### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FARS2) # 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}}" "FARS2" "phenylalanyl-tRNA synthetase 2, mitochondrial" "6" "p25.1" "unknown" "NC_000006.11" "UD_132438270223" "" "http://www.LOVD.nl/FARS2" "" "1" "21062" "10667" "611592" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/FARS2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2015-10-28 17:49:43" "00006" "2026-02-17 13:32:06" ## 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}}" "00000456" "FARS2" "phenylalanyl-tRNA synthetase 2, mitochondrial" "001" "NM_006567.3" "" "NP_006558.1" "" "" "" "-331" "1510" "1356" "5261584" "5771816" "00000" "2012-09-13 12:18:20" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{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" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00325" "SPG" "paraplegia, spastic (SPG)" "" "" "" "" "" "00006" "2014-02-15 22:29:17" "00006" "2016-11-28 13:01:43" "00847" "COXPD14" "oxidative phosphorylation deficiency, combined, type 14 (COXPD-14)" "AR" "614946" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02554" "metabolic disease" "metabolic disease" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2026-02-16 15:43:43" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06696" "SPG77" "Spastic paraplegia 77, autosomal recessive" "AR" "617046" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "FARS2" "00139" "FARS2" "00847" "FARS2" "06696" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00052956" "" "" "" "4" "" "01427" "" "" "rM" "yes" "China" ">30y" "0" "" "" "Chinese" "" "00361570" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "11DG0069" "00387695" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 or more affected individuals" "" "" "" "" "0" "" "" "" "G012" "00414055" "" "" "" "1" "" "03208" "Pennings et al. 2022, in progress" "" "M" "" "Netherlands" "" "0" "" "" "" "AR3" "00421533" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "207860" "00467776" "" "" "" "2" "" "00006" "{PMID:Charng 2016:27435318}" "family, 2 affected" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam030PatBAB6824" "00472443" "" "" "" "1" "" "00006" "{PMID:Braco-Alonso 2019:31683770}, {PMID:Soriano-Sexto 2026:41588148}" "" "" "" "Spain" "" "0" "" "" "" "Pat15;Pat1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00052956" "00325" "00361570" "00139" "00387695" "00139" "00414055" "00000" "00421533" "06696" "00467776" "05611" "00472443" "02554" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00325, 00847, 01157, 02554, 05611, 06696 ## Count = 9 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "0000039681" "00325" "00052956" "01427" "Familial, autosomal recessive" "30y" "Pure HSP phenotype including progressive lower limb spasticity, pyramidal weakness with hyperreflexia, extensor plantar reponses, and scissors gait." "01y" "" "" "" "" "" "" "" "" "0000256975" "00139" "00361570" "00006" "Familial, autosomal recessive" "1y8m" "syndromic; global developmental delay, mitochondrial encephalomyopathy" "" "" "" "" "" "" "" "" "intellectual disability" "0000281263" "00139" "00387695" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly, epilepsy" "" "" "" "" "" "" "" "" "intellectual disability" "0000305956" "00000" "00414055" "03208" "Familial, autosomal recessive" "" "dystonia, progressive bipiramidal syndrome, gait