### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = STS) # 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}}" "STS" "steroid sulfatase (microsomal), isozyme S" "X" "p22.32" "unknown" "NG_021472.2" "UD_132119061137" "" "https://www.LOVD.nl/STS" "" "1" "11425" "412" "300747" "1" "1" "1" "1" "MANE select NM_001320752.2\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/STS_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2022-04-20 10:51:14" "00000" "2025-11-01 13:22:20" ## 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}}" "00025792" "STS" "transcript variant 4" "000" "NM_001320752.2" "" "NP_001307681.2" "" "" "" "-505" "6117" "1737" "7065753" "7272682" "00006" "2022-12-26 12:35:15" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02242" "XLI" "ichthyosis, X-linked (XLI)" "XLR" "308100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02784" "MCPH5" "microcephaly, type 5, autosomal recessive (MCPH-5)" "AR" "608716" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05198" "KAL" "Kallmann syndrome (KAL)" "" "" "" "" "" "00006" "2016-10-21 14:34:27" "" "" "05421" "microcephaly" "microcephaly" "" "" "" "" "" "00006" "2018-04-15 11:41:15" "" "" "05495" "HPT" "hyperparathyroidism" "" "" "" "" "" "00006" "2018-11-01 21:31:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "STS" "02242" ## Individuals ## Do not remove or alter this header ## ## Count = 84 "{{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" "" "" "" "" "00206831" "" "" "" "1" "" "00125" "{PMID:Yen 1987:3032454}" "8/10 patients complete gene deletion" "M" "" "" "" "0" "" "" "" "" "00206832" "" "" "" "1" "" "00125" "{PMID:Bonifas 1987:3480541}" "14/15 complete gene deletion" "M" "" "" "" "0" "" "" "" "" "00206833" "" "" "" "1" "" "00125" "{PMID:Conary 1987:3034252}" "2/3 complete gene deletion" "M" "" "" "" "0" "" "" "" "" "00206834" "" "" "" "1" "" "00125" "{PMID:Gillard 1987:2884621}" "8/9 complete gene deletion" "M" "" "" "" "0" "" "" "" "" "00206836" "" "" "" "1" "" "00125" "{PMID:Ballabio 1989:3480263}" "16 men from 10 families complete gene deletion" "M" "" "Italy" "" "0" "" "" "" "" "00206837" "" "" "" "1" "" "00125" "{PMID:Shapiro 1989:2813406}" "27/30 complete gene deletion" "M" "" "" "" "0" "" "" "" "" "00206838" "" "" "" "1" "" "00125" "{PMID:Shapiro 1989:2813406}" "patient J.H." "M" "" "" "" "0" "" "" "" "" "00207342" "" "" "" "1" "" "00125" "{PMID:Basler 1992:1539590}" "patient D (R.B.)" "M" "" "Italy" "" "0" "" "" "" "" "00207343" "" "" "" "1" "" "00125" "{PMID:Basler 1992:1539590}" "Patient A (T.R.)" "M" "" "Scotland" "" "0" "" "" "" "" "00207344" "" "" "" "1" "" "00125" "{PMID:Basler 1992:1539590}" "Patient C (R.E.)" "M" "" "Italy" "" "0" "" "" "" "" "00207346" "" "" "" "1" "" "00125" "{PMID:Bernatowicz 1992:1639422}" "first described in Ballabio (1989) Genomics 4,36" "M" "" "" "" "0" "" "" "" "" "00207427" "" "" "" "1" "" "00125" "{PMID:Sugawara 2000:10679952}" "" "M" "" "" "" "0" "" "" "" "" "00207429" "" "" "" "1" "" "00125" "{PMID:Sugawara 1993:8186420}" "6/6 complete gene deletion" "M" "" "Japan" "" "0" "" "" "" "" "00207431" "" "" "" "1" "" "00125" "{PMID:Alperin 1997:9252398}" "Patient Z" "M" "" "" "" "0" "" "" "" "" "00207432" "" "" "" "1" "" "00125" "{PMID:Alperin 1997:9252398}" "Patient S" "M" "" "" "" "0" "" "" "" "" "00207433" "" "" "" "1" "" "00125" "{PMID:Alperin 1997:9252398}" "Patient T" "M" "" "" "" "0" "" "" "" "" "00207436" "" "" "" "1" "" "00125" "{PMID:Morita 1997:9242515}" "8/9 complete gene deletion" "M" "" "Japan" "" "0" "" "" "" "" "00207438" "" "" "" "1" "" "00125" "{PMID:Morita 1997:9242515}" "" "M" "" "Japan" "" "0" "" "" "" "" "00207440" "" "" "" "1" "" "00125" "{PMID:Oyama 2000:10844566}" "Patient A" "M" "" "Japan" "" "0" "" "" "" "" "00207441" "" "" "" "1" "" "00125" "{PMID:Oyama 2000:10844566}" "Patient B" "M" "" "Japan" "" "0" "" "" "" "" "00207442" "" "" "" "1" "" "00125" "{PMID:Valdes-Flores 2001:11231321}" "partial gene deletion" "M" "" "Mexico" "" "0" "" "" "" "" "00207444" "" "" "" "1" "" "00125" "{PMID:Valdes-Flores 2001:11411918}" "" "M" "" "Mexico" "" "0" "" "" "" "" "00207446" "" "" "" "1" "" "00125" "{PMID:Valdes-Flores 2001:11676848}" "" "M" "" "Mexico" "" "0" "" "" "" "" "00207448" "" "" "" "1" "" "00125" "{PMID:Gonzalez-Huerta 2003:12864806}" "" "M" "" "Mexico" "" "0" "" "" "" "" "00207449" "" "" "" "1" "" "00125" "{PMID:Liao 2007:17657246}" "Also p.R501* FLG mutation present" "M" "" "Scotland" "" "0" "" "" "" "" "00207451" "" "" "" "1" "" "00125" "{PMID:Murtaza 2014:24480088}" "Family D1" "M" "" "Pakistan" "" "0" "" "" "" "" "00207452" "" "" "" "1" "" "00125" "{PMID:Murtaza 2014:24480088}" "Family D2 (includes female patient), D3, D23" "M" "" "Pakistan" "" "0" "" "" "" "" "00207453" "" "" "" "1" "" "00125" "{PMID:Winge 2011:21530180}" "" "M" "" "" "" "0" "" "" "" "" "00207454" "" "" "" "1" "" "00125" "{PMID:Takeichi 2015:26169345}" "" "M" "" "Japan" "" "0" "" "" "" "" "00207455" "" "" "" "1" "" "00125" "{PMID:del Refugio Rivera Vega 2015:26421812}" "" "M" "" "Mexico" "" "0" "" "" "" "" "00207463" "" "" "" "1" "" "00125" "{PMID:Diociaiuti 2016:26762237}" "patient ID-49" "M" "" "Italy" "" "0" "" "" "" "" "00207465" "" "" "" "1" "" "00125" "{PMID:Diociaiuti 2016:26762237}" "patient ID-47" "M" "" "Italy" "" "0" "" "" "" "" "00207466" "" "" "" "1" "" "00125" "{PMID:Diociaiuti 2016:26762237}" "patient ID-48" "M" "" "Italy" "" "0" "" "" "" "" "00207476" "" "" "" "1" "" "00125" "{PMID:Diociaiuti 2016:26762237}" "8/13 complete gene deletion. patient ID-52, ID-53, ID-54, ID-55, ID-56, ID-57, ID-58, ID-59" "M" "" "Italy" "" "0" "" "" "" "" "00207477" "" "" "" "1" "" "00125" "{PMID:Oyama 2016:26387488}" "patient 1" "M" "" "Japan" "" "0" "" "" "" "" "00207478" "" "" "" "1" "" "00125" "{PMID:Oyama 2016:26387488}" "patient 2" "M" "" "Japan" "" "0" "" "" "" "" "00207479" "" "" "" "1" "" "00125" "{PMID:Wei 2011:22216297}" "" "M" "" "China" "" "0" "" "" "" "P2" "00207482" "" "" "" "1" "" "00125" "{PMID:Trevisson 2015:25726327}" "Patient with independent mutations affecting the KAL1 and STS genes" "M" "" "" "" "0" "" "" "" "" "00207483" "" "" "" "1" "" "00125" "{PMID:Goodwin 2016:26731259}" "patient also having HDR syndrome due to GATA3 mutation" "M" "" "" "" "0" "" "" "" "" "00207485" "" "" "" "1" "" "00125" "{PMID:Retterer 2016:26633542}" "" "M" "" "" "" "0" "" "" "" "" "00207487" "" "" "" "1" "" "00125" "{PMID:Bruno 2011:21850686}" "" "M" "" "Australia" "" "0" "" "" "" "Pat13" "00207489" "" "" "" "1" "" "00125" "{PMID:Bruno 2011:21850686}" "" "M" "" "Australia" "" "0" "" "" "" "Pat14" "00207495" "" "" "" "1" "" "00125" "{PMID:Nagtzaam 2012:21985695}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00207499" "" "" "" "1" "" "00125" "{PMID:Saeki 1998:9764155}" "11/12 patient complete gene deletion" "M" "" "Japan" "" "0" "" "" "" "" "00207509" "" "" "" "1" "" "00125" "{PMID:Abdel-Hamid 2016:27192889}" "" "M" "" "Egypt" "" "0" "" "" "" "" "00207510" "" "" "" "1" "" "00125" "{PMID:Canueta 2010:20236202}" "30/40 complete gene deletion" "M" "" "Spain" "" "0" "" "" "" "" "00207511" "" "" "" "1" "" "00125" "{PMID:Idkowiak 2016:27003302}" "" "M" "" "" "" "0" "" "" "" "" "00207512" "" "" "" "1" "" "00125" "{PMID:Idkowiak 2016:27003302}" "patient P16" "M" "" "" "" "0" "" "" "" "" "00207514" "" "" "" "1" "" "00125" "{PMID:Idkowiak 2016:27003302}" "27/30 complete gene deletion" "M" "" "" "" "0" "" "" "" "" "00211187" "" "" "" "1" "" "00125" "{PMID:Ohyama 2018:30221377}" "two affected brothers" "M" "" "" "" "0" "" "" "" "" "00211188" "" "" "" "1" "" "00125" "{PMID:Diociaiuti 2018:29672931}" "patient 3" "M" "" "Italy" "" "0" "" "" "" "" "00211189" "" "" "" "1" "" "00125" "{PMID:Diociaiuti 2018:29672931}" "patient 8" "M" "" "Italy" "" "0" "" "" "" "" "00211190" "" "" "" "1" "" "00125" "{PMID:Diociaiuti 2018:29672931}" "patient 4" "M" "" "Italy" "" "0" "" "" "" "" "00211191" "" "" "" "1" "" "00125" "{PMID:Diociaiuti 2018:29672931}" "patient 12" "M" "" "Italy" "" "0" "" "" "" "" "00211192" "" "" "" "1" "" "00125" "{PMID:Diociaiuti 2018:29672931}" "27/35 patients complete gene deletion" "M" "" "Italy" "" "0" "" "" "" "" "00211193" "" "" "" "1" "" "00125" "{PMID:Diociaiuti 2018:29672931}" "" "M" "" "Italy" "" "0" "" "" "" "" "00275577" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00358936" "" "" "" "1" "" "00125" "{PMID:Diociaiuti 2019:30834456}" "" "F" "yes" "India" "" "0" "" "" "" "" "00358940" "" "" "" "1" "" "00125" "{PMID:Borská 2019:31046801}" "patient no.57" "M" "" "Czech Republic" "" "0" "" "" "" "" "00358941" "" "" "" "1" "" "00125" "{PMID:Borská 2019:31046801}" "patient no.58" "M" "" "Czech Republic" "" "0" "" "" "" "" "00358942" "" "" "" "16" "" "00125" "{PMID:Afzal 2020:32005174}" "five generation consanguineous family with 14 affected males and 2 females" "" "" "Pakistan" "" "0" "" "" "" "" "00375184" "" "" "" "1" "" "00125" "Nagtzaam et al, submitted" "patient ID 6" "M" "" "Netherlands" "" "0" "" "" "" "" "00375204" "" "" "" "1" "" "00125" "Nagtzaam et al, submitted" "patient ID 2" "M" "" "Netherlands" "" "0" "" "" "" "" "00375205" "" "" "" "1" "" "00125" "Nagtzaam et al, submitted" "patient ID 3" "M" "" "Netherlands" "" "0" "" "" "" "" "00375206" "" "" "" "1" "" "00125" "Nagtzaam et al, submitted" "patient ID 4" "M" "" "Netherlands" "" "0" "" "" "" "" "00375219" "" "" "" "1" "" "00125" "Nagtzaam et al, submitted" "patient ID 7" "M" "" "Netherlands" "" "0" "" "" "" "" "00375220" "" "" "" "1" "" "00125" "Nagtzaam et al, submitted" "patient ID 8" "M" "" "Netherlands" "" "0" "" "" "" "" "00375221" "" "" "" "1" "" "00125" "Nagtzaam et al, submitted" "patient