" "" "" "05315" "epilepsy, Rolandic" "epilepsy, Rolandic" "" "" "" "" "" "00006" "2017-08-11 13:02:50" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ASAH1" "01452" "ASAH1" "01783" ## Individuals ## Do not remove or alter this header ## ## Count = 41 "{{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}}" "00057784" "" "" "" "1" "" "00006" "{PMID:Zhou 2012:22703880}" "2-generation family, affected child" "F" "no" "Italy" "" "0" "" "" "" "" "00057785" "" "" "" "1" "" "00006" "{PMID:Zhou 2012:22703880}" "2-generation family, unaffected father" "M" "no" "Italy" "" "0" "" "" "" "" "00057786" "" "" "" "2" "" "01246" "" "family, 2 patients" "F" "yes" "Pakistan" ">30y" "0" "" "" "Pakistan" "" "00057787" "" "" "" "1" "" "00006" "{PMID:Zhou 2012:22703880}" "4-generation family, 3 affecteds" "M" "yes" "Turkey" "13y" "0" "" "" "" "" "00057788" "" "" "" "1" "" "00006" "{PMID:Zhou 2012:22703880}" "4-generation family, 3 affecteds" "F" "yes" "Turkey" "17y" "0" "" "" "" "" "00057789" "" "" "" "1" "" "00006" "{PMID:Zhou 2012:22703880}" "4-generation family, 3 affecteds" "F" "yes" "Turkey" "17y" "0" "" "" "" "" "00057790" "" "" "" "1" "" "00006" "{PMID:Zhou 2012:22703880}" "2-generation family, 2 affecteds" "F" "no" "Italy" ">17y" "0" "" "" "" "" "00057791" "" "" "" "1" "" "00006" "{PMID:Zhou 2012:22703880}" "2-generation family, 2 affecteds" "F" "no" "Italy" ">17y" "0" "" "" "" "" "00057792" "" "" "" "2" "" "00006" "{PMID:Zhou 2012:22703880}" "4-generation family, unaffected carrier parents" "" "yes" "Turkey" "" "0" "" "" "" "" "00057793" "" "" "" "1" "" "00006" "{PMID:Zhou 2012:22703880}" "2-generation family, unaffected carrier parents" "" "no" "Italy" "" "0" "" "" "" "" "00057794" "" "" "" "1" "" "00006" "{PMID:Zhou 2012:22703880}" "2-generation family, unaffected mother" "F" "no" "Italy" "" "0" "" "" "" "" "00081021" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00116818" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_13:0/1:CONTROL" "00116833" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_156:0/1:CONTROL" "00116834" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_158:0/1:CONTROL" "00116836" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_165:0/1:CONTROL" "00116854" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_2:0/1:CONTROL" "00116880" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_265:0/1:CONTROL" "00116889" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_279:0/1:CONTROL" "00116890" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_280:0/1:CONTROL" "00116934" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_382:0/1:CONTROL" "00116952" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_429:0/1:CONTROL" "00116958" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_446:0/1:CONTROL" "00117000" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_527:0/1:CONTROL" "00117013" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_562:0/1:CONTROL" "00117029" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_583:0/1:TYPICAL_RE" "00117065" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_651:0/1:TYPICAL_RE" "00117067" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_654:0/1:TYPICAL_RE" "00117114" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_755:0/1:TYPICAL_RE" "00163649" "" "" "" "1" "" "02439" "" "" "F" "no" "" "" "0" "" "" "" "van der Beek EJHG 2018" "00240408" "" "" "" "1" "" "00006" "{PMID:Kernohan 2017:28251733}, {PMID:Fresard 2019:31160820}" "" "M" "no" "Canada" "" "0" "" "" "" "patient" "00294605" "" "" "" "251" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294606" "" "" "" "22" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294607" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00301342" "" "" "" "1" "" "03676" "" "" "M" "yes" "(Egypt)" "01y07m" "0" "" "" "" "" "00301411" "" "" "" "1" "" "03676" "" "" "F" "yes" "(Egypt)" ">10y" "0" "" "" "" "" "00301412" "" "" "" "1" "" "03676" "" "" "M" "yes" "(Egypt)" "02y10m" "0" "" "" "" "" "00305187" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00334911" "" "" "" "1" "" "03286" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "M" "no" "Australia" "" "0" "" "" "" "PME9" "00359554" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "177165" "00456265" "" "" "" "1" "" "00006" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "M" "" "Spain" "" "0" "" "" "" "Pat43" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 41 "{{individualid}}" "{{diseaseid}}" "00057784" "01452" "00057785" "00000" "00057786" "05123" "00057787" "01452" "00057788" "01452" "00057789" "01452" "00057790" "01452" "00057791" "01452" "00057792" "00000" "00057793" "00000" "00057794" "00000" "00081021" "01783" "00116818" "00000" "00116833" "00000" "00116834" "00000" "00116836" "00000" "00116854" "00000" "00116880" "00000" "00116889" "00000" "00116890" "00000" "00116934" "00000" "00116952" "00000" "00116958" "00000" "00117000" "00000" "00117013" "00000" "00117029" "05315" "00117065" "05315" "00117067" "05315" "00117114" "05315" "00163649" "01452" "00240408" "05123" "00294605" "00198" "00294606" "00198" "00294607" "00198" "00301342" "01783" "00301411" "03139" "00301412" "01452" "00305187" "00198" "00334911" "01452" "00359554" "01452" "00456265" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01452, 01783, 03139, 05123, 05315 ## Count = 21 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000044435" "01452" "00057784" "00006" "Isolated (sporadic)" "" "normal early development, progressive muscle weakness; 10y-brief episodes unconsciousness, myoclonic jerks; 11y-diffuse muscle atrophy" "5y" "" "muscle weakness" "" "" "" "" "" "" "" "" "0000044436" "00000" "00057785" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044437" "05123" "00057786" "01246" "Familial, autosomal recessive" "" "no death in teenage years, no myoclonic epilepsy, no serious pulmonary involvement; CPK: normal; waddling gait, limb weakness" "03y" "30y" "" "" "" "" "" "" "" "" "" "0000044438" "01452" "00057787" "00006" "Isolated (sporadic)" "" "proximal weakness, muscular atrophy; EMG chronic denervation; 7y-brief myoclonic seizures; CPK: normal; w14m" "5y" "" "walking difficulties, frequent falls, tremor hands" "" "" "" "" "" "" "" "" "0000044439" "01452" "00057788" "00006" "Isolated (sporadic)" "" "myoclonic epilepsy, muscle weakness from chronic denervation; CPK: normal" "" "" "" "" "" "" "" "" "" "" "" "0000044440" "01452" "00057789" "00006" "Isolated (sporadic)" "" "myoclonic epilepsy, muscle weakness from chronic denervation; CPK: normal" "" "" "" "" "" "" "" "" "" "" "" "0000044441" "01452" "00057790" "00006" "Isolated (sporadic)" "" "normal motor/intellectual milestones, progressive muscle weakness (lower then upper limbs); 12y-generalized epileptic seizures, numerous brief episodes unconsciousness, myoclonic jerks" "4y" "" "muscle weakness" "" "" "" "" "" "" "" "" "0000044442" "01452" "00057791" "00006" "Isolated (sporadic)" "" "normal motor/intellectual milestones, progressive muscle weakness (lower then upper limbs); 12y-generalized epileptic seizures, numerous brief episodes unconsciousness, myoclonic jerks" "5y" "" "muscle