### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TPM3) # 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}}" "TPM3" "tropomyosin 3" "1" "q21.2" "unknown" "NG_008621.1" "UD_132084500384" "" "https://www.LOVD.nl/TPM3" "" "1" "12012" "7170" "191030" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/TPM3_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2008-09-18 00:00:00" "00006" "2020-11-26 21:10:26" "00006" "2024-10-20 15:03:55" ## 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}}" "00025586" "TPM3" "transcript variant 1" "001" "NM_152263.3" "" "NP_689476.2" "" "" "" "-117" "6982" "858" "154164611" "154134289" "00006" "2020-11-26 21:12:06" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "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" "01959" "CMYO4A;CFTD" "myopathy, congenital, type 4A" "AD" "255310" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-02-07 14:49:08" "02840" "CMYO4B" "myopathy, congenital, type 4B" "AR" "609284" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-02-07 14:48:13" "04164" "NEM" "myopathy, nemaline (NEM)" "" "" "" "" "" "00006" "2014-12-22 16:43:09" "00006" "2018-07-06 19:02:59" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05123" "SMA" "atrophy, muscular, spinal (SMA)" "" "" "" "" "" "00006" "2016-01-24 01:41:54" "" "" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TPM3" "01959" "TPM3" "02840" ## Individuals ## Do not remove or alter this header ## ## Count = 76 "{{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}}" "00037257" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037258" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037259" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00213547" "" "" "" "1" "" "00006" "{PMID:Zhang 2010:20870660}" "" "M" "" "" "" "0" "" "" "" "" "00213548" "" "" "" "1" "" "00006" "{PMID:Li 2011:21072821}" "" "" "" "" "" "0" "" "" "" "" "00213549" "" "" "" "1" "" "00491" "{PMID:Laing 1995:7704029}" "large family" "" "" "Australia" "" "0" "" "" "" "" "00213550" "" "" "" "1" "" "00006" "{PMID:Tan 1999:10619715}" "" "M" "" "Iran" "" "0" "" "" "" "" "00213551" "" "" "" "1" "" "00006" "{PMID:Tan 1999:10619715}" "" "" "" "" "" "0" "" "" "" "" "00213552" "" "" "" "2" "" "00006" "{PMID:Ottenheijm 2011:21357678}" "" "" "" "United States" "" "0" "" "" "" "" "00213553" "" "" "" "1" "" "00464" "" "" "F" "yes" "United States" "" "0" "" "" "Hispanic" "" "00213554" "" "" "" "1" "" "00483" "{PMID:Ottenheijm 2011:21357678}" "consanguinity 3 generations removed, unaffected carrier relatives" "F" "yes" "(United States)" ">9y6m" "0" "" "" "Mexico" "" "00213555" "" "" "" "1" "" "00006" "{PMID:Durling 2002:12467750}" "" "F" "" "Germany" "" "0" "" "" "" "" "00213556" "" "" "" "8" "" "00006" "{PMID:Pennisson-Besnier 2007:17376686}, {OMIM191030:0005}" "4 generation family; 8 affecteds" "" "" "" "" "0" "" "" "" "" "00213557" "" "" "" "1" "" "00464" "" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00213558" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "white" "" "00213559" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "" "" "00213560" "" "" "" "1" "" "00483" "{PMID:Lawlor 2009:19953533}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00213561" "" "" "" "1" "" "00483" "{PMID:Ottenheijm 2011:21357678}" "" "M" "" "United States" "66y" "0" "" "" "" "" "00213562" "" "" "" "4" "" "00006" "{PMID:Clarke 2008:18300303}" "3 generation family, 4 affecteds" "" "" "Martinique" "" "0" "" "" "" "18300303.c" "00213563" "" "" "" "1" "" "00006" "(PMID19553118:dePaula 2009}" "parents unaffected" "M" "" "France" ">42y" "0" "" "" "white" "19553118.P1" "00213564" "" "" "" "1" "" "00006" "{PMID:Munot 2010:20951040}" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "20951040-Cas1" "00213565" "" "" "" "4" "" "00006" "{PMID:Clarke 2008:18300303}" "3 generation family, 4 affecteds" "" "" "" "" "0" "" "" "" "18300303.F4" "00213566" "" "" "" "1" "" "00006" "{PMID:Clarke 2008:18300303}" "" "" "" "" "" "0" "" "" "" "18300303.F3" "00213567" "" "" "" "1" "" "00464" "" "" "" "" "Canada" "" "0" "" "" "French-Canadian" "" "00213568" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "" "" "00213569" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "" "" "00213570" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "" "" "00213571" "" "" "" "1" "" "00006" "{PMID:Clarke 2008:18300303}" "" "" "" "" "" "0" "" "" "" "18300303.F5" "00213572" "" "" "" "1" "" "00006" "{PMID:Ohlsson 2009:19487656}, {OMIM191030:0009}" "heatly, unaffectd parents and sibling" "F" "no" "" ">38y" "0" "" "" "" "19487656-Pat1" "00213573" "" "" "" "1" "" "00006" "{PMID:Tominaga 2010:20179953}" "" "" "" "Japan" "" "0" "" "" "" "20179953-PatTPM3-1" "00213574" "" "" "" "1" "" "00006" "{PMID:Tominaga 2010:20179953}" "" "" "" "Japan" "" "0" "" "" "" "20179953-PatTPM3-2" "00213575" "" "" "" "1" "" "00006" "{PMID:Waddle 2010:20554445}" "" "M" "" "Australia" ">37y" "0" "" "" "" "20554445-Pat1" "00213576" "" "" "" "1" "" "00006" "{PMID:Clarke 2008:18300303}" "" "" "" "" "" "0" "" "" "" "18300303.F2" "00213577" "" "" "" "1" "" "00006" "{PMID:Clarke 2008:18300303}" "" "" "" "" "" "0" "" "" "" "18300303.F1" "00213578" "" "" "" "2" "" "00006" "{PMID:Lehtokari 2008:18382475}, {OMIM191030:0006}" "2 affected brothers; parents from same village" "" "" "Turkey" "" "0" "" "" "" "18382475.F1" "00213579" "" "" "" "1" "" "00006" "{PMID:Lehtokari 2008:18382475}, {OMIM191030:0006}" "sister of 18382475.F2b ; 2nd cousin parents" "F" "" "Turkey" "" "0" "" "" "" "18382475.F2a" "00213580" "" "" "" "1" "" "00006" "{PMID:Lehtokari 2008:18382475}, {OMIM191030:0006}" "brother of 18382475.F2a ; 2nd cousin parents" "M" "" "Turkey" "" "0" "" "" "" "18382475.F2b" "00213581" "" "" "" "1" "" "00483" "{PMID:Lawlor 2009:19953533}" "" "M" "" "(United States)" "" "0" "" "" "" "" "00213582" "" "" "" "1" "" "00483" "{PMID:Lawlor 2009:19953533}" "" "F" "" "United States" "" "0" "" "" "" "" "00213583" "" "" "" "1" "" "00483" "{PMID:Ottenheijm 2011:21357678}" "" "F" "" "(United States)" "" "0" "" "" "" "" "00213584" "" "" "" "1" "" "00483" "{PMID:Ottenheijm 2011:21357678}" "" "F" "" "(United States)" "" "0" "" "" "" "" "00213585" "" "" "" "1" "" "00006" "{PMID:Kiphuth 2010:20012312}" "sister died from sudden cardiac arrest 27y, 5 other siblings lack any neuromuscular symptoms" "F" "no" "Germany" ">57y" "0" "" "" "" "20012312-Cas1" "00213586" "" "" "" "1" "" "00006" "{PMID:Kiphuth 2010:20012312}" "daugther of 20012312-Cas1" "F" "no" "Germany" "" "0" "" "" "" "20012312-Cas2" "00213587" "" "" "" "1" "" "00006" "{PMID:Munot 2010:20951040}" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "20951040-Cas2" "00213588" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "" "" "00213589" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "" "" "00213590" "" "" "" "1" "" "00464" "" "" "M" "" "Sweden" "" "0" "" "" "white" "" "00213591" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "" "00213592" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "" "00213593" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "" "00213594" "" "" "" "1" "" "00542" "" "" "M" "" "" "" "0" "" "" "" "Fam3 (3363)" "00213595" "" "" "" "1" "" "00542" "" "" "M" "" "" "" "0" "" "" "" "Fam5 (20-799)" "00213596" "" "" "" "2" "" "00542" "" "affected mother/daughter" "F" "" "" "" "0" "" "" "" "Fam7" "00213597" "" "" "" "1" "" "00542" "" "" "F" "" "" "" "0" "" "" "" "Fam8 (20-607)" "00213598" "" "" "" "1" "" "00542" "" "" "F" "" "" "" "0" "" "" "" "Fam 29 (20-872)" "00213599" "" "" "" "1" "" "00464" "" "" "" "" "United States" "" "0" "" "" "" "" "00213600" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "" "" "00213601" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "" "" "00213602" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "" "" "00229642" "" "" "" "1" "" "03252" "" "" "F" "yes" "Brazil" "" "0" "" "" "" "" "00274430" "" "" "" "1" "" "00006" "{PMID:Park 2017:27363342}" "" "F" "" "Korea" "" "0" "" "" "" "Pat98" "00288977" "" "" "" "1" "" "00006" "{PMID:Punetha 2016:27854218}" "analysis 94 myopathy cases" "" "" "" "" "0" "" "" "" "Pat31" "00319995" "" "" "" "1" "" "01929" "{PMID:Cerino 2022:35741838}, {PMID:Bevilacqua 2022:35688744}" "sporadic case" "M" "no" "Chile" "" "0" "yes" "" "Spain, Catalunya" "P66/Myo144" "00374802" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3955" "00398953" "" "" "" "1" "" "00006" "{PMID:Natera-de Benito 2021:33333461}" "patient" "F" "" "Spain" "" "0" "" "" "" "Fam50Pat56" "00398954" "" "" "" "1" "" "00006" "{PMID:Natera-de Benito 2021:33333461}" "patient" "F" "" "Spain" "" "0" "" "" "" "Fam51Pat57" "00399037" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "F" "" "Spain" "" "0" "" "" "" "P93" "00404928" "" "" "" "1" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "Fam10" "00404931" "" "" "" "1" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families" "" "" "Iran" "" "0" "" "" "" "Fam13" "00419177" "" "" "" "2" "" "00006" "{PMID:Gurgel-Giannetti 2022:36233295}" "2-generation family, affected son/father" "M" "" "Brazil" "" "0" "" "" "" "Fam7Pat7" "00419178" "" "" "00419177" "1" "" "00006" "{PMID:Gurgel-Giannetti 2022:36233295}" "father" "M" "" "Brazil" "" "0" "" "" "" "Fam7Pat8" "00419928" "" "" "" "1" "" "04393" "{PMID:Pelin 2023:37393515}" "" "M" "no" "Finland" "<05y" "0" "" "" "" "" "00435675" "" "" "" "1" "" "00006" "{PMID:Haidong 2023:37525074}" "patient, family history" "F" "" "China" "" "0" "" "" "" "Pat12" "00435676" "" "" "" "1" "" "00006" "{PMID:Haidong 2023:37525074}" "patient, family