### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NARS) # 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}}" "NARS" "asparaginyl-tRNA synthetase" "18" "q21.31" "unknown" "NC_000018.9" "UD_132378706737" "" "https://www.LOVD.nl/NARS1" "" "1" "7643" "4677" "108410" "1" "1" "1" "1" "NOTE: gene name changed from NARS to NARS1\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/NARS_codingDNA.html" "1" "" "NOTE: gene name changed from NARS to NARS1" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-11-09 09:27:03" "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}}" "00014291" "NARS" "asparaginyl-tRNA synthetase" "001" "NM_004539.3" "" "NP_004530.1" "" "" "" "-228" "2640" "1647" "55289177" "55267891" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00285" "-" "epilepsy, focal, dysarthria, intellectual disability, cortical thickening, cerebellar atrophy" "" "" "" "" "" "00081" "2013-11-28 15:59:54" "00006" "2019-02-14 14:51:22" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07039" "NEDMILG" "neurodevelopmental disorder with microcephaly, impaired language, gait abnormalities, autosomal recessive" "AR" "619091" "" "" "" "00006" "2023-11-09 09:25:17" "" "" "07040" "NEDMILEG" "neurodevelopmental disorder with microcephaly, impaired language, epilepsy, gait abnormalities, autosomal dominant" "AD" "619092" "" "" "" "00006" "2023-11-09 09:26:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "NARS" "05611" "NARS" "07039" "NARS" "07040" ## Individuals ## Do not remove or alter this header ## ## Count = 34 "{{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}}" "00050538" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00303557" "" "" "" "1" "" "02190" "{PMID:Manole 2020:32738225}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "Netherlands" "" "0" "" "" "" "Fam1Pat1" "00303558" "" "" "" "1" "" "02190" "{PMID:Manole 2020:32738225}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam7Pat7" "00303559" "" "" "" "1" "" "02190" "{PMID:Manole 2020:32738225}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "United States" "" "0" "" "" "Germany-Ireland;England-native American;Russia-Poland" "Fam8Pat8" "00303560" "" "" "" "1" "" "02190" "{PMID:Manole 2020:32738225}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "India" "" "0" "" "" "India-N" "Fam10Pat11" "00303561" "" "" "" "2" "" "02190" "{PMID:Manole 2020:32738225}" "2-generation family, affected sister/brother, unaffected heterozygous parents" "M" "no" "Kosovo" "" "0" "" "" "" "Fam16Pat24" "00303562" "" "" "" "3" "" "02190" "{PMID:Manole 2020:32738225}" "4-generation family, 3 affected sibs (2F, M), unaffected heterozygous parents" "F" "yes" "Libya" "" "0" "" "" "" "Fam17Pat26" "00303563" "" "" "" "2" "" "02190" "{PMID:Manole 2020:32738225}" "2-generation family, affected sisters, unaffected heterozygous parents" "F" "no" "Germany" "" "0" "" "" "" "Fam18Pat27" "00303564" "" "" "" "2" "" "02190" "{PMID:Manole 2020:32738225}" "3-generation family, affected brother/sister, unaffected heterozygous parents" "M" "no" "Turkey" "" "0" "" "" "" "Fam19Pat29" "00303565" "" "" "" "1" "" "02190" "{PMID:Manole 2020:32738225}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "no" "Canada" "" "0" "" "" "" "Fam20Pat31" "00303566" "" "" "" "1" "" "02190" "{PMID:Manole 2020:32738225}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "no" "United States" "" "0" "" "" "" "Fam21Pat32" "00430722" "" "" "" "1" "" "03312" "" "" "" "yes" "Pakistan" "" "" "" "" "" "" "00441675" "" "" "" "1" "" "00006" "{PMID:Manole 2020:32738225}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "Netherlands" "" "0" "" "" "" "Fam2Pat2" "00441676" "" "" "" "1" "" "00006" "{PMID:Manole 2020:32738225}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Netherlands" "" "0" "" "" "" "Fam3Pat3" "00441677" "" "" "" "1" "" "00006" "{PMID:Manole 2020:32738225}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "United States" "" "0" "" "" "white" "Fam4Pat4" "00441678" "" "" "" "1" "" "00006" "{PMID:Manole 2020:32738225}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "United States" "" "0" "" "" "Hispanic;Europe" "Fam5Pat5" "00441679" "" "" "" "1" "" "00006" "{PMID:Manole 2020:32738225}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "United States" "" "0" "" "" "Europe" "Fam6Pat6" "00441680" "" "" "" "2" "" "00006" "{PMID:Manole 2020:32738225}" "2-generation family, affected brothers, unaffected heterozygous parents" "M" "yes" "India" "" "0" "" "" "India-N" "Fam9Pat9" "00441681" "" "" "00441680" "1" "" "00006" "{PMID:Manole 2020:32738225}" "brother" "M" "yes" "India" "" "0" "" "" "India-N" "Fam9Pat10" "00441682" "" "" "" "4" "" "00006" "{PMID:Manole 2020:32738225}" "2-generation family, 4 affected (3F, M), unaffected heterozygous parents" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam11Pat12" "00441683" "" "" "00441682" "1" "" "00006" "{PMID:Manole 2020:32738225}" "relative" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam11Pat13" "00441684" "" "" "00441682" "1" "" "00006" "{PMID:Manole 2020:32738225}" "relative" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam11Pat14" "00441685" "" "" "00441682" "1" "" "00006" "{PMID:Manole 2020:32738225}" "relative" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam11Pat15" "00441686" "" "" "" "2" "" "00006" "{PMID:Manole 2020:32738225}" "2-generation family, affected brothers, unaffected heterozygous parents" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam12Pat16" "00441687" "" "" "00441686" "1" "" "00006" "{PMID:Manole 