### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC9A6) # 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}}" "SLC9A6" "solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6" "X" "q26.3" "unknown" "NG_017160.1" "UD_132118476071" "" "https://www.LOVD.nl/SLC9A6" "" "1" "11079" "10479" "300231" "1" "1" "1" "1" "Alias KIAA0267, NHE6.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/SLC9A6_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2018-06-02 17:40:07" "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}}" "00025986" "SLC9A6" "transcript variant 7 (removed from reference sequence)" "000" "NM_001379110.1" "" "NP_001366039.1" "" "" "MANE select" "-99" "4585" "2040" "1" "1" "00006" "2025-03-14 15:20:52" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{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" "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" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00414" "PD" "Parkinson disease, susceptibility to" "AD;AR;Mu" "168600" "" "" "" "00006" "2014-06-15 21:26:13" "00006" "2023-10-27 16:16:06" "00839" "MRXSCH" "intellectual developmental disorder, X-linked syndromic, Christianson type" "XL" "300243" "" "X-linked dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2025-03-14 15:19:19" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" "07159" "NDPACX" "neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairement" "XLD" "301142" "" "" "" "00006" "2025-03-14 15:20:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "SLC9A6" "00139" "SLC9A6" "00839" "SLC9A6" "07159" ## Individuals ## Do not remove or alter this header ## ## Count = 54 "{{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" "" "" "" "" "00016987" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "Pat?" "00016988" "" "" "" "2" "" "00124" "{PMID:Gilfillan 2008:18342287}, {PMID:Tarpey 2009:19377476}" "3-generation family, 2 affected males, 3 female carriers unaffected" "M" "" "Sweden" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "Fam2" "00016989" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "Pat?" "00016990" "" "" "" "9" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "Pat?" "00016991" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}, {PMID:Christianson 1999:10528855}, {PMID:Gilfillan 2008:18342287}" "family, 2 affected males" "M" "" "South Africa" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "Fam4" "00016992" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "?" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "Pat?" "00016995" "" "" "" "1" "" "00006" "" "" "-" "" "" "" "0" "" "" "-" "" "00016996" "" "" "" "1" "" "00485" "" "" "?" "" "" "" "0" "" "" "?" "" "00016997" "" "" "" "1" "" "00485" "" "" "?" "" "" "" "0" "" "" "?" "" "00016998" "" "" "" "1" "" "00485" "" "" "?" "" "" "" "0" "" "" "?" "" "00016999" "" "" "" "1" "" "00485" "" "" "?" "" "" "" "0" "" "" "?" "" "00017000" "" "" "" "1" "" "00485" "" "" "?" "" "" "" "0" "" "" "?" "" "00017001" "" "" "" "3" "" "00006" "{PMID:Gilfillan 2008:18342287}" "3-generation family, 3 affected males, 3 female carriers unaffected" "M" "" "Norway" "" "0" "" "" "?" "Fam1" "00017002" "" "" "" "3" "" "00006" "{PMID:Gilfillan 2008:18342287}" "3-generation family, 3 affected males, 1 female carrier unaffected" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "?" "Fam3" "00017022" "" "" "" "1" "" "00714" "{PMID:Tzschach 2015:25649377}" "conceived after anonymous egg donation" "M" "" "" "" "0" "" "" "?" "Pat16" "00037149" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00050585" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00164629" "" "" "" "1" "" "00006" "{PMID:Pescosolido 2014:25044251}" "2-generation family, 1 affected" "M" "no" "United States" "" "0" "" "" "" "Fam1" "00164630" "" "" "" "1" "" "00006" "{PMID:Pescosolido 2014:25044251}" "2-generation family, 1 affected" "M" "no" "United States" "" "0" "" "" "" "Fam2" "00164631" "" "" "" "1" "" "00006" "{PMID:Pescosolido 2014:25044251}" "2-generation family, 1 affected" "M" "no" "United States" "" "0" "" "" "" "Fam3" "00164632" "" "" "" "1" "" "00006" "{PMID:Pescosolido 2014:25044251}" "2-generation family, 1 affected" "M" "no" "United States" "" "0" "" "" "" "Fam4" "00164633" "" "" "" "1" "" "00006" "{PMID:Pescosolido 2014:25044251}" "2-generation family, 1 affected" "M" "no" "United States" "" "0" "" "" "" "Fam5" "00164634" "" "" "" "1" "" "00006" "{PMID:Pescosolido 2014:25044251}" "2-generation family, 1 affected" "M" "no" "United States" "" "0" "" "" "" "Fam6" "00164635" "" "" "" "1" "" "00006" "{PMID:Pescosolido 2014:25044251}" "2-generation family, 1 affected" "M" "no" "United States" "" "0" "" "" "" "Fam7" "00164636" "" "" "" "4" "" "00006" "{PMID:Pescosolido 2014:25044251}" "2-generation family, 2 affected males, 2 unaffected carrier females" "M" "no" "United States" "" "0" "" "" "" "Fam8" "00164637" "" "" "" "2" "" "00006" "{PMID:Pescosolido 2014:25044251}" "2-generation family, affected male, unaffected carrier mother" "M" "no" "United States" "" "0" "" "" "" "Fam9" "00164638" "" "" "" "3" "" "00006" "{PMID:Pescosolido 2014:25044251}" "2-generation family, affected male, unaffected carrier mother/sister" "M" "no" "United States" "" "0" "" "" "" "Fam10" "00164639" "" "" "" "3" "" "00006" "{PMID:Pescosolido 2014:25044251}" "2-generation family, affected male, unaffected carrier mother" "M" "no" "United States" "" "0" "" "" "" "Fam11" "00164640" "" "" "" "2" "" "00006" "{PMID:Pescosolido 2014:25044251}" "3-generation family, affected male, unaffected carrier mother" "M" "no" "United States" "" "0" "" "" "" "Fam12" "00164641" "" "" "" "3" "" "00006" "{PMID:Schuurs-Hoeijmakers 2013:24123876}" "2-generation family, 2 affected brothers, unaffected carrier mother" "M" "no" "Netherlands" "" "0" "" "" "" "24123876-FamW08-0135" "00183126" "" "" "" "5" "" "00006" "{PMID:Hu 2016:25644381}" "family, 5 affected, 10 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "25644381-FamM2" "00246684" "" "" "" "1" "" "03360" "" "" "M" "no" "China" "01y" "0" "" "" "" "00001" "00294942" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296784" "" "" "" "1" "" "00006" "{PMID:Redin 2014:25167861}" "analysis 106 patients" "M" "" "France" "" "0" "" "" "" "APN-43" "00307777" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411275" "00307778" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5410836" "00438720" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "" "" "HSJ0337" "00464433" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "322428" "00464448" "" "" "" "8" "" "00006" "{PMID:Garbern 2010:20395263}" "5-generation family, 8 affected (F, 7M)" "M" "yes" "United