history" "F" "" "China" "" "0" "" "" "" "Pat13" "00435677" "" "" "" "1" "" "00006" "{PMID:Haidong 2023:37525074}" "patient, family history" "F" "" "China" "" "0" "" "" "" "Pat14" "00455810" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "M" "" "" "" "0" "" "" "" "Pat50" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 76 "{{individualid}}" "{{diseaseid}}" "00037257" "00198" "00037258" "00198" "00037259" "00198" "00213547" "00198" "00213548" "00198" "00213549" "04164" "00213550" "04164" "00213551" "00000" "00213552" "04164" "00213553" "00244" "00213554" "01959" "00213555" "04164" "00213556" "04164" "00213557" "04164" "00213558" "01959" "00213559" "04164" "00213560" "01959" "00213561" "04164" "00213562" "01959" "00213563" "00244" "00213564" "01959" "00213565" "01959" "00213566" "01959" "00213567" "00244" "00213568" "00244" "00213569" "01959" "00213570" "00244" "00213571" "01959" "00213572" "00244" "00213573" "01959" "00213574" "01959" "00213575" "00244" "00213576" "01959" "00213577" "01959" "00213578" "04164" "00213579" "04164" "00213580" "04164" "00213581" "01959" "00213582" "01959" "00213583" "01959" "00213584" "01959" "00213585" "04164" "00213586" "04164" "00213587" "01959" "00213588" "01959" "00213589" "01959" "00213590" "04164" "00213591" "00198" "00213592" "00198" "00213593" "00198" "00213594" "04164" "00213595" "00244" "00213596" "01959" "00213597" "00244" "00213598" "00244" "00213599" "00244" "00213600" "00244" "00213601" "00244" "00213602" "00244" "00229642" "01959" "00274430" "05121" "00288977" "01959" "00319995" "00244" "00374802" "00198" "00398953" "00244" "00398954" "00244" "00399037" "05618" "00404928" "05123" "00404931" "05123" "00419177" "04164" "00419178" "04164" "00419928" "02840" "00435675" "00244" "00435676" "00244" "00435677" "00244" "00455810" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00244, 01959, 02840, 04164, 05121, 05123, 05618 ## Count = 76 "{{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}}" "0000156859" "00198" "00037257" "01164" "Unknown" "" "suspected Nemaline Myopathie, hypotonia, developmental delay" "" "" "" "" "" "" "" "" "" "nemaline myopathy?" "" "0000156860" "00198" "00037258" "01164" "Unknown" "" "suspected Cap-Myopathie, Spektrum der Nemalinen Myopathie" "" "" "" "" "" "" "" "" "" "nemaline myopathy?" "" "0000156861" "00198" "00037259" "01164" "Unknown" "" "suspected Nemaline Myopathie, hypotonia, developmental delay" "" "" "" "" "" "" "" "" "" "nemaline myopathy?" "" "0000162001" "00198" "00213547" "00006" "Unknown" "" "29y-multiple episodes abdominal pain, CT-scan large left upper quadrant abdominal mass associated with liver lesions" "" "" "" "" "" "" "" "" "" "tumour, myofibroblastic, inflammatory (IMT)" "" "0000162002" "00198" "00213548" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "eukemia, eosinophilic, chronic, pediatric (CEL)" "" "0000162003" "04164" "00213549" "00491" "Familial, autosomal dominant" "" "childhood onset" "" "" "" "" "" "" "" "" "NEM-1" "nemaline myopathy" "" "0000162004" "04164" "00213550" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "NEM-1" "nemaline myopathy" "" "0000162005" "00000" "00213551" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000162006" "04164" "00213552" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "NEM-1" "nemaline myopathy" "" "0000162007" "00244" "00213553" "00464" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "congenital myopathy" "" "0000162008" "01959" "00213554" "00483" "Familial, autosomal recessive" "" "severe; LE initially weaker than UE; 2.3y-marked pectus excavatum; 9.5y-facial weakness, significant dysarthria, scoliosis, severe weakness of upper and lower limbs; 2.5y-ventilator dependent, G-tube; never walked; wheelchair bound allways; no intellectual disability" "3m" "" "hypotonia, head lag, motor delay" "" "" "" "" "" "CFTD" "fiber-type disproportion, congenital" "" "0000162009" "04164" "00213555" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "NEM-1" "nemaline myopathy" "" "0000162010" "04164" "00213556" "00006" "Familial" "" "mild, classical form" "" "" "" "" "" "" "" "" "NEM-1" "nemaline myopathy" "" "0000162011" "04164" "00213557" "00464" "Unknown" "" "static myopathy with respitory failure, facial weakness; CPK normal" "" "" "" "" "" "" "" "" "NEM-1" "nemaline myopathy" "" "0000162012" "01959" "00213558" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "CFTD" "fiber-type disproportion, congenital" "" "0000162013" "04164" "00213559" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "NEM-1" "nemaline myopathy" "" "0000162014" "01959" "00213560" "00483" "Isolated (sporadic)" "" "mild; 18y-myopathic facies, scoliosis, fatigue, difficulty with weight gain, finger/heel cord contractures, mild to moderate weakness of axial/proximal muscles; neck flexors and axial muscles particularly weak; 12y-nocturnal bipap; occasional difficulty chewing and swallowing; walk-18m; able to run; no intellectual disability" "<1m" "" "hypotonia, delayed motor milestones, joint laxity" "" "" "" "" "" "CFTD" "fiber-type disproportion, congenital" "" "0000162015" "04164" "00213561" "00483" "Isolated (sporadic)" "" "mild; requiring occasional nocturnal oxygen; retrospectively recalls difficulty keeping up with peers in childhood; 66y-mild facial weakness, dysarthria, mild scoliosis/hyperlordosis, hypothyroidism, head drop, mild weakness of axial, some proximal/some distal muscles; occasional difficulty chewing and swallowing.; walked until death, used wheelchair for long distances; 66y-died from thyroid cancer; walk; wheelchair bound long distance; no intellectual disability" "58y" "" "respiratory failure" "" "" "" "" "" "NEM-1" "nemaline myopathy" "" "0000162016" "01959" "00213562" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CFTD" "congenital fibre type disproportion" "" "0000162017" "00244" "00213563" "00006" "Isolated (sporadic)" "" "hypotonia first months, motor milestones delayed; 7y-flat feet in valgus with external rotation, long narrow face, high arched palate, mild lumbar hyperlordosis, no amyotrophy, slight distal weakness lower limbs (anterior compartment), tendon reflexes abolished; CPK normal; FVC 0.74 42y" "4y" "" "frequent falls, distal weakness lower limbs" "" "" "" "" "" "" "cap myopathy" "" "0000162018" "01959" "00213564" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CFTD" "fiber-type disproportion, congenital" "" "0000162019" "01959" "00213565" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CFTD" "fiber-type disproportion, congenital" "" "0000162020" "01959" "00213566" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CFTD" "fiber-type disproportion, congenital" "" "0000162021" "00244" "00213567" "00464" "Unknown" "" "fiber type disproportion" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000162022" "00244" "00213568" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000162023" "01959" "00213569" "00464" "Unknown" "" "hypotonia, axial weakness, FTT, muscle biopsy shows CFTD" "" "" "" "" "" "" "" "" "CFTD" "fiber-type disproportion, congenital" "" "0000162024" "00244" "00213570" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "congenital myopathy" "" "0000162025" "01959" "00213571" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CFTD" "fiber-type disproportion, congenital" "" "0000162026" "00244" "00213572" "00006" "Isolated (sporadic)" "" "somewhat delayed motor milestones; 5y-mild motor difficulties, could not keep up with peers, could not run; 18y-muscle biopsy diagnosis congenital myopathy, nemaline rods not identified, EMG myopathic pattern; 21y-hospitalised with pneumonia, tracheostomized, mechanical ventilation initiated, kyphoscoliosis, hypotonia, generalized muscle atrophy, mild muscle weakness, able to sit, walk unsupported, elongated face, high-arched palate, no cardiac involvement; 38y-dependent on mechanical ventilation night; walk, not run; wheelchair bound >38y" "" "" "" "" "" "" "" "" "" "myopathy, congenital (cap disease)" "" "0000162027" "01959" "00213573" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CFTD" "fiber-type disproportion, congenital" "" "0000162028" "01959" "00213574" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CFTD" "fiber-type disproportion, congenital" "" "0000162029" "00244" "00213575" "00006" "Isolated (sporadic)" "" "neonatal truncal hypotonia, slowly improved during childhood; 18m-long myopathic face, open triangular mouth, high-arched palate, narrow chest mainly diaphragmatic breathing, marked generalised hypotonia, absent deep tendon reflexes, exaggerated lumbar lordosis on standing; childhood-stable generalised weakness, difficulty running could not jump, weakness prominent in proximal lower limb muscles, ankle dorsiflexors, neck movements, mild scoliosis; 17y-echocardiogram normal cardiac function, borderline aortic dilatation at the aortic sinuses; 20y-pulmonary vital capacity 37%; sleep study severe hypoventilation, non-invasive nocturnal ventilation was commenced; crawl-10m, walk-15m" "" "" "" "" "" "" "" "" "" "myopathy, congenital (cap disease)" "" "0000162030" "01959" "00213576" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CFTD" "fiber-type disproportion, congenital" "" "0000162031" "01959" "00213577" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CFTD" "fiber-type disproportion, congenital" "" "0000162032" "04164" "00213578" "00006" "Isolated (sporadic)" "" "born with contractures knees and ankles, delayed motor development" "" "" "" "" "" "" "" "" "NEM-1" "nemaline myopathy" "" "0000162033" "04164" "00213579" "00006" "Isolated (sporadic)" "" "muscle hypotonia (1m), facial weakness, lack head control,lax distal joints, scoliosis (1y), delayed motor milestones" "" "" "" "" "" "" "" "" "NEM-1" "nemaline myopathy" "" "0000162034" "04164" "00213580" "00006" "Isolated (sporadic)" "" "muscle hypotonia (1m), facial weakness, lack head control,lax distal joints, scoliosis (1y), delayed motor milestones" "" "" "" "" "" "" "" "" "NEM-1" "nemaline myopathy" "" "0000162035" "01959" "00213581" "00483" "Familial" "" "history of cryptorchidism, PDD/ADHD and verbal learning disorder; 5.5y-facial weakness, but relatively normal tone and strength; able to run, current ability unknown; walk-18m; run" "0d" "" "poor suck, slow feeding, hypotonia" "" "" "" "" "" "CFTD" "fiber-type disproportion, congenital" "" "0000162036" "01959" "00213582" "00483" "Unknown" "" "retrospectively recalls: always slow runner, poor strength, history of myalgia with exertion and distal parathesias; 33y-remature ventricular contractions; 39y-ptosis, myopathic facies, diffuse mild weakness; occasional difficulty with chewing and swallowing; slow feeder, no known respiratory issues; walk-39y; no intellectual disability" "" "" "" "" "" "" "" "" "CFTD" "fiber-type disproportion, congenital" "" "0000162037" "01959" "00213583" "00483" "Isolated (sporadic)" "" "moderate; 8.75y-facial weakness, ptosis, dysarthria, diffuse muscle weakness (especially axial), and lordosis; 8y-nocturnal bi-pap; walk-5y; never run; no intellectual disability" "<0d" "" "abnormal posture, gross motor delay" "" "" "" "" "" "CFTD" "fiber-type disproportion, congenital" "" "0000162038" "01959" "00213584" "00483" "Isolated (sporadic)" "" "poor weight gain/suck as infant; 14m-dysarthria, no head/neck control, not ambulatory, moderate diffuse weakness" "2m" "" "bifacial paresis, hypotonia" "" "" "" "" "" "CFTD" "fiber-type disproportion, congenital" "" "0000162039" "04164" "00213585" "00006" "Isolated (sporadic)" "" "40y-respiratory problems exertional/nocturnal; 54y-pulmonological workup hypercapnic respiratory failure, severe restriction vital capacity, moderate restriction total lung capacity; nocturnal continuous positive airway pressure ventilation initiated; cardiological investigations normal; 54y-muscle biopsy myopathic features, type 1-fiber predominance; 57y-long face, mild facial weakness, high arched palate, slender build, generalized muscle weakness/wasting accentuated in proximal muscle groups, winging of both scapulae and moderate thoracic scoliosis; no swallowing difficulties; CPK normal" "" "" "generalized muscle weakness" "" "" "" "" "" "NEM-1" "nemaline myopathy" "" "0000162040" "04164" "00213586" "00006" "Familial, autosomal dominant" "" "6m-muscle biopsy no clearcut myopathological diagnosis, no nemaline rods, MRI-Whole body muscle MRI mirrored findings mother, much less pronounced" "" "" "floppy, delayed motor milestones" "" "" "" "" "" "NEM-1" "nemaline myopathy" "" "0000162041" "01959" "00213587" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CFTD" "fiber-type disproportion, congenital" "" "0000162042" "01959" "00213588" "00464" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CFTD" "fiber-type disproportion, congenital" "" "0000162043" "01959" "00213589" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "CFTD" "fiber-type disproportion, congenital" "" "0000162044" "04164" "00213590" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "NEM-1" "nemaline myopathy" "" "0000162045" "00198" "00213591" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000162046" "00198" "00213592" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000162047" "00198" "00213593" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000162048" "04164" "00213594" "00542" "Familial, autosomal dominant" "" "muscle soreness, no facial weakness, asymmetry, lower limbs weaker than upper, progression, proximal and distal weakness ; wheelchair bound >70y" "" "" "" "" "" "" "" "" "NEM-1" "nemaline myopathy" "" "0000162049" "00244" "00213595" "00542" "Familial" "" "moderate scapular and pelvic weakness (61y); wheelchair bound >61y" "64y" "" "" "" "" "" "" "" "" "congenital myopathy" "" "0000162050" "01959" "00213596" "00542" "Familial, autosomal dominant" "" "mild proximal weakness involving trunk, shoulder and hip girdle, minimal involvement of facial and neck muscles, no progression, reflexes absent apart from ankle jerks (1/4), high-arched palate; walk-2y; run-2y" "" "" "" "" "" "" "" "" "CFTD" "congenital fibre type disproportion" "" "0000162051" "00244" "00213597" "00542" "Familial, autosomal dominant" "" "axial weakness, neck flexor weakness, mildly rigid spine, lumbar hyperlordosis, mild proximal weakness" "3m" "" "weakness neck flexor" "" "" "" "" "" "" "cap myopathy" "" "0000162052" "00244" "00213598" "00542" "Familial, autosomal dominant" "" "scapular amyotrophy, lumbar lordosis, myopathic facies, patellar areflexia; walk-2y6m" "1d" "" "hypotonia" "" "" "" "" "" "" "congenital myopathy" "" "0000162053" "00244" "00213599" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "congenital myopathy" "" "0000162054" "00244" "00213600" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "congenital myopathy" "" "0000162055" "00244" "00213601" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "congenital myopathy" "" "0000162056" "00244" "00213602" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "congenital myopathy" "" "0000172866" "01959" "00229642" "03252" "Familial, autosomal recessive" "12y" "Mild proximal weakness, myopathic face, high arched palate, scapula winging" "01y?" "04y" "1y?" "" "" "" "" "" "" "" "" "0000209373" "05121" "00274430" "00006" "Familial, autosomal dominant" "" "Predominant weakness of proximal and axial muscles, mild ptosis, elongated face, high arched palate, scoliosis and respiratory failure; muscle myopathic pattern with type I predominance; CK 40 IU/L; ECG or echo normal; familial" "2y" "22y" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000222612" "01959" "00288977" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CFTD" "CFTD" "" "0000242122" "00244" "00319995" "01929" "Isolated (sporadic)" "47y" "nasal speech HP:0001611; exercise intolerance HP:0003546; Polycythemia HP:0001901; Bilateral ptosis HP:0001488; Epicanthus HP:0000286; Retrognathia HP:0000278; High palate HP:0000218; Facial diplegia HP:0001349; Myopathy, Congenital, With Fiber-type Disproportion OMIM:255310; Cap Myopathy ORPHA:171881; Exertional dyspnea HP:0002875" "" "47y" "nasal speech (HP:0001611); exercise intolerance (HP:0003546)" "" "" "" "" "" "TPM3 congenital myopathy" "myopathy" "" "0000270012" "00198" "00374802" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000292042" "00244" "00398953" "00006" "Familial, autosomal dominant" "17y" "motor delay; 1y6m-walk, run; no ptosis; no ophthalmoplegia; facial weakness; no flexor weakness; proximal weaksness, no distal weakness; 18y-no cardiac involvement" "1y" "" "motor delay" "" "" "" "" "" "" "congenital myopathy" "" "0000292043" "00244" "00398954" "00006" "Familial, autosomal dominant" "5y" "newborn hypotonia; 2y-walk, run; no ptosis; no ophthalmoplegia; facial weakness; flexor weakness; proximal weaksness, distal weakness; 4y-nocturnal noninvasive ventilation; 2y-no cardiac involvement" "1d" "" "newborn hypotonia" "" "" "" "" "" "" "congenital myopathy" "" "0000292125" "05618" "00399037" "00006" "Unknown" "" "serum CK normal; muscle biopsy congenital fiber type disproportion; scoliosis, myopathic facies, generalized hypotonia" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000297486" "05123" "00404928" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "spinal muscular atrophy" "" "0000297489" "05123" "00404931" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "spinal muscular atrophy" "" "0000310465" "04164" "00419177" "00006" "Unknown" "19y" "" "" "" "" "" "" "" "" "" "NEM1" "nemaline myopathy" "" "0000310466" "04164" "00419178" "00006" "Unknown" "62y" "" "" "" "" "" "" "" "" "" "NEM1" "nemaline myopathy" "" "0000311197" "02840" "00419928" "04393" "Familial, autosomal recessive" "00y" "Failure to thrive (HP:0001508); high, narrow palate (HP:0002705); poor head control (HP:0002421); generalized hypotonia (HP0001290); respiratory insufficiency due to muscle weakness (HP:0002747); type 1 muscle fiber atrophy (HP:0011807); type 1 fibers relatively smaller than type 2 fibers (HP:0003755); nemaline bodies (HP:0003798); central nuclei (HP:0003687)." "" "" "" "" "" "" "" "" "NEM1" "NEM" "" "0000325859" "00244" "00435675" "00006" "Familial, autosomal recessive" "30y" "see paper; ..., initial symptom lower limbs weakness; muscle weakness upper limbs proximal V/distal V, lower limbs proximal III/distal III; high arched palate, elongated face; CK level 115U/L" "" "" "" "" "" "" "" "" "" "lower limbs weakness" "" "0000325860" "00244" "00435676" "00006" "Familial, autosomal recessive" "33y" "see paper; ..., initial symptom lower limbs weakness; muscle weakness upper limbs proximal V/distal V, lower limbs proximal IV/distal IV; high arched palate, elongated face; CK level 146U/L" "" "" "" "" "" "" "" "" "" "lower limbs weakness" "" "0000325861" "00244" "00435677" "00006" "Familial, autosomal recessive" "32y" "see paper; ..., initial symptom lower limbs weakness; muscle weakness upper limbs proximal V/distal V, lower limbs proximal IV/distal IV; high arched palate, elongated face; CK level 164U/L" "" "" "" "" "" "" "" "" "" "lower limbs