disturbances" "" "" "" "" "" "" "" "" "" "0000312769" "06696" "00421533" "01164" "Familial, autosomal recessive" "02y" "Hypotonia, Motor delay, Lower limb muscle weakness, Impaired pain sensation, Abnormal pyramidal sign, Delayed speech and language development, Joint hypermobility" "" "" "" "" "" "" "" "" "" "0000352929" "05611" "00467776" "00006" "Familial, autosomal recessive" "" "syndromic BM, normal corpus callosum, cortical dysgenesis, microcephaly, no hindbrain malformation, no white matter abnormalities, no syndromic developmental delay/intellectual disability" "" "" "" "" "" "" "" "COXPD14" "neurodevelopmental disorder" "0000357253" "02554" "00472443" "00006" "Familial, autosomal recessive" "27y" "metabolic acidosis (HP:0001942); hyponatremia (HP:0002902); global developmental delay (HP:0001263); generalized hypotonia (HP:0001290); seizures (HP:0001250); abnormality of extrapyramidal motor function (HP:0002071); EEG with abnormally slow frequencies (HP:0011203); intraventricular haemorrhage (HP:0030746); abnormal delivery (HP:0001787) (foetal suffering)" "" "" "" "" "" "" "" "" "congenital lactic acidosis" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000052904" "00052956" "1" "01427" "01427" "2015-10-28 09:38:30" "" "" "arrayCGH;SEQ-NG" "DNA" "blood" "" "0000362798" "00361570" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000388926" "00387695" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000415334" "00414055" "1" "03208" "00006" "2022-07-27 10:49:59" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000422844" "00421533" "1" "01164" "01164" "2022-11-07 13:39:39" "" "" "SEQ-NG-I" "DNA" "" "" "0000469442" "00467776" "1" "00006" "00006" "2025-10-30 10:25:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474111" "00472443" "1" "00006" "00006" "2026-02-16 15:46:49" "00006" "2026-02-16 16:04:58" "RT-PCR;SEQ;SEQ-ON;SEQ-NG" "DNA;RNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000052904" "FARS2" "0000362798" "FARS2" "0000388926" "FARS2" "0000422844" "FARS2" "0000474111" "FARS2" ## 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 = 48 "{{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}}" "0000002403" "3" "50" "6" "5608856" "5608856" "del" "0" "00037" "FARS2_000018" "g.5608856del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5608623del" "" "VUS" "" "0000002404" "3" "50" "6" "5609133" "5609133" "dup" "0" "00037" "FARS2_000021" "g.5609133dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5608900dup" "" "VUS" "" "0000004276" "0" "50" "6" "5608698" "5608698" "subst" "0" "00037" "FARS2_000016" "g.5608698A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5608465A>G" "" "VUS" "" "0000004277" "0" "50" "6" "5608766" "5608766" "subst" "0" "00037" "FARS2_000017" "g.5608766C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5608533C>A" "" "VUS" "" "0000004278" "0" "50" "6" "5609272" "5609272" "subst" "0" "00037" "FARS2_000003" "g.5609272T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5609039T>C" "" "VUS" "" "0000004279" "0" "50" "6" "5609439" "5609439" "subst" "0" "00037" "FARS2_000005" "g.5609439C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5609206C>A" "" "VUS" "" "0000004280" "0" "50" "6" "5609440" "5609440" "subst" "0" "00037" "FARS2_000006" "g.5609440G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5609207G>T" "" "VUS" "" "0000004281" "0" "50" "6" "5609481" "5609481" "subst" "0" "00037" "FARS2_000007" "g.5609481T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