2020:32738225}" "brother" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam12Pat17" "00441688" "" "" "" "2" "" "00006" "{PMID:Manole 2020:32738225}" "2-generation family, affected brothers, unaffected heterozygous parents" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam13Pat18" "00441689" "" "" "00441688" "1" "" "00006" "{PMID:Manole 2020:32738225}" "brother" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam13Pat19" "00441690" "" "" "" "1" "" "00006" "{PMID:Manole 2020:32738225}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam14Pat20" "00441691" "" "" "" "4" "" "00006" "{PMID:Manole 2020:32738225}" "2-generation family, 4 affected sibs (2F, 2M), unaffected heterozygous parents" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam15Pat21" "00441692" "" "" "00441691" "1" "" "00006" "{PMID:Manole 2020:32738225}" "brother" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam15Pat22" "00441693" "" "" "00441691" "1" "" "00006" "{PMID:Manole 2020:32738225}" "sister" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam15Pat23" "00441694" "" "" "00303561" "1" "" "00006" "{PMID:Manole 2020:32738225}" "sister" "F" "no" "Kosovo" "" "0" "" "" "" "Fam16Pat25" "00441695" "" "" "00303563" "1" "" "00006" "{PMID:Manole 2020:32738225}" "sister" "F" "no" "Germany" "" "0" "" "" "" "Fam18Pat28" "00441696" "" "" "00303564" "1" "" "00006" "{PMID:Manole 2020:32738225}" "sister" "F" "no" "Turkey" "" "0" "" "" "" "Fam19Pat30" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 34 "{{individualid}}" "{{diseaseid}}" "00050538" "00198" "00303557" "04270" "00303558" "04270" "00303559" "04270" "00303560" "00285" "00303561" "04270" "00303562" "04270" "00303563" "04270" "00303564" "04270" "00303565" "04270" "00303566" "04270" "00430722" "04270" "00441675" "05611" "00441676" "05611" "00441677" "05611" "00441678" "05611" "00441679" "05611" "00441680" "05611" "00441681" "05611" "00441682" "05611" "00441683" "05611" "00441684" "05611" "00441685" "05611" "00441686" "05611" "00441687" "05611" "00441688" "05611" "00441689" "05611" "00441690" "05611" "00441691" "05611" "00441692" "05611" "00441693" "05611" "00441694" "05611" "00441695" "05611" "00441696" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00285, 04270, 05611, 07039, 07040 ## Count = 33 "{{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}}" "0000037150" "00198" "00050538" "00006" "Isolated (sporadic)" "" "microcephaly, muscular hypotonia, short philtrum, upslanted palpebral fissure" "" "" "" "" "" "" "" "" "" "" "" "0000331090" "04270" "00303558" "00006" "Isolated (sporadic)" "02y10m" "see paper; ..., no microcephaly; global developmental delay; 12m-sit; 2y3m-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; large ears, long slender fingers; tone reduced; reflexes increased" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000331091" "04270" "00303559" "00006" "Isolated (sporadic)" "15y" "see paper; ..., microcephaly; global developmental delay; 8m-sit; 2y11m-walk; language severely delayed; severe intellectual disability; myoclonic/partial seizures; ataxia; imaging no anomalies detected; broad forehead; tone increased; normal power; ataxic gait; reflexes increased; stereotypies" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000331092" "04270" "00303561" "00006" "Familial, autosomal recessive" "02y" "see paper; ..., microcephaly; global developmental delay; not sitting; not waking; language notdelayed; profound intellectual disability; myoclonic/generalised tonic clonic seizures; delayed myelination; no dysmorphic features; tone increased; power reduced; reflexes reduced" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000331093" "04270" "00303562" "00006" "Familial, autosomal recessive" "07y" "see paper; ..., microcephaly; global developmental delay; language severely delayed; severe intellectual disability; generalised tonic clonic seizures;" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000331094" "04270" "00303565" "00006" "Familial, autosomal recessive" "08y" "see paper; ..., microcephaly; global developmental delay; 6y10m-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; ataxia; thin corpus callosum, decreased white matter; hypotelorism; tone reduced; normal power; sensation normal; ataxic gait; reflexes normal; hip dysplasia" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000331095" "04270" "00303566" "00006" "Familial, autosomal recessive" "03y" "see paper; ..., microcephaly; global developmental delay; 10m-sit; 3y-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; ataxia; arachnoid cyst; no dysmorphic features; tone increased; normal power; sensation normal; ataxic gait; reflexes increased" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000331096" "04270" "00303564" "00006" "Familial, autosomal recessive" "14y02m" "see paper; ..., microcephaly; global developmental delay; 3y-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; thickening of gyri; no dysmorphic features" "" "" "" "" "" "" "" "" "" "" "" "0000331097" "04270" "00303563" "00006" "Familial, autosomal recessive" "15y" "see paper; ..., microcephaly; global developmental delay; 3y-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; peripheral neuropathy; ataxia; imaging no anomalies detected; no dysmorphic features; tone reduced; power reduced; sensation reduced; ataxic gait; reflexes reduced" "" "" "" "" "" "" "" "" "" "" "" "0000331098" "00285" "00303560" "00006" "Familial, autosomal