weakness" "" "0000344343" "00198" "00455810" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "NEM1" "neurogenetic diseases" "" ## Screenings ## Do not remove or alter this header ## ## Count = 76 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000037327" "00037257" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037328" "00037258" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037329" "00037259" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000214617" "00213547" "1" "00006" "00006" "2012-03-18 14:27:26" "" "" "FISH;RT-PCR;SEQ" "DNA;RNA" "" "" "0000214618" "00213548" "1" "00006" "00006" "2012-03-18 14:27:26" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000214619" "00213549" "1" "00491" "00006" "2008-09-22 10:14:28" "00006" "2012-03-18 11:13:32" "SEQ" "DNA" "" "" "0000214620" "00213550" "1" "00006" "00006" "2008-09-22 10:14:28" "00006" "2012-03-18 11:13:32" "SSCA;SEQ" "DNA" "" "" "0000214621" "00213551" "1" "00006" "00006" "2008-09-22 10:14:28" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000214622" "00213552" "1" "00006" "00006" "2008-09-22 10:14:28" "00006" "2012-03-18 12:25:52" "SEQ" "DNA" "" "" "0000214623" "00213553" "1" "00464" "00006" "2014-09-23 17:53:19" "00006" "2014-09-24 07:59:26" "PCR;SEQ" "DNA" "" "" "0000214624" "00213554" "1" "00483" "00006" "2009-06-17 17:17:12" "00006" "2012-03-18 12:26:26" "PCR;SEQ" "DNA" "" "" "0000214625" "00213555" "1" "00006" "00006" "2008-09-22 10:14:28" "00006" "2012-03-18 11:13:32" "SEQ" "DNA" "" "" "0000214626" "00213556" "1" "00006" "00006" "2008-09-22 10:14:28" "00006" "2012-03-18 11:13:32" "SEQ" "DNA" "" "" "0000214627" "00213557" "1" "00464" "00006" "2009-08-13 21:34:33" "00006" "2017-03-31 14:13:45" "SEQ" "DNA" "" "" "0000214628" "00213558" "1" "00464" "00006" "2011-09-19 18:56:56" "00006" "2013-02-01 19:44:13" "PCR;SEQ" "DNA" "" "" "0000214629" "00213559" "1" "00464" "00006" "2014-09-23 17:50:19" "00006" "2014-09-24 07:57:59" "SEQ-NG" "DNA" "" "" "0000214630" "00213560" "1" "00483" "00006" "2009-06-17 17:31:33" "00006" "2017-03-31 14:13:45" "PCR;SEQ" "DNA" "" "" "0000214631" "00213561" "1" "00483" "00006" "2009-08-28 15:29:44" "00006" "2012-03-18 12:28:52" "PCR;SEQ" "DNA" "" "" "0000214632" "00213562" "1" "00006" "00006" "2008-09-22 10:14:28" "00006" "2012-03-18 13:26:42" "SEQ" "DNA" "" "" "0000214633" "00213563" "1" "00006" "00006" "2009-10-24 16:44:11" "00006" "2012-03-09 19:17:22" "SEQ" "DNA" "" "" "0000214634" "00213564" "1" "00006" "00006" "2012-03-18 12:13:17" "00006" "2017-03-31 14:13:45" "SEQ" "DNA" "" "" "0000214635" "00213565" "1" "00006" "00006" "2008-09-22 10:14:28" "00006" "2012-03-18 11:15:19" "SEQ" "DNA" "" "" "0000214636" "00213566" "1" "00006" "00006" "2008-09-22 10:14:28" "00006" "2012-03-18 11:15:19" "SEQ" "DNA" "" "" "0000214637" "00213567" "1" "00464" "00006" "2009-12-21 17:20:27" "00006" "2012-10-23 21:21:32" "PCR;SEQ" "DNA" "" "" "0000214638" "00213568" "1" "00464" "00006" "2010-10-15 22:03:34" "00006" "2012-10-23 21:23:18" "PCR;SEQ" "DNA" "" "" "0000214639" "00213569" "1" "00464" "00006" "2011-09-02 22:06:01" "00006" "2013-02-01 19:44:13" "PCR;SEQ" "DNA" "" "" "0000214640" "00213570" "1" "00464" "00006" "2014-09-23 17:46:23" "00006" "2014-09-24 07:57:18" "SEQ-NG" "DNA" "" "" "0000214641" "00213571" "1" "00006" "00006" "2008-09-22 10:14:28" "00006" "2012-03-18 11:15:19" "SEQ" "DNA" "" "" "0000214642" "00213572" "1" "00006" "00006" "2012-03-18 14:27:26" "00006" "2012-03-18 14:29:08" "SEQ" "DNA" "" "" "0000214643" "00213573" "1" "00006" "00006" "2012-03-18 14:27:26" "" "" "SEQ" "DNA" "" "" "0000214644" "00213574" "1" "00006" "00006" "2012-03-18 14:27:26" "" "" "SEQ" "DNA" "" "" "0000214645" "00213575" "1" "00006" "00006" "2012-03-18 14:27:26" "00006" "2012-03-18 14:30:01" "SEQ" "DNA" "" "" "0000214646" "00213576" "1" "00006" "00006" "2008-09-22 10:14:28" "00006" "2012-03-18 11:15:19" "SEQ" "DNA" "" "" "0000214647" "00213577" "1" "00006" "00006" "2008-09-22 10:14:28" "00006" "2012-03-18 11:15:19" "SEQ" "DNA" "" "" "0000214648" "00213578" "1" "00006" "00006" "2008-09-22 10:14:28" "00006" "2012-03-18 11:13:32" "SEQ" "DNA" "" "" "0000214649" "00213579" "1" "00006" "00006" "2008-09-22 10:14:28" "00006" "2012-03-18 11:13:32" "SEQ" "DNA" "" "" "0000214650" "00213580" "1" "00006" "00006" "2008-09-22 10:14:28" "00006" "2012-03-18 11:13:32" "RT-PCR;SEQ" "RNA;DNA" "" "" "0000214651" "00213581" "1" "00483" "00006" "2009-06-17 17:13:34" "00006" "2012-03-18 11:20:14" "PCR;SEQ" "DNA" "" "" "0000214652" "00213582" "1" "00483" "00006" "2009-08-28 15:19:51" "00006" "2012-03-18 11:23:25" "PCR;SEQ" "DNA" "" "" "0000214653" "00213583" "1" "00483" "00006" "2009-06-17 17:15:26" "00006" "2012-03-18 12:27:29" "PCR;SEQ" "DNA" "" "" "0000214654" "00213584" "1" "00483" "00006" "2009-06-17 17:18:33" "00006" "2012-03-18 12:28:09" "PCR;SEQ" "DNA" "" "" "0000214655" "00213585" "1" "00006" "00006" "2012-03-18 12:13:17" "00006" "2012-03-18 12:14:48" "SEQ" "DNA" "" "" "0000214656" "00213586" "1" "00006" "00006" "2012-03-18 12:13:17" "" "" "SEQ" "DNA" "" "" "0000214657" "00213587" "1" "00006" "00006" "2012-03-18 12:13:17" "00006" "2017-03-31 14:13:45" "SEQ" "DNA" "" "" "0000214658" "00213588" "1" "00464" "00006" "2012-09-28 22:39:01" "00006" "2012-10-26 12:25:39" "PCR;SEQ" "DNA" "" "" "0000214659" "00213589" "1" "00464" "00006" "2014-09-23 17:42:47" "00006" "2014-09-24 07:56:35" "SEQ-NG" "DNA" "" "" "0000214660" "00213590" "1" "00464" "00006" "2012-10-19 16:27:59" "00006" "2012-10-23 21:20:17" "PCR;SEQ" "DNA" "" "" "0000214661" "00213591" "1" "00430" "00006" "2012-10-26 15:31:13" "" "" "SEQ" "DNA" "" "" "0000214662" "00213592" "1" "00430" "00006" "2012-10-26 15:31:13" "" "" "SEQ" "DNA" "" "" "0000214663" "00213593" "1" "00430" "00006" "2012-10-26 15:31:13" "" "" "SEQ" "DNA" "" "" "0000214664" "00213594" "1" "00542" "00006" "2013-08-28 13:50:55" "00006" "2013-08-31 16:44:12" "SEQ" "DNA" "" "" "0000214665" "00213595" "1" "00542" "00006" "2013-08-28 14:06:15" "00006" "2013-08-31 16:48:13" "SEQ" "DNA" "" "" "0000214666" "00213596" "1" "00542" "00006" "2013-08-28 14:17:25" "00006" "2013-08-31 16:51:49" "SEQ" "DNA" "" "" "0000214667" "00213597" "1" "00542" "00006" "2013-08-28 14:23:47" "00006" "2013-08-31 16:53:59" "SEQ" "DNA" "" "" "0000214668" "00213598" "1" "00542" "00006" "2013-09-01 08:00:48" "00006" "2013-09-02 20:01:37" "SEQ" "DNA" "" "" "0000214669" "00213599" "1" "00464" "00006" "2014-09-23 17:29:56" "00006" "2014-09-24 07:50:22" "PCR;SEQ" "DNA" "" "" "0000214670" "00213600" "1" "00464" "00006" "2014-09-23 17:32:45" "00006" "2014-09-24 07:54:31" "PCR;SEQ" "DNA" "" "" "0000214671" "00213601" "1" "00464" "00006" "2014-09-23 17:37:07" "00006" "2014-09-24 07:53:41" "PCR;SEQ" "DNA" "" "" "0000214672" "00213602" "1" "00464" "00006" "2014-09-23 17:39:07" "00006" "2014-09-24 07:54:48" "PCR;SEQ" "DNA" "" "" "0000230735" "00229642" "1" "03252" "03252" "2019-04-05 19:57:46" "" "" "SEQ-NG" "DNA" "" "" "0000275589" "00274430" "1" "00006" "00006" "2019-12-30 09:59:36" "" "" "SEQ;SEQ-NG" "DNA" "" "69-gene panel muscular disorder" "0000290145" "00288977" "1" "00006" "00006" "2020-02-24 21:34:22" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000321177" "00319995" "1" "01929" "01929" "2020-11-14 03:59:07" "" "" "SEQ-NG-I" "DNA" "saliva" "122 gene NGS panel Invitae" "0000375996" "00374802" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000400198" "00398953" "1" "00006" "00006" "2022-01-14 16:20:15" "" "" "SEQ;SEQ-NG" "DNA" "" "gene or gene panel" "0000400199" "00398954" "1" "00006" "00006" "2022-01-14 16:20:15" "" "" "SEQ;SEQ-NG" "DNA" "" "gene or gene panel" "0000400282" "00399037" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" "0000406166" "00404928" "1" "00006" "00006" "2022-03-10 21:18:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000406169" "00404931" "1" "00006" "00006" "2022-03-10 21:18:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420477" "00419177" "1" "00006" "00006" "2022-10-17 13:56:55" "" "" "SEQ" "DNA" "" "" "0000420478" "00419178" "1" "00006" "00006" "2022-10-17 13:56:55" "" "" "SEQ" "DNA" "" "" "0000421233" "00419928" "1" "04393" "04393" "2022-10-26 10:47:04" "" "" "arrayCGH;RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000437156" "00435675" "1" "00006" "00006" "2023-08-09 09:56:20" "" "" "SEQ" "DNA" "" "" "0000437157" "00435676" "1" "00006" "00006" "2023-08-09 09:56:20" "" "" "SEQ" "DNA" "" "" "0000437158" "00435677" "1" "00006" "00006" "2023-08-09 09:56:20" "" "" "SEQ" "DNA" "" "" "0000457426" "00455810" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 73 "{{screeningid}}" "{{geneid}}" "0000037327" "TPM3" "0000037328" "TPM3" "0000037329" "TPM3" "0000214617" "TPM3" "0000214618" "TPM3" "0000214619" "TPM3" "0000214620" "TPM3" "0000214621" "TPM3" "0000214622" "TPM3" "0000214623" "TPM3" "0000214624" "TPM3" "0000214625" "TPM3" "0000214626" "TPM3" "0000214627" "TPM3" "0000214628" "TPM3" "0000214629" "TPM3" "0000214630" "TPM3" "0000214631" "TPM3" "0000214632" "TPM3" "0000214633" "TPM3" "0000214634" "TPM3" "0000214635" "TPM3" "0000214636" "TPM3" "0000214637" "TPM3" "0000214638" "TPM3" "0000214639" "TPM3" "0000214640" "TPM3" "0000214641" "TPM3" "0000214642" "TPM3" "0000214643" "TPM3" "0000214644" "TPM3" "0000214645" "TPM3" "0000214646" "TPM3" "0000214647" "TPM3" "0000214648" "TPM3" "0000214649" "TPM3" "0000214650" "TPM3" "0000214651" "TPM3" "0000214652" "TPM3" "0000214653" "TPM3" "0000214654" "TPM3" "0000214655" "TPM3" "0000214656" "TPM3" "0000214657" "TPM3" "0000214658" "TPM3" "0000214659" "TPM3" "0000214660" "TPM3" "0000214661" "TPM3" "0000214662" "TPM3" "0000214663" "TPM3" "0000214664" "TPM3" "0000214665" "TPM3" "0000214666" "TPM3" "0000214667" "TPM3" "0000214668" "TPM3" "0000214669" "TPM3" "0000214670" "TPM3" "0000214671" "TPM3" "0000214672" "TPM3" "0000275589" "TPM3" "0000290145" "TPM3" "0000321177" "TPM3" "0000375996" "PDHA1" "0000420477" "TPM3" "0000420478" "TPM3" "0000421233" "CSDA" "0000421233" "OBSL1" "0000421233" "RYR1" "0000421233" "SRPK3" "0000421233" "TPM3" "0000437156" "TPM3" "0000437157" "TPM3" "0000437158" "TPM3" ## 