ID 9" "M" "" "Netherlands" "" "0" "" "" "" "" "00375222" "" "" "" "1" "" "00125" "Nagtzaam et al, submitted" "patient ID 10" "M" "" "Netherlands" "" "0" "" "" "" "" "00375223" "" "" "" "1" "" "00125" "Nagtzaam et al, submitted" "patient ID 11" "M" "" "Netherlands" "" "0" "" "" "" "" "00375224" "" "" "" "1" "" "00125" "Nagtzaam et al, submitted" "patient ID 12" "M" "" "Netherlands" "" "0" "" "" "" "" "00375225" "" "" "" "1" "" "00125" "Nagtzaam et al, submitted" "patient ID 13" "M" "" "Netherlands" "" "0" "" "" "" "" "00375226" "" "" "" "1" "" "00125" "Nagtzaam et al, submitted" "patient ID 14" "M" "" "Netherlands" "" "0" "" "" "" "" "00375227" "" "" "" "1" "" "00125" "Nagtzaam et al, submitted" "patient ID 15" "M" "" "Netherlands" "" "0" "" "" "" "" "00375228" "" "" "" "57" "" "00125" "Nagtzaam et al, submitted" "patient ID 16-72" "M" "" "Netherlands" "" "0" "" "" "" "" "00375229" "" "" "" "1" "" "00125" "Nagtzaam et al, submitted" "patient ID 1" "M" "" "Netherlands" "" "0" "" "" "" "" "00395575" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-1018" "00408295" "" "" "" "3" "" "04296" "{PMID:Chouk 2022:35883075}" "5-generation family, 3 affected (3M), unaffected heterozygous carrier females" "M" "yes" "Tunisia" "" "0" "" "" "" "Fam2PatV2/3/8" "00423248" "" "" "" "5" "" "04296" "{PMID:Chouk 2022:35883075}" "3-generation family, 5 affected (5M), unaffected heterozygous carrier females" "M" "no" "Tunisia" "" "0" "" "" "" "Fam1PatIII6/8/9/10" "00423249" "" "" "" "8" "" "04296" "{PMID:Chouk 2022:35883075}" "4-generation family, 8 affected (8M), unaffected heterozygous carrier females" "M" "no" "Tunisia" "" "0" "" "" "" "Fam3PatIV7/12" "00428249" "" "" "" "1" "" "00006" "{PMID:Zhang 2022:35929940}" "" "M" "" "China" "" "0" "" "" "" "patient" "00433928" "" "" "" "1" "" "00006" "{PMID:Abdel-Hamid 2016:27250695}, {PMID:Abdel-Hamid 2016:27192889}" "family, 1 affected" "M" "no" "Egypt" "" "0" "" "" "" "Fam7Pat8" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 88 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00206831" "02242" "00206832" "02242" "00206833" "02242" "00206834" "02242" "00206836" "02242" "00206837" "02242" "00206838" "02242" "00207342" "02242" "00207343" "02242" "00207344" "02242" "00207346" "02242" "00207427" "02242" "00207429" "02242" "00207431" "02242" "00207432" "02242" "00207433" "02242" "00207436" "02242" "00207438" "02242" "00207440" "02242" "00207441" "02242" "00207442" "02242" "00207444" "02242" "00207446" "02242" "00207448" "02242" "00207449" "02242" "00207451" "02242" "00207452" "02242" "00207453" "02242" "00207454" "02242" "00207455" "02242" "00207463" "02242" "00207465" "02242" "00207466" "02242" "00207476" "02242" "00207477" "02242" "00207478" "02242" "00207479" "02242" "00207482" "02242" "00207482" "05198" "00207483" "02242" "00207483" "05495" "00207485" "02242" "00207487" "02242" "00207489" "02242" "00207495" "02242" "00207499" "02242" "00207509" "02242" "00207509" "02784" "00207510" "02242" "00207511" "02242" "00207512" "02242" "00207514" "02242" "00211187" "02242" "00211188" "02242" "00211189" "02242" "00211190" "02242" "00211191" "02242" "00211192" "02242" "00211193" "02242" "00275577" "00198" "00358936" "02242" "00358940" "02242" "00358941" "02242" "00358942" "02242" "00375184" "02242" "00375204" "02242" "00375205" "02242" "00375206" "02242" "00375219" "02242" "00375220" "02242" "00375221" "02242" "00375222" "02242" "00375223" "02242" "00375224" "02242" "00375225" "02242" "00375226" "02242" "00375227" "02242" "00375228" "02242" "00375229" "02242" "00395575" "04214" "00408295" "02242" "00423248" "02242" "00423249" "02242" "00428249" "00198" "00433928" "02242" "00433928" "05421" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 02242, 02784, 04214, 05198, 05421, 05495 ## Count = 86 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "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" "" "" "" "" "" "" "" "" "" "0000154620" "02242" "00206831" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154621" "02242" "00206832" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154622" "02242" "00206833" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154623" "02242" "00206834" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154625" "02242" "00206836" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154626" "02242" "00206837" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154627" "02242" "00206838" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155123" "02242" "00207342" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155124" "02242" "00207343" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155125" "02242" "00207344" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155126" "02242" "00207346" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155206" "02242" "00207427" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155207" "02242" "00207429" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155209" "02242" "00207431" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155210" "02242" "00207432" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155211" "02242" "00207433" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155214" "02242" "00207436" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155215" "02242" "00207436" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155217" "02242" "00207438" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155219" "02242" "00207440" "00125" "Familial, X-linked recessive" "61y" "" "" "" "" "" "" "" "" "" "" "" "" "0000155220" "02242" "00207441" "00125" "Familial, X-linked recessive" "32y" "" "" "" "" "" "" "" "" "" "" "" "" "0000155221" "02242" "00207442" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155222" "02242" "00207444" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155225" "02242" "00207446" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155226" "02242" "00207448" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155227" "02242" "00207449" "00125" "Familial, X-linked recessive" "09y" "marked hyperkeratosis" "" "" "" "" "" "" "" "" "" "" "" "0000155230" "02242" "00207451" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155231" "02242" "00207452" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155232" "02242" "00207453" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155233" "02242" "00207454" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155234" "02242" "00207455" "00125" "Familial, X-linked recessive" "09y" "" "" "" "" "" "" "" "" "" "" "" "" "0000155243" "02242" "00207463" "00125" "Familial, X-linked recessive" "08y" "" "" "" "" "" "" "" "" "" "" "" "" "0000155244" "02242" "00207465" "00125" "Familial, X-linked recessive" "17y" "" "" "" "" "" "" "" "" "" "" "" "" "0000155245" "02242" "00207466" "00125" "Familial, X-linked recessive" "16y" "" "" "" "" "" "" "" "" "" "" "" "" "0000155254" "02242" "00207476" "00125" "Familial, X-linked recessive" "" "Patient ID-52 showed residue of collodion membrane and palmoplantar involvement" "" "" "" "" "" "" "" "" "" "" "" "0000155255" "02242" "00207477" "00125" "Familial, X-linked recessive" "44y" "" "" "" "" "" "" "" "" "" "" "" "" "0000155256" "02242" "00207478" "00125" "Familial, X-linked recessive" "73y" "" "" "" "" "" "" "" "" "" "" "" "" "0000155257" "02242" "00207479" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155259" "02242" "00207482" "00125" "Familial, X-linked recessive" "09y" "includes Kallman phenotype" "" "" "" "" "" "" "" "" "" "" "" "0000155261" "02242" "00207483" "00125" "Familial, X-linked recessive" "" "Patient also having hypoparathyroidism and deafness" "" "07y" "" "" "" "" "" "" "" "" "" "0000155262" "02242" "00207485" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155264" "02242" "00207487" "00125" "Familial, X-linked recessive" "08y" "" "" "" "" "" "" "" "" "" "" "" "" "0000155266" "02242" "00207489" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155272" "02242" "00207495" "00125" "Familial, X-linked recessive" "18y" "" "" "" "" "" "" "" "" "" "" "" "" "0000155277" "02242" "00207499" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155287" "02242" "00207509" "00125" "Familial, X-linked recessive" "" "Also primary microcephaly-5" "" "" "" "" "" "" "" "" "" "" "" "0000155288" "02242" "00207510" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155289" "02242" "00207511" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155290" "02242" "00207512" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155292" "02242" "00207514" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000159669" "02242" "00211187" "00125" "Familial, X-linked recessive" "04y" "" "" "" "" "" "" "" "" "" "" "" "" "0000159670" "02242" "00211188" "00125" "Familial, X-linked recessive" "" "" "00y01m" "" "" "" "" "" "" "" "" "" "" "0000159671" "02242" "00211189" "00125" "Familial, X-linked recessive" "" "" "00y00m00d" "" "" "" "" "" "" "" "" "" "" "0000159672" "02242" "00211190" "00125" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000159673" "02242" "00211191" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000159674" "02242" "00211192" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000159675" "02242" "00211193" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210197" "00198" "00275577" "01164" "Unknown" "" "Ichthyosis (HP:0008064)" "" "" "" "" "" "" "" "" "" "" "" "0000254236" "02242" "00358936" "00125" "Familial, X-linked recessive" "08y" "Girl with X-linked ichthyosis" "" "08y" "" "" "" "" "" "" "X-linked ichthyosis" "" "" "0000254239" "02242" "00358940" "00125" "Familial, X-linked