weakness" "" "" "" "" "" "" "" "" "0000044443" "00000" "00057792" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044444" "00000" "00057793" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044445" "00000" "00057794" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060590" "01783" "00081021" "01758" "Familial, autosomal recessive" "" "Farber lipogranulomatosis (OMIM:228000)" "" "" "" "" "" "" "" "" "" "" "" "0000092300" "05315" "00117029" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000092328" "05315" "00117065" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000092330" "05315" "00117067" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000092369" "05315" "00117114" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000128881" "01452" "00163649" "02439" "Familial, autosomal recessive" "24y" "" "" "" "" "" "" "" "" "" "" "" "" "0000180472" "05123" "00240408" "00006" "Familial, autosomal recessive" "" "see paper; ..., sporadic and atypical form of spinal muscular atrophy" "" "" "" "" "" "" "" "" "" "atypical spinal muscular atrophy" "" "0000254808" "01452" "00359554" "01164" "Familial, autosomal recessive" "04y" "(+) Ataxia,(+) Global developmental delay,(+) Profound global developmental delay,(+) Epileptic encephalopathy,(+) Akathisia" "" "" "" "" "" "" "" "" "" "" "" "0000257428" "01452" "00334911" "00006" "Familial, autosomal recessive" "" "Onset age 10 of multifocal action and rest myoclonus, on a background of normal development and early severe hearing impairment (4y) . Subsequent progressive limb and bulbar weakness, tonic-clonic seiures (16 yr) and late cognitive decline. Rapidly progressive, death age 19." "" "" "" "" "" "" "" "" "" "Unverricht-Lundborg disease like" "" "0000344784" "00198" "00456265" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "lysosomal storage disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 41 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000057745" "00057784" "1" "00006" "00006" "2012-10-28 10:09:38" "" "" "arraySNP;PCRq;RT-PCR;SEQ" "DNA;RNA" "" "" "0000057746" "00057785" "1" "00006" "00006" "2012-10-28 10:09:38" "" "" "arraySNP;PCRq;RT-PCR;SEQ" "DNA;RNA" "" "" "0000057747" "00057786" "1" "01246" "00006" "2016-01-21 15:08:09" "00006" "2016-01-24 09:30:15" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000057748" "00057787" "1" "00006" "00006" "2012-10-28 10:09:38" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000057749" "00057788" "1" "00006" "00006" "2012-10-28 10:09:38" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000057750" "00057789" "1" "00006" "00006" "2012-10-28 10:09:38" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000057751" "00057790" "1" "00006" "00006" "2012-10-28 10:09:38" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000057752" "00057791" "1" "00006" "00006" "2012-10-28 10:09:38" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000057753" "00057792" "1" "00006" "00006" "2012-10-28 10:09:38" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000057754" "00057793" "1" "00006" "00006" "2012-10-28 10:09:38" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000057755" "00057794" "1" "00006" "00006" "2012-10-28 10:09:38" "" "" "arraySNP;PCRq;RT-PCR;SEQ" "DNA;RNA" "" "" "0000081133" "00081021" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000117286" "00116818" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117301" "00116833" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117302" "00116834" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117304" "00116836" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117322" "00116854" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117348" "00116880" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117357" "00116889" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117358" "00116890" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117402" "00116934" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117420" "00116952" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117426" "00116958" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117468" "00117000" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117481" "00117013" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117511" "00117029" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117539" "00117065" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117541" "00117067" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117580" "00117114" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000164514" "00163649" "1" "02439" "02439" "2018-04-03 14:32:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000241518" "00240408" "1" "00006" "00006" "2019-06-19 19:30:19" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000295773" "00294605" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295774" "00294606" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295775" "00294607" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000302466" "00301342" "1" "03676" "03676" "2020-05-15 02:20:36" "" "" "SEQ-NG-I" "DNA;RNA" "" "112/112 reads" "0000302532" "00301411" "1" "03676" "03676" "2020-05-15 13:26:23" "" "" "SEQ" "DNA" "" "" "0000302533" "00301412" "1" "03676" "03676" "2020-05-15 13:40:20" "" "" "SEQ" "DNA" "" "" "0000306316" "00305187" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000336140" "00334911" "1" "03286" "03286" "2021-03-02 12:53:54" "00006" "2021-04-14 09:22:08" "SEQ;SEQ-NG" "DNA" "WES trio" "" "0000360782" "00359554" "1" "01164" "01164" "2021-03-25 10:24:57" "" "" "SEQ-NG-I" "DNA" "" "" "0000457882" "00456265" "1" "00006" "00006" "2024-10-24 08:52:57" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{geneid}}" "0000057745" "ASAH1" "0000057746" "ASAH1" "0000057747" "ASAH1" "0000057748" "ASAH1" "0000057749" "ASAH1" "0000057750" "ASAH1" "0000057751" "ASAH1" "0000057752" "ASAH1" "0000057753" "ASAH1" "0000057754" "ASAH1" "0000057755" "ASAH1" "0000081133" "ASAH1" "0000164514" "ASAH1" "0000241518" "ASAH1" "0000302466" "ASAH1" "0000302532" "ASAH1" "0000302533" "ASAH1" "0000360782" "ASAH1" ## 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 = 130 "{{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}}" "0000088039" "11" "90" "8" "17913925" "17942507" "del" "0" "00006" "ASAH1_000002" "g.(?_17913925)_(17942507_?)del" "" "{PMID:Zhou 2012:22703880}" "" "chr8.hg19:g.17,909,063_17,964,559del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000088040" "1" "90" "8" "17913925" "17942507" "del" "0" "00006" "ASAH1_000002" "g.(?