recessive" "08y" "see paper; ..., microcephaly; global developmental delay; 12m-sit; 2y-walk; language severely delayed; severe intellectual disability; no seizures; no peripheral neuropathy; ataxia; imaging no anomalies detected; clinodactyly, syndactyly; tone normal; normal power; sensation normal; ataxic gait; reflexes normal" "" "" "" "" "" "" "" "" "" "" "" "0000331099" "04270" "00303557" "00006" "Isolated (sporadic)" "17y" "see paper; ..., microcephaly; global developmental delay; 18m-sit; 3y-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; peripheral neuropathy; ataxia; imaging no anomalies detected; upslanting palpebral fissures, pes-cavus; tone normal; power reduced; ataxic gait; reflexes reduced" "" "" "" "" "" "" "" "" "" "" "" "0000331100" "05611" "00441675" "00006" "Isolated (sporadic)" "22y" "see paper; ..., microcephaly; global developmental delay; 16m-sit; 2y2m-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; peripheral neuropathy; ataxia; imaging no anomalies detected; clinodactyly, upslanting palpebral fissures, thoracic kyphosis, wide spaced teeth; tone reduced; power reduced; sensation reduced; unilateral intention tremor; reflexes reduced;" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000331101" "05611" "00441676" "00006" "Isolated (sporadic)" "10y" "see paper; ..., microcephaly; global developmental delay; 2y6m-walk; language severely delayed; severe intellectual disability; ataxia; imaging no anomalies detected; clinodactyly, retrognathia; tone increased; power reduced; dysarthria; reflexes increased; tremor/myoclonus" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000331102" "05611" "00441677" "00006" "Isolated (sporadic)" "13y" "see paper; ..., microcephaly; global developmental delay; 16m-sit; not waking; language severely delayed; profound intellectual disability; myoclonic/partial seizures; no peripheral neuropathy; ataxia; upslanting palpebral fissures, hypertelorism, arachnodactyly, pectus excavatum; tone increased; normal power; sensation normal; ataxic gait; reflexes increased; stereotypies" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000331103" "05611" "00441678" "00006" "Isolated (sporadic)" "16y" "see paper; ..., microcephaly; global developmental delay; 11m-sit; 3y-walk; language severely delayed; profound intellectual disability; generalised tonic clonic seizures / Partial; peripheral neuropathy; ataxia; upslanting palpebral fissures, wide spaced teeth, low set ears, fleshy helices; tone reduced; power reduced; sensation reduced; ataxic gait; reflexes reduced;" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000331104" "05611" "00441679" "00006" "Isolated (sporadic)" "5y8m" "see paper; ..., microcephaly; global developmental delay; 23y-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; no peripheral neuropathy; ataxia; mild atrophy, CSF space enlargement; low set ears, overfolded helices, syndactyly; tone increased; power reduced; sensation normal; ataxic gait; reflexes normal;" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000331105" "05611" "00441680" "00006" "Familial, autosomal recessive" "33y" "see paper; ..., microcephaly; global developmental delay; 12m-sit; language delayed; severe intellectual disability; generalised tonic clonic seizures; peripheral neuropathy; ataxia; imaging no anomalies detected; contractures; tone reduced; power reduced; sensation reduced; ataxic gait; reflexes normal;" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000331106" "05611" "00441681" "00006" "Familial, autosomal recessive" "17y" "see paper; ..., microcephaly; global developmental delay; 12m-sit; language delayed; moderate intellectual disability; no seizures; peripheral neuropathy; ataxia; imaging no anomalies detected; scoliosis; tone reduced; power reduced; sensation reduced; ataxic gait; reflexes normal;" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000331107" "05611" "00441682" "00006" "Familial, autosomal recessive" "17y" "see paper; ..., microcephaly; global developmental delay; 12m-sit; 1y8m-walk; language severely delayed; severe intellectual disability; no seizures; no peripheral neuropathy; ataxia; clinodactyly; tone normal; normal power; sensation normal; ataxic gait; reflexes reduced;" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000331108" "05611" "00441683" "00006" "Familial, autosomal recessive" "17y" "see paper; ..., microcephaly; global developmental delay; 14m-sit; 2y8m-walk; language severely delayed; severe intellectual disability; no seizures; no peripheral neuropathy; no ataxia; no dysmorphic features; tone normal; power reduced; sensation normal; normal gait; reflexes reduced;" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000331109" "05611" "00441684" "00006" "Familial, autosomal recessive" "19y" "see paper; ..., microcephaly; global developmental delay; 12m-sit; 2y8m-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; no peripheral neuropathy; no ataxia; clinodactyly, short limbs; tone normal; power reduced; sensation normal; normal gait; reflexes normal;" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000331110" "05611" "00441685" "00006" "Familial, autosomal recessive" "23y" "see paper; ..., microcephaly; global developmental delay; 12m-sit; 2y8m-walk; language severely delayed; profound intellectual disability; generalised tonic clonic seizures; no peripheral neuropathy; no ataxia; no dysmorphic features; tone normal; power reduced; sensation