States" "" "0" "" "" "" "FamPatIII8" "00464449" "" "" "00464448" "1" "" "00006" "{PMID:Garbern 2010:20395263}" "brother" "M" "yes" "United States" "49y" "0" "" "" "" "FamPatIII9" "00464450" "" "" "00464448" "1" "" "00006" "{PMID:Garbern 2010:20395263}" "brother" "M" "yes" "United States" "47y" "0" "" "" "" "FamPatIII10" "00464451" "" "" "00464448" "1" "" "00006" "{PMID:Garbern 2010:20395263}" "brother" "M" "yes" "United States" "" "0" "" "" "" "FamPatIII11" "00464452" "" "" "00464448" "1" "" "00006" "{PMID:Garbern 2010:20395263}" "nephew" "M" "yes" "United States" "" "0" "" "" "" "FamPatIV4" "00464453" "" "" "00464448" "1" "" "00006" "{PMID:Garbern 2010:20395263}" "nephew" "M" "yes" "United States" "" "0" "" "" "" "FamPatIV5" "00464454" "" "" "" "2" "" "00006" "{PMID:Masurel-Paulet 2016:27256868}" "2-generation family, 2 affected (2M), 4 unaffected carrier females" "M" "no" "France" "" "0" "" "" "" "FamPatI4" "00464455" "" "" "00464454" "1" "" "00006" "{PMID:Masurel-Paulet 2016:27256868}" "nephew" "M" "no" "France" "" "0" "" "" "" "FamPatII4" "00464456" "" "" "" "3" "" "00006" "{PMID:Riess 2016:22931061}" "4-generation family, 3 affected (3M), unaffected carrier female" "M" "no" "Germany" "" "0" "" "" "" "Fam1" "00464457" "" "" "" "1" "" "00006" "{PMID:Riess 2016:22931061}" "" "M" "" "Germany" "" "0" "" "" "" "Fam2Pat" "00464458" "" "" "" "3" "" "00006" "{PMID:Nan 2022:35198730}" "3-generation family, 3 affected (3F)" "F" "no" "Japan" "" "0" "" "" "" "FamPatII3/II1/III3" "00464459" "" "" "" "1" "" "00006" "{PMID:Yamamoto 2025:39810750}" "patient" "F" "" "Japan" "" "0" "" "" "" "Pat1" "00464460" "" "" "" "1" "" "00006" "{PMID:Yamamoto 2025:39810750}" "patient" "F" "" "Japan" "" "0" "" "" "" "Pat2" "00464461" "" "" "" "1" "" "00006" "{PMID:Yamamoto 2025:39810750}" "patient" "F" "" "Japan" "" "0" "" "" "" "Pat3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 53 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00016987" "00187" "00016988" "00187" "00016989" "00187" "00016990" "00187" "00016991" "00187" "00016992" "00187" "00016995" "00000" "00016996" "00187" "00016997" "00187" "00016998" "00187" "00016999" "00187" "00017000" "00187" "00017001" "00187" "00017002" "00187" "00017022" "00187" "00050585" "00198" "00164629" "00187" "00164630" "00187" "00164631" "00187" "00164632" "00187" "00164633" "00187" "00164634" "00187" "00164635" "00187" "00164636" "00187" "00164637" "00187" "00164638" "00187" "00164639" "00187" "00164640" "00187" "00164641" "00187" "00183126" "00187" "00246684" "00839" "00294942" "00198" "00296784" "00139" "00307777" "00139" "00307778" "00139" "00438720" "06906" "00464433" "00839" "00464448" "00139" "00464449" "00139" "00464450" "00139" "00464451" "00139" "00464452" "00139" "00464453" "00139" "00464454" "00139" "00464455" "00139" "00464456" "00139" "00464457" "00139" "00464458" "00139" "00464459" "00414" "00464460" "00414" "00464461" "00414" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00187, 00198, 00414, 00839, 01157, 06906, 07159 ## Count = 50 "{{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/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000015346" "00187" "00016987" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015347" "00187" "00016988" "00124" "Familial" "" "see paper; ..., profound developmental delay; no speech, easily provoked laughter; sleep disturbance; epilepsy; ataxia; no hyperkinetic movements; squint; microcephaly (2.5th); open mouth, drooling; swallowing difficulty; ECG epileptiform activity, background frequency 1.5-3 Hz" "" "" "" "" "" "" "" "" "" "" "" "" "0000015348" "00187" "00016989" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015349" "00187" "00016990" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015350" "00187" "00016991" "00124" "Familial, X-linked" "" "see paper; ..., profound developmental delay; no speech, no easily provoked laughter; epilepsy; ataxia; no hyperkinetic movements; squint; microcephaly (3/4); swallowing difficulty (1/4); flexed arms; ECG epileptiform activity, background frequency 4-7 Hz; MRI brain cerebellar atrophy" "" "" "" "" "" "" "" "" "" "MRXSCH" "intellectual disability" "" "0000015351" "00187" "00016992" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015354" "00000" "00016995" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015355" "00187" "00016996" "00485" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015356" "00187" "00016997" "00485" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015357" "00187" "00016998" "00485" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015358" "00187" "00016999" "00485" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015359" "00187" "00017000" "00485" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015360" "00187" "00017001" "00006" "Familial, X-linked recessive" "" "see paper; ..., profound developmental delay; no speech, easily provoked laughter; sleep disturbance (1/3); epilepsy; ataxia; hyperkinetic movements (2/3); squint; microcephaly; open mouth (2/3), drooling (2/3); swallowing difficulty (2/3); flexed arms; ECG epileptiform activity, background frequency 10-11 Hz; MRI brain cerebellar atrophy (1/3)" "" "" "" "" "" "" "" "" "" "MRXSCH" "intellectual disability" "" "0000015361" "00187" "00017002" "00006" "Familial, X-linked recessive" "" "see paper; ..., profound developmental delay; no speech, easily provoked laughter; sleep disturbance (1/3); epilepsy; ataxia; hyperkinetic movements; squint; microcephaly; open mouth, drooling; swallowing difficulty (1/3); flexed arms (1/3); ECG epileptiform activity, background frequency 4-7 Hz" "" "" "" "" "" "" "" "" "" "MRXSCH" "intellectual disability" "" "0000015381" "00187" "00017022" "00714" "Unknown" "" "born 36w, low birth measurements, length 46 cm (<3rd centile), weight 2410 g (<3rd centile), OFC 32.5 cm (<3rd centile); psychomotor development severely retarded, 2y-seizures; 4y-not walk, no speech, strabismus, OFC 46 cm (3 cm below the 3rd centile)" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000037197" "00198" "00050585" "00006" "Isolated (sporadic)" "" "microcephaly, intellectual disability, athetosis, generalized dystonia, constipation, delayed cns myelination" "" "" "" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "" "" "0000129666" "00187" "00164629" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRXSCH" "Christianson syndrome" "" "0000129667" "00187" "00164630" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRXSCH" "Christianson syndrome" "" "0000129668" "00187" "00164631" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRXSCH" "Christianson syndrome" "" "0000129669" "00187" "00164632" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRXSCH" "Christianson