recessive" "" "collodion membrane" "" "10y" "" "" "" "" "" "" "X-linked ichthyosis" "" "" "0000254240" "02242" "00358941" "00125" "Familial, X-linked recessive" "00y09m" "collodion membrane, ectropion and eclabion" "" "" "" "" "" "" "" "" "X-linked ichthyosis" "" "" "0000254241" "02242" "00358942" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "X-linked ichthyosis" "" "" "0000270394" "02242" "00375184" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "X-linked ichthyosis" "X-linked ichthyosis" "" "0000270416" "02242" "00375204" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "X-linked ichthyosis" "X-linked ichthyosis" "" "0000270417" "02242" "00375205" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "X-linked ichthyosis" "X-linked ichthyosis" "" "0000270418" "02242" "00375206" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "X-linked ichthyosis" "X-linked ichthyosis" "" "0000270429" "02242" "00375219" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "X-linked ichthyosis" "X-linked ichthyosis" "" "0000270430" "02242" "00375220" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "X-linked ichthyosis" "X-linked ichthyosis" "" "0000270431" "02242" "00375221" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "X-linked ichthyosis" "X-linked ichthyosis" "" "0000270432" "02242" "00375222" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "X-linked ichthyosis" "X-linked ichthyosis" "" "0000270433" "02242" "00375223" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "X-linked ichthyosis" "X-linked ichthyosis" "" "0000270434" "02242" "00375224" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "X-linked ichthyosis" "X-linked ichthyosis" "" "0000270435" "02242" "00375225" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "X-linked ichthyosis" "X-linked ichthyosis" "" "0000270436" "02242" "00375226" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "X-linked ichthyosis" "X-linked ichthyosis" "" "0000270437" "02242" "00375227" "00125" "Unknown" "" "" "" "" "" "" "" "" "" "" "ichthyosis vulgaris" "X-linked ichthyosis" "" "0000270438" "02242" "00375228" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "X-linked ichthyosis" "X-linked ichthyosis" "" "0000270439" "02242" "00375229" "00125" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "X-linked ichthyosis" "X-linked ichthyosis" "" "0000288773" "04214" "00395575" "00000" "Unknown" "" "astigmatism, early onset rod-cone dystrophy, hypermetropia, strabismus, global developmental delay, tip-toe gait, talipes equinovarus, anteverted nares, broad nasal tip, depressed nasal bridge, hypertelorism, long philtrum, low anterior hairline, narrow palate, retrognathia, thin vermilion border" "" "" "" "" "" "" "" "" "Early-onset retinitis pigmentosa, deletion syndrome" "" "" "0000300422" "02242" "00408295" "04296" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000314453" "02242" "00423248" "04296" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "XLI" "X-linked ichthyosis" "" "0000314454" "02242" "00423249" "04296" "Familial, X-linked recessive" "" "see paper" "" "" "" "" "" "" "" "" "XLI" "X-linked ichthyosis" "" "0000319160" "00198" "00428249" "00006" "Unknown" "" "comorbid X-linked ichthyosis, Duchenne muscular dystrophy" "" "" "" "" "" "" "" "" "DMD;XLI" "comorbid X-linked ichthyosis, Duchenne muscular dystrophy" "" "0000324306" "05421" "00433928" "00006" "Familial, autosomal recessive" "11y" "normal birth weight; weight SD-0.7, height SD-1.4, microcephaly OFC SD-7.6; moderate intellectual disability DQ/IQ45; speech is not understandable, cannot do self-caremirror image hand movements; simplified gyral pattern" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000324373" "02242" "00433928" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "XLI" "ichthyosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 84 "{{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" "" "" "0000207864" "00206831" "1" "00125" "00125" "2018-11-16 11:34:07" "" "" "Southern" "DNA" "blood" "" "0000207865" "00206832" "1" "00125" "00125" "2018-11-16 11:55:19" "" "" "Southern" "DNA" "blood" "" "0000207866" "00206833" "1" "00125" "00125" "2018-11-16 12:13:40" "" "" "Southern" "DNA" "fibroblasts" "" "0000207867" "00206834" "1" "00125" "00125" "2018-11-16 12:25:22" "" "" "Southern" "DNA" "blood" "" "0000207869" "00206836" "1" "00125" "00125" "2018-11-16 12:37:29" "" "" "Southern" "DNA" "" "" "0000207870" "00206837" "1" "00125" "00125" "2018-11-16 12:50:37" "" "" "Southern" "DNA" "blood" "" "0000207871" "00206838" "1" "00125" "00125" "2018-11-16 13:05:42" "" "" "SEQ" "DNA" "" "" "0000208378" "00207342" "1" "00125" "00125" "2018-11-20 09:34:31" "" "" "CMC" "RNA" "fibroblasts" "" "0000208379" "00207343" "1" "00125" "00125" "2018-11-20 09:44:36" "" "" "CMC" "RNA" "fibroblasts" "" "0000208380" "00207344" "1" "00125" "00125" "2018-11-20 09:51:32" "" "" "CMC" "RNA" "fibroblasts" "" "0000208383" "00207346" "1" "00125" "00125" "2018-11-20 10:14:15" "" "" "SEQ" "DNA" "" "" "0000208464" "00207427" "1" "00125" "00125" "2018-11-22 10:29:58" "" "" "SEQ" "DNA" "cord blood" "" "0000208466" "00207429" "1" "00125" "00125" "2018-11-22 10:39:36" "" "" "PCR" "DNA" "" "" "0000208468" "00207431" "1" "00125" "00125" "2018-11-22 10:58:10" "" "" "SEQ" "DNA" "" "" "0000208469" "00207432" "1" "00125" "00125" "2018-11-22 11:08:48" "" "" "SEQ" "RNA" "" "" "0000208470" "00207433" "1" "00125" "00125" "2018-11-22 11:13:01" "" "" "SEQ" "RNA" "" "" "0000208473" "00207436" "1" "00125" "00125" "2018-11-22 11:55:59" "" "" "PCR" "DNA" "" "" "0000208475" "00207438" "1" "00125" "00125" "2018-11-22 12:03:33" "" "" "SEQ" "DNA" "" "" "0000208477" "00207440" "1" "00125" "00125" "2018-11-22 12:17:13" "" "" "SEQ" "DNA" "blood" "" "0000208478" "00207441" "1" "00125" "00125" "2018-11-22 12:22:55" "" "" "SEQ" "DNA" "blood" "" "0000208479" "00207442" "1" "00125" "00125" "2018-11-22 12:39:39" "" "" "PCR" "DNA" "" "" "0000208480" "00207444" "1" "00125" "00125" "2018-11-22 12:57:36" "" "" "SEQ" "DNA" "" "" "0000208483" "00207446" "1" "00125" "00125" "2018-11-22 13:09:24" "" "" "SEQ" "DNA" "" "" "0000208484" "00207448" "1" "00125" "00125" "2018-11-22 13:20:21" "" "" "SEQ" "DNA" "" "" "0000208485" "00207449" "1" "00125" "00125" "2018-11-22 13:39:27" "" "" "SEQ" "DNA" "" "" "0000208488" "00207451" "1" "00125" "00125" "2018-11-22 14:47:40" "" "" "SEQ" "DNA" "" "" "0000208489" "00207452" "1" "00125" "00125" "2018-11-22 14:58:27" "" "" "PCR" "DNA" "" "" "0000208490" "00207453" "1" "00125" "00125" "2018-11-22 15:13:24" "" "" "SEQ" "DNA" "blood" "" "0000208491" "00207454" "1" "00125" "00125" "2018-11-22 15:24:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000208492" "00207455" "1" "00125" "00125" "2018-11-22 15:51:53" "" "" "SEQ" "DNA" "blood" "" "0000208501" "00207463" "1" "00125" "00125" "2018-11-22 17:50:37" "" "" "SEQ-NG" "DNA" "" "" "0000208502" "00207465" "1" "00125" "00125" "2018-11-22 17:57:05" "" "" "SEQ-NG" "DNA" "" "" "0000208503" "00207466" "1" "00125" "00125" "2018-11-22 18:01:12" "" "" "SEQ-NG" "DNA" "" "" "0000208513" "00207476" "1" "00125" "00125" "2018-11-23 13:36:41" "" "" "SEQ-NG" "DNA" "" "" "0000208514" "00207477" "1" "00125" "00125" "2018-11-23 14:09:45" "" "" "SEQ" "DNA" "" "" "0000208515" "00207478" "1" "00125" "00125" "2018-11-23 14:19:51" "" "" "SEQ" "DNA" "" "" "0000208516" "00207479" "1" "00125" "00125" "2018-11-23 14:46:12" "" "" "SEQ-NG" "DNA" "blood" "" "0000208518" "00207482" "1" "00125" "00125" "2018-11-23 15:10:29" "" "" "SEQ" "DNA" "" "" "0000208519" "00207483" "1" "00125" "00125" "2018-11-23 15:38:49" "" "" "SEQ-NG" "DNA" "" "" "0000208521" "00207485" "1" "00125" "00125" "2018-11-23 15:51:47" "" "" "SEQ-NG" "DNA" "" "" "0000208523" "00207487" "1" "00125" "00125" "2018-11-23 16:04:42" "" "" "arrayCGH" "DNA" "" "" "0000208525" "00207489" "1" "00125" "00125" "2018-11-23 16:14:50" "" "" "arrayCGH" "DNA" "" "" "0000208532" "00207495" "1" "00125" "00125" "2018-11-23 16:37:33" "" "" "arraySNP" "DNA" "blood" "" "0000208536" "00207499" "1" "00125" "00125" "2018-11-23 16:51:12" "" "" "PCR" "DNA" "" "" "0000208546" "00207509" "1" "00125" "00125" "2018-11-23 17:07:27" "" "" "?" "DNA" "" "" "0000208547" "00207510" "1" "00125" "00125" "2018-11-23 17:22:15" "" "" "PCR" "DNA" "" "" "0000208548" "00207511" "1" "00125" "00125" "2018-11-23 17:34:22" "" "" "SEQ" "DNA" "" "" "0000208549" "00207512" "1" "00125" "00125" "2018-11-23 17:39:17" "" "" "MLPA" "DNA" "" "" "0000208551" "00207514" "1" "00125" "00125" "2018-11-23 17:45:00" "" "" "MLPA" "DNA" "" "" "0000212263" "00211187" "1" "00125" "00125" "2019-01-03 22:06:25" "" "" "SEQ" "DNA" "" "" "0000212264" "00211188" "1" "00125" "00125" "2019-01-03 22:42:29" "" "" "SEQ-NG-I" "DNA" "" "" "0000212265" "00211189" "1" "00125" "00125" "2019-01-03 23:03:24" "" "" "SEQ-NG-I" "DNA" "" "" "0000212266" "00211190" "1" "00125" "00125" "2019-01-04 08:23:18" "" "" "SEQ-NG-I" "DNA" "" "" "0000212267" "00211191" "1" "00125" "00125" "2019-01-04 08:28:48" "" "" "SEQ-NG-I" "DNA" "" "" "0000212268" "00211192" "1" "00125" "00125" "2019-01-04 08:41:07" "" "" "MLPA" "DNA" "" "" "0000212269" "00211193" "1" "00125" "00125" "2019-01-04 08:48:16" "" "" "MLPA" "DNA" "" "" "0000276735" "00275577" "1" "01164" "01164" "2020-01-09 21:03:17" "" "" "SEQ-NG-S" "DNA" "" "" "0000360170" "00358936" "1" "00125" "00125" "2021-03-17 16:40:54" "" "" "SEQ-NG" "DNA" "blood" "" "0000360173" "00358940" "1" "00125" "00125" "2021-03-17 17:09:00" "" "" "SEQ-NG" "DNA" "" "" "0000360174" "00358941" "1" "00125" "00125" "2021-03-17 