### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PYROXD1) # 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}}" "PYROXD1" "pyridine nucleotide-disulphide oxidoreductase domain 1" "12" "p12.1" "unknown" "NG_053196.1" "UD_132319593505" "" "https://www.LOVD.nl/PYROXD1" "" "1" "26162" "79912" "0" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/PYROXD1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-06-29 18:45:43" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00017236" "PYROXD1" "pyridine nucleotide-disulphide oxidoreductase domain 1" "001" "NM_024854.3" "" "NP_079130.2" "" "" "" "-127" "3999" "1503" "21590538" "21624184" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "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" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05299" "MFM" "myopathy, myofibrillar (MFM)" "" "" "" "" "" "00006" "2017-06-30 15:34:57" "" "" "05474" "MFM8" "myopathy, myofibrillar, type 8 (MFM-8)" "AR" "617258" "" "autosomal recessive" "" "00006" "2018-10-19 06:30:51" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PYROXD1" "05474" ## Individuals ## Do not remove or alter this header ## ## Count = 84 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00183244" "" "" "" "2" "" "00006" "{PMID:O\'Grady 2016:27745833}, {PMID:Cummings 2017:28424332}" "2-generation family, 2 affected, brothers unaffected heterozygous carrier parents" "M" "no" "" "" "0" "" "" "white" "FamA/PatD2" "00183245" "" "" "" "2" "" "00006" "{PMID:O\'Grady 2016:27745833}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "FamBPatII2" "00183246" "" "" "" "2" "" "00006" "{PMID:O\'Grady 2016:27745833}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "M" "no" "Iran" "" "0" "" "" "Iran:Jewish" "FamCPatII1" "00183247" "" "" "" "2" "" "00006" "{PMID:O\'Grady 2016:27745833}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "FamDPatII1" "00183248" "" "" "" "1" "" "00006" "{PMID:O\'Grady 2016:27745833}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "FamEPatII2" "00225599" "" "" "" "1" "" "00006" "{PMID:Saha 2018:30345904}, {DOI:Saha 2018:10.1152/physiolgenomics.00036.2018}" "7-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Sudan" "" "0" "" "" "Arab" "30345904-Fam1288Pat1" "00225607" "" "" "" "1" "" "00006" "{PMID:Sainio 2019:30515627}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "no" "Finland" "" "0" "" "" "" "30515627-Fam1P1" "00225608" "" "" "" "2" "" "00006" "{PMID:Sainio 2019:30515627}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "no" "Finland" "" "0" "" "" "" "30515627-Fam2P2" "00225609" "" "" "" "2" "" "00006" "{PMID:Sainio 2019:30515627}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "no" "Finland" "" "0" "" "" "" "30515627-Fam3P3/P4" "00226274" "" "" "00183244" "1" "" "00006" "{PMID:O\'Grady 2016:27745833}" "younger brother" "M" "no" "" "" "0" "" "" "European" "FamAPatII2" "00226313" "" "" "00183245" "1" "" "00006" "{PMID:O\'Grady 2016:27745833}" "brother" "M" "yes" "Turkey" "" "0" "" "" "" "FamBPatII3" "00226314" "" "" "00183246" "1" "" "00006" "{PMID:O\'Grady 2016:27745833}" "brother" "M" "no" "Iran" "" "0" "" "" "Iran:Jewish" "FamCPatII2" "00226315" "" "" "00183247" "1" "" "00006" "{PMID:O\'Grady 2016:27745833}" "brother" "M" "yes" "Turkey" "" "0" "" "" "" "FamDPatII3" "00227926" "" "" "" "1" "" "00006" "contact me for details" "" "F" "" "" "" "0" "" "" "" "private email" "00288202" "" "" "" "1" "" "00006" "{PMID:Lee 2019:31607746}" "" "" "" "United States" "" "0" "" "" "" "Pat12" "00295510" "" "" "" "1" "" "01164" "" "" "M" "yes" "Turkey" "" "0" "" "" "" "161209" "00314408" "" "" "" "4" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00336098" "" "" "" "1" "" "04020" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "analysis 53461 controls (BRIDGES)" "" "" "" "" "0" "bcac.ccge.medschl.cam.ac.uk/contact" "" "" "" "00341466" "" "" "" "1" "" "04020" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "analysis 53461 controls (BRIDGES)" "" "" "" "" "0" "bcac.ccge.medschl.cam.ac.uk/contact" "" "" "" "00341467" "" "" "" "1" "" "04020" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "analysis 53461 controls (BRIDGES)" "" "" "" "" "0" "bcac.ccge.medschl.cam.ac.uk/contact" "" "" "" "00341468" "" "" "" "1" "" "04020" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "analysis 53461 controls 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"" "00358372" "" "" "" "2" "" "04020" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "analysis 53461 controls (BRIDGES)" "" "" "" "" "0" "bcac.ccge.medschl.cam.ac.uk/contact" "" "" "" "00358373" "" "" "" "1" "" "04020" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "analysis 53461 controls (BRIDGES)" "" "" "" "" "0" "bcac.ccge.medschl.cam.ac.uk/contact" "" "" "" "00358374" "" "" "" "3" "" "04020" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "analysis 53461 controls (BRIDGES)" "" "" "" "" "0" "bcac.ccge.medschl.cam.ac.uk/contact" "" "" "" "00358375" "" "" "" "1" "" "04020" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "analysis 53461 controls (BRIDGES)" "" "" "" "" "0" "bcac.ccge.medschl.cam.ac.uk/contact" "" "" "" "00358376" "" "" "" "7" "" "04020" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "analysis 53461 controls (BRIDGES)" "" "" "" "" "0" "bcac.ccge.medschl.cam.ac.uk/contact" "" "" "" "00358377" "" "" "" "1" "" "04020" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "analysis 53461 controls (BRIDGES)" "" "" "" "" "0" "bcac.ccge.medschl.cam.ac.uk/contact" "" "" "" "00358378" "" "" "" "2" "" "04020" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "analysis 53461 controls (BRIDGES)" "" "" "" "" "0" "bcac.ccge.medschl.cam.ac.uk/contact" "" "" "" "00358379" "" "" "" "2" "" "04020" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "analysis 53461 controls (BRIDGES)" "" "" "" "" "0" "bcac.ccge.medschl.cam.ac.uk/contact" "" "" "" "00358380" "" "" "" "1" "" "04020" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "analysis 53461 controls (BRIDGES)" "" "" "" "" "0" "bcac.ccge.medschl.cam.ac.uk/contact" "" "" "" "00358381" "" "" "" "1" "" "04020" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "analysis 53461 controls (BRIDGES)" "" "" "" "" "0" "bcac.ccge.medschl.cam.ac.uk/contact" "" "" "" "00358382" "" "" "" "2" "" "04020" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "analysis 53461 controls (BRIDGES)" "" "" "" "" "0" "bcac.ccge.medschl.cam.ac.uk/contact" "" "" "" "00358383" "" "" "" "7" "" "04020" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "analysis 53461 controls (BRIDGES)" "" "" "" "" "0" "bcac.ccge.medschl.cam.ac.uk/contact" "" "" "" "00358384" "" "" "" "3" "" "04020" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "analysis 53461 controls (BRIDGES)" "" "" "" "" "0" "bcac.ccge.medschl.cam.ac.uk/contact" "" "" "" "00398957" "" "" "" "1" "" "00006" "{PMID:Natera-de Benito 2021:33333461}" "patient" "F" "" "Spain" "" "0" "" "" "" "Fam54Pat60" "00448529" "" "" "" "1" "" "04620" "" "" "M" "no" "India" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 84 "{{individualid}}" "{{diseaseid}}" "00183244" "05299" "00183245" "05299" "00183246" "05299" "00183247" "05299" "00183248" "05299" "00225599" "05126" "00225607" "05126" "00225608" "05126" "00225609" "05126" "00226274" "05299" "00226313" "05299" "00226314" "05299" "00226315" "05299" "00227926" "00198" "00288202" "00198" "00295510" "00244" "00314408" "05126" "00336098" "00000" "00341466" "00000" "00341467" "00000" "00341468" "00000" "00341469" "00000" "00341470" "00000" "00341471" "00000" "00341472" "00000" "00341473" "00000" "00341474" "00000" "00341475" "00000" "00341476" "00000" "00341477" "00000" "00341478" "00000" "00341479" "00000" "00341945" "00318" "00348678" "00318" "00348679" "00318" "00348680" "00318" "00348681" "00318" "00348682" "00318" "00348683" "00318" "00348684" "00318" "00348685" "00318" "00348686" "00318" "00348687" "00318" "00348688" "00318" "00348689" "00318" "00348690" "00318" "00348691" "00318" "00348692" "00318" "00348693" "00318" "00348694" "00318" "00349203" "00318" "00349377" "00318" "00353595" "00318" "00353596" "00318" "00353597" "00318" "00353598" "00318" "00353599" "00318" "00353600" "00318" "00353601" "00318" "00353602" "00318" "00353603" "00318" "00353604" "00318" "00353605" "00318" "00353606" "00318" "00353607" "00318" "00353608" "00318" "00353979" "00000" "00354153" "00000" "00358371" "00000" "00358372" "00000" "00358373" "00000" "00358374" "00000" "00358375" "00000" "00358376" "00000" "00358377" "00000" "00358378" "00000" "00358379" "00000" "00358380" "00000" "00358381" "00000" "00358382" "00000" "00358383" "00000" "00358384" "00000" "00398957" "00244" "00448529" "00244" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00244, 