### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TRIM32) # 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}}" "TRIM32" "tripartite motif containing 32" "9" "q33.1" "unknown" "LRG_211" "UD_132084440248" "" "https://www.dmd.nl/trim32_home.html" "" "1" "16380" "22954" "602290" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/TRIM32_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2002-08-07 00:00:00" "00006" "2020-11-26 20:51:43" "00006" "2026-05-12 09:57:00" ## 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}}" "00021818" "TRIM32" "transcript variant 1" "001" "NM_012210.3" "" "NP_036342.2" "" "" "" "-161" "3558" "1962" "119449581" "119463579" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{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" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "00939" "LGMDR8;LGMD2H" "dystrophy, muscular, limb-girdle, autosomal recessive, type 8 (LGMD2H)" "AR" "254110" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-01-12 20:52:24" "04212" "BBS" "Bardet-Biedl syndrome (BBS)" "" "" "" "" "" "00006" "2015-02-27 19:01:43" "" "" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05040" "BBS11" "Bardet-Biedl syndrome?, type 11 (BBS-11)" "AR" "615988" "" "" "" "00000" "2015-09-23 11:00:40" "00006" "2021-12-10 21:51:32" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "TRIM32" "00139" "TRIM32" "00939" "TRIM32" "05040" ## Individuals ## Do not remove or alter this header ## ## Count = 155 "{{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}}" "00208554" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00208793" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00213604" "" "" "" "41" "" "00006" "{PMID:Frosk 2002:11822024}, {PMID:Frosk 2005:15580560}" "41 patients Hutterite families Schmiede-, Darius- and Lehrerleut; common ancestor" "" "" "" "" "0" "" "" "" "" "00213605" "" "" "" "2" "" "00006" "{PMID:Schoser 2005:15786463}, {PMID:Jerusalem 1973:4269389}" "Hutterite, South Dakota; 2 brothers; founder mutation" "M" "" "United States" "" "0" "" "" "" "" "00213606" "" "" "" "2" "" "00006" "{PMID:Schoser 2005:15786463}, {PMID:Muller-Felber 1999:10399877}" "2 affected brothers; common ancestor" "M" "" "Germany" "" "0" "" "" "" "" "00213607" "" "" "" "4" "" "00006" "{PMID:Chiang 2006:16606853}, {OMIM602290:0002}" "4 affecteds (2M, 2F)" "" "" "Israel" "" "0" "" "" "Bedouin Arab" "" "00213608" "" "" "" "1" "" "00006" "{PMID:Saccone 2007:17994549}" "" "M" "" "Italy" "" "0" "" "" "" "" "00213609" "" "" "" "1" "" "00006" "{PMID:Saccone 2007:17994549}" "" "M" "" "Italy" ">15y" "0" "" "" "" "" "00213610" "" "" "" "1" "" "00006" "{PMID:Saccone 2007:17994549}" "" "F" "" "Croatia (Hrvatska)" ">44y" "0" "" "" "" "" "00213611" "" "" "" "1" "" "00006" "{PMID:Saccone 2007:17994549}" "5 siblings died of cardiovascular events" "M" "" "Italy" ">73y" "0" "" "" "" "" "00213612" "" "" "" "1" "" "00006" "{PMID:Cossee 2009:19303295}" "" "F" "" "Turkey" "" "0" "" "" "" "19303295.1" "00213613" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "" "00213614" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "" "00213615" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "" "00213616" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "" "00213617" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "" "00213618" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "" "00213620" "" "" "" "1" "" "03165" "{PMID:Nectoux 2015:25351777}" "3-generation family, 1 affected, unaffected parents" "M" "" "France" "" "0" "" "" "" "25351777-Pat1" "00213621" "" "" "" "1" "" "03166" "{PMID:Nectoux 2015:25351777}" "2-generation family, 1 affected, unaffected parents" "M" "" "France" "" "0" "" "" "" "25351777-Fam2Pat2" "00219541" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219574" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219579" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219596" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219614" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219692" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219719" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219754" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219918" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219940" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220076" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220090" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220104" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220197" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220214" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220270" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220292" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220299" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220367" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220374" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220391" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220424" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220431" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220461" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220464" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220479" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220614" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220678" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "M" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220735" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220753" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220781" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220794" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220797" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220814" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220837" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220848" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220879" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220928" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220939" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220979" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221011" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221154" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221164" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221191" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221240" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221572" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221621" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221626" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221654" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221685" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221715" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221777" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221821" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221930" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221954" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221989" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221998" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222064" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222076" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222104" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222181" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222259" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222260" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222284" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222414" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222449" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222467" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222536" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222567" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222580" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222641" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222676" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222732" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00226094" "" "" "" "1" "" "00399" "{PMID:Ten Dam 2019:30919934}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Netherlands" "" "0" "" "" "" "" "00269600" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00294730" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305860" "" "" "" "1" "" "00006" "{PMID:Yu 2017:28403181}" "analysis 180 LGMD patients" "M" "" "China" "" "0" "" "" "" "P159" "00313968" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "" "" "" "" "0" "" "" "" "Pat1" "00313969" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "" "" "" "" "0" "" "" "" "Pat2" "00313970" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "" "" "" "" "0" "" "" "" "Pat3" "00313971" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "" "" "" "" "0" "" "" "" "Pat4" "00313972" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "" "" "" "" "0" "" "" "" "Pat6" "00313973" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "" "" "" "" "0" "" "" "" "Pat7" "00313974" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "" "" "" "" "0" "" "" "" "Pat8" "00313975" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "" "" "" "" "0" "" "" "" "Pat9" "00313976" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "" "" "" "" "0" "" "" "" "Pat11" "00313977" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "" "" "" "" "0" "" "" "" "Pat12" "00313978" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "" "" "" "" "0" "" "" "" "Pat13" "00313979" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "" "" "" "" "0" "" "" "" "Pat17" "00313980" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "" "" "" "" "0" "" "" "" "Pat19" "00313981" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "" "" "" "" "0" "" "" "" "Pat20" "00313982" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "" "" "" "" "0" "" "" "" "Pat21" "00313983" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "" "" "" "" "0" "" "" "" "Pat22" "00313984" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "" "" "" "" "0" "" "" "" "Pat23" "00313985" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "" "" "" "" "0" "" "" "" "Pat24" "00313986" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "" "" "" "" "0" "" "" "" "Pat25" "00313987" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "" "" "" "" "0" "" "" "" "Pat26" "00313988" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "" "" "" "" "0" "" "" "" "Pat29" "00313989" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "" "" "" "" "0" "" "" "" "Pat30" "00313990" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "" "" "" "" "0" "" "" "" "Pat31" "00313991" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "" "" "" "" "0" "" "" "" "Pat32" "00313992" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "" "" "" "" "0" "" "" "" "Pat33" "00313993" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "" "" "" "" "0" "" "" "" "Pat34" "00313994" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "M" "" "Turkey" "" "0" "" "" "" "Pat5" "00313995" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "" "" "" "" "0" "" "" "" "Pat10" "00313996" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "F" "" "Belgium" "" "0" "" "" "" "Pat14" "00313997" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "F" "" "Belgium" "" "0" "" "" "" "Pat15" "00313998" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "F" "" "Iran" "" "0" "" "" "Persian" "Pat16" "00313999" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "" "" "" "" "0" "" "" "" "Pat18" "00314000" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "M" "" "" "" "0" "" "" "Bosninan Serb" "Pat27" "00314001" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "F" "" "Serbia" "" "0" "" "" "" "Pat28" "00314002" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "F" "" "Italy" "" "0" "" "" "" "Pat35" "00314003" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "F" "" "Poland" "" "0" "" "" "" "Pat36" "00314004" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat37" "00314005" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "M" "" "Pakistan" "" "0" "" "" "" "Pat38" "00314006" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat39" "00314007" "" "" "" "1" "" "00006" "{PMID:Johnson 2019:29921608}" "" "M" "" "Iran" "" "0" "" "" "Persian" "Pat40" "00314489" "" "" "" "2" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314490" "" "" "" "2" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00358960" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case28865" "00358963" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case71762" "00382800" "" "" "" "1" "" "00000" "{PMID:Song-2011:22025579}" "" "M" "" "" "" "0" "" "" "" "" "00383144" "" "" "" "1" "" "00000" "{PMID:Sathya Priya-2015:24400638}" "" "" "" "" "" "0" "" "" "" "" "00384784" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00385387" "" "" "" "1" "" "00000" "{PMID:Deveault-2011:21344540}" "" "F" "" "" "" "0" "" "" "French" "" "00388706" "" "" "" "1" "" "00006" "{PMID:Chakravorty 2020:33250842}" "" "F" "" "India" "" "0" "" "" "India" "Pat117" "00407658" "" "" "" "1" "" "00000" "{PMID:Kang 2016:27491411}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "J-60" "00473046" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam10767Pat158" "00473113" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam18422Pat238" "00473320" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam203522Pat565" "00473656" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "no" "Iran" "" "0" "" "" "" "Fam9507896Pat1070" "00475661" "" "" "" "1" "" "00006" "{PMID:Zidkova 2023:37526466}" "analysis 226 unrelated LGMD patients" "" "" "Czech Republic" "" "0" "" "" "" "patient" "00475662" "" "" "" "1" "" "00006" "{PMID:Zidkova 2023:37526466}" "analysis 226 unrelated LGMD patients" "" "" "Czech Republic" "" "0" "" "" "" "patient" "00478513" "" "" "" "2" "" "00006" "{PMID:Mair 2020:32419263}" "2-generation family, 2 affected (2M)" "M" "" "Germany" "" "0" "" "" "" "Pat1.1" "00478514" "" "" "00478513" "1" "" "00006" "{PMID:Mair 2020:32419263}" "relative" "M" "" "Germany" "" "0" "" "" "" "Pat1.2" "00479579" "" "" "" "1" "" "00006" "{PMID:Nallamilli 2023:37688281}" "" "M" "" "United States" "" "0" "" "" "" "ARMD465" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 153 "{{individualid}}" "{{diseaseid}}" "00213604" "05126" "00213605" "00244" "00213606" "00244" "00213607" "04212" "00213608" "05126" "00213609" "05126" "00213610" "05126" "00213611" "05126" "00213612" "05126" "00213613" "00198" "00213614" "00198" "00213615" "00198" "00213616" "00198" "00213617" "00198" "00213618" "00198" "00213620" "05126" "00213621" "05126" "00219541" "05126" "00219574" "05126" "00219579" "05126" "00219596" "05126" "00219614" "05126" "00219692" "05126" "00219719" "05126" "00219754" "00000" "00219754" "05126" "00219918" "05126" "00219940" "05126" "00220076" "05126" "00220090" "05126" "00220104" "05126" "00220197" "05126" "00220214" "05126" "00220270" "05126" "00220292" "05126" "00220299" "05126" "00220367" "05126" "00220374" "05126" "00220391" "05126" "00220424" "05126" "00220431" "05126" "00220461" "05126" "00220464" "05126" "00220479" "05126" "00220614" "05126" "00220678" "05126" "00220735" "05126" "00220753" "05126" "00220781" "05126" "00220794" "05126" "00220797" "05126" "00220814" "05126" "00220837" "05126" "00220848" "05126" "00220879" "05126" "00220928" "05126" "00220939" "05126" "00220979" "05126" "00221011" "05126" "00221154" "05126" "00221164" "05126" "00221191" "05126" "00221240" "05126" "00221572" "05126" "00221621" "05126" "00221626" "05126" "00221654" "05126" "00221685" "05126" "00221715" "05126" "00221777" "05126" "00221821" "05126" "00221930" "05126" "00221954" "05126" "00221989" "05126" "00221998" "05126" "00222064" "05126" "00222076" "05126" "00222104" "05126" "00222181" "05126" "00222259" "05126" "00222260" "05126" "00222284" "05126" "00222414" "05126" "00222449" "05126" "00222467" "05126" "00222536" "05126" "00222567" "05126" "00222580" "05126" "00222641" "05126" "00222676" "05126" "00222732" "05126" "00226094" "05126" "00294730" "00198" "00305860" "05126" "00313968" "05126" "00313969" "05126" "00313970" "05126" "00313971" "05126" "00313972" "05126" "00313973" "05126" "00313974" "05126" "00313975" "05126" "00313976" "05126" "00313977" "05126" "00313978" "05126" "00313979" "05126" "00313980" "05126" "00313981" "05126" "00313982" "05126" "00313983" "05126" "00313984" "05126" "00313985" "05126" "00313986" "05126" "00313987" "05126" "00313988" "05126" "00313989" "05126" "00313990" "05126" "00313991" "05126" "00313992" "05126" "00313993" "05126" "00313994" "05126" "00313995" "05126" "00313996" "05126" "00313997" "05126" "00313998" "05126" "00313999" "05126" "00314000" "05126" "00314001" "05126" "00314002" "05126" "00314003" "05126" "00314004" "05126" "00314005" "05126" "00314006" "05126" "00314007" "05126" "00314489" "05126" "00314490" "05126" "00358960" "04214" "00358963" "04214" "00382800" "04214" "00383144" "04214" "00384784" "04214" "00385387" "04214" "00388706" "00244" "00407658" "04214" "00473046" "05126" "00473113" "00244" "00473320" "05121" "00473656" "00244" "00475661" "05126" "00475662" "05126" "00478513" "00244" "00478514" "00244" "00479579" "05618" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00244, 00939, 04212, 04214, 05040, 05121, 05126, 05618 ## Count = 79 "{{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}}" "0000157226" "00198" "00208554" "01164" "Unknown" "" "HP:0008981 (Calf muscle hypertrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000157406" "00198" "00208793" "01164" "Unknown" "" "HP:0011805 (Abnormality of muscle morphology); HP:0003198 (Myopathy)" "" "" "" "" "" "" "" "" "" "" "" "0000162057" "05126" "00213604" "00006" "Familial" "" "Schmiede-, Darius- and Lehrerleut" "" "" "" "" "" "" "" "" "LGMD2H" "limb-girdle muscular dystrophy" "" "0000162058" "00244" "00213605" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "sarcotubular myopathy" "" "0000162059" "00244" "00213606" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "sarcotubular myopathy" "" "0000162060" "04212" "00213607" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "BBS-11" "Bardet-Biedl syndrome" "" "0000162061" "05126" "00213608" "00006" "Unknown" "" "progressive difficulty rising from floor, climbing stairs, walking; wheelchair bound 64y; FVC 0.41" "20y-30y" "" "weakness, paresthesia" "IHC DMD normal" "" "" "" "" "LGMD2H" "limb-girdle muscular dystrophy" "" "0000162062" "05126" "00213609" "00006" "Unknown" "" "muscle cramps after exercise, scapular winging, no calve hypertrophy; CPK raised 4-5x" "8y" "" "" "" "" "" "" "" "LGMD2H" "limb-girdle muscular dystrophy" "" "0000162063" "05126" "00213610" "00006" "Unknown" "" "weakness (proximal, slow progressive), muscle waisting, respirtory weakness, keratitis (chronic); CPK normal" "" "" "" "" "" "" "" "" "LGMD2H" "limb-girdle muscular dystrophy" "" "0000162064" "05126" "00213611" "00006" "Unknown" "" "calf hypertrophy, mild ankle contractions,scapular winging, hypertension, typeII diabetes; CPK raised 2.5x" "" "" "" "" "" "" "" "" "LGMD2H" "limb-girdle muscular dystrophy" "" "0000162065" "05126" "00213612" "00006" "Isolated (sporadic)" "" "37y-diffuse myalgia, arthralgia, mild proximal lower limb deficit; 42y-walking difficulties, proximal weakness 4 limbs; wheelchair bound >51y; CPK 744" "25y" "" "mild proximal upper limb myalgia" "" "" "" "" "" "LGMD2H" "limb-girdle muscular dystrophy" "" "0000162066" "00198" "00213613" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000162067" "00198" "00213614" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000162068" "00198" "00213615" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000162069" "00198" "00213616" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000162070" "00198" "00213617" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000162071" "00198" "00213618" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000162073" "05126" "00213620" "03165" "Familial, autosomal recessive" "" "progressive muscle weakness, difficulties in lifting weights, scapular winging and waddling gait; CPK 400; no intellectual disability" "30y" "50y" "" "" "" "" "" "" "LGMD2H" "limb-girdle muscular dystrophy" "" "0000162074" "05126" "00213621" "03166" "Isolated (sporadic)" "" "late onset mild cognitive impairment" "" "" "" "" "" "" "" "" "LGMD2H" "limb-girdle muscular dystrophy" "" "0000171205" "05126" "00226094" "00399" "Familial, autosomal recessive" "64y" "proximal muscle weakness lower limbs (HP:0008994) and in disease course upper limbs (HP:0008997) and shoulder girdle (HP:0003547); cardiac involvement; elevated serum CK 125U/L (HP:0003236); 41y loss ability to walk (HP:0002540); 64y non-invasive ventilation" "14y" "" "" "" "" "" "" "" "LGMD2H" "limb-girdle muscular dystrophy" "" "0000207404" "00198" "00269600" "01164" "Unknown" "" "Hemiparesis (HP:0001269); Generalized amyotrophy (HP:0003700); Necrotizing myopathy (HP:0008978); onset symptoms 7-8y" "" "" "" "" "" "" "" "" "" "" "" "0000231706" "05126" "00305860" "00006" "Unknown" "39y" "mild (MRC grade ≥4/5); lower limbs more severe than upper limbs; elevated serum CK (max. 698 IU/L); biopsy dystrophic; non-rimmed vacuole; 　" "35y" "" "" "" "" "" "" "" "LGMDR8" "limb-girdle muscular dystrophy" "" "0000238267" "05126" "00313968" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238268" "05126" "00313969" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238269" "05126" "00313970" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238270" "05126" "00313971" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238271" "05126" "00313972" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238272" "05126" "00313973" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238273" "05126" "00313974" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238274" "05126" "00313975" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238275" "05126" "00313976" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238276" "05126" "00313977" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238277" "05126" "00313978" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238278" "05126" "00313979" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238279" "05126" "00313980" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238280" "05126" "00313981" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238281" "05126" "00313982" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238282" "05126" "00313983" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238283" "05126" "00313984" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238284" "05126" "00313985" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238285" "05126" "00313986" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238286" "05126" "00313987" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238287" "05126" "00313988" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238288" "05126" "00313989" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238289" "05126" "00313990" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238290" "05126" "00313991" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238291" "05126" "00313992" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238292" "05126" "00313993" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238293" "05126" "00313994" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "LGMD2H" "proximal muscle weakness" "" "0000238294" "05126" "00313995" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238295" "05126" "00313996" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "LGMD2H" "proximal muscle weakness" "" "0000238296" "05126" "00313997" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "LGMD2H" "proximal muscle weakness" "" "0000238297" "05126" "00313998" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238298" "05126" "00313999" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238299" "05126" "00314000" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "LGMD2H" "proximal muscle weakness" "" "0000238300" "05126" "00314001" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "LGMD2H" "proximal muscle weakness" "" "0000238301" "05126" "00314002" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "LGMD2H" "proximal muscle weakness" "" "0000238302" "05126" "00314003" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "LGMD2H" "proximal muscle weakness" "" "0000238303" "05126" "00314004" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238304" "05126" "00314005" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238305" "05126" "00314006" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000238306" "05126" "00314007" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "proximal muscle weakness" "" "0000254258" "04214" "00358960" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254261" "04214" "00358963" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000276656" "04214" "00382800" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000276934" "04214" "00383144" "00000" "Familial, autosomal recessive" "" "obesity, polydactyly, hypogonadism" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome (BBS)" "" "0000278567" "04214" "00384784" "00000" "Familial, autosomal recessive" "" "obesity, mental retardation, renal disease, polydactyly, aopy, typical facies, ventricular septal defect, hypogenitalism" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000279183" "04214" "00385387" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000282246" "00244" "00388706" "00006" "Familial, autosomal recessive" "30y" "distal muscle weakness, proximal muscle weakness; CK level 1708 IU/L; difficulty getting up from ground, Calf hypertrophy; Most-affected muscles: Mild upper and lower girdle weakness" "25y" "" "" "" "" "" "" "" "" "" "" "0000299805" "04214" "00407658" "00000" "Familial, autosomal recessive" "" "end-stage renal disease (years): 1.2, extra-renal manifestations: OMA, optic nerve anomaly, cerebellar vermis aplasia, developmental delay, hepatic fibrosis, choledochal cyst" "" "" "" "" "" "" "" "" "nephronophthisis-related ciliopathy" "" "" "0000357841" "05126" "00473046" "00006" "Unknown" "32y" "onset since 15y ago with abnormal gait; Difficulty climbing steps and running; Increased fatigue; Proximal & distal weakness in lower limbs; EMG-NCV: mild myopathic process; Elevated CPK; Muscle biopsy suggestive of muscular dystrophy with many lobulated fibers." "" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000357908" "00244" "00473113" "00006" "Familial, autosomal recessive" "40y" "onset 11y with wasting of lower muscle, difficulty running & climbing steps; Lower & upper muscle weakness; Positive Gower sign; Abnormality of gait; Decreased muscle force; High CPK; Hypothyroidism EMG-NCV: chronic myopathic process; Muscle biopsy: muscular dystrophy." "" "" "" "" "" "" "" "" "" "myopathy" "" "0000358115" "05121" "00473320" "00006" "Familial, autosomal recessive" "32y" "onset 7y earlier, lower muscle weakness, calf pseudohypertrophy, positive Gower`s sign , walking, climbing and running difficulty, chronic non- irritable myopathy reported in EMG, muscular dystrophy reported in muscle biopsy ,elevated CPK and normal echocardiography" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000358451" "00244" "00473656" "00006" "Unknown" "39y" "Proximal muscle weakness, progressive, lower limbs>upper limbs; Pelvic girdle weakness; Muscle stiffness, lower limbs; Prominent calves, mild; Difficulty walking, running and climbing stairs; Abnormal gait; Fatigue; Lordosis and Scoliosis. EMG-NCV findings are compatible with a mild myopathic process without any spontaneous activity. Muscle biopsy reveals marked chronic myopathic atrophy with some degenerative/regenerative fibers associated with prominent adipose tissue replacement, some inter-myofibrillar network pattern disruption as well as few autophagic vacuoles and multiple lobulated fibers. IHC showed weak labeling of some fibers with dystrophin central rod and N-terminal antibodies and few lysosomal vacuoles are labeled" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000360336" "05126" "00475661" "00006" "Familial, autosomal recessive" "" "not reported" "" "" "" "" "" "" "" "" "LGMDR8" "limb-girdle muscular dystrophy" "" "0000360337" "05126" "00475662" "00006" "Familial, autosomal recessive" "" "not reported" "" "" "" "" "" "" "" "" "LGMDR8" "limb-girdle muscular dystrophy" "" "0000363028" "00244" "00478513" "00006" "Familial, autosomal recessive" "43y" "see paper; ..., weakness facial muscles; no weakness neck muscles; weakness trunk muscles; weakness proximal upper limb muscles; no weakness distal upper limb muscles; weakness proximal lower limb muscles; weakness distal lower limb muscles; elevated creatine kinase level (max. 926U/L); unathletic since childhood, hypertrophy of quadriceps" "27y" "" "" "" "" "" "" "" "LGMDR8" "vacuolar myopathy" "" "0000363029" "00244" "00478514" "00006" "Familial, autosomal recessive" "54y" "see paper; ..., no weakness facial muscles; no weakness neck muscles; no weakness trunk muscles; weakness proximal upper limb muscles; no weakness distal upper limb muscles; weakness proximal lower limb muscles; weakness distal lower limb muscles; elevated creatine kinase level (max. 1500U/L); atrophy hamstrings/ll, 53y-wheelchair bound" "36y" "" "" "" "" "" "" "" "LGMDR8" "vacuolar myopathy" "" "0000364094" "05618" "00479579" "00006" "Familial, autosomal recessive" "35y" "not specified" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 155 