### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FTSJ1) # 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}}" "FTSJ1" "FtsJ RNA methyltransferase homolog 1 (E. coli)" "X" "p11.23" "no" "NC_000023.10" "UD_132085249344" "" "http://www.LOVD.nl/FTSJ1" "" "1" "13254" "24140" "300499" "1" "1" "1" "1" "Establishment of this gene variant database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/FTSJ1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2025-06-08 11:41:11" "00006" "2025-06-10 16:20:08" ## 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}}" "00001234" "FTSJ1" "FtsJ homolog 1 (E. coli), transcript variant 1" "002" "NM_012280.2" "" "NP_036412.1" "" "" "" "-323" "1628" "990" "48334549" "48344752" "00000" "2012-09-13 13:20:34" "" "" ## 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" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "01118" "XLID9;MRX9" "intellectual developmental disorder, X-linked, type 9" "XLR" "309549" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-05-09 10:41:06" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "FTSJ1" "00139" "FTSJ1" "01118" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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" "" "" "" "" "00046590" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377190-Pat?" "00046591" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377191-Pat?" "00046592" "" "" "" "6" "" "01362" "{PMID:Guy 2015:26310293}, {DOI:Guy 2015:10.1002/humu.22897}" "4-generation family, 6 affected males. unaffected heterozygous carrier females" "M" "no" "Australia" "" "0" "" "" "" "FamPatIII" "00176998" "" "" "" "6" "" "00006" "{PMID:Freude 2004:15162322}" "4-generation family, 6 affected males, unaffected heterozygous carrier females" "M" "" "Netherlands" "" "0" "" "" "" "FamMRX44" "00176999" "" "" "" "2" "" "00006" "{PMID:Freude 2004:15162322}" "4-generation family, 2 affected males, unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "FamP48" "00177000" "" "" "" "6" "" "00006" "{PMID:Freude 2004:15162322}" "2-generation family, 6 affected males, unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "FamA3" "00177001" "" "" "" "7" "" "00006" "{PMID:Ramser 2004:15342698}" "2-generation family, 7 affected males, unaffected heterozygous carrier females" "M" "" "Belgium" "" "0" "" "" "" "15342698-Fam" "00183090" "" "" "" "3" "" "00006" "{PMID:Froyen 2007:17333282}" "2-generation family, 3 affected brothers, unaffected heterozygous carrier mother" "M" "no" "Germany" "" "0" "" "" "" "17333282-Fam" "00183100" "" "" "" "3" "" "00006" "{PMID:Hu 2016:25644381}" "family, 3 affected, 2 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "FamD46" "00183152" "" "" "" "2" "" "00006" "{PMID:Hu 2016:25644381}" "family, 2 affected, 5 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "25644381-FamAU55" "00386941" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "187140" "00465307" "" "" "" "6" "" "00006" "{PMID:Takano 2008:18081026}" "4-generation family, 6 affected males, unaffected carrier females" "M" "" "Japan" "" "0" "" "" "" "FamMRW06PatIV7" "00465862" "" "" "" "1" "" "00006" "contact me for details" "on behalf of parent" "M" "" "Spain" "" "0" "" "" "" "private email" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00046590" "00187" "00046591" "00187" "00046592" "00187" "00176998" "00187" "00176999" "00187" "00177000" "00187" "00177001" "00187" "00183090" "00139" "00183100" "00187" "00183152" "00187" "00386941" "01118" "00465307" "00139" "00465862" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 01118, 01157 ## Count = 15 