### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = MATR3)
# 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}}"
"MATR3" "matrin 3" "5" "q31.3" "unknown" "NG_012846.1" "UD_132085406469" "" "https://www.LOVD.nl/MATR3" "" "1" "6912" "9782" "164015" "1" "1" "1" "1" "This database is one of the gene variant databases from the:![](\"docs/LOVD_LMDp-logo.png\")
" "" "g" "https://databases.lovd.nl/shared/refseq/MATR3_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2010-03-01 00:00:00" "00006" "2019-12-30 12:47:26" "00000" "2025-05-05 21:14:00"
## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00025354" "MATR3" "transcript variant 1" "001" "NM_199189.2" "" "NP_954659.1" "" "" "" "-778" "4826" "2544" "138609441" "138667366" "00006" "2018-12-27 11:52:37" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"02574" "ALS21;MPD2" "sclerosis, lateral, amyotrophic, type 21 (ALS21, distal myopathy type 2 (MPD2))" "AD" "606070" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04255" "ALS" "sclerosis, lateral, amyotrophic (ALS)" "" "" "" "" "" "00015" "2015-05-08 11:45:27" "00006" "2015-12-08 23:53:05"
"05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"MATR3" "02574"
## Individuals ## Do not remove or alter this header ##
## Count = 34
"{{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}}"
"00050575" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" ""
"00151565" "" "" "" "1" "" "00006" "{PMID:Lin 2015:25771394}, {DOI:Lin 2015:10.1016/j.neurobiolaging.2015.02.008}" "" "" "" "Taiwan" "" "0" "" "" "Chinese, Han" "25771394-Pat"
"00151567" "" "" "" "1" "" "00006" "{PMID:Lin 2015:25771394}, {DOI:Lin 2015:10.1016/j.neurobiolaging.2015.02.008}" "" "" "" "Taiwan" "" "0" "" "" "Chinese, Han" "25771394-Pat"
"00151568" "" "" "" "1" "" "00006" "{PMID:Lin 2015:25771394}, {DOI:Lin 2015:10.1016/j.neurobiolaging.2015.02.008}" "" "" "" "Taiwan" "" "0" "" "" "Chinese, Han" "25771394-Pat"
"00210058" "" "" "" "35" "" "00006" "{PMID:Feit 1998:9837826}" "5-generation family, 47 affecteds" "" "" "United States" "" "0" "" "" "white" "09837826-Fam"
"00210059" "" "" "" "1" "" "00006" "{PMID:Feit 1998:9837826}" "from large family" "M" "" "United States" ">56y" "0" "" "" "white" "09837826-IV.2"
"00210060" "" "" "" "1" "" "00006" "{PMID:Feit 1998:9837826}" "from large family" "M" "" "United States" ">48y" "0" "" "" "white" "09837826-IV.4"
"00210061" "" "" "" "1" "" "00006" "{PMID:Feit 1998:9837826}" "from large family" "M" "" "United States" ">65y" "0" "" "" "white" "09837826-IV.6"
"00210062" "" "" "" "1" "" "00006" "{PMID:Feit 1998:9837826}" "from large family" "M" "" "United States" ">50y" "0" "" "" "white" "09837826-IV.12"
"00210063" "" "" "" "1" "" "00006" "{PMID:Feit 1998:9837826}" "from large family" "M" "" "United States" ">60y" "0" "" "" "white" "09837826-IV.52"
"00210064" "" "" "" "1" "" "00006" "{PMID:Feit 1998:9837826}" "from large family" "F" "" "United States" ">72y" "0" "" "" "white" "09837826-IV.38"
"00210065" "" "" "" "1" "" "00006" "{PMID:Feit 1998:9837826}" "from large family" "M" "" "United States" ">51y" "0" "" "" "white" "09837826-V.12"
"00210066" "" "" "" "1" "" "00006" "{PMID:Feit 1998:9837826}" "from large family" "M" "" "United States" ">42y" "0" "" "" "white" "09837826-V.13"
"00210067" "" "" "" "1" "" "00006" "{PMID:Feit 1998:9837826}" "from large family" "F" "" "United States" ">58y" "0" "" "" "white" "09837826-V.14"
"00210068" "" "" "" "1" "" "00006" "{PMID:Feit 1998:9837826}" "from large family" "M" "" "United States" ">52y" "0" "" "" "white" "09837826-V.17"
"00210069" "" "" "" "1" "" "00006" "{PMID:Feit 1998:9837826}" "from large family" "M" "" "United States" ">50y" "0" "" "" "white" "09837826-V.18"
"00210070" "" "" "" "1" "" "00006" "{PMID:Feit 1998:9837826}" "from large family" "F" "" "United States" ">47y" "0" "" "" "white" "09837826-V.19"
"00210071" "" "" "" "1" "" "00006" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "" "United States" "" "0" "" "" "white" "19344878-DM73.3"
"00210072" "" "" "" "1" "" "00006" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "" "United States" "" "0" "" "" "white" "19344878-DM73.4"
"00210073" "" "" "" "9" "" "00006" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "7-generation family, 19 affecteds" "" "" "Bulgaria" "" "0" "" "" "" "19344878-FamBG"
"00210074" "" "" "" "1" "" "00006" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "" "Bulgaria" "" "0" "" "" "" "19344878-IV.9"
"00210075" "" "" "" "1" "" "00006" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "" "Bulgaria" "" "0" "" "" "" "19344878-V.6"
"00210076" "" "" "" "1" "" "00006" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "" "Bulgaria" "" "0" "" "" "" "19344878-V.9"
"00210077" "" "" "" "1" "" "00006" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "" "Bulgaria" "" "0" "" "" "" "19344878-V.11"
"00210078" "" "" "" "1" "" "00006" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "" "Bulgaria" "" "0" "" "" "" "19344878-V.13"
"00210079" "" "" "" "1" "" "00006" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "" "Bulgaria" "" "0" "" "" "" "19344878-V.15"
"00210080" "" "" "" "1" "" "00006" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "" "Bulgaria" "" "0" "" "" "" "19344878-V.17"
"00210081" "" "" "" "1" "" "00006" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "" "Bulgaria" "" "0" "" "" "" "19344878-V.23"
"00210082" "" "" "" "1" "" "00006" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "" "Bulgaria" "" "0" "" "" "" "19344878-V.27"
"00210083" "" "" "" "1" "" "00006" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "" "Bulgaria" "" "0" "" "" "" "19344878-V.30"
