### LOVD-version 3000-28d ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LAMA3) # 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}}" "LAMA3" "laminin, alpha 3" "18" "q11.2" "unknown" "NG_007853.2" "UD_132085432077" "" "https://www.LOVD.nl/LAMA3" "" "1" "6483" "3909" "600805" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/LAMA3_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2018-12-14 10:18:45" "00000" "2023-01-11 15:44:22" ## 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}}" "00025347" "LAMA3" "transcript variant 1" "001" "NM_198129.1" "" "NP_937762.1" "" "" "" "-86" "10420" "10002" "21269562" "21535030" "00006" "2018-12-14 10:19:25" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "01617" "ABL" "abetalipoproteinaemia (ABL)" "AR" "200100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01774" "-" "epidermolysis bullosa, junctional, non-Herlitz type" "AR" "226650" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01776" "-" "epidermolysis bullosa, junctional, Herlitz type" "AR" "226700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01891" "LOCS" "laryngoonychocutaneous syndrome (LOCS)" "AR" "245660" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05487" "cancer, rectal" "cancer, rectal" "" "" "" "" "" "00006" "2018-10-25 09:29:33" "" "" "05650" "AI" "amelogenesis imperfecta (AI)" "" "" "" "" "" "00006" "2019-09-11 22:21:30" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "LAMA3" "01774" "LAMA3" "01776" "LAMA3" "01891" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00000054" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00208603" "" "" "" "2" "" "03131" "" "" "" "" "" "" "0" "" "" "" "Fam8" "00208612" "" "" "" "1" "" "03131" "" "" "" "" "" "" "0" "" "" "" "Fam1213" "00291924" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291925" "" "" "" "30" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291926" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304619" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00385894" "" "" "" "2" "" "00006" "{PMID:Prasad 2016:26502894}" "2-generation family, affected mother/daugther" "F" "" "" "" "0" "" "" "" "V2.82" "00386486" "" "" "" "1" "" "00006" "{PMID:Nair 2018:30293248}" "" "" "" "Lebanon" "" "0" "" "" "" "" "00386509" "" "" "" "1" "" "00006" "{PMID:Nair 2018:30293248}" "patient" "" "" "Lebanon" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00000054" "01617" "00208603" "05487" "00208612" "05487" "00291924" "00198" "00291925" "00198" "00291926" "00198" "00304619" "00198" "00385894" "05650" "00386486" "00198" "00386509" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01617, 01774, 01776, 01891, 05487, 05650 ## Count = 4 "{{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}}" "0000154673" "01617" "00000054" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000279697" "05650" "00385894" "00006" "Familial, autosomal dominant" "14y" "isolated hypoplastic amelogenesis imperfecta; more severe phenotype compared to mother (without LAMA3 variant), possible di-genic inheritance" "" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" "" "0000280293" "00198" "00386486" "00006" "Unknown" "" "difficulty walking; abnormal lower motor neuron morphology (neurological)" "" "" "" "" "" "" "" "" "" "" "" "0000280315" "00198" "00386509" "00006" "Unknown" "" "epidermolysis bullosa (dermatological)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000054" "00000054" "1" "00004" "" "2012-05-11 