00318, 05126, 05299, 05474 ## Count = 17 "{{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}}" "0000143974" "05299" "00183244" "00006" "Familial, autosomal recessive" "29y" "5y-difficulty running; 20y-slowly progressive muscle weakness; 24y-unable to climb stairs from, slow walk with cane; symmetrical limb weakness (HP:0001324) (UL, LL, axial; P, D); reduced or absent hyporeflexia (HP:0001265); Achilles contractures (HP:0001771); joint contracture 5th finger (HP:0009183); joint hypermobility (HP:0001382) distal laxity, resolved with age; facial weakness (HP:0002058); no ptosis (-HP:0000508); no ophthalmoplegia (-HP:0000602), high arched palate (HP:0000218), dental malocclusion (HP:0000689), elongated face; 12y-dysphagia (HP:0002015), improved; no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); 20y-mild thoracic scoliosis (HP:0002650); no spinal rigidity (-HP:0003306); pectus excavatum (HP:0000767); scapular winging (HP:0003691); pes cavus (HP:0001761); no pet planus (-HP:0001763); 15y-restrictive lung disease (HP:0002091); no recurrent infections (-HP:0002783); 27y-abnormal septal motion and low normal ejection fraction; no elevated CK (-HP:0040081); histology shows internalized nuclei, central cones, myofibrillar inclusions, sarcomeric disorganization, thin filament accumulations and nemaline rods" "05y" "" "difficulty running" "" "" "" "" "" "MFM-8" "myofibrillar myopathy" "" "0000143975" "05299" "00183245" "00006" "Familial, autosomal recessive" "31y" "onset 8y, stable in childhood, mild progression from teenage years, increasing difficulty with stairs; symmetrical limb weakness (HP:0001324) (UL,LL, axial; P UL, D LL); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (- HP:0009183); no joint hypermobility (-HP:0001382); facial weakness (HP:0002058); no ptosis (-HP:0000508); no ophthalmoplegia (-HP:0000602), no high arched palate (-HP:0000218); dysphagia (HP:0002015); no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); no spinal rigidity (-HP:0003306); no pectus excavatum (HP:0000767); mild scapular winging (HP:0003691); no pes cavus (-HP:0001761); pes planus (HP:0001763); no restrictive lung disease (-HP:0002091); no recurrent infections (-HP:0002783); no cardiac disease; elevated CK (HP:0040081), 3x" "08y" "" "" "" "" "" "" "" "MFM-8" "myofibrillar myopathy" "" "0000143976" "05299" "00183246" "00006" "Familial, autosomal recessive" "09y" "congenital onset hypotonia, mild gross motor delay, 20m-walk, 6y-muscle weakness, increasing difficulty climbing stairs; symmetrical limb weakness (HP:0001324) (symmetrical; UL, LL, axial); reduced or absent hyporeflexia (HP:0001265); Achilles contractures (HP:0001771); joint contracture 5th finger (HP:0009183); joint hypermobility (HP:0001382) elbow and metocarpophalyngeal joints; facial weakness (HP:0002058); no ptosis (-HP:0000508); no ophthalmoplegia (-HP:0000602), high arched palate (HP:0000218); surgical correction int. exotropia (HP:0000577); no dysphagia (-HP:002015); chewing difficulties (HP:0030193); nasal speech (HP:0001611); 7y mild scoliosis (-HP:0002650); spinal rigidity (HP:0003306), thoracolumbar; pectus excavatum (HP:0000767); mild scapular winging (HP:0003691); no pes cavus (-HP:0001761); no pes planus -HP:0001763); no restrictive lung disease (-HP:0002091); recurrent infections (HP:0002783); mild to moderate pulmonic insufficiency; no elevated CK (-HP:0040081)" "00y00m01d" "" "hypotonia" "" "" "" "" "" "MFM-8" "myofibrillar myopathy" "" "0000143977" "05299" "00183247" "00006" "Familial, autosomal recessive" "22y" "onset 2y, ambulant 22y, difficulty running\r\nand climbing, frequent falls, slowly progressive weakness from 20y; symmetrical limb weakness (HP:0001324) (symmetrical; UL, LL; axial P); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (-HP:0009183); no joint hypermobility (-HP:0001382); facial weakness (HP:0002058); mild ptosis (HP:0000508); no ophthalmoplegia (-HP:0000602), high arched palate (HP:0000218); elongated face (HP:0000276); dysphagia (HP:002015); no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); no spinal rigidity (-HP:0003306); no pectus excavatum (-HP:0000767); no scapular winging (-HP:0003691); no pes cavus (-HP:0001761); pes planus (HP:0001763); no restrictive lung disease (-HP:0002091); recurrent infections (HP:0002783);no cardiac disease; elevated CK (HP:0040081) 3x" "02y" "" "" "" "" "" "" "" "MFM-8" "myofibrillar myopathy" "" "0000143978" "05299" "00183248" "00006" "Familial, autosomal recessive" "15y" "onset 4y, easy fatigue, frequent falls, difficulty on stairs, slowly progressive, increasing difficulty with stairs; symmetrical limb weakness (HP:0001324) (symmetrical; UL, LL; P, D); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (-HP:0009183); no joint hypermobility (-HP:0001382); facial weakness (HP:0002058); no ptosis (-HP:0000508); no ophthalmoplegia (-HP:0000602), high arched palate (HP:0000218); dysphagia (HP:002015); no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); no spinal rigidity (-HP:0003306); no pectus excavatum (-HP:0000767); no scapular winging (-HP:0003691); no pes cavus (-HP:0001761); no pes planus -HP:0001763); no restrictive lung disease (-HP:0002091); recurrent infections (HP:0002783); mild mitral and tricuspid insufficiency (HP:0001653); no elevated CK (-HP:0040081); histology shows internalized nuclei, central cones" "04y" "" "easy fatigue" "" "" "" "" "" "MFM-8" "myofibrillar myopathy" "" "0000170711" "05126" "00225599" "00006" "Familial, autosomal recessive" "" "see paper; ..., CK level normal; 37y-loss of ambulation; 46y-no cardiac/respiratory complications" "09y" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000170719" "05126" "00225607" "00006" "Familial, autosomal recessive" "" "see paper; ..., adult-onset" "" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000170720" "05126" "00225608" "00006" "Familial, autosomal recessive" "" "see pape;; ..., adult onset" "" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000170721" "05126" "00225609" "00006" "Familial, autosomal recessive" "" "see paper; .., adult onset" "" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000171400" "05299" "00226274" "00006" "Familial, autosomal recessive" "26y" "onset 8y, stable in childhood, mild progression from teenage years, increasing difficulty with stairs; symmetrical limb weakness (HP:0001324) (UL, LL, axial; P, D); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (-HP:0009183); joint hypermobility (HP:0001382) distal laxity, partial patella subluxations; facial weakness (HP:0002058); no ptosis (-HP:0000508); no ophthalmoplegia (-HP:0000602); high arched palate (HP:0000218); dental malocclusion (HP:0000689), elongated face; dysphagia (HP:0002015), plus nasal regurgitation from 9y, surgery for VPI; no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); no spinal rigidity (-HP:0003306); no pectus excavatum (-HP:0000767); no scapular winging (-HP:0003691); no pes cavus (-HP:0001761); pes planus (HP:0001763); no restrictive lung disease (-HP:0002091); no recurrent infections (-HP:0002783); no cardiac disease; elevated CK (HP:0040081) 5x" "08y" "" "muscle weakness" "" "" "" "" "" "MFM-8" "myofibrillar myopathy" "" "0000171436" "05299" "00226313" "00006" "Familial, autosomal recessive" "31y" "onset 10y, still ambulant 31y; symmetrical limb weakness (HP:0001324) (symmetrical; UL, LL, axial; P); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (- HP:0009183); no joint hypermobility (-HP:0001382); facial weakness (HP:0002058); mild ptosis (HP:0000508); no ophthalmoplegia (-HP:0000602), no high arched palate (-HP:0000218); micrognathia and retrognathia (HP:0000308); no dysphagia (-HP:0002015); no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); no spinal rigidity (-HP:0003306); no pectus excavatum (HP:0000767); mild scapular winging (HP:0003691); no pes cavus (-HP:0001761); pes planus (HP:0001763); restrictive lung disease (HP:0002091); no recurrent infections (-HP:0002783); no cardiac disease; elevated CK (HP:0040081), 4x; histology shows internalized nuclei, central cones, myofibrillar inclusions, sarcomeric disorganization, thin filament accumulations and nemaline rods" "10y" "" "" "" "" "" "" "" "MFM-8" "myofibrillar myopathy" "" "0000171437" "05299" "00226314" "00006" "Familial, autosomal recessive" "07y" "infantile onset hypotonia, 13m-walk, stable strength, difficulty climbing stairs; symmetrical limb weakness (HP:0001324) (symmetrical; UL, LL, axial); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (- HP:0009183); joint