5609248T>A" "" "VUS" "" "0000004282" "0" "50" "6" "5609504" "5609504" "subst" "0" "00037" "FARS2_000008" "g.5609504T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5609271T>C" "" "VUS" "" "0000004283" "0" "50" "6" "5609536" "5609536" "subst" "0" "00037" "FARS2_000010" "g.5609536A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5609303A>T" "" "VUS" "" "0000004284" "3" "50" "6" "5609666" "5609666" "subst" "0" "00037" "FARS2_000011" "g.5609666A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5609433A>T" "" "VUS" "" "0000004285" "0" "50" "6" "5609691" "5609691" "subst" "0" "00037" "FARS2_000001" "g.5609691A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5609458A>G" "" "VUS" "" "0000010430" "0" "50" "6" "5608856" "5608856" "del" "0" "00037" "FARS2_000018" "g.5608856del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5608623del" "" "VUS" "" "0000010431" "0" "50" "6" "5609133" "5609133" "dup" "0" "00037" "FARS2_000021" "g.5609133dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5608900dup" "" "VUS" "" "0000010432" "0" "50" "6" "5610544" "5610544" "dup" "0" "00037" "FARS2_000020" "g.5610544dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5610311dup" "" "VUS" "" "0000012258" "0" "50" "6" "5608571" "5608571" "subst" "0" "00037" "FARS2_000015" "g.5608571C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5608338C>G" "" "VUS" "" "0000012259" "0" "50" "6" "5609272" "5609272" "subst" "0" "00037" "FARS2_000003" "g.5609272T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5609039T>C" "" "VUS" "" "0000012260" "0" "50" "6" "5609504" "5609504" "subst" "0" "00037" "FARS2_000008" "g.5609504T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5609271T>C" "" "VUS" "" "0000012261" "0" "50" "6" "5609666" "5609666" "subst" "0" "00037" "FARS2_000011" "g.5609666A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5609433A>T" "" "VUS" "" "0000012262" "0" "50" "6" "5609691" "5609691" "subst" "0" "00037" "FARS2_000001" "g.5609691A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5609458A>G" "" "VUS" "" "0000082525" "3" "70" "6" "5369227" "5369227" "subst" "4.06372E-6" "01427" "FARS2_000022" "g.5369227G>T" "" "" "" "g.107644G>T" "" "Germline" "yes" "" "0" "" "" "g.5368994G>T" "" "likely pathogenic" "" "0000248861" "0" "10" "6" "5431340" "5431340" "subst" "0.22133" "02325" "FARS2_000023" "g.5431340A>G" "" "" "" "FARS2(NM_006567.5):c.839A>G (p.N280S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5431107A>G" "" "benign" "" "0000330805" "0" "50" "6" "5369209" "5369209" "subst" "0" "01804" "FARS2_000024" "g.5369209C>T" "" "" "" "FARS2(NM_006567.3):c.406C>T (p.(Pro136Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5368976C>T" "" "VUS" "" "0000529135" "0" "30" "6" "5404899" "5404899" "subst" "0.00410791" "01943" "FARS2_000026" "g.5404899C>T" "" "" "" "FARS2(NM_001318872.1):c.737C>T (p.T246M), FARS2(NM_006567.5):c.737C>T (p.T246M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5404666C>T" "" "likely benign" "" "0000621722" "0" "30" "6" "5369409" "5369409" "subst" "0.00134722" "01943" "FARS2_000027" "g.5369409G>A" "" "" "" "FARS2(NM_001318872.1):c.606G>A (p.K202=), FARS2(NM_001318872.2):c.606G>A (p.K202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5369176G>A" "" "likely benign" "" "0000677811" "0" "50" "6" "5369005" "5369005" "subst" "2.44143E-5" "01943" "FARS2_000028" "g.5369005C>T" "" "" "" "FARS2(NM_001318872.1):c.202C>T (p.R68W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677812" "0" "30" "6" "5369409" "5369409" "subst" "0.00134722" "02326" "FARS2_000027" "g.5369409G>A" "" "" "" "FARS2(NM_001318872.1):c.606G>A (p.K202=), FARS2(NM_001318872.2):c.606G>A (p.K202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689758" "0" "50" "6" "5613418" "5613418" "subst" "0.000134542" "02327" "FARS2_000029" "g.5613418C>T" "" "" "" "FARS2(NM_006567.5):c.1082C>T (p.