### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DNAJB6) # 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}}" "DNAJB6" "DnaJ (Hsp40) homolog, subfamily B, member 6" "7" "q36.3" "unknown" "NG_032573.1" "UD_136086610306" "" "https://www.LOVD.nl/DNAJB6" "" "1" "14888" "10049" "611332" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/DNAJB6_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2012-04-01 00:00:00" "00006" "2019-12-30 12:44:11" "00006" "2025-11-07 14:42:36" ## 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}}" "00024215" "DNAJB6" "transcript variant 1" "004" "NM_058246.3" "" "NP_490647.1" "" "" "" "-154" "2322" "981" "157129711" "157210133" "00006" "2017-01-03 09:57:32" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "02454" "LGMDD1;LGMD1E" "dystrophy, muscular, limb-girdle, autosomal dominant, type 1 (LGMD1E)" "AD" "603511" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-01-12 20:45:48" "04286" "LGMD1" "dystrophy, muscular, limb-girdle, autosomal dominant, type 1 (LGMD-1)" "" "" "" "" "" "00006" "2015-06-19 22:12:47" "00006" "2021-12-11 13:56:28" "04327" "CRS" "craniosynostosis (CRS)" "" "" "" "" "" "00006" "2015-09-12 20:59:03" "" "" "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" "" "" "05324" "DMD" "dystrophy, muscular, Duchenne type (DMD)" "XLR" "310200" "" "" "" "00006" "2017-09-01 17:41:21" "00006" "2021-12-10 21:51:32" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DNAJB6" "02454" ## Individuals ## Do not remove or alter this header ## ## Count = 113 "{{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}}" "00094021" "" "" "" "1" "" "01860" "" "" "F" "no" "Taiwan" ">51y" "0" "" "" "Han Chinese" "" "00174771" "" "" "" "1" "" "00006" "{PMID:Fichna 2018:29970176}" "" "M" "" "Poland" "" "0" "" "" "" "Pat275B" "00205425" "" "" "" "1" "" "00006" "{PMID:Sandell 2010:20682716}, {PMID:Hackman 2011:21376592}" "2-generation family, affected father/son" "" "" "Finland" "" "0" "" "" "" "" "00205426" "" "" "" "2" "" "00006" "{PMID:Sandell 2010:20682716}, {PMID:Hackman 2011:21376592}" "2-generation family, affected mother/son" "" "" "Finland" "" "0" "" "" "" "" "00205427" "" "" "" "1" "" "00006" "{PMID:Sandell 2010:20682716}, {PMID:Hackman 2011:21376592}" "2-generation family, affected mother/son" "" "" "Finland" "" "0" "" "" "" "" "00205428" "" "" "" "3" "" "00006" "{PMID:Sandell 2010:20682716}, {PMID:Hackman 2011:21376592}" "3-generation family, 4 affecteds" "" "" "Finland" "" "0" "" "" "" "" "00205429" "" "" "" "9" "" "00006" "{PMID:Sandell 2010:20682716}, {PMID:Hackman 2011:21376592}" "4-generation family, 12 affecteds" "" "" "Finland" "" "0" "" "" "" "" "00205430" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "" "" "00205431" "" "" "" "11" "" "00006" "{PMID:Speer 1995:8533766}, {PMID:Speer 1999:9973293}" "6-generation family, 19 affecteds, 1 unaffected young carrier" "" "" "United States" "" "0" "" "" "" "" "00205432" "" "" "" "20" "" "00006" "{PMID:Speer 1995:8533766}, {PMID:Speer 1999:9973293}" "7-generation family, 33 affecteds, 1 unaffected young carrier" "" "" "United States" "" "0" "" "" "" "" "00205433" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "" "" "00205434" "" "" "" "8" "" "00006" "{PMID:Sarparanta 2012:22366786}" "4-generation family, 8 affecteds" "" "" "Italy" "" "0" "" "" "" "" "00205435" "" "" "" "1" "" "00006" "{PMID:Harms 2012:22334415}" "Fam1; 3-generation family, 7 affecteds, PatII2" "F" "" "United States" ">52y" "0" "" "" "white" "" "00205436" "" "" "" "1" "" "00006" "{PMID:Harms 2012:22334415}" "Fam1; 3-generation family, 7 affecteds, PatII3" "M" "" "United States" ">56y" "0" "" "" "white" "" "00205437" "" "" "" "1" "" "00006" "{PMID:Harms 2012:22334415}" "Fam1; 3-generation family, 7 affecteds, PatII7" "F" "" "United States" ">37y" "0" "" "" "white" "" "00205438" "" "" "" "1" "" "00006" "{PMID:Harms 2012:22334415}" "Fam1; 3-generation family, 7 affecteds, PatIII1" "M" "" "United States" ">41y" "0" "" "" "white" "" "00205439" "" "" "" "1" "" "00006" "{PMID:Harms 2012:22334415}" "Fam1; 3-generation family, 7 affecteds, PatIII2" "F" "" "United States" ">35y" "0" "" "" "white" "" "00205440" "" "" "" "4" "" "00006" "{PMID:Sarparanta 2012:22366786}" "3-generation family, 4 affecteds" "" "" "Italy" "" "0" "" "" "" "" "00205441" "" "" "" "1" "" "00006" "{PMID:Harms 2012:22334415}" "Fam2; 4-generation family, 9 affecteds, PatIII1" "F" "" "United States" ">66y" "0" "" "" "African American" "" "00205442" "" "" "" "1" "" "00006" "{PMID:Harms 2012:22334415}" "Fam2; 4-generation family, 9 affecteds, PatIII5" "M" "" "United States" ">45y" "0" "" "" "African American" "" "00205443" "" "" "" "1" "" "00006" "{PMID:Harms 2012:22334415}" "Fam2; 4-generation family, 9 affecteds, PatIII6" "M" "" "United States" ">56y" "0" "" "" "African American" "" "00205444" "" "" "" "1" "" "03103" "" "" "" "" "" "" "0" "" "" "" "" "00205445" "" "" "" "1" "" "03103" "" "" "" "" "" "" "0" "" "" "" "" "00205446" "" "" "" "1" "" "03102" "" "" "F" "yes" "(Korea, South (Republic))" "" "0" "" "" "" "" "00219549" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219578" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "F" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219582" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "F" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219678" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219684" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219689" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219708" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219711" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219727" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219731" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219745" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219802" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219832" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219874" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219896" "" "" "" "1" "" "00430" "{PMID:Nallamilli 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"{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220064" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220106" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220124" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220136" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220165" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220212" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220242" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220277" "" "" "" 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"{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222323" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222346" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "F" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222421" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222430" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222453" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222683" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222731" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00265655" "" "" "" "1" "" "00006" "{PMID:Monies 2016:27671536}" "759-gene panel analysis 50 patients suspected of LGMD" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam58 / 14R-00183" "00287377" "" "" "" "1" "" "03564" "" "" "F" "?" "Belgium" "20y" "0" "" "" "" "" "00314230" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314231" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314232" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00374713" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2546" "00388684" "" "" "" "1" "" "00006" "{PMID:Chakravorty 2020:33250842}" "" "F" "" "India" "" "0" "" "" "India" "Pat123" "00392006" "" "" "" "1" "" "03501" "{PMID:Karthikeyan 2024:39548682}" "" "M" "yes" "India" "" "0" "yes" "" "" "MDCRC/1853/DBI-1498" "00395637" "" "" "" "8" "" "00006" "{PMID:Kim 2018:29869469}" "4-generation family, 8 affected (3F, 5M)" "F" "" "Korea" "" "0" "" "" "" "Fam1PatIII10" "00395638" "" "" "" "2" "" "00006" "{PMID:Kim 2018:29869469}" "2-generation family, affected father/son" "M" "" "Korea" "" "0" "" "" "" "Fam2Pat2/3" "00399005" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "M" "" "Spain" "" "0" "" "" "" "P31" "00468234" "" "" "" "1" "" "00006" "{PMID:Ayala-Ramirez 2025:41066171}" "patient" "M" "" "Colombia" "" "0" "" "" "" "Pat177" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 114 "{{individualid}}" "{{diseaseid}}" "00094021" "05121" "00174771" "05126" "00205425" "04286" "00205426" "04286" "00205427" "04286" "00205428" "04286" "00205429" "04286" "00205430" "05126" "00205431" "04286" "00205432" "04286" "00205433" "04286" "00205434" "04286" "00205435" "04286" "00205436" "04286" "00205437" "04286" "00205438" "04286" "00205439" "04286" "00205440" "04286" "00205441" "00244" "00205442" "00244" "00205443" "00244" "00205444" "05126" "00205445" "05126" "00205446" "00198" "00219549" "05126" "00219578" "05126" "00219582" "05126" "00219678" "05126" "00219684" "05126" "00219689" "05126" "00219708" "05126" "00219711" "05126" "00219727" "05126" "00219731" "05126" "00219745" "04327" "00219745" "05126" "00219802" "05126" "00219832" "05126" "00219874" "05126" "00219896" "05126" "00219901" "05126" "00219904" "05126" "00219974" "05126" "00219978" "05126" "00219979" "05126" "00219983" "05126" "00219997" "05126" "00220003" "05126" "00220064" "05126" "00220106" "05126" "00220124" "05126" "00220136" "05126" "00220165" "05126" "00220212" "05126" "00220242" "05126" "00220277" "05126" "00220315" "05126" "00220406" "05126" "00220408" "05126" "00220507" "05126" "00220603" "05126" "00220644" "05126" "00220675" "05126" "00220747" "05126" "00220751" "05126" "00220772" "05126" "00220845" "05126" "00220863" "05126" "00220876" "05126" "00220882" "05126" "00220888" "05126" "00220942" "05126" "00221029" "05126" "00221050" "05126" "00221099" "05126" "00221132" "05126" "00221159" "05126" "00221292" "05126" "00221295" "05126" "00221314" "05126" "00221347" "05126" "00221374" "05126" "00221403" "05126" "00221457" "05126" "00221595" "05126" "00221628" "05126" "00221641" "05126" "00221668" "05126" "00221839" "05126" "00221888" "05126" "00221973" "05126" "00221995" "05126" "00222078" "05126" "00222147" "05126" "00222168" "05126" "00222323" "05126" "00222346" "05126" "00222421" "05126" "00222430" "05126" "00222453" "05126" "00222683" "05126" "00222731" "05126" "00265655" "05126" "00287377" "05126" "00314230" "05126" "00314231" "05126" "00314232" "05126" "00374713" "00198" "00388684" "00244" "00392006" "05324" "00395637" "05126" "00395638" "05126" "00399005" "05618" "00468234" "00244" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 