_17913925)_(17942507_?)del" "" "{PMID:Zhou 2012:22703880}" "" "chr8.hg19:g.17,909,063_17,964,559del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000088041" "10" "90" "8" "17933051" "17933051" "subst" "1.6245E-5" "01246" "ASAH1_000003" "g.17933051T>C" "" "" "" "" "" "Germline" "yes" "rs779888892" "0" "" "" "g.18075542T>C" "" "pathogenic" "" "0000088042" "11" "90" "8" "17933050" "17933050" "subst" "2.03065E-5" "00006" "ASAH1_000001" "g.17933050G>A" "" "{PMID:Zhou 2012:22703880}" "" "NM_177924.3:c.125C>T (Thr42Met)" "homozygosity mapping, whole exome seq; not in 190 control chromosomes; SMN1 normal" "Germline" "yes" "" "0" "" "" "g.18075541G>A" "" "pathogenic" "" "0000088043" "11" "90" "8" "17933050" "17933050" "subst" "2.03065E-5" "00006" "ASAH1_000001" "g.17933050G>A" "" "{PMID:Zhou 2012:22703880}" "" "NM_177924.3:c.125C>T (Thr42Met)" "homozygosity mapping, whole exome seq; not in 190 control chromosomes; SMN1 normal" "Germline" "yes" "" "0" "" "" "g.18075541G>A" "" "pathogenic" "" "0000088044" "11" "90" "8" "17933050" "17933050" "subst" "2.03065E-5" "00006" "ASAH1_000001" "g.17933050G>A" "" "{PMID:Zhou 2012:22703880}" "" "NM_177924.3:c.125C>T (Thr42Met)" "homozygosity mapping, whole exome seq; not in 190 control chromosomes; SMN1 normal" "Germline" "yes" "" "0" "" "" "g.18075541G>A" "" "pathogenic" "" "0000088045" "11" "90" "8" "17933050" "17933050" "subst" "2.03065E-5" "00006" "ASAH1_000001" "g.17933050G>A" "" "{PMID:Zhou 2012:22703880}" "" "NM_177924.3:c.125C>T (Thr42Met)" "" "Germline" "yes" "" "0" "" "" "g.18075541G>A" "" "pathogenic" "" "0000088046" "11" "90" "8" "17933050" "17933050" "subst" "2.03065E-5" "00006" "ASAH1_000001" "g.17933050G>A" "" "{PMID:Zhou 2012:22703880}" "" "NM_177924.3:c.125C>T (Thr42Met)" "" "Germline" "yes" "" "0" "" "" "g.18075541G>A" "" "pathogenic" "" "0000088047" "1" "11" "8" "17933050" "17933050" "subst" "2.03065E-5" "00006" "ASAH1_000001" "g.17933050G>A" "" "{PMID:Zhou 2012:22703880}" "" "NM_177924.3:c.125C>T (Thr42Met)" "" "Germline" "yes" "" "0" "" "" "g.18075541G>A" "" "benign" "" "0000088048" "1" "90" "8" "17933050" "17933050" "subst" "2.03065E-5" "00006" "ASAH1_000001" "g.17933050G>A" "" "{PMID:Zhou 2012:22703880}" "" "NM_177924.3:c.125C>T (Thr42Met)" "" "Germline" "yes" "" "0" "" "" "g.18075541G>A" "" "pathogenic" "" "0000088049" "1" "90" "8" "17933050" "17933050" "subst" "2.03065E-5" "00006" "ASAH1_000001" "g.17933050G>A" "" "{PMID:Zhou 2012:22703880}" "" "NM_177924.3:c.125C>T (Thr42Met)" "" "Germline" "yes" "" "0" "" "" "g.18075541G>A" "" "pathogenic" "" "0000088143" "20" "90" "8" "17933051" "17933051" "subst" "1.6245E-5" "01246" "ASAH1_000003" "g.17933051T>C" "" "" "" "" "" "Germline" "yes" "rs779888892" "0" "" "" "g.18075542T>C" "" "pathogenic" "" "0000088144" "21" "90" "8" "17933050" "17933050" "subst" "2.03065E-5" "00006" "ASAH1_000001" "g.17933050G>A" "" "{PMID:Zhou 2012:22703880}" "" "NM_177924.3:c.125C>T (Thr42Met)" "homozygosity mapping, whole exome seq; not in 190 control chromosomes; SMN1 normal" "Germline" "yes" "" "0" "" "" "g.18075541G>A" "" "pathogenic" "" "0000088145" "21" "90" "8" "17933050" "17933050" "subst" "2.03065E-5" "00006" "ASAH1_000001" "g.17933050G>A" "" "{PMID:Zhou 2012:22703880}" "" "NM_177924.3:c.125C>T (Thr42Met)" "homozygosity mapping, whole exome seq; not in 190 control chromosomes; SMN1 normal" "Germline" "yes" "" "0" "" "" "g.18075541G>A" "" "pathogenic" "" "0000088146" "21" "90" "8" "17933050" "17933050" "subst" "2.03065E-5" "00006" "ASAH1_000001" "g.17933050G>A" "" "{PMID:Zhou 2012:22703880}" "" "NM_177924.3:c.125C>T (Thr42Met)" "homozygosity mapping, whole exome seq; not in 190 control chromosomes; SMN1 normal" "Germline" "yes" "" "0" "" "" "g.18075541G>A" "" "pathogenic" "" "0000088147" "21" "90" "8" "17933050" "17933050" "subst" "2.03065E-5" "00006" "ASAH1_000001" "g.17933050G>A" "" "{PMID:Zhou 2012:22703880}" "" "NM_177924.3:c.125C>T (Thr42Met)" "" "Germline" "yes" "" "0" "" "" "g.18075541G>A" "" "pathogenic" "" "0000088148" "21" "90" "8" "17933050" "17933050" "subst" "2.03065E-5" "00006" "ASAH1_000001" "g.17933050G>A" "" "{PMID:Zhou 2012:22703880}" "" "NM_177924.3:c.125C>T (Thr42Met)" "" "Germline" "yes" "" "0" "" "" "g.18075541G>A" "" "pathogenic" "" "0000088149" "21" "90" "8" "17933050" "17933050" "subst" "2.03065E-5" "00006" "ASAH1_000001" "g.17933050G>A" "" "{PMID:Zhou 2012:22703880}" "" "NM_177924.3:c.125C>T (Thr42Met)" "" "Germline" "yes" "" "0" "" "" "g.18075541G>A" "" "pathogenic" "" "0000088161" "0" "90" "8" "17933050" "17933050" "subst" "2.03065E-5" "00006" "ASAH1_000001" "g.17933050G>A" "" "{PMID:Zhou 2012:22703880}" "" "" "expression cloningFarber patient fibroblasts, acid-ceramidase activity 0.32, able to normalize ceramide levels" "In vitro (cloned)" "-" "" "0" "" "" "g.18075541G>A" "" "NA" "" "0000088162" "0" "90" "8" "17933050" "17933050" "subst" "2.03065E-5" "00006" "ASAH1_000001" "g.17933050G>A" "" "{PMID:Zhou 2012:22703880}" "" "" "zebra fish morpholino marked loss motor-neuron axonal branching, increased apoptosis spinal cord" "In vitro (cloned)" "-" "" "0" "" "" "g.18075541G>A" "" "NA" "" "0000130219" "3" "90" "8" "17916894" "17916894" "subst" "5.68574E-5" "01758" "ASAH1_000004" "g.17916894G>C" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.18059385G>C" "" "pathogenic" "ACMG" "0000188131" "0" "50" "8" "17916887" "17916887" "subst" "0.000877207" "02192" "ASAH1_000008" "g.17916887G>A" "4/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs147233112" "0" "" "" "g.18059378G>A" "" "VUS" "" "0000188167" "0" "50" "8" "17915126" "17915126" "subst" "0.00863009" "02192" "ASAH1_000006" "g.17915126C>T" "2/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs17636067" "0" "" "" "g.18057617C>T" "" "VUS" "" "0000188193" "0" "50" "8" "17919936" "17919936" "subst" "0.000264114" "02192" "ASAH1_000011" "g.17919936T>C" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs138920776" "0" "" "" "g.18062427T>C" "" "VUS" "" "0000188202" "0" "50" "8" "17915126" "17915126" "subst" "0.00863009" "02192" "ASAH1_000006" "g.17915126C>T" "2/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs17636067" "0" "" "" "g.18057617C>T" "" "VUS" "" "0000188203" "0" "50" "8" "17919807" "17919807" "subst" "0.000824466" "02192" "ASAH1_000009" "g.17919807A>G" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs141068211" "0" "" "" "g.18062298A>G" "" "VUS" "" "0000188247" "0" "50" "8" "17916378" "17916378" "subst" "0" "02192" "ASAH1_000007" "g.17916378T>C" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.18058869T>C" "" "VUS" "" "0000188265" "0" "50" "8" "17916887" "17916887" "subst" "0.000877207" "02192" "ASAH1_000008" "g.17916887G>A" "4/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs147233112" "0" "" "" "g.18059378G>A" "" "VUS" "" "0000188271" "0" "50" "8" "17915062" "17915062" "subst" "8.12539E-6" "02192" "ASAH1_000005" "g.17915062T>C" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs373012279" "0" "" "" "g.18057553T>C" "" "VUS" "" "0000188342" "0" "50" "8" "17942276" "17942276" "subst" "0.00134357" "02192" "ASAH1_000012" "g.17942276C>G" "2/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs147896487" "0" "" "" "g.18084767C>G" "" "VUS" "" "0000188378" "0" "50" "8" "17919807" "17919807" "subst" "0.000824466" "02192" "ASAH1_000009" "g.17919807A>G" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs141068211" "0" "" "" "g.18062298A>G" "" "VUS" "" "0000188380" "0" "50" "8" "17942276" "17942276" "subst" "0.00134357" "02192" "ASAH1_000012" "g.17942276C>G" "2/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs147896487" "0" "" "" "g.18084767C>G" "" "VUS" "" "0000188449" "0" "50" "8" "17919816" "17919816" "subst" "0.000345209" "02192" "ASAH1_000010" "g.17919816T>A" "3/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs150268016" "0" "" "" "g.18062307T>A" "" "VUS" "" "