"00293760" "" "" "" "53" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00295747" "" "" "" "1" "" "01164" "" "" "?" "" "" "" "0" "" "" "" ""
"00305014" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00314363" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 34
"{{individualid}}" "{{diseaseid}}"
"00050575" "00198"
"00151565" "04255"
"00151567" "04255"
"00151568" "04255"
"00210058" "04255"
"00210059" "04255"
"00210060" "04255"
"00210061" "04255"
"00210062" "04255"
"00210063" "04255"
"00210064" "04255"
"00210065" "04255"
"00210066" "04255"
"00210067" "04255"
"00210068" "04255"
"00210069" "04255"
"00210070" "04255"
"00210071" "04255"
"00210072" "04255"
"00210073" "04255"
"00210074" "04255"
"00210075" "04255"
"00210076" "04255"
"00210077" "04255"
"00210078" "04255"
"00210079" "04255"
"00210080" "04255"
"00210081" "04255"
"00210082" "04255"
"00210083" "04255"
"00293760" "00198"
"00295747" "00198"
"00305014" "00198"
"00314363" "05126"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 02574, 04255, 05126
## Count = 28
"{{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}}"
"0000037187" "00198" "00050575" "00006" "Isolated (sporadic)" "" "intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" ""
"0000158632" "04255" "00210058" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "ALS-21" "distal myopathy" ""
"0000158633" "04255" "00210059" "00006" "Familial, autosomal dominant" "" "weakness leg L>R, R hand R=L, shoulder R>L; EMG-myopathy, nerve conduction velocity normal, rimmed vacuoles, central nuclei; raised CPK level (HP:0003236) 2x" "45y" "" "" "" "" "" "" "" "ALS-21" "distal myopathy" ""
"0000158634" "04255" "00210060" "00006" "Familial, autosomal dominant" "" "weakness hand R>L, leg R=L, shoulder >L; no raised CPK level (-HP:0003236) normal" "44y" "" "" "" "" "" "" "" "ALS-21" "distal myopathy" ""
"0000158635" "04255" "00210061" "00006" "Familial, autosomal dominant" "" "weakness leg L>R; EMG-distal denervation, nerve conduction velocity normal, rimmed vacuoles, atrophy; no raised CPK level (-HP:0003236) normal" "57y" "" "" "" "" "" "" "" "ALS-21" "distal myopathy" ""
"0000158636" "04255" "00210062" "00006" "Familial, autosomal dominant" "" "weakness leg R>L, hand R>L; CPK level 1.3x" "45y" "" "" "" "" "" "" "" "ALS-21" "distal myopathy" ""
"0000158637" "04255" "00210063" "00006" "Familial, autosomal dominant" "" "weakness leg R>L, hand L>R; EMG-neuropathy, nerve conduction velocity slow, ; raised CPK level (HP:0003236) 2x" "48y" "" "" "" "" "" "" "" "ALS-21" "distal myopathy" ""
"0000158638" "04255" "00210064" "00006" "Familial, autosomal dominant" "" "weakness hands, legs, shoulder R>L; EMG-myopathy, nerve conduction velocity borderline slow, end-stage myopathy; no raised CPK level (-HP:0003236) normal" "54y" "" "" "" "" "" "" "" "ALS-21" "distal myopathy" ""
"0000158639" "04255" "00210065" "00006" "Familial, autosomal dominant" "" "weakness legs, hand R=L; EMG-myopathy, nerve conduction velocity slow, rimmed vacuoles, thin myelin; raised CPK level (HP:0003236) 2x" "40y" "" "" "" "" "" "" "" "ALS-21" "distal myopathy" ""
"0000158640" "04255" "00210066" "00006" "Familial, autosomal dominant" "" "weakness legs R=L, hand R; EMG-neuropathy, rimmed vacuoles, central nuclei; raised CPK level (HP:0003236) 2x" "41y" "" "" "" "" "" "" "" "ALS-21" "distal myopathy" ""
"0000158641" "04255" "00210067" "00006" "Familial, autosomal dominant" "" "weakness hands = legs; EMG-myopathy, nerve conduction velocity normal, rimmed vacuoles, central nuclei" "52y" "" "" "" "" "" "" "" "ALS-21" "distal myopathy" ""
"0000158642" "04255" "00210068" "00006" "Familial, autosomal dominant" "" "weakness leg L>R, hand R=L, shoulder R=L; raised CPK level (HP:0003236) 2x" "35y" "" "" "" "" "" "" "" "ALS-21" "distal myopathy" ""
"0000158643" "04255" "00210069" "00006" "Familial, autosomal dominant" "" "weakness legs R>L; raised CPK level (HP:0003236) 8x" "35y" "" "" "" "" "" "" "" "ALS-21" "distal myopathy" ""
"0000158644" "04255" "00210070" "00006" "Familial, autosomal dominant" "" "weakness hands, legs; no raised CPK level (-HP:0003236) normal" "47y" "" "" "" "" "" "" "" "ALS-21" "distal myopathy" ""
"0000158645" "04255" "00210071" "00006" "Familial, autosomal dominant" "" "weakness hands, legs; no swallowing dysfunction; raised CPK level (HP:0003236) 2×" "48y" "" "weakness legs" "" "" "" "" "" "ALS-21" "distal myopathy" ""
"0000158646" "04255" "00210072" "00006" "Familial, autosomal dominant" "" "weakness hands, legs; swallowing dysfunction; raised CPK level (HP:0003236) 2×" "45y" "" "weakness legs" "" "" "" "" "" "ALS-21" "distal myopathy" ""
"0000158647" "04255" "00210073" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "ALS-21" "distal myopathy" ""
"0000158648" "04255" "00210074" "00006" "Familial, autosomal dominant" "" "weakness hands, legs; no swallowing dysfunction" "43y" "" "weakness legs" "" "" "" "" "" "ALS-21" "distal myopathy" ""
"0000158649" "04255" "00210075" "00006" "Familial, autosomal dominant" "" "weakness hands, legs, shoulders; swallowing dysfunction" "47y" "" "weakness legs" "" "" "" "" "" "ALS-21" "distal myopathy" ""
"0000158650" "04255" "00210076" "00006" "Familial, autosomal dominant" "" "weakness hands, legs, shoulders; swallowing dysfunction; raised CPK level (HP:0003236) 2×" "40y" "" "weakness legs" "" "" "" "" "" "ALS-21" "distal myopathy" ""
"0000158651" "04255" "00210077" "00006" "Familial, autosomal dominant" "" "weakness hands, legs" "54y" "" "weakness legs" "" "" "" "" "" "ALS-21" "distal myopathy" ""