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 = 112 "{{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}}" "0000064452" "1" "10" "1" "154141908" "154141908" "subst" "0.607324" "01164" "TPM3_000022" "g.154141908A>G" "" "" "" "" "" "Germline" "" "rs4845364" "0" "" "" "g.154169432A>G" "" "benign" "" "0000064453" "1" "50" "1" "154145610" "154145610" "subst" "0" "01164" "TPM3_000033" "g.154145610G>T" "" "" "" "" "PolyPhen-2: PSIC: 0.991 (probably damaging)" "Germline" "" "" "0" "" "" "g.154173134G>T" "" "VUS" "" "0000064454" "1" "50" "1" "154144067" "154144068" "dup" "0" "01164" "TPM3_000032" "g.154144067_154144068dup" "" "" "" "" "" "Germline" "" "rs5777891" "0" "" "" "g.154171591_154171592dup" "" "VUS" "" "0000316956" "0" "50" "1" "154164377" "154164377" "subst" "4.0709E-6" "01943" "TPM3_000034" "g.154164377C>T" "" "" "" "TPM3(NM_152263.2):c.117+1G>A, TPM3(NM_152263.3):c.117+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154191901C>T" "" "VUS" "" "0000342050" "0" "90" "1" "154145448" "154145448" "subst" "0" "02327" "TPM3_000009" "g.154145448G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154172972G>A" "" "pathogenic" "" "0000446935" "1" "90" "1" "0" "0" "" "0" "00006" "TPM3_000000" "g.?" "" "{PMID:Zhang 2010:20870660}" "" "" "TPM3-ALK fusion gene/transcript" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000446936" "0" "90" "1" "0" "0" "" "0" "00006" "TPM3_000000" "g.[NC_000005.9:149507614_qter]delins154138067_pter" "" "{PMID:Li 2011:21072821}" "" "TPM3-PDGFRB fusion" "translocation fusion TPM3 intron 8/PDGFRB intron 10 (NG_023367.1:1580-1437_1580-1436)" "DUPLICATE record" "" "" "0" "" "t(1;5)(q21.2;q33.1)" "" "" "pathogenic" "" "0000446937" "1" "90" "1" "154164469" "154164469" "subst" "0" "00491" "TPM3_000001" "g.154164469A>C" "" "{PMID:Laing 1995:07704029}, {OMIM191030:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.154191993A>C" "" "pathogenic (dominant)" "" "0000446938" "1" "90" "1" "154164401" "154164401" "subst" "0" "00006" "TPM3_000002" "g.154164401G>A" "" "{PMID:Tan 1999:10619715}, {OMIM191030:0004}" "" "Q31X" "" "Germline" "" "" "0" "" "" "g.154191925G>A" "" "pathogenic" "" "0000446939" "2" "90" "1" "154164401" "154164401" "subst" "0" "00006" "TPM3_000002" "g.154164401G>A" "" "{PMID:Tan 1999:10619715}, {OMIM191030:0004}" "" "Q31X" "" "Germline" "" "" "0" "" "" "g.154191925G>A" "" "pathogenic" "" "0000446940" "0" "10" "1" "154148729" "154148729" "subst" "0" "00006" "TPM3_000003" "g.154148729A>G" "" "{PMID:Tan 1999:10619715}" "" "" "" "Germline" "" "" "0" "" "" "g.154176253A>G" "" "benign" "" "0000446941" "21" "90" "1" "154140417" "154140417" "subst" "2.05155E-5" "00006" "TPM3_000004" "g.154140417C>T" "" "{PMID:Wattanasirichaigoon 2002:12196661}, {OMIM191030:0003}" "" "855-1G>A" "not in 218 control chromosomes; RNA muscle, reduced efficiency" "Germline" "" "" "0" "" "" "g.154167941C>T" "" "pathogenic" "" "0000446942" "11" "90" "1" "154140414" "154140414" "subst" "1.2307E-5" "00006" "TPM3_000005" "g.154140414T>G" "" "{PMID:Wattanasirichaigoon 2002:12196661}, {OMIM191030:0002}" "" "915A>C" "not in 218 control chromosomes" "Germline" "" "" "0" "" "" "g.154167938T>G" "" "pathogenic" "" "0000446943" "10" "90" "1" "154140414" "154140414" "subst" "1.2307E-5" "00464" "TPM3_000005" "g.154140414T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154167938T>G" "" "pathogenic (recessive)" "" "0000446944" "20" "90" "1" "154140414" "154140414" "subst" "1.2307E-5" "00464" "TPM3_000005" "g.154140414T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154167938T>G" "" "pathogenic (recessive)" "" "0000446945" "10" "70" "1" "154140414" "154140414" "subst" "1.2307E-5" "00483" "TPM3_000005" "g.154140414T>G" "<1/280" "{PMID:Lawlor 2009:19953533}" "" "" "" "Germline" "" "" "0" "" "" "g.154167938T>G" "" "likely pathogenic" "" "0000446946" "20" "70" "1" "154140414" "154140414" "subst" "1.2307E-5" "00483" "TPM3_000005" "g.154140414T>G" "<1/280" "{PMID:Lawlor 2009:19953533}" "" "" "" "Germline" "" "" "0" "" "" "g.154167938T>G" "" "likely pathogenic" "" "0000446947" "1" "90" "1" "154145447" "154145447" "subst" "0" "00006" "TPM3_000006" "g.154145447C>T" "" "{PMID:Durling 2002:12467750}" "" "" "not in 200 control chromosome; ACTA1 normal; de novo, in patient" "De novo" "" "" "0" "" "" "g.154172971C>T" "" "pathogenic" "" "0000446948" "1" "90" "1" "154145447" "154145447" "subst" "0" "00006" "TPM3_000006" "g.154145447C>T" "" "{PMID:Pennisson-Besnier 2007:17376686}, {OMIM191030:0005}" "" "" "not in 200 control chromosome; ACTA1, TPM2 normal" "Germline" "" "" "0" "" "" "g.154172971C>T" "" "pathogenic" "" "0000446949" "0" "70" "1" "154145447" "154145447" "subst" "0" "00464" "TPM3_000006" "g.154145447C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154172971C>T" "" "likely pathogenic" "" "0000446950" "0" "90" "1" "154145447" "154145447" "subst" "0" "00464" "TPM3_000006" "g.154145447C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154172971C>T" "" "pathogenic" "" "0000446951" "1" "90" "1" "154145447" "154145447" "subst" "0" "00464" "TPM3_000006" "g.154145447C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154172971C>T" "" "pathogenic" "" "0000446952" "0" "70" "1" "154145447" "154145447" "subst" "0" "00483" "TPM3_000006" "g.154145447C>T" "<1/200" "{PMID:Lawlor 2009:19953533}" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.154172971C>T" "" "likely pathogenic" "" "0000446953" "0" "70" "1" "154145447" "154145447" "subst" "0" "00483" "TPM3_000006" "g.154145447C>T" "<1/200" "{PMID:Lawlor 2009:19953533}" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.154172971C>T" "" "likely pathogenic" "" "0000446954" "1" "90" "1" "154145447" "154145447" "subst" "0" "00006" "TPM3_000006" "g.154145447C>T" "" "{PMID:Clarke 2008:18300303}, {OMIM191030:0005}" "" "" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.154172971C>T" "" "pathogenic (dominant)" "" "0000446955" "0" "90" "1" "154145447" "154145447" "subst" "0" "00006" "TPM3_000006" "g.154145447C>T" "" "{PMID:de Paula 2009:19553118}, {OMIM191030:0005}" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.154172971C>T" "" "pathogenic" "" "0000446956" "1" "90" "1" "154145447" "154145447" "subst" "0" "00006" "TPM3_000006" "g.154145447C>T" "" "{PMID:Munot 2010:20951040}" "" "" "no variants in CHRNE, DOK7, FBN1, MTM1, DM1, RYR1, SEPN1, ACTA1, RAPSN" "Germline" "" "" "0" "" "" "g.154172971C>T" "" "pathogenic" "" "0000446957" "1" "90" "1" "154148670" "154148670" "subst" "0" "00006" "TPM3_000007" "g.154148670G>T" "" "{PMID:Clarke 2008:18300303}, {OMIM191030:0007}" "" "" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.154176194G>T" "" "pathogenic (dominant)" "" "0000446958" "1" "90" "1" "154145448" "154145448" "subst" "0" "00006" "TPM3_000008" "g.154145448G>C" "" "{PMID:Clarke 2008:18300303}, {OMIM191030:0008}" "" "" "not in 200 control chromosomes; de novo" "De novo" "" "" "0" "" "" "g.154172972G>C" "" "pathogenic" "" "0000446959" "0" "70" "1" "154145448" "154145448" "subst" "0" "00464" "TPM3_000009" "g.154145448G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154172972G>A" "" "likely pathogenic" "" "0000446960" "0" "90" "1" "154145448" "154145448" "subst" "0" "00464" "TPM3_000009" "g.154145448G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154172972G>A" "" "pathogenic" "" "0000446961" "0" "90" "1" "154145448" "154145448" "subst" "0" "00464" "TPM3_000009" "g.154145448G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154172972G>A" "" "pathogenic" "" "0000446962" "1" "90" "1" "154145448" "154145448" "subst" "0" "00464" "TPM3_000009" "g.154145448G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154172972G>A" "" "pathogenic" "" "0000446963" "1" "90" "1" "154145448" "154145448" "subst" "0" "00006" "TPM3_000009" "g.154145448G>A" "" "{PMID:Clarke 2008:18300303}, {OMIM191030:0009}" "" "" "not in 200 control chromosomes; de novo, in patient" "De novo" "" "" "0" "" "" "g.154172972G>A" "" "pathogenic" "" "0000446964" "1" "90" "1" "154145448" "154145448" "subst" "0" "00006" "TPM3_000009" "g.154145448G>A" "" "{PMID:Ohlsson 2009:19487656}, {OMIM191030:0009}" "" "" "not in 200 control chromosomes; de novo, in patient" "De novo" "" "" "0" "" "" "g.154172972G>A" "" "pathogenic" "" "0000446965" "1" "90" "1" "154145448" "154145448" "subst" "0" "00006" "TPM3_000009" "g.154145448G>A" "" "{PMID:Tominaga 2010:20179953}" "" "" "" "Unknown" "" "" "0" "" "" "g.154172972G>A" "" "pathogenic" "" "0000446966" "1" "90" "1" "154145448" "154145448" "subst" "0" "00006" "TPM3_000009" "g.154145448G>A" "" "{PMID:Tominaga 2010:20179953}" "" "" "" "Unknown" "" "" "0" "" "" "g.154172972G>A" "" "pathogenic" "" "0000446967" "1" "90" "1" "154145448" "154145448" "subst" "0" "00006" "TPM3_000009" "g.154145448G>A" "" "{PMID:Waddle 2010:20554445}" "" "" "not in 200 control chromosomes; de novo, in patient" "De novo" "" "" "0" "" "" "g.154172972G>A" "" "pathogenic" "" "0000446968" "1" "90" "1" "154145445" "154145445" "subst" "0" "00006" "TPM3_000010" "g.154145445T>C" "" "{PMID:Clarke 2008:18300303}" "" "" "not in 200 control chromosomes; de novo, in patient" "De