0000188450" "0" "50" "8" "17919816" "17919816" "subst" "0.000345209" "02192" "ASAH1_000010" "g.17919816T>A" "3/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs150268016" "0" "" "" "g.18062307T>A" "" "VUS" "" "0000188451" "0" "50" "8" "17919816" "17919816" "subst" "0.000345209" "02192" "ASAH1_000010" "g.17919816T>A" "3/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs150268016" "0" "" "" "g.18062307T>A" "" "VUS" "" "0000188500" "0" "50" "8" "17916887" "17916887" "subst" "0.000877207" "02192" "ASAH1_000008" "g.17916887G>A" "4/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs147233112" "0" "" "" "g.18059378G>A" "" "VUS" "" "0000188509" "0" "50" "8" "17916887" "17916887" "subst" "0.000877207" "02192" "ASAH1_000008" "g.17916887G>A" "4/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs147233112" "0" "" "" "g.18059378G>A" "" "VUS" "" "0000188549" "0" "50" "8" "17919816" "17919816" "subst" "0.000345209" "02192" "ASAH1_000010" "g.17919816T>A" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs150268016" "0" "" "" "g.18062307T>A" "" "VUS" "" "0000246672" "0" "10" "8" "17924739" "17924739" "subst" "0.0392419" "02330" "ASAH1_000036" "g.17924739A>T" "" "" "" "ASAH1(NM_004315.6):c.420T>A (p.D140E), ASAH1(NM_177924.5):c.372T>A (p.D124E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18067230A>T" "" "benign" "" "0000246676" "0" "10" "8" "17918934" "17918934" "subst" "0.949504" "02330" "ASAH1_000030" "g.17918934A>G" "" "" "" "ASAH1(NM_177924.5):c.737T>C (p.V246A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18061425A>G" "" "benign" "" "0000246720" "0" "10" "8" "17918986" "17918986" "subst" "0.282156" "02330" "ASAH1_000016" "g.17918986A>G" "" "" "" "ASAH1(NM_177924.5):c.704-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18061477A>G" "" "benign" "" "0000246763" "0" "50" "8" "17942210" "17942210" "subst" "0.000339532" "02330" "ASAH1_000042" "g.17942210A>G" "" "" "" "ASAH1(NM_004315.6):c.101T>C (p.F34S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18084701A>G" "" "VUS" "" "0000248420" "0" "10" "8" "17918934" "17918934" "subst" "0.949504" "02325" "ASAH1_000030" "g.17918934A>G" "" "" "" "ASAH1(NM_177924.5):c.737T>C (p.V246A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18061425A>G" "" "benign" "" "0000250960" "0" "10" "8" "17924739" "17924739" "subst" "0.0392419" "02326" "ASAH1_000036" "g.17924739A>T" "" "" "" "ASAH1(NM_004315.6):c.420T>A (p.D140E), ASAH1(NM_177924.5):c.372T>A (p.D124E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18067230A>T" "" "benign" "" "0000251411" "0" "10" "8" "17914881" "17914881" "del" "0" "02326" "ASAH1_000013" "g.17914881del" "" "" "" "ASAH1(NM_004315.6):c.*171delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18057372del" "" "benign" "" "0000251412" "0" "10" "8" "17921961" "17921961" "subst" "0" "02326" "ASAH1_000018" "g.17921961A>G" "" "" "" "ASAH1(NM_004315.6):c.505+5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18064452A>G" "" "benign" "" "0000251413" "0" "10" "8" "17942134" "17942134" "subst" "0.0388608" "02326" "ASAH1_000040" "g.17942134A>G" "" "" "" "ASAH1(NM_004315.6):c.126+51T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18084625A>G" "" "benign" "" "0000251414" "0" "10" "8" "17942332" "17942332" "subst" "0.0386001" "02326" "ASAH1_000044" "g.17942332A>G" "" "" "" "ASAH1(NM_004315.6):c.-22T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18084823A>G" "" "benign" "" "0000251415" "0" "10" "8" "17942427" "17942427" "subst" "0" "02326" "ASAH1_000027" "g.17942427A>T" "" "" "" "ASAH1(NM_004315.6):c.-117T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18084918A>T" "" "benign" "" "0000252159" "0" "30" "8" "17932853" "17932853" "subst" "0" "02326" "ASAH1_000038" "g.17932853A>G" "" "" "" "ASAH1(NM_004315.6):c.173+197T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18075344A>G" "" "likely benign" "" "0000258358" "0" "50" "8" "17916887" "17916887" "subst" "0.000877207" "02330" "ASAH1_000008" "g.17916887G>A" "" "" "" "ASAH1(NM_177924.5):c.1004C>T (p.T335M, p.(Thr335Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18059378G>A" "" "VUS" "" "0000258359" "0" "10" "8" "17942204" "17942204" "subst" "0.0491591" "02330" "ASAH1_000041" "g.17942204C>T" "" "" "" "ASAH1(NM_004315.6):c.107G>A (p.S36N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18084695C>T" "" "benign" "" "0000258360" "0" "10" "8" "17930772" "17930772" "subst" "0.470758" "02330" "ASAH1_000026" "g.17930772C>T" "" "" "" "ASAH1(NM_001127505.3):c.187G>A (p.V63I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18073263C>T" "" "benign" "" "0000258361" "0" "10" "8" "17928811" "17928811" "subst" "0.488339" "02330" "ASAH1_000024" "g.17928811C>T" "" "" "" "ASAH1(NM_177924.5):c.214G>A (p.V72M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18071302C>T" "" "benign" "" "0000258362" "0" "10" "8" "17927280" "17927280" "subst" "0.417883" "02330" "ASAH1_000020" "g.17927280G>T" "" "" "" "ASAH1(NM_177924.5):c.303+21C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18069771G>T" "" "benign" "" "0000258363" "0" "10" "8" "17927294" "17927294" "subst" "0.487596" "02330" "ASAH1_000037" "g.17927294C>T" "" "" "" "ASAH1(NM_177924.5):c.303+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18069785C>T" "" "benign" "" "0000258364" "0" "10" "8" "17924719" "17924719" "subst" "0.000528316" "02330" "ASAH1_000035" "g.17924719T>C" "" "" "" "ASAH1(NM_004315.6):c.430+10A>G, ASAH1(NM_177924.5):c.382+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18067210T>C" "" "benign" "" "0000258365" "0" "50" "8" "17919816" "17919816" "subst" "0.000345209" "02330" "ASAH1_000010" "g.17919816T>A" "" "" "" "ASAH1(NM_177924.5):c.620A>T (p.Y207F, p.(Tyr207Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18062307T>A" "" "VUS" "" "0000258366" "0" "10" "8" "17918873" "17918873" "subst" "4.46991E-5" "02330" "ASAH1_000015" "g.17918873C>T" "" "" "" "ASAH1(NM_177924.5):c.785+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18061364C>T" "" "benign" "" "0000258367" "0" "10" "8" "17933099" "17933099" "subst" "0.107504" "02330" "ASAH1_000039" "g.17933099G>A" "" "" "" "ASAH1(NM_177924.5):c.79-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18075590G>A" "" "benign" "" "0000258799" "0" "10" "8" "17930772" "17930772" "subst" "0.470758" "02325" "ASAH1_000026" "g.17930772C>T" "" "" "" "ASAH1(NM_001127505.3):c.187G>A (p.V63I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18073263C>T" "" "benign" "" "0000258800" "0" "10" "8" "17928811" "17928811" "subst" "0.488339" "02325" "ASAH1_000024" "g.17928811C>T" "" "" "" "ASAH1(NM_177924.5):c.214G>A (p.V72M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18071302C>T" "" "benign" "" "0000258801" "0" "10" "8" "17927294" "17927294" "subst" "0.487596" "02325" "ASAH1_000037" "g.17927294C>T" "" "" "" "ASAH1(NM_177924.5):c.303+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18069785C>T" "" "benign" "" "0000259600" "0" "50" "8" "17919816" "17919816" "subst" "0.000345209" "02325" "ASAH1_000010" "g.17919816T>A" "" "" "" "ASAH1(NM_177924.5):c.620A>T (p.Y207F, p.