syndrome" "" "0000129670" "00187" "00164633" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRXSCH" "Christianson syndrome" "" "0000129671" "00187" "00164634" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRXSCH" "Christianson syndrome" "" "0000129672" "00187" "00164635" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRXSCH" "Christianson syndrome" "" "0000129673" "00187" "00164636" "00006" "Familial, X-linked recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRXSCH" "Christianson syndrome" "" "0000129674" "00187" "00164637" "00006" "Familial, X-linked recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRXSCH" "Christianson syndrome" "" "0000129675" "00187" "00164638" "00006" "Familial, X-linked recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRXSCH" "Christianson syndrome" "" "0000129676" "00187" "00164639" "00006" "Familial, X-linked recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRXSCH" "Christianson syndrome" "" "0000129677" "00187" "00164640" "00006" "Familial, X-linked recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "MRXSCH" "Christianson syndrome" "" "0000129678" "00187" "00164641" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "MRXSCH" "mental retardation" "" "0000143880" "00187" "00183126" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000186530" "00839" "00246684" "03360" "Unknown" "01y" "microcephaly, hearing impairment, neither walk nor talk" "" "" "01y" "" "" "" "" "" "" "Christianson syndrome" "" "" "0000224183" "00139" "00296784" "00006" "Familial, X-linked" "" "mild intellectual disability" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000328623" "06906" "00438720" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000350458" "00839" "00464433" "01164" "Unknown" "01y" "Autistic behavior, Neurodevelopmental delay, Microcephaly, Absent speech, Dysphagia, Enlarged cisterna magna" "" "" "" "" "" "" "" "" "" "" "" "" "0000350477" "00139" "00464448" "00006" "Familial, X-linked recessive" "53y" "see paper; ...,mild intellectual disability, good language skills; autistic behaviour; no microcephaly (55.9cm); mutism; incontinence; epilepsy; ophthalmoplegia; truncal ataxia; no non-ambulatory; late ambulation; no adducted thumbs; dystonia; maladaptive behaviour; hand-wringing; no hemiparesis; no Angelman-like syndrome; no long, narrow face; no large ears; no square, prognathic jaw; no long, aquiline nose" "" "" "" "" "" "" "" "" "" "MRXSCH" "intellectual disability" "" "0000350478" "00139" "00464449" "00006" "Familial, X-linked recessive" "49y" "see paper; ..., 49y-deceased; profound intellectual disability; autistic behaviour; no microcephaly (54cm); no mutism; incontinence; no epilepsy; ophthalmoplegia; truncal ataxia; no non-ambulatory; no late ambulation; no adducted thumbs; dystonia; maladaptive behaviour; hand-wringing; hemiparesis; no Angelman-like syndrome; no long, narrow face; no large ears; no square, prognathic jaw; no long, aquiline nose" "" "" "" "" "" "" "" "" "" "MRXSCH" "intellectual disability" "" "0000350479" "00139" "00464450" "00006" "Familial, X-linked recessive" "47y" "see paper; ..., 47y-deceased; profound intellectual disability; autistic behaviour; microcephaly (53cm); mutism; incontinence; epilepsy; ophthalmoplegia; truncal ataxia; no non-ambulatory; late ambulation; no adducted thumbs; dystonia; maladaptive behaviour; hand-wringing; hemiparesis; no Angelman-like syndrome; no long, narrow face; no large ears; no square, prognathic jaw; no long, aquiline nose" "" "" "" "" "" "" "" "" "" "MRXSCH" "intellectual disability" "" "0000350480" "00139" "00464451" "00006" "Familial, X-linked recessive" "" "see paper; ..., deceased; profound intellectual disability; autistic behaviour; microcephaly (53.3cm); mutism; incontinence; epilepsy; ophthalmoplegia; truncal ataxia; no non-ambulatory; late ambulation; no adducted thumbs; maladaptive behaviour; hand-wringing; no hemiparesis; no Angelman-like syndrome; no long, narrow face; no large ears; no square, prognathic jaw; no long, aquiline nose" "" "" "" "" "" "" "" "" "" "MRXSCH" "intellectual disability" "" "0000350481" "00139" "00464452" "00006" "Familial, X-linked recessive" "23y" "see paper; ..., profound intellectual disability; autistic behaviour; no microcephaly (55.5cm); mutism; incontinence; epilepsy; no ophthalmoplegia; truncal ataxia; no non-ambulatory; no late ambulation; no adducted thumbs; dystonia; no maladaptive behaviour; no hand-wringing; no hemiparesis; no Angelman-like syndrome; no long, narrow face; no large ears; no square, prognathic jaw; no long, aquiline nose" "" "" "" "" "" "" "" "" "" "MRXSCH" "intellectual disability" "" "0000350482" "00139" "00464453" "00006" "Familial, X-linked recessive" "22y" "see paper; ..., profound intellectual disability; autistic behaviour; no microcephaly (54cm); no mutism; incontinence; epilepsy; ophthalmoplegia; truncal ataxia; no non-ambulatory; late ambulation; no adducted thumbs; dystonia; no maladaptive behaviour; no hand-wringing; no hemiparesis; no Angelman-like syndrome; long, narrow face; no large ears; square, prognathic jaw; long, aquiline nose" "" "" "" "" "" "" "" "" "" "MRXSCH" "intellectual disability" "" "0000350483" "00139" "00464454" "00006" "Familial, X-linked recessive" "40y" "see paper; ..., mild intellectual disability (FSIQ=60); speech normal sentences, childhood severe speech delay; OFC 55 cm (10th); no ataxia, no motor regression; no seizures" "" "" "" "" "" "" "" "" "" "MRXSCH" "intellectual disability" "" "0000350484" "00139" "00464455" "00006" "Familial, X-linked recessive" "09y" "see paper; ..., mild intellectual disability ; speech delay (lage equivalent 3y4m), short sentences, impaired articulation; no stereotypical behavior, restricted communication/creativity, good quality reciprocal social interactions, hindered by impaired oral communication, no autism spectrum disorders, no anxiety" "" "" "" "" "" "" "" "" "" "MRXSCH" "intellectual disability" "" "0000350485" "00139" "00464456" "00006" "Familial, X-linked recessive" "" "see paper; ..., feeding difficulties, seizures, severe intellectual disability, secondary microcephaly, epilepsy, scoliosis" "" "" "" "" "" "" "" "" "" "MRXSCH" "intellectual disability" "" "0000350486" "00139" "00464457" "00006" "Familial, X-linked recessive" "07y" "see paper; ..., 16m-seizures, strabismus; severely retarded psychomotor development; 7y-microcephaly (OFC 46 cm (<3rd))" "" "" "" "" "" "" "" "" "" "MRXSCH" "intellectual disability" "" "0000350487" "00139" "00464458" "00006" "Familial, X-linked" "" "see paper; ..., learning problems; 48y-difficulty fine motor skills right