"0000158652" "04255" "00210078" "00006" "Familial, autosomal dominant" "" "weakness hands, legs" "52y" "" "weakness legs" "" "" "" "" "" "ALS-21" "distal myopathy" ""
"0000158653" "04255" "00210079" "00006" "Familial, autosomal dominant" "" "weakness legs" "42y" "" "weakness legs" "" "" "" "" "" "ALS-21" "distal myopathy" ""
"0000158654" "04255" "00210080" "00006" "Familial, autosomal dominant" "" "weakness hands" "46y" "" "weakness hands" "" "" "" "" "" "ALS-21" "distal myopathy" ""
"0000158655" "04255" "00210081" "00006" "Familial, autosomal dominant" "" "weakness hands, legs, shoulders; no swallowing dysfunction; raised CPK level (HP:0003236) 4×" "49y" "" "weakness legs" "" "" "" "" "" "ALS-21" "distal myopathy" ""
"0000158656" "04255" "00210082" "00006" "Familial, autosomal dominant" "" "weakness hands, legs, shoulders; swallowing dysfunction; raised CPK level (HP:0003236) 3×" "40y" "" "weakness legs" "" "" "" "" "" "ALS-21" "distal myopathy" ""
"0000158657" "04255" "00210083" "00006" "Familial, autosomal dominant" "" "weakness legs; raised CPK level (HP:0003236) 2×" "36y" "" "" "" "" "" "" "" "ALS-21" "distal myopathy" ""
"0000223265" "00198" "00295747" "01164" "Unknown" "" "Abnormal insertion of umbilical cord (HP:0011418); Abnormality of prenatal development or birth (HP:0001197); Bilateral talipes equinovarus (HP:0001776)" "" "" "" "" "" "" "" "" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 34
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000050520" "00050575" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000152420" "00151565" "1" "00006" "00006" "2018-01-20 16:15:23" "" "" "SEQ" "DNA" "" ""
"0000152422" "00151567" "1" "00006" "00006" "2018-01-20 16:20:06" "" "" "SEQ" "DNA" "" ""
"0000152423" "00151568" "1" "00006" "00006" "2018-01-20 16:23:04" "" "" "SEQ" "DNA" "" ""
"0000211134" "00210058" "1" "00006" "00006" "2010-03-21 20:03:23" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" ""
"0000211135" "00210059" "1" "00006" "00006" "2010-03-21 20:03:23" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000211136" "00210060" "1" "00006" "00006" "2010-03-21 20:03:23" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000211137" "00210061" "1" "00006" "00006" "2010-03-21 20:03:23" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000211138" "00210062" "1" "00006" "00006" "2010-03-21 20:03:23" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000211139" "00210063" "1" "00006" "00006" "2010-03-21 20:03:23" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000211140" "00210064" "1" "00006" "00006" "2010-03-21 20:03:23" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000211141" "00210065" "1" "00006" "00006" "2010-03-21 20:03:23" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000211142" "00210066" "1" "00006" "00006" "2010-03-21 20:03:23" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000211143" "00210067" "1" "00006" "00006" "2010-03-21 20:03:23" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000211144" "00210068" "1" "00006" "00006" "2010-03-21 20:03:23" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000211145" "00210069" "1" "00006" "00006" "2010-03-21 20:03:23" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000211146" "00210070" "1" "00006" "00006" "2010-03-21 20:03:23" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000211147" "00210071" "1" "00006" "00006" "2010-03-21 20:03:23" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000211148" "00210072" "1" "00006" "00006" "2010-03-21 20:03:23" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000211149" "00210073" "1" "00006" "00006" "2010-03-21 20:03:23" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" ""
"0000211150" "00210074" "1" "00006" "00006" "2010-03-21 20:03:23" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000211151" "00210075" "1" "00006" "00006" "2010-03-21 20:03:23" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000211152" "00210076" "1" "00006" "00006" "2010-03-21 20:03:23" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000211153" "00210077" "1" "00006" "00006" "2010-03-21 20:03:23" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000211154" "00210078" "1" "00006" "00006" "2010-03-21 20:03:23" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000211155" "00210079" "1" "00006" "00006" "2010-03-21 20:03:23" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000211156" "00210080" "1" "00006" "00006" "2010-03-21 20:03:23" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000211157" "00210081" "1" "00006" "00006" "2010-03-21 20:03:23" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000211158" "00210082" "1" "00006" "00006" "2010-03-21 20:03:23" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000211159" "00210083" "1" "00006" "00006" "2010-03-21 20:03:23" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000294928" "00293760" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000296920" "00295747" "1" "01164" "01164" "2020-03-26 12:30:01" "" "" "SEQ-NG-S" "DNA" "" ""
"0000306143" "00305014" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000315536" "00314363" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 30
"{{screeningid}}" "{{geneid}}"
"0000152420" "MATR3"
"0000152422" "MATR3"
"0000152423" "MATR3"
"0000211134" "MATR3"
"0000211135" "MATR3"
"0000211136" "MATR3"
"0000211137" "MATR3"
"0000211138" "MATR3"
"0000211139" "MATR3"
"0000211140" "MATR3"
"0000211141" "MATR3"
"0000211142" "MATR3"
"0000211143" "MATR3"
"0000211144" "MATR3"
"0000211145" "MATR3"
"0000211146" "MATR3"
"0000211147" "MATR3"
"0000211148" "MATR3"
"0000211149" "MATR3"
"0000211150" "MATR3"