(Tyr207Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18062307T>A" "" "VUS" "" "0000261109" "0" "10" "8" "17915190" "17915190" "subst" "0" "02326" "ASAH1_000014" "g.17915190T>C" "" "" "" "ASAH1(NM_004315.6):c.1147-58A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18057681T>C" "" "benign" "" "0000261110" "0" "10" "8" "17929024" "17929024" "subst" "0" "02326" "ASAH1_000025" "g.17929024C>A" "" "" "" "ASAH1(NM_004315.6):c.174-125G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18071515C>A" "" "benign" "" "0000261112" "0" "10" "8" "17927463" "17927463" "subst" "0" "02326" "ASAH1_000021" "g.17927463T>A" "" "" "" "ASAH1(NM_004315.6):c.265-76A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18069954T>A" "" "benign" "" "0000261113" "0" "30" "8" "17927474" "17927474" "subst" "0" "02326" "ASAH1_000022" "g.17927474G>C" "" "" "" "ASAH1(NM_004315.6):c.265-87C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18069965G>C" "" "likely benign" "" "0000261114" "0" "30" "8" "17927213" "17927213" "subst" "0" "02326" "ASAH1_000019" "g.17927213C>T" "" "" "" "ASAH1(NM_004315.6):c.351+88G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18069704C>T" "" "likely benign" "" "0000261115" "0" "30" "8" "17942276" "17942276" "subst" "0.00134357" "02326" "ASAH1_000012" "g.17942276C>G" "" "" "" "ASAH1(NM_004315.6):c.35G>C (p.R12P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18084767C>G" "" "likely benign" "" "0000261116" "0" "30" "8" "17924719" "17924719" "subst" "0.000528316" "02326" "ASAH1_000035" "g.17924719T>C" "" "" "" "ASAH1(NM_004315.6):c.430+10A>G, ASAH1(NM_177924.5):c.382+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18067210T>C" "" "likely benign" "" "0000261118" "0" "10" "8" "17924706" "17924706" "del" "0" "02326" "ASAH1_000034" "g.17924706del" "" "" "" "ASAH1(NM_004315.6):c.430+32delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18067197del" "" "benign" "" "0000261119" "0" "30" "8" "17924670" "17924670" "subst" "0" "02326" "ASAH1_000033" "g.17924670T>C" "" "" "" "ASAH1(NM_004315.6):c.430+59A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18067161T>C" "" "likely benign" "" "0000261120" "0" "10" "8" "17924645" "17924645" "subst" "0" "02326" "ASAH1_000032" "g.17924645G>T" "" "" "" "ASAH1(NM_004315.6):c.430+84C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18067136G>T" "" "benign" "" "0000261121" "0" "30" "8" "17920821" "17920825" "del" "0" "02326" "ASAH1_000017" "g.17920821_17920825del" "" "" "" "ASAH1(NM_004315.6):c.506-83_506-79delATTAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18063312_18063316del" "" "likely benign" "" "0000261122" "0" "30" "8" "17942229" "17942229" "subst" "0.000984381" "02326" "ASAH1_000043" "g.17942229C>T" "" "" "" "ASAH1(NM_004315.6):c.82G>A (p.E28K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18084720C>T" "" "likely benign" "" "0000367730" "21" "90" "8" "17933049" "17933049" "subst" "0" "02439" "ASAH1_000028" "g.17933049C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.18075540C>T" "" "pathogenic" "" "0000367731" "11" "70" "8" "17941491" "17941491" "subst" "0" "02439" "ASAH1_000029" "g.17941491G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.18083982G>C" "" "likely pathogenic" "" "0000487521" "1" "70" "8" "17922013" "17922013" "subst" "2.62463E-5" "00006" "ASAH1_000045" "g.17922013T>C" "" "{PMID:Kernohan 2017:28251733}" "" "" "" "Germline" "" "" "0" "" "" "g.18064504T>C" "" "likely pathogenic" "" "0000487522" "2" "90" "8" "17921967" "17921967" "subst" "5.46788E-5" "00006" "ASAH1_000046" "g.17921967T>G" "" "{PMID:Kernohan 2017:28251733}, {PMID:Fresard 2019:31160820}" "" "" "" "Germline" "" "" "0" "" "" "g.18064458T>G" "" "pathogenic (recessive)" "" "0000534399" "0" "30" "8" "17915126" "17915126" "subst" "0.00863009" "02325" "ASAH1_000006" "g.17915126C>T" "" "" "" "ASAH1(NM_177924.5):c.1105G>A (p.V369I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18057617C>T" "" "likely benign" "" "0000534400" "0" "30" "8" "17919257" "17919257" "subst" "0.00107104" "02326" "ASAH1_000047" "g.17919257A>G" "" "" "" "ASAH1(NM_004315.6):c.697-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18061748A>G" "" "likely benign" "" "0000534401" "0" "50" "8" "17919807" "17919807" "subst" "0.000824466" "02330" "ASAH1_000009" "g.17919807A>G" "" "" "" "ASAH1(NM_177924.5):c.629T>C (p.M210T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18062298A>G" "" "VUS" "" "0000534402" "0" "70" "8" "17919931" "17919931" "subst" "4.06303E-6" "02325" "ASAH1_000048" "g.17919931A>G" "" "" "" "ASAH1(NM_177924.5):c.505T>C (p.W169R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18062422A>G" "" "likely pathogenic" "" "0000534403" "0" "50" "8" "17920703" "17920703" "subst" "4.06871E-6" "02325" "ASAH1_000049" "g.17920703A>G" "" "" "" "ASAH1(NM_177924.5):c.494T>C (p.V165A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18063194A>G" "" "VUS" "" "0000534404" "0" "30" "8" "17924613" "17924614" "ins" "0" "02326" "ASAH1_000050" "g.17924613_17924614insTTTG" "" "" "" "ASAH1(NM_004315.6):c.430+115_430+116insCAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18067104_18067105insTTTG" "" "likely benign" "" "0000534405" "0" "30" "8" "17924614" "17924614" "del" "0" "02326" "ASAH1_000051" "g.17924614del" "" "" "" "ASAH1(NM_004315.6):c.430+116delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18067105del" "" "likely benign" "" "0000534406" "0" "30" "8" "17924803" "17924803" "subst" "0.000178278" "01804" "ASAH1_000052" "g.17924803C>G" "" "" "" "ASAH1(NM_001127505.1):c.290G>C (p.(Gly97Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18067294C>G" "" "likely benign" "" "0000534407" "0" "10" "8" "17927327" "17927327" "subst" "0.490052" "02330" "ASAH1_000053" "g.17927327T>C" "" "" "" "ASAH1(NM_177924.5):c.277A>G (p.I93V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18069818T>C" "" "benign" "" "0000534408" "0" "10" "8" "17927327" "17927327" "subst" "0.490052" "02325" "ASAH1_000053" "g.17927327T>C" "" "" "" "ASAH1(NM_177924.5):c.277A>G (p.I93V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18069818T>C" "" "benign" "" "0000534409" "0" "30" "8" "17928763" "17928764" "ins" "0" "02326" "ASAH1_000054" "g.17928763_17928764insTAA" "" "" "" "ASAH1(NM_004315.6):c.264+46_264+47insTAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18071254_18071255insTAA" "" "likely benign" "" "0000534410" "0" "30" "8" "17928893" "17928893" "subst" "3.55085E-5" "01943" "ASAH1_000055" "g.17928893T>A" "" "" "" "ASAH1(NM_177924.5):c.132A>T (p.R44S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18071384T>A" "" "likely benign" "" "0000534411" "0" "30" "8" "17933087" "17933087" "subst" "0.000259947" "01804" "ASAH1_000056" "g.17933087C>T" "" "" "" "ASAH1(NM_001127505.1):c.136G>A (p.(Asp46Asn)), ASAH1(NM_177924.5):c.88G>A (p.D30N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18075578C>T" "" "likely benign" "" "0000534412" "0" "50" "8" "17941500" "17941508" "del" "0" "01804" "ASAH1_000057" "g.17941500_17941508del" "" "" "" "ASAH1(NM_177924.3):c.65_73del (p.