normal; normal gait; reflexes reduced;" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000331111" "05611" "00441686" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., microcephaly; global developmental delay; 6y6m-walk; language severely delayed; severe intellectual disability; no seizures; no dysmorphic features; tone reduced; power reduced;" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000331112" "05611" "00441687" "00006" "Familial, autosomal recessive" "21y" "see paper; ..., microcephaly; global developmental delay; 3y-walk; language severely delayed; severe intellectual disability; no seizures; no dysmorphic features; tone reduced; power reduced;" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000331113" "05611" "00441688" "00006" "Familial, autosomal recessive" "6m" "see paper; ..., microcephaly; global developmental delay; 3y-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; no dysmorphic features; power reduced; reflexes reduced;" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000331114" "05611" "00441689" "00006" "Familial, autosomal recessive" "6y6m" "see paper; ..., microcephaly; global developmental delay; 3y-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; no dysmorphic features; power reduced; reflexes reduced;" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000331115" "05611" "00441690" "00006" "Familial, autosomal recessive" "16y" "see paper; ..., no microcephaly; global developmental delay; 7m-sit; 2y-walk; language severely delayed; moderate intellectual disability; no seizures; peripheral neuropathy; imaging no anomalies detected; no dysmorphic features; tone normal; power reduced; sensation reduced; reflexes reduced;" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000331116" "05611" "00441691" "00006" "Familial, autosomal recessive" "30y" "see paper; ..., microcephaly; global developmental delay; 4y-sit; 10y-walk; language severely delayed; severe intellectual disability; partial seizures; ataxia; dysplastic ears, syndactyly; tone normal; power reduced; ataxic gait; reflexes reduced;" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000331117" "05611" "00441692" "00006" "Familial, autosomal recessive" "16y" "see paper; ..., microcephaly; global developmental delay; 1y-sit; 2y-walk; language severely delayed; moderate intellectual disability; partial seizures;" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000331118" "05611" "00441693" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., microcephaly; global developmental delay; 2y-sit; 3y-walk; language severely delayed; moderate intellectual disability; generalised tonic clonic seizures;" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000331119" "05611" "00441694" "00006" "Familial, autosomal recessive" "2y6m" "see paper; ..., microcephaly; global developmental delay; not sitting; not waking; language notdelayed; severe intellectual disability; generalised tonic clonic seizures; delayed myelination; no dysmorphic features; tone normal; power reduced; reflexes reduced;" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000331120" "05611" "00441695" "00006" "Familial, autosomal recessive" "21y" "see paper; ..., microcephaly; global developmental delay; 3y-walk; language severely delayed; severe intellectual disability; no seizures; peripheral neuropathy; ataxia; no dysmorphic features; tone reduced; power reduced; sensation reduced; ataxic gait;" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000331121" "05611" "00441696" "00006" "Familial, autosomal recessive" "7y10m" "see paper; ..., microcephaly; global developmental delay; 2y-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; no dysmorphic features;" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 34 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050483" "00050538" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000304685" "00303557" "1" "02190" "02190" "2020-06-16 13:26:56" "" "" "SEQ-NG-I" "DNA" "" "" "0000304686" "00303558" "1" "02190" "02190" "2020-06-16 13:31:37" "" "" "SEQ-NG-I" "DNA" "" "" "0000304687" "00303559" "1" "02190" "02190" "2020-06-16 13:33:49" "" "" "SEQ-NG-I" "DNA" "" "" "0000304688" "00303560" "1" "02190" "02190" "2020-06-16 13:36:31" "" "" "SEQ-NG-I" "DNA" "" "" "0000304689" "00303561" "1" "02190" "02190" "2020-06-16 13:38:20" "" "" "SEQ-NG-I" "DNA" "" "" "0000304690" "00303562" "1" "02190" "02190" "2020-06-16 13:40:16" "" "" "SEQ-NG-I" "DNA" "" "" "0000304691" "00303563" "1" "02190" "02190" "2020-06-16 13:41:58" "" "" "SEQ-NG-I" "DNA" "" "" "0000304692" "00303564" "1" "02190" "02190" "2020-06-16 13:44:11" "" "" "SEQ-NG-I" "DNA" "" "" "0000304693" "00303565" "1" "02190" "02190" "2020-06-16 13:46:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000304694" "00303566" "1" "02190" "02190" "2020-06-16 13:47:47" "" "" "SEQ-NG-I" "DNA" "" "" "0000432133" "00430722" "1" "03312" "03312" "2023-01-23 08:05:26" "" "" "SEQ-NG-I" "DNA" "" "" "0000443161" "00441675" "1" "00006" "00006" "2023-11-09 12:18:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443162" "00441676" "1" "00006" "00006" "2023-11-09 12:18:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443163" "00441677" "1" "00006" "00006" "2023-11-09 12:18:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443164" "00441678" "1" "00006" "00006" "2023-11-09 12:18:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443165" "00441679" "1" "00006" "00006" "2023-11-09 