"0000211151" "MATR3"
"0000211152" "MATR3"
"0000211153" "MATR3"
"0000211154" "MATR3"
"0000211155" "MATR3"
"0000211156" "MATR3"
"0000211157" "MATR3"
"0000211158" "MATR3"
"0000211159" "MATR3"
"0000315536" "MATR3"
## 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 = 77
"{{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}}"
"0000079500" "0" "90" "5" "123828524" "145717285" "dup" "0" "00006" "SIL1_000024" "g.123828524_145717285dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.38 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" ""
"0000246363" "0" "10" "5" "138655196" "138655196" "subst" "0.0141674" "02330" "MATR3_000029" "g.138655196A>G" "" "" "" "MATR3(NM_199189.3):c.1602+6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139319507A>G" "" "benign" ""
"0000254832" "0" "30" "5" "138661340" "138661340" "subst" "0.000296577" "01943" "MATR3_000007" "g.138661340A>G" "" "" "" "MATR3(NM_018834.6):c.2360A>G (p.(Asn787Ser)), MATR3(NM_199189.2):c.2360A>G (p.N787S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139325651A>G" "" "likely benign" ""
"0000256198" "0" "50" "5" "138665047" "138665047" "subst" "4.07186E-6" "01943" "MATR3_000041" "g.138665047A>C" "" "" "" "MATR3(NM_199189.2):c.2507A>C (p.K836T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139329358A>C" "" "VUS" ""
"0000291550" "0" "50" "5" "138611841" "138611841" "subst" "9.24713E-5" "01943" "MATR3_000045" "g.138611841T>A" "" "" "" "MATR3(NM_001194954.2):c.-257+2T>A, MATR3(NM_199189.2):c.-339+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139276152T>A" "" "VUS" ""
"0000291551" "0" "50" "5" "138652737" "138652737" "subst" "6.90838E-5" "01943" "MATR3_000026" "g.138652737T>A" "" "" "" "MATR3(NM_199189.2):c.1130-5T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139317048T>A" "" "VUS" ""
"0000291552" "0" "30" "5" "138652744" "138652744" "subst" "0.000138165" "01943" "MATR3_000027" "g.138652744G>A" "" "" "" "MATR3(NM_199189.2):c.1132G>A (p.A378T), MATR3(NM_199189.3):c.1132G>A (p.A378T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139317055G>A" "" "likely benign" ""
"0000291554" "0" "30" "5" "138658401" "138658401" "subst" "0.000553133" "01943" "MATR3_000030" "g.138658401C>T" "" "" "" "MATR3(NM_199189.2):c.1893C>T (p.S631=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139322712C>T" "" "likely benign" ""
"0000291555" "0" "30" "5" "138658452" "138658452" "subst" "0" "01943" "MATR3_000031" "g.138658452T>G" "" "" "" "MATR3(NM_199189.2):c.1944_1945delTAinsGA (p.P648_N649=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139322763T>G" "" "likely benign" ""
"0000291561" "0" "30" "5" "138661170" "138661170" "subst" "2.03057E-5" "01943" "MATR3_000040" "g.138661170G>A" "" "" "" "MATR3(NM_199189.2):c.2190G>A (p.A730=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139325481G>A" "" "likely benign" ""
"0000291563" "0" "50" "5" "138665061" "138665061" "subst" "0.000130294" "01943" "MATR3_000042" "g.138665061C>T" "" "" "" "MATR3(NM_199189.2):c.2521C>T (p.R841C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139329372C>T" "" "VUS" ""
"0000291564" "0" "50" "5" "138665065" "138665065" "subst" "9.76992E-5" "01943" "MATR3_000043" "g.138665065G>C" "" "" "" "MATR3(NM_199189.2):c.2525G>C (p.R842T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139329376G>C" "" "VUS" ""
"0000330543" "0" "50" "5" "138658658" "138658659" "ins" "0" "01804" "MATR3_000038" "g.138658658_138658659insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAA" "" "" "" "MATR3(NM_001194954.1):c.2148+2_2148+3insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAA (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139322969_139322970insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAA" "" "VUS" ""
"0000330544" "0" "30" "5" "138658658" "138658659" "ins" "1.63297E-5" "01804" "MATR3_000039" "g.138658658_138658659insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA" "" "" "" "MATR3(NM_001194954.1):c.2148+2_2148+3insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA (p.?), MATR3(NM_199189.3):c.2148+2_2148+..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139322969_139322970insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA" "" "likely benign" ""
"0000336577" "0" "30" "5" "138643369" "138643369" "subst" "0.000166598" "00006" "MATR3_000005" "g.138643369A>G" "1/207 cases ALS, 3/1000 control chromosomes" "{PMID:Lin 2015:25771394}, {DOI:Lin 2015:10.1016/j.neurobiolaging.2015.02.008}" "" "" "" "Germline" "" "" "0" "" "" "g.139307680A>G" "" "likely benign" ""
"0000336579" "0" "30" "5" "138658499" "138658499" "subst" "0.000284262" "00006" "MATR3_000006" "g.138658499A>C" "1/207 cases ALS" "{PMID:Lin 2015:25771394}, {DOI:Lin 2015:10.1016/j.neurobiolaging.2015.02.008}" "" "" "" "Germline" "" "rs139589527" "0" "" "" "g.139322810A>C" "" "likely benign" ""
"0000336580" "0" "30" "5" "138661340" "138661340" "subst" "0.000296577" "00006" "MATR3_000007" "g.138661340A>G" "1/207 cases ALS" "{PMID:Lin 2015:25771394}, {DOI:Lin 2015:10.1016/j.neurobiolaging.2015.02.008}" "" "" "" "Germline" "" "rs148402819" "0" "" "" "g.139325651A>G" "" "likely benign" ""
"0000442571" "1" "90" "5" "138643358" "138643358" "subst" "0" "00006" "MATR3_000001" "g.138643358C>G" "" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "mapped by linkage" "Germline" "" "" "0" "" "" "g.139307669C>G" "" "pathogenic" ""
"0000442572" "1" "10" "5" "138647829" "138647829" "subst" "0" "00006" "MATR3_000002" "g.138647829G>A" "" "{PMID:Senderek 2009:19344878}" "" "" "" "Germline" "" "rs12186596" "0" "" "" "g.139312140G>A" "" "benign" ""