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000034281" "00187" "00046590" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "0000034282" "00187" "00046591" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "0000034283" "00187" "00046592" "01362" "Familial, X-linked recessive" "35y" "" "01y06m" "" "" "" "" "" "" "" "MRX-9" "nonsyndromic X-linked intellectual disability" "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" "" "" "" "" "" "" "" "0000141813" "00187" "00176998" "00006" "Familial, X-linked recessive" "" "mild to moderate mental retardation" "" "" "" "" "" "" "" "" "MRX-9" "mental retardation" "0000141815" "00187" "00176999" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MRX-9" "intellectual disability" "0000141816" "00187" "00177000" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MRX-9" "mental retardation" "0000141817" "00187" "00177001" "00006" "Familial, X-linked recessive" "" "see paper; ..., mild to severe non-syndromic X linked mental retardation" "" "" "" "" "" "" "" "" "MRX-9" "mental retardation" "0000143844" "00139" "00183090" "00006" "Familial, X-linked recessive" "" "see paper; ..., moderate to severe mental retardation, no dysmorphic features." "" "" "" "" "" "" "" "" "MRX-9" "non-syndromic mental retardation" "0000143854" "00187" "00183100" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "XLID9" "mental retardation" "0000143906" "00187" "00183152" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "0000280738" "01118" "00386941" "01164" "Unknown" "01y" "Neurodevelopmental delay, Muscular hypotonia, Dystonia, Foot dorsiflexor weakness, Abnormal putamen morphology, Abnormality of the cerebral white matter, Hydrocephalus, Abnormality of the midface" "" "" "" "" "" "" "" "" "" "" "0000350860" "00139" "00465307" "00006" "Familial, X-linked recessive" "14y" "see paper; ...," "" "" "" "" "" "" "" "" "XLID9" "nonsyndromic mental retardation" "0000351311" "00139" "00465862" "00006" "Isolated (sporadic)" "06y" "intellectual disability, some behavioral disorders, happy, cheerful" "" "" "" "" "" "" "" "" "XLID9" "non-syndromic intellectual disability" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{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" "" "" "0000046699" "00046590" "1" "00124" "00006" "2009-04-08 14:01:02" "" "" "SEQ" "DNA" "" "" "0000046700" "00046591" "1" "00124" "00006" "2009-04-08 14:01:02" "" "" "SEQ" "DNA" "" "" "0000046701" "00046592" "1" "01362" "01362" "2015-07-14 02:26:39" "" "" "SEQ" "DNA" "" "" "0000177889" "00176998" "1" "00006" "00006" "2018-08-15 12:48:24" "00006" "2018-08-15 12:55:34" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000177890" "00176999" "1" "00006" "00006" "2018-08-15 12:59:05" "" "" "SEQ" "DNA" "" "" "0000177891" "00177000" "1" "00006" "00006" "2018-08-15 13:02:12" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000177892" "00177001" "1" "00006" "00006" "2018-08-15 13:10:51" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000184048" "00183090" "1" "00006" "00006" "2018-10-13 20:44:36" "" "" "arrayCGH;PCR" "DNA" "" "" "0000184058" "00183100" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000184110" "00183152" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000388168" "00386941" "1" "01164" "01164" "2021-10-27 16:40:30" "" "" "SEQ-NG-I" "DNA" "" "" "0000466955" "00465307" "1" "00006" "00006" "2025-05-09 10:47:42" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000467513" "00465862" "1" "00006" "00006" "2025-06-08 11:58:28" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000046699" "FTSJ1" "0000046700" "FTSJ1" "0000046701" "FTSJ1" "0000177889" "FTSJ1" "0000177890" "FTSJ1" "0000177891" "FTSJ1" "0000177892" "FTSJ1" "0000184048" "FTSJ1" "0000184058" "FTSJ1" "0000184110" "FTSJ1" "0000388168" "FTSJ1" "0000466955" "FTSJ1" ## 