12:18:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443166" "00441680" "1" "00006" "00006" "2023-11-09 12:18:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443167" "00441681" "1" "00006" "00006" "2023-11-09 12:18:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443168" "00441682" "1" "00006" "00006" "2023-11-09 12:18:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443169" "00441683" "1" "00006" "00006" "2023-11-09 12:18:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443170" "00441684" "1" "00006" "00006" "2023-11-09 12:18:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443171" "00441685" "1" "00006" "00006" "2023-11-09 12:18:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443172" "00441686" "1" "00006" "00006" "2023-11-09 12:18:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443173" "00441687" "1" "00006" "00006" "2023-11-09 12:18:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443174" "00441688" "1" "00006" "00006" "2023-11-09 12:18:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443175" "00441689" "1" "00006" "00006" "2023-11-09 12:18:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443176" "00441690" "1" "00006" "00006" "2023-11-09 12:18:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443177" "00441691" "1" "00006" "00006" "2023-11-09 12:18:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443178" "00441692" "1" "00006" "00006" "2023-11-09 12:18:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443179" "00441693" "1" "00006" "00006" "2023-11-09 12:18:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443180" "00441694" "1" "00006" "00006" "2023-11-09 12:18:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443181" "00441695" "1" "00006" "00006" "2023-11-09 12:18:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443182" "00441696" "1" "00006" "00006" "2023-11-09 12:18:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000304685" "NARS" "0000304686" "NARS" "0000304687" "NARS" "0000304688" "NARS" "0000304689" "NARS" "0000304690" "NARS" "0000304691" "NARS" "0000304692" "NARS" "0000304693" "NARS" "0000304694" "NARS" "0000432133" "NARS" ## 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 = 62 "{{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}}" "0000079672" "0" "90" "18" "48362664" "78015180" "del" "0" "00006" "ATP8B1_000025" "g.48362664_78015180del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, hemizygous in 0.46 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000343070" "0" "50" "18" "55268931" "55268931" "subst" "0" "02327" "NARS_000001" "g.55268931G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57601699G>A" "" "VUS" "" "0000565123" "0" "50" "18" "55269691" "55269691" "subst" "0" "02327" "NARS_000002" "g.55269691C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57602459C>A" "" "VUS" "" "0000617212" "0" "50" "18" "55274883" "55274883" "subst" "0" "01943" "NARS_000003" "g.55274883A>C" "" "" "" "NARS(NM_004539.4):c.594T>G (p.H198Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57607651A>C" "" "VUS" "" "0000668185" "0" "90" "18" "55268931" "55268931" "subst" "0" "02190" "NARS_000001" "g.55268931G>A" "" "{PMID:Manole 2020:32738225}" "" "" "" "De novo" "" "" "0" "" "" "g.57601699G>A" "" "pathogenic (dominant)" "" "0000668186" "0" "90" "18" "55269006" "55269006" "subst" "0" "02190" "NARS_000004" "g.55269006C>T" "" "{PMID:Manole 2020:32738225}" "" "" "" "De novo" "" "" "0" "" "" "g.57601774C>T" "" "pathogenic (dominant)" "" "0000668187" "0" "90" "18" "55274402" "55274402" "subst" "0" "02190" "NARS_000005" "g.55274402C>A" "" "{PMID:Manole 2020:32738225}" "" "" "" "De novo" "" "" "0" "" "" "g.57607170C>A" "" "pathogenic (dominant)" "" "0000668188" "3" "90" "18" "55268898" "55268898" "subst" "1.62751E-5" "02190" "NARS_000006" "g.55268898G>A" "" "{PMID:Manole 2020:32738225}" "" "" "" "Germline" "yes" "" "0" "" "" "g.57601666G>A" "" "pathogenic (recessive)" "" "0000668189" "3" "90" "18" "55287862" "55287862" "subst" "4.06345E-6" "02190" "NARS_000007" "g.55287862C>G" "" "{PMID:Manole 2020:32738225}" "" "" "" "Germline" "yes" "" "0" "" "" "g.57620630C>G" "" "pathogenic (recessive)" "" "0000668190" "3" "90" "18" "55287844" "55287844" "subst" "1.21899E-5" "02190" "NARS_000008" "g.55287844G>A" "" "{PMID:Manole 2020:32738225}" "" "" "" "Germline" "yes" "" "0" "" "" "g.57620612G>A" "" "pathogenic (recessive)" "" "0000668191" "1" "90" "18" "55273936" "55273936" "subst" "0" "02190" "NARS_000010" "g.55273936A>G" "" "{PMID:Manole 2020:32738225}" "" "" "" "Germline" "yes" "" "0" "" "" "g.57606704A>G" "" "pathogenic (recessive)" "" "0000668192" "2" "90" "18" "55270163" "55270163" "subst" "2.03283E-5" "02190" "NARS_000009" "g.55270163C>T" "" "{PMID:Manole 2020:32738225}" "" "" "" "Germline" "yes" "" "0" "" "" "g.57602931C>T" "" "pathogenic (recessive)" "" "0000668193" "1" "90" "18" "55273918" "55273918" "subst" "0.00095447" "02190" "NARS_000011" "g.55273918T>G" "" "{PMID:Manole 2020:32738225}" "" "" "" "Germline" "yes" "" "0" "" "" "g.57606686T>G" "" "pathogenic (recessive)" "" "0000668194" "2" "90" "18" "55283102" "55283102" "dup" "0" "02190" "NARS_000012" "g.55283102dup" "" "{PMID:Manole 2020:32738225}" "" "203dupA" "" "Germline" "yes" "" "0" "" "" "g.57615870dup" "" "pathogenic (recessive)" "" "0000668195" "1" "90" "18" "55282947" "55282947" "subst" "1.63071E-5" "02190" "NARS_000013" "g.55282947G>A" "" "{PMID:Manole 2020:32738225}" "" "" "" "Germline" "yes" "" "0" "" "" "g.57615715G>A" "" "pathogenic (recessive)" "" "0000668196" "2" "90" "18" "55280861" "55280861" "subst" "8.12209E-6" "02190" "NARS_000014" "g.55280861C>A" "" "{PMID:Manole 2020:32738225}" "" "" "" "Germline" "yes" "" "0" "" "" "g.57613629C>A" "" "pathogenic (recessive)" "" "0000668197" "1" "90" "18" "55270051" "55270051" "subst" "8.13491E-6" "02190" "NARS_000015" "g.55270051G>A" "" "{PMID:Manole 2020:32738225}" "" "" "" "Germline" "yes" "" "0" "" "" "g.57602819G>A" "" "pathogenic (recessive)" "" "0000668198" "2" "90" "18" "55283123" "55283123" "subst" "0" "02190" "NARS_000016" "g.55283123T>C" "" "{PMID:Manole 2020:32738225}" "" "" "" "Germline" "yes" "" "0" "" "" "g.57615891T>C" "" "pathogenic (recessive)" "" "0000681177" "0" "50" "18" "55274466" "55274466" "subst" "0" "01804" "NARS_000017" "g.55274466G>A" "" "" "" "NARS(NM_004539.3):c.901C>T (p.