### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ASNS) # 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}}" "ASNS" "asparagine synthetase (glutamine-hydrolyzing)" "7" "q21.3" "unknown" "NC_000007.13" "UD_132465616178" "" "https://www.LOVD.nl/ASNS" "" "1" "753" "440" "108370" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/ASNS_NM_001673.4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-12-19 10:23:53" "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}}" "00025773" "ASNS" "transcript variant 2" "003" "NM_001673.4" "" "NP_001664.3" "" "" "" "-251" "1828" "1686" "97501854" "97481429" "00006" "2022-12-18 12:28:17" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04011" "ASNSD" "asparagine synthetase deficiency (ASNSD)" "AR" "615574" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-11-05 23:11:37" "05331" "PCH" "hypoplasia, pontocerebellar (PCH)" "AD;AR" "" "cerebellum" "" "non-degenerative form of pontocerebellar hypoplasia" "00001" "2017-09-25 12:19:57" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ASNS" "04011" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00080867" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00080975" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "no information from parents" "" "" "" "" "0" "" "" "" "" "00267036" "" "" "" "2" "" "01399" "" "" "M" "" "" "" "0" "" "" "" "" "00361697" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "11DG1123" "00374205" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-6032" "00374665" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2334" "00387793" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, first cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M8600554" "00400295" "" "" "" "1" "" "01164" "" "" "F" "yes" "Syria" "" "0" "" "" "" "191936" "00426110" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "M" "" "Oman" "" "0" "" "" "" "16MS3000" "00427962" "" "" "" "2" "" "00006" "{PMID:Akesson 2020:36189577}, {PMID:Bournazos 2022:34906502}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "no" "Australia" "" "0" "" "" "Sudan-S" "FamPatII6;A058" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00080867" "04011" "00080975" "04011" "00267036" "04011" "00361697" "00139" "00374205" "00198" "00374665" "00198" "00387793" "00139" "00400295" "04011" "00426110" "00139" "00427962" "05331" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 04011, 05331 ## Count = 10 "{{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}}" "0000060436" "04011" "00080867" "01758" "Familial, autosomal recessive" "" "Asparagine synthetase deficiency (OMIM:615574)" "" "" "" "" "" "" "" "" "" "" "" "0000060544" "04011" "00080975" "01758" "Familial, autosomal recessive" "" "Asparagine synthetase deficiency (OMIM:615574)" "" "" "" "" "" "" "" "" "" "" "" "0000204966" "04011" "00267036" "01399" "Familial, autosomal recessive" "" "Microcephaly HP:0000252\r\nCerebellar hypoplasia HP:0001321" "" "" "" "" "" "" "" "" "" "" "" "0000257102" "00139" "00361697" "00006" "Familial, autosomal recessive" "0y1m" "syndromic; global developmental delay, microcephaly, hyperkeplexia" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000269415" "00198" "00374205" "00006" "Familial, autosomal recessive" "" "Microcephaly, generalized seizures, hypomyelination, global developmental delay, hyperglycemia, hypoinsulinemia, respiratory distress and succumbed on 65th day." "" "" "" "" "" "" "" "" "" "epilepsy, microcephaly" "" "0000269875" "00198" "00374665" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000281361" "00139" "00387793" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly, epilepsy" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000293335" "04011" "00400295" "01164" "Familial, autosomal