hand, gait became slower; bradykinesia, rigidity, exaggerated deep tendon reflexes limbs, predominately right side; conjugate, bilateral limitation upgaze,downgaze eye movements" "" "" "" "" "" "" "" "" "" "NDPACX" "intellectual disability" "" "0000350488" "00414" "00464459" "00006" "Familial, X-linked" "" "see paper; ..., mid 50\'s Parkinson" "" "" "" "" "" "" "" "" "" "NDPACX" "Parkinson disease" "" "0000350489" "00414" "00464460" "00006" "Familial, X-linked" "" "see paper; ..., early 50\'s Parkinson" "" "" "" "" "" "" "" "" "" "NDPACX" "atypical parkinsonism" "" "0000350490" "00414" "00464461" "00006" "Familial, X-linked" "" "see paper; ..., mid 40\'s Parkinson" "" "" "" "" "" "" "" "" "" "NDPACX" "atypical parkinsonism" "" ## Screenings ## Do not remove or alter this header ## ## Count = 54 "{{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" "" "" "0000016964" "00016987" "1" "00124" "00006" "2009-10-28 15:09:48" "" "" "SEQ" "DNA" "" "" "0000016965" "00016988" "1" "00124" "00006" "2009-10-28 15:09:48" "" "" "SEQ" "DNA" "" "" "0000016966" "00016989" "1" "00124" "00006" "2009-10-28 15:09:48" "" "" "SEQ" "DNA" "" "" "0000016967" "00016990" "1" "00124" "00006" "2009-10-28 15:09:48" "" "" "SEQ" "DNA" "" "" "0000016968" "00016991" "1" "00124" "00006" "2009-10-28 15:09:48" "" "" "SEQ" "DNA" "" "" "0000016969" "00016992" "1" "00124" "00006" "2009-10-28 15:09:48" "" "" "SEQ" "DNA" "" "" "0000016972" "00016995" "1" "00006" "00006" "2010-10-23 11:09:59" "" "" "SEQ" "DNA" "" "" "0000016973" "00016996" "1" "00485" "00006" "2010-10-23 11:09:59" "" "" "SEQ" "DNA" "" "" "0000016974" "00016997" "1" "00485" "00006" "2010-10-23 11:09:59" "" "" "SEQ" "DNA" "" "" "0000016975" "00016998" "1" "00485" "00006" "2010-10-23 11:09:59" "" "" "SEQ" "DNA" "" "" "0000016976" "00016999" "1" "00485" "00006" "2010-10-23 11:09:59" "" "" "SEQ" "DNA" "" "" "0000016977" "00017000" "1" "00485" "00006" "2010-10-23 11:09:59" "" "" "SEQ" "DNA" "" "" "0000016978" "00017001" "1" "00006" "00006" "2010-10-23 11:14:01" "" "" "SEQ" "DNA" "" "" "0000016979" "00017002" "1" "00006" "00006" "2010-10-23 11:14:01" "" "" "SEQ" "DNA" "" "" "0000016999" "00017022" "1" "00714" "00001" "2014-06-04 13:44:34" "" "" "SEQ-NG-I" "DNA" "" "" "0000037219" "00037149" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000050530" "00050585" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000165493" "00164629" "1" "00006" "00006" "2018-06-02 18:17:34" "" "" "SEQ" "DNA" "" "" "0000165494" "00164630" "1" "00006" "00006" "2018-06-02 18:17:34" "" "" "SEQ" "DNA" "" "" "0000165495" "00164631" "1" "00006" "00006" "2018-06-02 18:17:34" "" "" "SEQ" "DNA" "" "" "0000165496" "00164632" "1" "00006" "00006" "2018-06-02 18:17:34" "" "" "SEQ" "DNA" "" "" "0000165497" "00164633" "1" "00006" "00006" "2018-06-02 18:17:34" "" "" "SEQ" "DNA" "" "" "0000165498" "00164634" "1" "00006" "00006" "2018-06-02 18:17:34" "" "" "SEQ" "DNA" "" "" "0000165499" "00164635" "1" "00006" "00006" "2018-06-02 18:17:34" "" "" "SEQ" "DNA" "" "" "0000165500" "00164636" "1" "00006" "00006" "2018-06-02 18:17:34" "" "" "SEQ" "DNA" "" "" "0000165501" "00164637" "1" "00006" "00006" "2018-06-02 18:17:34" "" "" "SEQ" "DNA" "" "" "0000165502" "00164638" "1" "00006" "00006" "2018-06-02 18:17:34" "" "" "SEQ" "DNA" "" "" "0000165503" "00164639" "1" "00006" "00006" "2018-06-02 18:17:34" "" "" "SEQ" "DNA" "" "" "0000165504" "00164640" "1" "00006" "00006" "2018-06-02 18:17:34" "" "" "SEQ" "DNA" "" "" "0000165505" "00164641" "1" "00006" "00006" "2018-06-02 18:34:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000184084" "00183126" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000247795" "00246684" "1" "03360" "03360" "2019-07-16 11:06:02" "" "" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000296110" "00294942" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297894" "00296784" "1" "00006" "00006" "2020-04-13 12:27:32" "" "" "SEQ;SEQ-NG" "DNA" "" "239-gene ID panel" "0000308917" "00307777" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000308918" "00307778" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000440202" "00438720" "1" "00006" "00006" "2023-10-21 20:34:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000466071" "00464433" "1" "01164" "01164" "2025-03-14 14:18:41" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000466087" "00464448" "1" "00006" "00006" "2025-03-17 10:15:27" "" "" "SEQ" "DNA" "" "" "0000466088" "00464449" "1" "00006" "00006" "2025-03-17 10:15:27" "" "" "SEQ" "DNA" "" "" "0000466089" "00464450" "1" "00006" "00006" "2025-03-17 10:15:27" "" "" "SEQ" "DNA" "" "" "0000466090" "00464451" "1" "00006" "00006" "2025-03-17 10:15:27" "" "" "SEQ" "DNA" "" "" "0000466091" "00464452" "1" "00006" "00006" "2025-03-17 10:15:27" "" "" "SEQ" "DNA" "" "" "0000466092" "00464453" "1" "00006" "00006" "2025-03-17 10:15:27" "" "" "SEQ" "DNA" "" "" "0000466093" "00464454" "1" "00006" "00006" "2025-03-17 10:25:20" "" "" "SEQ" "DNA" "" "" "0000466094" "00464455" "1" "00006" "00006" "2025-03-17 11:12:26" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000466095" "00464456" "1" "00006" "00006" "2025-03-17 11:27:12" "" "" "SEQ" "DNA" "" "" "0000466096" "00464457" "1" "00006" "00006" "2025-03-17 11:32:10" "" "" "SEQ" "DNA" "" "" "0000466097" "00464458" "1" "00006" "00006" "2025-03-17 11:45:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES quad" "0000466098" "00464459" "1" "00006" "00006" "2025-03-17 12:09:59" "" "" "SEQ" "DNA" "" "" "0000466099" "00464460" "1" "00006" "00006" "2025-03-17 12:09:59" "" "" "SEQ" "DNA" "" "" "0000466100" "00464461" "1" "00006" "00006" "2025-03-17 12:09:59" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 49 "{{screeningid}}" "{{geneid}}" "0000016964" "SLC9A6" "0000016965" "SLC9A6" "0000016966" "SLC9A6" "0000016967" "SLC9A6" "0000016968" "SLC9A6" "0000016969" "SLC9A6" "0000016972" "SLC9A6" "0000016973" "SLC9A6" "0000016974" "SLC9A6" "0000016975" "SLC9A6" "0000016976" "SLC9A6" "0000016977" "SLC9A6" "0000016978" "SLC9A6" "0000016979" "SLC9A6" "0000016999" "SLC9A6" "0000037219" "SLC9A6" "0000050530" "SLC9A6" "0000165493" "SLC9A6" "0000165494" "SLC9A6" "0000165495" "SLC9A6" "0000165496" "SLC9A6" "0000165497" "SLC9A6" "0000165498" "SLC9A6" "0000165499" "SLC9A6" "0000165500" "SLC9A6" "0000165501" "SLC9A6" "0000165502" "SLC9A6" "0000165503" "SLC9A6" "0000165504" "SLC9A6" "0000165505" "SLC9A6" "0000184084" "SLC9A6" "0000247795" "SLC9A6" "0000297894" "SLC9A6" "0000308917" "SLC9A6" "0000308918" "SLC9A6" "0000466071" "SLC9A6" "0000466087" "SLC9A6" "0000466088" "SLC9A6" "0000466089" "SLC9A6" "0000466090" "SLC9A6" "0000466091" "SLC9A6" "0000466092" "SLC9A6" "0000466093" "SLC9A6" "0000466094" "SLC9A6" "0000466095" "SLC9A6" "0000466096" "SLC9A6" "0000466098" "SLC9A6" "0000466099" "SLC9A6" "0000466100" "SLC9A6" ## 