(Gln22_Ala24del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18083991_18083999del" "" "VUS" "" "0000534414" "0" "50" "8" "17942284" "17942284" "subst" "2.44946E-5" "02330" "ASAH1_000058" "g.17942284C>G" "" "" "" "ASAH1(NM_004315.6):c.27G>C (p.E9D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18084775C>G" "" "VUS" "" "0000611553" "0" "30" "8" "17928842" "17928842" "subst" "0.000310431" "01943" "ASAH1_000059" "g.17928842T>C" "" "" "" "ASAH1(NM_177924.5):c.183A>G (p.R61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18071333T>C" "" "likely benign" "" "0000611554" "0" "30" "8" "17942281" "17942281" "subst" "8.16047E-6" "01943" "ASAH1_000061" "g.17942281T>C" "" "" "" "ASAH1(NM_004315.5):c.30A>G (p.K10=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18084772T>C" "" "likely benign" "" "0000622032" "0" "50" "8" "17942197" "17942203" "del" "0.000336198" "01943" "ASAH1_000060" "g.17942197_17942203del" "" "" "" "ASAH1(NM_004315.5):c.108_114delCTTTGCT (p.S36Rfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18084688_18084694del" "" "VUS" "" "0000652462" "1" "30" "8" "17914843" "17914843" "subst" "0" "03575" "ASAH1_000062" "g.17914843G>A" "251/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "251 heterozygous; {DB:CLININrs71526182}" "Germline" "" "rs71526182" "0" "" "" "g.18057334G>A" "" "likely benign" "" "0000652463" "1" "30" "8" "17915126" "17915126" "subst" "0.00863009" "03575" "ASAH1_000006" "g.17915126C>T" "22/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "22 heterozygous, no homozygous; {DB:CLININrs17636067}" "Germline" "" "rs17636067" "0" "" "" "g.18057617C>T" "" "likely benign" "" "0000652464" "1" "70" "8" "17933050" "17933050" "subst" "2.03065E-5" "03575" "ASAH1_000001" "g.17933050G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs145873635}" "Germline" "" "rs145873635" "0" "" "" "g.18075541G>A" "" "likely pathogenic" "" "0000665755" "3" "90" "8" "17922041" "17927302" "del" "0" "03676" "ASAH1_000063" "g.17922041_17927302del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.18064532_18069793del" "" "pathogenic (recessive)" "" "0000665822" "3" "70" "8" "17915074" "17915074" "subst" "8.12519E-6" "03676" "ASAH1_000064" "g.17915074C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.18057565C>T" "" "likely pathogenic (recessive)" "" "0000665823" "3" "70" "8" "17916364" "17916364" "subst" "0" "03676" "ASAH1_000065" "g.17916364T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.18058855T>C" "" "likely pathogenic (recessive)" "" "0000670004" "3" "30" "8" "17914843" "17914843" "subst" "0" "03575" "ASAH1_000062" "g.17914843G>A" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 homozygous; {DB:CLININrs71526182}" "Germline" "" "rs71526182" "0" "" "" "g.18057334G>A" "" "likely benign" "" "0000678346" "0" "50" "8" "17916887" "17916887" "subst" "0.000877207" "01943" "ASAH1_000008" "g.17916887G>A" "" "" "" "ASAH1(NM_177924.5):c.1004C>T (p.T335M, p.(Thr335Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678347" "0" "50" "8" "17916887" "17916887" "subst" "0.000877207" "02325" "ASAH1_000008" "g.17916887G>A" "" "" "" "ASAH1(NM_177924.5):c.1004C>T (p.T335M, p.(Thr335Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678348" "0" "50" "8" "17924735" "17924735" "subst" "0.000261254" "01943" "ASAH1_000066" "g.17924735G>T" "" "" "" "ASAH1(NM_177924.5):c.376C>A (p.P126T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690216" "0" "50" "8" "17915077" "17915077" "subst" "8.12434E-6" "02325" "ASAH1_000067" "g.17915077A>G" "" "" "" "ASAH1(NM_177924.5):c.1154T>C (p.L385P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690217" "0" "50" "8" "17916894" "17916894" "subst" "5.68574E-5" "01943" "ASAH1_000004" "g.17916894G>C" "" "" "" "ASAH1(NM_177924.5):c.997C>G (p.R333G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690218" "0" "50" "8" "17916894" "17916894" "subst" "5.68574E-5" "02325" "ASAH1_000004" "g.17916894G>C" "" "" "" "ASAH1(NM_177924.5):c.997C>G (p.R333G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690219" "0" "50" "8" "17919816" "17919816" "subst" "0.000345209" "01943" "ASAH1_000010" "g.17919816T>A" "" "" "" "ASAH1(NM_177924.5):c.620A>T (p.Y207F, p.(Tyr207Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690220" "0" "50" "8" "17922011" "17922011" "subst" "0" "01943" "ASAH1_000068" "g.17922011C>T" "" "" "" "ASAH1(NM_177924.5):c.412G>A (p.E138K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721895" "0" "50" "8" "17933087" "17933087" "subst" "0.000259947" "01943" "ASAH1_000056" "g.17933087C>T" "" "" "" "ASAH1(NM_001127505.1):c.136G>A (p.(Asp46Asn)), ASAH1(NM_177924.5):c.88G>A (p.D30N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000735218" "11" "90" "8" "17916975" "17916975" "subst" "0" "03286" "ASAH1_000069" "g.17916975T>C" "" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "" "ACMG PVS1, PM2, PM3, PP3, PP4; The patient\'s electroclinical phenotype is consistent with previous reports of SMA-PME due to pathogenic variants in ASAH1. The parents are not related, consistent with the bi-allelic autosomal recessive inheritance of two rare damaging variants in this established PME gene. Thus, the phenotype is compatible with the genetic finding." "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000735219" "21" "70" "8" "17921967" "17921967" "subst" "5.46788E-5" "03286" "ASAH1_000046" "g.17921967T>G" "" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "" "ACMG PM1, PM2, PM3, PP4, PP5; The patient\'s electroclinical phenotype is consistent with previous reports of SMA-PME due to pathogenic variants in ASAH1. The parents are not related, consistent with the bi-allelic autosomal recessive inheritance of two rare damaging variants in this established PME gene. Thus, the phenotype is compatible with the genetic finding." "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000760890" "3" "70" "8" "17915074" "17915074" "subst" "8.12519E-6" "01164" "ASAH1_000064" "g.17915074C>T" "" "" "" "" "ACMG: Class 4 (PS4_MOD, PM3, PM2_SUP, PP3); Data from Array-CGH are indicative of a genomic deletion of the ASAH1 gene and the PCM1 gene (e.g. compound heterozygous state: deletion and p.R402Q)." "Germline" "?" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000803574" "0" "50" "8" "17919807" "17919807" "subst" "0.000824466" "01943" "ASAH1_000009" "g.17919807A>G" "" "" "" "ASAH1(NM_177924.5):c.629T>C (p.M210T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851875" "0" "50" "8" "17919258" "17919259" "del" "0" "01943" "ASAH1_000070" "g.17919258_17919259del" "" "" "" "ASAH1(NM_177924.5):c.649-7_649-6delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851876" "0" "70" "8" "17920741" "17920741" "subst" "0" "02327" "ASAH1_000071" "g.17920741T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000861155" "0" "30" "8" "17942273" "17942273" "subst" "0.00031844" "01943" "ASAH1_000072" "g.17942273C>T" "" "" "" "ASAH1(NM_004315.5):c.38G>A (p.G13E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978146" "0" "50" "8" "17916887" "17916887" "subst" "0.000877207" "01804" "ASAH1_000008" "g.17916887G>A" "" "" "" "ASAH1(NM_177924.5):c.1004C>T (p.T335M, p.(Thr335Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978147" "0" "50" "8" "17919816" "17919816" "subst" "0.000345209" "01804" "ASAH1_000010" "g.17919816T>A" "" "" "" "ASAH1(NM_177924.5):c.620A>T (p.Y207F, p.