13:18:51" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000209652" "00208603" "1" "03131" "03131" "2018-12-11 21:32:33" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000209661" "00208612" "1" "03131" "03131" "2018-12-12 10:10:20" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000293092" "00291924" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293093" "00291925" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293094" "00291926" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305748" "00304619" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000387122" "00385894" "1" "00006" "00006" "2021-10-18 13:33:16" "" "" "SEQ;SEQ-NG" "DNA" "" "disease gene panel" "0000387714" "00386486" "1" "00006" "00006" "2021-10-22 17:08:52" "" "" "SEQ-NG-IT" "DNA" "" "WES" "0000387736" "00386509" "1" "00006" "00006" "2021-10-22 17:45:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{geneid}}" "0000000054" "ATM" "0000000054" "ATP7B" "0000000054" "DPYD" "0000000054" "ETFB" "0000000054" "GALC" "0000000054" "GLB1" "0000000054" "GNPTAB" "0000000054" "LAMA2" "0000000054" "LAMA3" "0000000054" "NHLRC1" "0000000054" "NPHS1" "0000000054" "SERPINA1" "0000000054" "SLC26A2" "0000387122" "COL17A1" "0000387122" "LAMA3" ## 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 = 69 "{{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}}" "0000000677" "0" "50" "18" "21513888" "21513888" "subst" "0.00105196" "00002" "LAMA3_000001" "g.21513888C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.23933924C>T" "" "VUS" "" "0000249409" "0" "30" "18" "21424984" "21424984" "subst" "0.000203065" "02325" "LAMA3_000026" "g.21424984A>G" "" "" "" "LAMA3(NM_198129.4):c.3615A>G (p.L1205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23845020A>G" "" "likely benign" "" "0000249739" "0" "50" "18" "21529877" "21529877" "subst" "0.00000812123" "02325" "LAMA3_000014" "g.21529877A>C" "" "" "" "LAMA3(NM_198129.4):c.9500A>C (p.H3167P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23949913A>C" "" "VUS" "" "0000281985" "0" "30" "18" "21393086" "21393086" "subst" "0.00966932" "02325" "LAMA3_000022" "g.21393086G>C" "" "" "" "LAMA3(NM_198129.4):c.1788+19G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23813122G>C" "" "likely benign" "" "0000281986" "0" "30" "18" "21394384" "21394384" "subst" "0.0142511" "02325" "LAMA3_000023" "g.21394384G>A" "" "" "" "LAMA3(NM_198129.4):c.1806G>A (p.K602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23814420G>A" "" "likely benign" "" "0000281987" "0" "10" "18" "21413869" "21413869" "subst" "0.659238" "02325" "LAMA3_000025" "g.21413869T>C" "" "" "" "LAMA3(NM_198129.4):c.2901T>C (p.A967=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23833905T>C" "" "benign" "" "0000281988" "0" "10" "18" "21293880" "21293880" "del" "0" "02325" "LAMA3_000020" "g.21293880del" "" "" "" "LAMA3(NM_198129.4):c.295-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23713916del" "" "benign" "" "0000281989" "0" "50" "18" "21453046" "21453046" "subst" "0.0000527914" "02325" "LAMA3_000002" "g.21453046G>T" "" "" "" "LAMA3(NM_000227.6):c.38G>T (p.G13V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23873082G>T" "" "VUS" "" "0000281990" "0" "30" "18" "21427556" "21427556" "subst" "0.002515" "02325" "LAMA3_000027" "g.21427556G>A" "" "" "" "LAMA3(NM_198129.4):c.4060G>A (p.E1354K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23847592G>A" "" "likely