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 = 70 "{{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}}" "0000002168" "0" "50" "X" "135080635" "135080635" "dup" "0" "00037" "SLC9A6_000014" "g.135080635dup" "" "" "" "NM_006359.2:c.508-6dup" "" "Germline" "" "" "0" "" "" "g.135998476dup" "" "VUS" "" "0000002169" "0" "50" "X" "135080634" "135080635" "dup" "0" "00037" "SLC9A6_000015" "g.135080634_135080635dup" "" "" "" "NM_006359.2:c.508-6_508-5insTT" "" "Germline" "" "" "0" "" "" "g.135998475_135998476dup" "" "VUS" "" "0000003255" "20" "50" "X" "135080635" "135080635" "dup" "0" "00037" "SLC9A6_000014" "g.135080635dup" "" "" "" "NM_006359.2:c.508-18_508-17insT" "" "Germline" "" "" "0" "" "" "g.135998476dup" "" "VUS" "" "0000003256" "20" "50" "X" "135115765" "135115766" "ins" "0" "00037" "SLC9A6_000017" "g.135115765_135115766insC" "" "" "" "NM_006359.2:c.1631+113_1631+114insC" "" "Germline" "" "" "0" "" "" "g.136033606_136033607insC" "" "VUS" "" "0000009865" "0" "50" "X" "135080635" "135080635" "dup" "0" "00037" "SLC9A6_000014" "g.135080635dup" "" "" "" "NM_006359.2:c.508-6dup" "" "Germline" "" "" "0" "" "" "g.135998476dup" "" "VUS" "" "0000009866" "0" "50" "X" "135080634" "135080635" "dup" "0" "00037" "SLC9A6_000015" "g.135080634_135080635dup" "" "" "" "NM_006359.2:c.508-6_508-5insTT" "" "Germline" "" "" "0" "" "" "g.135998475_135998476dup" "" "VUS" "" "0000011232" "0" "50" "X" "135080635" "135080635" "dup" "0" "00037" "SLC9A6_000014" "g.135080635dup" "" "" "" "NM_006359.2:c.508-18_508-17insT" "" "Germline" "" "" "0" "" "" "g.135998476dup" "" "VUS" "" "0000011233" "0" "50" "X" "135080634" "135080635" "dup" "0" "00037" "SLC9A6_000015" "g.135080634_135080635dup" "" "" "" "NM_006359.2:c.508-18_508-17insTT" "" "Germline" "" "" "0" "" "" "g.135998475_135998476dup" "" "VUS" "" "0000011234" "0" "50" "X" "135095664" "135095664" "del" "0" "00037" "SLC9A6_000016" "g.135095664del" "" "" "" "NM_006359.2:c.1140+68del" "" "Germline" "" "" "0" "" "" "g.136013505del" "" "VUS" "" "0000036937" "1" "55" "X" "135095545" "135095545" "subst" "0.00470579" "00124" "SLC9A6_000001" "g.135095545A>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "NM_006359.2:c.1089A>C (A363A)" "found once, non-recurrent change\r\nVariant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "?" "" "0" "" "" "g.136013386A>C" "" "VUS" "" "0000036938" "1" "95" "X" "135106524" "135106524" "subst" "0" "00124" "SLC9A6_000002" "g.135106524C>T" "" "{PMID:Gilfillan 2008:18342287}, {PMID:Tarpey 2009:19377476}, {OMIM300243:0002}" "" "NM_006359.2:c.1402C>T (R468*)" "found once, not in 282 controls" "Germline" "yes" "" "0" "" "" "g.136024365C>T" "" "pathogenic" "" "0000036939" "1" "75" "X" "135115628" "135115628" "subst" "0.00167708" "00124" "SLC9A6_000003" "g.135115628G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "NM_006359.2:c.1607G>A (R536Q)" "found once, non-recurrent change\r\nVariant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "?" "" "0" "" "" "g.136033469G>A" "" "likely pathogenic" "" "0000036940" "1" "55" "X" "135122262" "135122262" "subst" "0.0361175" "00124" "SLC9A6_000004" "g.135122262C>T" "9/208 cases" "{PMID:Tarpey 2009:19377476}" "" "NM_006359.2:c.1659C>T (S553S)" "recurrent, found 9 times\r\nVariant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "?" "" "0" "" "" "g.136040103C>T" "" "VUS" "" "0000036941" "1" "95" "X" "135080645" "135080646" "del" "0" "00124" "SLC9A6_000005" "g.135080645_135080646del" "" "{PMID:Gilfillan 2008:18342287}, {PMID:Tarpey 2009:19377476}, {OMIM300243:0004}" "" "NM_006359.2:c.512_513delAT (H171fs*59)" "found once, not in 282 controls; linkage analysis" "Germline" "yes" "" "0" "" "" "g.135998486_135998487del" "" "pathogenic" "" "0000036942" "1" "95" "X" "135080347" "135080350" "del" "0" "00124" "SLC9A6_000006" "g.135080347_135080350del" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "NM_006359.2 IVS3+1del4" "found once, non-recurrent change\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "?" "" "0" "" "" "g.135998188_135998191del" "" "pathogenic" "" "0000036943" "21" "90" "X" "135080347" "135080350" "del" "0" "00006" "SLC9A6_000006" "g.135080347_135080350del" "" "{PMID:Gilfillan 2008:18342287}, {OMIM300243:0003}" "" "NM_006359.2:c.507+1delGTAA" "" "Germline" "yes" "" "0" "" "" "g.135998188_135998191del" "" "pathogenic (recessive)" "" "0000036944" "1" "15" "X" "135095627" "135095627" "subst" "0.0355687" "00006" "SLC9A6_000007" "g.135095627C>A" "" "" "" "NM_006359.2:c.1236+31C>A" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Not applicable" "-" "rs2291639" "0" "" "" "g.136013468C>A" "" "benign" "" "0000036945" "1" "15" "X" "135095627" "135095627" "subst" "0.0355687" "00485" "SLC9A6_000007" "g.135095627C>A" "" "" "" "NM_006359.2:c.1236+31C>A" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "?" "" "0" "" "" "g.136013468C>A" "" "benign" "" "0000036946" "1" "15" "X" "135104682" "135104682" "subst" "0" "00485" "SLC9A6_000008" "g.135104682G>A" "" "" "" "NM_006359.2:c.1351-63G>A" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "?" "" "0" "" "" "g.136022523G>A" "" "benign" "" "0000036947" "1" "15" "X" "135104682" "135104682" "subst" "0" "00006" "SLC9A6_000008" "g.135104682G>A" "" "" "" "NM_006359.2:c.1351-63G>A" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Not applicable" "-" "rs6654309" "0" "" "" "g.136022523G>A" "" "benign" "" "0000036948" "1" "15" "X" "135104864" "135104864" "subst" "0.0548552" "00485" "SLC9A6_000009" "g.135104864G>A" "" "" "" "NM_006359.2:c.1462+8G>A" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "?" "" "0" "" "" "g.136022705G>A" "" "benign" "" "0000036949" "1" "15" "X" "135104864" "135104864" "subst" "0.0548552" "00006" "SLC9A6_000009" "g.135104864G>A" "" "" "" "NM_006359.2:c.1462+8G>A" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Not applicable" "-" "rs6654310" "0" "" "" "g.136022705G>A" "" "benign" "" "0000036950" "1" "15" "X" "135112228" "135112228" "subst" "0" "00485" "SLC9A6_000010" "g.135112228T>C" "" "" "" "NM_006359.2:c.1617-63T>C" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "?" "" "0" "" "" "g.136030069T>C" "" "benign" "" "0000036951" "1" "15" "X" "135112228" "135112228" "subst" "0" "00006" "SLC9A6_000010" "g.135112228T>C" "" "" "" "NM_006359.2:c.1617-63T>C" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Not applicable" "-" "rs10521848" "0" "" "" "g.136030069T>C" "" "benign" "" "0000036952" "1" "15" "X" "135122262" "135122262" "subst" "0.0361175" "00485" "SLC9A6_000004" "g.135122262C>T" "" "" "" "NM_006359.2:c.1755C>T" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Unknown" "?" "" "0" "" "" "g.136040103C>T" "" "benign" "" "0000036953" "1" "15" "X" "135122262" "135122262" "subst" "0.0361175" "00006" "SLC9A6_000004" "g.135122262C>T" "" "" "" "NM_006359.2:c.1755C>T" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Not applicable" "-" "rs2307131" "0" "" "" "g.136040103C>T" "" "benign" "" "0000036954" "21" "95" "X" "135084333" "135084338" "del" "0" "00006" "SLC9A6_000012" "g.135084333_135084338del" "" "{PMID:Gilfillan 2008:18342287}, {OMIM300243:0001}" "" "NM_006359.2:c.764_769delAAAGTG" "linkage analysis" "Germline" "yes" "" "0" "" "" "g.136002174_136002179del" "" "pathogenic (recessive)" "" "0000036955" "0" "95" "X" "135067656" "135067991" "del" "0" "00714" "SLC9A6_000013" "g.135067656_135067991del" "" "{PMID:Tzschach 2015:25649377}" "" "NM_006359.2:c.