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000209602" "00208554" "1" "01164" "01164" "2018-12-10 11:04:42" "" "" "SEQ-NG" "DNA" "" "" "0000209842" "00208793" "1" "01164" "01164" "2018-12-17 10:13:33" "" "" "SEQ-NG" "DNA" "" "" "0000214673" "00213604" "1" "00006" "00006" "2003-01-18 17:50:11" "00006" "2012-03-09 19:03:40" "SEQ" "DNA" "" "" "0000214674" "00213605" "1" "00006" "00006" "2005-10-29 20:17:52" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000214675" "00213606" "1" "00006" "00006" "2005-10-29 20:20:24" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000214676" "00213607" "1" "00006" "00006" "2006-09-30 16:27:46" "00006" "2012-03-09 19:02:29" "SEQ;SSCA" "DNA" "" "" "0000214677" "00213608" "1" "00006" "00006" "2008-07-18 17:05:06" "00006" "2013-02-01 19:44:13" "DHPLC;SEQ" "DNA" "" "" "0000214678" "00213609" "1" "00006" "00006" "2008-07-18 17:05:06" "00006" "2013-02-01 19:44:13" "DHPLC;SEQ" "DNA" "" "" "0000214679" "00213610" "1" "00006" "00006" "2008-07-18 17:05:06" "00006" "2013-02-01 19:44:13" "DHPLC;SEQ" "DNA" "" "" "0000214680" "00213611" "1" "00006" "00006" "2008-07-18 17:05:06" "00006" "2013-02-01 19:44:13" "DHPLC;SEQ" "DNA" "" "" "0000214681" "00213612" "1" "00006" "00006" "2009-05-02 18:00:20" "00006" "2012-03-09 19:02:29" "arraySNP;SEQ" "DNA" "" "" "0000214682" "00213613" "1" "00430" "00006" "2012-10-26 15:32:08" "" "" "SEQ" "DNA" "" "" "0000214683" "00213614" "1" "00430" "00006" "2012-10-26 15:32:08" "" "" "SEQ" "DNA" "" "" "0000214684" "00213615" "1" "00430" "00006" "2012-10-26 15:32:08" "" "" "SEQ" "DNA" "" "" "0000214685" "00213616" "1" "00430" "00006" "2012-10-26 15:32:08" "" "" "SEQ" "DNA" "" "" "0000214686" "00213617" "1" "00430" "00006" "2012-10-26 15:32:08" "" "" "SEQ" "DNA" "" "" "0000214687" "00213618" "1" "00430" "00006" "2012-10-26 15:32:08" "" "" "SEQ" "DNA" "" "" "0000214689" "00213620" "1" "03165" "00006" "2014-08-21 12:38:37" "00006" "2014-08-22 10:08:58" "arraySEQ" "DNA" "" "" "0000214690" "00213621" "1" "03166" "00006" "2014-08-25 16:14:22" "00006" "2014-09-19 15:20:52" "arrayCGH;PCRq" "DNA" "" "" "0000220612" "00219541" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220645" "00219574" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220650" "00219579" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220667" "00219596" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220685" "00219614" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220763" "00219692" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220790" "00219719" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220825" "00219754" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220989" "00219918" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221011" 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"00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223712" "00222641" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223747" "00222676" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223803" "00222732" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000227162" "00226094" "1" "00399" "00006" "2019-02-25 11:31:09" "00006" "2019-02-25 11:34:22" "SEQ" "DNA" "" "" "0000270756" "00269600" "1" "01164" "01164" "2019-12-03 10:07:45" "" "" "SEQ-NG-S" "DNA" "" "" "0000295898" "00294730" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306990" "00305860" "1" "00006" "00006" "2020-07-02 12:45:49" "" "" "SEQ;SEQ-NG" "DNA" "" "candidate 420-gene panel" "0000315141" "00313968" "1" "00006" "00006" "2020-10-10 14:11:39" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000315142" 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"SEQ;SEQ-NG" "DNA" "" "" "0000315163" "00313990" "1" "00006" "00006" "2020-10-10 14:11:39" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000315164" "00313991" "1" "00006" "00006" "2020-10-10 14:11:39" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000315165" "00313992" "1" "00006" "00006" "2020-10-10 14:11:39" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000315166" "00313993" "1" "00006" "00006" "2020-10-10 14:11:39" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000315167" "00313994" "1" "00006" "00006" "2020-10-10 14:11:39" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000315168" "00313995" "1" "00006" "00006" "2020-10-10 14:11:39" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000315169" "00313996" "1" "00006" "00006" "2020-10-10 14:11:39" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000315170" "00313997" "1" "00006" "00006" "2020-10-10 14:11:39" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000315171" "00313998" "1" "00006" "00006" "2020-10-10 14:11:39" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000315172" "00313999" "1" "00006" "00006" "2020-10-10 14:11:39" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000315173" "00314000" "1" "00006" "00006" "2020-10-10 14:11:39" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000315174" "00314001" "1" "00006" "00006" "2020-10-10 14:11:39" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000315175" "00314002" "1" "00006" "00006" "2020-10-10 14:11:39" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000315176" "00314003" "1" "00006" "00006" "2020-10-10 14:11:39" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000315177" "00314004" "1" "00006" "00006" "2020-10-10 14:11:39" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000315178" "00314005" "1" "00006" "00006" "2020-10-10 14:11:39" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000315179" "00314006" "1" "00006" "00006" "2020-10-10 14:11:39" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000315180" "00314007" "1" "00006" "00006" "2020-10-10 14:11:39" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000315662" "00314489" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315663" "00314490" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000360197" "00358960" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360200" "00358963" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000384016" "00382800" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "arraySEQ;PCR" "DNA" "blood" "" "0000384368" "00383144" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "arraySNP;PCR" "DNA;RNA" "blood" "" "0000386010" "00384784" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySNP;SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000386616" "00385387" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "?" "?" "blood" "" "0000389948" "00388706" "1" "00006" "00006" "2021-11-04 20:51:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000408910" "00407658" "1" "00000" "03840" "2022-04-07 15:22:18" "" "" "SEQ-NG-I" "DNA" "" "targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD" "0000474715" "00473046" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474782" "00473113" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474989" "00473320" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475325" "00473656" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000477305" "00475661" "1" "00006" "00006" "2026-04-10 16:49:50" "" "" "SEQ;SEQ-NG" "DNA" "" "439-gene panel" "0000477306" "00475662" "1" "00006" "00006" "2026-04-10 16:49:50" "" "" "SEQ;SEQ-NG" "DNA" "" "439-gene panel" "0000480160" "00478513" "1" "00006" "00006" "2026-05-11 11:29:23" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000480161" "00478514" "1" "00006" "00006" "2026-05-11 11:29:23" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000481226" "00479579" "1" "00006" "00006" "2026-05-12 09:28:48" "" "" "SEQ;SEQ-NG" "DNA" "" "66-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 66 "{{screeningid}}" "{{geneid}}" "0000214673" "TRIM32" "0000214674" "TRIM32" "0000214675" "TRIM32" "0000214676" "TRIM32" "0000214677" "TRIM32" "0000214678" "TRIM32" "0000214679" "TRIM32" "0000214680" "TRIM32" "0000214681" "TRIM32" "0000214682" "TRIM32" "0000214683" "TRIM32" "0000214684" "TRIM32" "0000214685" "TRIM32" "0000214686" "TRIM32" "0000214687" "TRIM32" "0000214689" "TRIM32" "0000214690" "TRIM32" "0000227162" "TRIM32" "0000306990" "TRIM32" "0000315141" "TRIM32" "0000315142" "TRIM32" "0000315143" "TRIM32" "0000315144" "TRIM32" "0000315145" "TRIM32" "0000315146" "TRIM32" "0000315147" "TRIM32" "0000315148" "TRIM32" "0000315149" "TRIM32" "0000315150" "TRIM32" "0000315151" "TRIM32" "0000315152" "TRIM32" "0000315153" "TRIM32" "0000315154" "TRIM32" "0000315155" "TRIM32" "0000315156" "TRIM32" "0000315157" "TRIM32" "0000315158" "TRIM32" "0000315159" "TRIM32" "0000315160" "TRIM32" "0000315161" "TRIM32" "0000315162" "TRIM32" "0000315163" "TRIM32" "0000315164" "TRIM32" "0000315165" "TRIM32" "0000315166" "TRIM32" "0000315167" "TRIM32" "0000315168" "TRIM32" "0000315169" "TRIM32" "0000315170" "TRIM32" "0000315171" "TRIM32" "0000315172" "TRIM32" "0000315173" "TRIM32" "0000315174" "TRIM32" "0000315175" "TRIM32" "0000315176" "TRIM32" "0000315177" "TRIM32" "0000315178" "TRIM32" "0000315179" "TRIM32" "0000315180" "TRIM32" "0000315662" "TRIM32" "0000315663" "TRIM32" "0000384016" "CACNA1F" "0000384368" "TRIM32" "0000386010" "BBS1" "0000386616" "BBS5" "0000408910" "TRIM32" ## 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 = 238 "{{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}}" "0000246809" "0" "10" "9" "119461551" "119461551" "subst" "2.43647E-5" "02330" "TRIM32_000033" "g.119461551A>G" "" "" "" "ASTN2(NM_014010.5):c.2653+26499T>C, TRIM32(NM_012210.4):c.1530A>G (p.L510=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116699272A>G" "" "benign" "" "0000258402" "0" "50" "9" "119460297" "119460297" "subst" "0.000243962" "02330" "TRIM32_000023" "g.119460297C>T" "" "" "" "ASTN2(NM_014010.5):c.2653+27753G>A, TRIM32(NM_001099679.1):c.276C>T (p.(Ser92=)), TRIM32(NM_012210.3):c.276C>T (p.S92=), TRIM32(NM_012210.4):c.276C..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116698018C>T" "" "VUS" "" "0000309515" "0" "10" "9" "119461212" "119461212" "subst" "1.62599E-5" "02330" "TRIM32_000031" "g.119461212C>G" "" "" "" "ASTN2(NM_014010.5):c.2653+26838G>C, TRIM32(NM_012210.4):c.1191C>G (p.V397=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116698933C>G" "" "benign" "" "0000309516" "0" "10" "9" "119461275" "119461275" "subst" "0.110902" "02330" "TRIM32_000003" "g.119461275G>A" "" "" "" "ASTN2(NM_014010.5):c.2653+26775C>T, TRIM32(NM_001099679.1):c.1254G>A (p.V418=), TRIM32(NM_012210.4):c.1254G>A (p.V418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116698996G>A" "" "benign" "" "0000313503" "0" "50" "9" "119461808" "119461808" "subst" "2.43756E-5" "02329" "TRIM32_000034" "g.119461808G>A" "" "" "" "TRIM32(NM_012210.4):c.1787G>A (p.R596H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116699529G>A" "" "VUS" "" "0000314820" "0" "10" "9" "119460500" "119460500" "subst" "7.3125E-5" "02326" "TRIM32_000025" "g.119460500T>C" "" "" "" "TRIM32(NM_012210.3):c.479T>C (p.M160T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116698221T>C" "" "benign" "" "0000314821" "0" "30" "9" "119460542" "119460542" "subst" "0.000186869" "02326" "TRIM32_000029" "g.119460542C>T" "" "" "" "TRIM32(NM_001099679.1):c.521C>T (p.(Ser174Phe)), TRIM32(NM_012210.3):c.521C>T (p.S174F), TRIM32(NM_012210.4):c.521C>T (p.S174F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116698263C>T" "" "likely benign" "" "0000317046" "0" "50" "9" "119461243" "119461243" "subst" "0.00149888" "01943" "TRIM32_000032" "g.119461243C>T" "" "" "" "TRIM32(NM_001379048.1):c.1222C>T (p.R408C), TRIM32(NM_012210.3):c.1222C>T (p.R408C), TRIM32(NM_012210.4):c.1222C>T (p.R408C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116698964C>T" "" "VUS" "" "0000317047" "0" "10" "9" "119461275" "119461275" "subst" "0.110902" "01943" "TRIM32_000003" "g.119461275G>A" "" "" "" "ASTN2(NM_014010.5):c.2653+26775C>T, TRIM32(NM_001099679.1):c.1254G>A (p.V418=), TRIM32(NM_012210.4):c.1254G>A (p.V418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116698996G>A" "" "benign" "" "0000317048" "0" "50" "9" "119461882" "119461882" "subst" "4.06329E-6" "01943" "TRIM32_000035" "g.119461882G>A" "" "" "" "TRIM32(NM_012210.3):c.1861G>A (p.G621S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116699603G>A" "" "VUS" "" "0000317049" "0" "50" "9" "119460403" "119460403" "subst" "0" "01943" "TRIM32_000024" "g.119460403C>T" "" "" "" "TRIM32(NM_001099679.1):c.382C>T (p.H128Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116698124C>T" "" "VUS" "" "0000317050" "0" "50" "9" "119460518" "119460518" "subst" "3.25026E-5" "01943" "TRIM32_000027" "g.119460518G>A" "" "" "" "TRIM32(NM_001099679.1):c.497G>A (p.(Arg166Gln)), TRIM32(NM_012210.3):c.497G>A (p.R166Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116698239G>A" "" "VUS" "" "0000317051" "0" "30" "9" "119460522" "119460522" "subst" "2.84377E-5" "01943" "TRIM32_000028" "g.119460522G>A" "" "" "" "TRIM32(NM_001099679.1):c.501G>A (p.(Lys167=)), TRIM32(NM_012210.3):c.501G>A (p.K167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116698243G>A" "" "likely benign" "" "0000332759" "0" "50" "9" "119188218" "119188218" "subst" "1.62545E-5" "01804" "ASTN2_000003" "g.119188218T>C" "" "" "" "ASTN2(NM_001184734.1):c.1088A>G (p.(Tyr363Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116425939T>C" "" "VUS" "" "0000332760" "0" "50" "9" "119460500" "119460501" "ins" "0" "01804" "TRIM32_000026" "g.119460500_119460501insA" "" "" "" "TRIM32(NM_012210.3):c.479_480insA (p.(Met160IlefsTer23))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116698221_116698222insA" "" "VUS" "" "0000332761" "0" "50" "9" "119460518" "119460518" "subst" "3.25026E-5" "01804" "TRIM32_000027" "g.119460518G>A" "" "" "" "TRIM32(NM_001099679.1):c.497G>A (p.(Arg166Gln)), TRIM32(NM_012210.3):c.497G>A (p.R166Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116698239G>A" "" "VUS" "" "0000332762" "0" "50" "9" "119460579" "119460579" "subst" "0.0018977" "01804" "TRIM32_000030" "g.119460579G>C" "" "" "" "ASTN2(NM_014010.5):c.2653+27471C>G, TRIM32(NM_001099679.1):c.558G>C (p.Q186H, p.(Gln186His)), TRIM32(NM_012210.3):c.558G>C (p.Q186H), TRIM32(NM_01...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116698300G>C" "" "VUS" "" "0000332765" "0" "50" "9" "119976958" "119976958" "subst" "2.97357E-5" "01804" "ASTN2_000016" "g.119976958G>A" "" "" "" "ASTN2(NM_014010.4):c.694C>T (p.(Arg232Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.117214679G>A" "" "VUS" "" "0000332766" "0" "50" "9" "120176941" "120176946" "dup" "0" "01804" "ASTN2_000017" "g.120176941_120176946dup" "" "" "" "ASTN2(NM_014010.4):c.279_280insGCTGGG (p.