hypermobility (HP:0001382) mild at elbow, wrist, and metocarpophalyngeal joints; facial weakness (HP:0002058); no ptosis (-HP:0000508); no ophthalmoplegia (-HP:0000602), high arched palate (HP:0000218); no dysphagia (-HP:0002015); chewing difficulties (HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); spinal rigidity (HP:0003306), thoracolumbar; no pectus excavatum (-HP:0000767); mild asymmetric scapular winging (HP:0003691); no pes cavus (-HP:0001761); no pes planus -HP:0001763); no restrictive lung disease (-HP:0002091); recurrent infections (HP:0002783); no cardiac disease; no elevated CK (-HP:0040081); histology shows internalized nuclei, central cones, myofibrillar inclusions, sarcomeric disorganization" "" "" "hypotonia" "" "" "" "" "" "MFM-8" "myofibrillar myopathy" "" "0000171438" "05299" "00226315" "00006" "Familial, autosomal recessive" "17y" "onset 2y6m, 17y ambulant, difficulty climbing, stable in childhood; symmetrical limb weakness (HP:0001324) (symmetrical; UL, LL; axial P); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (-HP:0009183); no joint hypermobility (-HP:0001382); facial weakness (HP:0002058); mild ptosis (HP:0000508); no ophthalmoplegia (-HP:0000602), high arched palate (HP:0000218); elongated face (HP:0000276); dysphagia (HP:002015); no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); no spinal rigidity (-HP:0003306); no pectus excavatum (-HP:0000767); no scapular winging (-HP:0003691); no pes cavus (-HP:0001761); pes planus (HP:0001763); no restrictive lung disease (-HP:0002091); no recurrent infections (-HP:0002783);no cardiac disease; elevated CK (HP:0040081) 2x; histology shows internalized nuclei, central cones" "02y06m" "" "" "" "" "" "" "" "MFM-8" "myofibrillar myopathy" "" "0000221939" "00198" "00288202" "00006" "Familial, autosomal recessive" "45y" "heart murmur, muscle cramps, difficulty walking, myalgia, skeletal muscle atrophy, gowers sign, progressive muscle weakness, myopathy, generalized amyotrophy, intention tremor, pain, waddling gait, decreased testosterone" "" "" "" "" "" "" "" "" "" "" "" "0000223081" "00244" "00295510" "01164" "Unknown" "28y" "Abnormal palate morphology; Elevated serum creatine kinase; Hyperlordosis; Axial muscle weakness; Proximal muscle weakness in upper limbs" "" "" "" "" "" "" "" "" "" "" "" "0000292046" "00244" "00398957" "00006" "Familial, autosomal recessive" "20y" "weakness; 1y6m-walk; no ptosis; no ophthalmoplegia; facial weakness; flexor weakness; proximal weaksness, distal weakness; scoliosis (no surgery); 20y-no cardiac involvement" "18m" "" "weakness" "" "" "" "" "" "" "congenital myopathy" "" "0000337764" "00244" "00448529" "04620" "Familial, autosomal recessive" "09y" "delay in motor milestones, fatigable proximal limb weakness, difficulty to get up from squatting position, difficulty in doing overhead activities, toe walking with frequent falls, chewing and swallowing difficulties" "04y" "09y" "" "" "" "" "" "" "MFM8" "myopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 84 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000184201" "00183244" "1" "00006" "00006" "2018-10-19 06:37:30" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000184202" "00183245" "1" "00006" "00006" "2018-10-19 06:50:44" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000184203" "00183246" "1" "00006" "00006" "2018-10-19 07:02:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000184204" "00183247" "1" "00006" "00006" "2018-10-19 07:13:02" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000184205" "00183248" "1" "00006" "00006" "2018-10-19 07:23:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000226678" "00225599" "1" "00006" "00006" "2019-02-18 19:47:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226686" "00225607" "1" "00006" "00006" "2019-02-18 20:57:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226687" "00225608" "1" "00006" "00006" "2019-02-18 21:03:40" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000226688" "00225609" "1" "00006" "00006" "2019-02-18 21:06:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000227341" "00226274" "1" "00006" "00006" "2019-03-06 14:32:45" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000227381" "00226313" "1" "00006" "00006" "2019-03-08 08:44:55" "" "" "SEQ" "DNA" "" "" "0000227382" "00226314" "1" "00006" "00006" "2019-03-08 08:59:41" "" "" "SEQ" "DNA" "" "" "0000227383" "00226315" "1" "00006" "00006" "2019-03-08 09:18:07" "" "" "SEQ" "DNA" "" "" "0000229012" "00227926" "1" "00006" "00006" "2019-03-15 14:50:35" "" "" "SEQ" "DNA" "" "WES" "0000289371" "00288202" "1" "00006" "00006" "2020-02-16 14:03:09" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "WES" "0000296678" "00295510" "1" "01164" "01164" "2020-03-12 16:35:58" "" "" "SEQ-NG-I" "DNA" "" "" "0000315581" "00314408" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000337328" "00336098" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342696" "00341466" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342697" "00341467" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342698" "00341468" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342699" "00341469" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342700" "00341470" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342701" "00341471" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342702" "00341472" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342703" "00341473" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342704" "00341474" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342705" "00341475" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342706" "00341476" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342707" "00341477" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342708" "00341478" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000342709" "00341479" "1" "04020" "00006" "2021-03-11 11:28:20" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000343175" "00341945" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349908" "00348678" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349909" "00348679" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349910" "00348680" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349911" "00348681" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349912" "00348682" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349913" "00348683" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349914" "00348684" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349915" "00348685" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349916" "00348686" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349917" "00348687" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349918" "00348688" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349919" "00348689" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349920" "00348690" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349921" "00348691" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349922" "00348692" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349923" "00348693" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000349924" "00348694" "1" "04020" "00006" "2021-03-11 11:58:58" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000350433" "00349203" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000350607" "00349377" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000354825" "00353595" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000354826" "00353596" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000354827" "00353597" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000354828" "00353598" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000354829" "00353599" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000354830" "00353600" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000354831" "00353601" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000354832" "00353602" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000354833" "00353603" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000354834" "00353604" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000354835" "00353605" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000354836" "00353606" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000354837" "00353607" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000354838" "00353608" "1" "04020" "00006" "2021-03-11 