-6_325+5del" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.135985497_135985832del" "" "pathogenic" "" "0000064344" "1" "10" "X" "135122231" "135122231" "subst" "0.00627057" "01164" "SLC9A6_000018" "g.135122231G>A" "" "" "" "NM_001042537.1:c.1728-4G>A" "" "Germline" "" "rs188672063" "0" "" "" "g.136040072G>A" "" "benign" "" "0000079510" "21" "90" "X" "135095506" "135095506" "subst" "0" "00006" "SLC9A6_000019" "g.135095506A>G" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "NM_006359.2:c.1052-2A>G" "splice variant" "Germline" "" "" "0" "" "" "g.136013347A>G" "" "pathogenic" "" "0000369158" "0" "70" "X" "135095508" "135095508" "subst" "0" "00006" "SLC9A6_000043" "g.135095508G>A" "" "{PMID:Pescosolido 2014:25044251}" "" "NM_006359.2:c.1052G>A" "" "Germline" "" "" "0" "" "" "g.136013349G>A" "" "likely pathogenic" "" "0000369159" "0" "90" "X" "135104809" "135104809" "dup" "0" "00006" "SLC9A6_000044" "g.135104809dup" "" "{PMID:Pescosolido 2014:25044251}" "" "NM_001042537 1414dupA" "" "Germline" "" "" "0" "" "" "g.136022650dup" "" "pathogenic" "" "0000369160" "0" "90" "X" "135115635" "135115635" "subst" "0" "00006" "SLC9A6_000046" "g.135115635G>A" "" "{PMID:Pescosolido 2014:25044251}" "" "NM_006359.2:c.1614G>A" "" "Germline" "" "" "0" "" "" "g.136033476G>A" "" "pathogenic" "" "0000369161" "0" "90" "X" "135106594" "135106594" "subst" "0" "00006" "SLC9A6_000045" "g.135106594G>A" "" "{PMID:Pescosolido 2014:25044251}" "" "NM_006359.2:c.1472G>A" "" "Germline" "" "" "0" "" "" "g.136024435G>A" "" "pathogenic" "" "0000369162" "0" "90" "X" "135080281" "135080288" "dup" "0" "00006" "SLC9A6_000042" "g.135080281_135080288dup" "" "{PMID:Pescosolido 2014:25044251}" "" "NM_001042537:540_547dupAGAAGTAT" "" "Germline" "" "" "0" "" "" "g.135998122_135998129dup" "" "pathogenic" "" "0000369163" "0" "90" "X" "135080266" "135080266" "subst" "0" "00006" "SLC9A6_000041" "g.135080266G>A" "" "{PMID:Pescosolido 2014:25044251}" "" "NM_006359.2:c.430-1G>A" "" "Germline" "" "" "0" "" "" "g.135998107G>A" "" "pathogenic" "" "0000369164" "0" "90" "X" "135115635" "135115635" "subst" "0" "00006" "SLC9A6_000046" "g.135115635G>A" "" "{PMID:Pescosolido 2014:25044251}" "" "NM_006359.2:c.1614G>A" "" "Germline" "" "" "0" "" "" "g.136033476G>A" "" "pathogenic" "" "0000369165" "21" "90" "X" "135067851" "135067851" "subst" "0" "00006" "SLC9A6_000040" "g.135067851G>T" "" "{PMID:Pescosolido 2014:25044251}" "" "NM_006359.2:c.190G>T" "" "Germline" "" "" "0" "" "" "g.135985692G>T" "" "pathogenic" "" "0000369166" "21" "90" "X" "135106524" "135106524" "subst" "0" "00006" "SLC9A6_000002" "g.135106524C>T" "" "{PMID:Pescosolido 2014:25044251}" "" "NM_006359.2:c.1402C>T" "" "Germline" "yes" "" "0" "" "" "g.136024365C>T" "" "pathogenic" "" "0000369167" "21" "90" "X" "135098247" "135218928" "del" "0" "00006" "SLC9A6_000039" "g.(135095597_135098247)_(135218928_135220000)del" "" "{PMID:Pescosolido 2014:25044251}" "" "chrX:135098247–135218928del(hg19) (c.1237-557_UTRdel)" "120.7 kb deletion" "Germline" "yes" "" "0" "" "" "g.(136013438_136016088)_(136136769_136137841)del" "" "pathogenic" "" "0000369168" "21" "90" "X" "135112313" "135112313" "subst" "0" "00006" "SLC9A6_000038" "g.135112313G>T" "" "{PMID:Pescosolido 2014:25044251}" "" "NM_006359.2:c.1543G>T" "" "Germline" "yes" "" "0" "" "" "g.136030154G>T" "" "pathogenic" "" "0000369169" "21" "90" "X" "135106524" "135106524" "subst" "0" "00006" "SLC9A6_000002" "g.135106524C>T" "" "{PMID:Pescosolido 2014:25044251}" "" "NM_006359.2:c.1402C>T" "" "Germline" "yes" "" "0" "" "" "g.136024365C>T" "" "pathogenic" "" "0000369170" "21" "90" "X" "135112313" "135112313" "subst" "0" "00006" "SLC9A6_000038" "g.135112313G>T" "" "{PMID:Schuurs-Hoeijmakers 2013:24123876}" "" "NM_006359.2:c.1543G>T" "" "Germline" "yes" "" "0" "" "" "g.136030154G>T" "" "pathogenic" "" "0000408053" "21" "90" "X" "135106603" "135106603" "del" "0" "00006" "SLC9A6_000047" "g.135106603del" "" "{PMID:Hu 2016:25644381}" "" "SLC9A6 G494Vfs*53" "" "Germline" "yes" "" "0" "" "" "g.136024444del" "" "pathogenic" "" "0000500681" "0" "90" "X" "135084375" "135084378" "del" "0" "03360" "SLC9A6_000048" "g.135084375_135084378del" "" "" "" "NM_001042537.1:c.899+3_899+6del" "" "De novo" "no" "" "0" "" "" "g.136002216_136002219del" "" "VUS" "" "0000652799" "1" "70" "X" "135080722" "135080722" "subst" "0" "03575" "SLC9A6_000057" "g.135080722G>A" "1/2788 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "NM_006359.2:c.584+5G>A" "1 heterozygous, no homozygous; {DB:CLININrs796053284}" "Germline" "" "rs796053284" "0" "" "" "g.135998563G>A" "" "likely pathogenic" "" "0000660594" "21" "90" "X" "135080258" "135080262" "del" "0" "00006" "SLC9A6_000058" "g.135080258_135080262del" "" "{PMID:Redin 2014:25167861}" "" "NM_006359.2:c.430-9_430-5del" "" "Germline" "" "" "0" "" "" "g.135998099_135998103del" "" "pathogenic (recessive)" "" "0000683351" "0" "70" "X" "135106580" "135106581" "del" "0" "00006" "SLC9A6_000063" "g.135106580_135106581del" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "NM_006359.2:c.1458_1459del" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.136024421_136024422del" "" "likely pathogenic" "" "0000683352" "0" "70" "X" "135081128" "135081128" "subst" "0" "00006" "SLC9A6_000062" "g.135081128G>A" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "NM_006359.2:c.697+1G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.135998969G>A" "" "likely pathogenic" "" "0000867061" "0" "30" "X" "135077031" "135077031" "subst" "5.59381E-6" "01943" "SLC9A6_000072" "g.135077031A>G" "" "" "" "SLC9A6(NM_001042537.1):c.412A>G (p.S138G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135994872A>G" "" "likely benign" "" "0000895940" "0" "50" "X" "135077050" "135077050" "subst" "0" "02329" "SLC9A6_000073" "g.135077050T>C" "" "" "" "SLC9A6(NM_001042537.1):c.431T>C (p.V144A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135994891T>C" "" "VUS" "" "0000936496" "21" "90" "X" "135106524" "135106524" "subst" "0" "00006" "SLC9A6_000002" "g.135106524C>T" "" "{PMID:Hamdan 2017:29100083}" "" "NM_006359.2:c.1402C>T" "" "Germline" "" "" "0" "" "" "g.136024365C>T" "" "pathogenic" "" "0000984470" "0" "30" "X" "135106541" "135106541" "subst" "5.59675E-6" "02326" "SLC9A6_000075" "g.135106541T>C" "" "" "" "SLC9A6(NM_001042537.1):c.1515T>C (p.Y505=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136024382T>C" "" "likely benign" "" "0000984471" "0" "30" "X" "135122307" "135122307" "subst" "1.13634E-5" "01804" "SLC9A6_000076" "g.135122307C>T" "" "" "" "SLC9A6(NM_001379110.1):c.1734C>T (p.