(Pro361Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000763172" "3" "90" "6" "5369234" "5369234" "subst" "0" "00006" "FARS2_000030" "g.5369234A>G" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PS1, PS4, PM2, PP1, PP3" "Germline" "" "" "0" "" "" "g.5369001A>G" "" "pathogenic" "ACMG" "0000802643" "0" "30" "6" "5431320" "5431320" "subst" "4.06382E-5" "01943" "FARS2_000031" "g.5431320T>A" "" "" "" "FARS2(NM_001318872.1):c.819T>A (p.P273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000817719" "3" "50" "6" "5369392" "5369392" "subst" "3.74227E-5" "00006" "FARS2_000032" "g.5369392G>A" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.5369159G>A" "" "VUS" "ACMG" "0000860447" "0" "30" "6" "5369157" "5369157" "subst" "0" "01943" "FARS2_000033" "g.5369157A>G" "" "" "" "FARS2(NM_001318872.1):c.354A>G (p.P118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000873165" "0" "50" "6" "5613418" "5613418" "subst" "0.000134542" "03208" "FARS2_000029" "g.5613418C>T" "" "Pennings et al. 2022, in progress" "" "NM_006567.5:c.1082C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000887346" "0" "30" "6" "5404899" "5404899" "subst" "0.00410791" "02326" "FARS2_000026" "g.5404899C>T" "" "" "" "FARS2(NM_001318872.1):c.737C>T (p.T246M), FARS2(NM_006567.5):c.737C>T (p.T246M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000898093" "11" "90" "6" "5613418" "5613418" "subst" "0.000134542" "01164" "FARS2_000029" "g.5613418C>T" "" "PMID: 35794642, 29126765, 32007496" "" "" "ACMG: PS4, PS3_MOD, PM3, PM2_SUP, PP3" "Germline" "-" "" "" "" "" "" "VCV000214335.15" "pathogenic (recessive)" "ACMG" "0000898094" "21" "90" "6" "5404932" "5404932" "del" "0" "01164" "FARS2_000034" "g.5404932del" "" "" "" "" "ACMG: PVS1, PM3, PM2_SUP" "Germline" "-" "" "0" "" "" "g.5404699del" "" "pathogenic (recessive)" "ACMG" "0000964180" "0" "50" "6" "5369312" "5369312" "subst" "0.000235886" "02325" "FARS2_000035" "g.5369312C>G" "" "" "" "FARS2(NM_006567.5):c.509C>G (p.A170G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977301" "0" "30" "6" "5267676" "5267676" "subst" "0" "01804" "FARS2_000036" "g.5267676A>G" "" "" "" "FARS2(NM_001375257.1):c.-102A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977302" "0" "30" "6" "5267764" "5267764" "subst" "0" "01804" "FARS2_000037" "g.5267764A>T" "" "" "" "FARS2(NM_001375257.1):c.-22+8A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977306" "0" "50" "6" "5545479" "5545479" "subst" "0.000150376" "01804" "FARS2_000038" "g.5545479A>G" "" "" "" "FARS2(NM_006567.5):c.971A>G (p.(Tyr324Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995818" "0" "30" "6" "5369300" "5369300" "subst" "0.000142291" "01804" "FARS2_000039" "g.5369300C>T" "" "" "" "FARS2(NM_006567.3):c.497C>T (p.(Ala166Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035843" "0" "50" "6" "5265216" "5265218" "dup" "0" "01804" "FARS2_000040" "g.5265216_5265218dup" "" "" "" "FARS2(NM_001374879.1):c.