(Ala92_Gly93dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.117414663_117414668dup" "" "VUS" "" "0000439764" "3" "50" "9" "119460488" "119460488" "subst" "6.09484E-5" "01164" "TRIM32_000021" "g.119460488T>C" "" "" "" "" "reported in Kang ; 2016. Exp 48: e251" "Germline" "" "rs145907585" "0" "" "" "g.116698209T>C" "" "VUS" "ACMG" "0000440069" "0" "50" "9" "119461163" "119461163" "subst" "0" "01164" "TRIM32_000022" "g.119461163G>A" "" "" "" "" "not regarded causative for phenotype, no second variant in TRIM32 detected" "Germline" "" "" "0" "" "" "g.116698884G>A" "" "VUS" "ACMG" "0000447004" "1" "90" "9" "119461480" "119461480" "subst" "8.12354E-6" "00006" "TRIM32_000001" "g.119461480G>A" "" "{PMID:Frosk 2002:11822024}, {PMID:Frosk 2005:15580560}, {OMIM602290:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.116699201G>A" "" "pathogenic" "" "0000447005" "2" "90" "9" "119461480" "119461480" "subst" "8.12354E-6" "00006" "TRIM32_000001" "g.119461480G>A" "" "{PMID:Frosk 2002:11822024}, {PMID:Frosk 2005:15580560}, {OMIM602290:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.116699201G>A" "" "pathogenic" "" "0000447006" "1" "90" "9" "119461480" "119461480" "subst" "8.12354E-6" "00006" "TRIM32_000001" "g.119461480G>A" "" "{PMID:Schoser 2005:15786463}, {PMID:Jerusalem 1973:4269389}" "" "" "" "Germline" "" "" "0" "" "" "g.116699201G>A" "" "pathogenic" "" "0000447007" "2" "90" "9" "119461480" "119461480" "subst" "8.12354E-6" "00006" "TRIM32_000001" "g.119461480G>A" "" "{PMID:Schoser 2005:15786463}, {PMID:Jerusalem 1973:4269389}" "" "" "" "Germline" "" "" "0" "" "" "g.116699201G>A" "" "pathogenic" "" "0000447008" "1" "90" "9" "119461480" "119461480" "subst" "8.12354E-6" "00006" "TRIM32_000001" "g.119461480G>A" "" "{PMID:Schoser 2005:15786463}, {PMID:Muller-Felber 1999:10399877}" "" "" "" "Germline" "" "" "0" "" "" "g.116699201G>A" "" "pathogenic" "" "0000447009" "2" "90" "9" "119461480" "119461480" "subst" "8.12354E-6" "00006" "TRIM32_000001" "g.119461480G>A" "" "{PMID:Schoser 2005:15786463}, {PMID:Muller-Felber 1999:10399877}" "" "" "" "Germline" "" "" "0" "" "" "g.116699201G>A" "" "pathogenic" "" "0000447010" "1" "90" "9" "119460409" "119460409" "subst" "8.16446E-6" "00006" "TRIM32_000007" "g.119460409C>T" "" "{PMID:Chiang 2006:16606853}, {OMIM602290:0002}" "" "" "not in 368 control chromosomes" "Germline" "" "" "0" "" "" "g.116698130C>T" "" "pathogenic" "" "0000447011" "2" "90" "9" "119460409" "119460409" "subst" "8.16446E-6" "00006" "TRIM32_000007" "g.119460409C>T" "" "{PMID:Chiang 2006:16606853}, {OMIM602290:0002}" "" "" "not in 368 control chromosomes" "Germline" "" "" "0" "" "" "g.116698130C>T" "" "pathogenic" "" "0000447012" "1" "90" "9" "119461202" "119461202" "subst" "3.65785E-5" "00006" "TRIM32_000009" "g.119461202G>A" "" "{PMID:Saccone 2007:17994549}" "" "1180G>A" "not in 600 control chromosomes" "Germline" "" "" "0" "" "" "g.116698923G>A" "" "pathogenic" "" "0000447013" "2" "90" "9" "119461202" "119461202" "subst" "3.65785E-5" "00006" "TRIM32_000009" "g.119461202G>A" "" "{PMID:Saccone 2007:17994549}" "" "1180G>A" "not in 600 control chromosomes" "Germline" "" "" "0" "" "" "g.116698923G>A" "" "pathogenic" "" "0000447014" "1" "90" "9" "119461783" "119461785" "del" "0" "00006" "TRIM32_000010" "g.119461783_119461785del" "" "{PMID:Saccone 2007:17994549}" "" "1761_1763del" "not in 600 control chromosomes" "Germline" "" "" "0" "" "" "g.116699504_116699506del" "" "pathogenic" "" "0000447015" "1" "90" "9" "119461581" "119461581" "del" "0" "00006" "TRIM32_000011" "g.119461581del" "" "{PMID:Saccone 2007:17994549}" "MslI+" "1559delC" "not in 600 control chromosomes" "Germline" "" "" "0" "" "" "g.116699302del" "" "pathogenic" "" "0000447016" "2" "90" "9" "119461581" "119461581" "del" "0" "00006" "TRIM32_000011" "g.119461581del" "" "{PMID:Saccone 2007:17994549}" "MslI+" "1559delC" "not in 600 control chromosomes" "Germline" "" "" "0" "" "" "g.116699302del" "" "pathogenic" "" "0000447017" "1" "90" "9" "119461202" "119461202" "subst" "3.65785E-5" "00006" "TRIM32_000009" "g.119461202G>A" "" "{PMID:Saccone 2007:17994549}" "" "1180G>A" "not in 600 control chromosomes" "Germline" "" "" "0" "" "" "g.116698923G>A" "" "pathogenic" "" "0000447018" "1" "90" "9" "119461774" "119461787" "dup" "0" "00006" "TRIM32_000008" "g.119461774_119461787dup" "" "Cossee ESHG2007 P1111, {PMID:Cossee 2009:19303295}" "" "" "homozygosity mapping, not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.116699495_116699508dup" "" "pathogenic" "" "0000447019" "2" "90" "9" "119461774" "119461787" "dup" "0" "00006" "TRIM32_000008" "g.119461774_119461787dup" "" "Cossee ESHG2007 P1111, {PMID:Cossee 2009:19303295}" "" "" "homozygosity mapping; not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.116699495_116699508dup" "" "pathogenic" "" "0000447020" "0" "50" "9" "119460360" "119460360" "subst" "0.000110008" "00430" "TRIM32_000013" "g.119460360G>C" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.116698081G>C" "" "VUS" "" "0000447021" "0" "50" "9" "119460501" "119460501" "subst" "0.000170626" "00430" "TRIM32_000014" "g.119460501G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.116698222G>A" "" "VUS" "" "0000447022" "0" "10" "9" "119461275" "119461275" "subst" "0.110902" "00430" "TRIM32_000003" "g.119461275G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.116698996G>A" "" "benign" "" "0000447023" "0" "90" "9" "119461480" "119461480" "subst" "8.12354E-6" "00430" "TRIM32_000001" "g.119461480G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.116699201G>A" "" "pathogenic" "" "0000447024" "0" "10" "9" "119460666" "119460666" "subst" "0" "00430" "TRIM32_000015" "g.119460666T>G" "" "from website {DBsub-Emory}" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "benign" "" "0000447025" "0" "10" "9" "119460672" "119460672" "subst" "0" "00430" "TRIM32_000016" "g.119460672T>C" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.116698393T>C" "" "benign" "" "0000447027" "1" "90" "9" "119461624" "119461624" "del" "0" "03165" "TRIM32_000018" "g.119461624del" "" "" "" "1603delC" "" "Unknown" "" "" "0" "" "" "g.116699345del" "" "pathogenic (recessive)" "" "0000447028" "2" "90" "9" "119449208" "119519424" "del" "0" "03165" "TRIM32_000019" "g.(119432957_119449208)_(119519424_119636599)del" "" "{PMID:Nectoux 2015:25351777}" "" "hg19:119447866_119572263del" "deletion includes 5\' end ASTN2 gene" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000447030" "3" "90" "9" "119449208" "119802166" "del" "0" "03166" "TRIM32_000036" "g.(119770397_119802166)_(119432957_119449208)del" "" "{PMID:Nectoux 2015:25351777}" "" "" "deletion includes 3\'end ASTN2" "Germline" "-" "" "0" "" "" "" "" "pathogenic" "" "0000447031" "1" "10" "9" "119462572" "119462572" "subst" "0" "00006" "TRIM32_000012" "g.119462572G>A" "0.05-0.08" "" "" "" "" "Germline" "" "rs16933835" "0" "" "" "g.116700293G>A" "" "benign" "" "0000447032" "1" "10" "9" "119460791" "119460791" "subst" "0.000707041" "00006" "TRIM32_000002" "g.119460791C>G" "0.00-0.02" "" "" "" "" "Germline" "" "rs3747834" "0" "" "" "g.116698512C>G" "" "benign" "" "0000447033" "1" "10" "9" "119461275" "119461275" "subst" "0.110902" "00006" "TRIM32_000003" "g.119461275G>A" "0.05-0.19" "" "" "" "" "Germline" "" "rs1661300" "0" "" "" "g.116698996G>A" "" "benign" "" "0000447034" "1" "10" "9" "119461836" "119461836" "subst" "0" "00006" "TRIM32_000004" "g.119461836T>C" "" "" "" "" "" "Germline" "" "rs1058687" "0" "" "" "g.116699557T>C" "" "benign" "" "0000447035" "1" "10" "9" "119462112" "119462112" "subst" "0" "00006" "TRIM32_000005" "g.119462112C>T" "0.16-1.00" "" "" "2091T>C" "" "Germline" "" "rs3019" "0" "" "" "g.116699833C>T" "" "benign" "" "0000447036" "0" "90" "9" "119461480" "119461480" "subst" "8.12354E-6" "00006" "TRIM32_000001" "g.119461480G>A" "" "{PMID:Saccone 2007:17994549}" "" "" "YTH cloning in pGBKT7/pGADT7, no homo-dimerisation, no UBE2N binding; GFP-TRIM32 normal localization COS7" "In vitro (cloned)" "" "" "0" "" "" "g.116699201G>A" "" "NA" "" "0000447037" "0" "90" "9" "119461202" "119461202" "subst" "3.65785E-5" "00006" "TRIM32_000009" "g.119461202G>A" "" "{PMID:Saccone 2007:17994549}" "" "1180G>A" "YTH cloning in pGBKT7/pGADT7, no homo-dimerisation, no UBE2N binding; GFP-TRIM32 normal localization COS7" "In vitro (cloned)" "" "" "0" "" "" "g.116698923G>A" "" "NA" "" "0000447038" "0" "90" "9" "119461783" "119461785" "del" "0" "00006" "TRIM32_000010" "g.119461783_119461785del" "" "{PMID:Saccone 2007:17994549}" "" "1761_1763del" "YTH cloning in pGBKT7/pGADT7, slower homo-dimerisation, reduced UBE2N binding; GFP-TRIM32 normal localization COS7" "In vitro (cloned)" "" "" "0" "" "" "g.116699504_116699506del" "" "NA" "" "0000447039" "0" "90" "9" "119461581" "119461581" "del" "0" "00006" "TRIM32_000011" "g.119461581del" "" "{PMID:Saccone 2007:17994549}" "" "1559delC" "YTH cloning in pGBKT7/pGADT7, no homo-dimerisation, no UBE2N binding; GFP-TRIM32 normal localization COS7" "In vitro (cloned)" "" "" "0" "" "" "g.116699302del" "" "NA" "" "0000447040" "0" "90" "9" "119460409" "119460409" "subst" "8.16446E-6" "00006" "TRIM32_000007" "g.119460409C>T" "" "{PMID:Saccone 2007:17994549}" "" "" "YTH cloning in pGBKT7/pGADT7, normal homo-dimerisation, normal UBE2N binding; GFP-TRIM32 normal localization COS7" "In vitro (cloned)" "" "" "0" "" "" "g.116698130C>T" "" "NA" "" "0000461177" "3" "70" "9" "119461205" "119461205" "subst" "0" "00399" "TRIM32_000037" "g.119461205T>C" "" "{PMID:Ten Dam 2019:30919934}" "" "" "" "Germline" "" "" "0" "" "" "g.116698926T>C" "" "likely pathogenic (recessive)" "" "0000466741" "1" "50" "9" "119461801" "119461801" "subst" "1.2186E-5" "00430" "TRIM32_000072" "g.119461801A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116699522A>G" "" "VUS" "" "0000466742" "1" "50" "9" "119461859" "119461859" "subst" "3.25076E-5" "00430" "TRIM32_000075" "g.119461859G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.116699580G>A" "" "VUS" "" "0000466743" "1" "50" "9" "119461600" "119461600" "subst" "1.62479E-5" "00430" "TRIM32_000068" "g.119461600G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116699321G>A" "" "VUS" "" "0000466744" "1" "50" "9" "119461183" "119461183" "subst" "4.06329E-6" "00430" "TRIM32_000061" "g.119461183G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698904G>A" "" "VUS" "" "0000466745" "1" "50" "9" "119461220" "119461220" "subst" "2.03353E-5" "00430" "TRIM32_000064" "g.119461220G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.116698941G>A" "" "VUS" "" "0000466746" "1" "50" "9" "119461220" "119461220" "subst" "2.03353E-5" "00430" "TRIM32_000064" "g.119461220G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698941G>A" "" "VUS" "" "0000466747" "1" "50" "9" "119460579" "119460579" "subst" "0.0018977" "00430" "TRIM32_000030" "g.119460579G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698300G>C" "" "VUS" "" "0000466748" "1" "50" "9" "119460119" "119460119" "subst" "4.0621E-6" "00430" "TRIM32_000040" "g.119460119G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116697840G>A" "" "VUS" "" "0000466749" "1" "50" "9" "119461243" "119461243" "subst" "0.00149888" "00430" "TRIM32_000032" "g.119461243C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.116698964C>T" "" "VUS" "" "0000466750" "1" "50" "9" "119460721" "119460721" "subst" "0" "00430" "TRIM32_000052" "g.119460721C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.116698442C>A" "" "VUS" "" "0000466751" "1" "50" "9" "119460579" "119460579" "subst" "0.0018977" "00430" "TRIM32_000030" "g.119460579G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.116698300G>C" "" "VUS" "" "0000466752" "1" "50" "9" "119461199" "119461199" "subst" "0" "00430" "TRIM32_000062" "g.119461199A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698920A>G" "" "VUS" "" "0000466753" "1" "50" "9" "119460313" "119460313" "subst" "0.000101641" "00430" "TRIM32_000042" "g.119460313C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698034C>A" "" "VUS" "" "0000466754" "1" "50" "9" "119461025" "119461025" "subst" "1.62559E-5" "00430" "TRIM32_000057" "g.119461025G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698746G>A" "" "VUS" "" "0000466755" "1" "50" "9" "119461243" "119461243" "subst" "0.00149888" "00430" "TRIM32_000032" "g.119461243C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.116698964C>T" "" "VUS" "" "0000466756" "1" "50" "9" "119461243" "119461243" "subst" "0.00149888" "00430" "TRIM32_000032" "g.119461243C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698964C>T" "" "VUS" "" "0000466757" "1" "50" "9" "119460579" "119460579" "subst" "0.0018977" "00430" "TRIM32_000030" "g.119460579G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698300G>C" "" "VUS" "" "0000466758" "1" "50" "9" "119461183" "119461183" "subst" "4.06329E-6" "00430" "TRIM32_000061" "g.119461183G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.116698904G>A" "" "VUS" "" "0000466759" "1" "50" "9" "119460501" "119460501" "subst" "0.000170626" "00430" "TRIM32_000014" "g.119460501G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698222G>A" "" "VUS" "" "0000466760" "1" "50" "9" "119461202" "119461202" "subst" "3.65785E-5" "00430" "TRIM32_000009" "g.119461202G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698923G>A" "" "VUS" "" "0000466761" "1" "50" "9" "119461243" "119461243" "subst" "0.00149888" "00430" "TRIM32_000032" "g.119461243C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.116698964C>T" "" "VUS" "" "0000466762" "1" "50" "9" "119460579" "119460579" "subst" "0.0018977" "00430" "TRIM32_000030" "g.119460579G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.116698300G>C" "" "VUS" "" "0000466763" "1" "50" "9" "119461375" "119461375" "subst" "2.03283E-5" "00430" "TRIM32_000065" "g.119461375C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116699096C>T" "" "VUS" "" "0000466764" "1" "50" "9" "119461007" "119461007" "subst" "4.87694E-5" "00430" "TRIM32_000056" "g.119461007C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698728C>T" "" "VUS" "" "0000466765" "1" "50" "9" "119460501" "119460501" "subst" "0.000170626" "00430" "TRIM32_000014" "g.119460501G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.116698222G>A" "" "VUS" "" "0000466766" "1" "50" "9" "119461243" "119461243" "subst" "0.00149888" "00430" "TRIM32_000032" "g.119461243C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698964C>T" "" "VUS" "" "0000466767" "1" "50" "9" "119460579" "119460579" "subst" "0.0018977" "00430" "TRIM32_000030" "g.119460579G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.116698300G>C" "" "VUS" "" "0000466768" "1" "50" "9" "119460545" "119460545" "subst" "8.1246E-6" "00430" "TRIM32_000049" "g.119460545A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.116698266A>G" "" "VUS" "" "0000466769" "1" "50" "9" "119460579" "119460579" "subst" "0.0018977" "00430" "TRIM32_000030" "g.119460579G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.116698300G>C" "" "VUS" "" "0000466770" "1" "50" "9" "119460579" "119460579" "subst" "0.0018977" "00430" "TRIM32_000030" "g.119460579G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698300G>C" "" "VUS" "" "0000466771" "1" "50" "9" "119460579" "119460579" "subst" "0.0018977" "00430" "TRIM32_000030" "g.119460579G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.116698300G>C" "" "VUS" "" "0000466772" "1" "50" "9" "119460501" "119460501" "subst" "0.000170626" "00430" "TRIM32_000014" "g.119460501G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698222G>A" "" "VUS" "" "0000466773" "1" "50" "9" "119461243" "119461243" "subst" "0.00149888" "00430" "TRIM32_000032" "g.119461243C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.116698964C>T" "" "VUS" "" "0000466774" "1" "50" "9" "119461408" "119461408" "subst" "0" "00430" "TRIM32_000066" "g.119461408G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.116699129G>C" "" "VUS" "" "0000466775" "1" "50" "9" "119461243" "119461243" "subst" "0.00149888" "00430" "TRIM32_000032" "g.119461243C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.116698964C>T" "" "VUS" "" "0000466776" "1" "50" "9" "119460960" "119460960" "subst" "8.13001E-6" "00430" "TRIM32_000055" "g.119460960G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698681G>A" "" "VUS" "" "0000466777" "1" "50" "9" "119460391" "119460391" "subst" "0.000596006" "00430" "TRIM32_000043" "g.119460391C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698112C>T" "" "VUS" "" "0000466778" "1" "50" "9" "119461855" "119461855" "subst" "0" "00430" "TRIM32_000074" "g.119461855A>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.116699576A>T" "" "VUS" "" "0000466779" "1" "50" "9" "119461680" "119461680" "subst" "0" "00430" "TRIM32_000071" "g.119461680C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116699401C>G" "" "VUS" "" "0000466780" "1" "50" "9" "119460434" "119460434" "subst" "0" "00430" "TRIM32_000044" "g.119460434T>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698155T>G" "" "VUS" "" "0000466781" "1" "50" "9" "119461243" "119461243" "subst" "0.00149888" "00430" "TRIM32_000032" "g.119461243C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698964C>T" "" "VUS" "" "0000466782" "3" "50" "9" "119461669" "119461669" "subst" "1.21925E-5" "00430" "TRIM32_000069" "g.119461669T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.116699390T>C" "" "VUS" "" "0000466783" "3" "90" "9" "119460939" "119460939" "dup" "0" "00430" "TRIM32_000054" "g.119460939dup" "" "{PMID:Nallamilli 