(Gln301Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865729" "0" "50" "18" "55268967" "55268967" "subst" "1.63905E-5" "02327" "NARS_000018" "g.55268967G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894605" "0" "90" "18" "55268898" "55268898" "subst" "1.62751E-5" "02329" "NARS_000006" "g.55268898G>A" "" "" "" "NARS1(NM_004539.4):c.1633C>T (p.R545C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000915080" "0" "50" "18" "55268909" "55268909" "subst" "0" "02327" "NARS_000019" "g.55268909C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000917494" "3" "70" "18" "55268898" "55268898" "subst" "1.62751E-5" "03312" "NARS_000006" "g.55268898G>A" "" "Pending" "" "" "" "Germline" "yes" "" "0" "" "" "g.57601666G>A" "VCV000986305.2" "pathogenic" "ACMG" "0000930971" "0" "50" "18" "55273918" "55273918" "subst" "0.00095447" "02326" "NARS_000011" "g.55273918T>G" "" "" "" "NARS(NM_004539.3):c.1067A>C (p.(Asp356Ala)), NARS1(NM_004539.4):c.1067A>C (p.D356A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000944550" "0" "90" "18" "55268931" "55268931" "subst" "0" "00006" "NARS_000001" "g.55268931G>A" "" "{PMID:Manole 2020:32738225}" "" "" "" "De novo" "" "" "0" "" "" "g.57601699G>A" "" "pathogenic (dominant)" "" "0000944551" "0" "90" "18" "55268931" "55268931" "subst" "0" "00006" "NARS_000001" "g.55268931G>A" "" "{PMID:Manole 2020:32738225}" "" "" "" "De novo" "" "" "0" "" "" "g.57601699G>A" "" "pathogenic (dominant)" "" "0000944552" "0" "90" "18" "55268931" "55268931" "subst" "0" "00006" "NARS_000001" "g.55268931G>A" "" "{PMID:Manole 2020:32738225}" "" "" "" "De novo" "" "" "0" "" "" "g.57601699G>A" "" "pathogenic (dominant)" "" "0000944553" "0" "90" "18" "55268931" "55268931" "subst" "0" "00006" "NARS_000001" "g.55268931G>A" "" "{PMID:Manole 2020:32738225}" "" "" "" "De novo" "" "" "0" "" "" "g.57601699G>A" "" "pathogenic (dominant)" "" "0000944554" "0" "90" "18" "55268931" "55268931" "subst" "0" "00006" "NARS_000001" "g.55268931G>A" "" "{PMID:Manole 2020:32738225}" "" "" "" "De novo" "" "" "0" "" "" "g.57601699G>A" "" "pathogenic (dominant)" "" "0000944555" "3" "90" "18" "55268898" "55268898" "subst" "1.62751E-5" "00006" "NARS_000006" "g.55268898G>A" "" "{PMID:Manole 2020:32738225}" "" "" "" "Germline" "" "" "0" "" "" "g.57601666G>A" "" "pathogenic (recessive)" "" "0000944556" "3" "90" "18" "55268898" "55268898" "subst" "1.62751E-5" "00006" "NARS_000006" "g.55268898G>A" "" "{PMID:Manole 2020:32738225}" "" "" "" "Germline" "" "" "0" "" "" "g.57601666G>A" "" "pathogenic (recessive)" "" "0000944557" "3" "90" "18" "55268898" "55268898" "subst" "1.62751E-5" "00006" "NARS_000006" "g.55268898G>A" "" "{PMID:Manole 2020:32738225}" "" "" "" "Germline" "" "" "0" "" "" "g.57601666G>A" "" "pathogenic (recessive)" "" "0000944558" "3" "90" "18" "55268898" "55268898" "subst" "1.62751E-5" "00006" "NARS_000006" "g.55268898G>A" "" "{PMID:Manole 2020:32738225}" "" "" "" "Germline" "" "" "0" "" "" "g.57601666G>A" "" "pathogenic (recessive)" "" "0000944559" "3" "90" "18" "55268898" "55268898" "subst" "1.62751E-5" "00006" "NARS_000006" "g.55268898G>A" "" "{PMID:Manole 2020:32738225}" "" "" "" "Germline" "" "" "0" "" "" "g.57601666G>A" "" "pathogenic (recessive)" "" "0000944560" "3" "90" "18" "55268898" "55268898" "subst" "1.62751E-5" "00006" "NARS_000006" "g.55268898G>A" "" "{PMID:Manole 2020:32738225}" "" "" "" "Germline" "" "" "0" "" "" "g.57601666G>A" "" "pathogenic (recessive)" "" "0000944561" "3" "90" "18" "55268898" "55268898" "subst" "1.62751E-5" "00006" "NARS_000006" "g.55268898G>A" "" "{PMID:Manole 2020:32738225}" "" "" "" "Germline" "" "" "0" "" "" "g.57601666G>A" "" "pathogenic (recessive)" "" "0000944562" "3" "90" "18" "55268898" "55268898" "subst" "1.62751E-5" "00006" "NARS_000006" "g.55268898G>A" "" "{PMID:Manole 2020:32738225}" "" "" "" "Germline" "" "" "0" "" "" "g.57601666G>A" "" "pathogenic (recessive)" "" "0000944563" "3" "90" "18" "55268898" "55268898" "subst" "1.62751E-5" "00006" "NARS_000006" "g.55268898G>A" "" "{PMID:Manole 2020:32738225}" "" "" "" "Germline" "" "" "0" "" "" "g.57601666G>A" "" "pathogenic (recessive)" "" "0000944564" "3" "90" "18" "55268898" "55268898" "subst" "1.62751E-5" "00006" "NARS_000006" "g.55268898G>A" "" "{PMID:Manole 2020:32738225}" "" "" "" "Germline" "" "" "0" "" "" "g.57601666G>A" "" "pathogenic (recessive)" "" "0000944565" "3" "90" "18" "55268898" "55268898" "subst" "1.62751E-5" "00006" "NARS_000006" "g.55268898G>A" "" "{PMID:Manole 2020:32738225}" "" "" "" "Germline" "" "" "0" "" "" "g.57601666G>A" "" "pathogenic (recessive)" "" "0000944566" "3" "90" "18" "55268898" "55268898" "subst" "1.62751E-5" "00006" "NARS_000006" "g.55268898G>A" "" "{PMID:Manole 