recessive" "00y05m" "Microcephaly, Apnea, Respiratory insufficiency, Seizure, Status epilepticus, Family history" "" "" "" "" "" "" "" "" "" "" "" "0000317260" "00139" "00426110" "00006" "Familial, autosomal recessive" "5m" "" "" "" "" "" "" "" "" "" "Asparagine synthetase deficiency" "intellectual disability" "" "0000318908" "05331" "00427962" "00006" "Familial, autosomal recessive" "00y01m" "see paper; ..., pregnancy complicated by antenatal detection microcephaly, suspected pontocerebellar hypoplasia; birth 36w, emergency Cesarean section (suspected fetal distress), intubated for poor respiratory effort; microcephaly (OFC Z-2.5), normal growth parameters; abnormal movements with fisting, back-arching, posturing; EEG no seizures; MRI brain microcephaly, cerebellar hypoplasia" "" "" "" "" "" "" "" "" "ASNSD" "pontocerebellar hypoplasia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000080979" "00080867" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000081087" "00080975" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000268164" "00267036" "1" "01399" "01399" "2019-10-31 03:02:33" "" "" "RT-PCR" "RNA" "" "" "0000362925" "00361697" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000375399" "00374205" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375859" "00374665" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000389024" "00387793" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000401539" "00400295" "1" "01164" "01164" "2022-01-26 14:37:24" "" "" "SEQ-NG-I" "DNA" "" "" "0000427430" "00426110" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429375" "00427962" "1" "00006" "00006" "2022-12-19 10:00:41" "00006" "2022-12-19 10:28:19" "SEQ;SEQ-NG;SEQ-NG-RNA" "DNA;RNA" "whole blood, fibroblasts" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000080979" "ASNS" "0000081087" "ASNS" "0000268164" "ASNS" "0000362925" "ASNS" "0000375399" "ASNS" "0000375859" "ASNS" "0000389024" "ASNS" "0000401539" "ASNS" ## 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 = 40 "{{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}}" "0000130065" "3" "90" "7" "97483937" "97483937" "subst" "8.12367E-6" "01758" "ASNS_000001" "g.97483937T>C" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.97854625T>C" "" "pathogenic" "ACMG" "0000130173" "3" "90" "7" "97483937" "97483937" "subst" "8.12367E-6" "01758" "ASNS_000001" "g.97483937T>C" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.97854625T>C" "" "pathogenic" "ACMG" "0000248935" "0" "10" "7" "97488569" "97488569" "subst" "0.792561" "02325" "ASNS_000006" "g.97488569A>T" "" "" "" "ASNS(NM_183356.4):c.629T>A (p.V210E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97859257A>T" "" "benign" "" "0000249770" "0" "50" "7" "97488174" "97488174" "subst" "0" "02325" "ASNS_000005" "g.97488174A>G" "" "" "" "ASNS(NM_001673.5):c.767T>C (p.(Leu256Pro)), ASNS(NM_183356.4):c.767T>C (p.L256P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97858862A>G" "" "VUS" "" "0000255653" "0" "90" "7" "97486030" "97486030" "subst" "0" "01943" "ASNS_000002" "g.97486030A>C" "" "" "" "ASNS(NM_133436.3):c.1002T>G (p.Y334*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97856718A>C" "" "pathogenic" "" "0000259154" "0" "10" "7" "97488153" "97488153" "dup" "0" "02325" "ASNS_000004" "g.97488153dup" "" "" "" "ASNS(NM_183356.4):c.775+19dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97858841dup" "" "benign" "" "0000259155" "0" "10" "7" "97487730" "97487730" "subst" "0.135419" "02325" "ASNS_000003" "g.97487730G>A" "" "" "" "ASNS(NM_183356.4):c.776-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97858418G>A" "" "benign" "" "0000263031" "0" "30" "7" "97488686" "97488686" "subst" "2.85491E-5" "01943" "ASNS_000007" "g.97488686G>A" "" "" "" "ASNS(NM_133436.3):c.512C>T (p.A171V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97859374G>A" "" "likely benign" "" "0000342834" "0" "50" "7" "97483919" "97483919" "subst" "5.28026E-5" "02327" "ASNS_000010" "g.97483919C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97854607C>T" "" "VUS" "" "0000343021" "0" "50" "7" "97498323" "97498323" "subst" "0" "02327" "ASNS_000012" "g.97498323C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97869011C>T" "" "VUS" "" "0000343047" "0" "50" "7" "97481701" "97481701" "subst" "2.03115E-5" "02327" "ASNS_000008" "g.97481701C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97852389C>T" "" "VUS" "" "0000346963" "0" "90" "7" "97488629" "97488629" "subst" "0" "02327" "ASNS_000011" "g.97488629A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97859317A>C" "" "pathogenic" "" "0000347581" "0" "50" "7" "97482449" "97482449" "subst" "0" "02327" "ASNS_000009" "g.97482449T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97853137T>C" "" "VUS" "" "0000350078" "0" "70" "7" "97483937" "97483937" "subst" "8.12367E-6" "02327" "ASNS_000001" "g.97483937T>C" "" "" "" "ASNS(NM_001673.5):c.1193A>G (p.(Tyr398Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.97854625T>C" "" "likely pathogenic" "" "0000533150" "0" "50" "7" "97481779" "97481779" "subst" "0" "02327" "ASNS_000013" "g.97481779A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97852467A>G" "" "VUS" "" "0000533151" "0" "50" "7" "97483955" "97483955" "subst" "6.49894E-5" "01943" "ASNS_000014" "g.97483955C>T" "" "" "" "ASNS(NM_183356.3):c.1175G>A (p.R392K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97854643C>T" "" "VUS" "" "0000533152" "0" "50" "7" "97486014" "97486014" "subst" "4.11502E-6" "01804" "ASNS_000015" "g.97486014G>A" "" "" "" "ASNS(NM_001178075.1):c.955C>T (p.(Arg319Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97856702G>A" "" "VUS" "" "0000533153" "0" "50" "7" "97488188" "97488190" "del" "0" "02327" "ASNS_000016" "g.97488188_97488190del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97858876_97858878del" "" "VUS" "" "0000533154" "0" "70" "7" "97488195" "97488195" "subst" "4.07488E-6" "02327" "ASNS_000017" "g.97488195G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97858883G>A" "" "likely pathogenic" "" "0000600840" "3" "90" "7" "97482371" "97482371" "subst" "0" "01399" "ASNS_000018" "g.97482371C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.97853059C>T" "" "pathogenic (recessive)" "ACMG" "0000611340" "0" "50" "7" "97482667" "97482667" "subst" "0" "02325" "ASNS_000020" "g.97482667G>A" "" "" "" "ASNS(NM_001352496.2):c.1270C>T (p.R424*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97853355G>A" "" "VUS" "" "0000621960" "0" "50" "7" "97482484" "97482484" "subst" "0.0011489" "01943" "ASNS_000019" "g.97482484G>A" "" "" "" "ASNS(NM_133436.3):c.1364C>T (p.S455F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.97853172G>A" "" "VUS" "" "0000690111" "0" "30" "7" "97481670" "97481670" "subst" "0.000410219" "01943" "ASNS_000021" "g.97481670C>T" "" "" "" "ASNS(NM_001352496.1):c.1587G>A (p.R529=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000763299" "3" "70" "7" "97483937" "97483937" "subst" "8.12367E-6" "00006" "ASNS_000001" "g.97483937T>C" "" "{PMID:Anazi 2017:27431290}" "" "NM_001178076.1:c.944A>G" "ACMG PS4, PM2, PP1, PP3" "Germline" "" "" "0" "" "" "g.97854625T>C" "" "likely