-110-7_-110-5dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035850" "0" "50" "6" "5369212" "5369212" "subst" "4.06326E-6" "01804" "FARS2_000041" "g.5369212A>G" "" "" "" "FARS2(NM_006567.5):c.409A>G (p.(Ser137Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049740" "3" "90" "6" "5369234" "5369234" "subst" "0" "00006" "FARS2_000030" "g.5369234A>G" "" "{PMID:Charng 2016:27435318}" "" "" "ACMG PS1, PS3, PM1, PM2" "Germline" "" "" "0" "" "" "g.5369001A>G" "" "pathogenic (recessive)" "" "0001052247" "0" "90" "6" "5613418" "5613418" "subst" "0.000134542" "01804" "FARS2_000029" "g.5613418C>T" "" "" "" "FARS2(NM_006567.5):c.1082C>T (p.(Pro361Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001068284" "1" "30" "6" "5404899" "5404899" "subst" "0.00410791" "00006" "FARS2_000026" "g.5404899C>T" "" "{PMID:Braco-Alonso 2019:31683770}, {PMID:Soriano-Sexto 2026:41588148}" "" "" "ACMG BS2, BP6" "Germline/De novo (untested)" "" "" "0" "" "" "g.5404666C>T" "" "likely benign" "ACMG" "0001068285" "1" "70" "6" "5613418" "5613418" "subst" "0.000134542" "00006" "FARS2_000029" "g.5613418C>T" "" "{PMID:Braco-Alonso 2019:31683770}, {PMID:Soriano-Sexto 2026:41588148}" "" "" "ACMG PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.5613185C>T" "" "VUS" "ACMG" "0001068286" "0" "70" "6" "5539672" "5546689" "dup" "0" "00006" "FARS2_000042" "g.5539672_5546689dup" "" "{PMID:Soriano-Sexto 2026:41588148}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.5539439_5546456dup" "" "likely pathogenic (recessive)" "" ## 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 FARS2 ## Count = 48 "{{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}}" "0000002403" "00000456" "50" "1066" "-4546" "1066" "-4546" "c.1066-4546del" "r.(=)" "p.(=)" "" "0000002404" "00000456" "50" "1066" "-4269" "1066" "-4269" "c.1066-4269dup" "r.(=)" "p.(=)" "" "0000004276" "00000456" "50" "1066" "-4704" "1066" "-4704" "c.1066-4704A>G" "r.(=)" "p.(=)" "" "0000004277" "00000456" "50" "1066" "-4636" "1066" "-4636" "c.1066-4636C>A" "r.(=)" "p.(=)" "" "0000004278" "00000456" "50" "1066" "-4130" "1066" "-4130" "c.1066-4130T>C" "r.(=)" "p.(=)" "" "0000004279" "00000456" "50" "1066" "-3963" "1066" "-3963" "c.1066-3963C>A" "r.(=)" "p.(=)" "" "0000004280" "00000456" "50" "1066" "-3962" "1066" "-3962" "c.1066-3962G>T" "r.(=)" "p.(=)" "" "0000004281" "00000456" "50" "1066" "-3921" "1066" "-3921" "c.1066-3921T>A" "r.(=)" "p.(=)" "" "0000004282" "00000456" "50" "1066" "-3898" "1066" "-3898" "c.1066-3898T>C" "r.(=)" "p.(=)" "" "0000004283" "00000456" "50" "1066" "-3866" "1066" "-3866" "c.1066-3866A>T" "r.(=)" "p.(=)" "" "0000004284" "00000456" "50" "1066" "-3736" "1066" "-3736" "c.1066-3736A>T" "r.(=)" "p.(=)" "" "0000004285" "00000456" "50" "1066" "-3711" "1066" "-3711" "c.1066-3711A>G" "r.(=)" "p.(=)" "" "0000010430" "00000456" "50" "1066" "-4546" "1066" "-4546" "c.1066-4546del" "r.(=)" "p.(=)" "" "0000010431" "00000456" "50" "1066" "-4269" "1066" "-4269" "c.1066-4269dup" "r.(=)" "p.(=)" "" "0000010432" "00000456" "50" "1066" "-2858" "1066" "-2858" "c.1066-2858dup" "r.(=)" "p.(=)" "" "0000012258" "00000456" "50" "1066" "-4831" "1066" "-4831" "c.1066-4831C>G" "r.(=)" "p.(=)" "" "0000012259" "00000456" "50" "1066" "-4130" "1066" "-4130" "c.1066-4130T>C" "r.(=)" "p.(=)" "" "0000012260" "00000456" "50" "1066" "-3898" "1066" "-3898" "c.1066-3898T>C" "r.(=)" "p.(=)" "" "0000012261" "00000456" "50" "1066" "-3736" "1066" "-3736" "c.1066-3736A>T" "r.(=)" "p.(=)" "" "0000012262" "00000456" "50" "1066" "-3711" "1066" "-3711" "c.1066-3711A>G" "r.