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 = 45 "{{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}}" "0000001918" "20" "30" "X" "48343889" "48343890" "ins" "0" "00037" "FTSJ1_000004" "g.48343889_48343890insTAG" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48485501_48485502insTAG" "" "likely benign" "" "0000006795" "20" "30" "X" "48339287" "48339287" "subst" "0" "00037" "FTSJ1_000005" "g.48339287G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48480899G>A" "" "likely benign" "" "0000010945" "20" "30" "X" "48343889" "48343890" "ins" "0" "00037" "FTSJ1_000004" "g.48343889_48343890insTAG" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48485501_48485502insTAG" "" "likely benign" "" "0000014763" "20" "30" "X" "48339287" "48339287" "subst" "0" "00037" "FTSJ1_000005" "g.48339287G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48480899G>A" "" "likely benign" "" "0000074569" "1" "50" "X" "48340841" "48340841" "subst" "0" "00124" "FTSJ1_000001" "g.48340841G>A" "1/208 families" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.48482453G>A" "" "VUS" "" "0000074570" "1" "30" "X" "48340873" "48340873" "subst" "0.00135917" "00124" "FTSJ1_000002" "g.48340873G>A" "1/208 families" "{PMID:Tarpey 2009:19377476}" "" "S246S" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.48482485G>A" "" "likely benign" "" "0000074571" "21" "90" "X" "48336511" "48336511" "subst" "0" "01362" "FTSJ1_000003" "g.48336511G>C" "" "{PMID:Guy 2015:26310293}, {DOI:Guy 2015:10.1002/humu.22897}" "" "" "variant functionally analysed" "Germline" "yes" "" "0" "" "" "g.48478123G>C" "" "pathogenic (recessive)" "" "0000280930" "0" "10" "X" "48339840" "48339840" "subst" "0.00460822" "02325" "FTSJ1_000009" "g.48339840C>T" "" "" "" "FTSJ1(NM_177439.3):c.495C>T (p.L165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48481452C>T" "" "benign" "" "0000287976" "0" "10" "X" "48337450" "48337450" "subst" "0.00155687" "01943" "FTSJ1_000008" "g.48337450C>G" "" "" "" "FTSJ1(NM_001282157.1):c.-52C>G (p.(=)), FTSJ1(NM_177439.2):c.307C>G (p.Q103E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48479062C>G" "" "benign" "" "0000287977" "0" "30" "X" "48340994" "48340994" "subst" "0" "01943" "FTSJ1_000011" "g.48340994G>A" "" "" "" "FTSJ1(NM_177439.2):c.763G>A (p.G255S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48482606G>A" "" "likely benign" "" "0000287978" "0" "30" "X" "48341011" "48341011" "subst" "0" "01943" "FTSJ1_000012" "g.48341011C>T" "" "" "" "FTSJ1(NM_177439.2):c.780C>T (p.Y260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48482623C>T" "" "likely benign" "" "0000333980" "0" "70" "X" "48336872" "48336872" "subst" "0" "01804" "FTSJ1_000006" "g.48336872G>A" "" "" "" "FTSJ1(NM_012280.2):c.157G>A (p.(Gly53Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48478484G>A" "" "likely pathogenic" "" "0000333981" "0" "50" "X" "48337447" "48337447" "subst" "0.000425644" "01804" "FTSJ1_000007" "g.48337447A>T" "" "" "" "FTSJ1(NM_012280.2):c.304A>T (p.(Ile102Phe)), FTSJ1(NM_177439.2):c.304A>T (p.I102F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48479059A>T" "" "VUS" "" "0000342412" "0" "50" "X" "48336506" "48336506" "subst" "0" "02327" "FTSJ1_000013" "g.48336506G>A" "" "" "" "FTSJ1(NM_012280.4):c.71G>A (p.