12:50:37" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000355209" "00353979" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000355383" "00354153" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000359601" "00358371" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000359602" "00358372" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000359603" "00358373" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000359604" "00358374" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000359605" "00358375" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000359606" "00358376" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000359607" "00358377" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000359608" "00358378" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000359609" "00358379" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000359610" "00358380" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000359611" "00358381" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000359612" "00358382" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000359613" "00358383" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000359614" "00358384" "1" "04020" "00006" "2021-03-11 13:17:33" "" "" "SEQ-NG" "DNA" "" "34-gene panel" "0000400202" "00398957" "1" "00006" "00006" "2022-01-14 16:20:15" "" "" "SEQ;SEQ-NG" "DNA" "" "gene or gene panel" "0000450113" "00448529" "1" "04620" "04620" "2024-03-28 11:20:17" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 84 "{{screeningid}}" "{{geneid}}" "0000184201" "PYROXD1" "0000184202" "PYROXD1" "0000184203" "PYROXD1" "0000184204" "PYROXD1" "0000184205" "PYROXD1" "0000226678" "PYROXD1" "0000226686" "PYROXD1" "0000226687" "PYROXD1" "0000226688" "PYROXD1" "0000227341" "PYROXD1" "0000227381" "PYROXD1" "0000227382" "PYROXD1" "0000227383" "PYROXD1" "0000229012" "PYROXD1" "0000289371" "PYROXD1" "0000296678" "PYROXD1" "0000296678" "RYR1" "0000315581" "PYROXD1" "0000337328" "RECQL" "0000342696" "RECQL" "0000342697" "RECQL" "0000342698" "RECQL" "0000342699" "RECQL" "0000342700" "RECQL" "0000342701" "RECQL" "0000342702" "RECQL" "0000342703" "RECQL" "0000342704" "RECQL" "0000342705" "RECQL" "0000342706" "RECQL" "0000342707" "RECQL" "0000342708" "RECQL" "0000342709" "RECQL" "0000343175" "RECQL" "0000349908" "RECQL" "0000349909" "RECQL" "0000349910" "RECQL" "0000349911" "RECQL" "0000349912" "RECQL" "0000349913" "RECQL" "0000349914" "RECQL" "0000349915" "RECQL" "0000349916" "RECQL" "0000349917" "RECQL" "0000349918" "RECQL" "0000349919" "RECQL" "0000349920" "RECQL" "0000349921" "RECQL" "0000349922" "RECQL" "0000349923" "RECQL" "0000349924" "RECQL" "0000350433" "RECQL" "0000350607" "RECQL" "0000354825" "RECQL" "0000354826" "RECQL" "0000354827" "RECQL" "0000354828" "RECQL" "0000354829" "RECQL" "0000354830" "RECQL" "0000354831" "RECQL" "0000354832" "RECQL" "0000354833" "RECQL" "0000354834" "RECQL" "0000354835" "RECQL" "0000354836" "RECQL" "0000354837" "RECQL" "0000354838" "RECQL" "0000355209" "RECQL" "0000355383" "RECQL" "0000359601" "RECQL" "0000359602" "RECQL" "0000359603" "RECQL" "0000359604" "RECQL" "0000359605" "RECQL" "0000359606" "RECQL" "0000359607" "RECQL" "0000359608" "RECQL" "0000359609" "RECQL" "0000359610" "RECQL" "0000359611" "RECQL" "0000359612" "RECQL" "0000359613" "RECQL" "0000359614" "RECQL" "0000450113" "PYROXD1" ## 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 = 119 "{{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}}" "0000306906" "0" "50" "12" "21628422" "21628422" "subst" "1.22364E-5" "01943" "RECQL_000002" "g.21628422T>C" "" "" "" "RECQL(NM_002907.4):c.1196A>G (p.Y399C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21475488T>C" "" "VUS" "" "0000306907" "0" "30" "12" "21624546" "21624546" "subst" "0.0038711" "01943" "RECQL_000001" "g.21624546C>G" "" "" "" "RECQL(NM_002907.4):c.1483G>C (p.D495H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21471612C>G" "" "likely benign" "" "0000322701" "0" "50" "12" "21620548" "21620548" "del" "0" "01804" "PYROXD1_000004" "g.21620548del" "" "" "" "PYROXD1(NM_024854.3):c.1250del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21467614del" "" "VUS" "" "0000322702" "0" "50" "12" "21620551" "21620551" "subst" "0" "01804" "PYROXD1_000005" "g.21620551A>T" "" "" "" "PYROXD1(NM_024854.3):c.1253A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21467617A>T" "" "VUS" "" "0000408201" "11" "90" "12" "21598401" "21598401" "subst" "9.27816E-5" "00006" "PYROXD1_000007" "g.21598401G>A" "" "{PMID:O\'Grady 2016:27745833}" "" "" "" "Germline" "yes" "rs369083786" "0" "" "" "g.21445467G>A" "{CV:372278}" "pathogenic (recessive)" "" "0000408202" "21" "90" "12" "21615796" "21615796" "subst" "1.63486E-5" "00006" "PYROXD1_000008" "g.21615796G>C" "" "{PMID:O\'Grady 2016:27745833}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21462862G>C" "" "pathogenic (recessive)" "" "0000408203" "3" "90" "12" "21605064" "21605064" "subst" "4.81249E-5" "00006" "PYROXD1_000009" "g.21605064A>G" "" "{PMID:O\'Grady 2016:27745833}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21452130A>G" "" "pathogenic (recessive)" "" "0000408204" "21" "90" "12" "21605064" "21605064" "subst" "4.81249E-5" "00006" "PYROXD1_000009" "g.21605064A>G" "" "{PMID:O\'Grady 2016:27745833}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21452130A>G" "" "pathogenic (recessive)" "" "0000408205" "11" "90" "12" "21602626" "21602626" "subst" "0" "00006" "PYROXD1_000010" "g.21602626G>A" "" "{PMID:O\'Grady 2016:27745833}" "" "" "reduced RNA expression" "Germline" "yes" "" "0" "" "" "g.21449692G>A" "" "pathogenic (recessive)" "" "0000408206" "3" "90" "12" "21605064" "21605064" "subst" "4.81249E-5" "00006" "PYROXD1_000009" "g.21605064A>G" "" "{PMID:O\'Grady 2016:27745833}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21452130A>G" "" "pathogenic (recessive)" "" "0000408207" "21" "90" "12" "21605064" "21605064" "subst" "4.81249E-5" "00006" "PYROXD1_000009" "g.21605064A>G" "" "{PMID:O\'Grady 2016:27745833}" "" "" "" "Germline" "" "" "0" "" "" "g.21452130A>G" "" "pathogenic (recessive)" "" "0000408208" "11" "90" "12" "21620458" "21620461" "dup" "0" "00006" "PYROXD1_000011" "g.21620458_21620461dup" "" "{PMID:O\'Grady 2016:27745833}" "" "" "" "Germline" "" "" "0" "" "" "g.21467524_21467527dup" "" "pathogenic (recessive)" "" "0000459018" "3" "90" "12" "21605064" "21605064" "subst" "4.81249E-5" "00006" "PYROXD1_000009" "g.21605064A>G" "" "{PMID:Saha 2018:30345904}, {DOI:Saha 2018:10.1152/physiolgenomics.00036.2018}" "" "" "" "Germline" "yes" "rs781565158" "0" "" "" "g.21452130A>G" "" "pathogenic (recessive)" "" "0000459026" "21" "90" "12" "21605064" "21605064" "subst" "4.81249E-5" "00006" "PYROXD1_000009" "g.21605064A>G" "" "{PMID:Sainio 2019:30515627}" "" "" "" "Germline" "" "" "0" "" "" "g.21452130A>G" "" "pathogenic (recessive)" "" "0000459027" "11" "90" "12" "21615741" "21615741" "subst" "1.2195E-5" "00006" "PYROXD1_000012" "g.21615741A>G" "" "{PMID:Sainio 2019:30515627}" "" "" "" "Germline" "" "" "0" "" "" "g.21462807A>G" "" "pathogenic (recessive)" "" "0000459028" "3" "90" "12" "21605064" "21605064" "subst" "4.81249E-5" "00006" "PYROXD1_000009" "g.21605064A>G" "" "{PMID:Sainio 2019:30515627}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21452130A>G" "" "pathogenic (recessive)" "" "0000459029" "3" "90" "12" "21605064" "21605064" "subst" "4.81249E-5" "00006" "PYROXD1_000009" "g.21605064A>G" "" "{PMID:Sainio 2019:30515627}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21452130A>G" "" "pathogenic (recessive)" "" "0000465561" "11" "90" "12" "21598401" "21598401" "subst" "9.27816E-5" "00006" "PYROXD1_000007" "g.21598401G>A" "" "{PMID:O\'Grady 2016:27745833}" "" "" "" "Germline" "yes" "rs369083786" "0" "" "" "g.21445467G>A" "{CV:372278}" "pathogenic (recessive)" "" "0000465563" "21" "90" "12" "21615796" "21615796" "subst" "1.63486E-5" "00006" "PYROXD1_000008" "g.21615796G>C" "" "{PMID:O\'Grady 2016:27745833}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21462862G>C" "" "pathogenic (recessive)" "" "0000465593" "3" "90" "12" "21605064" "21605064" "subst" "4.81249E-5" "00006" "PYROXD1_000009" "g.21605064A>G" "" "{PMID:O\'Grady 2016:27745833}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21452130A>G" "" "pathogenic (recessive)" "" "0000465594" "11" "90" "12" "21602626" "21602626" "subst" "0" "00006" "PYROXD1_000010" "g.21602626G>A" "" "{PMID:O\'Grady 2016:27745833}" "" "" "reduced RNA expression" "Germline" "yes" "" "0" "" "" "g.21449692G>A" "" "pathogenic (recessive)" "" "0000465595" "21" "90" "12" "21605064" "21605064" "subst" "4.81249E-5" "00006" "PYROXD1_000009" "g.21605064A>G" "" "{PMID:O\'Grady 2016:27745833}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21452130A>G" "" "pathogenic (recessive)" "" "0000465596" "3" "90" "12" "21605064" "21605064" "subst" "4.81249E-5" "00006" "PYROXD1_000009" "g.21605064A>G" "" "{PMID:O\'Grady 2016:27745833}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21452130A>G" "" "pathogenic (recessive)" "" "0000470152" "3" "70" "12" "21598401" "21598401" "subst" "9.27816E-5" "00006" "PYROXD1_000007" "g.21598401G>A" "" "" "" "" "" "Germline" "" "rs369083786" "0" "" "" "g.21445467G>A" "" "likely pathogenic" "" "0000547455" "0" "30" "12" "21623284" "21623284" "del" "0" "01804" "PYROXD1_000013" "g.21623284del" "" "" "" "RECQL(NM_002907.3):c.1798-4delG (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21470350del" "" "likely benign" "" "0000547456" "0" "30" "12" "21623293" "21623300" "dup" "0" "01804" "PYROXD1_000014" "g.21623293_21623300dup" "" "" "" "RECQL(NM_002907.3):c.1798-5_1798-4insTTTTTTTT (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21470359_21470366dup" "" "likely benign" "" "0000547457" "0" "30" "12" "21623294" "21623300" "dup" "0" "01804" "PYROXD1_000015" "g.21623294_21623300dup" "" "" "" "RECQL(NM_002907.3):c.1798-5_1798-4insTTTTTTT (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21470360_21470366dup" "" "likely benign" "" "0000547459" "0" "30" "12" "21623296" "21623300" "dup" "0" "01804" "PYROXD1_000017" "g.21623296_21623300dup" "" "" "" "RECQL(NM_002907.3):c.1798-5_1798-4insTTTTT (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21470362_21470366dup" "" "likely benign" "" "0000547460" "0" "30" "12" "21623297" "21623300" "dup" "0" "01804" "PYROXD1_000018" "g.21623297_21623300dup" "" "" "" "RECQL(NM_002907.3):c.1798-8_1798-5dup (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21470363_21470366dup" "" "likely benign" "" "0000547461" "0" "30" "12" "21623298" "21623300" "dup" "0" "01804" "PYROXD1_000019" "g.21623298_21623300dup" "" "" "" "RECQL(NM_002907.3):c.1798-5_1798-4insTTT (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21470364_21470366dup" "" "likely benign" "" "0000547462" "0" "30" "12" "21623299" "21623300" "dup" "0" "01804" "PYROXD1_000020" "g.21623299_21623300dup" "" "" "" "RECQL(NM_002907.3):c.1798-6_1798-5insTT (p.?), RECQL(NM_002907.4):c.1798-6_1798-5dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21470365_21470366dup" "" "likely benign" "" "0000547463" "0" "30" "12" "21623300" "21623300" "del" "0" "01804" "PYROXD1_000021" "g.21623300del" "" "" "" "RECQL(NM_002907.3):c.1798-5delT (p.?), RECQL(NM_002907.4):c.1798-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21470366del" "" "likely benign" "" "0000547469" "0" "50" "12" "21628447" "21628447" "subst" "2.8493E-5" "01943" "PYROXD1_000025" "g.21628447T>C" "" "" "" "RECQL(NM_002907.4):c.1171A>G (p.M391V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21475513T>C" "" "VUS" "" "0000613998" "0" "10" "12" "21623300" "21623300" "del" "0" "01943" "PYROXD1_000021" "g.21623300del" "" "" "" "RECQL(NM_002907.3):c.1798-5delT (p.?), RECQL(NM_002907.4):c.1798-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21470366del" "" "benign" "" "0000645300" "3" "90" "12" "21605064" "21605064" "subst" "4.81249E-5" "00006" "PYROXD1_000009" "g.21605064A>G" "" "{PMID:Lee 2019:31607746}" "" "" "" "Germline" "" "" "0" "" "" "g.21452130A>G" "{CV:000746660.1}" "pathogenic (recessive)" "" "0000653371" "3" "70" "12" "21605064" "21605064" "subst" "4.81249E-5" "01164" "PYROXD1_000009" "g.21605064A>G" "" "" "" "" "ACMG grading PS3, PM2, PM3, PP1, PP3; co-occurence with VUS in RYR1 (c.1931G>T (p.Arg644Leu) heterozygous); 1) O`Grady et al.; 2016. Am J Hum Genet 99: 1086 2) Saha et al.; 2018. Physiol Genomics 50: 929 3) Sainio et al.; 2019. J Neurol 266: 353" "Germline" "" "rs781565158" "0" "" "" "g.21452130A>G" "" "pathogenic" "ACMG" "0000657067" "0" "30" "12" "21623280" "21623280" "subst" "0" "01804" "PYROXD1_000030" "g.21623280C>G" "" "" "" "RECQL(NM_002907.3):c.1798G>C (p.(Ala600Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21470346C>G" "" "likely benign" "" "0000679459" "0" "50" "12" "21623219" "21623219" "subst" "0.000727092" "01943" "PYROXD1_000031" "g.21623219G>C" "" "" "" "RECQL(NM_002907.3):c.1859C>G (p.(Ser620*)), RECQL(NM_002907.4):c.1859C>G (p.S620*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000697670" "0" "70" "12" "21598401" "21598401" "subst" "9.27816E-5" "00006" "PYROXD1_000007" "g.21598401G>A" "4/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.21445467G>A" "" "likely pathogenic" "" "0000736959" "1" "50" "12" "21623931" "21623932" "dup" "0" "04020" "PYROXD1_000058" "g.21623931_21623932dup" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623929_T_TCA" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000742327" "1" "50" "12" "21623133" "21623133" "subst" "4.08173E-6" "04020" "PYROXD1_000032" "g.21623133C>T" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623133_C_T" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000742328" "1" "50" "12" "21623135" "21623135" "subst" "0" "04020" "PYROXD1_000033" "g.21623135T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623135_T_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000742329" "1" "50" "12" "21623172" "21623172" "subst" "1.2346E-5" "04020" "PYROXD1_000038" "g.21623172A>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623172_A_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000742330" "1" "50" "12" "21623180" "21623180" "subst" "0" "04020" "PYROXD1_000039" "g.21623180T>C" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623180_T_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000742331" "1" "50" "12" "21623205" "21623205" "subst" "0" "04020" "PYROXD1_000044" "g.21623205T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623205_T_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000742332" "1" "50" "12" "21623234" "21623234" "subst" "0" "04020" "PYROXD1_000047" "g.21623234A>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623234_A_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000742333" "1" "50" "12" "21623908" "21623908" "subst" "0" "04020" "PYROXD1_000053" "g.21623908A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623908_A_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000742334" "1" "50" "12" "21623920" "21623920" "subst" "6.50599E-5" "04020" "PYROXD1_000055" "g.21623920T>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623920_T_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000742335" "1" "50" "12" "21623920" "21623920" "subst" "0" "04020" "PYROXD1_000056" "g.21623920T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623920_T_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000742336" "1" "50" "12" "21623922" "21623922" "subst" "0" "04020" "PYROXD1_000057" "g.21623922G>A" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623922_G_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000742337" "1" "50" "12" "21623946" "21623946" "subst" "0" "04020" "PYROXD1_000060" "g.21623946G>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623946_G_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000742338" "1" "50" "12" "21624006" "21624006" "subst" "0" "04020" "PYROXD1_000075" "g.21624006G>A" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21624006_G_A" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000742339" "1" "50" "12" "21624026" "21624026" "subst" "0" "04020" "PYROXD1_000079" "g.21624026G>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21624026_G_C" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000742340" "1" "50" "12" "21624029" "21624029" "subst" "0" "04020" "PYROXD1_000080" "g.21624029T>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21624029_T_G" "not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000742806" "1" "50" "12" "21623967" "21623967" "del" "0" "04020" "PYROXD1_000066" "g.21623967del" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623965_GA_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749539" "1" "50" "12" "21623140" "21623140" "subst" "0" "04020" "PYROXD1_000035" "g.21623140G>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623140_G_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749540" "1" "50" "12" "21623156" "21623156" "subst" "0" "04020" "PYROXD1_000036" "g.21623156G>C" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623156_G_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749541" "1" "50" "12" "21623171" "21623171" "subst" "0" "04020" "PYROXD1_000037" "g.21623171G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623171_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749542" "1" "50" "12" "21623195" "21623195" "subst" "0" "04020" "PYROXD1_000041" "g.21623195G>A" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