(Tyr207Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978148" "0" "30" "8" "17921959" "17921959" "subst" "0.000323946" "01804" "ASAH1_000074" "g.17921959C>T" "" "" "" "ASAH1(NM_177924.5):c.457+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978149" "0" "30" "8" "17924719" "17924719" "subst" "0.000528316" "01804" "ASAH1_000035" "g.17924719T>C" "" "" "" "ASAH1(NM_004315.6):c.430+10A>G, ASAH1(NM_177924.5):c.382+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997081" "0" "50" "8" "17924737" "17924737" "subst" "3.26075E-5" "01804" "ASAH1_000075" "g.17924737A>G" "" "" "" "ASAH1(NM_177924.3):c.374T>C (p.(Ile125Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001012429" "1" "50" "8" "17941566" "17941566" "subst" "0" "00006" "ASAH1_000076" "g.17941566A>G" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "NM_177924:c.2T>C (M1T)" "" "Germline" "" "" "0" "" "" "g.18084057A>G" "" "VUS" "" "0001036894" "0" "50" "8" "17916951" "17916951" "subst" "8.12301E-6" "01804" "ASAH1_000077" "g.17916951A>G" "" "" "" "ASAH1(NM_177924.5):c.940T>C (p.(Trp314Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036895" "0" "50" "8" "17917112" "17917112" "subst" "4.062E-6" "01804" "ASAH1_000078" "g.17917112G>C" "" "" "" "ASAH1(NM_177924.5):c.886C>G (p.(Arg296Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036896" "0" "30" "8" "17918921" "17918921" "subst" "0.00062138" "02326" "ASAH1_000079" "g.17918921C>A" "" "" "" "ASAH1(NM_177924.5):c.750G>T (p.G250=)" "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 ASAH1 ## Count = 130 "{{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}}" "0000088039" "00002936" "90" "-197" "0" "2354" "0" "c.(?_-197)_(*1118_?)del" "r.0" "p.0" "_1_14_" "0000088040" "00002936" "90" "-197" "0" "2354" "0" "c.(?_-197)_(*1118_?)del" "r.0" "p.0" "_1_14_" "0000088041" "00002936" "90" "172" "0" "172" "0" "c.172A>G" "r.172a>g" "p.Thr58Ala" "2" "0000088042" "00002936" "90" "173" "0" "173" "0" "c.173C>T" "r.173c>u" "p.Thr58Met" "2" "0000088043" "00002936" "90" "173" "0" "173" "0" "c.173C>T" "r.173c>u" "p.Thr58Met" "2" "0000088044" "00002936" "90" "173" "0" "173" "0" "c.173C>T" "r.173c>u" "p.Thr58Met" "2" "0000088045" "00002936" "90" "173" "0" "173" "0" "c.173C>T" "r.173c>u" "p.Thr58Met" "2" "0000088046" "00002936" "90" "173" "0" "173" "0" "c.173C>T" "r.173c>u" "p.Thr58Met" "2" "0000088047" "00002936" "11" "173" "0" "173" "0" "c.173C>T" "r.173c>u" "p.Thr58Met" "2" "0000088048" "00002936" "90" "173" "0" "173" "0" "c.173C>T" "r.173c>u" "p.Thr58Met" "2" "0000088049" "00002936" "90" "173" "0" "173" "0" "c.173C>T" "r.173c>u" "p.Thr58Met" "2" "0000088143" "00002936" "90" "172" "0" "172" "0" "c.172A>G" "r.172a>g" "p.Thr58Ala" "2" "0000088144" "00002936" "90" "173" "0" "173" "0" "c.173C>T" "r.173c>u" "p.Thr58Met" "2" "0000088145" "00002936" "90" "173" "0" "173" "0" "c.173C>T" "r.173c>u" "p.Thr58Met" "2" "0000088146" "00002936" "90" "173" "0" "173" "0" "c.173C>T" "r.173c>u" "p.Thr58Met" "2" "0000088147" "00002936" "90" "173" "0" "173" "0" "c.173C>T" "r.173c>u" "p.Thr58Met" "2" "0000088148" "00002936" "90" "173" "0" "173" "0" "c.173C>T" "r.173c>u" "p.Thr58Met" "2" "0000088149" "00002936" "90" "173" "0" "173" "0" "c.173C>T" "r.173c>u" "p.Thr58Met" "2" "0000088161" "00002936" "90" "173" "0" "173" "0" "c.173C>T" "r.173c>u" "p.Thr58Met" "2" "0000088162" "00002936" "90" "173" "0" "173" "0" "c.173C>T" "r.173c>u" "p.Thr58Met" "2" "0000130219" "00002936" "90" "1045" "0" "1045" "0" "c.1045C>G" "r.(?)" "p.(Arg349Gly)" "" "0000188131" "00002936" "00" "1052" "0" "1052" "0" "c.1052C>T" "r.(?)" "p.(Thr351Met)" "" "0000188167" "00002936" "00" "1153" "0" "1153" "0" "c.1153G>A" "r.(?)" "p.(Val385Ile)" "" "0000188193" "00002936" "00" "552" "-4" "552" "-4" "c.552-4A>G" "r.spl?" "p.?" "" "0000188202" "00002936" "00" "1153" "0" "1153" "0" "c.1153G>A" "r.(?)" "p.(Val385Ile)" "" "0000188203" "00002936" "00" "677" "0" "677" "0" "c.677T>C" "r.(?)" "p.(Met226Thr)" "" "0000188247" "00002936" "00" "1112" "0" "1112" "0" "c.1112A>G" "r.(?)" "p.(Tyr371Cys)" "" "0000188265" "00002936" "00" "1052" "0" "1052" "0" "c.1052C>T" "r.(?)" "p.(Thr351Met)" "" "0000188271" "00002936" "00" "1217" "0" "1217" "0" "c.1217A>G" "r.(?)" "p.(Asp406Gly)" "" "0000188342" "00002936" "00" "35" "0" "35" "0" "c.35G>C" "r.(?)" "p.(Arg12Pro)" "" "0000188378" "00002936" "00" "677" "0" "677" "0" "c.677T>C" "r.(?)" "p.(Met226Thr)" "" "0000188380" "00002936" "00" "35" "0" "35" "0" "c.35G>C" "r.(?)" "p.(Arg12Pro)" "" "0000188449" "00002936" "00" "668" "0" "668" "0" "c.668A>T" "r.(?)" "p.(Tyr223Phe)" "" "0000188450" "00002936" "00" "668" "0" "668" "0" "c.668A>T" "r.(?)" "p.(Tyr223Phe)" "" "0000188451" "00002936" "00" "668" "0" "668" "0" "c.668A>T" "r.(?)" "p.(Tyr223Phe)" "" "0000188500" "00002936" "00" "1052" "0" "1052" "0" "c.1052C>T" "r.(?)" "p.(Thr351Met)" "" "0000188509" "00002936" "00" "1052" "0" "1052" "0" "c.1052C>T" "r.(?)" "p.(Thr351Met)" "" "0000188549" "00002936" "00" "668" "0" "668" "0" "c.668A>T" "r.(?)" "p.(Tyr223Phe)" "" "0000246672" "00002936" "10" "420" "0" "420" "0" "c.420T>A" "r.(?)" "p.(Asp140Glu)" "" "0000246676" "00002936" "10" "785" "0" "785" "0" "c.785T>C" "r.(?)" "p.(Val262Ala)" "" "0000246720" "00002936" "10" "752" "-19" "752" "-19" "c.752-19T>C" "r.(=)" "p.(=)" "" "0000246763" "00002936" "50" "101" "0" "101" "0" "c.101T>C" "r.(?)" "p.(Phe34Ser)" "" "0000248420" "00002936" "10" "785" "0" "785" "0" "c.785T>C" "r.(?)" "p.(Val262Ala)" "" "0000250960" "00002936" "10" "420" "0" "420" "0" "c.420T>A" "r.(?)" "p.(Asp140Glu)" "" "0000251411" "00002936" "10" "1407" "0" "1407" "0" "c.*171del" "r.(?)" "p.(=)" "" "0000251412" "00002936" "10" "505" "5" "505" "5" "c.505+5T>C" "r.spl?" "p.?" "" "0000251413" "00002936" "10" "126" "51" "126" "51" "c.126+51T>C" "r.(=)" "p.(=)" "" "0000251414" "00002936" "10" "-22" "0" "-22" "0" "c.-22T>C" "r.(?)" "p.(=)" "" "0000251415" "00002936" "10" "-117" "0" "-117" "0" "c.-117T>A" "r.(?)" "p.(=)" "" "0000252159" "00002936" "30" "173" "197" "173" "197" "c.173+197T>C" "r.(=)" "p.(=)" "" "0000258358" "00002936" "50" "1052" "0" "1052" "0" "c.1052C>T" "r.(?)" "p.(Thr351Met)" "" "0000258359" "00002936" "10" "107" "0" "107" "0" "c.107G>A" "r.(?)" "p.(Ser36Asn)" "" "0000258360" "00002936" "10" "174" "-1873" "174" "-1873" "c.174-1873G>A" "r.(=)" "p.(=)" "" "0000258361" "00002936" "10" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Val88Met)" "" "0000258362" "00002936" "10" "351" "21" "351" "21" "c.351+21C>A" "r.(=)" "p.(=)" "" "0000258363" "00002936" "10" "351" "7" "351" "7" "c.351+7G>A" "r.(=)" "p.(=)" "" "0000258364" "00002936" "10" "430" "10" "430" "10" "c.430+10A>G" "r.(=)" "p.(=)" "" "0000258365" "00002936" "50" "668" "0" "668" "0" "c.668A>T" "r.(?)" "p.(Tyr223Phe)" "" "0000258366" "00002936" "10" "833" "13" "833" "13" "c.833+13G>A" "r.(=)" "p.(=)" "" "0000258367" "00002936" "10" "127" "-3" "127" "-3" "c.127-3C>T" "r.spl?" "p.?" "" "0000258799" "00002936" "10" "174" "-1873" "174" "-1873" "c.174-1873G>A" "r.(=)" "p.(=)" "" "0000258800" "00002936" "10" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Val88Met)" "" "0000258801" "00002936" "10" "351" "7" "351" "7" "c.351+7G>A" "r.(=)" "p.(=)" "" "0000259600" "00002936" "50" "668" "0" "668" "0" "c.668A>T" "r.(?)" "p.