2020:32738225}" "" "" "" "Germline" "" "" "0" "" "" "g.57601666G>A" "" "pathogenic (recessive)" "" "0000944567" "3" "90" "18" "55268898" "55268898" "subst" "1.62751E-5" "00006" "NARS_000006" "g.55268898G>A" "" "{PMID:Manole 2020:32738225}" "" "" "" "Germline" "" "" "0" "" "" "g.57601666G>A" "" "pathogenic (recessive)" "" "0000944568" "3" "90" "18" "55268898" "55268898" "subst" "1.62751E-5" "00006" "NARS_000006" "g.55268898G>A" "" "{PMID:Manole 2020:32738225}" "" "" "" "Germline" "" "" "0" "" "" "g.57601666G>A" "" "pathogenic (recessive)" "" "0000944569" "3" "90" "18" "55287862" "55287862" "subst" "4.06345E-6" "00006" "NARS_000007" "g.55287862C>G" "" "{PMID:Manole 2020:32738225}" "" "" "" "Germline" "" "" "0" "" "" "g.57620630C>G" "" "pathogenic (recessive)" "" "0000944570" "1" "90" "18" "55273936" "55273936" "subst" "0" "00006" "NARS_000010" "g.55273936A>G" "" "{PMID:Manole 2020:32738225}" "" "" "" "Germline" "" "" "0" "" "" "g.57606704A>G" "" "pathogenic (recessive)" "" "0000944571" "1" "90" "18" "55273918" "55273918" "subst" "0.00095447" "00006" "NARS_000011" "g.55273918T>G" "" "{PMID:Manole 2020:32738225}" "" "" "" "Germline" "" "" "0" "" "" "g.57606686T>G" "" "pathogenic (recessive)" "" "0000944572" "2" "90" "18" "55270163" "55270163" "subst" "2.03283E-5" "00006" "NARS_000009" "g.55270163C>T" "" "{PMID:Manole 2020:32738225}" "" "" "" "Germline" "" "" "0" "" "" "g.57602931C>T" "" "pathogenic (recessive)" "" "0000944573" "2" "90" "18" "55283102" "55283102" "dup" "0" "00006" "NARS_000012" "g.55283102dup" "" "{PMID:Manole 2020:32738225}" "" "203dupA" "" "Germline" "" "" "0" "" "" "g.57615870dup" "" "pathogenic (recessive)" "" "0000951156" "0" "50" "18" "55274469" "55274469" "subst" "0" "02325" "NARS_000021" "g.55274469A>T" "" "" "" "NARS1(NM_004539.4):c.898T>A (p.S300T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951843" "0" "50" "18" "55269717" "55269717" "subst" "0" "03779" "NARS_000020" "g.55269717A>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000983079" "0" "50" "18" "55268925" "55268925" "subst" "2.44714E-5" "01804" "NARS_000022" "g.55268925C>T" "" "" "" "NARS(NM_004539.4):c.1606G>A (p.(Val536Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983080" "0" "50" "18" "55273186" "55273186" "subst" "6.1279E-5" "01804" "NARS_000023" "g.55273186T>C" "" "" "" "NARS(NM_004539.4):c.1154A>G (p.(Lys385Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983081" "0" "50" "18" "55273895" "55273895" "subst" "1.21846E-5" "01804" "NARS_000024" "g.55273895G>A" "" "" "" "NARS(NM_004539.4):c.1090C>T (p.(Arg364Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004191" "0" "50" "18" "55270070" "55270070" "subst" "4.06382E-6" "01804" "NARS_000025" "g.55270070G>C" "" "" "" "NARS(NM_004539.3):c.1357C>G (p.(Pro453Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004192" "0" "90" "18" "55273918" "55273918" "subst" "0.00095447" "01804" "NARS_000011" "g.55273918T>G" "" "" "" "NARS(NM_004539.3):c.1067A>C (p.(Asp356Ala)), NARS1(NM_004539.4):c.1067A>C (p.D356A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001004193" "0" "70" "18" "55274381" "55274381" "subst" "0" "01804" "NARS_000026" "g.55274381C>T" "" "" "" "NARS(NM_004539.3):c.986G>A (p.(Arg329Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001004194" "0" "50" "18" "55274732" "55274732" "subst" "1.2191E-5" "01804" "NARS_000027" "g.55274732G>A" "" "" "" "NARS(NM_004539.3):c.745C>T (p.(Arg249*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004195" "0" "30" "18" "55274774" "55274774" "subst" "4.0624E-6" "01804" "NARS_000028" "g.55274774T>C" "" "" "" "NARS(NM_004539.3):c.703A>G (p.(Met235Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004196" "0" "50" "18" "55282893" "55282893" "subst" "4.07266E-6" "01804" "NARS_000029" "g.55282893T>C" "" "" "" "NARS(NM_004539.3):c.322A>G (p.(Ser108Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027134" "0" "50" "18" "55273151" "55273151" "subst" "0.00252916" "02325" "NARS_000030" "g.55273151T>C" "" "" "" "NARS1(NM_004539.4):c.1189A>G (p.I397V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042480" "0" "50" "18" "55273189" "55273189" "subst" "0.000102343" "01804" "NARS_000031" "g.55273189G>A" "" "" "" "NARS(NM_004539.4):c.1151C>T (p.(Pro384Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042481" "0" "50" "18" "55282869" "55282869" "subst" "0.000163321" "01804" "NARS_000032" "g.55282869T>C" "" "" "" "NARS(NM_004539.4):c.342+4A>G" "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 NARS ## Count = 62 "{{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}}" "0000079672" "00014291" "00" "-8388608" "0" "6907867" "0" "c.-22726231_*6906220del" "r.0?" "p.0?" "" "0000343070" "00014291" "50" "1600" "0" "1600" "0" "c.1600C>T" "r.(?)" "p.(Arg534Ter)" "" "0000565123" "00014291" "50" "1411" "0" "1411" "0" "c.1411G>T" "r.(?)" "p.(Glu471Ter)" "" "0000617212" "00014291" "50" "594" "0" "594" "0" "c.594T>G" "r.(?)" "p.(His198Gln)" "" "0000668185" "00014291" "90" "1600" "0" "1600" "0" "c.1600C>T" "r.(?)" "p.(Arg534*)" "" "0000668186" "00014291" "90" "1525" "0" "1525" "0" "c.1525G>A" "r.(?)" "p.(Gly509Ser)" "" "0000668187" "00014291" "90" "965" "0" "965" "0" "c.965G>T" "r.(?)" "p.(Arg322Leu)" "" "0000668188" "00014291" "90" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000668189" "00014291" "90" "32" "0" "32" "0" "c.32G>C" "r.(?)" "p.(Arg11Pro)" "" "0000668190" "00014291" "90" "50" "0" "50" "0" "c.50C>T" "r.(?)" "p.(Thr17Met)" "" "0000668191" "00014291" "90" "1049" "0" "1049" "0" "c.1049T>C" "r.(?)" "p.