17:20:53" "" "" "SEQ-NG" "DNA" "" "" "0000360175" "00358942" "1" "00125" "00125" "2021-03-17 17:34:45" "" "" "SEQ" "DNA" "blood" "" "0000376378" "00375184" "1" "00125" "00125" "2021-05-28 16:34:26" "" "" "SEQ" "DNA" "blood" "" "0000376398" "00375204" "1" "00125" "00125" "2021-05-30 13:15:56" "" "" "MLPA" "DNA" "blood" "" "0000376399" "00375205" "1" "00125" "00125" "2021-05-30 15:18:22" "" "" "MLPA" "DNA" "blood" "" "0000376400" "00375206" "1" "00125" "00125" "2021-05-30 15:37:35" "" "" "SEQ" "DNA" "blood" "" "0000376413" "00375219" "1" "00125" "00125" "2021-05-31 14:41:40" "" "" "SEQ" "DNA" "blood" "" "0000376414" "00375220" "1" "00125" "00125" "2021-05-31 14:47:24" "" "" "SEQ" "DNA" "blood" "" "0000376415" "00375221" "1" "00125" "00125" "2021-05-31 14:56:46" "" "" "SEQ" "DNA" "blood" "" "0000376416" "00375222" "1" "00125" "00125" "2021-05-31 15:08:25" "" "" "SEQ" "DNA" "blood" "" "0000376417" "00375223" "1" "00125" "00125" "2021-05-31 15:15:03" "" "" "SEQ" "DNA" "blood" "" "0000376418" "00375224" "1" "00125" "00125" "2021-05-31 15:18:50" "" "" "SEQ" "DNA" "blood" "" "0000376419" "00375225" "1" "00125" "00125" "2021-05-31 15:22:03" "" "" "SEQ" "DNA" "blood" "" "0000376420" "00375226" "1" "00125" "00125" "2021-05-31 15:24:49" "" "" "SEQ" "DNA" "blood" "" "0000376421" "00375227" "1" "00125" "00125" "2021-05-31 15:31:28" "" "" "SEQ" "DNA" "blood" "" "0000376422" "00375228" "1" "00125" "00125" "2021-05-31 16:00:53" "" "" "MLPA" "DNA" "blood" "" "0000376423" "00375229" "1" "00125" "00125" "2021-05-31 16:12:14" "" "" "MLPA" "DNA" "blood" "" "0000396813" "00395575" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing | aCGH" "0000409553" "00408295" "1" "04296" "04296" "2022-04-20 00:53:09" "" "" "arrayCGH" "DNA" "Blood" "" "0000424558" "00423248" "1" "04296" "00006" "2022-04-20 00:38:54" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000424559" "00423249" "1" "04296" "00006" "2022-11-14 14:18:53" "00006" "2022-11-14 14:28:11" "arrayCGH;MLPA;SEQ" "DNA" "" "" "0000429660" "00428249" "1" "00006" "00006" "2022-12-26 12:29:47" "" "" "MLPA;SEQ-NG" "DNA" "" "WES" "0000435391" "00433928" "1" "00006" "00006" "2023-03-16 10:19:22" "00006" "2023-03-16 14:33:37" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 89 "{{screeningid}}" "{{geneid}}" "0000207864" "STS" "0000207865" "STS" "0000207866" "STS" "0000207867" "STS" "0000207869" "STS" "0000207870" "STS" "0000207871" "STS" "0000208378" "STS" "0000208379" "STS" "0000208380" "STS" "0000208383" "STS" "0000208464" "STS" "0000208466" "STS" "0000208468" "STS" "0000208469" "STS" "0000208470" "STS" "0000208473" "STS" "0000208475" "STS" "0000208477" "STS" "0000208478" "STS" "0000208479" "STS" "0000208480" "STS" "0000208483" "STS" "0000208484" "STS" "0000208485" "FLG" "0000208485" "STS" "0000208488" "STS" "0000208489" "STS" "0000208490" "FLG" "0000208490" "STS" "0000208491" "STS" "0000208492" "STS" "0000208501" "STS" "0000208502" "STS" "0000208503" "STS" "0000208513" "STS" "0000208514" "STS" "0000208515" "STS" "0000208516" "STS" "0000208518" "KAL1" "0000208518" "STS" "0000208519" "GATA3" "0000208519" "STS" "0000208521" "STS" "0000208523" "STS" "0000208525" "STS" "0000208532" "STS" "0000208536" "STS" "0000208546" "ASPM" "0000208546" "STS" "0000208547" "STS" "0000208548" "STS" "0000208549" "STS" "0000208551" "STS" "0000212263" "STS" "0000212264" "STS" "0000212265" "STS" "0000212266" "STS" "0000212267" "STS" "0000212268" "STS" "0000212269" "STS" "0000360170" "STS" "0000360173" "STS" "0000360174" "STS" "0000360175" "STS" "0000376378" "STS" "0000376398" "STS" "0000376399" "STS" "0000376400" "STS" "0000376413" "STS" "0000376414" "STS" "0000376415" "STS" "0000376416" "STS" "0000376417" "STS" "0000376418" "STS" "0000376419" "STS" "0000376420" "STS" "0000376421" "FLG" "0000376421" "STS" "0000376422" "STS" "0000376423" "STS" "0000396813" "NLGN4X" "0000409553" "STS" "0000424558" "STS" "0000424559" "STS" "0000429660" "DMD" "0000429660" "STS" "0000435391" "ASPM" "0000435391" "STS" ## 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 = 128 "{{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}}" "0000001776" "20" "50" "X" "7175882" "7175883" "del" "0" "00037" "STS_000004" "g.7175882_7175883del" "" "" "" "NM_000351.4:c.397+253_397+254del" "" "Germline" "" "" "" "" "" "g.7257841_7257842del" "" "VUS" "" "0000002762" "20" "50" "X" "7175869" "7175870" "del" "0" "00037" "STS_000028" "g.7175869_7175870del" "" "" "" "NM_000351.4:c.397+240_397+241del" "" "Germline" "" "" "" "" "" "g.7257828_7257829del" "" "VUS" "" "0000002763" "0" "50" "X" "7269976" "7269976" "del" "0" "00037" "STS_000026" "g.7269976del" "" "" "" "NM_000351.4:c.*1674del" "" "Germline" "" "" "" "" "" "g.7351935del" "" "VUS" "" "0000006249" "20" "50" "X" "7135908" "7135908" "subst" "0" "00037" "STS_000031" "g.7135908T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.7217867T>C" "" "VUS" "" "0000006250" "20" "50" "X" "7170925" "7170925" "subst" "0" "00037" "STS_000001" "g.7170925C>G" "" "" "" "NM_000351.4:c.12-312C>G" "" "Germline" "" "" "" "" "" "g.7252884C>G" "" "VUS" "" "0000006251" "20" "50" "X" "7178027" "7178027" "subst" "0" "00037" "STS_000006" "g.7178027C>T" "" "" "" "NM_000351.4:c.821+214C>T" "" "Germline" "" "" "" "" "" "g.7259986C>T" "" "VUS" "" "0000006252" "20" "50" "X" "7178057" "7178057" "subst" "0" "00037" "STS_000009" "g.7178057T>C" "" "" "" "NM_000351.4:c.821+244T>C" "" "Germline" "" "" "" "" "" "g.7260016T>C" "" "VUS" "" "0000006253" "20" "50" "X" "7243304" "7243304" "subst" "0" "00037" "STS_000023" "g.7243304G>A" "" "" "" "NM_000351.4:c.1097-76G>A" "" "Germline" "" "" "" "" "" "g.7325263G>A" "" "VUS" "" "0000006254" "20" "50" "X" "7270694" "7270694" "subst" "0" "00037" "STS_000019" "g.7270694G>A" "" "" "" "NM_000351.4:c.*2392G>A" "" "Germline" "" "" "" "" "" "g.7352653G>A" "" "VUS" "" "0000006255" "20" "50" "X" "7270996" "7270996" "subst" "0" "00037" "STS_000013" "g.7270996A>G" "" "" "" "NM_000351.4:c.*2694A>G" "" "Germline" "" "" "" "" "" "g.7352955A>G" "" "VUS" "" "0000006256" "20" "50" "X" "7272225" "7272225" "subst" "0" "00037" "STS_000016" "g.7272225G>A" "" "" "" "NM_000351.4:c.*3923G>A" "" "Germline" "" "" "" "" "" "g.7354184G>A" "" "VUS" "" "0000008248" "20" "50" "X" "7135908" "7135908" "subst" "0" "00037" "STS_000031" "g.7135908T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.7217867T>C" "" "VUS" "" "0000008249" "20" "50" "X" "7175882" "7175883" "del" "0" "00037" "STS_000004" "g.7175882_7175883del" "" "" "" "NM_000351.4:c.397+253_397+254del" "" "Germline" "" "" "" "" "" "g.7257841_7257842del" "" "VUS" "" "0000008250" "20" "50" "X" "7178027" "7178027" "subst" "0" "00037" "STS_000006" "g.7178027C>T" "" "" "" "NM_000351.4:c.821+214C>T" "" "Germline" "" "" "" "" "" "g.7259986C>T" "" "VUS" "" "0000008251" "20" "50" "X" "7178057" "7178057" "subst" "0" "00037" "STS_000009" "g.7178057T>C" "" "" "" "NM_000351.4:c.821+244T>C" "" "Germline" "" "" "" "" "" "g.7260016T>C" "" "VUS" "" "0000008252" "20" "50" "X" "7243304" "7243304" "subst" "0" "00037" "STS_000023" "g.7243304G>A" "" "" "" "NM_000351.4:c.1097-76G>A" "" "Germline" "" "" "" "" "" "g.7325263G>A" "" "VUS" "" "0000008253" "0" "50" "X" "7269994" "7269994" "dup" "0" "00037" "STS_000022" "g.7269994dup" "" "" "" "NM_000351.4:c.*1692dup" "" "Germline" "" "" "" "" "" "g.7351953dup" "" "VUS" "" "0000008254" "20" "50" "X" "7270694" "7270694" "subst" "0" "00037" "STS_000019" "g.7270694G>A" "" "" "" "NM_000351.4:c.*2392G>A" "" "Germline" "" "" "" "" "" "g.7352653G>A" "" "VUS" "" "0000008255" "20" "50" "X" "7270996" "7270996" "subst" "0" "00037" "STS_000013" "g.7270996A>G" "" "" "" "NM_000351.4:c.*2694A>G" "" "Germline" "" "" "" "" "" "g.7352955A>G" "" "VUS" "" "0000008256" "20" "50" "X" "7272225" "7272225" "subst" "0" "00037" "STS_000016" "g.7272225G>A" "" "" "" "NM_000351.4:c.*3923G>A" "" "Germline" "" "" "" "" "" "g.7354184G>A" "" "VUS" "" "0000010761" "20" "50" "X" "7175869" "7175870" "del" "0" "00037" "STS_000028" "g.7175869_7175870del" "" "" "" "NM_000351.4:c.397+240_397+241del" "" "Germline" "" "" "" "" "" "g.7257828_7257829del" "" "VUS" "" "0000010762" "0" "50" "X" "7193970" "7193970" "del" "0" "00037" "STS_000030" "g.7193970del" "" "" "" "NM_000351.4:c.822-22del" "" "Germline" "" "" "" "" "" "g.7275929del" "" "VUS" "" "0000010763" "0" "50" "X" "7269976" "7269976" "del" "0" "00037" "STS_000026" "g.7269976del" "" "" "" "NM_000351.4:c.*1674del" "" "Germline" "" "" "" "" "" "g.7351935del" "" "VUS" "" "0000437572" "0" "99" "X" "7137472" "7272682" "del" "0" "00125" "STS_000046" "g.(?_7137472)_(7272682_?)del" "" "{PMID:Yen 1987:3032454}" "" "complete gene deletion" "" "Unknown" "" "" "0" "" "" "g.(?_7219431)_(7354641_?)del" "" "pathogenic" "" "0000437573" "0" "99" "X" "7137472" "7272682" "del" "0" "00125" "STS_000046" "g.(?_7137472)_(7272682_?)del" "" "{PMID:Bonifas 1987:3480541}" "" "complete gene deletion" "" "Unknown" "" "" "0" "" "" "g.(?_7219431)_(7354641_?)del" "" "pathogenic" "" "0000437574" "0" "99" "X" "7137472" "7272682" "del" "0" "00125" "STS_000046" "g.(?_7137472)_(7272682_?)del" "" "{PMID:Conary 1987:3034252}" "" "complete gene deletion" "" "Unknown" "" "" "0" "" "" "g.(?_7219431)_(7354641_?)del" "" "pathogenic" "" "0000437575" "0" "99" "X" "7137472" "7272682" "del" "0" "00125" "STS_000046" "g.(?_7137472)_(7272682_?)del" "" "{PMID:Gillard 1987:2884621}" "" "complete gene deletion" "" "Germline" "" "" "0" "" "" "g.(?_7219431)_(7354641_?)del" "" "pathogenic" "" "0000437578" "0" "99" "X" "7137472" "7272682" "del" "0" "00125" "STS_000046" "g.(?_7137472)_(7272682_?)del" "" "{PMID:Ballabio 1989:3480263}" "" "complete gene deletion" "" "Unknown" "" "" "0" "" "" "g.