2018:30564623}" "" "918dupC" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.116698660dup" "" "pathogenic" "" "0000466784" "1" "50" "9" "119460485" "119460485" "subst" "8.12777E-6" "00430" "TRIM32_000046" "g.119460485G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698206G>A" "" "VUS" "" "0000466785" "1" "50" "9" "119460451" "119460451" "subst" "1.62938E-5" "00430" "TRIM32_000045" "g.119460451G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.116698172G>A" "" "VUS" "" "0000466786" "1" "50" "9" "119460894" "119460894" "subst" "4.0654E-6" "00430" "TRIM32_000053" "g.119460894T>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698615T>G" "" "VUS" "" "0000466787" "1" "50" "9" "119461375" "119461375" "subst" "2.03283E-5" "00430" "TRIM32_000065" "g.119461375C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116699096C>T" "" "VUS" "" "0000466788" "1" "50" "9" "119460542" "119460542" "subst" "0.000186869" "00430" "TRIM32_000029" "g.119460542C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698263C>T" "" "VUS" "" "0000466789" "1" "50" "9" "119461243" "119461243" "subst" "0.00149888" "00430" "TRIM32_000032" "g.119461243C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.116698964C>T" "" "VUS" "" "0000466790" "1" "50" "9" "119460045" "119460045" "subst" "2.84377E-5" "00430" "TRIM32_000038" "g.119460045C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116697766C>A" "" "VUS" "" "0000466791" "1" "50" "9" "119461669" "119461669" "subst" "1.21925E-5" "00430" "TRIM32_000069" "g.119461669T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.116699390T>C" "" "VUS" "" "0000466792" "1" "50" "9" "119460148" "119460148" "subst" "2.03072E-5" "00430" "TRIM32_000041" "g.119460148A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116697869A>G" "" "VUS" "" "0000466793" "1" "50" "9" "119461807" "119461807" "subst" "8.12473E-6" "00430" "TRIM32_000073" "g.119461807C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.116699528C>T" "" "VUS" "" "0000466794" "1" "50" "9" "119461201" "119461201" "subst" "4.06385E-6" "00430" "TRIM32_000063" "g.119461201C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.116698922C>T" "" "VUS" "" "0000466795" "1" "50" "9" "119461145" "119461145" "subst" "0" "00430" "TRIM32_000060" "g.119461145T>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.116698866T>G" "" "VUS" "" "0000466796" "1" "70" "9" "119461590" "119461596" "del" "0" "00430" "TRIM32_000067" "g.119461590_119461596del" "" "{PMID:Nallamilli 2018:30564623}" "" "1569_1575del7" "" "Germline" "" "" "0" "" "" "g.116699311_116699317del" "" "likely pathogenic" "" "0000466797" "1" "50" "9" "119461243" "119461243" "subst" "0.00149888" "00430" "TRIM32_000032" "g.119461243C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698964C>T" "" "VUS" "" "0000466798" "1" "50" "9" "119461243" "119461243" "subst" "0.00149888" "00430" "TRIM32_000032" "g.119461243C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698964C>T" "" "VUS" "" "0000466799" "1" "50" "9" "119461243" "119461243" "subst" "0.00149888" "00430" "TRIM32_000032" "g.119461243C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698964C>T" "" "VUS" "" "0000466800" "3" "90" "9" "119460530" "119460530" "subst" "0" "00430" "TRIM32_000048" "g.119460530T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.116698251T>A" "" "pathogenic" "" "0000466801" "1" "50" "9" "119461984" "119461984" "subst" "0.000118036" "00430" "TRIM32_000077" "g.119461984G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116699705G>A" "" "VUS" "" "0000466802" "1" "50" "9" "119460671" "119460671" "subst" "2.845E-5" "00430" "TRIM32_000050" "g.119460671A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.116698392A>G" "" "VUS" "" "0000466803" "1" "90" "9" "119460712" "119460712" "del" "2.03125E-5" "00430" "TRIM32_000051" "g.119460712del" "" "{PMID:Nallamilli 2018:30564623}" "" "691delG" "" "Germline" "" "" "0" "" "" "g.116698433del" "" "pathogenic" "" "0000466804" "1" "50" "9" "119461975" "119461975" "subst" "1.21977E-5" "00430" "TRIM32_000076" "g.119461975A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116699696A>G" "" "VUS" "" "0000466805" "1" "50" "9" "119461243" "119461243" "subst" "0.00149888" "00430" "TRIM32_000032" "g.119461243C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698964C>T" "" "VUS" "" "0000466806" "1" "50" "9" "119460111" "119460111" "subst" "0.000105615" "00430" "TRIM32_000039" "g.119460111G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116697832G>A" "" "VUS" "" "0000466807" "1" "50" "9" "119460111" "119460111" "subst" "0.000105615" "00430" "TRIM32_000039" "g.119460111G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116697832G>A" "" "VUS" "" "0000466808" "1" "50" "9" "119460518" "119460518" "subst" "3.25026E-5" "00430" "TRIM32_000027" "g.119460518G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698239G>A" "" "VUS" "" "0000466809" "1" "50" "9" "119461025" "119461025" "subst" "1.62559E-5" "00430" "TRIM32_000057" "g.119461025G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698746G>A" "" "VUS" "" "0000466810" "1" "50" "9" "119461072" "119461072" "subst" "0" "00430" "TRIM32_000058" "g.119461072A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698793A>G" "" "VUS" "" "0000466811" "1" "50" "9" "119460517" "119460517" "subst" "4.06322E-5" "00430" "TRIM32_000047" "g.119460517C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698238C>T" "" "VUS" "" "0000466812" "1" "50" "9" "119460501" "119460501" "subst" "0.000170626" "00430" "TRIM32_000014" "g.119460501G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698222G>A" "" "VUS" "" "0000466813" "3" "50" "9" "119461676" "119461676" "subst" "0" "00430" "TRIM32_000070" "g.119461676T>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "variant apparently homozygous" "Germline" "" "" "0" "" "" "g.116699397T>G" "" "VUS" "" "0000466814" "1" "50" "9" "119461183" "119461183" "subst" "4.06329E-6" "00430" "TRIM32_000061" "g.119461183G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698904G>A" "" "VUS" "" "0000466815" "1" "50" "9" "119461243" "119461243" "subst" "0.00149888" "00430" "TRIM32_000032" "g.119461243C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698964C>T" "" "VUS" "" "0000466816" "1" "50" "9" "119461114" "119461114" "subst" "0" "00430" "TRIM32_000059" "g.119461114G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698835G>A" "" "VUS" "" "0000466817" "1" "50" "9" "119461243" "119461243" "subst" "0.00149888" "00430" "TRIM32_000032" "g.119461243C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.116698964C>T" "" "VUS" "" "0000536120" "0" "30" "9" "119413990" "119413990" "subst" "0.00152517" "01804" "ASTN2_000019" "g.119413990C>T" "" "" "" "ASTN2(NM_001184734.1):c.45G>A (p.(Met15Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116651711C>T" "" "likely benign" "" "0000536121" "0" "30" "9" "119449030" "119449030" "subst" "0.000291857" "01804" "ASTN2_000020" "g.119449030T>C" "" "" "" "ASTN2(NM_198186.3):c.55A>G (p.(Ser19Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116686751T>C" "" "likely benign" "" "0000536122" "0" "10" "9" "119460222" "119460222" "subst" "0.000113753" "02330" "ASTN2_000021" "g.119460222T>C" "" "" "" "ASTN2(NM_014010.5):c.2653+27828A>G, TRIM32(NM_012210.4):c.201T>C (p.I67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116697943T>C" "" "benign" "" "0000536124" "0" "30" "9" "119460297" "119460297" "subst" "0.000243962" "01943" "TRIM32_000023" "g.119460297C>T" "" "" "" "ASTN2(NM_014010.5):c.2653+27753G>A, TRIM32(NM_001099679.1):c.276C>T (p.(Ser92=)), TRIM32(NM_012210.3):c.276C>T (p.S92=), TRIM32(NM_012210.4):c.276C..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116698018C>T" "" "likely benign" "" "0000536125" "0" "50" "9" "119460297" "119460297" "subst" "0.000243962" "01804" "TRIM32_000023" "g.119460297C>T" "" "" "" "ASTN2(NM_014010.5):c.2653+27753G>A, TRIM32(NM_001099679.1):c.276C>T (p.(Ser92=)), TRIM32(NM_012210.3):c.276C>T (p.S92=), TRIM32(NM_012210.4):c.276C..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116698018C>T" "" "VUS" "" "0000536127" "0" "30" "9" "119460425" "119460425" "subst" "0.000183605" "01804" "ASTN2_000022" "g.119460425C>T" "" "" "" "TRIM32(NM_001099679.1):c.404C>T (p.(Thr135Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116698146C>T" "" "likely benign" "" "0000536129" "0" "50" "9" "119460542" "119460542" "subst" "0.000186869" "02330" "TRIM32_000029" "g.119460542C>T" "" "" "" "TRIM32(NM_001099679.1):c.521C>T (p.(Ser174Phe)), TRIM32(NM_012210.3):c.521C>T (p.S174F), TRIM32(NM_012210.4):c.521C>T (p.S174F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116698263C>T" "" "VUS" "" "0000536130" "0" "50" "9" "119460579" "119460579" "subst" "0.0018977" "02330" "TRIM32_000030" "g.119460579G>C" "" "" "" "ASTN2(NM_014010.5):c.2653+27471C>G, TRIM32(NM_001099679.1):c.558G>C (p.Q186H, p.(Gln186His)), TRIM32(NM_012210.3):c.558G>C (p.Q186H), TRIM32(NM_01...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116698300G>C" "" "VUS" "" "0000536131" "0" "50" "9" "119460579" "119460579" "subst" "0.0018977" "01943" "TRIM32_000030" "g.119460579G>C" "" "" "" "ASTN2(NM_014010.5):c.2653+27471C>G, TRIM32(NM_001099679.1):c.558G>C (p.Q186H, p.(Gln186His)), TRIM32(NM_012210.3):c.558G>C (p.Q186H), TRIM32(NM_01...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116698300G>C" "" "VUS" "" "0000536132" "0" "30" "9" "119460579" "119460579" "subst" "0.0018977" "02326" "TRIM32_000030" "g.119460579G>C" "" "" "" "ASTN2(NM_014010.5):c.2653+27471C>G, TRIM32(NM_001099679.1):c.558G>C (p.Q186H, p.(Gln186His)), TRIM32(NM_012210.3):c.558G>C (p.Q186H), TRIM32(NM_01...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116698300G>C" "" "likely benign" "" "0000536135" "0" "30" "9" "119460791" "119460791" "subst" "0.000707041" "02330" "TRIM32_000002" "g.119460791C>G" "" "" "" "ASTN2(NM_014010.5):c.2653+27259G>C, TRIM32(NM_012210.4):c.770C>G (p.T257R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116698512C>G" "" "likely benign" "" "0000536136" "0" "30" "9" "119460832" "119460832" "subst" "2.03183E-5" "02326" "ASTN2_000025" "g.119460832C>G" "" "" "" "TRIM32(NM_012210.3):c.811C>G (p.R271G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116698553C>G" "" "likely benign" "" "0000536139" "0" "10" "9" "119461176" "119461176" "subst" "1.62503E-5" "02330" "ASTN2_000028" "g.119461176A>C" "" "" "" "TRIM32(NM_012210.4):c.1155A>C (p.V385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116698897A>C" "" "benign" "" "0000536140" "0" "50" "9" "119461243" "119461243" "subst" "0.00149888" "02330" "TRIM32_000032" "g.119461243C>T" "" "" "" "TRIM32(NM_001379048.1):c.1222C>T (p.R408C), TRIM32(NM_012210.3):c.1222C>T (p.R408C), TRIM32(NM_012210.4):c.1222C>T (p.R408C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116698964C>T" "" "VUS" "" "0000536142" "0" "70" "9" "119461480" "119461480" "subst" "8.12354E-6" "01943" "TRIM32_000001" "g.119461480G>A" "" "" "" "TRIM32(NM_012210.3):c.1459G>A (p.D487N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116699201G>A" "" "likely pathogenic" "" "0000604581" "3" "50" "9" "119460509" "119460509" "subst" "2.43764E-5" "01164" "TRIM32_000078" "g.119460509T>C" "" "" "" "" "ACMG grading: PM2, PP3" "Germline" "" "rs775940650" "0" "" "" "g.116698230T>C" "" "VUS" "ACMG" "0000611829" "0" "30" "9" "119460300" "119460300" "subst" "0" "01943" "ASTN2_000032" "g.119460300G>A" "" "" "" "TRIM32(NM_012210.3):c.279G>A (p.E93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116698021G>A" "" "likely benign" "" "0000652587" "1" "50" "9" "119461202" "119461202" "subst" "3.65785E-5" "03575" "TRIM32_000009" "g.119461202G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs121434447}" "Germline" "" "rs121434447" "0" "" "" "g.116698923G>A" "" "VUS" "" "0000670807" "3" "90" "9" "119461142" "119461142" "subst" "0" "00006" "TRIM32_000079" "g.119461142C>T" "" "{PMID:Yu 2017:28403181}" "" "" "" "Germline" "" "" "0" "" "" "g.116698863C>T" "" "pathogenic (recessive)" "" "0000678514" "0" "50" "9" "119460488" "119460488" "subst" "6.09484E-5" "01943" "TRIM32_000021" "g.119460488T>C" "" "" "" "TRIM32(NM_012210.3):c.467T>C (p.L156P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690387" "0" "10" "9" "119449609" "119449609" "subst" "0" "02327" "ASTN2_000035" "g.119449609G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000697218" "1" "30" "9" "119460027" "119460027" "" "0" "00006" "TRIM32_000081" "g.119460027T>V" "" "{PMID:Johnson 2019:29921608}" "" "" "" "Germline" "" "" "0" "" "" "g.116697748T>V" "" "likely benign" "" "0000697219" "1" "50" "9" "119460338" "119460338" "subst" "4.07043E-6" "00006" "TRIM32_000085" "g.119460338G>A" "" "{PMID:Johnson 