benign" "" "0000281991" "0" "30" "18" "21427606" "21427606" "subst" "0.0038082" "02325" "LAMA3_000028" "g.21427606G>A" "" "" "" "LAMA3(NM_198129.4):c.4110G>A (p.E1370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23847642G>A" "" "likely benign" "" "0000281992" "0" "10" "18" "21437931" "21437931" "subst" "0.494182" "02325" "LAMA3_000029" "g.21437931G>C" "" "" "" "LAMA3(NM_198129.4):c.4260G>C (p.G1420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23857967G>C" "" "benign" "" "0000281993" "0" "10" "18" "21441717" "21441717" "subst" "0.492352" "02325" "LAMA3_000030" "g.21441717C>T" "" "" "" "LAMA3(NM_198129.4):c.4530C>T (p.P1510=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23861753C>T" "" "benign" "" "0000281994" "0" "30" "18" "21441785" "21441785" "subst" "0.00308626" "02325" "LAMA3_000031" "g.21441785G>A" "" "" "" "LAMA3(NM_198129.4):c.4584+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23861821G>A" "" "likely benign" "" "0000281995" "0" "30" "18" "21269704" "21269704" "subst" "0.0136938" "02325" "LAMA3_000019" "g.21269704G>C" "" "" "" "LAMA3(NM_198129.4):c.57G>C (p.T19=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23689740G>C" "" "likely benign" "" "0000281996" "0" "90" "18" "21479319" "21479319" "dup" "0" "02325" "LAMA3_000004" "g.21479319dup" "" "" "" "LAMA3(NM_198129.4):c.5905delGinsAG (p.E1969Rfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23899355dup" "" "pathogenic" "" "0000281997" "0" "90" "18" "21487540" "21487540" "subst" "0" "02325" "LAMA3_000005" "g.21487540C>T" "" "" "" "LAMA3(NM_198129.4):c.6745C>T (p.Q2249*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23907576C>T" "" "pathogenic" "" "0000281998" "0" "30" "18" "21492734" "21492734" "subst" "0.00139322" "02325" "LAMA3_000006" "g.21492734C>T" "" "" "" "LAMA3(NM_198129.4):c.7218C>T (p.D2406=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23912770C>T" "" "likely benign" "" "0000281999" "0" "10" "18" "21496533" "21496533" "subst" "0.00512348" "02325" "LAMA3_000008" "g.21496533C>T" "" "" "" "LAMA3(NM_198129.4):c.7797C>T (p.D2599=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23916569C>T" "" "benign" "" "0000282000" "0" "10" "18" "21511172" "21511172" "subst" "0.976053" "02325" "LAMA3_000010" "g.21511172G>C" "" "" "" "LAMA3(NM_198129.4):c.8576+7G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23931208G>C" "" "benign" "" "0000282001" "0" "30" "18" "21333720" "21333720" "subst" "0.00248997" "02325" "LAMA3_000021" "g.21333720G>A" "" "" "" "LAMA3(NM_198129.4):c.891G>A (p.G297=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23753756G>A" "" "likely benign" "" "0000282002" "0" "50" "18" "21526166" "21526166" "subst" "0.0000406095" "02325" "LAMA3_000012" "g.21526166G>T" "" "" "" "LAMA3(NM_198129.4):c.9269G>T (p.R3090L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23946202G>T" "" "VUS" "" "0000282003" "0" "10" "18" "21529722" "21529722" "subst" "0.536675" "02325" "LAMA3_000013" "g.21529722G>A" "" "" "" "LAMA3(NM_198129.4):c.9352-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23949758G>A" "" "benign" "" "0000282004" "0" "90" "18" "21529889" "21529889" "subst" "0.00000406072" "02325" "LAMA3_000015" "g.21529889G>A" "" "" "" "LAMA3(NM_198129.4):c.9511+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23949925G>A" "" "pathogenic" "" "0000282005" "0" "10" "18" "21531634" "21531634" "subst" "0.0113366" "02325" "LAMA3_000016" "g.21531634C>T" "" "" "" "LAMA3(NM_198129.4):c.9643-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23951670C>T" "" "benign" "" "0000290676" "0" "50" "18" "21404424" "21404424" "subst" "0.000036569" "01943" "LAMA3_000024" "g.21404424T>A" "" "" "" "LAMA3(NM_198129.2):c.2466T>A (p.S822R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23824460T>A" "" "VUS" "" "0000290677" "0" "30" "18" "21474931" "21474931" "subst" "0.00000406838" "01943" "LAMA3_000003" "g.21474931G>T" "" "" "" "LAMA3(NM_198129.2):c.5522G>T (p.R1841L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23894967G>T" "" "likely benign" "" "0000290678" "0" "50" "18" "21495350" "21495350" "subst" "0" "01943" "LAMA3_000007" "g.21495350T>C" "" "" "" "LAMA3(NM_198129.2):c.7742T>C (p.F2581S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23915386T>C" "" "VUS" "" "0000290679" "0" "30" "18" "21511086" "21511086" "subst" "0.0000487642" "01943" "LAMA3_000009" "g.21511086G>A" "" "" "" "LAMA3(NM_198129.2):c.8497G>A (p.G2833S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23931122G>A" "" "likely benign" "" "0000290680" "0" "50" "18" "21523792" "21523792" "subst" "0" "01943" "LAMA3_000011" "g.21523792G>A" "" "" "" "LAMA3(NM_198129.2):c.9067G>A (p.G3023R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23943828G>A" "" "VUS" "" "0000439847" "0" "50" "18" "21511034" "21511034" "subst" "0.193052" "03131" "LAMA3_000017" "g.21511034C>A" "" "" "" "" "" "Germline" "yes" "rs1154232" "0" "" "" "g.23931070C>A" "" "VUS" "" "0000439873" "0" "50" "18" "21424991" "21424991" "subst" "0.0641415" "03131" "LAMA3_000018" "g.21424991C>A" "" "" "" "" "" "Germline" "yes" "rs17202961" "0" "" "" "g.23845027C>A" "" "VUS" "" "0000564209" "0" "50" "18" "21394391" "21394391" "subst" "0.00000406461" "01943" "LAMA3_000032" "g.21394391G>A" "" "" "" "LAMA3(NM_198129.2):c.1813G>A (p.V605I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23814427G>A" "" "VUS" "" "0000564210" "0" "30" "18" "21395143" "21395143" "subst" "0.0000690933" "01943" "LAMA3_000033" "g.21395143T>C" "" "" "" "LAMA3(NM_198129.2):c.1889-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23815179T>C" "" "likely benign" "" "0000564211" "0" "50" "18" "21406679" "21406679" "subst" "0.0000367067" "01943" "LAMA3_000034" "g.21406679T>C" "" "" "" "LAMA3(NM_198129.2):c.2585T>C (p.L862P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23826715T>C" "" "VUS" "" "0000564212" "0" "30" "18" "21494725" "21494725" "subst" "0.000361803" "01943" "LAMA3_000035" "g.21494725C>T" "" "" "" "LAMA3(NM_198129.2):c.7545C>T (p.P2515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23914761C>T" "" "likely benign" "" "0000564213" "0" "90" "18" "21495345" "21495346" "del" "0" "02325" "LAMA3_000036" "g.21495345_21495346del" "" "" "" "LAMA3(NM_198129.4):c.7737_7738delAA (p.K2579Nfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23915381_23915382del" "" "pathogenic" "" "0000564214" "0" "70" "18" "21501018" "21501018" "subst" "0.00000813352" "02325" "LAMA3_000037" "g.21501018G>A" "" "" "" "LAMA3(NM_198129.4):c.8043G>A (p.S2681=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23921054G>A" "" "likely pathogenic" "" "0000564215" "0" "10" "18" "21511089" "21511089" "subst" "0.999963" "02325" "LAMA3_000038" "g.21511089A>G" "" "" "" "LAMA3(NM_198129.4):c.8500A>G (p.S2834G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23931125=" "" "benign" "" "0000564216" "0" "30" "18" "21511172" "21511172" "subst" "0.00244505" "01804" "LAMA3_000039" "g.21511172G>T" "" "" "" "LAMA3(NM_000227.3):c.3749+7G>T (p.