(?_7219431)_(7354641_?)del" "" "pathogenic" "" "0000437579" "0" "99" "X" "7137472" "7272682" "del" "0" "00125" "STS_000046" "g.(?_7137472)_(7272682_?)del" "" "{PMID:Shapiro 1989:2813406}" "" "complete gene deletion" "" "Unknown" "" "" "0" "" "" "g.(?_7219431)_(7354641_?)del" "" "pathogenic" "" "0000438185" "0" "99" "X" "7143249" "7143256" ";" "0" "00125" "STS_000047" "g.[7143249_7143256dup;7143264_7183320del]" "" "{PMID:Shapiro 1989:2813406}" "" "intragenic exon 2-5 deletion" "" "Unknown" "" "" "0" "" "" "g.[7225208_7225215dup;7225223_7281467del]" "" "pathogenic" "" "0000438214" "0" "99" "X" "7223150" "7223150" "subst" "0" "00125" "STS_000048" "g.7223150C>T" "" "{PMID:Basler 1992:1539590}" "" "1226 TCG>TTG" "complete lack of STS activity" "Unknown" "" "" "0" "" "" "g.7305109C>T" "" "pathogenic" "" "0000438215" "0" "99" "X" "7243397" "7243397" "subst" "0" "00125" "STS_000049" "g.7243397T>A" "" "{PMID:Basler 1992:1539590}" "" "1320 TGG>AGG" "complete lack of STS activity" "Unknown" "" "" "0" "" "" "g.7325356T>A" "" "pathogenic" "" "0000438216" "0" "99" "X" "7252107" "7252107" "subst" "0" "00125" "STS_000050" "g.7252107G>A" "" "{PMID:Basler 1992:1539590}" "" "1543 TGC>TAC" "complete lack of STS activity" "Unknown" "" "" "0" "" "" "g.7334066G>A" "" "pathogenic" "" "0000438217" "0" "99" "X" "7235838" "7425134" "del" "0" "00125" "STS_000051" "g.7235838_7425134del" "" "{PMID:Bernatowicz 1992:1639422}" "" "partial deletion intron 7 and 3\' end gene" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.7317797_7507093del" "" "pathogenic" "" "0000438329" "21" "99" "X" "7268229" "7268229" "subst" "0" "00125" "STS_000052" "g.7268229A>C" "" "{PMID:Sugawara 2000:10679952}" "" "NM_000351.4:c.1679A>C" "" "Germline" "" "" "0" "" "" "g.7350188A>C" "" "pathogenic" "" "0000438331" "0" "99" "X" "7137472" "7272682" "del" "0" "00125" "STS_000046" "g.(?_7137472)_(7272682_?)del" "" "{PMID:Sugawara 1993:8186420}" "" "complete gene deletion" "" "Unknown" "" "" "0" "" "" "g.(?_7219431)_(7354641_?)del" "" "pathogenic" "" "0000438333" "0" "99" "X" "7243398" "7243398" "subst" "0" "00125" "STS_000053" "g.7243398G>C" "" "{PMID:Alperin 1997:9252398}" "" "1336 G>C, 372 Trp>Pro" "lack of STS enzymatic activity" "Unknown" "" "" "0" "" "" "g.7325357G>C" "" "pathogenic" "" "0000438334" "0" "99" "X" "7252101" "7252101" "subst" "0" "00125" "STS_000054" "g.7252101A>G" "" "{PMID:Alperin 1997:9252398}" "" "1552 A>G" "lack of STS enzymatic activity" "Unknown" "" "" "0" "" "" "g.7334060A>G" "" "pathogenic" "" "0000438337" "0" "99" "X" "7243540" "7243540" "subst" "0" "00125" "STS_000055" "g.7243540G>T" "" "{PMID:Alperin 1997:9252398}" "" "NM_000351.4:c.1256+1G>T" "lack of STS enzymatic activity" "Unknown" "" "" "0" "" "" "g.7325499G>T" "" "pathogenic" "" "0000438340" "0" "99" "X" "7137472" "7272682" "del" "0" "00125" "STS_000046" "g.(?_7137472)_(7272682_?)del" "" "{PMID:Morita 1997:9242515}" "" "complete gene deletion" "" "Unknown" "" "" "0" "" "" "g.(?_7219431)_(7354641_?)del" "" "pathogenic" "" "0000438342" "0" "99" "X" "7223158" "7223158" "subst" "0" "00125" "STS_000056" "g.7223158G>T" "" "{PMID:Morita 1997:9242515}" "" "G>T 1236" "" "Unknown" "" "" "0" "" "" "g.7305117G>T" "" "pathogenic" "" "0000438344" "20" "99" "X" "7243421" "7243421" "subst" "0" "00125" "STS_000057" "g.7243421G>C" "" "{PMID:Oyama 2000:10844566}" "" "G1344C" "lack of STS enzymatic activity" "Germline" "" "" "0" "" "" "g.7325380G>C" "" "pathogenic" "" "0000438345" "20" "99" "X" "7243448" "7243448" "subst" "0" "00125" "STS_000058" "g.7243448C>T" "" "{PMID:Oyama 2000:10844566}" "" "C1371T" "lack of STS enzymatic activity" "Germline" "" "" "0" "" "" "g.7325407C>T" "" "pathogenic" "" "0000438346" "20" "99" "X" "7063293" "7177814" "del" "0" "00125" "STS_000059" "g.(?_7063293)_(7177814_7193991)del" "" "{PMID:Valdes-Flores 2001:11231321}" "" "exon 1-5 deletion" "lack of STS enzymatic activity" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000438347" "0" "99" "X" "7252131" "7252131" "subst" "0" "00125" "STS_000060" "g.7252131G>A" "" "{PMID:Valdes-Flores 2001:11411918}" "" "1567G>A, Arg432His" "lack of STS enzymatic activity" "De novo" "" "" "0" "" "" "g.7334090G>A" "" "pathogenic" "" "0000438350" "21" "99" "X" "7223174" "7223176" "del" "0" "00125" "STS_000061" "g.7223174_7223176del" "" "{PMID:Valdes-Flores 2001:11676848}" "" "AAGdel1252" "lack of STS enzymatic activity" "Germline" "" "" "0" "" "" "g.7305133_7305135del" "" "pathogenic" "" "0000438351" "21" "99" "X" "7252130" "7252130" "subst" "0" "00125" "STS_000062" "g.7252130C>T" "" "{PMID:Gonzalez-Huerta 2003:12864806}" "" "1506 C>T, Arg432Cys" "lack of STS enzymatic activity" "Germline" "" "" "0" "" "" "g.7334089C>T" "" "pathogenic" "" "0000438352" "21" "99" "X" "7177486" "7177486" "subst" "5.59679E-6" "00125" "STS_000063" "g.7177486C>T" "" "{PMID:Liao 2007:17657246}" "" "NM_000351.4:c.494C>T" "lack of STS enzymatic activity, includes heterozygous p.Arg501* FLG mutation" "Germline" "yes" "" "0" "" "" "g.7259445C>T" "" "pathogenic" "" "0000438356" "21" "99" "X" "7243495" "7243496" "dup" "0" "00125" "STS_000064" "g.7243495_7243496dup" "" "{PMID:Murtaza 2014:24480088}" "" "c.1213_1214insTC" "" "Germline" "" "" "0" "" "" "g.7325454_7325455dup" "" "pathogenic" "" "0000438357" "0" "99" "X" "7137472" "7272682" "del" "0" "00125" "STS_000046" "g.(?_7137472)_(7272682_?)del" "" "{PMID:Murtaza 2014:24480088}" "" "complete gene deletion" "Female homozygous gene deletion included in family D2" "Germline" "yes" "" "0" "" "" "g.(?_7219431)_(7354641_?)del" "" "pathogenic" "" "0000438358" "0" "99" "X" "7175398" "7175398" "subst" "0" "00125" "STS_000044" "g.7175398C>T" "" "{PMID:Winge 2011:21530180}" "" "NM_000351.4:c.268C>T" "" "Unknown" "" "" "0" "" "" "g.7257357C>T" "" "pathogenic" "" "0000438359" "21" "99" "X" "7177521" "7177524" "del" "0" "00125" "STS_000065" "g.7177521_7177524delinsAG" "" "{PMID:Takeichi 2015:26169345}" "" "" "" "Germline" "" "" "0" "" "" "g.7259480_7259483delinsAG" "" "pathogenic" "" "0000438360" "0" "99" "X" "7175391" "7175391" "subst" "0" "00125" "STS_000066" "g.7175391C>G" "" "{PMID:del Refugio Rivera Vega 2015:26421812}" "" "NM_000351.4:c.261C>G" "lack of STS enzymatic activity" "Unknown" "" "" "0" "" "" "g.7257350C>G" "" "pathogenic" "" "0000438370" "20" "97" "X" "7177444" "7177444" "subst" "0" "00125" "STS_000067" "g.7177444C>G" "" "{PMID:Diociaiuti 2016:26762237}" "" "NM_000351.4:c.452C>G" "" "Germline" "" "" "0" "" "" "g.7259403C>G" "" "likely pathogenic" "" "0000438371" "20" "99" "X" "7223203" "7223203" "subst" "0" "00125" "STS_000068" "g.7223203G>A" "" "{PMID:Diociaiuti 2016:26762237}" "" "NM_000351.4:c.1075G>A" "" "Germline" "" "" "0" "" "" "g.7305162G>A" "" "pathogenic" "" "0000438372" "20" "99" "X" "7223203" "7223203" "subst" "0" "00125" "STS_000068" "g.7223203G>A" "" "{PMID:Diociaiuti 2016:26762237}" "" "NM_000351.4:c.1075G>A" "" "Germline" "" "" "0" "" "" "g.7305162G>A" "" "pathogenic" "" "0000438387" "0" "99" "X" "7137472" "7272682" "del" "0" "00125" "STS_000046" "g.(?_7137472)_(7272682_?)del" "" "{PMID:Diociaiuti 2016:26762237}" "" "" "" "Unknown" "" "" "0" "" "" "g.(?_7219431)_(7354641_?)del" "" "pathogenic" "" "0000438388" "20" "97" "X" "7223177" "7223177" "subst" "0" "00125" "STS_000069" "g.7223177T>G" "" "{PMID:Oyama 2016:26387488}" "" "NM_000351.4:c.1049T>G" "" "Germline" "" "" "0" "" "" "g.7305136T>G" "" "likely pathogenic" "" "0000438389" "20" "99" "X" "7223203" "7223203" "subst" "0" "00125" "STS_000068" "g.7223203G>A" "" "{PMID:Oyama 2016:26387488}" "" "NM_000351.4:c.1075G>A" "" "Germline" "" "" "0" "" "" "g.7305162G>A" "" "pathogenic" "" "0000438390" "0" "97" "X" "7243382" "7243382" "subst" "0" "00125" "STS_000070" "g.7243382G>A" "" "{PMID:Wei 2011:22216297}" "" "NM_000351.4:c.1099G>A" "" "Unknown" "" "" "0" "" "" "g.7325341G>A" "" "likely pathogenic" "" "0000438391" "21" "97" "X" "7267943" "7267943" "subst" "0" "00125" "STS_000071" "g.7267943A>G" "" "{PMID:Trevisson 2015:25726327}" "" "NM_000351.4:c.1393A>G" "Also maternally inherited deletion of 518 kb affecting the 5\' region of the KAL1 gene" "Germline" "" "" "0" "" "" "g.7349902A>G" "" "likely pathogenic" "" "0000438394" "21" "97" "X" "7268229" "7268229" "subst" "0" "00125" "STS_000072" "g.7268229A>G" "" "{PMID:Goodwin 2016:26731259}" "" "NM_000351.4:c.1679A>G" "Also having GATA3 de novo pathogenic mutation c.192C>A; p.(Tyr64*)" "Germline" "" "" "0" "" "" "g.7350188A>G" "" "likely pathogenic" "" "0000438397" "0" "97" "X" "7193991" "7193991" "subst" "0" "00125" "STS_000073" "g.7193991G>A" "" "{PMID:Retterer 2016:26633542}" "" "NM_000351.4:c.822-1G>A" "" "Unknown" "" "" "0" "" "" "g.7275950G>A" "" "likely pathogenic" "" "0000438401" "0" "97" "X" "1" "4294967295" "ins" "0" "00125" "STS_000074" "g.?_?ins(?_7103282)_(7223650_?)" "" "{PMID:Bruno 2011:21850686}" "" "hg18 (7113282-7233650)x2" "0.12Mb duplication ex1-6 (NM_000351.4)" "Unknown" "" "" "0" "" "" "g.?_?ins(?_7185241)_(7305609_?)" "" "likely pathogenic" "" "0000438402" "0" "99" "X" "7166270" "7202874" "del" "0" "00125" "STS_000075" "g.(?_7166270)_(7202874_?)del" "" "{PMID:Bruno 2011:21850686}" "" "hg18 7176270-7212874del" "intragenic 37kb deletion ex2-6 (NM_000351.4)" "Unknown" "" "" "0" "" "" "g.(?_7248229)_(7284833_?)del" "" "pathogenic" "" "0000438411" "3" "99" "X" "7137472" "7272682" "del" "0" "00125" "STS_000046" "g.(?_7137472)_(7272682_?)del" "" "{PMID:Nagtzaam 2012:21985695}" "" "1.6 Mb interstitial deletion" "Female patient homozygous for STS deletion" "Germline" "yes" "" "0" "" "" "g.(?_7219431)_(7354641_?)del" "" "pathogenic" "" "0000438415" "0" "99" "X" "7137472" "7272682" "del" "0" "00125" "STS_000046" "g.