2019:29921608}" "" "" "" "Germline" "" "" "0" "" "" "g.116698059G>A" "" "VUS" "" "0000697220" "1" "30" "9" "119460351" "119460351" "subst" "5.29463E-5" "00006" "TRIM32_000086" "g.119460351A>G" "" "{PMID:Johnson 2019:29921608}" "" "" "" "Germline" "" "" "0" "" "" "g.116698072A>G" "" "likely benign" "" "0000697221" "1" "50" "9" "119460425" "119460425" "subst" "0.000183605" "00006" "ASTN2_000022" "g.119460425C>T" "" "{PMID:Johnson 2019:29921608}" "" "" "" "Germline" "" "" "0" "" "" "g.116698146C>T" "" "VUS" "" "0000697222" "1" "50" "9" "119460518" "119460518" "subst" "3.25026E-5" "00006" "TRIM32_000027" "g.119460518G>A" "" "{PMID:Johnson 2019:29921608}" "" "" "" "Germline" "" "" "0" "" "" "g.116698239G>A" "" "VUS" "" "0000697223" "1" "50" "9" "119460542" "119460542" "subst" "0.000186869" "00006" "TRIM32_000029" "g.119460542C>T" "" "{PMID:Johnson 2019:29921608}" "" "" "" "Germline" "" "" "0" "" "" "g.116698263C>T" "" "VUS" "" "0000697224" "1" "50" "9" "119460542" "119460542" "subst" "0.000186869" "00006" "TRIM32_000029" "g.119460542C>T" "" "{PMID:Johnson 2019:29921608}" "" "" "" "Germline" "" "" "0" "" "" "g.116698263C>T" "" "VUS" "" "0000697225" "1" "50" "9" "119460542" "119460542" "subst" "0.000186869" "00006" "TRIM32_000029" "g.119460542C>T" "" "{PMID:Johnson 2019:29921608}" "" "" "" "Germline" "" "" "0" "" "" "g.116698263C>T" "" "VUS" "" "0000697226" "1" "50" "9" "119460579" "119460579" "subst" "0.0018977" "00006" "TRIM32_000030" "g.119460579G>C" "" "{PMID:Johnson 2019:29921608}" "" "" "" "Germline" "" "" "0" "" "" "g.116698300G>C" "" "VUS" "" "0000697227" "1" "50" "9" "119460579" "119460579" "subst" "0.0018977" "00006" "TRIM32_000030" "g.119460579G>C" "" "{PMID:Johnson 2019:29921608}" "" "" "" "Germline" "" "" "0" "" "" "g.116698300G>C" "" "VUS" "" "0000697228" "1" "50" "9" "119460579" "119460579" "subst" "0.0018977" "00006" "TRIM32_000030" "g.119460579G>C" "" "{PMID:Johnson 2019:29921608}" "" "" "" "Germline" "" "" "0" "" "" "g.116698300G>C" "" "VUS" "" "0000697229" "1" "50" "9" "119460922" "119460922" "subst" "0" "00006" "TRIM32_000091" "g.119460922G>A" "" "{PMID:Johnson 2019:29921608}" "" "" "" "Germline" "" "" "0" "" "" "g.116698643G>A" "" "VUS" "" "0000697230" "1" "50" "9" "119461113" "119461113" "" "0" "00006" "TRIM32_000082" "g.119461113A>Y" "" "{PMID:Johnson 2019:29921608}" "" "" "" "Germline" "" "" "0" "" "" "g.116698834A>Y" "" "VUS" "" "0000697231" "1" "30" "9" "119461212" "119461212" "" "0" "00006" "TRIM32_000083" "g.119461212C>D" "" "{PMID:Johnson 2019:29921608}" "" "" "" "Germline" "" "" "0" "" "" "g.116698933C>D" "" "likely benign" "" "0000697232" "1" "50" "9" "119461217" "119461217" "subst" "4.06653E-6" "00006" "TRIM32_000094" "g.119461217C>T" "" "{PMID:Johnson 2019:29921608}" "" "" "" "Germline" "" "" "0" "" "" "g.116698938C>T" "" "VUS" "" "0000697233" "1" "50" "9" "119461243" "119461243" "subst" "0.00149888" "00006" "TRIM32_000032" "g.119461243C>T" "" "{PMID:Johnson 2019:29921608}" "" "" "" "Germline" "" "" "0" "" "" "g.116698964C>T" "" "VUS" "" "0000697234" "1" "50" "9" "119461243" "119461243" "subst" "0.00149888" "00006" "TRIM32_000032" "g.119461243C>T" "" "{PMID:Johnson 2019:29921608}" "" "" "" "Germline" "" "" "0" "" "" "g.116698964C>T" "" "VUS" "" "0000697235" "1" "50" "9" "119461244" "119461244" "subst" "8.96101E-5" "00006" "TRIM32_000096" "g.119461244G>A" "" "{PMID:Johnson 2019:29921608}" "" "" "" "Germline" "" "" "0" "" "" "g.116698965G>A" "" "VUS" "" "0000697236" "1" "30" "9" "119461407" "119461407" "" "0" "00006" "TRIM32_000084" "g.119461407G>H" "" "{PMID:Johnson 2019:29921608}" "" "" "" "Germline" "" "" "0" "" "" "g.116699128G>H" "" "likely benign" "" "0000697237" "1" "50" "9" "119461478" "119461478" "subst" "0" "00006" "TRIM32_000097" "g.119461478C>T" "" "{PMID:Johnson 2019:29921608}" "" "" "" "Germline" "" "" "0" "" "" "g.116699199C>T" "" "VUS" "" "0000697238" "1" "90" "9" "119461480" "119461480" "subst" "8.12354E-6" "00006" "TRIM32_000001" "g.119461480G>A" "" "{PMID:Johnson 2019:29921608}, {PMID:Topf 2020:32528171}" "" "" "" "Germline" "" "" "0" "" "" "g.116699201G>A" "" "pathogenic (recessive)" "" "0000697239" "1" "90" "9" "119461480" "119461480" "subst" "8.12354E-6" "00006" "TRIM32_000001" "g.119461480G>A" "" "{PMID:Johnson 2019:29921608}, {PMID:Topf 2020:32528171}" "" "" "" "Germline" "" "" "0" "" "" "g.116699201G>A" "" "pathogenic (recessive)" "" "0000697240" "1" "90" "9" "119461480" "119461480" "subst" "8.12354E-6" "00006" "TRIM32_000001" "g.119461480G>A" "" "{PMID:Johnson 2019:29921608}, {PMID:Topf 2020:32528171}" "" "" "" "Germline" "" "" "0" "" "" "g.116699201G>A" "" "pathogenic (recessive)" "" "0000697241" "1" "90" "9" "119461480" "119461480" "subst" "8.12354E-6" "00006" "TRIM32_000001" "g.119461480G>A" "" "{PMID:Johnson 2019:29921608}, {PMID:Topf 2020:32528171}" "" "" "" "Germline" "" "" "0" "" "" "g.116699201G>A" "" "pathogenic (recessive)" "" "0000697242" "1" "50" "9" "119461792" "119461792" "subst" "2.03092E-5" "00006" "TRIM32_000098" "g.119461792G>A" "" "{PMID:Johnson 2019:29921608}" "" "" "" "Germline" "" "" "0" "" "" "g.116699513G>A" "" "VUS" "" "0000697243" "1" "50" "9" "119461792" "119461792" "subst" "2.03092E-5" "00006" "TRIM32_000098" "g.119461792G>A" "" "{PMID:Johnson 2019:29921608}" "" "" "" "Germline" "" "" "0" "" "" "g.116699513G>A" "" "VUS" "" "0000697244" "3" "90" "9" "119460480" "119460483" "dup" "0" "00006" "TRIM32_000087" "g.119460480_119460483dup" "" "{PMID:Johnson 2019:29921608}, {PMID:Topf 2020:32528171}" "" "" "disease associated with variant in other gene" "Germline" "" "" "0" "" "" "g.116698201_116698204dup" "" "pathogenic (recessive)" "" "0000697245" "3" "50" "9" "119460579" "119460579" "subst" "0.0018977" "00006" "TRIM32_000030" "g.119460579G>C" "" "{PMID:Johnson 2019:29921608}" "" "" "disease associated with variant in CAPN3 (homozygous)" "Germline" "" "" "0" "" "" "g.116698300G>C" "" "VUS" "" "0000697246" "1" "90" "9" "119460595" "119460595" "dup" "0" "00006" "TRIM32_000088" "g.119460595dup" "" "{PMID:Johnson 2019:29921608}, {PMID:Topf 2020:32528171}" "" "" "" "Germline" "" "" "0" "" "" "g.116698316dup" "" "pathogenic (recessive)" "" "0000697247" "1" "90" "9" "119460595" "119460595" "dup" "0" "00006" "TRIM32_000088" "g.119460595dup" "" "{PMID:Johnson 2019:29921608}, {PMID:Topf 2020:32528171}" "" "" "" "Germline" "" "" "0" "" "" "g.116698316dup" "" "pathogenic (recessive)" "" "0000697248" "3" "50" "9" "119460893" "119460893" "subst" "0" "00006" "TRIM32_000090" "g.119460893T>G" "" "{PMID:Johnson 2019:29921608}" "" "" "" "Germline" "" "" "0" "" "" "g.116698614T>G" "" "VUS" "" "0000697249" "1" "50" "9" "119460944" "119460944" "subst" "4.0663E-6" "00006" "TRIM32_000092" "g.119460944C>T" "" "{PMID:Johnson 2019:29921608}" "" "" "disease associated with variant in DES (heterozygous)" "Germline" "" "" "0" "" "" "g.116698665C>T" "" "VUS" "" "0000697250" "3" "90" "9" "119461480" "119461480" "subst" "8.12354E-6" "00006" "TRIM32_000001" "g.119461480G>A" "" "{PMID:Johnson 2019:29921608}, {PMID:Topf 2020:32528171}" "" "" "" "Germline" "" "" "0" "" "" "g.116699201G>A" "" "pathogenic (recessive)" "" "0000697251" "3" "90" "9" "119461480" "119461480" "subst" "8.12354E-6" "00006" "TRIM32_000001" "g.119461480G>A" "" "{PMID:Johnson 2019:29921608}, {PMID:Topf 2020:32528171}" "" "" "" "Germline" "" "" "0" "" "" "g.116699201G>A" "" "pathogenic (recessive)" "" "0000697252" "3" "70" "9" "119461807" "119461807" "subst" "4.06237E-6" "00006" "TRIM32_000099" "g.119461807C>G" "" "{PMID:Johnson 2019:29921608}, {PMID:Topf 2020:32528171}" "" "" "" "Germline" "" "" "0" "" "" "g.116699528C>G" "" "likely pathogenic (recessive)" "" "0000697253" "1" "90" "9" "119461858" "119461858" "subst" "4.8763E-5" "00006" "TRIM32_000100" "g.119461858C>T" "" "{PMID:Johnson 2019:29921608}, {PMID:Topf 2020:32528171}" "" "" "" "Germline" "" "" "0" "" "" "g.116699579C>T" "" "pathogenic (recessive)" "" "0000697254" "1" "90" "9" "119460712" "119460712" "del" "2.03125E-5" "00006" "TRIM32_000051" "g.119460712del" "" "{PMID:Johnson 2019:29921608}" "" "" "" "Germline" "" "" "0" "" "" "g.116698433del" "" "pathogenic (recessive)" "" "0000697255" "3" "70" "9" "119460509" "119460509" "subst" "2.43764E-5" "00006" "TRIM32_000078" "g.119460509T>C" "" "{PMID:Johnson 2019:29921608}" "" "" "" "Germline" "" "" "0" "" "" "g.116698230T>C" "" "likely pathogenic (recessive)" "" "0000697256" "3" "70" "9" "119461202" "119461202" "subst" "3.65785E-5" "00006" "TRIM32_000009" "g.119461202G>A" "" "{PMID:Johnson 2019:29921608}" "" "" "" "Germline" "" "" "0" "" "" "g.116698923G>A" "" "likely pathogenic (recessive)" "" "0000697257" "3" "70" "9" "119460509" "119460509" "subst" "2.43764E-5" "00006" "TRIM32_000078" "g.119460509T>C" "" "{PMID:Johnson 2019:29921608}" "" "" "" "Germline" "" "" "0" "" "" "g.116698230T>C" "" "likely pathogenic (recessive)" "" "0000697258" "3" "50" "9" "119460733" "119460733" "subst" "1.62499E-5" "00006" "TRIM32_000089" "g.119460733C>T" "" "{PMID:Johnson 2019:29921608}" "" "" "disease associated with variant in other gene" "Germline" "" "" "0" "" "" "g.116698454C>T" "" "VUS" "" "0000697259" "2" "90" "9" "119461184" "119461184" "subst" "0" "00006" "TRIM32_000093" "g.119461184C>T" "" "{PMID:Johnson 2019:29921608}, {PMID:Topf 2020:32528171}" "" "" "" "Germline" "" "" "0" "" "" "g.116698905C>T" "" "pathogenic (recessive)" "" "0000697260" "2" "90" "9" "119461184" "119461184" "subst" "0" "00006" "TRIM32_000093" "g.119461184C>T" "" "{PMID:Johnson 2019:29921608}, {PMID:Topf 2020:32528171}" "" "" "" "Germline" "" "" "0" "" "" "g.116698905C>T" "" "pathogenic (recessive)" "" "0000697261" "2" "90" "9" "119461222" "119461222" "subst" "4.06626E-6" "00006" "TRIM32_000095" "g.119461222A>T" "" "{PMID:Johnson 2019:29921608}" "" "" "disease associated with variant in DES (heterozygous)" "Germline" "" "" "0" "" "" "g.116698943A>T" "" "pathogenic (recessive)" "" "0000697262" "2" "90" "9" "119453455" "119516944" "del" "0" "00006" "TRIM32_000080" "g.(?_119453455)_(119516944_?)del" "" "{PMID:Johnson 2019:29921608}, {PMID:Topf 2020:32528171}" "" "" "" "Germline" "" "" "0" "" "" "g.(?_116691176)_(116754665_?)del" "" "pathogenic (recessive)" "" "0000697751" "0" "70" "9" "119460733" "119460733" "subst" "1.62499E-5" "00006" "TRIM32_000089" "g.119460733C>T" "2/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.116698454C>T" "" "likely pathogenic" "" "0000697752" "0" "70" "9" "119460893" "119460893" "subst" "0" "00006" "TRIM32_000090" "g.119460893T>G" "2/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.116698614T>G" "" "likely pathogenic" "" "0000722231" "0" "70" "9" "119461129" "119461129" "del" "0" "01804" "ASTN2_000036" "g.119461129del" "" "" "" "TRIM32(NM_001099679.1):c.1108del (p.(Met370Cysfs*10))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000760013" "0" "50" "9" "119460335" "119460335" "subst" "0" "00000" "ASTN2_000037" "g.119460335G>T" "" "{PMID:Tiwari 2016:27353947}" "" "NM_001099679.1:c.314G>T" "" "Germline" "" "" "0" "" "" "g.116698056G>T" "" "VUS" "" "0000760021" "0" "50" "9" "119460579" "119460579" "subst" "0.0018977" "00000" "TRIM32_000030" "g.119460579G>C" "" "{PMID:Tiwari 2016:27353947}" "" "NM_001099679.1:c.558G>C" "" "Germline" "" "" "0" "" "" "g.116698300G>C" "" "VUS" "" "0000798441" "0" "70" "9" "119461243" "119461243" "subst" "0.00149888" "00000" "TRIM32_000032" "g.119461243C>T" "" "{PMID:Song-2011:22025579}" "" "c.1222C>T" "" "Unknown" "" "rs3747835" "0" "" "" "" "" "likely pathogenic" "" "0000803846" "0" "50" "9" "119460709" "119460709" "subst" "3.24979E-5" "01943" "ASTN2_000038" "g.119460709A>G" "" "" "" "TRIM32(NM_012210.3):c.688A>G (p.I230V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810987" "3" "70" "9" "119460743" "119460743" "subst" "0" "00000" "TRIM32_000101" "g.119460743A>G" "" "{PMID:Sathya Priya-2015:24400638}" "" "c.722A>G" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000813232" "0" "50" "9" "119462212" "119462212" "subst" "0" "00000" "TRIM32_000103" "g.119462212C>T" "" "{PMID:Abu-Safieh-2012:22353939}, Abu-Safieh 2010" "" "c.*229C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000814250" "0" "70" "9" "119460917" "119460917" "subst" "3.25362E-5" "00000" "TRIM32_000102" "g.119460917G>A" "" "{PMID:Deveault-2011:21344540}" "" "C91fsX95/L348fsX360" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000819218" "3" "50" "9" "119460080" "119460080" "subst" "0" "00006" "TRIM32_000104" "g.119460080G>T" "" "{PMID:Chakravorty 2020:33250842}" "" "" "" "Germline" "" "" "0" "" "" "g.116697801G>T" "" "VUS" "ACMG" "0000845919" "0" "70" "9" "119460488" "119460488" "subst" "6.09484E-5" "00000" "TRIM32_000021" "g.119460488T>C" "" "{PMID:Kang 2016:27491411}" "" "TRIM32/BBS11 c.467T>C, p.Leu156Pro" "single heterozygous variant in a recessive disease; no second causative allele found" "Unknown" "?" "" "0" "" "" "g.116698209T>C" "" "likely pathogenic" "" "0000852075" "0" "50" "9" "119460517" "119460517" "subst" "4.06322E-5" "02327" "TRIM32_000047" "g.119460517C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852076" "0" "50" "9" "119460860" "119460860" "subst" "0" "01943" "ASTN2_000041" "g.119460860T>A" "" "" "" "TRIM32(NM_012210.3):c.839T>A (p.L280H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852077" "0" "50" "9" "119461219" "119461219" "subst" "4.06653E-6" "02327" "ASTN2_000042" "g.119461219C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861362" "0" "50" "9" "119460022" "119460022" "subst" "0" "02330" "ASTN2_000039" "g.119460022A>G" "" "" "" "TRIM32(NM_012210.4):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861363" "0" "50" "9" "119460628" "119460628" "subst" "4.06587E-6" "01804" "ASTN2_000024" "g.119460628C>T" "" "" "" "TRIM32(NM_001099679.1):c.607C>T (p.(Arg203Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861364" "0" "50" "9" "119460764" "119460764" "subst" "0" "01804" "ASTN2_000040" "g.119460764A>C" "" "" "" "TRIM32(NM_012210.3):c.743A>C (p.(Gln248Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861365" "0" "50" "9" "119461748" "119461748" "subst" "1.21841E-5" "01804" "ASTN2_000043" "g.119461748G>A" "" "" "" "TRIM32(NM_001099679.1):c.1727G>A (p.(Arg576His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997468" "0" "50" "9" "119738466" "119738466" "subst" "0" "01804" "ASTN2_000045" "g.119738466G>A" "" "" "" "ASTN2(NM_014010.4):c.1525C>T (p.(Pro509Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014492" "0" "30" "9" "119460522" "119460522" "subst" "2.84377E-5" "01804" "TRIM32_000028" "g.119460522G>A" "" "" "" "TRIM32(NM_001099679.1):c.501G>A (p.(Lys167=)), TRIM32(NM_012210.3):c.501G>A (p.K167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025573" "0" "90" "9" "119460563" "119460564" "ins" "0" "02326" "ASTN2_000046" "g.119460563_119460564insAAAGGTA" "" "" "" "TRIM32(NM_012210.3):c.542_543insAAAGGTA (p.Y181*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001037153" "0" "30" "9" "119459650" "119459650" "subst" "0" "01804" "ASTN2_000047" "g.119459650A>G" "" "" "" "TRIM32(NM_001379048.1):c.