pathogenic" "ACMG" "0000786750" "3" "70" "7" "97482529" "97482529" "subst" "0" "00006" "ASNS_000022" "g.97482529T>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.97853217T>C" "" "likely pathogenic" "" "0000787210" "3" "50" "7" "97498323" "97498323" "subst" "0" "00006" "ASNS_000012" "g.97498323C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs769236847" "0" "" "" "g.97869011C>T" "{CV-RCV:000432896.1}" "VUS" "" "0000817817" "3" "70" "7" "97498245" "97498245" "subst" "0" "00006" "ASNS_000023" "g.97498245T>C" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.97868933T>C" "" "likely pathogenic (recessive)" "ACMG" "0000834863" "3" "90" "7" "97498256" "97498256" "subst" "0" "01164" "ASNS_000024" "g.97498256C>T" "" "" "" "" "ACMG: PVS1, PM2_SUP, PM3_SUP; trio-exom, parents heteroz carriers" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000851731" "0" "50" "7" "97481643" "97481643" "subst" "1.21858E-5" "01943" "ASNS_000025" "g.97481643C>T" "" "" "" "ASNS(NM_001352496.1):c.1614G>A (p.M538I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851732" "0" "70" "7" "97486129" "97486129" "subst" "4.27321E-6" "01943" "ASNS_000026" "g.97486129C>T" "" "" "" "ASNS(NM_001352496.1):c.904-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000860979" "0" "90" "7" "97498218" "97498218" "subst" "0" "01943" "ASNS_000027" "g.97498218A>G" "" "" "" "ASNS(NM_001352496.1):c.249+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000904790" "3" "70" "7" "97487722" "97487722" "subst" "0" "00006" "ASNS_000028" "g.97487722A>C" "" "{PMID:Al-Kasbi 2022:36344539}" "" "NM_001673.5:c.776-5T>G" "" "Germline" "" "" "0" "" "" "g.97858410A>C" "" "likely pathogenic (recessive)" "" "0000908844" "3" "90" "7" "97482371" "97482371" "subst" "0" "00006" "ASNS_000018" "g.97482371C>T" "" "{PMID:Akesson 2020:36189577}, {PMID:Bournazos 2022:34906502}" "" "" "transcripts cycloheximide sensitive; exon skipping, cryptic splice donor, intron retention" "Germline" "yes" "" "0" "" "" "g.97853059C>T" "" "pathogenic (recessive)" "" "0000977918" "0" "50" "7" "97482384" "97482384" "subst" "6.81713E-5" "01804" "ASNS_000029" "g.97482384G>A" "" "" "" "ASNS(NM_001673.5):c.1464C>T (p.(Tyr488=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977919" "0" "50" "7" "97488174" "97488174" "subst" "0" "01804" "ASNS_000005" "g.97488174A>G" "" "" "" "ASNS(NM_001673.5):c.767T>C (p.(Leu256Pro)), ASNS(NM_183356.4):c.767T>C (p.L256P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036608" "0" "30" "7" "97482535" "97482535" "subst" "0" "01804" "ASNS_000030" "g.97482535G>A" "" "" "" "ASNS(NM_001673.5):c.1321-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036609" "0" "70" "7" "97483937" "97483937" "subst" "8.12367E-6" "01804" "ASNS_000001" "g.97483937T>C" "" "" "" "ASNS(NM_001673.5):c.1193A>G (p.(Tyr398Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001036610" "0" "50" "7" "97484744" "97484744" "subst" "8.55669E-5" "01804" "ASNS_000031" "g.97484744C>T" "" "" "" "ASNS(NM_001673.5):c.1058G>A (p.(Arg353Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036611" "0" "50" "7" "97493654" "97493654" "subst" "0" "01804" "ASNS_000032" "g.97493654A>C" "" "" "" "ASNS(NM_001673.5):c.404T>G (p.(Leu135Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036612" "0" "50" "7" "97498324" "97498324" "subst" "0" "01804" "ASNS_000033" "g.97498324G>A" "" "" "" "ASNS(NM_001673.5):c.145C>T (p.(Arg49Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 ASNS ## Count = 40 "{{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}}" "0000130065" "00025773" "90" "1193" "0" "1193" "0" "c.1193A>G" "r.(?)" "p.(Tyr398Cys)" "" "0000130173" "00025773" "90" "1193" "0" "1193" "0" "c.1193A>G" "r.(?)" "p.(Tyr398Cys)" "" "0000248935" "00025773" "10" "629" "0" "629" "0" "c.629T>A" "r.