(?_7137472)_(7272682_?)del" "" "{PMID:Saeki 1998:9764155}" "" "complete gene deletion" "" "Unknown" "" "" "0" "" "" "g.(?_7219431)_(7354641_?)del" "" "pathogenic" "" "0000438425" "0" "99" "X" "7223086" "7272684" "del" "0" "00125" "STS_000076" "g.(7194129_7223086)_(7272684_?)del" "" "{PMID:Abdel-Hamid 2016:27192889}" "" "partial deletion STS exon 7-10" "Patient also has homozygous ASPM mutation c.2936+1G>A" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000438426" "0" "99" "X" "7137472" "7272682" "del" "0" "00125" "STS_000046" "g.(?_7137472)_(7272682_?)del" "" "{PMID:Canueta 2010:20236202}" "" "complete gene deletion" "" "Unknown" "" "" "0" "" "" "g.(?_7219431)_(7354641_?)del" "" "pathogenic" "" "0000438428" "0" "99" "X" "7252130" "7252130" "subst" "0" "00125" "STS_000062" "g.7252130C>T" "" "{PMID:Idkowiak 2016:27003302}" "" "NM_000351.4:c.1360C>T" "" "Unknown" "" "" "0" "" "" "g.7334089C>T" "" "pathogenic" "" "0000438430" "0" "99" "X" "7194130" "7243380" "del" "0" "00125" "STS_000077" "g.7194130_7243380del" "" "{PMID:Idkowiak 2016:27003302}" "" "del ex7" "" "Unknown" "" "" "0" "" "" "g.7276089_7325339del" "" "pathogenic" "" "0000438432" "0" "99" "X" "7137472" "7272682" "del" "0" "00125" "STS_000046" "g.(?_7137472)_(7272682_?)del" "" "{PMID:Idkowiak 2016:27003302}" "" "complete STS and HDHD1A gene deletion" "" "Unknown" "" "" "0" "" "" "g.(?_7219431)_(7354641_?)del" "" "pathogenic" "" "0000443910" "21" "99" "X" "7175314" "7175314" "subst" "0" "00125" "STS_000078" "g.7175314G>A" "" "{PMID:Ohyama 2019:30221377}" "" "NM_000351.4:c.184G>A" "lack of STS enzymatic activity" "Germline" "" "" "0" "" "" "g.7257273G>A" "" "pathogenic" "" "0000443911" "20" "97" "X" "7175555" "7175555" "subst" "0" "00125" "STS_000079" "g.7175555C>T" "" "{PMID:Diociaiuti 2018:29672931}" "" "NM_000351.4:c.323C>T" "" "Germline" "" "" "0" "" "" "g.7257514C>T" "" "likely pathogenic" "" "0000443912" "20" "97" "X" "7223158" "7223158" "subst" "0" "00125" "STS_000080" "g.7223158G>A" "" "{PMID:Diociaiuti 2018:29672931}" "" "NM_000351.4:c.1030G>A" "" "Germline" "" "" "0" "" "" "g.7305117G>A" "" "likely pathogenic" "" "0000443913" "20" "97" "X" "7177444" "7177444" "subst" "0" "00125" "STS_000067" "g.7177444C>G" "" "{PMID:Diociaiuti 2018:29672931}" "" "NM_000351.4:c.452C>G" "" "Germline" "" "" "0" "" "" "g.7259403C>G" "" "likely pathogenic" "" "0000443914" "20" "97" "X" "7223203" "7223203" "subst" "0" "00125" "STS_000068" "g.7223203G>A" "" "{PMID:Diociaiuti 2018:29672931}" "" "NM_000351.4:c.1075G>A" "" "Germline" "" "" "0" "" "" "g.7305162G>A" "" "pathogenic" "" "0000443915" "0" "99" "X" "7137472" "7272682" "del" "0" "00125" "STS_000046" "g.(?_7137472)_(7272682_?)del" "" "{PMID:Diociaiuti 2018:29672931}" "" "complete gene deletion" "" "Unknown" "" "" "0" "" "" "g.(?_7219431)_(7354641_?)del" "" "pathogenic" "" "0000443916" "20" "99" "X" "7194130" "7243380" "del" "0" "00125" "STS_000077" "g.7194130_7243380del" "" "{PMID:Diociaiuti 2018:29672931}" "" "del ex7" "" "Germline" "" "" "0" "" "" "g.7276089_7325339del" "" "pathogenic" "" "0000630867" "0" "55" "X" "7268144" "7268144" "subst" "2.24383E-5" "01164" "STS_000095" "g.7268144G>A" "" "" "" "NM_000351.4:c.1594G>A" "ACMG grading: PM2\r\nExisting pregnancy, unclear syndrome in family: in a total of 3 sons from 2 previous partnerships; suspected Sjögren-Larsson syndrome, epilepsy, ichthyosis and developmental delay" "Germline" "" "rs145645949" "0" "" "" "g.7350103G>A" "" "VUS" "ACMG" "0000759902" "3" "99" "X" "7243399" "7243399" "subst" "0" "00125" "STS_000101" "g.7243399G>A" "" "{PMID:Diociaiuti 2019:30834456}" "" "NM_000351.4:c.1116G>A" "deficient STS enzymatic activity" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000759904" "0" "77" "X" "7252100" "7252100" "subst" "0" "00125" "STS_000102" "g.7252100C>T" "" "{PMID:Borská 2019:31046801}" "" "NM_000351.4:c.1330C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000759905" "0" "77" "X" "7252108" "7252108" "subst" "0" "00125" "STS_000103" "g.7252108C>G" "" "{PMID:Borská 2019:31046801}" "" "NM_000351.4:c.1338C>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000759907" "3" "99" "X" "7175519" "7175519" "subst" "0" "00125" "STS_000104" "g.7175519G>A" "" "{PMID:Afzal 2020:32005174}" "" "NM_000351.4:c.287G>A" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000787967" "20" "99" "X" "7171331" "7171331" "subst" "0" "00125" "STS_000043" "g.7171331G>A" "" "Nagtzaam et al, submitted" "" "NM_000351.4:c.106G>A" "No STS enzymatic activity in leucocytes" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000787996" "0" "97" "X" "7193991" "7194129" "del" "0" "00125" "STS_000105" "g.(7177814_7193991)_(7194129_7223086)del" "" "Nagtzaam et al, submitted" "" "exon 6 deletion" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000787997" "21" "77" "X" "7243379" "7252149" "dup" "0" "00125" "STS_000106" "g.(7223225_7243379)_(7252149_7267928)dup" "" "Nagtzaam et al, submitted" "" "" "exon 8-9 duplication" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000787998" "21" "77" "X" "7267923" "7267923" "subst" "0" "00125" "STS_000107" "g.7267923C>G" "" "Nagtzaam et al, submitted" "" "NM_000351.4:c.1379-6C>G" "No STS enzymatic activity" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000788016" "21" "77" "X" "7175386" "7175386" "subst" "5.62158E-6" "00125" "STS_000108" "g.7175386C>T" "" "Nagtzaam et al, submitted" "" "NM_000351.4:c.256C>T" "Missense variant published as pathogenic at equivalent position in paralogue sulfatase gene GALNS" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000788017" "0" "77" "X" "7175560" "7175560" "subst" "0" "00125" "STS_000109" "g.7175560G>A" "" "Nagtzaam et al, submitted" "" "NM_000351.4:c.328G>A" "Missense variants published as pathogenic at equivalent position in paralogue sulfatase gene GALNS" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000788018" "0" "77" "X" "7243383" "7243383" "subst" "0" "00125" "STS_000110" "g.7243383G>C" "" "Nagtzaam et al, submitted" "" "NM_000351.4:c.1100G>C" "Missense variant published as pathogenic at equivalent position in paralogue sulfatase genes ARSL" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000788019" "0" "99" "X" "7243388" "7243388" "subst" "0" "00125" "STS_000088" "g.7243388G>C" "" "Nagtzaam et al, submitted" "" "NM_000351.4:c.1105G>C" "Detemined cholesterol sulfate in plasma was >10x elevated" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000788020" "21" "99" "X" "7252117" "7252117" "subst" "0" "00125" "STS_000111" "g.7252117C>A" "" "Nagtzaam et al, submitted" "" "NM_000351.4:c.1347C>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000788021" "0" "99" "X" "7177641" "7177642" "delins" "0" "00125" "STS_000112" "g.7177641_7177642delinsG" "" "Nagtzaam et al, submitted" "" "NM_000351.4:c.649_650delinsG" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000788022" "0" "99" "X" "7177641" "7177642" "delins" "0" "00125" "STS_000112" "g.7177641_7177642delinsG" "" "Nagtzaam et al, submitted" "" "NM_000351.4:c.649_650delinsG" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000788023" "0" "99" "X" "7177641" "7177642" "delins" "0" "00125" "STS_000112" "g.7177641_7177642delinsG" "" "Nagtzaam et al, submitted" "" "NM_000351.4:c.649_650delinsG" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000788024" "21" "33" "X" "7243536" "7243536" "subst" "0.000936813" "00125" "STS_000039" "g.7243536A>G" "" "Nagtzaam et al, submitted" "" "NM_000351.4:c.1253A>G" "Normal STS enzymatic activity in blood" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000788027" "0" "99" "X" "7137472" "7272682" "del" "0" "00125" "STS_000046" "g.(?_7137472)_(7272682_?)del" "" "Nagtzaam et al, submitted" "" "complete gene deletion" "represents 57 individual patients" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_7219431)_(7354641_?)del" "" "pathogenic (recessive)" "" "0000788028" "0" "99" "X" "7077940" "7272684" "del" "0" "00125" "STS_000113" "g.(7066125_7077940)_(7272684_?)del" "" "Nagtzaam et al, submitted" "" "" "complete gene deletion without HDHD1 (breakpoint between exon 0b and 0c)" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000828495" "0" "50" "X" "5748782" "10477366" "del" "0" "00000" "NLGN4X_000080" "g.5748782_10477366del" "" "{PMID:Perea-Romero 2021:34448047}" "" "chrX, g.5748782_10477366del, arr[GRCh37] Xp22.32p22.2(5748782-10477366)x1, heterozygous | heterozygous" "no gene indicated in publication!" "Germline" "yes" "" "0" "" "" "g.5830745_10559329del" "" "VUS" "ACMG" "0000846733" "21" "90" "X" "6551155" "7982120" "del" "0" "04296" "STS_000124" "g.(?_6551155)_(7982120_?)del" "" "{PMID:Chouk 2022:35883075}" "" "arr[hg38] Xp22.31 (6,633,114–8,064,079)×1" "" "Germline" "yes" "" "0" "1.4 Mb deletion involving STS, PUDP1, VCX, PNPLA4" "" "g.(?_6633114)_(8064079_?)del" "" "pathogenic (recessive)" "" "0000856775" "0" "30" "X" "7175571" "7175571" "subst" "6.71445E-5" "01943" "STS_000118" "g.7175571C>T" "" "" "" "STS(NM_001320750.1):c.360C>T (p.T120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867549" "0" "30" "X" "7175283" "7175283" "subst" "0.000207554" "01943" "STS_000117" "g.7175283G>A" "" "" "" "STS(NM_001320750.1):c.174G>A (p.R58=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867553" "0" "30" "X" "7194007" "7194007" "subst" "4.0357E-5" "01943" "STS_000119" "g.7194007G>A" "" "" "" "STS(NM_001320750.1):c.858G>A (p.P286=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867554" "0" "30" "X" "7223077" "7223077" "subst" "0.00217296" "01943" "STS_000120" "g.7223077T>C" "" "" "" "STS(NM_001320750.1):c.980-10T>C, STS(NM_001320752.2):c.944-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867556" "0" "30" "X" "7243507" "7243507" "subst" "5.60274E-6" "01943" "STS_000121" "g.7243507C>A" "" "" "" "STS(NM_001320750.1):c.1245C>A (p.A415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896351" "0" "10" "X" "7066051" "7066051" "subst" "0.626302" "02327" "STS_000122" "g.7066051A>C" "" "" "" "STS(NM_001320751.2):c.