novo" "" "" "0" "" "" "g.154172969T>C" "" "pathogenic" "" "0000446969" "1" "90" "1" "154142918" "154142918" "subst" "0" "00006" "TPM3_000011" "g.154142918T>C" "" "{PMID:Clarke 2008:18300303}" "" "" "not in 200 control chromosomes; de novo, in patient" "De novo" "" "" "0" "" "" "g.154170442T>C" "" "pathogenic" "" "0000446970" "11" "90" "1" "154140416" "154140416" "del" "0" "00006" "TPM3_000012" "g.154140416del" "" "{PMID:Lehtokari 2008:18382475}, {OMIM191030:0006}" "" "913delA" "" "Germline" "" "" "0" "" "" "g.154167940del" "" "pathogenic" "" "0000446971" "21" "90" "1" "154140416" "154140416" "del" "0" "00006" "TPM3_000012" "g.154140416del" "" "{PMID:Lehtokari 2008:18382475}, {OMIM191030:0006}" "" "913delA" "" "Germline" "" "" "0" "" "" "g.154167940del" "" "pathogenic" "" "0000446972" "11" "90" "1" "154140416" "154140416" "del" "0" "00006" "TPM3_000012" "g.154140416del" "" "{PMID:Lehtokari 2008:18382475}, {OMIM191030:0006}" "" "913delA" "" "Germline" "" "" "0" "" "" "g.154167940del" "" "pathogenic" "" "0000446973" "21" "90" "1" "154140416" "154140416" "del" "0" "00006" "TPM3_000012" "g.154140416del" "" "{PMID:Lehtokari 2008:18382475}, {OMIM191030:0006}" "" "913delA" "" "Germline" "" "" "0" "" "" "g.154167940del" "" "pathogenic" "" "0000446974" "11" "90" "1" "154140416" "154140416" "del" "0" "00006" "TPM3_000012" "g.154140416del" "" "{PMID:Lehtokari 2008:18382475}, {OMIM191030:0006}" "" "913delA" "not in 240 control chromosomes; RNA muscle" "Germline" "" "" "0" "" "" "g.154167940del" "" "pathogenic" "" "0000446975" "21" "90" "1" "154140416" "154140416" "del" "0" "00006" "TPM3_000012" "g.154140416del" "" "{PMID:Lehtokari 2008:18382475}, {OMIM191030:0006}" "" "913delA" "not in 240 control chromosomes; RNA muscle" "Germline" "" "" "0" "" "" "g.154167940del" "" "pathogenic" "" "0000446976" "21" "70" "1" "154164484" "154164484" "subst" "0" "00483" "TPM3_000013" "g.154164484G>A" "<1/280" "{PMID:Lawlor 2009:19953533}" "" "" "" "Germline" "" "" "0" "" "" "g.154192008G>A" "" "likely pathogenic" "" "0000446977" "0" "70" "1" "154164484" "154164484" "subst" "0" "00483" "TPM3_000013" "g.154164484G>A" "<1/280" "{PMID:Lawlor 2009:19953533}" "" "" "" "Germline" "" "" "0" "" "" "g.154192008G>A" "" "likely pathogenic" "" "0000446978" "0" "70" "1" "154142930" "154142930" "subst" "0" "00483" "TPM3_000014" "g.154142930C>T" "<1/280" "{PMID:Lawlor 2009:19953533}" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.154170454C>T" "" "likely pathogenic" "" "0000446979" "0" "70" "1" "154148696" "154148696" "subst" "0" "00483" "TPM3_000015" "g.154148696C>G" "<1/280" "{PMID:Lawlor 2009:19953533}" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.154176220C>G" "" "likely pathogenic" "" "0000446980" "1" "90" "1" "154145589" "154145589" "subst" "0" "00006" "TPM3_000016" "g.154145589C>T" "" "{PMID:Kiphuth 2010:20012312}" "" "" "not in 218 control chromosomes" "Unknown" "" "" "0" "" "" "g.154173113C>T" "" "pathogenic" "" "0000446981" "21" "90" "1" "154145589" "154145589" "subst" "0" "00006" "TPM3_000016" "g.154145589C>T" "" "{PMID:Kiphuth 2010:20012312}" "" "" "not in 218 control chromosomes" "Germline" "" "" "0" "" "" "g.154173113C>T" "" "pathogenic (dominant)" "" "0000446982" "1" "90" "1" "154145429" "154145429" "subst" "0" "00006" "TPM3_000017" "g.154145429T>G" "" "{PMID:Munot 2010:20951040}" "" "" "probably de novo" "Unknown" "" "" "0" "" "" "g.154172953T>G" "" "pathogenic" "" "0000446983" "1" "70" "1" "154145597" "154145599" "dup" "0" "00464" "TPM3_000018" "g.154145597_154145599dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.154173121_154173123dup" "" "likely pathogenic" "" "0000446984" "1" "70" "1" "154145597" "154145599" "dup" "0" "00464" "TPM3_000018" "g.154145597_154145599dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154173121_154173123dup" "" "likely pathogenic" "" "0000446985" "1" "70" "1" "154164488" "154164488" "subst" "0" "00464" "TPM3_000019" "g.154164488C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.154192012C>G" "" "likely pathogenic" "" "0000446986" "0" "50" "1" "154164452" "154164452" "subst" "0" "00430" "TPM3_000020" "g.154164452C>G" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.154191976C>G" "" "VUS" "" "0000446987" "0" "50" "1" "154143885" "154143885" "subst" "8.12797E-6" "00430" "TPM3_000021" "g.154143885C>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.154171409C>A" "" "VUS" "" "0000446988" "0" "10" "1" "154141908" "154141908" "subst" "0.607324" "00430" "TPM3_000022" "g.154141908A>G" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.154169432A>G" "" "benign" "" "0000446989" "0" "70" "1" "154148705" "154148705" "subst" "0" "00542" "TPM3_000023" "g.154148705G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154176229G>A" "" "likely pathogenic" "" "0000446990" "0" "70" "1" "154148697" "154148697" "subst" "0" "00542" "TPM3_000024" "g.154148697G>A" "" "" "" "" "probable mosaicism" "Unknown" "" "" "0" "" "" "g.154176221G>A" "" "likely pathogenic" "" "0000446991" "0" "50" "1" "154148670" "154148670" "subst" "0" "00542" "TPM3_000025" "g.154148670G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154176194G>C" "" "VUS" "" "0000446992" "0" "70" "1" "154145603" "154145603" "subst" "0" "00542" "TPM3_000026" "g.154145603T>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.154173127T>G" "" "likely pathogenic" "" "0000446993" "0" "50" "1" "154142893" "154142893" "subst" "0" "00542" "TPM3_000027" "g.154142893G>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.154170417G>T" "" "VUS" "" "0000446994" "21" "10" "1" "154164403" "154164403" "subst" "0.00133729" "00464" "TPM3_000028" "g.154164403T>G" "" "" "" "" "" "Germline" "" "rs62000429" "0" "" "" "g.154191927T>G" "" "benign" "" "0000446995" "0" "70" "1" "154163667" "154163667" "subst" "0" "00464" "TPM3_000029" "g.154163667C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154191191C>G" "" "likely pathogenic" "" "0000446996" "0" "10" "1" "154148641" "154148641" "subst" "0.000203056" "00464" "TPM3_000030" "g.154148641A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154176165A>C" "" "benign" "" "0000446997" "1" "10" "1" "154148719" "154148719" "subst" "0.000247929" "00464" "TPM3_000031" "g.154148719C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154176243C>T" "" "benign" "" "0000446998" "0" "90" "1" "154164469" "154164469" "subst" "0" "00006" "TPM3_000001" "g.154164469A>C" "" "{PMID:Michele 1999:10587521}, {OMIM191030:0001}" "" "" "adenovirus transduced rat cardiac myocytes, incorporated correctly, decreased sensitivity contraction, no direct nemaline rod formation" "In vitro (cloned)" "" "" "0" "" "" "g.154191993A>C" "" "NA" "" "0000446999" "0" "90" "1" "154164469" "154164469" "subst" "0" "00006" "TPM3_000001" "g.154164469A>C" "" "{PMID:Moraczewska 2000:11106625}" "" "" "rat TPM3 expressed in E.coli, 30-100x reduced affinity for actin, Ca2+-sensitive regulatory function retained" "In vitro (cloned)" "" "" "0" "" "" "g.154191993A>C" "" "NA" "" "0000447000" "0" "90" "1" "154164469" "154164469" "subst" "0" "00006" "TPM3_000001" "g.154164469A>C" "" "{PMID:Greenfield 2002:11964245}" "" "" "N-terminal TPM3 fragment, circular dichroism tropomodulin binding abolished" "In vitro (cloned)" "" "" "0" "" "" "g.154191993A>C" "" "NA" "" "0000447001" "0" "90" "1" "154164469" "154164469" "subst" "0" "00006" "TPM3_000001" "g.154164469A>C" "" "{PMID:Akkari 2002:12163017}" "" "" "recombinant TPM3 (Baculovirus expression), above 100x reduced actin binding" "In vitro (cloned)" "" "" "0" "" "" "g.154191993A>C" "" "NA" "" "0000447002" "0" "90" "1" "154164469" "154164469" "subst" "0" "00006" "TPM3_000001" "g.154164469A>C" "" "{PMID:Ilkovski 2008:18716557}" "" "" "" "In vitro (cloned)" "" "" "0" "" "" "g.154191993A>C" "" "NA" "" "0000447003" "0" "90" "1" "154164469" "154164469" "subst" "0" "00006" "TPM3_000001" "g.154164469A>C" "" "{PMID:Corbett 2004:15562513}, {OMIM191030:0001}" "" "" "mouse model; TPM2 decreased, alpha/beta heterodimer formation reduced" "animal model" "" "" "0" "" "" "g.154191993A>C" "" "pathogenic (dominant)" "" "0000447041" "0" "90" "1" "0" "0" "" "0" "00006" "TPM3_000035" "g.154138067_qterdelins[NC_000005.9:149507614_qter]" "" "{PMID:Li 2011:21072821}" "" "" "" "Somatic" "" "" "0" "" "t(1;5)(q21.2;q33.1)" "" "" "pathogenic" "" "0000472352" "3" "90" "1" "154145415" "154145415" "subst" "0" "03252" "TPM3_000036" "g.154145415G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.154172939G>C" "" "pathogenic (recessive)" "" "0000503493" "0" "50" "1" "154148607" "154148607" "subst" "0" "01804" "TPM3_000038" "g.154148607C>A" "" "" "" "TPM3(NM_152263.3):c.361G>T (p.