623195_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749543" "1" "50" "12" "21623202" "21623202" "subst" "8.49856E-6" "04020" "PYROXD1_000043" "g.21623202T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623202_T_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749544" "1" "50" "12" "21623207" "21623207" "subst" "0" "04020" "PYROXD1_000045" "g.21623207T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623207_T_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749545" "1" "50" "12" "21623243" "21623243" "subst" "0" "04020" "PYROXD1_000049" "g.21623243T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623243_T_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749546" "1" "50" "12" "21623264" "21623264" "subst" "0" "04020" "PYROXD1_000050" "g.21623264G>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623264_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749547" "1" "50" "12" "21623949" "21623949" "subst" "0" "04020" "PYROXD1_000061" "g.21623949T>A" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623949_T_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749548" "1" "50" "12" "21623957" "21623957" "subst" "0" "04020" "PYROXD1_000062" "g.21623957A>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623957_A_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749549" "1" "50" "12" "21623967" "21623967" "subst" "0" "04020" "PYROXD1_000067" "g.21623967A>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623967_A_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749550" "1" "50" "12" "21623979" "21623979" "subst" "0" "04020" "PYROXD1_000069" "g.21623979G>A" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623979_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749551" "1" "50" "12" "21623982" "21623982" "subst" "0" "04020" "PYROXD1_000070" "g.21623982C>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623982_C_T" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749552" "1" "50" "12" "21623985" "21623985" "subst" "0" "04020" "PYROXD1_000071" "g.21623985A>G" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623985_A_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749553" "1" "50" "12" "21623989" "21623989" "subst" "0" "04020" "PYROXD1_000072" "g.21623989T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623989_T_C" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749554" "1" "50" "12" "21623997" "21623997" "subst" "1.27389E-5" "04020" "PYROXD1_000073" "g.21623997G>A" "4/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623997_G_A" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000749555" "1" "50" "12" "21624013" "21624013" "subst" "0" "04020" "PYROXD1_000076" "g.21624013C>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21624013_C_G" "not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000750066" "1" "50" "12" "21624023" "21624024" "del" "0" "04020" "PYROXD1_000078" "g.21624023_21624024del" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21624021_CTG_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000750240" "1" "50" "12" "21623968" "21623969" "delins" "0" "04020" "PYROXD1_000068" "g.21623968_21623969delinsAG" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623968_GA_AG" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754458" "1" "50" "12" "21623139" "21623139" "subst" "8.1638E-6" "04020" "PYROXD1_000034" "g.21623139C>T" "4/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623139_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754459" "1" "50" "12" "21623183" "21623183" "subst" "0" "04020" "PYROXD1_000040" "g.21623183T>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623183_T_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754460" "1" "50" "12" "21623201" "21623201" "subst" "3.38541E-5" "04020" "PYROXD1_000042" "g.21623201T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623201_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754461" "1" "50" "12" "21623229" "21623229" "subst" "0" "04020" "PYROXD1_000046" "g.21623229C>T" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623229_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754462" "1" "50" "12" "21623240" "21623240" "subst" "9.17995E-6" "04020" "PYROXD1_000048" "g.21623240T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623240_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754463" "1" "50" "12" "21623905" "21623905" "subst" "5.48348E-5" "04020" "PYROXD1_000051" "g.21623905T>C" "7/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623905_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754464" "1" "50" "12" "21623907" "21623907" "subst" "5.35923E-6" "04020" "PYROXD1_000052" "g.21623907A>G" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623907_A_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754465" "1" "50" "12" "21623919" "21623919" "subst" "0" "04020" "PYROXD1_000054" "g.21623919G>A" "2/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623919_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754466" "1" "50" "12" "21623937" "21623937" "subst" "4.26613E-5" "04020" "PYROXD1_000059" "g.21623937A>T" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623937_A_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754467" "1" "50" "12" "21623958" "21623958" "subst" "1.70698E-5" "04020" "PYROXD1_000063" "g.21623958T>C" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623958_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754468" "1" "50" "12" "21623959" "21623959" "subst" "0" "04020" "PYROXD1_000064" "g.21623959T>C" "1/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623959_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754469" "1" "50" "12" "21623960" "21623960" "subst" "0" "04020" "PYROXD1_000065" "g.21623960G>T" "4/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623960_G_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754470" "1" "50" "12" "21624004" "21624004" "subst" "3.41848E-5" "04020" "PYROXD1_000074" "g.21624004T>C" "7/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21624004_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754471" "1" "50" "12" "21624021" "21624021" "subst" "1.86195E-5" "04020" "PYROXD1_000077" "g.21624021C>T" "3/60466 cases" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21624021_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000754840" "1" "50" "12" "21624023" "21624024" "del" "0" "04020" "PYROXD1_000078" "g.21624023_21624024del" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21624021_CTG_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000755014" "1" "50" "12" "21623968" "21623969" "delins" "0" "04020" "PYROXD1_000068" "g.21623968_21623969delinsAG" "5/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623968_GA_AG" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000759232" "1" "50" "12" "21623139" "21623139" "subst" "8.1638E-6" "04020" "PYROXD1_000034" "g.21623139C>T" "3/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623139_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000759233" "1" "50" "12" "21623183" "21623183" "subst" "0" "04020" "PYROXD1_000040" "g.21623183T>G" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623183_T_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000759234" "1" "50" "12" "21623201" "21623201" "subst" "3.38541E-5" "04020" "PYROXD1_000042" "g.21623201T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623201_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000759235" "1" "50" "12" "21623229" "21623229" "subst" "0" "04020" "PYROXD1_000046" "g.21623229C>T" "3/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623229_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000759236" "1" "50" "12" "21623240" "21623240" "subst" "9.17995E-6" "04020" "PYROXD1_000048" "g.21623240T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623240_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000759237" "1" "50" "12" "21623905" "21623905" "subst" "5.48348E-5" "04020" "PYROXD1_000051" "g.21623905T>C" "7/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623905_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000759238" "1" "50" "12" "21623907" "21623907" "subst" "5.35923E-6" "04020" "PYROXD1_000052" "g.21623907A>G" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623907_A_G" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000759239" "1" "50" "12" "21623919" "21623919" "subst" "0" "04020" "PYROXD1_000054" "g.21623919G>A" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623919_G_A" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000759240" "1" "50" "12" "21623937" "21623937" "subst" "4.26613E-5" "04020" "PYROXD1_000059" "g.21623937A>T" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623937_A_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000759241" "1" "50" "12" "21623958" "21623958" "subst" "1.70698E-5" "04020" "PYROXD1_000063" "g.21623958T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623958_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000759242" "1" "50" "12" "21623959" "21623959" "subst" "0" "04020" "PYROXD1_000064" "g.21623959T>C" "1/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623959_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000759243" "1" "50" "12" "21623960" "21623960" "subst" "0" "04020" "PYROXD1_000065" "g.21623960G>T" "2/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21623960_G_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000759244" "1" "50" "12" "21624004" "21624004" "subst" "3.41848E-5" "04020" "PYROXD1_000074" "g.21624004T>C" "7/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21624004_T_C" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000759245" "1" "50" "12" "21624021" "21624021" "subst" "1.86195E-5" "04020" "PYROXD1_000077" "g.21624021C>T" "3/53461 