02454, 04286, 04327, 05121, 05126, 05324, 05618 ## Count = 33 "{{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}}" "0000072413" "05121" "00094021" "01860" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139598" "05126" "00174771" "00006" "Isolated (sporadic)" "48y" "onset overt symptoms adulthood; CPK raised 5x; limb-girdle weakness with subacute onset, transient improvement after corticosteroid treatment, afterwards slowly progressive course; distal weakness present; generalized muscle atrophy; waddling gait" "" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000153606" "04286" "00205425" "00006" "Isolated (sporadic)" "" "muscle weakness not proximal upper limbs, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure; elevated serum creatine phosphokinase (HP:0003236) 3x" "38y" "" "" "" "" "" "" "" "LGMD-1E" "limb-girdle muscular dystrophy, autosomal dominant" "" "0000153607" "04286" "00205426" "00006" "Isolated (sporadic)" "" "muscle weakness not proximal upper limbs, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure; elevated serum creatine phosphokinase (HP:0003236) normal - 8x" "28y-40y" "" "" "" "" "" "" "" "LGMD-1E" "limb-girdle muscular dystrophy, autosomal dominant" "" "0000153608" "04286" "00205427" "00006" "Isolated (sporadic)" "" "muscle weakness proximal upper limbs mild, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure; no elevated serum creatine phosphokinase (-HP:0003236)" "40y" "" "" "" "" "" "" "" "LGMD-1E" "limb-girdle muscular dystrophy, autosomal dominant" "" "0000153609" "04286" "00205428" "00006" "Familial, autosomal dominant" "" "muscle weakness proximal upper limbs mild/moderate, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure; elevated serum creatine phosphokinase (HP:0003236) 2-3x" "45y-50y" "" "" "" "" "" "" "" "LGMD-1E" "limb-girdle muscular dystrophy, autosomal dominant" "" "0000153610" "04286" "00205429" "00006" "Familial, autosomal dominant" "" "muscle weakness proximal upper limbs no/moderate, muscle weakness proximal lower limbs moderate/severe, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure; elevated serum creatine phosphokinase (HP:0003236) normal - 3x" "20y-60y" "" "" "" "" "" "" "" "LGMD-1E" "limb-girdle muscular dystrophy, autosomal dominant" "" "0000153611" "05126" "00205430" "00464" "Familial, autosomal dominant" "" "elevated serum creatine phosphokinase (HP:0003236) 2,000" "" "" "" "" "" "" "" "" "LGMD-1E" "limb-girdle muscular dystrophy" "" "0000153612" "04286" "00205431" "00006" "Familial, autosomal dominant" "" "muscle weakness proximal upper limbs no/moderate, muscle weakness proximal lower limbs moderate/severe, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure; elevated serum creatine phosphokinase (HP:0003236) normal - 10x" "20y-55y" "" "" "" "" "" "" "" "LGMD-1E" "limb-girdle muscular dystrophy, autosomal dominant" "" "0000153613" "04286" "00205432" "00006" "Familial, autosomal dominant" "" "muscle weakness proximal upper limbs mild/severe, muscle weakness proximal lower limbs moderate/severe, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure; elevated serum creatine phosphokinase (HP:0003236) normal - 3.5x" "14y-55y" "" "" "" "" "" "" "" "LGMD-1E" "limb-girdle muscular dystrophy, autosomal dominant" "" "0000153614" "04286" "00205433" "00464" "Familial, autosomal dominant" "" "limb girdle weakness; no elevated serum creatine phosphokinase (-HP:0003236)" "" "" "" "muscle biopsy suggestive of inclusion body myopathy" "" "" "" "" "LGMD-1E" "limb-girdle muscular dystrophy, autosomal dominant" "" "0000153615" "04286" "00205434" "00006" "Familial, autosomal dominant" "" "muscle weakness proximal upper limbs mild, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure; elevated serum creatine phosphokinase (HP:0003236) 2x" "20y-50y" "" "" "" "" "" "" "" "LGMD-1E" "limb-girdle muscular dystrophy, autosomal dominant" "" "0000153616" "04286" "00205435" "00006" "Familial, autosomal dominant" "" "proximal predominant weakness arms/legs, waddling gait; 56y-motorized wheelchair; elevated serum creatine phosphokinase (HP:0003236) 1118; still walking >52y" "30y" "" "difficulty climbing stairs" "" "" "" "" "" "LGMD-1E" "limb-girdle muscular dystrophy, autosomal dominant" "" "0000153617" "04286" "00205436" "00006" "Familial, autosomal dominant" "" "proximal predominant weakness arms/legs, Gower’s sign, waddling gait; 56y-motorized wheelchair; short duration small amplitude polyphasic MUPs quadriceps/deltoid muscles; elevated serum creatine phosphokinase (HP:0003236) 632; still walking >56y" "33y" "" "difficulty climbing stairs" "" "" "" "" "" "LGMD-1E" "limb-girdle muscular dystrophy, autosomal dominant" "" "0000153618" "04286" "00205437" "00006" "Familial, autosomal dominant" "" "proximal predominant weakness legs, mildly waddling gait; elevated serum creatine phosphokinase (HP:0003236) 543; still walking >37y" "32y" "" "difficulty climbing stairs, rising from a sitting position, myalgias" "" "" "" "" "" "LGMD-1E" "limb-girdle muscular dystrophy, autosomal dominant" "" "0000153619" "04286" "00205438" "00006" "Familial, autosomal dominant" "" "mild proximal predominant weakness lower extremities; EMG fibs, PSW, increased insertional activity, with early recruitment small-amplitude narrow-duration MUPs in iliopsoas/quadriceps muscles; elevated serum creatine phosphokinase (HP:0003236) 742; still walking >41y" "35y" "" "trouble climbing stairs/rising from sitting position" "" "" "" "" "" "LGMD-1E" "limb-girdle muscular dystrophy, autosomal dominant" "" "0000153620" "04286" "00205439" "00006" "Familial, autosomal dominant" "" "proximal leg weakness with waddling gait, Gower’s maneuver; elevated serum creatine phosphokinase (HP:0003236) 233; still walking >35y" "35y" "" "fatigue, trouble climbing stairs/rising from sitting position" "" "" "" "" "" "LGMD-1E" "limb-girdle muscular dystrophy, autosomal dominant" "" "0000153621" "04286" "00205440" "00006" "Familial, autosomal dominant" "" "muscle weakness not proximal upper limbs, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure; elevated serum creatine phosphokinase (HP:0003236) normal - 8x" "30y-55y" "" "" "" "" "" "" "" "LGMD-1E" "limb-girdle muscular dystrophy, autosomal dominant" "" "0000153622" "00244" "00205441" "00006" "Familial, autosomal dominant" "" "distal muscle wasting legs/arms, severe distal weakness, mild-moderate proximal weakness; 62y-motorized wheelchair; still walking >66y" "18y" "" "initially developed tripping, then difficulty opening jars" "" "" "" "" "" "" "myopathy" "" "0000153623" "00244" "00205442" "00006" "Familial, autosomal dominant" "" "distal muscle wasting legs/arms, severe distal weakness, mild-moderate proximal weakness ; NCS small CMAPs, normal SNAPs; EMG fibs, PSW with narrow, short-amplitude MUP and early recruitment; elevated serum creatine phosphokinase (HP:0003236) 278; 45y-lost ability to walk (HP:0006957)" "25y" "" "initially developed tripping, progressive distal weakness" "" "" "" "" "" "" "myopathy" "" "0000153624" "00244" "00205443" "00006" "Familial, autosomal dominant" "" "diffuse lower extremity weakness, severe distal/moderate proximal upper extremity weakness; NCS small CMAPs, normal SNAPs; EMG fibs and PSW with narrow, short-amplitude MUP and early recruitment; elevated serum creatine phosphokinase (HP:0003236) 339; 53y-lost ability to walk (HP:0006957)" "35y" "" "progressive gait difficulty" "" "" "" "" "" "" "myopathy" "" "0000153625" "05126" "00205444" "03103" "Familial, autosomal dominant" "" "severe, early onset" "" "" "" "" "" "" "" "" "LGMD-1E" "limb-girdle muscular dystrophy" "" "0000153626" "05126" "00205445" "03103" "Familial, autosomal dominant" "" "severe, early onset" "" "" "" "" "" "" "" "" "LGMD-1E" "limb-girdle muscular dystrophy" "" "0000153627" "00198" "00205446" "03102" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "difficulty running" "" "0000203442" "05126" "00265655" "00006" "Familial, autosomal dominant" "21y" "LGMD, dysphagia, bulbar weakness; elevated CK (285 U/l); biopsy Myopathic inclusion bodies" "" "" "" "" "" "" "" "" "" "LGMD" "" "0000221979" "05126" "00287377" "03564" "Unknown" "19y" "psoas weakness, pelvic girdle weakness, tibialis anterior weakness, easy fatigability" "12y" "19y" "proximal lower-limb weakness" "" "" "" "" "" "" "muscular dystrophy" "" "0000269923" "00198" "00374713" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "muscular dystrophy, myopathy" "" "0000282224" "00244" "00388684" "00006" "Familial, autosomal dominant" "22y" "distal muscle weakness, proximal muscle weakness; CK level 392 IU/L; difficulty getting up from ground; Difficulty walking on heels; Muscle most-affected: Hip adductors, iliopsoas, gluteus maximus and gastrocnemius" "17y" "" "" "" "" "" "" "" "" "" "" "0000285296" "05324" "00392006" "03501" "Unknown" "4y" "delayed fine motor development (HP:0010862), calf muscle hypertrophy (HP:0008981), Gowers sign (HP:0003391), difficulty walking (HP:0002355), proximal muscle weakness (HP:0003701)" "" "" "" "" "" "" "" "" "muscular dystrophy" "DMD" "" "0000288836" "05126" "00395637" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "LGMD1D" "limb-girdle muscular dystrophy" "" "0000288837" "05126" "00395638" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "LGMD1D" "limb-girdle muscular dystrophy" "" "0000292093" "05618" "00399005" "00006" "Unknown" "" "serum CK >1300 U/L; muscle biopsy small protein aggregates; distal muscle weakness" "53y" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000353386" "00244" "00468234" "00006" "Unknown" "4y" "" "" "" "" "" "" "" "" "" "" "myopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 113 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000094189" "00094021" "1" "01860" "01860" "2017-01-03 05:30:18" "" "" "SEQ-NG-I" "DNA" "White blood cell" "" "0000175662" "00174771" "1" "00006" "00006" "2018-08-10 19:10:48" "" "" "SEQ-NG" "DNA" "" "WES" "0000206453" "00205425" "1" "00006" "00006" "2012-04-02 22:51:22" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000206454" "00205426" "1" "00006" "00006" "2012-04-02 22:51:22" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000206455" "00205427" "1" "00006" "00006" "2012-04-02 22:51:22" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000206456" "00205428" "1" "00006" "00006" "2012-04-02 22:51:22" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000206457" "00205429" "1" "00006" "00006" "2012-04-02 22:51:22" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000206458" "00205430" "1" "00464" "00006" "2013-07-01 17:54:49" "00006" "2013-07-05 14:30:33" "PCR;SEQ" "DNA" "" "" "0000206459" "00205431" "1" "00006" "00006" "2012-04-02 22:51:22" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000206460" "00205432" "1" "00006" "00006" "2012-04-02 22:51:22" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000206461" "00205433" "1" "00464" "00006" "2012-11-20 16:21:08" "00006" "2012-11-20 20:07:07" "PCR;SEQ" "DNA" "" "" "0000206462" "00205434" "1" "00006" "00006" "2012-04-02 22:51:22" "" "" "SEQ" "DNA" "" "" "0000206463" "00205435" "1" "00006" "00006" "2012-04-02 22:51:22" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000206464" "00205436" "1" "00006" "00006" "2012-04-02 22:51:22" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000206465" "00205437" "1" "00006" "00006" "2012-04-02 22:51:22" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000206466" "00205438" "1" "00006" "00006" "2012-04-02 22:51:22" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000206467" "00205439" "1" "00006" "00006" "2012-04-02 22:51:22" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000206468" "00205440" "1" "00006" "00006" "2012-04-02 22:51:22" "" "" "SEQ" "DNA" "" "" "0000206469" "00205441" "1" "00006" "00006" "2012-04-02 22:51:22" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000206470" "00205442" "1" "00006" "00006" "2012-04-02 22:51:22" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000206471" "00205443" "1" "00006" "00006" "2012-04-02 22:51:22" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000206472" "00205444" "1" "03103" "00006" "2015-04-15 10:16:35" "" "" "SEQ" "DNA" "" "" "0000206473" "00205445" "1" "03103" "00006" "2015-04-15 10:11:11" "" "" "SEQ-NG" "DNA" "" "" "0000206474" "00205446" "1" "03102" "00006" "2015-04-14 10:24:50" "" "" "SEQ" "DNA" "" "" "0000220620" "00219549" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220649" "00219578" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220653" "00219582" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220749" "00219678" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220755" "00219684" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220760" "00219689" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220779" "00219708" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220782" "00219711" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220798" "00219727" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220802" "00219731" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220816" "00219745" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220873" "00219802" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220903" "00219832" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220945" "00219874" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220967" "00219896" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220972" "00219901" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220975" "00219904" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221045" "00219974" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221049" "00219978" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221050" "00219979" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221054" "00219983" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221068" "00219997" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221074" "00220003" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221135" "00220064" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221177" "00220106" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221195" "00220124" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221207" "00220136" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221236" "00220165" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221283" "00220212" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221313" "00220242" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221348" "00220277" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221386" "00220315" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221477" "00220406" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221479" "00220408" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221578" "00220507" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221674" "00220603" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221715" "00220644" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221746" "00220675" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221818" "00220747" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221822" "00220751" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221843" "00220772" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221916" "00220845" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221934" "00220863" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221947" "00220876" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221953" "00220882" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221959" "00220888" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222013" "00220942" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222100" "00221029" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222121" "00221050" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222170" "00221099" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222203" "00221132" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222230" "00221159" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222363" "00221292" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222366" "00221295" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222385" "00221314" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222418" "00221347" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222445" "00221374" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222474" "00221403" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222528" "00221457" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222666" "00221595" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222699" "00221628" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222712" "00221641" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222739" "00221668" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222910" "00221839" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222959" "00221888" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223044" "00221973" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223066" "00221995" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223149" "00222078" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223218" "00222147" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223239" "00222168" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223394" "00222323" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223417" "00222346" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223492" "00222421" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223501" "00222430" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223524" "00222453" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223754" "00222683" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223802" "00222731" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000266778" "00265655" "1" "00006" "00006" "2019-09-30 11:53:15" "" "" "SEQ;SEQ-NG" "DNA" "" "759-gene panel neurological disorders" "0000288548" "00287377" "1" "03564" "03564" "2020-02-14 15:25:43" "" "" "-" "DNA" "blood" "" "0000315403" "00314230" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315404" "00314231" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315405" "00314232" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000375907" "00374713" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000389926" "00388684" "1" "00006" "00006" "2021-11-04 20:51:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000393248" "00392006" "1" "03501" "00006" "2021-11-19 15:49:45" "" "" "SEQ-NG" "DNA" "" "screened DMD, DNAJB6" "0000396876" "00395637" "1" "00006" "00006" "2021-12-08 16:53:47" "" "" "SEQ" "DNA" "" "" "0000396877" "00395638" "1" "00006" "00006" "2021-12-08 16:56:34" "" "" "SEQ" "DNA" "" "" "0000400250" "00399005" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" "0000469900" "00468234" "1" "00006" "00006" "2025-11-07 14:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 30 "{{screeningid}}" "{{geneid}}" "0000094189" "DNAJB6" "0000206453" "DNAJB6" "0000206454" "DNAJB6" "0000206455" "DNAJB6" "0000206456" "DNAJB6" "0000206457" "DNAJB6" "0000206458" "DNAJB6" "0000206459" "DNAJB6" "0000206460" "DNAJB6" "0000206461" "DNAJB6" "0000206462" "DNAJB6" "0000206463" "DNAJB6" "0000206464" "DNAJB6" "0000206465" "DNAJB6" "0000206466" "DNAJB6" "0000206467" "DNAJB6" "0000206468" "DNAJB6" "0000206469" "DNAJB6" "0000206470" "DNAJB6" "0000206471" "DNAJB6" "0000206472" "DNAJB6" "0000206473" "DNAJB6" "0000206474" "DNAJB6" "0000266778" "DNAJB6" "0000315403" "DNAJB6" "0000315404" "DNAJB6" "0000315405" "DNAJB6" "0000375907" "DNAJB6" "0000396876" "DNAJB6" "0000396877" "DNAJB6" ## 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 = 149 "{{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}}" "0000152731" "0" "90" "7" "157160118" "157160118" "subst" "0" "01860" "DNAJB6_000017" "g.157160118C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.157367424C>T" "" "pathogenic" "" "0000246611" "0" "10" "7" "157159176" "157159176" "subst" "0.0364527" "02330" "DNAJB6_000017" "g.157159176A>G" "" "" "" "DNAJB6(NM_005494.2):c.176-20A>G (p.