(?)" "p.(Val210Glu)" "" "0000249770" "00025773" "50" "767" "0" "767" "0" "c.767T>C" "r.(?)" "p.(Leu256Pro)" "" "0000255653" "00025773" "90" "1002" "0" "1002" "0" "c.1002T>G" "r.(?)" "p.(Tyr334Ter)" "" "0000259154" "00025773" "10" "775" "19" "775" "19" "c.775+19dup" "r.(=)" "p.(=)" "" "0000259155" "00025773" "10" "776" "-13" "776" "-13" "c.776-13C>T" "r.(=)" "p.(=)" "" "0000263031" "00025773" "30" "512" "0" "512" "0" "c.512C>T" "r.(?)" "p.(Ala171Val)" "" "0000342834" "00025773" "50" "1211" "0" "1211" "0" "c.1211G>A" "r.(?)" "p.(Arg404His)" "" "0000343021" "00025773" "50" "146" "0" "146" "0" "c.146G>A" "r.(?)" "p.(Arg49Gln)" "" "0000343047" "00025773" "50" "1556" "0" "1556" "0" "c.1556G>A" "r.(?)" "p.(Arg519His)" "" "0000346963" "00025773" "90" "569" "0" "569" "0" "c.569T>G" "r.(?)" "p.(Leu190Ter)" "" "0000347581" "00025773" "50" "1399" "0" "1399" "0" "c.1399A>G" "r.(?)" "p.(Lys467Glu)" "" "0000350078" "00025773" "70" "1193" "0" "1193" "0" "c.1193A>G" "r.(?)" "p.(Tyr398Cys)" "" "0000533150" "00025773" "50" "1478" "0" "1478" "0" "c.1478T>C" "r.(?)" "p.(Val493Ala)" "" "0000533151" "00025773" "50" "1175" "0" "1175" "0" "c.1175G>A" "r.(?)" "p.(Arg392Lys)" "" "0000533152" "00025773" "50" "1018" "0" "1018" "0" "c.1018C>T" "r.(?)" "p.(Arg340Cys)" "" "0000533153" "00025773" "50" "753" "0" "755" "0" "c.753_755del" "r.(?)" "p.(Arg252del)" "" "0000533154" "00025773" "70" "746" "0" "746" "0" "c.746C>T" "r.(?)" "p.(Thr249Ile)" "" "0000600840" "00025773" "90" "1476" "1" "1476" "1" "c.1476+1G>A" "r.1321_1476del" "p.Asn441_Gln492del" "12i" "0000611340" "00025773" "50" "1270" "0" "1270" "0" "c.1270C>T" "r.(?)" "p.(Arg424Ter)" "" "0000621960" "00025773" "50" "1364" "0" "1364" "0" "c.1364C>T" "r.(?)" "p.(Ser455Phe)" "" "0000690111" "00025773" "30" "1587" "0" "1587" "0" "c.1587G>A" "r.(?)" "p.(Arg529=)" "" "0000763299" "00025773" "70" "1193" "0" "1193" "0" "c.1193A>G" "r.(?)" "p.(Tyr398Cys)" "" "0000786750" "00025773" "70" "1321" "-2" "1321" "-2" "c.1321-2A>G" "r.spl" "p.?" "11i" "0000787210" "00025773" "50" "146" "0" "146" "0" "c.146G>A" "r.(?)" "p.(Arg49Gln)" "3" "0000817817" "00025773" "70" "224" "0" "224" "0" "c.224A>G" "r.(?)" "p.(Asn75Ser)" "" "0000834863" "00025773" "90" "213" "0" "213" "0" "c.213G>A" "r.(?)" "p.(Trp71*)" "" "0000851731" "00025773" "50" "1614" "0" "1614" "0" "c.1614G>A" "r.(?)" "p.(Met538Ile)" "" "0000851732" "00025773" "70" "904" "-1" "904" "-1" "c.904-1G>A" "r.spl?" "p.?" "" "0000860979" "00025773" "90" "249" "2" "249" "2" "c.249+2T>C" "r.spl?" "p.?" "" "0000904790" "00025773" "70" "776" "-5" "776" "-5" "c.776-5T>G" "r.spl?" "p.?" "" "0000908844" "00025773" "90" "1476" "1" "1476" "1" "c.1476+1G>A" "r.[1321_1476del,1429_1476del,1476_1477ins[a;1476+2_1477-1]]" "p.[Asn441_Gln492del,Lys478_Val493del,Val493Ilefs*2]" "12i" "0000977918" "00025773" "50" "1464" "0" "1464" "0" "c.1464C>T" "r.(?)" "p.(=)" "" "0000977919" "00025773" "50" "767" "0" "767" "0" "c.767T>C" "r.(?)" "p.(Leu256Pro)" "" "0001036608" "00025773" "30" "1321" "-8" "1321" "-8" "c.1321-8C>T" "r.(=)" "p.(=)" "" "0001036609" "00025773" "70" "1193" "0" "1193" "0" "c.1193A>G" "r.(?)" "p.(Tyr398Cys)" "" "0001036610" "00025773" "50" "1058" "0" "1058" "0" "c.1058G>A" "r.(?)" "p.(Arg353Gln)" "" "0001036611" "00025773" "50" "404" "0" "404" "0" "c.404T>G" "r.(?)" "p.(Leu135Arg)" "" "0001036612" "00025773" "50" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000080979" "0000130065" "0000081087" "0000130173" "0000268164" "0000600840" "0000362925" "0000763299" "0000375399" "0000786750" "0000375859" "0000787210" "0000389024" "0000817817" "0000401539" "0000834863" "0000427430" "0000904790" "0000429375" "0000908844"