"0000442573" "1" "90" "5" "138643358" "138643358" "subst" "0" "00006" "MATR3_000001" "g.138643358C>G" "" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "not in 928 control chromosomes" "Germline" "" "" "0" "" "" "g.139307669C>G" "" "pathogenic" ""
"0000442574" "1" "90" "5" "138643358" "138643358" "subst" "0" "00006" "MATR3_000001" "g.138643358C>G" "" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "not in 928 control chromosomes" "Germline" "" "" "0" "" "" "g.139307669C>G" "" "pathogenic" ""
"0000442575" "1" "90" "5" "138643358" "138643358" "subst" "0" "00006" "MATR3_000001" "g.138643358C>G" "" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "not in 928 control chromosomes" "Germline" "" "" "0" "" "" "g.139307669C>G" "" "pathogenic" ""
"0000442576" "1" "90" "5" "138643358" "138643358" "subst" "0" "00006" "MATR3_000001" "g.138643358C>G" "" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "not in 928 control chromosomes" "Germline" "" "" "0" "" "" "g.139307669C>G" "" "pathogenic" ""
"0000442577" "1" "90" "5" "138643358" "138643358" "subst" "0" "00006" "MATR3_000001" "g.138643358C>G" "" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "not in 928 control chromosomes" "Germline" "" "" "0" "" "" "g.139307669C>G" "" "pathogenic" ""
"0000442578" "1" "90" "5" "138643358" "138643358" "subst" "0" "00006" "MATR3_000001" "g.138643358C>G" "" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "not in 928 control chromosomes" "Germline" "" "" "0" "" "" "g.139307669C>G" "" "pathogenic" ""
"0000442579" "1" "90" "5" "138643358" "138643358" "subst" "0" "00006" "MATR3_000001" "g.138643358C>G" "" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "not in 928 control chromosomes" "Germline" "" "" "0" "" "" "g.139307669C>G" "" "pathogenic" ""
"0000442580" "1" "90" "5" "138643358" "138643358" "subst" "0" "00006" "MATR3_000001" "g.138643358C>G" "" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "not in 928 control chromosomes" "Germline" "" "" "0" "" "" "g.139307669C>G" "" "pathogenic" ""
"0000442581" "1" "90" "5" "138643358" "138643358" "subst" "0" "00006" "MATR3_000001" "g.138643358C>G" "" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "not in 928 control chromosomes" "Germline" "" "" "0" "" "" "g.139307669C>G" "" "pathogenic" ""
"0000442582" "1" "90" "5" "138643358" "138643358" "subst" "0" "00006" "MATR3_000001" "g.138643358C>G" "" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "not in 928 control chromosomes" "Germline" "" "" "0" "" "" "g.139307669C>G" "" "pathogenic" ""
"0000442583" "1" "90" "5" "138643358" "138643358" "subst" "0" "00006" "MATR3_000001" "g.138643358C>G" "" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "not in 928 control chromosomes" "Germline" "" "" "0" "" "" "g.139307669C>G" "" "pathogenic" ""
"0000442584" "1" "90" "5" "138643358" "138643358" "subst" "0" "00006" "MATR3_000001" "g.138643358C>G" "" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "not in 928 control chromosomes" "Germline" "" "" "0" "" "" "g.139307669C>G" "" "pathogenic" ""
"0000442585" "1" "90" "5" "138643358" "138643358" "subst" "0" "00006" "MATR3_000001" "g.138643358C>G" "" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "not in 928 control chromosomes" "Germline" "" "" "0" "" "" "g.139307669C>G" "" "pathogenic" ""
"0000442586" "1" "90" "5" "138643358" "138643358" "subst" "0" "00006" "MATR3_000001" "g.138643358C>G" "" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "not in 928 control chromosomes" "Germline" "" "" "0" "" "" "g.139307669C>G" "" "pathogenic" ""
"0000442587" "1" "90" "5" "138643358" "138643358" "subst" "0" "00006" "MATR3_000001" "g.138643358C>G" "" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "not in 216 control chromosomes" "Germline" "" "" "0" "" "" "g.139307669C>G" "" "pathogenic" ""
"0000442588" "1" "10" "5" "138647829" "138647829" "subst" "0" "00006" "MATR3_000002" "g.138647829G>A" "" "{PMID:Senderek 2009:19344878}" "" "" "" "Germline" "" "rs12186596" "0" "" "" "g.139312140G>A" "" "benign" ""
"0000442589" "1" "10" "5" "138647766" "138647766" "subst" "0" "00006" "MATR3_000003" "g.138647766T>C" "" "{PMID:Senderek 2009:19344878}" "" "" "" "Germline" "" "rs13178336" "0" "" "" "g.139312077T>C" "" "benign" ""
"0000442590" "1" "90" "5" "138643358" "138643358" "subst" "0" "00006" "MATR3_000001" "g.138643358C>G" "" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "not in 216 control chromosomes" "Germline" "" "" "0" "" "" "g.139307669C>G" "" "pathogenic" ""
"0000442591" "1" "90" "5" "138643358" "138643358" "subst" "0" "00006" "MATR3_000001" "g.138643358C>G" "" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "not in 216 control chromosomes" "Germline" "" "" "0" "" "" "g.139307669C>G" "" "pathogenic" ""
"0000442592" "1" "90" "5" "138643358" "138643358" "subst" "0" "00006" "MATR3_000001" "g.138643358C>G" "" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "not in 216 control chromosomes" "Germline" "" "" "0" "" "" "g.139307669C>G" "" "pathogenic" ""
"0000442593" "1" "90" "5" "138643358" "138643358" "subst" "0" "00006" "MATR3_000001" "g.138643358C>G" "" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "not in 216 control chromosomes" "Germline" "" "" "0" "" "" "g.139307669C>G" "" "pathogenic" ""
"0000442594" "1" "90" "5" "138643358" "138643358" "subst" "0" "00006" "MATR3_000001" "g.138643358C>G" "" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "not in 216 control chromosomes" "Germline" "" "" "0" "" "" "g.139307669C>G" "" "pathogenic" ""
"0000442595" "1" "90" "5" "138643358" "138643358" "subst" "0" "00006" "MATR3_000001" "g.138643358C>G" "" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "not in 216 control chromosomes" "Germline" "" "" "0" "" "" "g.139307669C>G" "" "pathogenic" ""