(=)), DNAJB6(NM_058246.4):c.176-20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157366482A>G" "" "benign" "" "0000249111" "0" "10" "7" "157162103" "157162103" "subst" "0" "02325" "DNAJB6_000009" "g.157162103A>G" "" "" "" "DNAJB6(NM_058246.4):c.346+1926A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157369409A>G" "" "benign" "" "0000265379" "0" "10" "7" "157208704" "157208704" "subst" "0.00144578" "02330" "DNAJB6_000012" "g.157208704C>T" "" "" "" "DNAJB6(NM_058246.3):c.899-6C>T (p.(=)), DNAJB6(NM_058246.4):c.899-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157416010C>T" "" "benign" "" "0000267474" "0" "10" "7" "157162068" "157162068" "subst" "0" "02325" "DNAJB6_000008" "g.157162068T>C" "" "" "" "DNAJB6(NM_058246.4):c.346+1891T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157369374T>C" "" "benign" "" "0000270827" "0" "30" "7" "157202503" "157202503" "subst" "0.000282468" "02326" "DNAJB6_000011" "g.157202503G>A" "" "" "" "DNAJB6(NM_058246.4):c.706G>A (p.D236N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157409809G>A" "" "likely benign" "" "0000331991" "0" "30" "7" "157160110" "157160110" "subst" "0.00141318" "01804" "DNAJB6_000049" "g.157160110C>T" "" "" "" "DNAJB6(NM_005494.2):c.279C>T (p.(Phe93=)), DNAJB6(NM_058246.3):c.279C>T (p.F93=), DNAJB6(NM_058246.4):c.279C>T (p.F93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157367416C>T" "" "likely benign" "" "0000331992" "0" "30" "7" "157175056" "157175056" "subst" "0" "01804" "DNAJB6_000010" "g.157175056T>A" "" "" "" "DNAJB6(NM_005494.2):c.463T>A (p.(Ser155Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157382362T>A" "" "likely benign" "" "0000346945" "0" "50" "7" "157177597" "157177597" "subst" "0" "02327" "DNAJB6_000014" "g.157177597T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157384903T>C" "" "VUS" "" "0000348102" "0" "70" "7" "157160104" "157160104" "subst" "0" "02327" "DNAJB6_000013" "g.157160104C>G" "" "" "" "DNAJB6(NM_058246.4):c.273C>G (p.F91L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.157367410C>G" "" "likely pathogenic" "" "0000398529" "1" "70" "7" "157159250" "157159250" "subst" "1.21897E-5" "00006" "DNAJB6_000015" "g.157159250G>A" "" "{PMID:Fichna 2018:29970176}" "" "" "ACMG grading: PS2, PP2, PP3; additional variants in COL6A2, DAG1, DYSF, ISPD, NEB, RYR1, SYNE1, CHRNE, TTN x3" "Germline" "" "" "0" "" "" "g.157366556G>A" "" "likely pathogenic" "ACMG" "0000436048" "1" "90" "7" "157160110" "157160110" "subst" "0" "00006" "DNAJB6_000001" "g.157160110C>G" "" "{PMID:Sarparanta 2012:22366786}" "" "" "not in 404 control chromosomes; segregates" "Germline" "" "" "0" "" "" "g.157367416C>G" "" "pathogenic (dominant)" "" "0000436049" "1" "90" "7" "157160110" "157160110" "subst" "0" "00006" "DNAJB6_000001" "g.157160110C>G" "" "{PMID:Sarparanta 2012:22366786}" "" "" "not in 404 control chromosomes; segregates" "Germline" "" "" "0" "" "" "g.157367416C>G" "" "pathogenic (dominant)" "" "0000436050" "1" "90" "7" "157160110" "157160110" "subst" "0" "00006" "DNAJB6_000001" "g.157160110C>G" "" "{PMID:Sarparanta 2012:22366786}" "" "" "not in 404 control chromosomes; segregates" "Germline" "" "" "0" "" "" "g.157367416C>G" "" "pathogenic (dominant)" "" "0000436051" "1" "90" "7" "157160110" "157160110" "subst" "0" "00006" "DNAJB6_000001" "g.157160110C>G" "" "{PMID:Sarparanta 2012:22366786}" "" "" "mapped by linkage; not in 404 control chromosomes; segregates" "Germline" "" "" "0" "" "" "g.157367416C>G" "" "pathogenic (dominant)" "" "0000436052" "1" "90" "7" "157160110" "157160110" "subst" "0" "00006" "DNAJB6_000001" "g.157160110C>G" "" "{PMID:Sarparanta 2012:22366786}" "" "" "mapped by linkage; not in 404 control chromosomes; segregates" "Germline" "" "" "0" "" "" "g.157367416C>G" "" "pathogenic (dominant)" "" "0000436053" "0" "90" "7" "157160096" "157160096" "subst" "0" "00464" "DNAJB6_000002" "g.157160096T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.157367402T>A" "" "pathogenic (dominant)" "" "0000436054" "1" "90" "7" "157160096" "157160096" "subst" "0" "00006" "DNAJB6_000002" "g.157160096T>A" "" "{PMID:Sarparanta 2012:22366786}" "" "267T>A" "mapped by linkage; not in 430 control chromosomes; segregates; variant 267T>A error (see FigS2c)" "Germline" "" "" "0" "" "" "g.157367402T>A" "" "pathogenic (dominant)" "" "0000436055" "1" "90" "7" "157160096" "157160096" "subst" "0" "00006" "DNAJB6_000002" "g.157160096T>A" "" "{PMID:Sarparanta 2012:22366786}" "" "" "mapped by linkage; not in 430 control chromosomes; segregates" "Germline" "" "" "0" "" "" "g.157367402T>A" "" "pathogenic (dominant)" "" "0000436056" "0" "90" "7" "157160096" "157160096" "subst" "0" "00464" "DNAJB6_000002" "g.157160096T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.157367402T>A" "" "pathogenic (dominant)" "" "0000436057" "1" "90" "7" "157160110" "157160110" "subst" "0" "00006" "DNAJB6_000003" "g.157160110C>A" "" "{PMID:Sarparanta 2012:22366786}" "" "" "not in 208 control chromosomes; segregates" "Germline" "" "" "0" "" "" "g.157367416C>A" "" "pathogenic (dominant)" "" "0000436058" "1" "90" "7" "157160108" "157160108" "subst" "0" "00006" "DNAJB6_000004" "g.157160108T>C" "" "{PMID:Harms 2012:22334415}" "" "" "segregates, confirmed by linkage LOD=3.00; not in 1383 European-American control exomes" "Germline" "" "" "0" "" "" "g.157367414T>C" "" "pathogenic (dominant)" "" "0000436059" "1" "90" "7" "157160108" "157160108" "subst" "0" "00006" "DNAJB6_000004" "g.157160108T>C" "" "{PMID:Harms 2012:22334415}" "" "" "segregates, confirmed by linkage LOD=3.00; not in 1383 European-American control exomes" "Germline" "" "" "0" "" "" "g.157367414T>C" "" "pathogenic (dominant)" "" "0000436060" "1" "90" "7" "157160108" "157160108" "subst" "0" "00006" "DNAJB6_000004" "g.157160108T>C" "" "{PMID:Harms 2012:22334415}" "" "" "segregates, confirmed by linkage LOD=3.00; not in 1383 European-American control exomes" "Germline" "" "" "0" "" "" "g.157367414T>C" "" "pathogenic (dominant)" "" "0000436061" "1" "90" "7" "157160108" "157160108" "subst" "0" "00006" "DNAJB6_000004" "g.157160108T>C" "" "{PMID:Harms 2012:22334415}" "" "" "segregates, confirmed by linkage LOD=3.00; not in 1383 European-American control exomes" "Germline" "" "" "0" "" "" "g.157367414T>C" "" "pathogenic (dominant)" "" "0000436062" "1" "90" "7" "157160108" "157160108" "subst" "0" "00006" "DNAJB6_000004" "g.157160108T>C" "" "{PMID:Harms 2012:22334415}" "" "" "segregates, confirmed by linkage LOD=3.00; not in 1383 European-American control exomes" "Germline" "" "" "0" "" "" "g.157367414T>C" "" "pathogenic (dominant)" "" "0000436063" "1" "90" "7" "157160108" "157160108" "subst" "0" "00006" "DNAJB6_000004" "g.157160108T>C" "" "{PMID:Sarparanta 2012:22366786}" "" "" "not in 208 control chromosomes; segregates" "Germline" "" "" "0" "" "" "g.157367414T>C" "" "pathogenic (dominant)" "" "0000436064" "1" "90" "7" "157160118" "157160118" "subst" "0" "00006" "DNAJB6_000005" "g.157160118C>G" "" "{PMID:Harms 2012:22334415}" "" "" "segregates; not in 1081 African-America control exomes" "Germline" "" "" "0" "" "" "g.157367424C>G" "" "pathogenic (dominant)" "" "0000436065" "1" "90" "7" "157160118" "157160118" "subst" "0" "00006" "DNAJB6_000005" "g.157160118C>G" "" "{PMID:Harms 2012:22334415}" "" "" "segregates; not in 1081 African-America control exomes" "Germline" "" "" "0" "" "" "g.157367424C>G" "" "pathogenic (dominant)" "" "0000436066" "1" "90" "7" "157160118" "157160118" "subst" "0" "00006" "DNAJB6_000005" "g.157160118C>G" "" "{PMID:Harms 2012:22334415}" "" "" "segregates; not in 1081 African-America control exomes" "Germline" "" "" "0" "" "" "g.157367424C>G" "" "pathogenic (dominant)" "" "0000436067" "0" "50" "7" "157160102" "157160102" "subst" "0" "03103" "DNAJB6_000006" "g.157160102T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.157367408T>C" "" "VUS" "" "0000436068" "0" "50" "7" "157160102" "157160102" "subst" "0" "03103" "DNAJB6_000007" "g.157160102T>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.157367408T>A" "" "VUS" "" "0000436069" "10" "90" "7" "157160102" "157160102" "subst" "0" "03102" "DNAJB6_000006" "g.157160102T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.157367408T>C" "" "pathogenic" "" "0000436070" "0" "90" "7" "0" "0" "" "0" "00006" "DNAJB6_000000" "g.?" "" "{PMID:Sarparanta 2012:22366786}" "" "" "mRNA infection expression in zebrafish embryos; loss of function from DNAJB6b" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000436071" "0" "90" "7" "0" "0" "" "0" "00006" "DNAJB6_000000" "g.?" "" "{PMID:Sarparanta 2012:22366786}" "" "" "mRNA infection expression in zebrafish embryos; loss of function from DNAJB6b" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000436072" "0" "10" "7" "0" "0" "" "0" "00006" "DNAJB6_000000" "g.?" "" "{PMID:Sarparanta 2012:22366786}" "" "" "mRNA infection expression in zebrafish embryos; no effect" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000436073" "0" "90" "7" "157160110" "157160110" "subst" "0" "00006" "DNAJB6_000001" "g.157160110C>G" "" "{PMID:Sarparanta 2012:22366786}" "" "" "293FT cell expression increased DNAJB6 half-life (increased effect p.