-142-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037154" "0" "30" "9" "119460359" "119460359" "subst" "1.63011E-5" "01804" "ASTN2_000048" "g.119460359G>A" "" "" "" "TRIM32(NM_001099679.1):c.338G>A (p.(Arg113Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037155" "0" "50" "9" "119460916" "119460916" "subst" "8.13405E-6" "01804" "ASTN2_000049" "g.119460916C>T" "" "" "" "TRIM32(NM_012210.4):c.895C>T (p.(Arg299Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046172" "0" "30" "9" "119460027" "119460027" "subst" "0.000211317" "01804" "ASTN2_000050" "g.119460027T>G" "" "" "" "TRIM32(NM_001099679.1):c.6T>G (p.(Ala2=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053332" "0" "50" "9" "119460542" "119460542" "subst" "0.000186869" "01804" "TRIM32_000029" "g.119460542C>T" "" "" "" "TRIM32(NM_001099679.1):c.521C>T (p.(Ser174Phe)), TRIM32(NM_012210.3):c.521C>T (p.S174F), TRIM32(NM_012210.4):c.521C>T (p.S174F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001069113" "3" "50" "9" "119460509" "119460509" "subst" "2.43764E-5" "00006" "TRIM32_000078" "g.119460509T>C" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.116698230T>C" "SCV006075374" "VUS" "ACMG" "0001069180" "3" "70" "9" "119461527" "119461527" "del" "4.06085E-6" "00006" "TRIM32_000105" "g.119461527del" "" "{PMID:Molaei 2025:41315541}" "" "1506delA" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.116699248del" "SCV006075328" "likely pathogenic" "ACMG" "0001069387" "3" "70" "9" "119461590" "119461590" "dup" "0" "00006" "TRIM32_000106" "g.119461590dup" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1_VS, PM2_mod" "Germline" "" "" "0" "" "" "g.116699311dup" "SCV006075329" "likely pathogenic" "ACMG" "0001069721" "3" "50" "9" "119460509" "119460509" "subst" "2.43764E-5" "00006" "TRIM32_000078" "g.119460509T>C" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.116698230T>C" "SCV006075374" "VUS" "ACMG" "0001072530" "3" "70" "9" "119460346" "119460346" "del" "0" "00006" "TRIM32_000107" "g.119460346del" "" "{PMID:Zidkova 2023:37526466}" "" "" "ACMG PVS1, PM2, PM3" "Germline" "" "" "0" "" "" "g.116698067del" "" "likely pathogenic (recessive)" "" "0001072531" "3" "90" "9" "119461480" "119461480" "subst" "8.12354E-6" "00006" "TRIM32_000001" "g.119461480G>A" "" "{PMID:Zidkova 2023:37526466}" "" "" "" "Germline" "" "" "0" "" "" "g.116699201G>A" "" "pathogenic (recessive)" "" "0001076247" "1" "90" "9" "119460488" "119460488" "subst" "6.09484E-5" "00006" "TRIM32_000021" "g.119460488T>C" "" "{PMID:Mair 2020:32419263}" "" "" "" "Germline" "yes" "rs145907585" "0" "" "" "g.116698209T>C" "" "pathogenic (recessive)" "" "0001076248" "1" "90" "9" "119460488" "119460488" "subst" "6.09484E-5" "00006" "TRIM32_000021" "g.119460488T>C" "" "{PMID:Mair 2020:32419263}" "" "" "" "Germline" "yes" "rs145907585" "0" "" "" "g.116698209T>C" "" "pathogenic (recessive)" "" "0001076274" "2" "90" "9" "119459940" "119463579" "del" "0" "00006" "TRIM32_000108" "g.(119449661_119459940)_(119463579_?)del" "" "{PMID:Mair 2020:32419263}" "" "del ex2" "" "Germline" "yes" "" "0" "" "" "g.(116687382_116697661)_(116701300_?)del" "" "pathogenic (recessive)" "" "0001076275" "2" "90" "9" "119459940" "119463579" "del" "0" "00006" "TRIM32_000108" "g.(119449661_119459940)_(119463579_?)del" "" "{PMID:Mair 2020:32419263}" "" "del ex2" "" "Germline" "yes" "" "0" "" "" "g.(116687382_116697661)_(116701300_?)del" "" "pathogenic (recessive)" "" "0001077335" "3" "90" "9" "119461480" "119461480" "subst" "8.12354E-6" "00006" "TRIM32_000001" "g.119461480G>A" "" "{PMID:Nallamilli 2023:37688281}" "" "" "" "Germline" "" "" "0" "" "" "g.116699201G>A" "" "pathogenic (recessive)" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes TRIM32 ## Count = 238 "{{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}}" "0000246809" "00021818" "10" "1530" "0" "1530" "0" "c.1530A>G" "r.(?)" "p.(Leu510=)" "" "0000258402" "00021818" "50" "276" "0" "276" "0" "c.276C>T" "r.(?)" "p.(Ser92=)" "" "0000309515" "00021818" "10" "1191" "0" "1191" "0" "c.1191C>G" "r.(?)" "p.(Val397=)" "" "0000309516" "00021818" "10" "1254" "0" "1254" "0" "c.1254G>A" "r.(?)" "p.(Val418=)" "" "0000313503" "00021818" "50" "1787" "0" "1787" "0" "c.1787G>A" "r.(?)" "p.(Arg596His)" "" "0000314820" "00021818" "10" "479" "0" "479" "0" "c.479T>C" "r.(?)" "p.(Met160Thr)" "" "0000314821" "00021818" "30" "521" "0" "521" "0" "c.521C>T" "r.(?)" "p.(Ser174Phe)" "" "0000317046" "00021818" "50" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Cys)" "" "0000317047" "00021818" "10" "1254" "0" "1254" "0" "c.1254G>A" "r.(?)" "p.(Val418=)" "" "0000317048" "00021818" "50" "1861" "0" "1861" "0" "c.1861G>A" "r.(?)" "p.(Gly621Ser)" "" "0000317049" "00021818" "50" "382" "0" "382" "0" "c.382C>T" "r.(?)" "p.(His128Tyr)" "" "0000317050" "00021818" "50" "497" "0" "497" "0" "c.497G>A" "r.(?)" "p.(Arg166Gln)" "" "0000317051" "00021818" "30" "501" "0" "501" "0" "c.501G>A" "r.(?)" "p.(Lys167=)" "" "0000332759" "00021818" "50" "-261524" "0" "-261524" "0" "c.-261524T>C" "r.(?)" "p.(=)" "" "0000332760" "00021818" "50" "479" "0" "480" "0" "c.479_480insA" "r.(?)" "p.(Met160IlefsTer23)" "" "0000332761" "00021818" "50" "497" "0" "497" "0" "c.497G>A" "r.(?)" "p.(Arg166Gln)" "" "0000332762" "00021818" "50" "558" "0" "558" "0" "c.558G>C" "r.(?)" "p.(Gln186His)" "" "0000332765" "00021818" "50" "516937" "0" "516937" "0" "c.*514975G>A" "r.(=)" "p.(=)" "" "0000332766" "00021818" "50" "716920" "0" "716925" "0" "c.*714958_*714963dup" "r.(=)" "p.(=)" "" "0000439764" "00021818" "50" "467" "0" "467" "0" "c.467T>C" "r.(?)" "p.Leu156Pro" "" "0000440069" "00021818" "50" "1142" "0" "1142" "0" "c.1142G>A" "r.(?)" "p.Ser381Asn" "" "0000447004" "00021818" "90" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Asp487Asn)" "2" "0000447005" "00021818" "90" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Asp487Asn)" "2" "0000447006" "00021818" "90" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Asp487Asn)" "2" "0000447007" "00021818" "90" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Asp487Asn)" "2" "0000447008" "00021818" "90" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Asp487Asn)" "2" "0000447009" "00021818" "90" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Asp487Asn)" "2" "0000447010" "00021818" "90" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Pro130Ser)" "2" "0000447011" "00021818" "90" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Pro130Ser)" "2" "0000447012" "00021818" "90" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Arg394His)" "2" "0000447013" "00021818" "90" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Arg394His)" "2" "0000447014" "00021818" "90" "1762" "0" "1764" "0" "c.1762_1764del" "r.(?)" "p.(Asp588del)" "2" "0000447015" "00021818" "90" "1560" "0" "1560" "0" "c.1560del" "r.(?)" "p.(Cys521Valfs*13)" "2" "0000447016" "00021818" "90" "1560" "0" "1560" "0" "c.1560del" "r.(?)" "p.(Cys521Valfs*13)" "2" "0000447017" "00021818" "90" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Arg394His)" "2" "0000447018" "00021818" "90" "1753" "0" "1766" "0" "c.1753_1766dup" "r.(?)" "p.(Ile590Leufs*38)" "2" "0000447019" "00021818" "90" "1753" "0" "1766" "0" "c.1753_1766dup" "r.(?)" "p.(Ile590Leufs*38)" "2" "0000447020" "00021818" "50" "339" "0" "339" "0" "c.339G>C" "r.(?)" "p.(=)" "2" "0000447021" "00021818" "50" "480" "0" "480" "0" "c.480G>A" "r.(?)" "p.(Met160Ile)" "2" "0000447022" "00021818" "10" "1254" "0" "1254" "0" "c.1254G>A" "r.(?)" "p.(=)" "2" "0000447023" "00021818" "90" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Asp487Asn)" "2" "0000447024" "00021818" "10" "627" "18" "627" "18" "c.627+18T>G" "r.(?)" "p.(=)" "5i" "0000447025" "00021818" "10" "651" "0" "651" "0" "c.651T>C" "r.(?)" "p.(=)" "6" "0000447027" "00021818" "90" "1603" "0" "1603" "0" "c.1603del" "r.(?)" "p.(Leu535Serfs*21)" "2" "0000447028" "00021818" "90" "0" "0" "0" "0" "c.(?-161)_(*1596_?)del" "r.0" "p.0" "_1_2_" "0000447030" "00021818" "90" "-161" "0" "3558" "0" "c.(?_-161)_(*1596_?)del" "r.0" "p.0" "_1_2_" "0000447031" "00021818" "10" "2551" "0" "2551" "0" "c.*589G>A" "r.(?)" "p.(=)" "2" "0000447032" "00021818" "10" "770" "0" "770" "0" "c.770C>G" "r.(?)" "p.(Thr257Arg)" "2" "0000447033" "00021818" "10" "1254" "0" "1254" "0" "c.1254G>A" "r.1254g>a" "p.=" "2" "0000447034" "00021818" "10" "1815" "0" "1815" "0" "c.1815T>C" "r.1805u>c" "p.=" "2" "0000447035" "00021818" "10" "2091" "0" "2091" "0" "c.*129C>T" "r.2091u>c" "p.=" "2" "0000447036" "00021818" "90" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Asp487Asn)" "2" "0000447037" "00021818" "90" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Arg394His)" "2" "0000447038" "00021818" "90" "1762" "0" "1764" "0" "c.1762_1764del" "r.(?)" "p.(Asp588del)" "2" "0000447039" "00021818" "90" "1560" "0" "1560" "0" "c.1560del" "r.(?)" "p.(Cys521Valfs*13)" "2" "0000447040" "00021818" "90" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Pro130Ser)" "2" "0000461177" "00021818" "70" "1184" "0" "1184" "0" "c.1184T>C" "r.(?)" "p.(Ile395Thr)" "2" "0000466741" "00021818" "50" "1780" "0" "1780" "0" "c.1780A>G" "r.(?)" "p.(Ser594Gly)" "2" "0000466742" "00021818" "50" "1838" "0" "1838" "0" "c.1838G>A" "r.(?)" "p.(Arg613Gln)" "2" "0000466743" "00021818" "50" "1579" "0" "1579" "0" "c.1579G>A" "r.(?)" "p.(Val527Ile)" "2" "0000466744" "00021818" "50" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Ala388Thr)" "2" "0000466745" "00021818" "50" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Arg400His)" "2" "0000466746" "00021818" "50" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Arg400His)" "2" "0000466747" "00021818" "50" "558" "0" "558" "0" "c.558G>C" "r.(?)" "p.(Gln186His)" "2" "0000466748" "00021818" "50" "98" "0" "98" "0" "c.98G>A" "r.(?)" "p.(Arg33His)" "2" "0000466749" "00021818" "50" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Cys)" "2" "0000466750" "00021818" "50" "700" "0" "700" "0" "c.700C>A" "r.(?)" "p.(Gln234Lys)" "2" "0000466751" "00021818" "50" "558" "0" "558" "0" "c.558G>C" "r.(?)" "p.(Gln186His)" "2" "0000466752" "00021818" "50" "1178" "0" "1178" "0" "c.1178A>G" "r.(?)" "p.(Tyr393Cys)" "2" "0000466753" "00021818" "50" "292" "0" "292" "0" "c.292C>A" "r.(?)" "p.(Leu98Ile)" "2" "0000466754" "00021818" "50" "1004" "0" "1004" "0" "c.1004G>A" "r.(?)" "p.(Ser335Asn)" "2" "0000466755" "00021818" "50" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Cys)" "2" "0000466756" "00021818" "50" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Cys)" "2" "0000466757" "00021818" "50" "558" "0" "558" "0" "c.558G>C" "r.(?)" "p.(Gln186His)" "2" "0000466758" "00021818" "50" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Ala388Thr)" "2" "0000466759" "00021818" "50" "480" "0" "480" "0" "c.480G>A" "r.(?)" "p.(Met160Ile)" "2" "0000466760" "00021818" "50" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Arg394His)" "2" "0000466761" "00021818" "50" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Cys)" "2" "0000466762" "00021818" "50" "558" "0" "558" "0" "c.558G>C" "r.(?)" "p.(Gln186His)" "2" "0000466763" "00021818" "50" "1354" "0" "1354" "0" "c.1354C>T" "r.(?)" "p.(Leu452Phe)" "2" "0000466764" "00021818" "50" "986" "0" "986" "0" "c.986C>T" "r.(?)" "p.(Pro329Leu)" "2" "0000466765" "00021818" "50" "480" "0" "480" "0" "c.480G>A" "r.(?)" "p.(Met160Ile)" "2" "0000466766" "00021818" "50" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Cys)" "2" "0000466767" "00021818" "50" "558" "0" "558" "0" "c.558G>C" "r.(?)" "p.(Gln186His)" "2" "0000466768" "00021818" "50" "524" "0" "524" "0" "c.524A>G" "r.(?)" "p.(Lys175Arg)" "2" "0000466769" "00021818" "50" "558" "0" "558" "0" "c.558G>C" "r.(?)" "p.(Gln186His)" "2" "0000466770" "00021818" "50" "558" "0" "558" "0" "c.558G>C" "r.(?)" "p.(Gln186His)" "2" "0000466771" "00021818" "50" "558" "0" "558" "0" "c.558G>C" "r.(?)" "p.(Gln186His)" "2" "0000466772" "00021818" "50" "480" "0" "480" "0" "c.480G>A" "r.(?)" "p.(Met160Ile)" "2" "0000466773" "00021818" "50" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Cys)" "2" "0000466774" "00021818" "50" "1387" "0" "1387" "0" "c.1387G>C" "r.(?)" "p.(Ala463Pro)" "2" "0000466775" "00021818" "50" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Cys)" "2" "0000466776" "00021818" "50" "939" "0" "939" "0" "c.939G>A" "r.(?)" "p.(=)" "2" "0000466777" "00021818" "50" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124Trp)" "2" "0000466778" "00021818" "50" "1834" "0" "1834" "0" "c.1834A>T" "r.(?)" "p.(Ile612Phe)" "2" "0000466779" "00021818" "50" "1659" "0" "1659" "0" "c.1659C>G" "r.(?)" "p.(=)" "2" "0000466780" "00021818" "50" "413" "0" "413" "0" "c.413T>G" "r.(?)" "p.(Val138Gly)" "2" "0000466781" "00021818" "50" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Cys)" "2" "0000466782" "00021818" "50" "1648" "0" "1648" "0" "c.1648T>C" "r.(?)" "p.(Phe550Leu)" "2" "0000466783" "00021818" "90" "918" "0" "918" "0" "c.918dup" "r.(?)" "p.(Trp307Leufs*17)" "2" "0000466784" "00021818" "50" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Arg155His)" "2" "0000466785" "00021818" "50" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Glu144Lys)" "2" "0000466786" "00021818" "50" "873" "0" "873" "0" "c.873T>G" "r.(?)" "p.(Ile291Met)" "2" "0000466787" "00021818" "50" "1354" "0" "1354" "0" "c.1354C>T" "r.(?)" "p.(Leu452Phe)" "2" "0000466788" "00021818" "50" "521" "0" "521" "0" "c.521C>T" "r.(?)" "p.(Ser174Phe)" "2" "0000466789" "00021818" "50" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Cys)" "2" "0000466790" "00021818" "50" "24" "0" "24" "0" "c.24C>A" "r.(?)" "p.(His8Gln)" "2" "0000466791" "00021818" "50" "1648" "0" "1648" "0" "c.1648T>C" "r.(?)" "p.(Phe550Leu)" "2" "0000466792" "00021818" "50" "127" "0" "127" "0" "c.127A>G" "r.(?)" "p.(Ile43Val)" "2" "0000466793" "00021818" "50" "1786" "0" "1786" "0" "c.1786C>T" "r.(?)" "p.(Arg596Cys)" "2" "0000466794" "00021818" "50" "1180" "0" "1180" "0" "c.1180C>T" "r.(?)" "p.(Arg394Cys)" "2" "0000466795" "00021818" "50" "1124" "0" "1124" "0" "c.1124T>G" "r.(?)" "p.(Val375Gly)" "2" "0000466796" "00021818" "70" "1569" "0" "1575" "0" "c.1569_1575del" "r.(?)" "p.(Glu524Profs*8)" "2" "0000466797" "00021818" "50" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Cys)" "3" "0000466798" "00021818" "50" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Cys)" "2" "0000466799" "00021818" "50" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Cys)" "2" "0000466800" "00021818" "90" "509" "0" "509" "0" "c.509T>A" "r.(?)" "p.(Leu170*)" "2" "0000466801" "00021818" "50" "1963" "0" "1963" "0" "c.*1G>A" "r.(?)" "p.(=)" "3\'UTR" "0000466802" "00021818" "50" "650" "0" "650" "0" "c.650A>G" "r.(?)" "p.(Asn217Ser)" "2" "0000466803" "00021818" "90" "691" "0" "691" "0" "c.691del" "r.(?)" "p.(Ala231Glnfs*21)" "2" "0000466804" "00021818" "50" "1954" "0" "1954" "0" "c.1954A>G" "r.(?)" "p.(Thr652Ala)" "2" "0000466805" "00021818" "50" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Cys)" "2" "0000466806" "00021818" "50" "90" "0" "90" "0" "c.90G>A" "r.