"0000442596" "1" "90" "5" "138643358" "138643358" "subst" "0" "00006" "MATR3_000001" "g.138643358C>G" "" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "not in 216 control chromosomes" "Germline" "" "" "0" "" "" "g.139307669C>G" "" "pathogenic" ""
"0000442597" "1" "90" "5" "138643358" "138643358" "subst" "0" "00006" "MATR3_000001" "g.138643358C>G" "" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "not in 216 control chromosomes" "Germline" "" "" "0" "" "" "g.139307669C>G" "" "pathogenic" ""
"0000442598" "1" "90" "5" "138643358" "138643358" "subst" "0" "00006" "MATR3_000001" "g.138643358C>G" "" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "not in 216 control chromosomes" "Germline" "" "" "0" "" "" "g.139307669C>G" "" "pathogenic" ""
"0000442599" "1" "90" "5" "138643358" "138643358" "subst" "0" "00006" "MATR3_000001" "g.138643358C>G" "" "{PMID:Senderek 2009:19344878}, {OMIM164015:0001}" "" "" "not in 216 control chromosomes" "Germline" "" "" "0" "" "" "g.139307669C>G" "" "pathogenic" ""
"0000524362" "0" "30" "5" "138651379" "138651379" "subst" "0" "01943" "MATR3_000046" "g.138651379T>C" "" "" "" "MATR3(NM_199189.2):c.975-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139315690T>C" "" "likely benign" ""
"0000524363" "0" "30" "5" "138653280" "138653280" "subst" "0.000252112" "01804" "MATR3_000047" "g.138653280G>A" "" "" "" "MATR3(NM_001194954.1):c.1183-5G>A (p.?), MATR3(NM_199189.2):c.1183-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139317591G>A" "" "likely benign" ""
"0000524365" "0" "30" "5" "138657639" "138657639" "subst" "0" "02326" "MATR3_000048" "g.138657639G>T" "" "" "" "MATR3(NM_199189.2):c.1655G>T (p.C552F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139321950G>T" "" "likely benign" ""
"0000524368" "0" "50" "5" "138658499" "138658499" "subst" "0.000284262" "01943" "MATR3_000006" "g.138658499A>C" "" "" "" "MATR3(NM_199189.2):c.1991A>C (p.E664A), MATR3(NM_199189.3):c.1991A>C (p.E664A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139322810A>C" "" "VUS" ""
"0000524370" "0" "30" "5" "138658658" "138658659" "ins" "1.63297E-5" "02330" "MATR3_000039" "g.138658658_138658659insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA" "" "" "" "MATR3(NM_001194954.1):c.2148+2_2148+3insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA (p.?), MATR3(NM_199189.3):c.2148+2_2148+..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139322969_139322970insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA" "" "likely benign" ""
"0000524374" "0" "30" "5" "138661880" "138661880" "subst" "0" "01943" "MATR3_000053" "g.138661880G>A" "" "" "" "MATR3(NM_199189.2):c.2400G>A (p.G800=), MATR3(NM_199189.3):c.2400G>A (p.G800=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139326191G>A" "" "likely benign" ""
"0000651617" "1" "30" "5" "138655196" "138655196" "subst" "0.0141674" "03575" "MATR3_000029" "g.138655196A>G" "53/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "53 heterozygous; {DB:CLININrs80036770}" "Germline" "" "rs80036770" "0" "" "" "g.139319507A>G" "" "likely benign" ""
"0000655297" "0" "30" "5" "138643851" "138643851" "subst" "4.0653E-6" "01943" "MATR3_000056" "g.138643851G>A" "" "" "" "MATR3(NM_199189.2):c.747G>A (p.E249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139308162G>A" "" "likely benign" ""
"0000655298" "0" "30" "5" "138661253" "138661253" "subst" "1.62441E-5" "01943" "MATR3_000057" "g.138661253C>G" "" "" "" "MATR3(NM_199189.2):c.2273C>G (p.T758R), MATR3(NM_199189.3):c.2273C>G (p.T758R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139325564C>G" "" "likely benign" ""
"0000655299" "0" "50" "5" "138665044" "138665044" "subst" "0.000138471" "01804" "MATR3_000058" "g.138665044A>G" "" "" "" "MATR3(NM_001194954.1):c.2504A>G (p.(Asn835Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139329355A>G" "" "VUS" ""
"0000659571" "0" "50" "5" "138658555" "138658555" "subst" "0" "01164" "MATR3_000055" "g.138658555A>G" "" "" "" "" "OMIM adult onset -> passt klinisch nicht!!! RS Abia: nicht in Befund" "Germline" "" "" "0" "" "" "g.139322866A>G" "" "VUS" "ACMG"
"0000669831" "3" "30" "5" "138655196" "138655196" "subst" "0.0141674" "03575" "MATR3_000029" "g.138655196A>G" "3/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs80036770}" "Germline" "" "rs80036770" "0" "" "" "g.139319507A>G" "" "likely benign" ""
"0000689438" "0" "30" "5" "138661171" "138661171" "subst" "0.000775641" "01943" "MATR3_000059" "g.138661171T>C" "" "" "" "MATR3(NM_199189.2):c.2191T>C (p.L731=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000689439" "0" "30" "5" "138661230" "138661230" "subst" "1.62458E-5" "01943" "MATR3_000060" "g.138661230C>T" "" "" "" "MATR3(NM_199189.2):c.2250C>T (p.N750=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000697625" "0" "70" "5" "138611841" "138611841" "subst" "9.24713E-5" "00006" "MATR3_000045" "g.138611841T>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.139276152T>A" "" "likely pathogenic" ""