= co-expressed)" "In vitro (cloned)" "" "" "0" "" "" "g.157367416C>G" "" "NA" "" "0000436074" "0" "10" "7" "157160110" "157160110" "subst" "0" "00006" "DNAJB6_000001" "g.157160110C>G" "" "{PMID:Sarparanta 2012:22366786}" "" "" "COS-1 cell expression co-IP, no effect on oligomerisation" "In vitro (cloned)" "" "" "0" "" "" "g.157367416C>G" "" "NA" "" "0000436075" "0" "10" "7" "157160110" "157160110" "subst" "0" "00006" "DNAJB6_000001" "g.157160110C>G" "" "{PMID:Sarparanta 2012:22366786}" "" "" "COS-1 cell expression, no effect on BAG3, HSPB8 and STUB1 co-IP" "In vitro (cloned)" "" "" "0" "" "" "g.157367416C>G" "" "NA" "" "0000436076" "0" "90" "7" "157160110" "157160110" "subst" "0" "00006" "DNAJB6_000001" "g.157160110C>G" "" "{PMID:Sarparanta 2012:22366786}" "" "" "expression cloning with pEGFP/HD-120Q significantly impaired anti-aggregation function" "In vitro (cloned)" "" "" "0" "" "" "g.157367416C>G" "" "NA" "" "0000436077" "0" "90" "7" "157160110" "157160110" "subst" "0" "00006" "DNAJB6_000001" "g.157160110C>G" "" "{PMID:Sarparanta 2012:22366786}" "" "" "mRNA infection expression in zebrafish embryos; loss of function from DNAJB6b (not DNAJB6a), effect more severe when p.= coinjected" "In vitro (cloned)" "" "" "0" "" "" "g.157367416C>G" "" "NA" "" "0000436078" "0" "90" "7" "157160096" "157160096" "subst" "0" "00006" "DNAJB6_000002" "g.157160096T>A" "" "{PMID:Sarparanta 2012:22366786}" "" "267T>A" "293FT cell expression increased DNAJB6 half-life (increased effect p.= co-expressed)" "In vitro (cloned)" "" "" "0" "" "" "g.157367402T>A" "" "NA" "" "0000436079" "0" "10" "7" "157160096" "157160096" "subst" "0" "00006" "DNAJB6_000002" "g.157160096T>A" "" "{PMID:Sarparanta 2012:22366786}" "" "267T>A" "COS-1 cell expression, no effect on BAG3, HSPB8 and STUB1 co-IP" "In vitro (cloned)" "" "" "0" "" "" "g.157367402T>A" "" "NA" "" "0000436080" "0" "90" "7" "157160096" "157160096" "subst" "0" "00006" "DNAJB6_000002" "g.157160096T>A" "" "{PMID:Sarparanta 2012:22366786}" "" "267T>A" "expression cloning with pEGFP/HD-120Q significantly impaired anti-aggregation function" "In vitro (cloned)" "" "" "0" "" "" "g.157367402T>A" "" "NA" "" "0000436081" "0" "90" "7" "157160096" "157160096" "subst" "0" "00006" "DNAJB6_000002" "g.157160096T>A" "" "{PMID:Sarparanta 2012:22366786}" "" "267T>A" "mRNA infection expression in zebrafish embryos; loss of function from DNAJB6b (not DNAJB6a), effect more severe when p.= coinjected" "In vitro (cloned)" "" "" "0" "" "" "g.157367402T>A" "" "NA" "" "0000462892" "1" "90" "7" "157160096" "157160096" "subst" "0" "00430" "DNAJB6_000002" "g.157160096T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157367402T>A" "" "pathogenic" "" "0000462893" "1" "50" "7" "157177629" "157177629" "subst" "8.12684E-6" "00430" "DNAJB6_000029" "g.157177629A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157384935A>G" "" "VUS" "" "0000462894" "1" "50" "7" "157178275" "157178275" "subst" "0" "00430" "DNAJB6_000031" "g.157178275G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157385581G>A" "" "VUS" "" "0000462895" "1" "50" "7" "157208773" "157208773" "subst" "0.000473326" "00430" "DNAJB6_000046" "g.157208773C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157416079C>T" "" "VUS" "" "0000462896" "1" "90" "7" "157160110" "157160110" "subst" "0" "00430" "DNAJB6_000001" "g.157160110C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157367416C>G" "" "pathogenic" "" "0000462897" "1" "50" "7" "157208795" "157208795" "subst" "0.000210759" "00430" "DNAJB6_000047" "g.157208795C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157416101C>T" "" "VUS" "" "0000462898" "1" "50" "7" "157208769" "157208770" "delins" "0" "00430" "DNAJB6_000044" "g.157208769_157208770delinsTC" "" "{PMID:Nallamilli 2018:30564623}" "" "958_959delAAinsTC" "" "Germline" "" "" "0" "" "" "g.157416075_157416076delinsTC" "" "VUS" "" "0000462899" "1" "90" "7" "157160096" "157160096" "subst" "0" "00430" "DNAJB6_000002" "g.157160096T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157367402T>A" "" "pathogenic" "" "0000462900" "1" "90" "7" "157160096" "157160096" "subst" "0" "00430" "DNAJB6_000002" "g.157160096T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "consistent with diagnosis LGMD" "Germline" "" "" "0" "" "" "g.157367402T>A" "" "pathogenic" "" "0000462901" "1" "90" "7" "157160096" "157160096" "subst" "0" "00430" "DNAJB6_000002" "g.157160096T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157367402T>A" "" "pathogenic" "" "0000462902" "1" "90" "7" "157160096" "157160096" "subst" "0" "00430" "DNAJB6_000002" "g.157160096T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157367402T>A" "" "pathogenic" "" "0000462903" "1" "50" "7" "157208739" "157208739" "subst" "1.21837E-5" "00430" "DNAJB6_000041" "g.157208739C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157416045C>A" "" "VUS" "" "0000462904" "1" "50" "7" "157175003" "157175003" "subst" "4.083E-5" "00430" "DNAJB6_000026" "g.157175003C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157382309C>T" "" "VUS" "" "0000462905" "1" "50" "7" "157208773" "157208773" "subst" "0.000473326" "00430" "DNAJB6_000046" "g.157208773C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157416079C>T" "" "VUS" "" "0000462906" "1" "50" "7" "157202657" "157202657" "subst" "0.00080678" "00430" "DNAJB6_000036" "g.157202657G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157409963G>A" "" "VUS" "" "0000462907" "1" "50" "7" "157177653" "157177653" "subst" "0" "00430" "DNAJB6_000030" "g.157177653A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157384959A>G" "" "VUS" "" "0000462908" "1" "90" "7" "157160096" "157160096" "subst" "0" "00430" "DNAJB6_000002" "g.157160096T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157367402T>A" "" "pathogenic" "" "0000462909" "1" "50" "7" "157208769" "157208771" "del" "0" "00430" "DNAJB6_000045" "g.157208769_157208771del" "" "{PMID:Nallamilli 2018:30564623}" "" "958_960delAAG" "" "Germline" "" "" "0" "" "" "g.157416075_157416077del" "" "VUS" "" "0000462910" "1" "50" "7" "157208769" "157208771" "del" "0" "00430" "DNAJB6_000045" "g.157208769_157208771del" "" "{PMID:Nallamilli 2018:30564623}" "" "958_960delAAG" "" "Germline" "" "" "0" "" "" "g.157416075_157416077del" "" "VUS" "" "0000462911" "1" "50" "7" "157208769" "157208771" "del" "0" "00430" "DNAJB6_000045" "g.157208769_157208771del" "" "{PMID:Nallamilli 2018:30564623}" "" "958_960delAAG" "" "Germline" "" "" "0" "" "" "g.157416075_157416077del" "" "VUS" "" "0000462912" "1" "50" "7" "157208769" "157208771" "del" "0" "00430" "DNAJB6_000045" "g.157208769_157208771del" "" "{PMID:Nallamilli 2018:30564623}" "" "958_960delAAG" "" "Germline" "" "" "0" "" "" "g.157416075_157416077del" "" "VUS" "" "0000462913" "1" "90" "7" "157160110" "157160110" "subst" "0" "00430" "DNAJB6_000003" "g.157160110C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157367416C>A" "" "pathogenic" "" "0000462914" "1" "50" "7" "157202518" "157202518" "subst" "8.03303E-6" "00430" "DNAJB6_000032" "g.157202518G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157409824G>A" "" "VUS" "" "0000462915" "1" "50" "7" "157208734" "157208734" "subst" "8.12222E-6" "00430" "DNAJB6_000040" "g.157208734A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157416040A>G" "" "VUS" "" "0000462916" "1" "50" "7" "157160096" "157160096" "subst" "0" "00430" "DNAJB6_000002" "g.157160096T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.157367402T>A" "" "VUS" "" "0000462917" "1" "50" "7" "157175003" "157175003" "subst" "4.083E-5" "00430" "DNAJB6_000026" "g.157175003C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157382309C>T" "" "VUS" "" "0000462918" "1" "50" "7" "157202503" "157202503" "subst" "0.000282468" "00430" "DNAJB6_000011" "g.157202503G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.157409809G>A" "" "VUS" "" "0000462919" "1" "90" "7" "157160096" "157160096" "subst" "0" "00430" "DNAJB6_000002" "g.157160096T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant in DNAJB6" "Germline" "" "" "0" "" "" "g.157367402T>A" "" "pathogenic" "" "0000462920" "1" "50" "7" "157208758" "157208758" "subst" "6.09875E-5" "00430" "DNAJB6_000042" "g.157208758C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157416064C>T" "" "VUS" "" "0000462921" "1" "50" "7" "157160110" "157160110" "subst" "0" "00430" "DNAJB6_000001" "g.157160110C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157367416C>G" "" "VUS" "" "0000462922" "1" "50" "7" "157208795" "157208795" "subst" "0.000210759" "00430" "DNAJB6_000047" "g.157208795C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157416101C>T" "" "VUS" "" "0000462923" "1" "90" "7" "157160110" "157160110" "subst" "0" "00430" "DNAJB6_000003" "g.157160110C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157367416C>A" "" "pathogenic" "" "0000462924" "1" "50" "7" "157208758" "157208758" "subst" "8.13167E-6" "00430" "DNAJB6_000043" "g.157208758C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157416064C>G" "" "VUS" "" "0000462925" "1" "50" "7" "157159250" "157159250" "subst" "0" "00430" "DNAJB6_000022" "g.157159250G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157366556G>T" "" "VUS" "" "0000462926" "1" "50" "7" "157159204" "157159204" "subst" "4.06355E-6" "00430" "DNAJB6_000021" "g.157159204C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157366510C>T" "" "VUS" "" "0000462927" "1" "90" "7" "157160096" "157160096" "subst" "0" "00430" "DNAJB6_000002" "g.157160096T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157367402T>A" "" "pathogenic" "" "0000462928" "1" "50" "7" "157151330" "157151330" "subst" "0" "00430" "DNAJB6_000019" "g.157151330G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157358636G>A" "" "VUS" "" "0000462929" "1" "50" "7" "157202572" "157202572" "subst" "0" "00430" "DNAJB6_000033" "g.157202572C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157409878C>T" "" "VUS" "" "0000462930" "1" "50" "7" "157208773" "157208773" "subst" "0.000473326" "00430" "DNAJB6_000046" "g.157208773C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157416079C>T" "" "VUS" "" "0000462931" "1" "90" "7" "157160096" "157160096" "subst" "0" "00430" "DNAJB6_000002" "g.157160096T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157367402T>A" "" "pathogenic" "" "0000462932" "1" "50" "7" "157202629" "157202629" "subst" "7.61754E-6" "00430" "DNAJB6_000034" "g.157202629G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157409935G>C" "" "VUS" "" "0000462933" "1" "50" "7" "157175021" "157175021" "subst" "4.48496E-5" "00430" "DNAJB6_000027" "g.157175021C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157382327C>T" "" "VUS" "" "0000462934" "1" "50" "7" "157202654" "157202654" "subst" "0" "00430" "DNAJB6_000035" "g.157202654C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157409960C>T" "" "VUS" "" "0000462935" "1" "90" "7" "157160110" "157160110" "subst" "0" "00430" "DNAJB6_000001" "g.157160110C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157367416C>G" "" "pathogenic" "" "0000462936" "1" "50" "7" "157160130" "157160130" "subst" "0" "00430" "DNAJB6_000024" "g.157160130T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157367436T>C" "" "VUS" "" "0000462937" "1" "50" "7" "157202665" "157202665" "subst" "0" "00430" "DNAJB6_000038" "g.157202665G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157409971G>C" "" "VUS" "" "0000462938" "1" "90" "7" "157160096" "157160096" "subst" "0" "00430" "DNAJB6_000002" "g.157160096T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157367402T>A" "" "pathogenic" "" "0000462939" "1" "90" "7" "157160096" "157160096" "subst" "0" "00430" "DNAJB6_000002" "g.157160096T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157367402T>A" "" "pathogenic" "" "0000462940" "1" "90" "7" "157160096" "157160096" "subst" "0" "00430" "DNAJB6_000002" "g.157160096T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157367402T>A" "" "pathogenic" "" "0000462941" "1" "50" "7" "157208773" "157208773" "subst" "0.000473326" "00430" "DNAJB6_000046" "g.157208773C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157416079C>T" "" "VUS" "" "0000462942" "1" "90" "7" "157160096" "157160096" "subst" "0" "00430" "DNAJB6_000002" "g.157160096T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157367402T>A" "" "pathogenic" "" "0000462943" "1" "90" "7" "157160110" "157160110" "subst" "0" "00430" "DNAJB6_000003" "g.157160110C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157367416C>A" "" "pathogenic" "" "0000462944" "1" "50" "7" "157208773" "157208773" "subst" "0.000473326" "00430" "DNAJB6_000046" "g.157208773C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157416079C>T" "" "VUS" "" "0000462945" "1" "90" "7" "157160096" "157160096" "subst" "0" "00430" "DNAJB6_000002" "g.157160096T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.157367402T>A" "" "pathogenic" "" "0000462946" "1" "50" "7" "157208739" "157208739" "subst" "1.21837E-5" "00430" "DNAJB6_000041" "g.157208739C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157416045C>A" "" "VUS" "" "0000462947" "1" "90" "7" "157160096" "157160096" "subst" "0" "00430" "DNAJB6_000002" "g.157160096T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157367402T>A" "" "pathogenic" "" "0000462948" "1" "50" "7" "157208773" "157208773" "subst" "0.000473326" "00430" "DNAJB6_000046" "g.157208773C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157416079C>T" "" "VUS" "" "0000462949" "1" "50" "7" "157202503" "157202503" "subst" "0.000282468" "00430" "DNAJB6_000011" "g.157202503G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157409809G>A" "" "VUS" "" "0000462950" "1" "50" "7" "157208758" "157208758" "subst" "8.13167E-6" "00430" "DNAJB6_000043" "g.157208758C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.157416064C>G" "" "VUS" "" "0000462951" "1" "50" "7" "157202688" "157202688" "subst" "0" "00430" "DNAJB6_000039" "g.157202688C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157409994C>T" "" "VUS" "" "0000462952" "1" "90" "7" "157160096" "157160096" "subst" "0" "00430" "DNAJB6_000002" "g.157160096T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157367402T>A" "" "pathogenic" "" "0000462953" "1" "50" "7" "157151260" "157151260" "subst" "0" "00430" "DNAJB6_000018" "g.157151260G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157358566G>A" "" "VUS" "" "0000462954" "1" "50" "7" "157202503" "157202503" "subst" "0.000282468" "00430" "DNAJB6_000011" "g.157202503G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157409809G>A" "" "VUS" "" "0000462955" "1" "90" "7" "157160096" "157160096" "subst" "0" "00430" "DNAJB6_000002" "g.157160096T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.157367402T>A" "" "pathogenic" "" "0000462956" "1" "50" "7" "157202659" "157202659" "subst" "0" "00430" "DNAJB6_000037" "g.157202659G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157409965G>A" "" "VUS" "" "0000462957" "1" "90" "7" "157160096" "157160096" "subst" "0" "00430" "DNAJB6_000002" "g.157160096T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157367402T>A" "" "pathogenic" "" "0000462958" "1" "90" "7" "157160096" "157160096" "subst" "0" "00430" "DNAJB6_000002" "g.157160096T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157367402T>A" "" "pathogenic" "" "0000462959" "1" "90" "7" "157160102" "157160102" "subst" "0" "00430" "DNAJB6_000023" "g.157160102T>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157367408T>G" "" "pathogenic" "" "0000462960" "1" "90" "7" "157160104" "157160104" "subst" "0" "00430" "DNAJB6_000013" "g.157160104C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157367410C>G" "" "pathogenic" "" "0000462961" "1" "90" "7" "157160096" "157160096" "subst" "0" "00430" "DNAJB6_000002" "g.157160096T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157367402T>A" "" "pathogenic" "" "0000462962" "1" "50" "7" "157155938" "157155938" "subst" "0" "00430" "DNAJB6_000020" "g.157155938C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.157363244C>T" "" "VUS" "" "0000462963" "1" "90" "7" "157160096" "157160096" "subst" "0" "00430" "DNAJB6_000002" "g.157160096T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157367402T>A" "" "pathogenic" "" "0000462964" "1" "90" "7" "157160118" "157160118" "subst" "0" "00430" "DNAJB6_000005" "g.157160118C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.157367424C>G" "" "pathogenic" "" "0000462965" "1" "50" "7" "157174974" "157174974" "subst" "8.27595E-6" "00430" "DNAJB6_000025" "g.157174974G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.157382280G>T" "" "VUS" "" "0000462966" "1" "50" "7" "157208769" "157208771" "del" "0" "00430" "DNAJB6_000045" "g.157208769_157208771del" "" "{PMID:Nallamilli 2018:30564623}" "" "958_960delAAG" "" "Germline" "" "" "0" "" "" "g.157416075_157416077del" "" "VUS" "" "0000462967" "1" "90" "7" "157160096" "157160096" "subst" "0" "00430" "DNAJB6_000002" "g.157160096T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157367402T>A" "" "pathogenic" "" "0000462968" "1" "50" "7" "157175069" "157175069" "subst" "0.000103095" "00430" "DNAJB6_000028" "g.157175069C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.157382375C>T" "" "VUS" "" "0000531521" "0" "30" "7" "157151229" "157151229" "subst" "0" "01804" "DNAJB6_000048" "g.157151229T>G" "" "" "" "DNAJB6(NM_005494.2):c.-26-12T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157358535T>G" "" "likely benign" "" "0000531522" "0" "30" "7" "157159176" "157159176" "subst" "0.0364527" "01804" "DNAJB6_000017" "g.157159176A>G" "" "" "" "DNAJB6(NM_005494.2):c.176-20A>G (p.(=)), DNAJB6(NM_058246.4):c.176-20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157366482A>G" "" "likely benign" "" "0000531523" "0" "30" "7" "157208772" "157208772" "subst" "0.00037927" "01804" "DNAJB6_000050" "g.157208772T>C" "" "" "" "DNAJB6(NM_058246.3):c.961T>C (p.(Ser321Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157416078T>C" "" "likely benign" "" "0000597595" "1" "90" "7" "157160118" "157160118" "subst" "0" "00006" "DNAJB6_000017" "g.157160118C>T" "" "{PMID:Monies 2016:27671536}" "" "" "ACMG PP1-S, PM2, PP1-M, PP1, PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.157367424C>T" "" "pathogenic" "ACMG" "0000611006" "0" "50" "7" "157155929" "157155929" "subst" "0" "01804" "DNAJB6_000051" "g.157155929A>G" "" "" "" "DNAJB6(NM_058246.3):c.140A>G (p.(Lys47Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.157363235A>G" "" "VUS" "" "0000644802" "0" "90" "7" "157160102" "157160102" "subst" "0" "03564" "DNAJB6_000007" "g.157160102T>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.157367408T>A" "" "pathogenic" "" "0000678060" "0" "30" "7" "157160110" "157160110" "subst" "0.00141318" "02326" "DNAJB6_000049" "g.157160110C>T" "" "" "" "DNAJB6(NM_005494.2):c.279C>T (p.(Phe93=)), DNAJB6(NM_058246.3):c.279C>T (p.F93=), DNAJB6(NM_058246.4):c.279C>T (p.F93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678061" "0" "50" "7" "157178269" "157178269" "subst" "0" "02327" "DNAJB6_000052" "g.157178269G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000697492" "0" "70" "7" "157160110" "157160110" "subst" "0" "00006" "DNAJB6_000001" "g.157160110C>G" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.157367416C>G" "" "likely pathogenic" "" "0000697493" "0" "70" "7" "157177690" "157177690" "subst" "8.12592E-6" "00006" "DNAJB6_000053" "g.157177690T>C" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.157384996T>C" "" "likely pathogenic" "" "0000697494" "0" "70" "7" "157208781" "157208781" "subst" "0" "00006" "DNAJB6_000054" "g.157208781G>T" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.157416087G>T" "" "likely pathogenic" "" "0000721391" "0" "30" "7" "157160110" "157160110" "subst" "0.00141318" "01943" "DNAJB6_000049" "g.157160110C>T" "" "" "" "DNAJB6(NM_005494.2):c.279C>T (p.