(Ala121Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154176131C>A" "" "VUS" "" "0000503494" "0" "50" "1" "154163786" "154163786" "subst" "0" "02327" "TPM3_000040" "g.154163786A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154191310A>C" "" "VUS" "" "0000629650" "1" "70" "1" "154145448" "154145448" "subst" "0" "00006" "TPM3_000009" "g.154145448G>A" "1/209 cases" "{PMID:Park 2017:27363342}" "" "" "" "Germline" "" "" "0" "" "" "g.154172972G>A" "" "likely pathogenic (dominant)" "" "0000646769" "1" "70" "1" "154145448" "154145448" "subst" "0" "00006" "TPM3_000008" "g.154145448G>C" "1/94 cases" "{PMID:Punetha 2016:27854218}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.154172972G>C" "" "likely pathogenic (recessive)" "" "0000653771" "0" "70" "1" "154145447" "154145447" "subst" "0" "02327" "TPM3_000006" "g.154145447C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154172971C>T" "" "likely pathogenic" "" "0000703979" "1" "70" "1" "154142942" "154142942" "subst" "0" "01929" "TPM3_000041" "g.154142942C>T" "ExAc no frequency" "{PMID:Cerino 2022:35741838}, {PMID:Bevilacqua 2022:35688744}" "" "" "ACMG PS4_sup, PM2, PP3, PP4_mod" "Germline" "?" "" "0" "" "" "g.154170466C>T" "" "likely pathogenic (dominant)" "ACMG" "0000716868" "0" "50" "1" "154142914" "154142914" "subst" "0" "02329" "TPM3_000037" "g.154142914G>A" "" "" "" "TPM3(NM_152263.4):c.737C>T (p.S246L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716869" "0" "90" "1" "154145448" "154145448" "subst" "0" "02329" "TPM3_000008" "g.154145448G>C" "" "" "" "TPM3(NM_152263.4):c.502C>G (p.R168G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000787602" "0" "50" "1" "154164430" "154164430" "subst" "0" "00000" "TPM3_000042" "g.154164430C>T" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.154191954C>T" "{CV-RCV:000551766.1}" "VUS" "" "0000798800" "0" "50" "1" "154164431" "154164431" "subst" "4.06494E-6" "02327" "TPM3_000043" "g.154164431G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000825390" "0" "90" "1" "154142942" "154142942" "subst" "0" "03779" "TPM3_000041" "g.154142942C>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000832973" "1" "90" "1" "154145447" "154145447" "subst" "0" "00006" "TPM3_000006" "g.154145447C>T" "" "{PMID:Natera-de Benito 2021:33333461}" "" "" "ACMG PM1, PM2, PM5, PM6, PP2, PP3" "Germline" "" "" "0" "" "" "g.154172971C>T" "" "pathogenic (dominant)" "ACMG" "0000832974" "1" "90" "1" "154145448" "154145448" "subst" "0" "00006" "TPM3_000009" "g.154145448G>A" "" "{PMID:Natera-de Benito 2021:33333461}" "" "" "ACMG PM1, PM2, PM5, PM6, PP2, PP3" "Germline" "" "" "0" "" "" "g.154172972G>A" "" "pathogenic (dominant)" "ACMG" "0000833089" "1" "70" "1" "154142918" "154142918" "subst" "0" "00006" "TPM3_000011" "g.154142918T>C" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.154170442T>C" "" "likely pathogenic" "" "0000842397" "3" "90" "1" "154163757" "154163757" "del" "0" "00006" "TPM3_000044" "g.154163757del" "" "{PMID:Sharifi 2021:33481221}" "" "c.149delA" "" "Germline" "" "" "0" "" "" "g.154191281del" "" "pathogenic (recessive)" "ACMG" "0000842400" "3" "70" "1" "154164417" "154164417" "delins" "0" "00006" "TPM3_000045" "g.154164417delinsTGCCT" "" "{PMID:Sharifi 2021:33481221}" "" "c.78delTinsAGGCA" "" "Germline" "" "" "0" "" "" "g.154191941delinsTGCCT" "" "likely pathogenic (recessive)" "ACMG" "0000848313" "0" "50" "1" "154143887" "154143887" "subst" "0" "02329" "TPM3_000046" "g.154143887A>G" "" "" "" "TPM3(NM_152263.4):c.642+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857025" "0" "50" "1" "154130197" "154130197" "subst" "1.62637E-5" "01943" "NUP210L_000002" "g.154130197T>C" "" "" "" "TPM3(NM_001278189.1):c.744A>G (p.I248M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857026" "0" "30" "1" "154145366" "154145366" "subst" "0.00130756" "01804" "TPM3_000047" "g.154145366G>C" "" "" "" "TPM3(NM_001043351.1):c.455+18C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857027" "0" "30" "1" "154164403" "154164403" "subst" "0.00133729" "01804" "TPM3_000028" "g.154164403T>G" "" "" "" "TPM3(NM_152263.3):c.92A>C (p.(Lys31Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000880814" "0" "90" "1" "154145448" "154145448" "subst" "0" "00006" "TPM3_000009" "g.154145448G>A" "" "{PMID:Gurgel-Giannetti 2022:36233295}" "" "" "ACMG PM2 PS4 PP3 PM6" "Germline" "" "" "0" "" "" "g.154172972G>A" "" "pathogenic" "ACMG" "0000880815" "0" "90" "1" "154145448" "154145448" "subst" "0" "00006" "TPM3_000009" "g.154145448G>A" "" "{PMID:Gurgel-Giannetti 2022:36233295}" "" "" "ACMG PM2 PS4 PP3 PM6" "Germline" "" "" "0" "" "" "g.154172972G>A" "" "pathogenic" "ACMG" "0000881861" "21" "90" "1" "154164214" "154164214" "subst" "0" "04393" "TPM3_000048" "g.154164214G>A" "" "{PMID:Pelin 2023:37393515}" "" "" "" "Germline" "" "" "0" "" "" "g.154191738G>A" "" "likely pathogenic (recessive)" "" "0000881862" "11" "90" "1" "154164376" "154164379" "del" "0" "04393" "TPM3_000049" "g.154164376_154164379del" "" "{PMID:Pelin 2023:37393515}" "" "117+2_5delTAGG" "" "Germline" "" "" "0" "" "" "g.154191900_154191903del" "" "likely pathogenic (recessive)" "" "0000882795" "0" "50" "1" "154163733" "154163733" "subst" "0" "02329" "TPM3_000050" "g.154163733G>C" "" "" "" "TPM3(NM_152263.4):c.172C>G (p.L58V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931938" "1" "50" "1" "154143884" "154143884" "subst" "0" "00006" "TPM3_000052" "g.154143884C>T" "" "{PMID:Haidong 2023:37525074}" "" "" "" "Germline" "" "" "0" "" "" "g.154171408C>T" "" "VUS" "" "0000931939" "1" "50" "1" "154143884" "154143884" "subst" "0" "00006" "TPM3_000052" "g.154143884C>T" "" "{PMID:Haidong 2023:37525074}" "" "" "" "Germline" "" "" "0" "" "" "g.154171408C>T" "" "VUS" "" "0000931940" "1" "50" "1" "154143884" "154143884" "subst" "0" "00006" "TPM3_000052" "g.154143884C>T" "" "{PMID:Haidong 2023:37525074}" "" "" "" "Germline" "" "" "0" "" "" "g.154171408C>T" "" "VUS" "" "0000931953" "2" "50" "1" "154140388" "154140388" "subst" "0" "00006" "TPM3_000051" "g.154140388C>T" "" "{PMID:Haidong 2023:37525074}" "" "" "" "Germline" "" "" "0" "" "" "g.154167912C>T" "" "VUS" "" "0000931954" "2" "50" "1" "154140388" "154140388" "subst" "0" "00006" "TPM3_000051" "g.154140388C>T" "" "{PMID:Haidong 2023:37525074}" "" "" "" "Germline" "" "" "0" "" "" "g.154167912C>T" "" "VUS" "" "0000931955" "2" "50" "1" "154140388" "154140388" "subst" "0" "00006" "TPM3_000051" "g.154140388C>T" "" "{PMID:Haidong 2023:37525074}" "" "" "" "Germline" "" "" "0" "" "" "g.154167912C>T" "" "VUS" "" "0000946983" "0" "90" "1" "154164487" "154164487" "subst" "0" "02327" "TPM3_000053" "g.154164487T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000973337" "0" "50" "1" "154163670" "154163670" "subst" "0" "01804" "TPM3_000054" "g.154163670C>G" "" "" "" "TPM3(NM_152263.4):c.235G>C (p.(Ala79Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990358" "0" "50" "1" "154164377" "154164377" "subst" "4.0709E-6" "01804" "TPM3_000034" "g.154164377C>T" "" "" "" "TPM3(NM_152263.2):c.117+1G>A, TPM3(NM_152263.3):c.117+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990359" "0" "50" "1" "154164430" "154164430" "subst" "0" "01804" "TPM3_000042" "g.154164430C>T" "" "" "" "TPM3(NM_152263.3):c.65G>A (p.(Arg22Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001011929" "0" "90" "1" "154145447" "154145447" "subst" "0" "00006" "TPM3_000055" "g.154145447C>A" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Unknown" "" "" "0" "" "" "g.154172971C>A" "RCV000013263.28" "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 TPM3 ## Count = 112 "{{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}}" "0000064452" "00025586" "10" "776" "-49" "776" "-49" "c.776-49T>C" "r.(=)" "p.(=)" "" "0000064453" "00025586" "50" "445" "0" "445" "0" "c.445C>A" "r.(=)" "p.(Leu149Ile)" "" "0000064454" "00025586" "50" "567" "-98" "567" "-97" "c.567-98_567-97dup" "r.(=)" "p.(=)" "" "0000316956" "00025586" "50" "117" "1" "117" "1" "c.117+1G>A" "r.spl?" "p.?" "" "0000342050" "00025586" "90" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Cys)" "" "0000446935" "00025586" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "?" "0000446936" "00025586" "90" "0" "0" "0" "0" "c.776_*6124{0}" "r._-117_775::NM_002609.3:r.1580_*1924" "p.?" "8i" "0000446937" "00025586" "90" "26" "0" "26" "0" "c.26T>G" "r.(?)" "p.(Met9Arg)" "1" "0000446938" "00025586" "90" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Gln32*)" "1" "0000446939" "00025586" "90" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Gln32*)" "1" "0000446940" "00025586" "10" "244" "-5" "244" "-5" "c.244-5T>C" "r.(=)" "p.(=)" "2i" "0000446941" "00025586" "90" "855" "-1" "855" "-1" "c.855-1G>A" "r.855_*6123delins*10216_*12633" "p.=" "9i" "0000446942" "00025586" "90" "857" "0" "857" "0" "c.857A>C" "r.(?)" "p.(*286Serext*?)" "10" "0000446943" "00025586" "90" "857" "0" "857" "0" "c.857A>C" "r.(?)" "p.(*286Serext*?)" "10" "0000446944" "00025586" "90" "857" "0" "857" "0" "c.857A>C" "r.(?)" "p.(*286Serext*?)" "10" "0000446945" "00025586" "70" "857" "0" "857" "0" "c.857A>C" "r.(?)" "p.(*286Serext*?)" "10" "0000446946" "00025586" "70" "857" "0" "857" "0" "c.857A>C" "r.(?)" "p.(*286Serext*?)" "10" "0000446947" "00025586" "90" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Arg168His)" "5" "0000446948" "00025586" "90" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Arg168His)" "5" "0000446949" "00025586" "70" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Arg168His)" "5" "0000446950" "00025586" "90" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Arg168His)" "5" "0000446951" "00025586" "90" "503" "0" "503" "0" "c.503G>A" "r.(0)" "p.(Arg168His)" "5" "0000446952" "00025586" "70" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Arg168His)" "5" "0000446953" "00025586" "70" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Arg168His)" "5" "0000446954" "00025586" "90" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Arg168His)" "5" "0000446955" "00025586" "90" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(arg168His)" "5" "0000446956" "00025586" "90" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Arg168His)" "5" "0000446957" "00025586" "90" "298" "0" "298" "0" "c.298C>A" "r.(?)" "p.(Leu100Met)" "3" "0000446958" "00025586" "90" "502" "0" "502" "0" "c.502C>G" "r.(?)" "p.