-325A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000896352" "0" "30" "X" "7066051" "7066051" "subst" "0.626302" "02325" "STS_000122" "g.7066051A>C" "" "" "" "STS(NM_001320751.2):c.-325A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896353" "0" "10" "X" "7109083" "7109083" "subst" "0" "02327" "STS_000123" "g.7109083G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000896355" "0" "70" "X" "7175386" "7175386" "subst" "5.62158E-6" "02327" "STS_000108" "g.7175386C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000896356" "0" "70" "X" "7175555" "7175555" "subst" "0" "02327" "STS_000079" "g.7175555C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000900633" "21" "90" "X" "6887519" "7873728" "del" "0" "04296" "STS_000116" "g.(?_6887519)_(7873728_?)del" "" "{PMID:Chouk 2022:35883075}" "" "arr[hg38] Xp22.31 (6,969,478–7,955,687)×1" "986 Kb deletion involving STS, PUDP1, VCX, PNPLA4" "Germline" "" "" "0" "" "" "g.(?_6969478)_(7955687_?)del" "" "pathogenic (recessive)" "" "0000900634" "20" "50" "X" "7175585" "7175597" "del" "0" "00006" "STS_000125" "g.7175585_7175597del" "" "{PMID:Chouk 2022:35883075}" "" "" "variant an artefact; gene deletion gives amplification Y-chromosome STS pseudogene" "Artefact" "" "" "0" "" "" "g.7257544_7257556del" "" "benign (!)" "" "0000900635" "20" "50" "X" "7175585" "7175597" "del" "0" "00006" "STS_000125" "g.7175585_7175597del" "" "{PMID:Chouk 2022:35883075}" "" "" "variant an artefact; gene deletion gives amplification Y-chromosome" "Germline" "" "" "0" "" "" "g.7257544_7257556del" "" "benign (!)" "" "0000900636" "21" "90" "X" "7137472" "7272682" "del" "0" "04296" "STS_000046" "g.(?_7137472)_(7272682_?)del" "" "{PMID:Chouk 2022:35883075}" "" "del STS gene" "" "Germline" "yes" "" "0" "" "" "g.(?_7219431)_(7354641_?)del" "" "pathogenic (recessive)" "" "0000900637" "20" "50" "X" "7175585" "7175597" "del" "0" "00006" "STS_000125" "g.7175585_7175597del" "" "{PMID:Chouk 2022:35883075}" "" "" "variant an artefact; gene deletion gives amplification Y-chromosome" "Artefact" "" "" "0" "" "" "g.7257544_7257556del" "" "benign (!)" "" "0000909255" "0" "90" "X" "7137472" "7272682" "del" "0" "00006" "STS_000046" "g.(?_7137472)_(7272682_?)del" "" "{PMID:Zhang 2022:35929940}" "" "del STS gene" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_7219431)_(7354641_?)del" "" "pathogenic (recessive)" "" "0000915759" "0" "50" "X" "7066108" "7066108" "subst" "0" "02325" "STS_000126" "g.7066108T>A" "" "" "" "STS(NM_001320751.2):c.-268T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915762" "0" "10" "X" "7193987" "7193987" "del" "0" "02325" "STS_000127" "g.7193987del" "" "" "" "STS(NM_000351.7):c.807-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000921449" "0" "90" "X" "0" "0" "" "" "00006" "CLCN5_000000" "g.?" "" "" "" "del ex7-10" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000984852" "0" "50" "X" "7177435" "7177435" "subst" "0" "01804" "HDHD1_000012" "g.7177435G>C" "" "" "" "STS(NM_001320752.2):c.428G>C (p.(Cys143Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984854" "0" "30" "X" "7223077" "7223077" "subst" "0.00217296" "01804" "STS_000120" "g.7223077T>C" "" "" "" "STS(NM_001320750.1):c.980-10T>C, STS(NM_001320752.2):c.944-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006949" "0" "70" "X" "7175630" "7175630" "subst" "0" "02327" "HDHD1_000013" "g.7175630G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001044496" "0" "30" "X" "7137734" "7137734" "subst" "8.43023E-5" "01804" "HDHD1_000014" "g.7137734G>A" "" "" "" "STS(NM_000351.7):c.-5+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044503" "0" "30" "X" "7243441" "7243441" "subst" "0.000386449" "01804" "HDHD1_000015" "g.7243441G>C" "" "" "" "STS(NM_001320752.2):c.1143G>C (p.(Arg381Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044505" "0" "30" "X" "7252023" "7252023" "subst" "1.12098E-5" "01804" "HDHD1_000016" "g.7252023A>G" "" "" "" "STS(NM_001320752.2):c.1242-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001057261" "0" "50" "X" "7175335" "7175335" "subst" "0" "01804" "HDHD1_000017" "g.7175335C>G" "" "" "" "STS(NM_001320752.2):c.190C>G (p.(Leu64Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057262" "0" "50" "X" "7243422" "7243422" "subst" "0" "02327" "HDHD1_000018" "g.7243422G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes STS ## Count = 128 "{{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}}" "0000001776" "00025792" "50" "418" "253" "418" "254" "c.418+253_418+254del" "r.(?)" "p.(=)" "" "0000002762" "00025792" "50" "418" "240" "418" "241" "c.418+240_418+241del" "r.(?)" "p.(=)" "" "0000002763" "00025792" "50" "3411" "0" "3411" "0" "c.*1674del" "r.(=)" "p.?" "" "0000006249" "00025792" "00" "-5" "26859" "-5" "26859" "c.-5+26859T>C" "r.(=)" "p.(=)" "" "0000006250" "00025792" "50" "33" "-312" "33" "-312" "c.33-312C>G" "r.(=)" "p.?" "" "0000006251" "00025792" "50" "842" "214" "842" "214" "c.842+214C>T" "r.(?)" "p.(=)" "" "0000006252" "00025792" "50" "842" "244" "842" "244" "c.842+244T>C" "r.(?)" "p.(=)" "" "0000006253" "00025792" "50" "1118" "-76" "1118" "-76" "c.1118-76G>A" "r.(=)" "p.?" "" "0000006254" "00025792" "50" "4129" "0" "4129" "0" "c.*2392G>A" "r.(=)" "p.?" "" "0000006255" "00025792" "50" "4431" "0" "4431" "0" "c.*2694A>G" "r.(=)" "p.?" "" "0000006256" "00025792" "50" "5660" "0" "5660" "0" "c.*3923G>A" "r.(=)" "p.?" "" "0000008248" "00025792" "00" "-5" "26859" "-5" "26859" "c.-5+26859T>C" "r.(=)" "p.(=)" "" "0000008249" "00025792" "50" "418" "253" "418" "254" "c.418+253_418+254del" "r.(?)" "p.(=)" "" "0000008250" "00025792" "50" "842" "214" "842" "214" "c.842+214C>T" "r.(?)" "p.(=)" "" "0000008251" "00025792" "50" "842" "244" "842" "244" "c.842+244T>C" "r.(?)" "p.(=)" "" "0000008252" "00025792" "50" "1118" "-76" "1118" "-76" "c.1118-76G>A" "r.(=)" "p.?" "" "0000008253" "00025792" "50" "3429" "0" "3429" "0" "c.*1692dup" "r.(=)" "p.?" "" "0000008254" "00025792" "50" "4129" "0" "4129" "0" "c.*2392G>A" "r.(=)" "p.?" "" "0000008255" "00025792" "50" "4431" "0" "4431" "0" "c.*2694A>G" "r.(=)" "p.?" "" "0000008256" "00025792" "50" "5660" "0" "5660" "0" "c.*3923G>A" "r.(=)" "p.?" "" "0000010761" "00025792" "50" "418" "240" "418" "241" "c.418+240_418+241del" "r.(?)" "p.(=)" "" "0000010762" "00025792" "50" "843" "-22" "843" "-22" "c.843-22del" "r.(?)" "p.(=)" "" "0000010763" "00025792" "50" "3411" "0" "3411" "0" "c.*1674del" "r.(=)" "p.?" "" "0000437572" "00025792" "99" "" "0" "" "0" "c.-505_*4380{0}" "r.0" "p.0" "_1_11_" "0000437573" "00025792" "99" "" "0" "" "0" "c.-505_*4380{0}" "r.0" "p.0" "_1_11_" "0000437574" "00025792" "99" "" "0" "" "0" "c.-505_*4380{0}" "r.0" "p.0" "_1_11_" "0000437575" "00025792" "99" "" "0" "" "0" "c.-505_*4380{0}" "r.0" "p.0" "_1_11_" "0000437578" "00025792" "99" "" "0" "" "0" "c.-505_*4380{0}" "r.0" "p.0" "_1_11_" "0000437579" "00025792" "99" "" "0" "" "0" "c.-505_*4380{0}" "r.0" "p.0" "_1_11_" "0000438185" "00025792" "99" "32" "5522" "32" "5529" "c.[32+5522_32+5529dup;32+5537_842+5507del]" "r.?" "p.?" "2i_6i" "0000438214" "00025792" "99" "1043" "0" "1043" "0" "c.1043C>T" "r.(?)" "p.(Ser348Leu)" "" "0000438215" "00025792" "99" "1135" "0" "1135" "0" "c.1135T>A" "r.(?)" "p.(Trp379Arg)" "" "0000438216" "00025792" "99" "1358" "0" "1358" "0" "c.1358G>A" "r.(?)" "p.(Cys453Tyr)" "" "0000438217" "00025792" "99" "" "0" "" "0" "c.1118-7542_*4380{0}" "r.0?" "p.0?" "" "0000438329" "00025792" "99" "1700" "0" "1700" "0" "c.1700A>C" "r.(?)" "p.(Gln567Pro)" "" "0000438331" "00025792" "99" "" "0" "" "0" "c.-505_*4380{0}" "r.0" "p.0" "_1_11_" "0000438333" "00025792" "99" "1136" "0" "1136" "0" "c.1136G>C" "r.(?)" "p.(Trp379Ser)" "" "0000438334" "00025792" "99" "1352" "0" "1352" "0" "c.1352A>G" "r.(?)" "p.(His451Arg)" "" "0000438337" "00025792" "99" "1277" "1" "1277" "1" "c.1277+1G>T" "r.1256_1257ins1256+1_1256+19" "p.?" "" "0000438340" "00025792" "99" "" "0" "" "0" "c.-505_*4380{0}" "r.0" "p.0" "_1_11_" "0000438342" "00025792" "99" "1051" "0" "1051" "0" "c.1051G>T" "r.(?)" "p.(Gly351Ter)" "" "0000438344" "00025792" "99" "1159" "0" "1159" "0" "c.1159G>C" "r.(?)" "p.(Gly387Arg)" "" "0000438345" "00025792" "99" "1186" "0" "1186" "0" "c.1186C>T" "r.(?)" "p.(Gln396Ter)" "" "0000438346" "00025792" "99" "-245" "0" "842" "1" "c.(?_-245)_(842+1_843-1)del" "r.?" "p.?" "_1_5i" "0000438347" "00025792" "99" "1382" "0" "1382" "0" "c.1382G>A" "r.(?)" "p.(Arg461His)" "" "0000438350" "00025792" "99" "1067" "0" "1069" "0" "c.1067_1069del" "r.(?)" "p.(Glu356del)" "" "0000438351" "00025792" "99" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461Cys)" "" "0000438352" "00025792" "99" "515" "0" "515" "0" "c.515C>T" "r.(?)" "p.(Thr172Ile)" "" "0000438356" "00025792" "99" "1233" "0" "1234" "0" "c.1233_1234dup" "r.(?)" "p.(Pro412LeufsTer4)" "" "0000438357" "00025792" "99" "" "0" "" "0" "c.-505_*4380{0}" "r.0" "p.0" "_1_11_" "0000438358" "00025792" "99" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Arg97Ter)" "" "0000438359" "00025792" "99" "550" "0" "553" "0" "c.550_553delinsAG" "r.(?)" "p.(Val184SerfsTer81)" "" "0000438360" "00025792" "99" "282" "0" "282" "0" "c.282C>G" "r.(?)" "p.(Tyr94Ter)" "" "0000438370" "00025792" "97" "473" "0" "473" "0" "c.473C>G" "r.