(Phe93=)), DNAJB6(NM_058246.3):c.279C>T (p.F93=), DNAJB6(NM_058246.4):c.279C>T (p.F93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000787258" "0" "50" "7" "157202503" "157202503" "subst" "0.000282468" "00006" "DNAJB6_000011" "g.157202503G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs556999563" "0" "" "" "g.157409809G>A" "{CV-RCV:000648072.1}" "VUS" "" "0000803077" "0" "30" "7" "157155967" "157155967" "subst" "0" "01943" "DNAJB6_000055" "g.157155967G>A" "" "" "" "DNAJB6(NM_058246.3):c.175+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000819197" "0" "90" "7" "157160104" "157160104" "subst" "0" "00006" "DNAJB6_000013" "g.157160104C>G" "" "{PMID:Chakravorty 2020:33250842}" "" "" "" "Germline" "" "" "0" "" "" "g.157367410C>G" "" "pathogenic (dominant)" "ACMG" "0000823911" "0" "50" "7" "157202585" "157202585" "subst" "0" "03501" "DNAJB6_000056" "g.157202585C>T" "" "{PMID:Karthikeyan 2024:39548682}" "" "" "Novel variant (2021)" "Germline/De novo (untested)" "" "" "0" "" "" "g.157409891C>T" "" "VUS" "" "0000828581" "10" "90" "7" "157160096" "157160096" "subst" "0" "00006" "DNAJB6_000002" "g.157160096T>A" "" "{PMID:Kim 2018:29869469}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000828582" "11" "90" "7" "157160129" "157160129" "subst" "0" "00006" "DNAJB6_000057" "g.157160129T>A" "" "{PMID:Kim 2018:29869469}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000833057" "1" "70" "7" "157208773" "157208773" "subst" "0.000473326" "00006" "DNAJB6_000046" "g.157208773C>T" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.157416079C>T" "" "likely pathogenic" "" "0000851565" "0" "30" "7" "157174926" "157174926" "subst" "2.76434E-5" "01804" "DNAJB6_000058" "g.157174926A>T" "" "" "" "DNAJB6(NM_005494.2):c.347-14A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860713" "0" "30" "7" "157208704" "157208704" "subst" "0.00144578" "01804" "DNAJB6_000012" "g.157208704C>T" "" "" "" "DNAJB6(NM_058246.3):c.899-6C>T (p.(=)), DNAJB6(NM_058246.4):c.899-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924694" "0" "50" "7" "157160131" "157160131" "subst" "0" "02327" "DNAJB6_000059" "g.157160131C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996388" "0" "90" "7" "157160104" "157160104" "subst" "0" "02325" "DNAJB6_000013" "g.157160104C>G" "" "" "" "DNAJB6(NM_058246.4):c.273C>G (p.F91L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000996389" "0" "30" "7" "157160107" "157160107" "subst" "3.24863E-5" "01804" "DNAJB6_000061" "g.157160107A>G" "" "" "" "DNAJB6(NM_005494.2):c.276A>G (p.(Thr92=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996390" "0" "30" "7" "157175012" "157175012" "subst" "0" "01804" "DNAJB6_000062" "g.157175012T>G" "" "" "" "DNAJB6(NM_058246.3):c.419T>G (p.(Phe140Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036289" "0" "30" "7" "157202657" "157202657" "subst" "0.00080678" "02326" "DNAJB6_000036" "g.157202657G>A" "" "" "" "DNAJB6(NM_058246.4):c.860G>A (p.R287Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001057958" "0" "70" "7" "157155858" "157155858" "subst" "0" "00006" "DNAJB6_000063" "g.157155858T>A" "" "{PMID:Ayala-Ramirez 2025:41066171}" "" "" "" "Germline" "" "rs759652351" "0" "" "" "g.157363164T>A" "{CV:565410}" "likely pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes DNAJB6 ## Count = 149 "{{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}}" "0000152731" "00024215" "90" "287" "0" "287" "0" "c.287C>T" "r.(?)" "p.(Pro96Leu)" "5" "0000246611" "00024215" "10" "176" "-20" "176" "-20" "c.176-20A>G" "r.(=)" "p.(=)" "" "0000249111" "00024215" "10" "346" "1926" "346" "1926" "c.346+1926A>G" "r.(=)" "p.(=)" "" "0000265379" "00024215" "10" "899" "-6" "899" "-6" "c.899-6C>T" "r.(=)" "p.(=)" "" "0000267474" "00024215" "10" "346" "1891" "346" "1891" "c.346+1891T>C" "r.(=)" "p.(=)" "" "0000270827" "00024215" "30" "706" "0" "706" "0" "c.706G>A" "r.(?)" "p.(Asp236Asn)" "" "0000331991" "00024215" "30" "279" "0" "279" "0" "c.279C>T" "r.(?)" "p.(Phe93=)" "" "0000331992" "00024215" "30" "463" "0" "463" "0" "c.463T>A" "r.(?)" "p.(Ser155Thr)" "" "0000346945" "00024215" "50" "515" "0" "515" "0" "c.515T>C" "r.(?)" "p.(Leu172Pro)" "" "0000348102" "00024215" "70" "273" "0" "273" "0" "c.273C>G" "r.(?)" "p.(Phe91Leu)" "" "0000398529" "00024215" "70" "230" "0" "230" "0" "c.230G>A" "r.(?)" "p.(Gly77Glu)" "" "0000436048" "00024215" "90" "279" "0" "279" "0" "c.279C>G" "r.279c>g" "p.Phe93Leu" "5" "0000436049" "00024215" "90" "279" "0" "279" "0" "c.279C>G" "r.279c>g" "p.Phe93Leu" "5" "0000436050" "00024215" "90" "279" "0" "279" "0" "c.279C>G" "r.279c>g" "p.Phe93Leu" "5" "0000436051" "00024215" "90" "279" "0" "279" "0" "c.279C>G" "r.279c>g" "p.Phe93Leu" "5" "0000436052" "00024215" "90" "279" "0" "279" "0" "c.279C>G" "r.279c>g" "p.Phe93Leu" "5" "0000436053" "00024215" "90" "265" "0" "265" "0" "c.265T>A" "r.(?)" "p.(Phe89Ile)" "5" "0000436054" "00024215" "90" "265" "0" "265" "0" "c.265T>A" "r.267u>a" "p.Phe89Ile" "5" "0000436055" "00024215" "90" "265" "0" "265" "0" "c.265T>A" "r.267u>a" "p.Phe89Ile" "5" "0000436056" "00024215" "90" "265" "0" "265" "0" "c.265T>A" "r.(?)" "p.(Phe89Ile)" "5" "0000436057" "00024215" "90" "279" "0" "279" "0" "c.279C>A" "r.(?)" "p.(Phe93Leu)" "5" "0000436058" "00024215" "90" "277" "0" "277" "0" "c.277T>C" "r.(?)" "p.(Phe93Leu)" "5" "0000436059" "00024215" "90" "277" "0" "277" "0" "c.277T>C" "r.(?)" "p.(Phe93Leu)" "5" "0000436060" "00024215" "90" "277" "0" "277" "0" "c.277T>C" "r.(?)" "p.(Phe93Leu)" "5" "0000436061" "00024215" "90" "277" "0" "277" "0" "c.277T>C" "r.(?)" "p.(Phe93Leu)" "5" "0000436062" "00024215" "90" "277" "0" "277" "0" "c.277T>C" "r.(?)" "p.(Phe93Leu)" "5" "0000436063" "00024215" "90" "277" "0" "277" "0" "c.277T>C" "r.(?)" "p.(Phe93Leu)" "5" "0000436064" "00024215" "90" "287" "0" "287" "0" "c.287C>G" "r.(?)" "p.(Pro96Arg)" "5" "0000436065" "00024215" "90" "287" "0" "287" "0" "c.287C>G" "r.(?)" "p.(Pro96Arg)" "5" "0000436066" "00024215" "90" "287" "0" "287" "0" "c.287C>G" "r.(?)" "p.(Pro96Arg)" "5" "0000436067" "00024215" "50" "271" "0" "271" "0" "c.271T>C" "r.(?)" "p.(Phe91Leu)" "5" "0000436068" "00024215" "50" "271" "0" "271" "0" "c.271T>A" "r.(?)" "p.(Phe91Leu)" "5" "0000436069" "00024215" "90" "271" "0" "271" "0" "c.271T>C" "r.(?)" "p.(Phe91Leu)" "5" "0000436070" "00024215" "90" "0" "0" "0" "0" "c.?" "-" "p.Phe93Ala" "5" "0000436071" "00024215" "90" "0" "0" "0" "0" "c.?" "-" "p.Phe93Gly" "5" "0000436072" "00024215" "10" "0" "0" "0" "0" "c.?" "-" "p.Phe89Gly" "5" "0000436073" "00024215" "90" "279" "0" "279" "0" "c.279C>G" "r.279c>g" "p.Phe93Leu" "5" "0000436074" "00024215" "10" "279" "0" "279" "0" "c.279C>G" "r.279c>g" "p.Phe93Leu" "5" "0000436075" "00024215" "10" "279" "0" "279" "0" "c.279C>G" "r.279c>g" "p.Phe93Leu" "5" "0000436076" "00024215" "90" "279" "0" "279" "0" "c.279C>G" "r.279c>g" "p.Phe93Leu" "5" "0000436077" "00024215" "90" "279" "0" "279" "0" "c.279C>G" "r.279c>g" "p.Phe93Leu" "5" "0000436078" "00024215" "90" "265" "0" "265" "0" "c.265T>A" "r.267u>a" "p.Phe89Ile" "5" "0000436079" "00024215" "10" "265" "0" "265" "0" "c.265T>A" "r.267u>a" "p.Phe89Ile" "5" "0000436080" "00024215" "90" "265" "0" "265" "0" "c.265T>A" "r.267u>a" "p.Phe89Ile" "5" "0000436081" "00024215" "90" "265" "0" "265" "0" "c.265T>A" "r.267u>a" "p.Phe89Ile" "5" "0000462892" "00024215" "90" "265" "0" "265" "0" "c.265T>A" "r.(?)" "p.(Phe89Ile)" "5" "0000462893" "00024215" "50" "547" "0" "547" "0" "c.547A>G" "r.(?)" "p.(Ser183Gly)" "7" "0000462894" "00024215" "50" "661" "0" "661" "0" "c.661G>A" "r.(?)" "p.(Asp221Asn)" "8" "0000462895" "00024215" "50" "962" "0" "962" "0" "c.962C>T" "r.(?)" "p.(Ser321Leu)" "10" "0000462896" "00024215" "90" "279" "0" "279" "0" "c.279C>G" "r.(?)" "p.(Phe93Leu)" "5" "0000462897" "00024215" "50" "984" "0" "984" "0" "c.*3C>T" "r.(?)" "p.(=)" "3\'UTR" "0000462898" "00024215" "50" "958" "0" "959" "0" "c.958_959delinsTC" "r.(?)" "p.(Lys320Ser)" "10" "0000462899" "00024215" "90" "265" "0" "265" "0" "c.265T>A" "r.(?)" "p.(Phe89Ile)" "5" "0000462900" "00024215" "90" "265" "0" "265" "0" "c.265T>A" "r.(?)" "p.(Phe89Ile)" "5" "0000462901" "00024215" "90" "265" "0" "265" "0" "c.265T>A" "r.(?)" "p.(Phe89Ile)" "5" "0000462902" "00024215" "90" "265" "0" "265" "0" "c.265T>A" "r.(?)" "p.(Phe89Ile)" "5" "0000462903" "00024215" "50" "928" "0" "928" "0" "c.928C>A" "r.(?)" "p.(Gln310Lys)" "10" "0000462904" "00024215" "50" "410" "0" "410" "0" "c.410C>T" "r.(?)" "p.(Thr137Met)" "6" "0000462905" "00024215" "50" "962" "0" "962" "0" "c.962C>T" "r.(?)" "p.(Ser321Leu)" "10" "0000462906" "00024215" "50" "860" "0" "860" "0" "c.860G>A" "r.(?)" "p.(Arg287Gln)" "9" "0000462907" "00024215" "50" "571" "0" "571" "0" "c.571A>G" "r.(?)" "p.(Ile191Val)" "7" "0000462908" "00024215" "90" "265" "0" "265" "0" "c.265T>A" "r.(?)" "p.(Phe89Ile)" "5" "0000462909" "00024215" "50" "958" "0" "960" "0" "c.958_960del" "r.(?)" "p.(Lys320del)" "10" "0000462910" "00024215" "50" "958" "0" "960" "0" "c.958_960del" "r.(?)" "p.(Lys320del)" "10" "0000462911" "00024215" "50" "958" "0" "960" "0" "c.958_960del" "r.(?)" "p.(Lys320del)" "10" "0000462912" "00024215" "50" "958" "0" "960" "0" "c.958_960del" "r.(?)" "p.(Lys320del)" "10" "0000462913" "00024215" "90" "279" "0" "279" "0" "c.279C>A" "r.(?)" "p.(Phe93Leu)" "5" "0000462914" "00024215" "50" "721" "0" "721" "0" "c.721G>A" "r.(?)" "p.(Glu241Lys)" "9" "0000462915" "00024215" "50" "923" "0" "923" "0" "c.923A>G" "r.(?)" "p.(Lys308Arg)" "10" "0000462916" "00024215" "50" "265" "0" "265" "0" "c.265T>A" "r.(?)" "p.