(=)" "p.(=)" "" "0000082525" "00000456" "70" "424" "0" "424" "0" "c.424G>T" "r.(?)" "p.(Asp142Tyr)" "2" "0000248861" "00000456" "10" "839" "0" "839" "0" "c.839A>G" "r.(?)" "p.(Asn280Ser)" "" "0000330805" "00000456" "50" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Pro136Ser)" "" "0000529135" "00000456" "30" "737" "0" "737" "0" "c.737C>T" "r.(?)" "p.(Thr246Met)" "" "0000621722" "00000456" "30" "606" "0" "606" "0" "c.606G>A" "r.(?)" "p.(Lys202=)" "" "0000677811" "00000456" "50" "202" "0" "202" "0" "c.202C>T" "r.(?)" "p.(Arg68Trp)" "" "0000677812" "00000456" "30" "606" "0" "606" "0" "c.606G>A" "r.(?)" "p.(Lys202=)" "" "0000689758" "00000456" "50" "1082" "0" "1082" "0" "c.1082C>T" "r.(?)" "p.(Pro361Leu)" "" "0000763172" "00000456" "90" "431" "0" "431" "0" "c.431A>G" "r.(?)" "p.(Tyr144Cys)" "" "0000802643" "00000456" "30" "819" "0" "819" "0" "c.819T>A" "r.(?)" "p.(Pro273=)" "" "0000817719" "00000456" "50" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Val197Met)" "" "0000860447" "00000456" "30" "354" "0" "354" "0" "c.354A>G" "r.(?)" "p.(Pro118=)" "" "0000873165" "00000456" "50" "1082" "0" "1082" "0" "c.1082C>T" "r.(?)" "p.(Pro361Leu)" "" "0000887346" "00000456" "30" "737" "0" "737" "0" "c.737C>T" "r.(?)" "p.(Thr246Met)" "" "0000898093" "00000456" "90" "1082" "0" "1082" "0" "c.1082C>T" "r.(?)" "p.(Pro361Leu)" "" "0000898094" "00000456" "90" "770" "0" "770" "0" "c.770del" "r.(?)" "p.(Asp257Valfs*5)" "" "0000964180" "00000456" "50" "509" "0" "509" "0" "c.509C>G" "r.(?)" "p.(Ala170Gly)" "" "0000977301" "00000456" "30" "-22" "5783" "-22" "5783" "c.-22+5783A>G" "r.(=)" "p.(=)" "" "0000977302" "00000456" "30" "-22" "5871" "-22" "5871" "c.-22+5871A>T" "r.(=)" "p.(=)" "" "0000977306" "00000456" "50" "971" "0" "971" "0" "c.971A>G" "r.(?)" "p.(Tyr324Cys)" "" "0000995818" "00000456" "30" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Ala166Val)" "" "0001035843" "00000456" "50" "-22" "3323" "-22" "3325" "c.-22+3323_-22+3325dup" "r.(=)" "p.(=)" "" "0001035850" "00000456" "50" "409" "0" "409" "0" "c.409A>G" "r.(?)" "p.(Ser137Gly)" "" "0001049740" "00000456" "90" "431" "0" "431" "0" "c.431A>G" "r.(?)" "p.(Tyr144Cys)" "" "0001052247" "00000456" "90" "1082" "0" "1082" "0" "c.1082C>T" "r.(?)" "p.(Pro361Leu)" "" "0001068284" "00000456" "30" "737" "0" "737" "0" "c.737C>T" "r.737C>T" "p.Thr246Met" "" "0001068285" "00000456" "70" "1082" "0" "1082" "0" "c.1082C>T" "r.1082C>T" "p.Pro361Leu" "" "0001068286" "00000456" "70" "905" "-5741" "1065" "1116" "c.905-5741_1065+1116dup" "r..49_904del" "p.?" "4i_5i" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 30 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002403" "0000000209" "0000002404" "0000000209" "0000004276" "0000000209" "0000004277" "0000000209" "0000004278" "0000000209" "0000004279" "0000000209" "0000004280" "0000000209" "0000004281" "0000000209" "0000004282" "0000000209" "0000004283" "0000000209" "0000004284" "0000000209" "0000004285" "0000000210" "0000010430" "0000000210" "0000010431" "0000000210" "0000010432" "0000000210" "0000012258" "0000000210" "0000012259" "0000000210" "0000012260" "0000000210" "0000012261" "0000000210" "0000012262" "0000052904" "0000082525" "0000362798" "0000763172" "0000388926" "0000817719" "0000415334" "0000873165" "0000422844" "0000898093" "0000422844" "0000898094" "0000469442" "0001049740" "0000474111" "0001068284" "0000474111" "0001068285" "0000474111" "0001068286"