(=)), LAMA3(NM_198129.2):c.8576+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23931208G>T" "" "likely benign" "" "0000564217" "0" "30" "18" "21513888" "21513888" "subst" "0.00105196" "02325" "LAMA3_000001" "g.21513888C>T" "" "" "" "LAMA3(NM_198129.4):c.8851C>T (p.R2951C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23933924C>T" "" "likely benign" "" "0000617006" "0" "50" "18" "21331010" "21331010" "subst" "0" "02325" "LAMA3_000041" "g.21331010C>G" "" "" "" "LAMA3(NM_198129.4):c.813C>G (p.H271Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23751046C>G" "" "VUS" "" "0000617007" "0" "30" "18" "21447872" "21447872" "subst" "0.000024371" "01943" "LAMA3_000042" "g.21447872C>T" "" "" "" "LAMA3(NM_198129.2):c.4758C>T (p.H1586=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23867908C>T" "" "likely benign" "" "0000617008" "0" "50" "18" "21456327" "21456327" "subst" "0" "01943" "LAMA3_000043" "g.21456327A>G" "" "" "" "LAMA3(NM_198129.2):c.5068A>G (p.N1690D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23876363A>G" "" "VUS" "" "0000617009" "0" "50" "18" "21474921" "21474921" "subst" "0.0000284673" "02325" "LAMA3_000044" "g.21474921G>A" "" "" "" "LAMA3(NM_198129.4):c.5512G>A (p.E1838K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23894957G>A" "" "VUS" "" "0000623817" "0" "30" "18" "21512259" "21512259" "subst" "0.000678211" "02325" "LAMA3_000045" "g.21512259G>A" "" "" "" "LAMA3(NM_198129.4):c.8708+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23932295G>A" "" "likely benign" "" "0000623818" "0" "30" "18" "21529989" "21529989" "subst" "0.00000406303" "02325" "LAMA3_000046" "g.21529989A>T" "" "" "" "LAMA3(NM_198129.4):c.9512-4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23950025A>T" "" "likely benign" "" "0000649781" "1" "30" "18" "21519222" "21519222" "subst" "0.00283555" "03575" "LAMA3_000047" "g.21519222C>T" "11/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 heterozygous, no homozygous; {DB:CLININrs141164795}" "Germline" "" "rs141164795" "0" "" "" "g.23939258C>T" "" "likely benign" "" "0000649782" "1" "30" "18" "21529730" "21529730" "subst" "0.0160136" "03575" "LAMA3_000040" "g.21529730G>A" "30/2784 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "30 heterozygous; {DB:CLININrs61749943}" "Germline" "" "rs61749943" "0" "" "" "g.23949766G>A" "" "likely benign" "" "0000649783" "1" "30" "18" "21530040" "21530040" "subst" "0.00214111" "03575" "LAMA3_000048" "g.21530040C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs150956802}" "Germline" "" "rs150956802" "0" "" "" "g.23950076C>T" "" "likely benign" "" "0000658331" "0" "50" "18" "21353577" "21353592" "del" "0" "02325" "LAMA3_000049" "g.21353577_21353592del" "" "" "" "LAMA3(NM_001302996.2):c.1299_1314delTCTTAGCCTGTGTGTA (p.L434Cfs*31)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23773613_23773628del" "" "VUS" "" "0000658332" "0" "50" "18" "21437897" "21437897" "subst" "0.0000324876" "01943" "LAMA3_000050" "g.21437897G>T" "" "" "" "LAMA3(NM_198129.2):c.4226G>T (p.R1409I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23857933G>T" "" "VUS" "" "0000669436" "3" "30" "18" "21529730" "21529730" "subst" "0.0160136" "03575" "LAMA3_000040" "g.21529730G>A" "1/2784 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs61749943}" "Germline" "" "rs61749943" "0" "" "" "g.23949766G>A" "" "likely