(Phe89Ile)" "5" "0000462917" "00024215" "50" "410" "0" "410" "0" "c.410C>T" "r.(?)" "p.(Thr137Met)" "6" "0000462918" "00024215" "50" "706" "0" "706" "0" "c.706G>A" "r.(?)" "p.(Asp236Asn)" "9" "0000462919" "00024215" "90" "265" "0" "265" "0" "c.265T>A" "r.(?)" "p.(Phe89Ile)" "5" "0000462920" "00024215" "50" "947" "0" "947" "0" "c.947C>T" "r.(?)" "p.(Ser316Leu)" "10" "0000462921" "00024215" "50" "279" "0" "279" "0" "c.279C>G" "r.(?)" "p.(Phe93Leu)" "5" "0000462922" "00024215" "50" "984" "0" "984" "0" "c.*3C>T" "r.(?)" "p.(=)" "3\' UTR" "0000462923" "00024215" "90" "279" "0" "279" "0" "c.279C>A" "r.(?)" "p.(Phe93Leu)" "5" "0000462924" "00024215" "50" "947" "0" "947" "0" "c.947C>G" "r.(?)" "p.(Ser316Trp)" "10" "0000462925" "00024215" "50" "230" "0" "230" "0" "c.230G>T" "r.(?)" "p.(Gly77Val)" "4" "0000462926" "00024215" "50" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Arg62Trp)" "4" "0000462927" "00024215" "90" "265" "0" "265" "0" "c.265T>A" "r.(?)" "p.(Phe89Ile)" "5" "0000462928" "00024215" "50" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Ala22Thr)" "2" "0000462929" "00024215" "50" "775" "0" "775" "0" "c.775C>T" "r.(?)" "p.(Pro259Ser)" "9" "0000462930" "00024215" "50" "962" "0" "962" "0" "c.962C>T" "r.(?)" "p.(Ser321Leu)" "10" "0000462931" "00024215" "90" "265" "0" "265" "0" "c.265T>A" "r.(?)" "p.(Phe89Ile)" "5" "0000462932" "00024215" "50" "832" "0" "832" "0" "c.832G>C" "r.(?)" "p.(Glu278Gln)" "9" "0000462933" "00024215" "50" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Ala143Val)" "6" "0000462934" "00024215" "50" "857" "0" "857" "0" "c.857C>T" "r.(?)" "p.(Pro286Leu)" "9" "0000462935" "00024215" "90" "279" "0" "279" "0" "c.279C>G" "r.(?)" "p.(Phe93Leu)" "5" "0000462936" "00024215" "50" "299" "0" "299" "0" "c.299T>C" "r.(?)" "p.(Phe100Ser)" "5" "0000462937" "00024215" "50" "868" "0" "868" "0" "c.868G>C" "r.(?)" "p.(Gly290Arg)" "9" "0000462938" "00024215" "90" "265" "0" "265" "0" "c.265T>A" "r.(?)" "p.(Phe89Ile)" "5" "0000462939" "00024215" "90" "265" "0" "265" "0" "c.265T>A" "r.(?)" "p.(Phe89Ile)" "5" "0000462940" "00024215" "90" "265" "0" "265" "0" "c.265T>A" "r.(?)" "p.(Phe89Ile)" "5" "0000462941" "00024215" "50" "962" "0" "962" "0" "c.962C>T" "r.(?)" "p.(Ser321Leu)" "10" "0000462942" "00024215" "90" "265" "0" "265" "0" "c.265T>A" "r.(?)" "p.(Phe89Ile)" "5" "0000462943" "00024215" "90" "279" "0" "279" "0" "c.279C>A" "r.(?)" "p.(Phe93Leu)" "5" "0000462944" "00024215" "50" "962" "0" "962" "0" "c.962C>T" "r.(?)" "p.(Ser321Leu)" "10" "0000462945" "00024215" "90" "265" "0" "265" "0" "c.265T>A" "r.(?)" "p.(Phe89Ile)" "5" "0000462946" "00024215" "50" "928" "0" "928" "0" "c.928C>A" "r.(?)" "p.(Gln310Lys)" "10" "0000462947" "00024215" "90" "265" "0" "265" "0" "c.265T>A" "r.(?)" "p.(Phe89Ile)" "5" "0000462948" "00024215" "50" "962" "0" "962" "0" "c.962C>T" "r.(?)" "p.(Ser321Leu)" "10" "0000462949" "00024215" "50" "706" "0" "706" "0" "c.706G>A" "r.(?)" "p.(Asp236Asn)" "9" "0000462950" "00024215" "50" "947" "0" "947" "0" "c.947C>G" "r.(?)" "p.(Ser316Trp)" "10" "0000462951" "00024215" "50" "891" "0" "891" "0" "c.891C>T" "r.(?)" "p.(=)" "9" "0000462952" "00024215" "90" "265" "0" "265" "0" "c.265T>A" "r.(?)" "p.(Phe89Ile)" "5" "0000462953" "00024215" "50" "-7" "0" "-7" "0" "c.-7G>A" "r.(?)" "p.(=)" "5\' UTR" "0000462954" "00024215" "50" "706" "0" "706" "0" "c.706G>A" "r.(?)" "p.(Asp236Asn)" "9" "0000462955" "00024215" "90" "265" "0" "265" "0" "c.265T>A" "r.(?)" "p.(Phe89Ile)" "5" "0000462956" "00024215" "50" "862" "0" "862" "0" "c.862G>A" "r.(?)" "p.(Ala288Thr)" "9" "0000462957" "00024215" "90" "265" "0" "265" "0" "c.265T>A" "r.(?)" "p.(Phe89Ile)" "5" "0000462958" "00024215" "90" "265" "0" "265" "0" "c.265T>A" "r.(?)" "p.(Phe89Ile)" "5" "0000462959" "00024215" "90" "271" "0" "271" "0" "c.271T>G" "r.(?)" "p.(Phe91Val)" "5" "0000462960" "00024215" "90" "273" "0" "273" "0" "c.273C>G" "r.(?)" "p.(Phe91Leu)" "5" "0000462961" "00024215" "90" "265" "0" "265" "0" "c.265T>A" "r.(?)" "p.(Phe89Ile)" "5" "0000462962" "00024215" "50" "149" "0" "149" "0" "c.149C>T" "r.(?)" "p.(Ala50Val)" "3" "0000462963" "00024215" "90" "265" "0" "265" "0" "c.265T>A" "r.(?)" "p.(Phe89Ile)" "5" "0000462964" "00024215" "90" "287" "0" "287" "0" "c.287C>G" "r.(?)" "p.(Pro96Arg)" "5" "0000462965" "00024215" "50" "381" "0" "381" "0" "c.381G>T" "r.(?)" "p.(Arg127Ser)" "6" "0000462966" "00024215" "50" "958" "0" "960" "0" "c.958_960del" "r.(?)" "p.(Lys320del)" "10" "0000462967" "00024215" "90" "265" "0" "265" "0" "c.265T>A" "r.(?)" "p.(Phe89Ile)" "5" "0000462968" "00024215" "50" "476" "0" "476" "0" "c.476C>T" "r.(?)" "p.(Thr159Ile)" "6" "0000531521" "00024215" "30" "-26" "-12" "-26" "-12" "c.-26-12T>G" "r.(=)" "p.(=)" "" "0000531522" "00024215" "30" "176" "-20" "176" "-20" "c.176-20A>G" "r.(=)" "p.(=)" "" "0000531523" "00024215" "30" "961" "0" "961" "0" "c.961T>C" "r.(?)" "p.(Ser321Pro)" "" "0000597595" "00024215" "90" "287" "0" "287" "0" "c.287C>T" "r.(?)" "p.(Pro96Leu)" "" "0000611006" "00024215" "50" "140" "0" "140" "0" "c.140A>G" "r.(?)" "p.(Lys47Arg)" "" "0000644802" "00024215" "90" "271" "0" "271" "0" "c.271T>A" "r.(?)" "p(Phe91Ile)" "5" "0000678060" "00024215" "30" "279" "0" "279" "0" "c.279C>T" "r.(?)" "p.(Phe93=)" "" "0000678061" "00024215" "50" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Glu219Lys)" "" "0000697492" "00024215" "70" "279" "0" "279" "0" "c.279C>G" "r.(?)" "p.(Phe93Leu)" "" "0000697493" "00024215" "70" "608" "0" "608" "0" "c.608T>C" "r.(?)" "p.(Ile203Thr)" "" "0000697494" "00024215" "70" "970" "0" "970" "0" "c.970G>T" "r.(?)" "p.(Gly324Cys)" "" "0000721391" "00024215" "30" "279" "0" "279" "0" "c.279C>T" "r.(?)" "p.(Phe93=)" "" "0000787258" "00024215" "50" "706" "0" "706" "0" "c.706G>A" "r.(?)" "p.(Asp236Asn)" "9" "0000803077" "00024215" "30" "175" "3" "175" "3" "c.175+3G>A" "r.spl?" "p.?" "" "0000819197" "00024215" "90" "273" "0" "273" "0" "c.273C>G" "r.(?)" "p.(Phe91Leu)" "" "0000823911" "00024215" "50" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Pro263Leu)" "9" "0000828581" "00024215" "90" "265" "0" "265" "0" "c.265T>A" "r.(?)" "p.(Phe89Ile)" "" "0000828582" "00024215" "90" "298" "0" "298" "0" "c.298T>A" "r.(?)" "p.(Phe100Ile)" "" "0000833057" "00024215" "70" "962" "0" "962" "0" "c.962C>T" "r.(?)" "p.(Ser321Leu)" "" "0000851565" "00024215" "30" "347" "-14" "347" "-14" "c.347-14A>T" "r.(=)" "p.(=)" "" "0000860713" "00024215" "30" "899" "-6" "899" "-6" "c.899-6C>T" "r.(=)" "p.(=)" "" "0000924694" "00024215" "50" "300" "0" "300" "0" "c.300C>G" "r.(?)" "p.(Phe100Leu)" "" "0000996388" "00024215" "90" "273" "0" "273" "0" "c.273C>G" "r.(?)" "p.(Phe91Leu)" "" "0000996389" "00024215" "30" "276" "0" "276" "0" "c.276A>G" "r.(?)" "p.(=)" "" "0000996390" "00024215" "30" "419" "0" "419" "0" "c.419T>G" "r.(?)" "p.(Phe140Cys)" "" "0001036289" "00024215" "30" "860" "0" "860" "0" "c.860G>A" "r.(?)" "p.(Arg287Gln)" "" "0001057958" "00024215" "70" "69" "0" "69" "0" "c.69T>A" "r.(?)" "p.(Tyr23Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 113 "{{screeningid}}" "{{variantid}}" "0000094189" "0000152731" "0000175662" "0000398529" "0000206453" "0000436048" "0000206454" "0000436049" "0000206455" "0000436050" "0000206456" "0000436051" "0000206457" "0000436052" "0000206458" "0000436053" "0000206459" "0000436054" "0000206460" "0000436055" "0000206461" "0000436056" "0000206462" "0000436057" "0000206463" "0000436058" "0000206464" "0000436059" "0000206465" "0000436060" "0000206466" "0000436061" "0000206467" "0000436062" "0000206468" "0000436063" "0000206469" "0000436064" "0000206470" "0000436065" "0000206471" "0000436066" "0000206472" "0000436067" "0000206473" "0000436068" "0000206474" "0000436069" "0000220620" "0000462892" "0000220649" "0000462893" "0000220653" "0000462894" "0000220749" "0000462895" "0000220755" "0000462896" "0000220760" "0000462897" "0000220779" "0000462898" "0000220782" "0000462899" "0000220798" "0000462900" "0000220802" "0000462901" "0000220816" "0000462902" "0000220873" "0000462903" "0000220903" "0000462904" "0000220945" "0000462905" "0000220967" "0000462906" "0000220972" "0000462907" "0000220975" "0000462908" "0000221045" "0000462909" "0000221049" "0000462910" "0000221050" "0000462911" "0000221054" "0000462912" "0000221068" "0000462913" "0000221074" "0000462914" "0000221135" "0000462915" "0000221177" "0000462916" "0000221195" "0000462917" "0000221207" "0000462918" "0000221236" "0000462919" "0000221283" "0000462920" "0000221313" "0000462921" "0000221348" "0000462922" "0000221386" "0000462923" "0000221477" "0000462924" "0000221479" "0000462925" "0000221578" "0000462926" "0000221674" "0000462927" "0000221715" "0000462928" "0000221746" "0000462929" "0000221818" "0000462930" "0000221822" "0000462931" "0000221843" "0000462932" "0000221916" "0000462933" "0000221934" "0000462934" "0000221947" "0000462935" "0000221953" "0000462936" "0000221959" "0000462937" "0000222013" "0000462938" "0000222100" "0000462939" "0000222121" "0000462940" "0000222170" "0000462941" "0000222203" "0000462942" "0000222230" "0000462943" "0000222363" "0000462944" "0000222366" "0000462945" "0000222385" "0000462946" "0000222418" "0000462947" "0000222445" "0000462948" "0000222474" "0000462949" "0000222528" "0000462950" "0000222666" "0000462951" "0000222699" "0000462952" "0000222712" "0000462953" "0000222739" "0000462954" "0000222910" "0000462955" "0000222959" "0000462956" "0000223044" "0000462957" "0000223066" "0000462958" "0000223149" "0000462959" "0000223218" "0000462960" "0000223239" "0000462961" "0000223394" "0000462962" "0000223417" "0000462963" "0000223492" "0000462964" "0000223501" "0000462965" "0000223524" "0000462966" "0000223754" "0000462967" "0000223802" "0000462968" "0000266778" "0000597595" "0000288548" "0000644802" "0000315403" "0000697492" "0000315404" "0000697493" "0000315405" "0000697494" "0000375907" "0000787258" "0000389926" "0000819197" "0000393248" "0000823911" "0000396876" "0000828581" "0000396877" "0000828582" "0000400250" "0000833057" "0000469900" "0001057958"