(Arg24His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48478118G>A" "" "VUS" "" "0000345209" "0" "90" "X" "48340103" "48340103" "subst" "0" "02327" "FTSJ1_000015" "g.48340103G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48481715G>A" "" "pathogenic" "" "0000347423" "0" "50" "X" "48339705" "48339705" "subst" "0" "02327" "FTSJ1_000014" "g.48339705A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48481317A>T" "" "VUS" "" "0000400763" "21" "90" "X" "48340103" "48340103" "subst" "0" "00006" "FTSJ1_000015" "g.48340103G>A" "" "{PMID:Freude 2004:15162322}" "" "Asp219Asn" "sequence Fig.2 does not show r.572_655del but r.572_661del might be because transcript NM_177439.1 or NM_177434.1 was amplified" "Germline" "yes" "" "0" "" "" "g.48481715G>A" "" "pathogenic (recessive)" "" "0000400764" "21" "90" "X" "48337009" "48337009" "subst" "0" "00006" "FTSJ1_000016" "g.48337009C>T" "" "{PMID:Freude 2004:15162322}" "" "" "" "Germline" "" "" "0" "" "" "g.48478621C>T" "" "pathogenic (recessive)" "" "0000400765" "21" "90" "X" "48336557" "48336557" "del" "0" "00006" "FTSJ1_000017" "g.48336557del" "" "{PMID:Freude 2004:15162322}" "" "IVS2+1delG" "" "Germline" "yes" "" "0" "" "" "g.48478169del" "" "pathogenic (recessive)" "" "0000400766" "21" "90" "X" "48337003" "48337003" "subst" "0" "00006" "FTSJ1_000018" "g.48337003A>G" "" "{PMID:Ramser 2004:15342698}" "" "IVS3-2A>G" "" "Germline" "yes" "" "0" "" "" "g.48478615A>G" "" "pathogenic (recessive)" "" "0000408017" "21" "90" "X" "48307157" "48336450" "del" "0" "00006" "FTSJ1_000019" "g.48307157_48336450del" "" "{PMID:Froyen 2007:17333282}" "" "" "" "Germline" "yes" "" "0" "" "" "g.48448786_48478079del" "" "pathogenic (recessive)" "" "0000408027" "21" "90" "X" "48337492" "48337492" "subst" "0" "00006" "FTSJ1_000020" "g.48337492G>A" "" "{PMID:Hu 2016:25644381}" "" "FTSJ1 G117R" "" "Germline" "yes" "" "0" "" "" "g.48479104G>A" "" "pathogenic" "" "0000408079" "21" "90" "X" "48336511" "48336511" "subst" "0" "00006" "FTSJ1_000003" "g.48336511G>C" "" "{PMID:Hu 2016:25644381}" "" "FTSJ1 A26P" "" "Germline" "yes" "" "0" "" "" "g.48478123G>C" "" "pathogenic" "" "0000576205" "0" "30" "X" "48334787" "48334787" "subst" "0" "01943" "FTSJ1_000021" "g.48334787G>A" "" "" "" "FTSJ1(NM_177439.2):c.-194+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48476399G>A" "" "likely benign" "" "0000576206" "0" "30" "X" "48337450" "48337450" "subst" "0.00155687" "01804" "FTSJ1_000008" "g.48337450C>G" "" "" "" "FTSJ1(NM_001282157.1):c.-52C>G (p.(=)), FTSJ1(NM_177439.2):c.307C>G (p.Q103E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48479062C>G" "" "likely benign" "" "0000576207" "0" "30" "X" "48337468" "48337468" "subst" "0.000223939" "01943" "FTSJ1_000022" "g.48337468C>T" "" "" "" "FTSJ1(NM_177439.2):c.325C>T (p.P109S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48479080C>T" "" "likely benign" "" "0000576208" "0" "30" "X" "48337477" "48337477" "subst" "8.39645E-5" "01804" "FTSJ1_000023" "g.48337477C>G" "" "" "" "FTSJ1(NM_012280.2):c.334C>G (p.(Leu112Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48479089C>G" "" "likely benign" "" "0000576209" "0" "50" "X" "48339565" "48339565" "subst" "0" "01804" "FTSJ1_000024" "g.48339565T>C" "" "" "" "FTSJ1(NM_012280.2):c.388T>C (p.(Tyr130His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48481177T>C" "" "VUS" "" "0000576210" "0" "30" "X" "48340012" "48340012" "subst" "0.00750688" "01804" "FTSJ1_000025" "g.48340012C>T" "" "" "" "FTSJ1(NM_001282157.1):c.161-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48481624C>T" "" "likely benign" "" "0000576211" "0" "70" "X" "48341183" "48341183" "subst" "0" "02327" "FTSJ1_000026" "g.48341183G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48482795G>A" "" "likely pathogenic" "" "0000619617" "0" "30" "X" "48341062" "48341062" "subst" "7.25225E-5" "01943" "FTSJ1_000028" "g.48341062G>A" "" "" "" "FTSJ1(NM_177439.2):c.831G>A (p.T277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48482674G>A" "" "likely benign" "" "0000624632" "0" "30" "X" "48337083" "48337083" "subst" "0.00136975" "01943" "FTSJ1_000027" "g.48337083G>T" "" "" "" "FTSJ1(NM_177439.2):c.270G>T (p.G90=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48478695G>T" "" "likely benign" "" "0000682468" "0" "30" "X" "48337447" "48337447" "subst" "0.000425644" "01943" "FTSJ1_000007" "g.48337447A>T" "" "" "" "FTSJ1(NM_012280.2):c.304A>T (p.