benign" "" "0000726834" "0" "30" "18" "21427525" "21427525" "subst" "0.000012197" "01943" "LAMA3_000051" "g.21427525C>T" "" "" "" "LAMA3(NM_198129.2):c.4029C>T (p.H1343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726835" "0" "50" "18" "21437834" "21437834" "subst" "0.000089351" "02325" "LAMA3_000052" "g.21437834A>T" "" "" "" "LAMA3(NM_198129.4):c.4163A>T (p.Q1388L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726836" "0" "30" "18" "21484568" "21484568" "subst" "0.000057889" "01943" "LAMA3_000053" "g.21484568C>T" "" "" "" "LAMA3(NM_198129.2):c.6525C>T (p.A2175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726837" "0" "30" "18" "21487869" "21487869" "subst" "0.0000163571" "01943" "LAMA3_000054" "g.21487869A>G" "" "" "" "LAMA3(NM_198129.2):c.6985A>G (p.K2329E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808409" "0" "50" "18" "21481208" "21481208" "subst" "0.000134042" "01943" "LAMA3_000055" "g.21481208G>A" "" "" "" "LAMA3(NM_198129.2):c.6122G>A (p.R2041Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808410" "0" "30" "18" "21511172" "21511172" "subst" "0.00244505" "01943" "LAMA3_000039" "g.21511172G>T" "" "" "" "LAMA3(NM_000227.3):c.3749+7G>T (p.(=)), LAMA3(NM_198129.2):c.8576+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000815016" "0" "90" "18" "21484520" "21484529" "del" "0" "00006" "LAMA3_000056" "g.21484520_21484529del" "" "{PMID:Prasad 2016:26502894}" "" "" "more severe phenotype compared to mother (without LAMA3 variant), possible di-genic inheritance" "Germline/De novo (untested)" "" "" "0" "" "" "g.23904556_23904565del" "" "pathogenic" "" "0000815847" "0" "70" "18" "21481201" "21481201" "subst" "0.0000893575" "00006" "LAMA3_000057" "g.21481201C>T" "" "{PMID:Nair 2018:30293248}" "" "" "" "Germline/De novo (untested)" "" "rs138451075" "0" "" "" "g.23901237C>T" "" "likely pathogenic" "" "0000815870" "3" "70" "18" "21394360" "21394362" "del" "0" "00006" "LAMA3_000058" "g.21394360_21394362del" "" "{PMID:Nair 2018:30293248}" "" "c.1789-7_1789-5delTTC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23814396_23814398del" "" "likely pathogenic" "" "0000855215" "0" "30" "18" "21333676" "21333676" "subst" "0.0000081277" "01943" "LAMA3_000059" "g.21333676G>C" "" "" "" "LAMA3(NM_198129.2):c.856-9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855216" "0" "50" "18" "21390362" "21390362" "subst" "0" "01943" "LAMA3_000060" "g.21390362A>G" "" "" "" "LAMA3(NM_198129.2):c.1636A>G (p.M546V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855217" "0" "30" "18" "21404537" "21404537" "subst" "0.0000121992" "01943" "LAMA3_000061" "g.21404537T>G" "" "" "" "LAMA3(NM_198129.2):c.2571+8T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855218" "0" "30" "18" "21413842" "21413842" "subst" "0.000296565" "01943" "LAMA3_000062" "g.21413842T>G" "" "" "" "LAMA3(NM_198129.2):c.2874T>G (p.V958=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865634" "0" "30" "18" "21444807" "21444807" "subst" "0.000926988" "02325" "LAMA3_000063" "g.21444807A>G" "" "" "" "LAMA3(NM_198129.4):c.4643A>G (p.D1548G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894436" "0" "50" "18" "21441619" "21441619" "subst" "0.00000812513" "02325" "LAMA3_000064" "g.21441619A>T" "" "" "" "LAMA3(NM_198129.4):c.4432A>T (p.M1478L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894437" "0" "90" "18" "21487844" "21487844" "subst" "0" "02327" "LAMA3_000065" "g.21487844T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000894438" "0" "50" "18" "21511155" "21511155" "subst" "0.000020309" "02325" "LAMA3_000066" "g.21511155G>A" "" "" "" "LAMA3(NM_000227.6):c.3739G>A (p.D1247N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes LAMA3 ## Count = 69 "{{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}}" "0000000677" "00025347" "00" "8851" "0" "8851" "0" "c.8851C>T" "r.