"0000720209" "0" "90" "5" "138643358" "138643358" "subst" "0" "02329" "MATR3_000001" "g.138643358C>G" "" "" "" "MATR3(NM_199189.3):c.254C>G (p.S85C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000720210" "0" "50" "5" "138661253" "138661253" "subst" "1.62441E-5" "02329" "MATR3_000057" "g.138661253C>G" "" "" "" "MATR3(NM_199189.2):c.2273C>G (p.T758R), MATR3(NM_199189.3):c.2273C>G (p.T758R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000720211" "0" "50" "5" "138661880" "138661880" "subst" "0" "02329" "MATR3_000053" "g.138661880G>A" "" "" "" "MATR3(NM_199189.2):c.2400G>A (p.G800=), MATR3(NM_199189.3):c.2400G>A (p.G800=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000850796" "0" "30" "5" "138629702" "138629702" "subst" "0" "01943" "MATR3_000061" "g.138629702T>G" "" "" "" "MATR3(NM_001194956.1):c.33T>G (p.P11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000850797" "0" "30" "5" "138658658" "138658659" "ins" "0.000330677" "02325" "MATR3_000062" "g.138658658_138658659insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGA" "" "" "" "MATR3(NM_199189.3):c.2148+2_2148+3ins45" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000859773" "0" "30" "5" "138658401" "138658401" "subst" "0.000553133" "02326" "MATR3_000030" "g.138658401C>T" "" "" "" "MATR3(NM_199189.2):c.1893C>T (p.S631=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000912241" "0" "50" "5" "138643975" "138643975" "subst" "0" "02325" "MATR3_000063" "g.138643975C>A" "" "" "" "MATR3(NM_199189.3):c.871C>A (p.H291N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000912242" "0" "30" "5" "138653280" "138653280" "subst" "0.000252112" "02326" "MATR3_000047" "g.138653280G>A" "" "" "" "MATR3(NM_001194954.1):c.1183-5G>A (p.?), MATR3(NM_199189.2):c.1183-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000929020" "0" "30" "5" "138658499" "138658499" "subst" "0.000284262" "02325" "MATR3_000006" "g.138658499A>C" "" "" "" "MATR3(NM_199189.2):c.1991A>C (p.E664A), MATR3(NM_199189.3):c.1991A>C (p.E664A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000948491" "0" "50" "5" "138652744" "138652744" "subst" "0.000138165" "02325" "MATR3_000027" "g.138652744G>A" "" "" "" "MATR3(NM_199189.2):c.1132G>A (p.A378T), MATR3(NM_199189.3):c.1132G>A (p.A378T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000976583" "0" "50" "5" "138643160" "138643160" "subst" "8.14054E-6" "01804" "MATR3_000064" "g.138643160G>A" "" "" "" "MATR3(NM_018834.6):c.56G>A (p.(Arg19His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000976584" "0" "50" "5" "138643222" "138643222" "subst" "0" "01804" "MATR3_000065" "g.138643222G>C" "" "" "" "MATR3(NM_018834.6):c.118G>C (p.(Ala40Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000994684" "0" "50" "5" "138661870" "138661870" "subst" "0" "01804" "MATR3_000066" "g.138661870C>T" "" "" "" "MATR3(NM_018834.5):c.2390C>T (p.(Pro797Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001034923" "0" "50" "5" "138611841" "138611841" "subst" "9.24713E-5" "01804" "MATR3_000045" "g.138611841T>A" "" "" "" "MATR3(NM_001194954.2):c.-257+2T>A, MATR3(NM_199189.2):c.-339+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001034926" "0" "50" "5" "138658658" "138658659" "ins" "0" "01804" "MATR3_000067" "g.138658658_138658659insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGAAAACACAGAACCAGGTGCTGAATCTTCTGAGAACGCTGATGATCCCAAC" "" "" "" "MATR3(NM_018834.6):c.2148+2_2148+3insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGAAAACACAGAACCAGGTGCTGAATCTTCTGAGAACGCTGATGATC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001034927" "0" "10" "5" "138661340" "138661340" "subst" "0.000296577" "01804" "MATR3_000007" "g.138661340A>G" "" "" "" "MATR3(NM_018834.6):c.2360A>G (p.(Asn787Ser)), MATR3(NM_199189.2):c.2360A>G (p.N787S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
## 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 MATR3
## Count = 77
"{{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}}"
"0000079500" "00025354" "00" "-8388608" "0" "7054745" "0" "c.-14781695_*7052201dup" "r.0?" "p.0?" ""
"0000246363" "00025354" "10" "1602" "6" "1602" "6" "c.1602+6A>G" "r.(=)" "p.(=)" ""
"0000254832" "00025354" "30" "2360" "0" "2360" "0" "c.2360A>G" "r.(?)" "p.(Asn787Ser)" ""
"0000256198" "00025354" "50" "2507" "0" "2507" "0" "c.2507A>C" "r.(?)" "p.(Lys836Thr)" ""
"0000291550" "00025354" "50" "-339" "2" "-339" "2" "c.-339+2T>A" "r.spl?" "p.?" ""
"0000291551" "00025354" "50" "1130" "-5" "1130" "-5" "c.1130-5T>A" "r.spl?" "p.?" ""
"0000291552" "00025354" "30" "1132" "0" "1132" "0" "c.1132G>A" "r.(?)" "p.(Ala378Thr)" ""
"0000291554" "00025354" "30" "1893" "0" "1893" "0" "c.1893C>T" "r.(?)" "p.(Ser631=)" ""
"0000291555" "00025354" "30" "1944" "0" "1944" "0" "c.1944T>G" "r.(?)" "p.(Pro648=)" ""
"0000291561" "00025354" "30" "2190" "0" "2190" "0" "c.2190G>A" "r.(?)" "p.(Ala730=)" ""
"0000291563" "00025354" "50" "2521" "0" "2521" "0" "c.2521C>T" "r.(?)" "p.(Arg841Cys)" ""
"0000291564" "00025354" "50" "2525" "0" "2525" "0" "c.2525G>C" "r.(?)" "p.(Arg842Thr)" ""
"0000330543" "00025354" "50" "2148" "2" "2148" "3" "c.2148+2_2148+3insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAA" "r.spl?" "p.?" ""
"0000330544" "00025354" "30" "2148" "2" "2148" "3" "c.2148+2_2148+3insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA" "r.spl?" "p.?" ""
"0000336577" "00025354" "30" "265" "0" "265" "0" "c.265A>G" "r.(?)" "p.(Ile89Val)" ""
"0000336579" "00025354" "30" "1991" "0" "1991" "0" "c.1991A>C" "r.(?)" "p.(Glu664Ala)" ""
"0000336580" "00025354" "30" "2360" "0" "2360" "0" "c.2360A>G" "r.(?)" "p.(Asn787Ser)" ""
"0000442571" "00025354" "90" "254" "0" "254" "0" "c.254C>G" "r.(?)" "p.(Ser85Cys)" "5"
"0000442572" "00025354" "10" "913" "-2535" "913" "-2535" "c.913-2535G>A" "r.(=)" "p.(=)" "5"
"0000442573" "00025354" "90" "254" "0" "254" "0" "c.254C>G" "r.(?)" "p.(Ser85Cys)" "5"
"0000442574" "00025354" "90" "254" "0" "254" "0" "c.254C>G" "r.(?)" "p.(Ser85Cys)" "5"
"0000442575" "00025354" "90" "254" "0" "254" "0" "c.254C>G" "r.(?)" "p.(Ser85Cys)" "5"
"0000442576" "00025354" "90" "254" "0" "254" "0" "c.254C>G" "r.(?)" "p.(Ser85Cys)" "5"