(Ile578=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136040148C>T" "" "likely benign" "" "0001006451" "0" "50" "X" "135067783" "135067783" "subst" "5.61807E-6" "01804" "SLC9A6_000077" "g.135067783G>A" "" "" "" "SLC9A6(NM_001042537.1):c.122G>A (p.(Gly41Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135985624G>A" "" "VUS" "" "0001029893" "0" "70" "X" "135081028" "135126867" "del" "0" "01164" "SLC9A6_000078" "g.135081028_135126867del" "" "" "" "NM_001042537.1:c.694_2090del" "ACMG: PVS1, PS2_SUP. PM2_SUP; confirmed de novo" "De novo" "-" "" "0" "" "" "g.135998869_136044708del" "" "pathogenic (!)" "ACMG" "0001029918" "21" "90" "4" "135095175" "135095183" "del" "0" "00006" "SLC9A6_000001" "g.135095175_135095183del" "" "{PMID:Garbern 2010:20395263}" "" "NM_006359.2:c.1012_1020del" "" "Germline" "" "rs398122849" "0" "" "" "g.136013016_136013024del" "" "pathogenic (recessive)" "" "0001029919" "21" "90" "4" "135095175" "135095183" "del" "0" "00006" "SLC9A6_000001" "g.135095175_135095183del" "" "{PMID:Garbern 2010:20395263}" "" "NM_006359.2:c.1012_1020del" "" "Germline" "" "rs398122849" "0" "" "" "g.136013016_136013024del" "" "pathogenic (recessive)" "" "0001029920" "21" "90" "4" "135095175" "135095183" "del" "0" "00006" "SLC9A6_000001" "g.135095175_135095183del" "" "{PMID:Garbern 2010:20395263}" "" "NM_006359.2:c.1012_1020del" "" "Germline" "" "rs398122849" "0" "" "" "g.136013016_136013024del" "" "pathogenic (recessive)" "" "0001029921" "21" "90" "4" "135095175" "135095183" "del" "0" "00006" "SLC9A6_000001" "g.135095175_135095183del" "" "{PMID:Garbern 2010:20395263}" "" "NM_006359.2:c.1012_1020del" "" "Germline" "" "rs398122849" "0" "" "" "g.136013016_136013024del" "" "pathogenic (recessive)" "" "0001029922" "21" "90" "4" "135095175" "135095183" "del" "0" "00006" "SLC9A6_000001" "g.135095175_135095183del" "" "{PMID:Garbern 2010:20395263}" "" "NM_006359.2:c.1012_1020del" "" "Germline" "" "rs398122849" "0" "" "" "g.136013016_136013024del" "" "pathogenic (recessive)" "" "0001029923" "21" "90" "4" "135095175" "135095183" "del" "0" "00006" "SLC9A6_000001" "g.135095175_135095183del" "" "{PMID:Garbern 2010:20395263}" "" "NM_006359.2:c.1012_1020del" "carries also de novo 46,XY, t(14;18)(q13;q23)" "Germline" "" "rs398122849" "0" "" "" "g.136013016_136013024del" "" "pathogenic (recessive)" "" "0001029924" "21" "90" "X" "135080258" "135080262" "del" "0" "00006" "SLC9A6_000058" "g.135080258_135080262del" "" "{PMID:Masurel-Paulet 2016:27256868}" "" "NM_001042537.1:c.526-9_526-5del" "" "Germline" "yes" "" "0" "" "" "g.135998099_135998103del" "" "pathogenic (recessive)" "" "0001029925" "21" "90" "X" "135080258" "135080262" "del" "0" "00006" "SLC9A6_000058" "g.135080258_135080262del" "" "{PMID:Masurel-Paulet 2016:27256868}" "" "NM_001042537.1:c.526-9_526-5del" "" "Germline" "yes" "" "0" "" "" "g.135998099_135998103del" "" "pathogenic (recessive)" "" "0001029926" "21" "90" "X" "135106586" "135106586" "dup" "0" "00006" "SLC9A6_000079" "g.135106586dup" "" "{PMID:Riess 2016:22931061}" "" "NM_006359.2:c.1464_1465insT" "" "Germline" "yes" "" "0" "" "" "g.136024427dup" "" "pathogenic (recessive)" "" "0001029927" "21" "90" "X" "135080718" "135080718" "subst" "0" "00006" "SLC9A6_000080" "g.135080718G>T" "" "{PMID:Riess 2016:22931061}" "" "NM_006359.2:c.584+1G>T" "" "Germline" "" "" "0" "" "" "g.135998559G>T" "" "pathogenic (recessive)" "" "0001029928" "21" "90" "X" "135067926" "135067926" "subst" "0" "00006" "SLC9A6_000081" "g.135067926T>C" "" "{PMID:Nan 2022:35198730}" "" "NM_001042537.1:c.265T>C" "no carrier males in family reported" "Germline" "yes" "" "0" "" "" "g.135985767T>C" "" "likely pathogenic" "ACMG" "0001029929" "0" "70" "X" "135104847" "135104849" "del" "0" "00006" "SLC9A6_000083" "g.135104847_135104849del" "" "{PMID:Yamamoto 2025:39810750}" "" "NM_006359.3:c.1357_1359del" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.136022688_136022690del" "" "likely pathogenic" "" "0001029930" "0" "70" "X" "135067926" "135067926" "subst" "0" "00006" "SLC9A6_000082" "g.135067926T>M" "" "{PMID:Yamamoto 2025:39810750}" "" "NM_006359.3 Trp89Arg" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.135985767T>M" "" "likely pathogenic" "" "0001029931" "0" "70" "X" "135067926" "135067926" "subst" "0" "00006" "SLC9A6_000082" "g.135067926T>M" "" "{PMID:Yamamoto 2025:39810750}" "" "NM_006359.3 Trp89Arg" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.135985767T>M" "" "likely pathogenic" "" ## 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 SLC9A6 ## Count = 70 "{{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}}" "0000002168" "00025986" "50" "448" "-6" "448" "-6" "c.448-6dup" "r.(?)" "p.?" "3i" "0000002169" "00025986" "50" "448" "-7" "448" "-6" "c.448-7_448-6dup" "r.(?)" "p.?" "3i" "0000003255" "00025986" "50" "448" "-6" "448" "-6" "c.448-6dup" "r.(?)" "p.?" "3i" "0000003256" "00025986" "50" "1661" "113" "1661" "114" "c.1661+113_1661+114insC" "r.(?)" "p.?" "14i" "0000009865" "00025986" "50" "448" "-6" "448" "-6" "c.448-6dup" "r.(?)" "p.?" "3i" "0000009866" "00025986" "50" "448" "-7" "448" "-6" "c.448-7_448-6dup" "r.(?)" "p.?" "3i" "0000011232" "00025986" "50" "448" "-6" "448" "-6" "c.448-6dup" "r.(?)" "p.?" "3i" "0000011233" "00025986" "50" "448" "-7" "448" "-6" "c.448-7_448-6dup" "r.(?)" "p.?" "3i" "0000011234" "00025986" "50" "1080" "68" "1080" "68" "c.1080+68del" "r.(?)" "p.?" "9i" "0000036937" "00025986" "50" "1029" "0" "1029" "0" "c.1029A>C" "r.(?)" "p.(Ala343=)" "9" "0000036938" "00025986" "90" "1342" "0" "1342" "0" "c.1342C>T" "r.(?)" "p.(Arg448Ter)" "12" "0000036939" "00025986" "70" "1637" "0" "1637" "0" "c.1637G>A" "r.(?)" "p.(Arg546Gln)" "14" "0000036940" "00025986" "50" "1689" "0" "1689" "0" "c.1689C>T" "r.(?)" "p.(Ser563=)" "15" "0000036941" "00025986" "90" "452" "0" "453" "0" "c.452_453del" "r.(?)" "p.(His151LeufsTer60)" "4" "0000036942" "00025986" "90" "447" "3" "447" "6" "c.447+3_447+6del" "r.(?)" "p.?" "3i" "0000036943" "00025986" "90" "447" "3" "447" "6" "c.447+3_447+6del" "r.370_447del" "p.?" "3i" "0000036944" "00025986" "10" "1080" "31" "1080" "31" "c.1080+31C>A" "r.