(?)" "p.(Arg2951Cys)" "" "0000249409" "00025347" "30" "3615" "0" "3615" "0" "c.3615A>G" "r.(?)" "p.(Leu1205=)" "" "0000249739" "00025347" "50" "9500" "0" "9500" "0" "c.9500A>C" "r.(?)" "p.(His3167Pro)" "" "0000281985" "00025347" "30" "1788" "19" "1788" "19" "c.1788+19G>C" "r.(=)" "p.(=)" "" "0000281986" "00025347" "30" "1806" "0" "1806" "0" "c.1806G>A" "r.(?)" "p.(Lys602=)" "" "0000281987" "00025347" "10" "2901" "0" "2901" "0" "c.2901T>C" "r.(?)" "p.(Ala967=)" "" "0000281988" "00025347" "10" "295" "-4" "295" "-4" "c.295-4del" "r.spl?" "p.?" "" "0000281989" "00025347" "50" "4998" "1421" "4998" "1421" "c.4998+1421G>T" "r.(=)" "p.(=)" "" "0000281990" "00025347" "30" "4060" "0" "4060" "0" "c.4060G>A" "r.(?)" "p.(Glu1354Lys)" "" "0000281991" "00025347" "30" "4110" "0" "4110" "0" "c.4110G>A" "r.(?)" "p.(Glu1370=)" "" "0000281992" "00025347" "10" "4260" "0" "4260" "0" "c.4260G>C" "r.(?)" "p.(Gly1420=)" "" "0000281993" "00025347" "10" "4530" "0" "4530" "0" "c.4530C>T" "r.(?)" "p.(Pro1510=)" "" "0000281994" "00025347" "30" "4584" "14" "4584" "14" "c.4584+14G>A" "r.(=)" "p.(=)" "" "0000281995" "00025347" "30" "57" "0" "57" "0" "c.57G>C" "r.(?)" "p.(Thr19=)" "" "0000281996" "00025347" "90" "5904" "0" "5904" "0" "c.5904dup" "r.(?)" "p.(Glu1969ArgfsTer4)" "" "0000281997" "00025347" "90" "6745" "0" "6745" "0" "c.6745C>T" "r.(?)" "p.(Gln2249Ter)" "" "0000281998" "00025347" "30" "7218" "0" "7218" "0" "c.7218C>T" "r.(?)" "p.(Asp2406=)" "" "0000281999" "00025347" "10" "7797" "0" "7797" "0" "c.7797C>T" "r.(?)" "p.(Asp2599=)" "" "0000282000" "00025347" "10" "8576" "7" "8576" "7" "c.8576+7G>C" "r.(=)" "p.(=)" "" "0000282001" "00025347" "30" "891" "0" "891" "0" "c.891G>A" "r.(?)" "p.(Gly297=)" "" "0000282002" "00025347" "50" "9269" "0" "9269" "0" "c.9269G>T" "r.(?)" "p.(Arg3090Leu)" "" "0000282003" "00025347" "10" "9352" "-7" "9352" "-7" "c.9352-7G>A" "r.(=)" "p.(=)" "" "0000282004" "00025347" "90" "9511" "1" "9511" "1" "c.9511+1G>A" "r.spl?" "p.?" "" "0000282005" "00025347" "10" "9643" "-14" "9643" "-14" "c.9643-14C>T" "r.(=)" "p.(=)" "" "0000290676" "00025347" "50" "2466" "0" "2466" "0" "c.2466T>A" "r.(?)" "p.(Ser822Arg)" "" "0000290677" "00025347" "30" "5522" "0" "5522" "0" "c.5522G>T" "r.(?)" "p.(Arg1841Leu)" "" "0000290678" "00025347" "50" "7742" "0" "7742" "0" "c.7742T>C" "r.(?)" "p.(Phe2581Ser)" "" "0000290679" "00025347" "30" "8497" "0" "8497" "0" "c.8497G>A" "r.(?)" "p.(Gly2833Ser)" "" "0000290680" "00025347" "50" "9067" "0" "9067" "0" "c.9067G>A" "r.(?)" "p.(Gly3023Arg)" "" "0000439847" "00025347" "50" "8445" "0" "8445" "0" "c.8445C>A" "r.(?)" "p.(Asn2815Lys)" "" "0000439873" "00025347" "50" "3622" "0" "3622" "0" "c.3622C>A" "r.(?)" "p.(Pro1208Thr)" "" "0000564209" "00025347" "50" "1813" "0" "1813" "0" "c.1813G>A" "r.(?)" "p.(Val605Ile)" "" "0000564210" "00025347" "30" "1889" "-9" "1889" "-9" "c.1889-9T>C" "r.(=)" "p.(=)" "" "0000564211" "00025347" "50" "2585" "0" "2585" "0" "c.2585T>C" "r.(?)" "p.