controls" "{PMID:Dorling 2021:33471991}, {DOI:Dorling 2021:10.1056/NEJMoa1913948}" "" "chr12_21624021_C_T" "the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types" "Germline" "" "" "0" "" "" "" "" "NA" "" "0000832977" "1" "70" "12" "21598401" "21598401" "subst" "9.27816E-5" "00006" "PYROXD1_000007" "g.21598401G>A" "" "{PMID:Natera-de Benito 2021:33333461}" "" "" "ACMG PVS1, PM2, PM3, PP5" "Germline" "" "" "0" "" "" "g.21445467G>A" "" "likely pathogenic (recessive)" "ACMG" "0000833005" "2" "50" "12" "21613996" "21613996" "subst" "0" "00006" "PYROXD1_000081" "g.21613996T>G" "" "{PMID:Natera-de Benito 2021:33333461}" "" "" "ACMG PM2, PM3" "Germline" "" "" "0" "" "" "g.21461062T>G" "" "VUS" "ACMG" "0000862939" "0" "50" "12" "21623219" "21623219" "subst" "0.000727092" "01804" "PYROXD1_000031" "g.21623219G>C" "" "" "" "RECQL(NM_002907.3):c.1859C>G (p.(Ser620*)), RECQL(NM_002907.4):c.1859C>G (p.S620*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862940" "0" "70" "12" "21652503" "21652503" "subst" "0.000363667" "01943" "RECQL_000301" "g.21652503A>G" "" "" "" "RECQL(NM_002907.4):c.2T>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000890476" "0" "70" "12" "21605064" "21605064" "subst" "4.81249E-5" "02327" "PYROXD1_000009" "g.21605064A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000890477" "0" "30" "12" "21614936" "21614936" "subst" "0.00388846" "02326" "PYROXD1_000082" "g.21614936T>G" "" "" "" "PYROXD1(NM_024854.5):c.881-6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890478" "0" "10" "12" "21623284" "21623284" "subst" "0" "02326" "PYROXD1_000083" "g.21623284C>A" "" "" "" "RECQL(NM_002907.4):c.1798-5_1798-4delTGinsTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890479" "0" "10" "12" "21623299" "21623300" "dup" "0" "02326" "PYROXD1_000020" "g.21623299_21623300dup" "" "" "" "RECQL(NM_002907.3):c.1798-6_1798-5insTT (p.?), RECQL(NM_002907.4):c.1798-6_1798-5dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000972061" "3" "70" "12" "21602605" "21602605" "subst" "0" "04620" "PYROXD1_000084" "g.21602605C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.21449671C>T" "" "likely pathogenic (recessive)" "ACMG" "0000980182" "0" "30" "12" "21608132" "21608132" "subst" "0.0014023" "01804" "PYROXD1_000085" "g.21608132C>T" "" "" "" "PYROXD1(NM_024854.5):c.555C>T (p.(Phe185=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980183" "0" "50" "12" "21614983" "21614983" "subst" "0" "01804" "PYROXD1_000086" "g.21614983T>A" "" "" "" "PYROXD1(NM_024854.5):c.922T>A (p.(Tyr308Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039126" "0" "50" "12" "21621469" "21621469" "subst" "2.0361E-5" "01804" "PYROXD1_000087" "g.21621469G>C" "" "" "" "PYROXD1(NM_024854.5):c.1284G>C (p.(Gln428His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054246" "0" "30" "12" "21598400" "21598400" "subst" "1.39001E-5" "01804" "PYROXD1_000088" "g.21598400C>T" "" "" "" "PYROXD1(NM_024854.5):c.285C>T (p.(His95=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054247" "0" "50" "12" "21602592" "21602592" "subst" "8.22139E-6" "01804" "PYROXD1_000089" "g.21602592T>G" "" "" "" "PYROXD1(NM_024854.5):c.381T>G (p.(Tyr127*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054248" "0" "50" "12" "21615705" "21615705" "subst" "1.21912E-5" "01804" "PYROXD1_000090" "g.21615705T>C" "" "" "" "PYROXD1(NM_024854.5):c.1025T>C (p.(Val342Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PYROXD1 ## Count = 119 "{{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}}" "0000306906" "00017236" "50" "8237" "0" "8237" "0" "c.*6734T>C" "r.(=)" "p.(=)" "" "0000306907" "00017236" "30" "4361" "0" "4361" "0" "c.*2858C>G" "r.(=)" "p.(=)" "" "0000322701" "00017236" "50" "1250" "0" "1250" "0" "c.1250del" "r.(?)" "p.(Tyr417LeufsTer14)" "" "0000322702" "00017236" "50" "1253" "0" "1253" "0" "c.1253A>T" "r.(?)" "p.(Lys418Met)" "" "0000408201" "00017236" "90" "285" "1" "285" "1" "c.285+1G>A" "r.166_285del" "p.Ile56_His95del" "3i" "0000408202" "00017236" "90" "1116" "0" "1116" "0" "c.1116G>C" "r.(?)" "p.(Gln372His)" "" "0000408203" "00017236" "90" "464" "0" "464" "0" "c.464A>G" "r.(?)" "p.(Asn155Ser)" "" "0000408204" "00017236" "90" "464" "0" "464" "0" "c.464A>G" "r.464a>g" "p.Asn155Ser" "" "0000408205" "00017236" "90" "414" "1" "414" "1" "c.414+1G>A" "r.286_414del" "p.Cys96_Gln138del" "4i" "0000408206" "00017236" "90" "464" "0" "464" "0" "c.464A>G" "r.(?)" "p.(Asn155Ser)" "" "0000408207" "00017236" "90" "464" "0" "464" "0" "c.464A>G" "r.(?)" "p.(Asn155Ser)" "" "0000408208" "00017236" "90" "1160" "0" "1163" "0" "c.1160_1163dup" "r.(?)" "p.(Lys388Asnfs*14)" "" "0000459018" "00017236" "90" "464" "0" "464" "0" "c.464A>G" "r.(?)" "p.(Asn155Ser)" "" "0000459026" "00017236" "90" "464" "0" "464" "0" "c.464A>G" "r.(?)" "p.(Asn155Ser)" "" "0000459027" "00017236" "90" "1061" "0" "1061" "0" "c.1061A>G" "r.(?)" "p.(Tyr354Cys)" "" "0000459028" "00017236" "90" "464" "0" "464" "0" "c.464A>G" "r.(?)" "p.(Asn155Ser)" "" "0000459029" "00017236" "90" "464" "0" "464" "0" "c.464A>G" "r.(?)" "p.(Asn155Ser)" "" "0000465561" "00017236" "90" "285" "1" "285" "1" "c.285+1G>A" "r.166_285del" "p.Ile56_His95del" "3i" "0000465563" "00017236" "90" "1116" "0" "1116" "0" "c.1116G>C" "r.(?)" "p.(Gln372His)" "" "0000465593" "00017236" "90" "464" "0" "464" "0" "c.464A>G" "r.(?)" "p.(Asn155Ser)" "" "0000465594" "00017236" "90" "414" "1" "414" "1" "c.414+1G>A" "r.286_414del" "p.Cys96_Gln138del" "4i" "0000465595" "00017236" "90" "464" "0" "464" "0" "c.464A>G" "r.464a>g" "p.Asn155Ser" "" "0000465596" "00017236" "90" "464" "0" "464" "0" "c.464A>G" "r.(?)" "p.(Asn155Ser)" "" "0000470152" "00017236" "70" "285" "1" "285" "1" "c.285+1G>A" "r.spl" "p.?" "" "0000547455" "00017236" "30" "3099" "0" "3099" "0" "c.*1596del" "r.(?)" "p.(=)" "" "0000547456" "00017236" "30" "3108" "0" "3115" "0" "c.*1605_*1612dup" "r.(=)" "p.(=)" "" "0000547457" "00017236" "30" "3109" "0" "3115" "0" "c.*1606_*1612dup" "r.(=)" "p.(=)" "" "0000547459" "00017236" "30" "3111" "0" "3115" "0" "c.*1608_*1612dup" "r.(=)" "p.(=)" "" "0000547460" "00017236" "30" "3112" "0" "3115" "0" "c.*1609_*1612dup" "r.(=)" "p.(=)" "" "0000547461" "00017236" "30" "3113" "0" "3115" "0" "c.*1610_*1612dup" "r.(=)" "p.(=)" "" "0000547462" "00017236" "30" "3114" "0" "3115" "0" "c.*1611_*1612dup" "r.(=)" "p.(=)" "" "0000547463" "00017236" "30" "3115" "0" "3115" "0" "c.*1612del" "r.(?)" "p.(=)" "" "0000547469" "00017236" "50" "8262" "0" "8262" "0" "c.*6759T>C" "r.(=)" "p.(=)" "" "0000613998" "00017236" "10" "3115" "0" "3115" "0" "c.*1612del" "r.(?)" "p.(=)" "" "0000645300" "00017236" "90" "464" "0" "464" "0" "c.464A>G" "r.464a>g" "p.(Asn155Ser)" "" "0000653371" "00017236" "70" "464" "0" "464" "0" "c.464A>G" "r.(?)" "p.(Asn155Ser)" "" "0000657067" "00017236" "30" "3095" "0" "3095" "0" "c.*1592C>G" "r.(=)" "p.(=)" "" "0000679459" "00017236" "50" "3034" "0" "3034" "0" "c.*1531G>C" "r.(=)" "p.(=)" "" "0000697670" "00017236" "70" "285" "1" "285" "1" "c.285+1G>A" "r.spl" "p.?" "" "0000736959" "00017236" "50" "3746" "0" "3747" "0" "c.*2243_*2244dup" "r.(=)" "p.(=)" "" "0000742327" "00017236" "50" "2948" "0" "2948" "0" "c.*1445C>T" "r.(=)" "p.(=)" "" "0000742328" "00017236" "50" "2950" "0" "2950" "0" "c.*1447T>C" "r.(=)" "p.(=)" "" "0000742329" "00017236" "50" "2987" "0" "2987" "0" "c.*1484A>C" "r.(=)" "p.(=)" "" "0000742330" "00017236" "50" "2995" "0" "2995" "0" "c.*1492T>C" "r.(=)" "p.(=)" "" "0000742331" "00017236" "50" "3020" "0" "3020" "0" "c.*1517T>C" "r.(=)" "p.