(Tyr223Phe)" "" "0000261109" "00002936" "10" "1147" "-58" "1147" "-58" "c.1147-58A>G" "r.(=)" "p.(=)" "" "0000261110" "00002936" "10" "174" "-125" "174" "-125" "c.174-125G>T" "r.(=)" "p.(=)" "" "0000261112" "00002936" "10" "265" "-76" "265" "-76" "c.265-76A>T" "r.(=)" "p.(=)" "" "0000261113" "00002936" "30" "265" "-87" "265" "-87" "c.265-87C>G" "r.(=)" "p.(=)" "" "0000261114" "00002936" "30" "351" "88" "351" "88" "c.351+88G>A" "r.(=)" "p.(=)" "" "0000261115" "00002936" "30" "35" "0" "35" "0" "c.35G>C" "r.(?)" "p.(Arg12Pro)" "" "0000261116" "00002936" "30" "430" "10" "430" "10" "c.430+10A>G" "r.(=)" "p.(=)" "" "0000261118" "00002936" "10" "430" "32" "430" "32" "c.430+32del" "r.(=)" "p.(=)" "" "0000261119" "00002936" "30" "430" "59" "430" "59" "c.430+59A>G" "r.(=)" "p.(=)" "" "0000261120" "00002936" "10" "430" "84" "430" "84" "c.430+84C>A" "r.(=)" "p.(=)" "" "0000261121" "00002936" "30" "506" "-83" "506" "-79" "c.506-83_506-79del" "r.(=)" "p.(=)" "" "0000261122" "00002936" "30" "82" "0" "82" "0" "c.82G>A" "r.(?)" "p.(Glu28Lys)" "" "0000367730" "00002936" "90" "173" "1" "173" "1" "c.173+1G>A" "r.spl" "p.?" "2i" "0000367731" "00002936" "70" "126" "694" "126" "694" "c.126+694C>G" "r.spl?" "p.(=)" "2i" "0000487521" "00002936" "70" "458" "0" "458" "0" "c.458A>G" "r.458a>g" "p.Tyr153Cys" "" "0000487522" "00002936" "90" "504" "0" "504" "0" "c.504A>C" "r.431_505del" "p.Glu145_Gly169del" "" "0000534399" "00002936" "30" "1153" "0" "1153" "0" "c.1153G>A" "r.(?)" "p.(Val385Ile)" "" "0000534400" "00002936" "30" "697" "-8" "697" "-8" "c.697-8T>C" "r.(=)" "p.(=)" "" "0000534401" "00002936" "50" "677" "0" "677" "0" "c.677T>C" "r.(?)" "p.(Met226Thr)" "" "0000534402" "00002936" "70" "553" "0" "553" "0" "c.553T>C" "r.(?)" "p.(Trp185Arg)" "" "0000534403" "00002936" "50" "542" "0" "542" "0" "c.542T>C" "r.(?)" "p.(Val181Ala)" "" "0000534404" "00002936" "30" "430" "115" "430" "116" "c.430+115_430+116insCAAA" "r.(=)" "p.(=)" "" "0000534405" "00002936" "30" "430" "116" "430" "116" "c.430+116del" "r.(=)" "p.(=)" "" "0000534406" "00002936" "30" "356" "0" "356" "0" "c.356G>C" "r.(?)" "p.(Gly119Ala)" "" "0000534407" "00002936" "10" "325" "0" "325" "0" "c.325A>G" "r.(?)" "p.(Ile109Val)" "" "0000534408" "00002936" "10" "325" "0" "325" "0" "c.325A>G" "r.(?)" "p.(Ile109Val)" "" "0000534409" "00002936" "30" "264" "46" "264" "47" "c.264+46_264+47insTAT" "r.(=)" "p.(=)" "" "0000534410" "00002936" "30" "180" "0" "180" "0" "c.180A>T" "r.(?)" "p.(Arg60Ser)" "" "0000534411" "00002936" "30" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Asp46Asn)" "" "0000534412" "00002936" "50" "126" "682" "126" "690" "c.126+682_126+690del" "r.(=)" "p.(=)" "" "0000534414" "00002936" "50" "27" "0" "27" "0" "c.27G>C" "r.(?)" "p.(Glu9Asp)" "" "0000611553" "00002936" "30" "231" "0" "231" "0" "c.231A>G" "r.(?)" "p.(Arg77=)" "" "0000611554" "00002936" "30" "30" "0" "30" "0" "c.30A>G" "r.(?)" "p.(Lys10=)" "" "0000622032" "00002936" "50" "108" "0" "114" "0" "c.108_114del" "r.(?)" "p.(Ser36ArgfsTer2)" "" "0000652462" "00002936" "30" "1436" "0" "1436" "0" "c.*200C>T" "r.(=)" "p.(=)" "" "0000652463" "00002936" "30" "1153" "0" "1153" "0" "c.1153G>A" "r.(?)" "p.(Val385Ile)" "" "0000652464" "00002936" "70" "173" "0" "173" "0" "c.173C>T" "r.(?)" "p.(Thr58Met)" "" "0000665755" "00002936" "90" "350" "0" "431" "-1" "c.350_431-1del" "r.spl" "p.?" "5" "0000665822" "00002936" "70" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Arg402Gln)" "14" "0000665823" "00002936" "70" "1126" "0" "1126" "0" "c.1126A>G" "r.(?)" "p.(Thr376Ala)" "13" "0000670004" "00002936" "30" "1436" "0" "1436" "0" "c.*200C>T" "r.(=)" "p.(=)" "" "0000678346" "00002936" "50" "1052" "0" "1052" "0" "c.1052C>T" "r.(?)" "p.(Thr351Met)" "" "0000678347" "00002936" "50" "1052" "0" "1052" "0" "c.1052C>T" "r.(?)" "p.(Thr351Met)" "" "0000678348" "00002936" "50" "424" "0" "424" "0" "c.424C>A" "r.(?)" "p.(Pro142Thr)" "" "0000690216" "00002936" "50" "1202" "0" "1202" "0" "c.1202T>C" "r.(?)" "p.(Leu401Pro)" "" "0000690217" "00002936" "50" "1045" "0" "1045" "0" "c.1045C>G" "r.(?)" "p.(Arg349Gly)" "" "0000690218" "00002936" "50" "1045" "0" "1045" "0" "c.1045C>G" "r.(?)" "p.(Arg349Gly)" "" "0000690219" "00002936" "50" "668" "0" "668" "0" "c.668A>T" "r.(?)" "p.(Tyr223Phe)" "" "0000690220" "00002936" "50" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Glu154Lys)" "" "0000721895" "00002936" "50" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Asp46Asn)" "" "0000735218" "00002936" "90" "966" "-2" "966" "-2" "c.966-2A>G" "r.spl?" "p.?" "" "0000735219" "00002936" "70" "504" "0" "504" "0" "c.504A>C" "r.(?)" "p.(Lys168Asn)" "" "0000760890" "00002936" "70" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Arg402Gln)" "" "0000803574" "00002936" "50" "677" "0" "677" "0" "c.677T>C" "r.(?)" "p.(Met226Thr)" "" "0000851875" "00002936" "50" "697" "-7" "697" "-6" "c.697-7_697-6del" "r.(=)" "p.(=)" "" "0000851876" "00002936" "70" "506" "-2" "506" "-2" "c.506-2A>G" "r.spl?" "p.?" "" "0000861155" "00002936" "30" "38" "0" "38" "0" "c.38G>A" "r.(?)" "p.(Gly13Glu)" "" "0000978146" "00002936" "50" "1052" "0" "1052" "0" "c.1052C>T" "r.(?)" "p.(Thr351Met)" "" "0000978147" "00002936" "50" "668" "0" "668" "0" "c.668A>T" "r.(?)" "p.(Tyr223Phe)" "" "0000978148" "00002936" "30" "505" "7" "505" "7" "c.505+7G>A" "r.(=)" "p.(=)" "" "0000978149" "00002936" "30" "430" "10" "430" "10" "c.430+10A>G" "r.(=)" "p.(=)" "" "0000997081" "00002936" "50" "422" "0" "422" "0" "c.422T>C" "r.(?)" "p.(Ile141Thr)" "" "0001012429" "00002936" "50" "126" "619" "126" "619" "c.126+619T>C" "r.(?)" "p.?" "" "0001036894" "00002936" "50" "988" "0" "988" "0" "c.988T>C" "r.(?)" "p.(Trp330Arg)" "" "0001036895" "00002936" "50" "934" "0" "934" "0" "c.934C>G" "r.(?)" "p.(Arg312Gly)" "" "0001036896" "00002936" "30" "798" "0" "798" "0" "c.798G>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 51 "{{screeningid}}" "{{variantid}}" "0000057745" "0000088039" "0000057745" "0000088149" "0000057746" "0000088040" "0000057747" "0000088041" "0000057747" "0000088143" "0000057748" "0000088042" "0000057748" "0000088144" "0000057749" "0000088043" "0000057749" "0000088145" "0000057750" "0000088044" "0000057750" "0000088146" "0000057751" "0000088045" "0000057751" "0000088147" "0000057752" "0000088046" "0000057752" "0000088148" "0000057753" "0000088047" "0000057754" "0000088048" "0000057755" "0000088049" "0000081133" "0000130219" "0000117286" "0000188131" "0000117301" "0000188449" "0000117302" "0000188450" "0000117304" "0000188451" "0000117322" "0000188167" "0000117348" "0000188193" "0000117357" "0000188202" "0000117358" "0000188203" "0000117402" "0000188247" "0000117420" "0000188265" "0000117426" "0000188271" "0000117468" "0000188500" "0000117481" "0000188509" "0000117511" "0000188342" "0000117539" "0000188378" "0000117541" "0000188380" "0000117580" "0000188549" "0000164514" "0000367730" "0000164514" "0000367731" "0000241518" "0000487521" "0000241518" "0000487522" "0000295773" "0000652462" "0000295774" "0000652463" "0000295775" "0000652464" "0000302466" "0000665755" "0000302532" "0000665822" "0000302533" "0000665823" "0000306316" "0000670004" "0000336140" "0000735218" "0000336140" "0000735219" "0000360782" "0000760890" "0000457882" "0001012429"