(Leu862Pro)" "" "0000564212" "00025347" "30" "7545" "0" "7545" "0" "c.7545C>T" "r.(?)" "p.(Pro2515=)" "" "0000564213" "00025347" "90" "7737" "0" "7738" "0" "c.7737_7738del" "r.(?)" "p.(Lys2579AsnfsTer8)" "" "0000564214" "00025347" "70" "8043" "0" "8043" "0" "c.8043G>A" "r.(?)" "p.(Ser2681=)" "" "0000564215" "00025347" "10" "8500" "0" "8500" "0" "c.8500A>G" "r.(?)" "p.(Ser2834Gly)" "" "0000564216" "00025347" "30" "8576" "7" "8576" "7" "c.8576+7G>T" "r.(=)" "p.(=)" "" "0000564217" "00025347" "30" "8851" "0" "8851" "0" "c.8851C>T" "r.(?)" "p.(Arg2951Cys)" "" "0000617006" "00025347" "50" "813" "0" "813" "0" "c.813C>G" "r.(?)" "p.(His271Gln)" "" "0000617007" "00025347" "30" "4758" "0" "4758" "0" "c.4758C>T" "r.(?)" "p.(His1586=)" "" "0000617008" "00025347" "50" "5068" "0" "5068" "0" "c.5068A>G" "r.(?)" "p.(Asn1690Asp)" "" "0000617009" "00025347" "50" "5512" "0" "5512" "0" "c.5512G>A" "r.(?)" "p.(Glu1838Lys)" "" "0000623817" "00025347" "30" "8708" "4" "8708" "4" "c.8708+4G>A" "r.spl?" "p.?" "" "0000623818" "00025347" "30" "9512" "-4" "9512" "-4" "c.9512-4A>T" "r.spl?" "p.?" "" "0000649781" "00025347" "30" "8898" "0" "8898" "0" "c.8898C>T" "r.(=)" "p.(=)" "" "0000649782" "00025347" "30" "9353" "0" "9353" "0" "c.9353G>A" "r.(?)" "p.(Ser3118Asn)" "" "0000649783" "00025347" "30" "9559" "0" "9559" "0" "c.9559C>T" "r.(?)" "p.(Arg3187Cys)" "" "0000658331" "00025347" "50" "1273" "26" "1273" "41" "c.1273+26_1273+41del" "r.(=)" "p.(=)" "" "0000658332" "00025347" "50" "4226" "0" "4226" "0" "c.4226G>T" "r.(?)" "p.(Arg1409Ile)" "" "0000669436" "00025347" "30" "9353" "0" "9353" "0" "c.9353G>A" "r.(?)" "p.(Ser3118Asn)" "" "0000726834" "00025347" "30" "4029" "0" "4029" "0" "c.4029C>T" "r.(?)" "p.(His1343=)" "" "0000726835" "00025347" "50" "4163" "0" "4163" "0" "c.4163A>T" "r.(?)" "p.(Gln1388Leu)" "" "0000726836" "00025347" "30" "6525" "0" "6525" "0" "c.6525C>T" "r.(?)" "p.(Ala2175=)" "" "0000726837" "00025347" "30" "6985" "0" "6985" "0" "c.6985A>G" "r.(?)" "p.(Lys2329Glu)" "" "0000808409" "00025347" "50" "6122" "0" "6122" "0" "c.6122G>A" "r.(?)" "p.(Arg2041Gln)" "" "0000808410" "00025347" "30" "8576" "7" "8576" "7" "c.8576+7G>T" "r.(=)" "p.(=)" "" "0000815016" "00025347" "90" "6477" "0" "6486" "0" "c.6477_6486del" "r.(?)" "p.(Ile2159MetfsTer46)" "" "0000815847" "00025347" "70" "6115" "0" "6115" "0" "c.6115C>T" "r.(?)" "p.(Arg2039Cys)" "" "0000815870" "00025347" "70" "1789" "-7" "1789" "-5" "c.1789-7_1789-5del" "r.(?)" "p.?" "" "0000855215" "00025347" "30" "856" "-9" "856" "-9" "c.856-9G>C" "r.(=)" "p.(=)" "" "0000855216" "00025347" "50" "1636" "0" "1636" "0" "c.1636A>G" "r.(?)" "p.(Met546Val)" "" "0000855217" "00025347" "30" "2571" "8" "2571" "8" "c.2571+8T>G" "r.(=)" "p.(=)" "" "0000855218" "00025347" "30" "2874" "0" "2874" "0" "c.2874T>G" "r.(?)" "p.(Val958=)" "" "0000865634" "00025347" "30" "4643" "0" "4643" "0" "c.4643A>G" "r.(?)" "p.(Asp1548Gly)" "" "0000894436" "00025347" "50" "4432" "0" "4432" "0" "c.4432A>T" "r.(?)" "p.(Met1478Leu)" "" "0000894437" "00025347" "90" "6960" "0" "6960" "0" "c.6960T>A" "r.(?)" "p.(Tyr2320*)" "" "0000894438" "00025347" "50" "8566" "0" "8566" "0" "c.8566G>A" "r.(?)" "p.(Asp2856Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000000054" "0000000677" "0000209652" "0000439847" "0000209661" "0000439873" "0000293092" "0000649781" "0000293093" "0000649782" "0000293094" "0000649783" "0000305748" "0000669436" "0000387122" "0000815016" "0000387714" "0000815847" "0000387736" "0000815870"