(=)" "" "0000742332" "00017236" "50" "3049" "0" "3049" "0" "c.*1546A>C" "r.(=)" "p.(=)" "" "0000742333" "00017236" "50" "3723" "0" "3723" "0" "c.*2220A>G" "r.(=)" "p.(=)" "" "0000742334" "00017236" "50" "3735" "0" "3735" "0" "c.*2232T>A" "r.(=)" "p.(=)" "" "0000742335" "00017236" "50" "3735" "0" "3735" "0" "c.*2232T>C" "r.(=)" "p.(=)" "" "0000742336" "00017236" "50" "3737" "0" "3737" "0" "c.*2234G>A" "r.(=)" "p.(=)" "" "0000742337" "00017236" "50" "3761" "0" "3761" "0" "c.*2258G>C" "r.(=)" "p.(=)" "" "0000742338" "00017236" "50" "3821" "0" "3821" "0" "c.*2318G>A" "r.(=)" "p.(=)" "" "0000742339" "00017236" "50" "3841" "0" "3841" "0" "c.*2338G>C" "r.(=)" "p.(=)" "" "0000742340" "00017236" "50" "3844" "0" "3844" "0" "c.*2341T>G" "r.(=)" "p.(=)" "" "0000742806" "00017236" "50" "3782" "0" "3782" "0" "c.*2279del" "r.(=)" "p.(=)" "" "0000749539" "00017236" "50" "2955" "0" "2955" "0" "c.*1452G>C" "r.(=)" "p.(=)" "" "0000749540" "00017236" "50" "2971" "0" "2971" "0" "c.*1468G>C" "r.(=)" "p.(=)" "" "0000749541" "00017236" "50" "2986" "0" "2986" "0" "c.*1483G>A" "r.(=)" "p.(=)" "" "0000749542" "00017236" "50" "3010" "0" "3010" "0" "c.*1507G>A" "r.(=)" "p.(=)" "" "0000749543" "00017236" "50" "3017" "0" "3017" "0" "c.*1514T>C" "r.(=)" "p.(=)" "" "0000749544" "00017236" "50" "3022" "0" "3022" "0" "c.*1519T>C" "r.(=)" "p.(=)" "" "0000749545" "00017236" "50" "3058" "0" "3058" "0" "c.*1555T>C" "r.(=)" "p.(=)" "" "0000749546" "00017236" "50" "3079" "0" "3079" "0" "c.*1576G>A" "r.(=)" "p.(=)" "" "0000749547" "00017236" "50" "3764" "0" "3764" "0" "c.*2261T>A" "r.(=)" "p.(=)" "" "0000749548" "00017236" "50" "3772" "0" "3772" "0" "c.*2269A>T" "r.(=)" "p.(=)" "" "0000749549" "00017236" "50" "3782" "0" "3782" "0" "c.*2279A>G" "r.(=)" "p.(=)" "" "0000749550" "00017236" "50" "3794" "0" "3794" "0" "c.*2291G>A" "r.(=)" "p.(=)" "" "0000749551" "00017236" "50" "3797" "0" "3797" "0" "c.*2294C>T" "r.(=)" "p.(=)" "" "0000749552" "00017236" "50" "3800" "0" "3800" "0" "c.*2297A>G" "r.(=)" "p.(=)" "" "0000749553" "00017236" "50" "3804" "0" "3804" "0" "c.*2301T>C" "r.(=)" "p.(=)" "" "0000749554" "00017236" "50" "3812" "0" "3812" "0" "c.*2309G>A" "r.(=)" "p.(=)" "" "0000749555" "00017236" "50" "3828" "0" "3828" "0" "c.*2325C>G" "r.(=)" "p.(=)" "" "0000750066" "00017236" "50" "3838" "0" "3839" "0" "c.*2335_*2336del" "r.(=)" "p.(=)" "" "0000750240" "00017236" "50" "3783" "0" "3784" "0" "c.*2280_*2281delinsAG" "r.(=)" "p.(=)" "" "0000754458" "00017236" "50" "2954" "0" "2954" "0" "c.*1451C>T" "r.(=)" "p.(=)" "" "0000754459" "00017236" "50" "2998" "0" "2998" "0" "c.*1495T>G" "r.(=)" "p.(=)" "" "0000754460" "00017236" "50" "3016" "0" "3016" "0" "c.*1513T>C" "r.(=)" "p.(=)" "" "0000754461" "00017236" "50" "3044" "0" "3044" "0" "c.*1541C>T" "r.(=)" "p.(=)" "" "0000754462" "00017236" "50" "3055" "0" "3055" "0" "c.*1552T>C" "r.(=)" "p.(=)" "" "0000754463" "00017236" "50" "3720" "0" "3720" "0" "c.*2217T>C" "r.(=)" "p.(=)" "" "0000754464" "00017236" "50" "3722" "0" "3722" "0" "c.*2219A>G" "r.(=)" "p.(=)" "" "0000754465" "00017236" "50" "3734" "0" "3734" "0" "c.*2231G>A" "r.(=)" "p.(=)" "" "0000754466" "00017236" "50" "3752" "0" "3752" "0" "c.*2249A>T" "r.(=)" "p.(=)" "" "0000754467" "00017236" "50" "3773" "0" "3773" "0" "c.*2270T>C" "r.(=)" "p.(=)" "" "0000754468" "00017236" "50" "3774" "0" "3774" "0" "c.*2271T>C" "r.(=)" "p.(=)" "" "0000754469" "00017236" "50" "3775" "0" "3775" "0" "c.*2272G>T" "r.(=)" "p.(=)" "" "0000754470" "00017236" "50" "3819" "0" "3819" "0" "c.*2316T>C" "r.(=)" "p.(=)" "" "0000754471" "00017236" "50" "3836" "0" "3836" "0" "c.*2333C>T" "r.(=)" "p.(=)" "" "0000754840" "00017236" "50" "3838" "0" "3839" "0" "c.*2335_*2336del" "r.(=)" "p.(=)" "" "0000755014" "00017236" "50" "3783" "0" "3784" "0" "c.*2280_*2281delinsAG" "r.(=)" "p.(=)" "" "0000759232" "00017236" "50" "2954" "0" "2954" "0" "c.*1451C>T" "r.(=)" "p.(=)" "" "0000759233" "00017236" "50" "2998" "0" "2998" "0" "c.*1495T>G" "r.(=)" "p.(=)" "" "0000759234" "00017236" "50" "3016" "0" "3016" "0" "c.*1513T>C" "r.(=)" "p.(=)" "" "0000759235" "00017236" "50" "3044" "0" "3044" "0" "c.*1541C>T" "r.(=)" "p.(=)" "" "0000759236" "00017236" "50" "3055" "0" "3055" "0" "c.*1552T>C" "r.(=)" "p.(=)" "" "0000759237" "00017236" "50" "3720" "0" "3720" "0" "c.*2217T>C" "r.(=)" "p.(=)" "" "0000759238" "00017236" "50" "3722" "0" "3722" "0" "c.*2219A>G" "r.(=)" "p.(=)" "" "0000759239" "00017236" "50" "3734" "0" "3734" "0" "c.*2231G>A" "r.(=)" "p.(=)" "" "0000759240" "00017236" "50" "3752" "0" "3752" "0" "c.*2249A>T" "r.(=)" "p.(=)" "" "0000759241" "00017236" "50" "3773" "0" "3773" "0" "c.*2270T>C" "r.(=)" "p.(=)" "" "0000759242" "00017236" "50" "3774" "0" "3774" "0" "c.*2271T>C" "r.(=)" "p.(=)" "" "0000759243" "00017236" "50" "3775" "0" "3775" "0" "c.*2272G>T" "r.(=)" "p.(=)" "" "0000759244" "00017236" "50" "3819" "0" "3819" "0" "c.*2316T>C" "r.(=)" "p.(=)" "" "0000759245" "00017236" "50" "3836" "0" "3836" "0" "c.*2333C>T" "r.(=)" "p.(=)" "" "0000832977" "00017236" "90" "285" "1" "285" "1" "c.285+1G>A" "r.spl" "p.?" "" "0000833005" "00017236" "90" "788" "0" "788" "0" "c.788T>G" "r.(?)" "p.(Val263Gly)" "" "0000862939" "00017236" "50" "3034" "0" "3034" "0" "c.*1531G>C" "r.(=)" "p.(=)" "" "0000862940" "00017236" "70" "32318" "0" "32318" "0" "c.*30815A>G" "r.(=)" "p.(=)" "" "0000890476" "00017236" "70" "464" "0" "464" "0" "c.464A>G" "r.(?)" "p.(Asn155Ser)" "" "0000890477" "00017236" "30" "881" "-6" "881" "-6" "c.881-6T>G" "r.(=)" "p.(=)" "" "0000890478" "00017236" "10" "3099" "0" "3099" "0" "c.*1596C>A" "r.(=)" "p.(=)" "" "0000890479" "00017236" "10" "3114" "0" "3115" "0" "c.*1611_*1612dup" "r.(=)" "p.(=)" "" "0000972061" "00017236" "70" "394" "0" "394" "0" "c.394C>T" "r.(?)" "p.(Arg132Cys)" "4" "0000980182" "00017236" "30" "555" "0" "555" "0" "c.555C>T" "r.(?)" "p.(=)" "" "0000980183" "00017236" "50" "922" "0" "922" "0" "c.922T>A" "r.(?)" "p.(Tyr308Asn)" "" "0001039126" "00017236" "50" "1284" "0" "1284" "0" "c.1284G>C" "r.(?)" "p.(Gln428His)" "" "0001054246" "00017236" "30" "285" "0" "285" "0" "c.285C>T" "r.(?)" "p.(=)" "" "0001054247" "00017236" "50" "381" "0" "381" "0" "c.381T>G" "r.(?)" "p.(Tyr127*)" "" "0001054248" "00017236" "50" "1025" "0" "1025" "0" "c.1025T>C" "r.(?)" "p.(Val342Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 91 "{{screeningid}}" "{{variantid}}" "0000184201" "0000408201" "0000184201" "0000408202" "0000184202" "0000408203" "0000184203" "0000408204" "0000184203" "0000408205" "0000184204" "0000408206" "0000184205" "0000408207" "0000184205" "0000408208" "0000226678" "0000459018" "0000226686" "0000459026" "0000226686" "0000459027" "0000226687" "0000459028" "0000226688" "0000459029" "0000227341" "0000465561" "0000227341" "0000465563" "0000227381" "0000465593" "0000227382" "0000465594" "0000227382" "0000465595" "0000227383" "0000465596" "0000229012" "0000470152" "0000289371" "0000645300" "0000296678" "0000653371" "0000315581" "0000697670" "0000337328" "0000736959" "0000342696" "0000742327" "0000342697" "0000742328" "0000342698" "0000742329" "0000342699" "0000742330" "0000342700" "0000742331" "0000342701" "0000742332" "0000342702" "0000742333" "0000342703" "0000742334" "0000342704" "0000742335" "0000342705" "0000742336" "0000342706" "0000742337" "0000342707" "0000742338" "0000342708" "0000742339" "0000342709" "0000742340" "0000343175" "0000742806" "0000349908" "0000749539" "0000349909" "0000749540" "0000349910" "0000749541" "0000349911" "0000749542" "0000349912" "0000749543" "0000349913" "0000749544" "0000349914" "0000749545" "0000349915" "0000749546" "0000349916" "0000749547" "0000349917" "0000749548" "0000349918" "0000749549" "0000349919" "0000749550" "0000349920" "0000749551" "0000349921" "0000749552" "0000349922" "0000749553" "0000349923" "0000749554" "0000349924" "0000749555" "0000350433" "0000750066" "0000350607" "0000750240" "0000354825" "0000754458" "0000354826" "0000754459" "0000354827" "0000754460" "0000354828" "0000754461" "0000354829" "0000754462" "0000354830" "0000754463" "0000354831" "0000754464" "0000354832" "0000754465" "0000354833" "0000754466" "0000354834" "0000754467" "0000354835" "0000754468" "0000354836" "0000754469" "0000354837" "0000754470" "0000354838" "0000754471" "0000355209" "0000754840" "0000355383" "0000755014" "0000359601" "0000759232" "0000359602" "0000759233" "0000359603" "0000759234" "0000359604" "0000759235" "0000359605" "0000759236" "0000359606" "0000759237" "0000359607" "0000759238" "0000359608" "0000759239" "0000359609" "0000759240" "0000359610" "0000759241" "0000359611" "0000759242" "0000359612" "0000759243" "0000359613" "0000759244" "0000359614" "0000759245" "0000400202" "0000832977" "0000400202" "0000833005" "0000450113" "0000972061"