(?)" "p.(=)" "2" "0000466807" "00021818" "50" "90" "0" "90" "0" "c.90G>A" "r.(?)" "p.(=)" "2" "0000466808" "00021818" "50" "497" "0" "497" "0" "c.497G>A" "r.(?)" "p.(Arg166Gln)" "2" "0000466809" "00021818" "50" "1004" "0" "1004" "0" "c.1004G>A" "r.(?)" "p.(Ser335Asn)" "2" "0000466810" "00021818" "50" "1051" "0" "1051" "0" "c.1051A>G" "r.(?)" "p.(Asn351Asp)" "2" "0000466811" "00021818" "50" "496" "0" "496" "0" "c.496C>T" "r.(?)" "p.(Arg166Trp)" "2" "0000466812" "00021818" "50" "480" "0" "480" "0" "c.480G>A" "r.(?)" "p.(Met160Ile)" "2" "0000466813" "00021818" "50" "1655" "0" "1655" "0" "c.1655T>G" "r.(?)" "p.(Ile552Ser)" "2" "0000466814" "00021818" "50" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Ala388Thr)" "2" "0000466815" "00021818" "50" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Cys)" "2" "0000466816" "00021818" "50" "1093" "0" "1093" "0" "c.1093G>A" "r.(?)" "p.(Gly365Ser)" "2" "0000466817" "00021818" "50" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Cys)" "2" "0000536120" "00021818" "30" "-35752" "0" "-35752" "0" "c.-35752C>T" "r.(?)" "p.(=)" "" "0000536121" "00021818" "30" "-712" "0" "-712" "0" "c.-712T>C" "r.(?)" "p.(=)" "" "0000536122" "00021818" "10" "201" "0" "201" "0" "c.201T>C" "r.(?)" "p.(Ile67=)" "" "0000536124" "00021818" "30" "276" "0" "276" "0" "c.276C>T" "r.(?)" "p.(Ser92=)" "" "0000536125" "00021818" "50" "276" "0" "276" "0" "c.276C>T" "r.(?)" "p.(Ser92=)" "" "0000536127" "00021818" "30" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Thr135Ile)" "" "0000536129" "00021818" "50" "521" "0" "521" "0" "c.521C>T" "r.(?)" "p.(Ser174Phe)" "" "0000536130" "00021818" "50" "558" "0" "558" "0" "c.558G>C" "r.(?)" "p.(Gln186His)" "" "0000536131" "00021818" "50" "558" "0" "558" "0" "c.558G>C" "r.(?)" "p.(Gln186His)" "" "0000536132" "00021818" "30" "558" "0" "558" "0" "c.558G>C" "r.(?)" "p.(Gln186His)" "" "0000536135" "00021818" "30" "770" "0" "770" "0" "c.770C>G" "r.(?)" "p.(Thr257Arg)" "" "0000536136" "00021818" "30" "811" "0" "811" "0" "c.811C>G" "r.(?)" "p.(Arg271Gly)" "" "0000536139" "00021818" "10" "1155" "0" "1155" "0" "c.1155A>C" "r.(?)" "p.(Val385=)" "" "0000536140" "00021818" "50" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Cys)" "" "0000536142" "00021818" "70" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Asp487Asn)" "" "0000604581" "00021818" "50" "488" "0" "488" "0" "c.488T>C" "r.(?)" "p.(Leu163Pro)" "" "0000611829" "00021818" "30" "279" "0" "279" "0" "c.279G>A" "r.(?)" "p.(Glu93=)" "" "0000652587" "00021818" "50" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Arg394His)" "" "0000670807" "00021818" "90" "1121" "0" "1121" "0" "c.1121C>T" "r.(?)" "p.(Pro374Leu)" "" "0000678514" "00021818" "50" "467" "0" "467" "0" "c.467T>C" "r.(?)" "p.(Leu156Pro)" "" "0000690387" "00021818" "10" "-133" "0" "-133" "0" "c.-133G>C" "r.(?)" "p.(=)" "" "0000697218" "00021818" "30" "6" "0" "6" "0" "c.6T>V" "r.(?)" "p.(Ala2=)" "" "0000697219" "00021818" "50" "317" "0" "317" "0" "c.317G>A" "r.(?)" "p.(Arg106His)" "" "0000697220" "00021818" "30" "330" "0" "330" "0" "c.330A>G" "r.(?)" "p.(Gln110=)" "" "0000697221" "00021818" "50" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Thr135Ile)" "" "0000697222" "00021818" "50" "497" "0" "497" "0" "c.497G>A" "r.(?)" "p.(Arg166Gln)" "" "0000697223" "00021818" "50" "521" "0" "521" "0" "c.521C>T" "r.(?)" "p.(Ser174Phe)" "" "0000697224" "00021818" "50" "521" "0" "521" "0" "c.521C>T" "r.(?)" "p.(Ser174Phe)" "" "0000697225" "00021818" "50" "521" "0" "521" "0" "c.521C>T" "r.(?)" "p.(Ser174Phe)" "" "0000697226" "00021818" "50" "558" "0" "558" "0" "c.558G>C" "r.(?)" "p.(Gln186His)" "" "0000697227" "00021818" "50" "558" "0" "558" "0" "c.558G>C" "r.(?)" "p.(Gln186His)" "" "0000697228" "00021818" "50" "558" "0" "558" "0" "c.558G>C" "r.(?)" "p.(Gln186His)" "" "0000697229" "00021818" "50" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Val301Ile)" "" "0000697230" "00021818" "50" "1092" "0" "1092" "0" "c.1092A>Y" "r.(?)" "p.(Lys364Asn)" "" "0000697231" "00021818" "30" "1191" "0" "1191" "0" "c.1191C>D" "r.(?)" "p.(Val397=)" "" "0000697232" "00021818" "50" "1196" "0" "1196" "0" "c.1196C>T" "r.(?)" "p.(Thr399Ile)" "" "0000697233" "00021818" "50" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Cys)" "" "0000697234" "00021818" "50" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Cys)" "" "0000697235" "00021818" "50" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408His)" "" "0000697236" "00021818" "30" "1386" "0" "1386" "0" "c.1386G>H" "r.(?)" "p.(Val462=)" "" "0000697237" "00021818" "50" "1457" "0" "1457" "0" "c.1457C>T" "r.(?)" "p.(Thr486Ile)" "" "0000697238" "00021818" "90" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Asp487Asn)" "" "0000697239" "00021818" "90" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Asp487Asn)" "" "0000697240" "00021818" "90" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Asp487Asn)" "" "0000697241" "00021818" "90" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Asp487Asn)" "" "0000697242" "00021818" "50" "1771" "0" "1771" "0" "c.1771G>A" "r.(?)" "p.(Val591Met)" "" "0000697243" "00021818" "50" "1771" "0" "1771" "0" "c.1771G>A" "r.(?)" "p.(Val591Met)" "" "0000697244" "00021818" "90" "459" "0" "462" "0" "c.459_462dup" "r.(?)" "p.(Arg155Asnfs*29)" "" "0000697245" "00021818" "50" "558" "0" "558" "0" "c.558G>C" "r.(?)" "p.(Gln186His)" "" "0000697246" "00021818" "90" "574" "0" "574" "0" "c.574dup" "r.(?)" "p.(Glu192Glyfs*7)" "" "0000697247" "00021818" "90" "574" "0" "574" "0" "c.574dup" "r.(?)" "p.(Glu192Glyfs*7)" "" "0000697248" "00021818" "50" "872" "0" "872" "0" "c.872T>G" "r.(?)" "p.(Ile291Ser)" "" "0000697249" "00021818" "50" "923" "0" "923" "0" "c.923C>T" "r.(?)" "p.(Ala308Val)" "" "0000697250" "00021818" "90" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Asp487Asn)" "" "0000697251" "00021818" "90" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Asp487Asn)" "" "0000697252" "00021818" "70" "1786" "0" "1786" "0" "c.1786C>G" "r.(?)" "p.(Arg596Gly)" "" "0000697253" "00021818" "90" "1837" "0" "1837" "0" "c.1837C>T" "r.(?)" "p.(Arg613*)" "" "0000697254" "00021818" "90" "691" "0" "691" "0" "c.691del" "r.(?)" "p.(Ala231Glnfs*21)" "" "0000697255" "00021818" "70" "488" "0" "488" "0" "c.488T>C" "r.(?)" "p.(Leu163Pro)" "" "0000697256" "00021818" "70" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Arg394His)" "" "0000697257" "00021818" "70" "488" "0" "488" "0" "c.488T>C" "r.(?)" "p.(Leu163Pro)" "" "0000697258" "00021818" "50" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Arg238Cys)" "" "0000697259" "00021818" "90" "1163" "0" "1163" "0" "c.1163C>T" "r.(?)" "p.(Ala388Val)" "" "0000697260" "00021818" "90" "1163" "0" "1163" "0" "c.1163C>T" "r.(?)" "p.(Ala388Val)" "" "0000697261" "00021818" "90" "1201" "0" "1201" "0" "c.1201A>T" "r.(?)" "p.(Lys401*)" "" "0000697262" "00021818" "90" "-82" "3795" "56923" "0" "c.(?_-82+3795)_(*54961_?)del" "r.?" "p.0?" "1i_2_" "0000697751" "00021818" "70" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Arg238Cys)" "" "0000697752" "00021818" "70" "872" "0" "872" "0" "c.872T>G" "r.(?)" "p.(Ile291Ser)" "" "0000722231" "00021818" "70" "1108" "0" "1108" "0" "c.1108del" "r.(?)" "p.(Met370Cysfs*10)" "" "0000760013" "00021818" "50" "314" "0" "314" "0" "c.314G>T" "r.(?)" "p.(Arg105Leu)" "" "0000760021" "00021818" "50" "558" "0" "558" "0" "c.558G>C" "r.(?)" "p.(Gln186His)" "" "0000798441" "00021818" "70" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Cys)" "0" "0000803846" "00021818" "50" "688" "0" "688" "0" "c.688A>G" "r.(?)" "p.(Ile230Val)" "" "0000810987" "00021818" "70" "722" "0" "722" "0" "c.722A>G" "r.(?)" "p.(Tyr241Cys)" "0" "0000813232" "00021818" "50" "2191" "0" "2191" "0" "c.*229C>T" "r.(?)" "p.(=)" "0" "0000814250" "00021818" "70" "896" "0" "896" "0" "c.896G>A" "r.(?)" "p.?" "0" "0000819218" "00021818" "50" "59" "0" "59" "0" "c.59G>T" "r.(?)" "p.(Cys20Phe)" "" "0000845919" "00021818" "70" "467" "0" "467" "0" "c.467T>C" "r.(?)" "p.(Leu156Pro)" "" "0000852075" "00021818" "50" "496" "0" "496" "0" "c.496C>T" "r.(?)" "p.(Arg166Trp)" "" "0000852076" "00021818" "50" "839" "0" "839" "0" "c.839T>A" "r.(?)" "p.(Leu280His)" "" "0000852077" "00021818" "50" "1198" "0" "1198" "0" "c.1198C>A" "r.(?)" "p.(Arg400Ser)" "" "0000861362" "00021818" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000861363" "00021818" "50" "607" "0" "607" "0" "c.607C>T" "r.(?)" "p.(Arg203Trp)" "" "0000861364" "00021818" "50" "743" "0" "743" "0" "c.743A>C" "r.(?)" "p.(Gln248Pro)" "" "0000861365" "00021818" "50" "1727" "0" "1727" "0" "c.1727G>A" "r.(?)" "p.(Arg576His)" "" "0000997468" "00021818" "50" "278445" "0" "278445" "0" "c.*276483G>A" "r.(=)" "p.(=)" "" "0001014492" "00021818" "30" "501" "0" "501" "0" "c.501G>A" "r.(?)" "p.(Lys167=)" "" "0001025573" "00021818" "90" "542" "0" "543" "0" "c.542_543insAAAGGTA" "r.(?)" "p.(Tyr181*)" "" "0001037153" "00021818" "30" "-81" "-291" "-81" "-291" "c.-81-291A>G" "r.(=)" "p.(=)" "" "0001037154" "00021818" "30" "338" "0" "338" "0" "c.338G>A" "r.(?)" "p.(Arg113Gln)" "" "0001037155" "00021818" "50" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(Arg299Trp)" "" "0001046172" "00021818" "30" "6" "0" "6" "0" "c.6T>G" "r.(?)" "p.(=)" "" "0001053332" "00021818" "50" "521" "0" "521" "0" "c.521C>T" "r.(?)" "p.(Ser174Phe)" "" "0001069113" "00021818" "50" "488" "0" "488" "0" "c.488T>C" "r.(?)" "p.(Leu163Pro)" "" "0001069180" "00021818" "70" "1506" "0" "1506" "0" "c.1506del" "r.(?)" "p.(Val504TrpfsTer30)" "" "0001069387" "00021818" "70" "1569" "0" "1569" "0" "c.1569dup" "r.(?)" "p.(Glu524Ter)" "" "0001069721" "00021818" "50" "488" "0" "488" "0" "c.488T>C" "r.(?)" "p.(Leu163Pro)" "" "0001072530" "00021818" "70" "325" "0" "325" "0" "c.325del" "r.(?)" "p.(Arg109GlyfsTer45)" "" "0001072531" "00021818" "90" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Asp487Asn)" "" "0001076247" "00021818" "90" "467" "0" "467" "0" "c.467T>C" "r.(?)" "p.(Leu156Pro)" "" "0001076248" "00021818" "90" "467" "0" "467" "0" "c.467T>C" "r.(?)" "p.(Leu156Pro)" "" "0001076274" "00021818" "90" "" "0" "" "0" "c.(-82+1_-81-1)_(*1596_?)del" "r.?" "p.0?" "" "0001076275" "00021818" "90" "" "0" "" "0" "c.(-82+1_-81-1)_(*1596_?)del" "r.?" "p.0?" "" "0001077335" "00021818" "90" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Asp487Asn)" "2" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 174 "{{screeningid}}" "{{variantid}}" "0000209602" "0000439764" "0000209842" "0000440069" "0000214673" "0000447004" "0000214673" "0000447005" "0000214674" "0000447006" "0000214674" "0000447007" "0000214675" "0000447008" "0000214675" "0000447009" "0000214676" "0000447010" "0000214676" "0000447011" "0000214677" "0000447012" "0000214677" "0000447013" "0000214678" "0000447014" "0000214679" "0000447015" "0000214679" "0000447016" "0000214680" "0000447017" "0000214681" "0000447018" "0000214681" "0000447019" "0000214682" "0000447020" "0000214683" "0000447021" "0000214684" "0000447022" "0000214685" "0000447023" "0000214686" "0000447024" "0000214687" "0000447025" "0000214689" "0000447027" "0000214689" "0000447028" "0000214690" "0000447030" "0000220612" "0000466741" "0000220645" "0000466742" "0000220650" "0000466743" "0000220667" "0000466744" "0000220685" "0000466745" "0000220685" "0000466746" "0000220763" "0000466747" "0000220790" "0000466748" "0000220825" "0000466749" "0000220989" "0000466750" "0000221011" "0000466751" "0000221147" "0000466752" "0000221161" "0000466753" "0000221175" "0000466754" "0000221268" "0000466755" "0000221285" "0000466756" "0000221341" "0000466757" "0000221363" "0000466758" "0000221370" "0000466759" "0000221438" "0000466760" "0000221445" "0000466761" "0000221462" "0000466762" "0000221495" "0000466763" "0000221502" "0000466764" "0000221532" "0000466765" "0000221535" "0000466766" "0000221550" "0000466767" "0000221685" "0000466768" "0000221685" "0000466769" "0000221749" "0000466770" "0000221806" "0000466771" "0000221824" "0000466772" "0000221852" "0000466773" "0000221865" "0000466774" "0000221868" "0000466775" "0000221885" "0000466776" "0000221908" "0000466777" "0000221919" "0000466778" "0000221950" "0000466779" "0000221999" "0000466780" "0000222010" "0000466781" "0000222050" "0000466782" "0000222082" "0000466783" "0000222225" "0000466784" "0000222235" "0000466785" "0000222262" "0000466786" "0000222311" "0000466787" "0000222643" "0000466788" "0000222692" "0000466789" "0000222697" "0000466790" "0000222725" "0000466791" "0000222756" "0000466792" "0000222786" "0000466793" "0000222848" "0000466794" "0000222892" "0000466795" "0000222892" "0000466796" "0000223001" "0000466797" "0000223025" "0000466798" "0000223060" "0000466799" "0000223069" "0000466800" "0000223135" "0000466801" "0000223147" "0000466802" "0000223147" "0000466803" "0000223175" "0000466804" "0000223252" "0000466805" "0000223330" "0000466806" "0000223331" "0000466807" "0000223355" "0000466808" "0000223485" "0000466809" "0000223520" "0000466810" "0000223538" "0000466811" "0000223607" "0000466812" "0000223638" "0000466813" "0000223651" "0000466814" "0000223712" "0000466815" "0000223747" "0000466816" "0000223803" "0000466817" "0000227162" "0000461177" "0000270756" "0000604581" "0000295898" "0000652587" "0000306990" "0000670807" "0000315141" "0000697218" "0000315142" "0000697219" "0000315143" "0000697220" "0000315144" "0000697221" "0000315145" "0000697222" "0000315146" "0000697223" "0000315147" "0000697224" "0000315148" "0000697225" "0000315149" "0000697226" "0000315150" "0000697227" "0000315151" "0000697228" "0000315152" "0000697229" "0000315153" "0000697230" "0000315154" "0000697231" "0000315155" "0000697232" "0000315156" "0000697233" "0000315157" "0000697234" "0000315158" "0000697235" "0000315159" "0000697236" "0000315160" "0000697237" "0000315161" "0000697238" "0000315162" "0000697239" "0000315163" "0000697240" "0000315164" "0000697241" "0000315165" "0000697242" "0000315166" "0000697243" "0000315167" "0000697244" "0000315167" "0000697258" "0000315168" "0000697245" "0000315169" "0000697246" "0000315169" "0000697259" "0000315170" "0000697247" "0000315170" "0000697260" "0000315171" "0000697248" "0000315172" "0000697249" "0000315172" "0000697261" "0000315173" "0000697250" "0000315174" "0000697251" "0000315175" "0000697252" "0000315176" "0000697253" "0000315176" "0000697262" "0000315177" "0000697254" "0000315178" "0000697255" "0000315179" "0000697256" "0000315180" "0000697257" "0000315662" "0000697751" "0000315663" "0000697752" "0000360197" "0000760013" "0000360200" "0000760021" "0000384016" "0000798441" "0000384368" "0000810987" "0000386010" "0000813232" "0000386616" "0000814250" "0000389948" "0000819218" "0000408910" "0000845919" "0000474715" "0001069113" "0000474782" "0001069180" "0000474989" "0001069387" "0000475325" "0001069721" "0000477305" "0001072530" "0000477306" "0001072531" "0000480160" "0001076247" "0000480160" "0001076274" "0000480161" "0001076248" "0000480161" "0001076275" "0000481226" "0001077335"