(=)" "p.?" "9i" "0000036945" "00025986" "10" "1080" "31" "1080" "31" "c.1080+31C>A" "r.(=)" "p.?" "9i" "0000036946" "00025986" "10" "1195" "-63" "1195" "-63" "c.1195-63G>A" "r.(=)" "p.?" "10i" "0000036947" "00025986" "10" "1195" "-63" "1195" "-63" "c.1195-63G>A" "r.(=)" "p.?" "10i" "0000036948" "00025986" "10" "1306" "8" "1306" "8" "c.1306+8G>A" "r.(=)" "p.?" "11i" "0000036949" "00025986" "10" "1306" "8" "1306" "8" "c.1306+8G>A" "r.(=)" "p.?" "11i" "0000036950" "00025986" "10" "1551" "-63" "1551" "-63" "c.1551-63T>C" "r.(=)" "p.?" "12i" "0000036951" "00025986" "10" "1551" "-63" "1551" "-63" "c.1551-63T>C" "r.(=)" "p.?" "12i" "0000036952" "00025986" "10" "1689" "0" "1689" "0" "c.1689C>T" "r.(?)" "p.(Ser563=)" "15" "0000036953" "00025986" "10" "1689" "0" "1689" "0" "c.1689C>T" "r.(?)" "p.(Ser563=)" "15" "0000036954" "00025986" "90" "704" "0" "709" "0" "c.704_709del" "r.(?)" "p.(Glu235_Ser236del)" "6" "0000036955" "00025986" "90" "-57" "20" "169" "5" "c.-57+20_169+5del" "r.0?" "p.?" "1_1i" "0000064344" "00025986" "10" "1662" "-4" "1662" "-4" "c.1662-4G>A" "r.spl?" "p.?" "" "0000079510" "00025986" "90" "992" "-2" "992" "-2" "c.992-2A>G" "r.spl?" "p.?" "" "0000369158" "00025986" "70" "992" "0" "992" "0" "c.992G>A" "r.(?)" "p.(Gly331Asp)" "" "0000369159" "00025986" "90" "1259" "0" "1259" "0" "c.1259dup" "r.(?)" "p.(Arg421LysfsTer3)" "" "0000369160" "00025986" "90" "1644" "0" "1644" "0" "c.1644G>A" "r.(?)" "p.(Trp548Ter)" "" "0000369161" "00025986" "90" "1412" "0" "1412" "0" "c.1412G>A" "r.(?)" "p.(Trp471Ter)" "" "0000369162" "00025986" "90" "384" "0" "391" "0" "c.384_391dup" "r.(?)" "p.(Phe131Ter)" "" "0000369163" "00025986" "90" "370" "-1" "370" "-1" "c.370-1G>A" "r.spl?" "p.?" "" "0000369164" "00025986" "90" "1644" "0" "1644" "0" "c.1644G>A" "r.(?)" "p.(Trp548Ter)" "" "0000369165" "00025986" "90" "34" "0" "34" "0" "c.34G>T" "r.(?)" "p.(Glu12Ter)" "" "0000369166" "00025986" "90" "1342" "0" "1342" "0" "c.1342C>T" "r.(?)" "p.(Arg448Ter)" "" "0000369167" "00025986" "90" "1081" "-557" "94085" "0" "c.(1080+1_1081-557)_(*92045_*93117)del" "r.?" "p.?" "" "0000369168" "00025986" "90" "1573" "0" "1573" "0" "c.1573G>T" "r.(?)" "p.(Glu525Ter)" "" "0000369169" "00025986" "90" "1342" "0" "1342" "0" "c.1342C>T" "r.(?)" "p.(Arg448Ter)" "" "0000369170" "00025986" "90" "1573" "0" "1573" "0" "c.1573G>T" "r.(?)" "p.(Glu525Ter)" "" "0000408053" "00025986" "90" "1421" "0" "1421" "0" "c.1421del" "r.(?)" "p.(Gly474ValfsTer26)" "" "0000500681" "00025986" "90" "743" "3" "743" "6" "c.743+3_743+6del" "r.794_899del" "p.?" "" "0000652799" "00025986" "70" "524" "5" "524" "5" "c.524+5G>A" "r.spl?" "p.?" "" "0000660594" "00025986" "90" "370" "-9" "370" "-5" "c.370-9_370-5del" "r.spl?" "p.?" "" "0000683351" "00025986" "70" "1398" "0" "1399" "0" "c.1398_1399del" "r.(?)" "p.(Phe468TyrfsTer23)" "" "0000683352" "00025986" "70" "637" "1" "637" "1" "c.637+1G>A" "r.spl" "p.?" "" "0000867061" "00025986" "30" "256" "0" "256" "0" "c.256A>G" "r.(?)" "p.(Ser86Gly)" "" "0000895940" "00025986" "50" "275" "0" "275" "0" "c.275T>C" "r.(?)" "p.(Val92Ala)" "" "0000936496" "00025986" "90" "1342" "0" "1342" "0" "c.1342C>T" "r.(?)" "p.(Arg448Ter)" "" "0000984470" "00025986" "30" "1359" "0" "1359" "0" "c.1359T>C" "r.(?)" "p.(Tyr453=)" "" "0000984471" "00025986" "30" "1734" "0" "1734" "0" "c.1734C>T" "r.(?)" "p.(Ile578=)" "" "0001006451" "00025986" "50" "-35" "0" "-35" "0" "c.-35G>A" "r.(?)" "p.(=)" "" "0001029893" "00025986" "70" "538" "0" "2024" "0" "c.538_2024del" "r.(?)" "p.(Gly180ThrfsTer12)" "5_16" "0001029918" "00025986" "90" "953" "0" "961" "0" "c.953_961del" "r.(?)" "p.(Trp318_Thr320del)" "" "0001029919" "00025986" "90" "953" "0" "961" "0" "c.953_961del" "r.(?)" "p.(Trp318_Thr320del)" "" "0001029920" "00025986" "90" "953" "0" "961" "0" "c.953_961del" "r.(?)" "p.(Trp318_Thr320del)" "" "0001029921" "00025986" "90" "953" "0" "961" "0" "c.953_961del" "r.(?)" "p.(Trp318_Thr320del)" "" "0001029922" "00025986" "90" "953" "0" "961" "0" "c.953_961del" "r.(?)" "p.(Trp318_Thr320del)" "" "0001029923" "00025986" "90" "953" "0" "961" "0" "c.953_961del" "r.(?)" "p.(Trp318_Thr320del)" "" "0001029924" "00025986" "90" "370" "-9" "370" "-5" "c.370-9_370-5del" "r.(526_603del)" "p.(Val176_Arg201del)" "" "0001029925" "00025986" "90" "370" "-9" "370" "-5" "c.370-9_370-5del" "r.[526_603del|0.9,=|0.10]" "p.[Val176_Arg201del,=]" "" "0001029926" "00025986" "90" "1404" "0" "1404" "0" "c.1404dup" "r.(1404dup)" "p.(Thr469TyrfsTer23)" "" "0001029927" "00025986" "90" "524" "1" "524" "1" "c.524+1G>T" "r.spl" "p.?" "" "0001029928" "00025986" "90" "109" "0" "109" "0" "c.109T>C" "r.(?)" "p.(Trp37Arg)" "" "0001029929" "00025986" "70" "1297" "0" "1299" "0" "c.1297_1299del" "r.(?)" "p.(Met433del)" "" "0001029930" "00025986" "70" "109" "0" "109" "0" "c.109T>M" "r.(?)" "p.(Trp37Arg)" "" "0001029931" "00025986" "70" "109" "0" "109" "0" "c.109T>M" "r.(?)" "p.(Trp37Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 65 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002168" "0000000209" "0000002169" "0000000209" "0000003255" "0000000209" "0000003256" "0000000210" "0000009865" "0000000210" "0000009866" "0000000210" "0000011232" "0000000210" "0000011233" "0000000210" "0000011234" "0000016964" "0000036937" "0000016965" "0000036938" "0000016966" "0000036939" "0000016967" "0000036940" "0000016968" "0000036941" "0000016969" "0000036942" "0000016972" "0000036944" "0000016972" "0000036947" "0000016972" "0000036949" "0000016972" "0000036951" "0000016972" "0000036953" "0000016973" "0000036945" "0000016974" "0000036946" "0000016975" "0000036948" "0000016976" "0000036950" "0000016977" "0000036952" "0000016978" "0000036954" "0000016979" "0000036943" "0000016999" "0000036955" "0000037219" "0000064344" "0000050530" "0000079510" "0000165493" "0000369158" "0000165494" "0000369159" "0000165495" "0000369160" "0000165496" "0000369161" "0000165497" "0000369162" "0000165498" "0000369163" "0000165499" "0000369164" "0000165500" "0000369165" "0000165501" "0000369166" "0000165502" "0000369167" "0000165503" "0000369168" "0000165504" "0000369169" "0000165505" "0000369170" "0000184084" "0000408053" "0000247795" "0000500681" "0000296110" "0000652799" "0000297894" "0000660594" "0000308917" "0000683351" "0000308918" "0000683352" "0000440202" "0000936496" "0000466071" "0001029893" "0000466087" "0001029918" "0000466088" "0001029919" "0000466089" "0001029920" "0000466090" "0001029921" "0000466091" "0001029922" "0000466092" "0001029923" "0000466093" "0001029924" "0000466094" "0001029925" "0000466095" "0001029926" "0000466096" "0001029927" "0000466097" "0001029928" "0000466098" "0001029929" "0000466099" "0001029930" "0000466100" "0001029931"