(Ile102Phe)), FTSJ1(NM_177439.2):c.304A>T (p.I102F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682469" "0" "30" "X" "48340054" "48340054" "subst" "1.1254E-5" "01943" "FTSJ1_000029" "g.48340054C>T" "" "" "" "FTSJ1(NM_177439.2):c.606C>T (p.P202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693615" "0" "30" "X" "48336339" "48336339" "subst" "0" "01943" "FTSJ1_000030" "g.48336339C>T" "" "" "" "FTSJ1(NM_177439.2):c.-87-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728955" "0" "30" "X" "48340102" "48340102" "subst" "0.000863376" "01943" "FTSJ1_000010" "g.48340102C>T" "" "" "" "FTSJ1(NM_177439.2):c.654C>T (p.Y218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810442" "0" "30" "X" "48340873" "48340873" "subst" "0.00135917" "01943" "FTSJ1_000002" "g.48340873G>A" "" "" "" "FTSJ1(NM_177439.2):c.732G>A (p.S244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810443" "0" "30" "X" "48341097" "48341097" "subst" "9.40054E-5" "01943" "FTSJ1_000031" "g.48341097G>A" "" "" "" "FTSJ1(NM_177439.2):c.866G>A (p.R289H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810444" "0" "30" "X" "48341150" "48341150" "subst" "0" "01943" "FTSJ1_000032" "g.48341150G>A" "" "" "" "FTSJ1(NM_177439.2):c.919G>A (p.A307T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000816613" "0" "50" "X" "48337100" "48337100" "subst" "0" "01164" "FTSJ1_000033" "g.48337100G>A" "" "" "" "" "ACMG: PM2_SUP, PP3" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000896255" "0" "50" "X" "48336846" "48336846" "subst" "5.6428E-6" "02329" "FTSJ1_000034" "g.48336846G>A" "" "" "" "FTSJ1(NM_177439.3):c.131G>A (p.R44Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984709" "0" "50" "X" "48336506" "48336506" "subst" "0" "01804" "FTSJ1_000013" "g.48336506G>A" "" "" "" "FTSJ1(NM_012280.4):c.71G>A (p.(Arg24His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044356" "0" "30" "X" "48340897" "48340897" "subst" "0" "01804" "FTSJ1_000036" "g.48340897G>A" "" "" "" "FTSJ1(NM_012280.4):c.759+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044602" "21" "90" "X" "48339917" "48339917" "subst" "0" "00006" "FTSJ1_000035" "g.48339917G>A" "1/73 cases" "{PMID:Takano 2008:18081026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.48481529G>A" "" "pathogenic (recessive)" "" "0001045328" "0" "90" "X" "48337492" "48337492" "subst" "0" "00006" "FTSJ1_000020" "g.48337492G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.48479104G>A" "" "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 FTSJ1 ## Count = 45 "{{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}}" "0000001918" "00001234" "30" "1000" "-235" "1000" "-234" "c.*10-235_*10-234insTAG" "r.(=)" "p.(=)" "12i" "0000006795" "00001234" "30" "362" "-252" "362" "-252" "c.362-252G>A" "r.(?)" "p.(=)" "5i" "0000010945" "00001234" "30" "1000" "-235" "1000" "-234" "c.*10-235_*10-234insTAG" "r.(=)" "p.(=)" "12i" "0000014763" "00001234" "30" "362" "-252" "362" "-252" "c.362-252G>A" "r.(?)" "p.(=)" "5i" "0000074569" "00001234" "50" "706" "0" "706" "0" "c.706G>A" "r.(?)" "p.(Val236Met)" "10" "0000074570" "00001234" "30" "738" "0" "738" "0" "c.738G>A" "r.(?)" "p.(Ser246=)" "10" "0000074571" "00001234" "90" "76" "0" "76" "0" "c.76G>C" "r.(?)" "p.(Ala26Pro)" "2" "0000280930" "00001234" "10" "495" "0" "495" "0" "c.495C>T" "r.(?)" "p.(Leu165=)" "" "0000287976" "00001234" "10" "307" "0" "307" "0" "c.307C>G" "r.