(?)" "p.(Pro158Arg)" "" "0000438371" "00025792" "99" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Gly366Arg)" "" "0000438372" "00025792" "99" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Gly366Arg)" "" "0000438387" "00025792" "99" "" "0" "" "0" "c.-505_*4380{0}" "r.0" "p.0" "_1_11_" "0000438388" "00025792" "97" "1070" "0" "1070" "0" "c.1070T>G" "r.(?)" "p.(Val357Gly)" "" "0000438389" "00025792" "99" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Gly366Arg)" "" "0000438390" "00025792" "97" "1120" "0" "1120" "0" "c.1120G>A" "r.(?)" "p.(Gly374Arg)" "" "0000438391" "00025792" "97" "1414" "0" "1414" "0" "c.1414A>G" "r.(?)" "p.(Lys472Glu)" "" "0000438394" "00025792" "97" "1700" "0" "1700" "0" "c.1700A>G" "r.(?)" "p.(Gln567Arg)" "" "0000438397" "00025792" "97" "843" "-1" "843" "-1" "c.843-1G>A" "r.spl" "p.?" "" "0000438401" "00025792" "97" "-8388608" "0" "8388607" "0" "c.?_?ins[-505_(1117+426_?){2}]" "r.?" "p.?" "_1_7i" "0000438402" "00025792" "99" "0" "0" "0" "0" "c.(32+1_33-4967)_979+8746_980-1)del" "r.?" "p.?" "2i_7i" "0000438411" "00025792" "99" "" "0" "" "0" "c.-505_*4380{0}" "r.0" "p.0" "_1_11_" "0000438415" "00025792" "99" "" "0" "" "0" "c.-505_*4380{0}" "r.0" "p.0" "_1_11_" "0000438425" "00025792" "99" "980" "-1" "6119" "0" "c.(979+1_980-1)_(*4382_?)del" "r.?" "p.?" "6i_10_" "0000438426" "00025792" "99" "" "0" "" "0" "c.-505_*4380{0}" "r.0" "p.0" "_1_11_" "0000438428" "00025792" "99" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461Cys)" "" "0000438430" "00025792" "99" "979" "2" "1118" "0" "c.979+2_1118del" "r.spl" "p.?" "" "0000438432" "00025792" "99" "" "0" "" "0" "c.-505_*4380{0}" "r.0" "p.0" "_1_11_" "0000443910" "00025792" "99" "205" "0" "205" "0" "c.205G>A" "r.(?)" "p.(Gly69Arg)" "" "0000443911" "00025792" "97" "344" "0" "344" "0" "c.344C>T" "r.(?)" "p.(Ser115Leu)" "" "0000443912" "00025792" "97" "1051" "0" "1051" "0" "c.1051G>A" "r.(?)" "p.(Gly351Arg)" "" "0000443913" "00025792" "97" "473" "0" "473" "0" "c.473C>G" "r.(?)" "p.(Pro158Arg)" "" "0000443914" "00025792" "97" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Gly366Arg)" "" "0000443915" "00025792" "99" "" "0" "" "0" "c.-505_*4380{0}" "r.0" "p.0" "_1_11_" "0000443916" "00025792" "99" "979" "2" "1118" "0" "c.979+2_1118del" "r.spl" "p.?" "" "0000630867" "00025792" "55" "1615" "0" "1615" "0" "c.1615G>A" "r.(?)" "p.(Glu539Lys)" "" "0000759902" "00025792" "99" "1137" "0" "1137" "0" "c.1137G>A" "r.(?)" "p.(Trp379Ter)" "" "0000759904" "00025792" "77" "1351" "0" "1351" "0" "c.1351C>T" "r.(?)" "p.(His451Tyr)" "" "0000759905" "00025792" "77" "1359" "0" "1359" "0" "c.1359C>G" "r.(?)" "p.(Cys453Trp)" "" "0000759907" "00025792" "99" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Trp103Ter)" "" "0000787967" "00025792" "99" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Asp43Asn)" "" "0000787996" "00025792" "97" "843" "-1" "979" "1" "c.(842+1_843-1)_(979+1_980-1)del" "r.(?)" "p.(Asn275Alafs*8)" "5i_6i" "0000787997" "00025792" "77" "1118" "-1" "1420" "1" "c.(1117+1_1118-1)_(1420+1_1421-1)dup" "r.(?)" "p.?" "7i_9i" "0000787998" "00025792" "77" "1400" "-6" "1400" "-6" "c.1400-6C>G" "r.spl?" "p.?" "" "0000788016" "00025792" "77" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Arg93Trp)" "" "0000788017" "00025792" "77" "349" "0" "349" "0" "c.349G>A" "r.(?)" "p.(Gly117Arg)" "" "0000788018" "00025792" "77" "1121" "0" "1121" "0" "c.1121G>C" "r.(?)" "p.(Gly374Ala)" "" "0000788019" "00025792" "99" "1126" "0" "1126" "0" "c.1126G>C" "r.(?)" "p.(Ala376Pro)" "" "0000788020" "00025792" "99" "1368" "0" "1368" "0" "c.1368C>A" "r.(?)" "p.(Tyr456Ter)" "" "0000788021" "00025792" "99" "670" "0" "671" "0" "c.670_671delinsG" "r.(?)" "p.(Phe224AlafsTer6)" "" "0000788022" "00025792" "99" "670" "0" "671" "0" "c.670_671delinsG" "r.(?)" "p.(Phe224AlafsTer6)" "" "0000788023" "00025792" "99" "670" "0" "671" "0" "c.670_671delinsG" "r.(?)" "p.(Phe224AlafsTer6)" "" "0000788024" "00025792" "33" "1274" "0" "1274" "0" "c.1274A>G" "r.(?)" "p.(Asp425Gly)" "" "0000788027" "00025792" "99" "" "0" "" "0" "c.-505_*4380{0}" "r.0" "p.0" "_1_11_" "0000788028" "00025792" "99" "-251" "-1" "6119" "0" "c.(-252+1_-251-1)_(*4382_?)del" "r.0?" "p.0?" "_0c_10_" "0000828495" "00025792" "50" "" "0" "" "0" "c.-505_*4380{0}" "r.0" "p.0" "_1_11_" "0000846733" "00025792" "90" "0" "0" "0" "0" "c.-505_*4380{0}" "r.0" "p.0" "_1_11_" "0000856775" "00025792" "30" "324" "0" "324" "0" "c.324C>T" "r.(?)" "p.(Thr108=)" "" "0000867549" "00025792" "30" "138" "0" "138" "0" "c.138G>A" "r.(?)" "p.(Arg46=)" "" "0000867553" "00025792" "30" "822" "0" "822" "0" "c.822G>A" "r.(?)" "p.(Pro274=)" "" "0000867554" "00025792" "30" "944" "-10" "944" "-10" "c.944-10T>C" "r.(=)" "p.(=)" "" "0000867556" "00025792" "30" "1209" "0" "1209" "0" "c.1209C>A" "r.(?)" "p.(Ala403=)" "" "0000896351" "00025792" "10" "-207" "0" "-207" "0" "c.-207A>C" "r.(?)" "p.(=)" "" "0000896352" "00025792" "30" "-207" "0" "-207" "0" "c.-207A>C" "r.(?)" "p.(=)" "" "0000896353" "00025792" "10" "-5" "34" "-5" "34" "c.-5+34G>A" "r.(=)" "p.(=)" "" "0000896355" "00025792" "70" "241" "0" "241" "0" "c.241C>T" "r.(?)" "p.(Arg81Trp)" "" "0000896356" "00025792" "70" "308" "0" "308" "0" "c.308C>T" "r.(?)" "p.(Ser103Leu)" "" "0000900633" "00025792" "90" "0" "0" "0" "0" "c.-245_*4380{0}" "r.0" "p.0" "_1_10_" "0000900634" "00025792" "50" "374" "0" "386" "0" "c.374_386del" "r.(?)" "p.(Phe125Ter)" "" "0000900635" "00025792" "50" "374" "0" "386" "0" "c.374_386del" "r.(?)" "p.(Phe125Ter)" "" "0000900636" "00025792" "90" "0" "0" "0" "0" "c.-505_*4380{0}" "r.0" "p.0" "_1_11_" "0000900637" "00025792" "50" "374" "0" "386" "0" "c.374_386del" "r.(?)" "p.(Phe125Ter)" "" "0000909255" "00025792" "90" "0" "0" "0" "0" "c.-505_*4380{0}" "r.0" "p.0" "_1_11_" "0000915759" "00025792" "50" "-150" "0" "-150" "0" "c.-150T>A" "r.(?)" "p.(=)" "" "0000915762" "00025792" "10" "807" "-5" "807" "-5" "c.807-5del" "r.spl?" "p.?" "" "0000921449" "00025792" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000984852" "00025792" "50" "428" "0" "428" "0" "c.428G>C" "r.(?)" "p.(Cys143Ser)" "" "0000984854" "00025792" "30" "944" "-10" "944" "-10" "c.944-10T>C" "r.(=)" "p.(=)" "" "0001006949" "00025792" "70" "382" "1" "382" "1" "c.382+1G>T" "r.spl?" "p.?" "" "0001044496" "00025792" "30" "-5" "28685" "-5" "28685" "c.-5+28685G>A" "r.(=)" "p.(=)" "" "0001044503" "00025792" "30" "1143" "0" "1143" "0" "c.1143G>C" "r.(?)" "p.(Arg381Ser)" "" "0001044505" "00025792" "30" "1242" "-4" "1242" "-4" "c.1242-4A>G" "r.spl?" "p.?" "" "0001057261" "00025792" "50" "190" "0" "190" "0" "c.190C>G" "r.(?)" "p.(Leu64Val)" "" "0001057262" "00025792" "50" "1124" "0" "1124" "0" "c.1124G>A" "r.(?)" "p.(Gly375Asp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 108 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001776" "0000000209" "0000002762" "0000000209" "0000002763" "0000000209" "0000006249" "0000000209" "0000006250" "0000000209" "0000006251" "0000000209" "0000006252" "0000000209" "0000006253" "0000000209" "0000006254" "0000000209" "0000006255" "0000000209" "0000006256" "0000000210" "0000008248" "0000000210" "0000008249" "0000000210" "0000008250" "0000000210" "0000008251" "0000000210" "0000008252" "0000000210" "0000008253" "0000000210" "0000008254" "0000000210" "0000008255" "0000000210" "0000008256" "0000000210" "0000010761" "0000000210" "0000010762" "0000000210" "0000010763" "0000207864" "0000437572" "0000207865" "0000437573" "0000207866" "0000437574" "0000207867" "0000437575" "0000207869" "0000437578" "0000207870" "0000437579" "0000207871" "0000438185" "0000208378" "0000438214" "0000208379" "0000438215" "0000208380" "0000438216" "0000208383" "0000438217" "0000208464" "0000438329" "0000208466" "0000438331" "0000208468" "0000438333" "0000208469" "0000438334" "0000208470" "0000438337" "0000208473" "0000438340" "0000208475" "0000438342" "0000208477" "0000438344" "0000208478" "0000438345" "0000208479" "0000438346" "0000208480" "0000438347" "0000208483" "0000438350" "0000208484" "0000438351" "0000208485" "0000438352" "0000208488" "0000438356" "0000208489" "0000438357" "0000208490" "0000438358" "0000208491" "0000438359" "0000208492" "0000438360" "0000208501" "0000438370" "0000208502" "0000438371" "0000208503" "0000438372" "0000208513" "0000438387" "0000208514" "0000438388" "0000208515" "0000438389" "0000208516" "0000438390" "0000208518" "0000438391" "0000208519" "0000438394" "0000208521" "0000438397" "0000208523" "0000438401" "0000208525" "0000438402" "0000208532" "0000438411" "0000208536" "0000438415" "0000208546" "0000438425" "0000208547" "0000438426" "0000208548" "0000438428" "0000208549" "0000438430" "0000208551" "0000438432" "0000212263" "0000443910" "0000212264" "0000443911" "0000212265" "0000443912" "0000212266" "0000443913" "0000212267" "0000443914" "0000212268" "0000443915" "0000212269" "0000443916" "0000276735" "0000630867" "0000360170" "0000759902" "0000360173" "0000759904" "0000360174" "0000759905" "0000360175" "0000759907" "0000376378" "0000787967" "0000376398" "0000787996" "0000376399" "0000787997" "0000376400" "0000787998" "0000376413" "0000788016" "0000376414" "0000788017" "0000376415" "0000788018" "0000376416" "0000788019" "0000376417" "0000788020" "0000376418" "0000788021" "0000376419" "0000788022" "0000376420" "0000788023" "0000376421" "0000788024" "0000376422" "0000788027" "0000376423" "0000788028" "0000396813" "0000828495" "0000409553" "0000846733" "0000409553" "0000900634" "0000424558" "0000900633" "0000424558" "0000900635" "0000424559" "0000900636" "0000424559" "0000900637" "0000429660" "0000909255" "0000435391" "0000921449"