"0000442577" "00025354" "90" "254" "0" "254" "0" "c.254C>G" "r.(?)" "p.(Ser85Cys)" "5"
"0000442578" "00025354" "90" "254" "0" "254" "0" "c.254C>G" "r.(?)" "p.(Ser85Cys)" "5"
"0000442579" "00025354" "90" "254" "0" "254" "0" "c.254C>G" "r.(?)" "p.(Ser85Cys)" "5"
"0000442580" "00025354" "90" "254" "0" "254" "0" "c.254C>G" "r.(?)" "p.(Ser85Cys)" "5"
"0000442581" "00025354" "90" "254" "0" "254" "0" "c.254C>G" "r.(?)" "p.(Ser85Cys)" "5"
"0000442582" "00025354" "90" "254" "0" "254" "0" "c.254C>G" "r.(?)" "p.(Ser85Cys)" "5"
"0000442583" "00025354" "90" "254" "0" "254" "0" "c.254C>G" "r.(?)" "p.(Ser85Cys)" "5"
"0000442584" "00025354" "90" "254" "0" "254" "0" "c.254C>G" "r.(?)" "p.(Ser85Cys)" "5"
"0000442585" "00025354" "90" "254" "0" "254" "0" "c.254C>G" "r.(?)" "p.(Ser85Cys)" "5"
"0000442586" "00025354" "90" "254" "0" "254" "0" "c.254C>G" "r.(?)" "p.(Ser85Cys)" "5"
"0000442587" "00025354" "90" "254" "0" "254" "0" "c.254C>G" "r.(?)" "p.(Ser85Cys)" "5"
"0000442588" "00025354" "10" "913" "-2535" "913" "-2535" "c.913-2535G>A" "r.(=)" "p.(=)" "5i"
"0000442589" "00025354" "10" "913" "-2598" "913" "-2598" "c.913-2598T>C" "r.(=)" "p.(=)" "5i"
"0000442590" "00025354" "90" "254" "0" "254" "0" "c.254C>G" "r.(?)" "p.(Ser85Cys)" "5"
"0000442591" "00025354" "90" "254" "0" "254" "0" "c.254C>G" "r.(?)" "p.(Ser85Cys)" "5"
"0000442592" "00025354" "90" "254" "0" "254" "0" "c.254C>G" "r.(?)" "p.(Ser85Cys)" "5"
"0000442593" "00025354" "90" "254" "0" "254" "0" "c.254C>G" "r.(?)" "p.(Ser85Cys)" "5"
"0000442594" "00025354" "90" "254" "0" "254" "0" "c.254C>G" "r.(?)" "p.(Ser85Cys)" "5"
"0000442595" "00025354" "90" "254" "0" "254" "0" "c.254C>G" "r.(?)" "p.(Ser85Cys)" "5"
"0000442596" "00025354" "90" "254" "0" "254" "0" "c.254C>G" "r.(?)" "p.(Ser85Cys)" "5"
"0000442597" "00025354" "90" "254" "0" "254" "0" "c.254C>G" "r.(?)" "p.(Ser85Cys)" "5"
"0000442598" "00025354" "90" "254" "0" "254" "0" "c.254C>G" "r.(?)" "p.(Ser85Cys)" "5"
"0000442599" "00025354" "90" "254" "0" "254" "0" "c.254C>G" "r.(?)" "p.(Ser85Cys)" "5"
"0000524362" "00025354" "30" "975" "-7" "975" "-7" "c.975-7T>C" "r.(=)" "p.(=)" ""
"0000524363" "00025354" "30" "1183" "-5" "1183" "-5" "c.1183-5G>A" "r.spl?" "p.?" ""
"0000524365" "00025354" "30" "1655" "0" "1655" "0" "c.1655G>T" "r.(?)" "p.(Cys552Phe)" ""
"0000524368" "00025354" "50" "1991" "0" "1991" "0" "c.1991A>C" "r.(?)" "p.(Glu664Ala)" ""
"0000524370" "00025354" "30" "2148" "2" "2148" "3" "c.2148+2_2148+3insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA" "r.spl?" "p.?" ""
"0000524374" "00025354" "30" "2400" "0" "2400" "0" "c.2400G>A" "r.(?)" "p.(Gly800=)" ""
"0000651617" "00025354" "30" "1602" "6" "1602" "6" "c.1602+6A>G" "r.(=)" "p.(=)" ""
"0000655297" "00025354" "30" "747" "0" "747" "0" "c.747G>A" "r.(?)" "p.(Glu249=)" ""
"0000655298" "00025354" "30" "2273" "0" "2273" "0" "c.2273C>G" "r.(?)" "p.(Thr758Arg)" ""
"0000655299" "00025354" "50" "2504" "0" "2504" "0" "c.2504A>G" "r.(?)" "p.(Asn835Ser)" ""
"0000659571" "00025354" "50" "2047" "0" "2047" "0" "c.2047A>G" "r.(?)" "p.(Asn683Asp)" ""
"0000669831" "00025354" "30" "1602" "6" "1602" "6" "c.1602+6A>G" "r.(=)" "p.(=)" ""
"0000689438" "00025354" "30" "2191" "0" "2191" "0" "c.2191T>C" "r.(?)" "p.(Leu731=)" ""
"0000689439" "00025354" "30" "2250" "0" "2250" "0" "c.2250C>T" "r.(?)" "p.(Asn750=)" ""
"0000697625" "00025354" "70" "-339" "2" "-339" "2" "c.-339+2T>A" "r.spl" "p.?" ""
"0000720209" "00025354" "90" "254" "0" "254" "0" "c.254C>G" "r.(?)" "p.(Ser85Cys)" ""
"0000720210" "00025354" "50" "2273" "0" "2273" "0" "c.2273C>G" "r.(?)" "p.(Thr758Arg)" ""
"0000720211" "00025354" "50" "2400" "0" "2400" "0" "c.2400G>A" "r.(?)" "p.(Gly800=)" ""
"0000850796" "00025354" "30" "-177" "-13226" "-177" "-13226" "c.-177-13226T>G" "r.(=)" "p.(=)" ""
"0000850797" "00025354" "30" "2148" "2" "2148" "3" "c.2148+2_2148+3insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGA" "r.spl?" "p.?" ""
"0000859773" "00025354" "30" "1893" "0" "1893" "0" "c.1893C>T" "r.(?)" "p.(Ser631=)" ""
"0000912241" "00025354" "50" "871" "0" "871" "0" "c.871C>A" "r.(?)" "p.(His291Asn)" ""
"0000912242" "00025354" "30" "1183" "-5" "1183" "-5" "c.1183-5G>A" "r.spl?" "p.?" ""
"0000929020" "00025354" "30" "1991" "0" "1991" "0" "c.1991A>C" "r.(?)" "p.(Glu664Ala)" ""
"0000948491" "00025354" "50" "1132" "0" "1132" "0" "c.1132G>A" "r.(?)" "p.(Ala378Thr)" ""
"0000976583" "00025354" "50" "56" "0" "56" "0" "c.56G>A" "r.(?)" "p.(Arg19His)" ""
"0000976584" "00025354" "50" "118" "0" "118" "0" "c.118G>C" "r.(?)" "p.(Ala40Pro)" ""
"0000994684" "00025354" "50" "2390" "0" "2390" "0" "c.2390C>T" "r.(?)" "p.(Pro797Leu)" ""
"0001034923" "00025354" "50" "-339" "2" "-339" "2" "c.-339+2T>A" "r.spl?" "p.?" ""
"0001034926" "00025354" "50" "2148" "2" "2148" "3" "c.2148+2_2148+3insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGAAAACACAGAACCAGGTGCTGAATCTTCTGAGAACGCTGATGATCCCAAC" "r.spl?" "p.?" ""
"0001034927" "00025354" "10" "2360" "0" "2360" "0" "c.2360A>G" "r.(?)" "p.(Asn787Ser)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 37
"{{screeningid}}" "{{variantid}}"
"0000050520" "0000079500"
"0000152420" "0000336577"
"0000152422" "0000336579"
"0000152423" "0000336580"
"0000211134" "0000442571"
"0000211134" "0000442572"
"0000211135" "0000442573"
"0000211136" "0000442574"
"0000211137" "0000442575"
"0000211138" "0000442576"
"0000211139" "0000442577"
"0000211140" "0000442578"
"0000211141" "0000442579"
"0000211142" "0000442580"
"0000211143" "0000442581"
"0000211144" "0000442582"
"0000211145" "0000442583"
"0000211146" "0000442584"
"0000211147" "0000442585"
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