(?)" "p.(Gln103Glu)" "" "0000287977" "00001234" "30" "769" "0" "769" "0" "c.769G>A" "r.(?)" "p.(Gly257Ser)" "" "0000287978" "00001234" "30" "786" "0" "786" "0" "c.786C>T" "r.(?)" "p.(Tyr262=)" "" "0000333980" "00001234" "70" "157" "0" "157" "0" "c.157G>A" "r.(?)" "p.(Gly53Ser)" "" "0000333981" "00001234" "50" "304" "0" "304" "0" "c.304A>T" "r.(?)" "p.(Ile102Phe)" "" "0000342412" "00001234" "50" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" "" "0000345209" "00001234" "90" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Asp219Asn)" "" "0000347423" "00001234" "50" "443" "0" "443" "0" "c.443A>T" "r.(?)" "p.(Lys148Met)" "" "0000400763" "00001234" "90" "655" "0" "655" "0" "c.655G>A" "r.572_655del" "p.Glu191_Tyr218del" "9" "0000400764" "00001234" "90" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Gln66*)" "" "0000400765" "00001234" "90" "121" "1" "121" "1" "c.121+1del" "r.121_122ins121+2_121+11" "p.?" "2i" "0000400766" "00001234" "90" "192" "-2" "192" "-2" "c.192-2A>G" "r.192_282del" "p.?" "3i" "0000408017" "00001234" "90" "-27715" "0" "15" "0" "c.(?_-27715)_(15_*1370)del" "r.0?" "p.0?" "_1_13" "0000408027" "00001234" "00" "349" "0" "349" "0" "c.349G>A" "r.(?)" "p.(Gly117Arg)" "" "0000408079" "00001234" "00" "76" "0" "76" "0" "c.76G>C" "r.(?)" "p.(Ala26Pro)" "" "0000576205" "00001234" "30" "-88" "3" "-88" "3" "c.-88+3G>A" "r.spl?" "p.?" "" "0000576206" "00001234" "30" "307" "0" "307" "0" "c.307C>G" "r.(?)" "p.(Gln103Glu)" "" "0000576207" "00001234" "30" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Pro109Ser)" "" "0000576208" "00001234" "30" "334" "0" "334" "0" "c.334C>G" "r.(?)" "p.(Leu112Val)" "" "0000576209" "00001234" "50" "388" "0" "388" "0" "c.388T>C" "r.(?)" "p.(Tyr130His)" "" "0000576210" "00001234" "30" "572" "-8" "572" "-8" "c.572-8C>T" "r.(=)" "p.(=)" "" "0000576211" "00001234" "70" "957" "1" "957" "1" "c.957+1G>A" "r.spl?" "p.?" "" "0000619617" "00001234" "30" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Thr279=)" "" "0000624632" "00001234" "30" "270" "0" "270" "0" "c.270G>T" "r.(?)" "p.(Gly90=)" "" "0000682468" "00001234" "30" "304" "0" "304" "0" "c.304A>T" "r.(?)" "p.(Ile102Phe)" "" "0000682469" "00001234" "30" "606" "0" "606" "0" "c.606C>T" "r.(?)" "p.(Pro202=)" "" "0000693615" "00001234" "30" "-87" "-10" "-87" "-10" "c.-87-10C>T" "r.(=)" "p.(=)" "" "0000728955" "00001234" "30" "654" "0" "654" "0" "c.654C>T" "r.(?)" "p.(Tyr218=)" "" "0000810442" "00001234" "30" "738" "0" "738" "0" "c.738G>A" "r.(?)" "p.(Ser246=)" "" "0000810443" "00001234" "30" "872" "0" "872" "0" "c.872G>A" "r.(?)" "p.(Arg291His)" "" "0000810444" "00001234" "30" "925" "0" "925" "0" "c.925G>A" "r.(?)" "p.(Ala309Thr)" "" "0000816613" "00001234" "50" "282" "5" "282" "5" "c.282+5G>A" "r.spl?" "p.?" "" "0000896255" "00001234" "50" "131" "0" "131" "0" "c.131G>A" "r.(?)" "p.(Arg44Gln)" "" "0000984709" "00001234" "50" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" "" "0001044356" "00001234" "30" "759" "3" "759" "3" "c.759+3G>A" "r.spl?" "p.?" "" "0001044602" "00001234" "90" "571" "1" "571" "1" "c.571+1G>A" "r.571_572ins[A;571+2_572-1]" "p.[0,Glu191AspfsTer44]" "8i" "0001045328" "00001234" "90" "349" "0" "349" "0" "c.349G>A" "r.(349G>A)" "p.(Gly117Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001918" "0000000209" "0000006795" "0000000210" "0000010945" "0000000210" "0000014763" "0000046699" "0000074569" "0000046700" "0000074570" "0000046701" "0000074571" "0000177889" "0000400763" "0000177890" "0000400764" "0000177891" "0000400765" "0000177892" "0000400766" "0000184048" "0000408017" "0000184058" "0000408027" "0000184110" "0000408079" "0000388168" "0000816613" "0000466955" "0001044602" "0000467513" "0001045328"