(Arg168Gly)" "5" "0000446959" "00025586" "70" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Cys)" "5" "0000446960" "00025586" "90" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Cys)" "5" "0000446961" "00025586" "90" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Cys)" "5" "0000446962" "00025586" "90" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Cys)" "5" "0000446963" "00025586" "90" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Cys)" "5" "0000446964" "00025586" "90" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Cys)" "5" "0000446965" "00025586" "90" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Cys)" "5" "0000446966" "00025586" "90" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Cys)" "5" "0000446967" "00025586" "90" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Cys)" "5" "0000446968" "00025586" "90" "505" "0" "505" "0" "c.505A>G" "r.(?)" "p.(Lys169Glu)" "5" "0000446969" "00025586" "90" "733" "0" "733" "0" "c.733A>G" "r.(?)" "p.(Arg245Gly)" "8" "0000446970" "00025586" "90" "855" "0" "855" "0" "c.855del" "r.(?)" "p.(*286Asnext*74)" "10" "0000446971" "00025586" "90" "855" "0" "855" "0" "c.855del" "r.(?)" "p.(*286Asnext*74)" "10" "0000446972" "00025586" "90" "855" "0" "855" "0" "c.855del" "r.(?)" "p.(*286Asnext*74)" "10" "0000446973" "00025586" "90" "855" "0" "855" "0" "c.855del" "r.(?)" "p.(*286Asnext*74)" "10" "0000446974" "00025586" "90" "855" "0" "855" "0" "c.855del" "r.855del" "p.*286Asnext*74" "10" "0000446975" "00025586" "90" "855" "0" "855" "0" "c.855del" "r.855del" "p.*286Asnext*74" "10" "0000446976" "00025586" "70" "11" "0" "11" "0" "c.11C>T" "r.(?)" "p.(Ala4Val)" "1" "0000446977" "00025586" "70" "11" "0" "11" "0" "c.11C>T" "r.(?)" "p.(Ala4Val)" "1" "0000446978" "00025586" "70" "721" "0" "721" "0" "c.721G>A" "r.(?)" "p.(Glu241Lys)" "8" "0000446979" "00025586" "70" "272" "0" "272" "0" "c.272G>C" "r.(?)" "p.(Arg91Pro)" "3" "0000446980" "00025586" "90" "466" "0" "466" "0" "c.466G>A" "r.(?)" "p.(Ala156Thr)" "4" "0000446981" "00025586" "90" "466" "0" "466" "0" "c.466G>A" "r.(?)" "p.(Ala156Thr)" "4" "0000446982" "00025586" "90" "521" "0" "521" "0" "c.521A>C" "r.(?)" "p.(Glu174Ala)" "5" "0000446983" "00025586" "70" "456" "0" "458" "0" "c.456_458dup" "r.(?)" "p.(Ala152_Lys153insAsn)" "4" "0000446984" "00025586" "70" "456" "0" "458" "0" "c.456_458dup" "r.(?)" "p.(Ala152_Lys153insAsn)" "4" "0000446985" "00025586" "70" "7" "0" "7" "0" "c.7G>C" "r.(?)" "p.(Glu3Gln)" "1" "0000446986" "00025586" "50" "43" "0" "43" "0" "c.43G>C" "r.(?)" "p.(Asp15His)" "1" "0000446987" "00025586" "50" "642" "4" "642" "4" "c.642+4G>T" "r.spl?" "p.?" "6i" "0000446988" "00025586" "10" "776" "-49" "776" "-49" "c.776-49T>C" "r.(?)" "p.(=)" "8i" "0000446989" "00025586" "70" "263" "0" "263" "0" "c.263C>T" "r.(?)" "p.(Ser88Phe)" "3" "0000446990" "00025586" "70" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Arg91Cys)" "3" "0000446991" "00025586" "50" "298" "0" "298" "0" "c.298C>G" "r.(?)" "p.(Leu100Val)" "3" "0000446992" "00025586" "70" "452" "0" "452" "0" "c.452A>C" "r.(?)" "p.(Glu151Ala)" "4" "0000446993" "00025586" "50" "758" "0" "758" "0" "c.758C>A" "r.(?)" "p.(Thr253Lys)" "8" "0000446994" "00025586" "10" "92" "0" "92" "0" "c.92A>C" "r.(?)" "p.(Lys31Thr)" "1" "0000446995" "00025586" "70" "238" "0" "238" "0" "c.238G>C" "r.(?)" "p.(Ala80Pro)" "2" "0000446996" "00025586" "10" "327" "0" "327" "0" "c.327T>G" "r.(?)" "p.(=)" "3" "0000446997" "00025586" "10" "249" "0" "249" "0" "c.249G>A" "r.(?)" "p.(=)" "3" "0000446998" "00025586" "90" "26" "0" "26" "0" "c.26T>G" "r.(?)" "p.Met9Arg" "1" "0000446999" "00025586" "90" "26" "0" "26" "0" "c.26T>G" "r.(?)" "p.Met9Arg" "1" "0000447000" "00025586" "90" "26" "0" "26" "0" "c.26T>G" "r.(?)" "p.Met9Arg" "1" "0000447001" "00025586" "90" "26" "0" "26" "0" "c.26T>G" "r.(?)" "p.Met9Arg" "1" "0000447002" "00025586" "90" "26" "0" "26" "0" "c.26T>G" "r.(?)" "p.Met9Arg" "1" "0000447003" "00025586" "90" "26" "0" "26" "0" "c.(26T>G)" "r.26u>g" "p.Met9Arg" "1" "0000447041" "00025586" "90" "0" "0" "0" "0" "c.-117_*6124{0}" "NM_002609.3:r.-469_1579::NM_153649.3:r.665_*2326" "p.?" "" "0000472352" "00025586" "90" "535" "0" "535" "0" "c.535C>G" "r.(?)" "p.(Arg179Gly)" "4" "0000503493" "00025586" "50" "361" "0" "361" "0" "c.361G>T" "r.(?)" "p.(Ala121Ser)" "" "0000503494" "00025586" "50" "119" "0" "119" "0" "c.119T>G" "r.(?)" "p.(Leu40Arg)" "" "0000629650" "00025586" "70" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Cys)" "" "0000646769" "00025586" "70" "502" "0" "502" "0" "c.502C>G" "r.(?)" "p.(Arg168Gly)" "" "0000653771" "00025586" "70" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Arg168His)" "" "0000703979" "00025586" "70" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "8" "0000716868" "00025586" "50" "737" "0" "737" "0" "c.737C>T" "r.(?)" "p.(Ser246Leu)" "" "0000716869" "00025586" "90" "502" "0" "502" "0" "c.502C>G" "r.(?)" "p.(Arg168Gly)" "" "0000787602" "00025586" "50" "65" "0" "65" "0" "c.65G>A" "r.(?)" "p.(Arg22Gln)" "1" "0000798800" "00025586" "50" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22Trp)" "" "0000825390" "00025586" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000832973" "00025586" "90" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Arg168His)" "" "0000832974" "00025586" "70" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Cys)" "" "0000833089" "00025586" "70" "733" "0" "733" "0" "c.733A>G" "r.(?)" "p.(Arg245Gly)" "" "0000842397" "00025586" "90" "149" "0" "149" "0" "c.149del" "r.(?)" "p.(Lys50SerfsTer2)" "" "0000842400" "00025586" "70" "78" "0" "78" "0" "c.78delinsAGGCA" "r.(?)" "p.(Glu27Glyfs*4)" "" "0000848313" "00025586" "50" "642" "2" "642" "2" "c.642+2T>C" "r.spl?" "p.?" "" "0000857025" "00025586" "50" "11074" "0" "11074" "0" "c.*10216A>G" "r.(=)" "p.(=)" "" "0000857026" "00025586" "30" "566" "18" "566" "18" "c.566+18C>G" "r.(=)" "p.(=)" "" "0000857027" "00025586" "30" "92" "0" "92" "0" "c.92A>C" "r.(?)" "p.(Lys31Thr)" "" "0000880814" "00025586" "90" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Cys)" "" "0000880815" "00025586" "90" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Cys)" "" "0000881861" "00025586" "90" "117" "164" "117" "164" "c.117+164C>T" "r.117_118ins117+169_117+273" "p.Lys40Thrfs*20" "1i" "0000881862" "00025586" "90" "117" "2" "117" "5" "c.117+2_117+5del" "r.117_118ins[g;117+6_118-1]" "p.Leu40Alafs*10" "1i" "0000882795" "00025586" "50" "172" "0" "172" "0" "c.172C>G" "r.(?)" "p.(Leu58Val)" "" "0000931938" "00025586" "50" "642" "5" "642" "5" "c.642+5G>A" "r.spl?" "p.?" "6i" "0000931939" "00025586" "50" "642" "5" "642" "5" "c.642+5G>A" "r.spl?" "p.?" "6i" "0000931940" "00025586" "50" "642" "5" "642" "5" "c.642+5G>A" "r.spl?" "p.?" "6i" "0000931953" "00025586" "50" "883" "0" "883" "0" "c.*25G>A" "r.?" "p.?" "10" "0000931954" "00025586" "50" "883" "0" "883" "0" "c.*25G>A" "r.?" "p.?" "10" "0000931955" "00025586" "50" "883" "0" "883" "0" "c.*25G>A" "r.?" "p.?" "10" "0000946983" "00025586" "90" "8" "0" "8" "0" "c.8A>G" "r.(?)" "p.(Glu3Gly)" "" "0000973337" "00025586" "50" "235" "0" "235" "0" "c.235G>C" "r.(?)" "p.(Ala79Pro)" "" "0000990358" "00025586" "50" "117" "1" "117" "1" "c.117+1G>A" "r.spl?" "p.?" "" "0000990359" "00025586" "50" "65" "0" "65" "0" "c.65G>A" "r.(?)" "p.(Arg22Gln)" "" "0001011929" "00025586" "90" "503" "0" "503" "0" "c.503G>T" "r.(?)" "p.(Arg168Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 88 "{{screeningid}}" "{{variantid}}" "0000037327" "0000064452" "0000037328" "0000064453" "0000037329" "0000064454" "0000214617" "0000446935" "0000214618" "0000446936" "0000214618" "0000447041" "0000214619" "0000446937" "0000214620" "0000446938" "0000214620" "0000446939" "0000214621" "0000446940" "0000214622" "0000446941" "0000214622" "0000446942" "0000214623" "0000446943" "0000214623" "0000446944" "0000214624" "0000446945" "0000214624" "0000446946" "0000214625" "0000446947" "0000214626" "0000446948" "0000214627" "0000446949" "0000214628" "0000446950" "0000214629" "0000446951" "0000214630" "0000446952" "0000214631" "0000446953" "0000214632" "0000446954" "0000214633" "0000446955" "0000214634" "0000446956" "0000214635" "0000446957" "0000214636" "0000446958" "0000214637" "0000446959" "0000214638" "0000446960" "0000214639" "0000446961" "0000214640" "0000446962" "0000214641" "0000446963" "0000214642" "0000446964" "0000214643" "0000446965" "0000214644" "0000446966" "0000214645" "0000446967" "0000214646" "0000446968" "0000214647" "0000446969" "0000214648" "0000446970" "0000214648" "0000446971" "0000214649" "0000446972" "0000214649" "0000446973" "0000214650" "0000446974" "0000214650" "0000446975" "0000214651" "0000446976" "0000214652" "0000446977" "0000214653" "0000446978" "0000214654" "0000446979" "0000214655" "0000446980" "0000214656" "0000446981" "0000214657" "0000446982" "0000214658" "0000446983" "0000214659" "0000446984" "0000214660" "0000446985" "0000214661" "0000446986" "0000214662" "0000446987" "0000214663" "0000446988" "0000214664" "0000446989" "0000214665" "0000446990" "0000214666" "0000446991" "0000214667" "0000446992" "0000214668" "0000446993" "0000214669" "0000446994" "0000214670" "0000446995" "0000214671" "0000446996" "0000214672" "0000446997" "0000230735" "0000472352" "0000275589" "0000629650" "0000290145" "0000646769" "0000321177" "0000703979" "0000375996" "0000787602" "0000400198" "0000832973" "0000400199" "0000832974" "0000400282" "0000833089" "0000406166" "0000842397" "0000406169" "0000842400" "0000420477" "0000880814" "0000420478" "0000880815" "0000421233" "0000881861" "0000421233" "0000881862" "0000437156" "0000931938" "0000437156" "0000931953" "0000437157" "0000931939" "0000437157" "0000931954" "0000437158" "0000931940" "0000437158" "0000931955" "0000457426" "0001011929"