(Leu350Pro)" "" "0000668192" "00014291" "90" "1264" "0" "1264" "0" "c.1264G>A" "r.(?)" "p.(Ala422Thr)" "" "0000668193" "00014291" "90" "1067" "0" "1067" "0" "c.1067A>C" "r.(?)" "p.(Asp356Ala)" "" "0000668194" "00014291" "90" "203" "0" "203" "0" "c.203dup" "r.(?)" "p.(Met69Aspfs*4)" "" "0000668195" "00014291" "90" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Arg90*)" "" "0000668196" "00014291" "90" "394" "0" "394" "0" "c.394G>T" "r.(?)" "p.(Gly132Cys)" "" "0000668197" "00014291" "90" "1376" "0" "1376" "0" "c.1376C>T" "r.(?)" "p.(Thr459Ile)" "" "0000668198" "00014291" "90" "178" "0" "178" "0" "c.178A>G" "r.(?)" "p.(Lys60Glu)" "" "0000681177" "00014291" "50" "901" "0" "901" "0" "c.901C>T" "r.(?)" "p.(Gln301Ter)" "" "0000865729" "00014291" "50" "1564" "0" "1564" "0" "c.1564C>T" "r.(?)" "p.(Arg522*)" "" "0000894605" "00014291" "90" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000915080" "00014291" "50" "1622" "0" "1622" "0" "c.1622G>A" "r.(?)" "p.(Arg541Gln)" "" "0000917494" "00014291" "70" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000930971" "00014291" "50" "1067" "0" "1067" "0" "c.1067A>C" "r.(?)" "p.(Asp356Ala)" "" "0000944550" "00014291" "90" "1600" "0" "1600" "0" "c.1600C>T" "r.(?)" "p.(Arg534Ter)" "" "0000944551" "00014291" "90" "1600" "0" "1600" "0" "c.1600C>T" "r.(?)" "p.(Arg534Ter)" "" "0000944552" "00014291" "90" "1600" "0" "1600" "0" "c.1600C>T" "r.(?)" "p.(Arg534Ter)" "" "0000944553" "00014291" "90" "1600" "0" "1600" "0" "c.1600C>T" "r.(?)" "p.(Arg534Ter)" "" "0000944554" "00014291" "90" "1600" "0" "1600" "0" "c.1600C>T" "r.(?)" "p.(Arg534Ter)" "" "0000944555" "00014291" "90" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000944556" "00014291" "90" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000944557" "00014291" "90" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000944558" "00014291" "90" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000944559" "00014291" "90" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000944560" "00014291" "90" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000944561" "00014291" "90" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000944562" "00014291" "90" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000944563" "00014291" "90" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000944564" "00014291" "90" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000944565" "00014291" "90" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000944566" "00014291" "90" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000944567" "00014291" "90" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000944568" "00014291" "90" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000944569" "00014291" "90" "32" "0" "32" "0" "c.32G>C" "r.(?)" "p.(Arg11Pro)" "" "0000944570" "00014291" "90" "1049" "0" "1049" "0" "c.1049T>C" "r.(?)" "p.(Leu350Pro)" "" "0000944571" "00014291" "90" "1067" "0" "1067" "0" "c.1067A>C" "r.(?)" "p.(Asp356Ala)" "" "0000944572" "00014291" "90" "1264" "0" "1264" "0" "c.1264G>A" "r.(?)" "p.(Ala422Thr)" "" "0000944573" "00014291" "90" "203" "0" "203" "0" "c.203dup" "r.(?)" "p.(Met69AspfsTer4)" "" "0000951156" "00014291" "50" "898" "0" "898" "0" "c.898T>A" "r.(?)" "p.(Ser300Thr)" "" "0000951843" "00014291" "50" "1385" "0" "1385" "0" "c.1385T>G" "r.(?)" "p.(Val462Gly)" "" "0000983079" "00014291" "50" "1606" "0" "1606" "0" "c.1606G>A" "r.(?)" "p.(Val536Met)" "" "0000983080" "00014291" "50" "1154" "0" "1154" "0" "c.1154A>G" "r.(?)" "p.(Lys385Arg)" "" "0000983081" "00014291" "50" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Arg364*)" "" "0001004191" "00014291" "50" "1357" "0" "1357" "0" "c.1357C>G" "r.(?)" "p.(Pro453Ala)" "" "0001004192" "00014291" "90" "1067" "0" "1067" "0" "c.1067A>C" "r.(?)" "p.(Asp356Ala)" "" "0001004193" "00014291" "70" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329Gln)" "" "0001004194" "00014291" "50" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Arg249*)" "" "0001004195" "00014291" "30" "703" "0" "703" "0" "c.703A>G" "r.(?)" "p.(Met235Val)" "" "0001004196" "00014291" "50" "322" "0" "322" "0" "c.322A>G" "r.(?)" "p.(Ser108Gly)" "" "0001027134" "00014291" "50" "1189" "0" "1189" "0" "c.1189A>G" "r.(?)" "p.(Ile397Val)" "" "0001042480" "00014291" "50" "1151" "0" "1151" "0" "c.1151C>T" "r.(?)" "p.(Pro384Leu)" "" "0001042481" "00014291" "50" "342" "4" "342" "4" "c.342+4A>G" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 40 "{{screeningid}}" "{{variantid}}" "0000050483" "0000079672" "0000304685" "0000668185" "0000304686" "0000668186" "0000304687" "0000668187" "0000304688" "0000668188" "0000304689" "0000668189" "0000304690" "0000668190" "0000304691" "0000668191" "0000304691" "0000668192" "0000304692" "0000668193" "0000304692" "0000668194" "0000304693" "0000668195" "0000304693" "0000668196" "0000304694" "0000668197" "0000304694" "0000668198" "0000432133" "0000917494" "0000443161" "0000944550" "0000443162" "0000944551" "0000443163" "0000944552" "0000443164" "0000944553" "0000443165" "0000944554" "0000443166" "0000944555" "0000443167" "0000944556" "0000443168" "0000944557" "0000443169" "0000944558" "0000443170" "0000944559" "0000443171" "0000944560" "0000443172" "0000944561" "0000443173" "0000944562" "0000443174" "0000944563" "0000443175" "0000944564" "0000443176" "0000944565" "0000443177" "0000944566" "0000443178" "0000944567" "0000443179" "0000944568" "0000443180" "0000944569" "0000443181" "0000944570" "0000443181" "0000944572" "0000443182" "0000944571" "0000443182" "0000944573"