### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LEMD2) # 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}}" "LEMD2" "LEM domain containing 2" "6" "p21.31" "unknown" "NG_053042.1" "UD_132438741863" "" "https://www.LOVD.nl/LEMD2" "" "1" "21244" "221496" "616312" "1" "1" "1" "1" "" "" "g" "https://databases.lovd.nl/shared/refseq/LEMD2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-02-12 08:55:29" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00025370" "LEMD2" "transcript variant 1" "001" "NM_181336.3" "" "NP_851853.1" "" "" "" "-13" "2927" "1512" "33756906" "33738990" "00006" "2019-02-12 08:56:34" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "05375" "progeroid" "progeroid syndrome (premature aging)" "" "" "" "" "" "00006" "2018-01-12 16:46:58" "00006" "2021-12-10 21:51:32" "05560" "CTRCT46" "cataract, type 46, juvenile-onset (CTRCT-46)" "AR" "212500" "" "autosomal recessive" "" "00006" "2019-02-12 09:12:36" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "LEMD2" "05560" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00222778" "" "" "" "1" "" "01296" "{PMID:Marbach 2019:30905398}, {DOI:Marbach 2019: 10.1016/j.ajhg.2019.02.021}" "" "M" "-" "Germany" "" "0" "" "" "" "Pat1" "00222781" "" "" "" "1" "" "01296" "{PMID:Marbach 2019:30905398}, {DOI:Marbach 2019: 10.1016/j.ajhg.2019.02.021}" "" "M" "-" "Norway" "" "0" "" "" "" "Pat2" "00222816" "" "" "" "5" "" "00006" "{PMID:Boone 2015:26788539}" "7-generation family, 5 affected (5M), unaffected heterozygous carrier parents/relatives" "M" "yes" "United States" "" "0" "" "" "Hutterite" "26788539-FamAR-899" "00222819" "" "" "" "15" "" "00006" "{PMID:Boone 2015:26788539}" "9-generation family, 15 affected (7F, 8M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "United States" "" "0" "" "" "Hutterite" "26788539-FamAR-900" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00222778" "05375" "00222781" "05375" "00222816" "00296" "00222819" "00296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00296, 05375, 05560 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000167997" "00296" "00222816" "00006" "Familial, autosomal recessive" "" "see paper; ..., juvenile-onset cataract, 3/5 sudden cardiac death" "" "" "" "" "" "" "" "CTRCT-46" "cataract" "0000168000" "00296" "00222819" "00006" "Familial, autosomal recessive" "" "see paper; ..., juvenile-onset cataract and sudden cardiac death" "" "" "" "" "" "" "" "CTRCT-46" "cataract" "0000257153" "05375" "00222778" "00006" "Isolated (sporadic)" "" "see paper; ..., triangular face, prominent eyes, crooked nose, septum deviation, mandibular hypoplasia; no juvenile alopezia, no loss of eyebrows, thin skin, prominent veins, no cutis laxa, no patchy hyperpigmentation, no dystrophic nails; generalized lipoatrophy; microcephaly; Wormian bones, no open cranial sutures, dental crowding, supernumerary teeth, delayed dentition; short stature, low bone density, hypoplastic clavicles, no osteolytic foci, no joint hyperlaxity, no limited joint mobility; intra-uterine growth retardation; no atherosclerosis; intention tremor; no developmental delay" "" "" "" "" "" "" "" "" "progeroid syndrome" "0000257154" "05375" "00222781" "00006" "Isolated (sporadic)" "" "see paper; ..., triangular face, prominent eyes, crooked nose, septum deviation, mandibular hypoplasia; no juvenile alopezia, no loss of eyebrows, thin skin, prominent veins, no cutis laxa, no patchy hyperpigmentation, no dystrophic nails; generalized lipoatrophy; microcephaly; Wormian bones, no open cranial sutures, dental crowding, supernumerary teeth, delayed dentition; no short stature (32th percentile, growth hormone treatment), no low bone density, hypoplastic clavicles, no osteolytic foci, no joint hyperlaxity, no limited joint mobility; no intra-uterine growth retardation; no atherosclerosis; intention tremor; no developmental delay" "" "" "" "" "" "" "" "" "progeroid syndrome" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000223850" "00222778" "1" "01296" "01296" "2019-02-11 16:02:10" "" "" "SEQ-NG" "DNA" "" "" "0000223853" "00222781" "1" "01296" "01296" "2019-02-11 16:07:29" "" "" "SEQ-NG" "DNA" "" "" "0000223888" "00222816" "1" "00006" "00006" "2019-02-12 09:19:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000223891" "00222819" "1" "00006" "00006" "2019-02-12 09:25:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000223888" "LEMD2" "0000223891" "LEMD2" ## 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 = 27 "{{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}}" "0000290959" "0" "30" "6" "33756322" "33756322" "subst" "0.000687014" "01943" "LEMD2_000001" "g.33756322C>T" "" "" "" "LEMD2(NM_181336.3):c.572G>A (p.G191D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33788545C>T" "" "likely benign" "" "0000290960" "0" "50" "6" "33756800" "33756800" "subst" "0" "01943" "LEMD2_000002" "g.33756800G>A" "" "" "" "LEMD2(NM_181336.3):c.94C>T (p.R32C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33789023G>A" "" "VUS" "" "0000455503" "0" "90" "6" "33740481" "33740481" "subst" "0" "01296" "LEMD2_000003" "g.33740481G>A" "" "{PMID:Marbach 2019:30905398}, {DOI:Marbach 2019: 10.1016/j.ajhg.2019.02.021}" "" "" "" "De novo" "yes" "" "0" "" "" "g.33772704G>A" "" "pathogenic" "" "0000455505" "0" "90" "6" "33740481" "33740481" "subst" "0" "01296" "LEMD2_000003" "g.33740481G>A" "" "{PMID:Marbach 2019:30905398}, {DOI:Marbach 2019: 10.1016/j.ajhg.2019.02.021}" "" "" "" "De novo" "yes" "" "0" "" "" "g.33772704G>A" "" "pathogenic" "" "0000455546" "3" "90" "6" "33756856" "33756856" "subst" "0" "00006" "LEMD2_000004" "g.33756856A>C" "" "{PMID:Boone 2015:26788539}" "" "T38G" "" "Germline" "yes" "" "0" "" "" "g.33789079A>C" "" "pathogenic (recessive)" "" "0000455549" "3" "90" "6" "33756856" "33756856" "subst" "0" "00006" "LEMD2_000004" "g.33756856A>C" "" "{PMID:Boone 2015:26788539}" "" "T38G" "" "Germline" "yes" "" "0" "" "" "g.33789079A>C" "" "pathogenic (recessive)" "" "0000528731" "0" "10" "6" "33744722" "33744722" "subst" "0.00199767" "01943" "LEMD2_000005" "g.33744722G>A" "" "" "" "LEMD2(NM_181336.3):c.1361+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33776945G>A" "" "benign" "" "0000528732" "0" "30" "6" "33744911" "33744911" "subst" "0.000617204" "01943" "LEMD2_000006" "g.33744911G>A" "" "" "" "LEMD2(NM_181336.3):c.1258+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33777134G>A" "" "likely benign" "" "0000528733" "0" "50" "6" "33747911" "33747911" "subst" "0" "01943" "LEMD2_000007" "g.33747911A>T" "" "" "" "LEMD2(NM_181336.3):c.976T>A (p.W326R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33780134A>T" "" "VUS" "" "0000528734" "0" "30" "6" "33756549" "33756549" "subst" "5.07395E-5" "01943" "LEMD2_000008" "g.33756549T>G" "" "" "" "LEMD2(NM_181336.3):c.345A>C (p.V115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33788772T>G" "" "likely benign" "" "0000621706" "0" "30" "6" "33756537" "33756537" "subst" "0.000280562" "01943" "LEMD2_000009" "g.33756537G>A" "" "" "" "LEMD2(NM_181336.3):c.357C>T (p.G119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33788760G>A" "" "likely benign" "" "0000655583" "0" "50" "6" "33752175" "33752175" "subst" "6.0984E-5" "01943" "LEMD2_000010" "g.33752175C>A" "" "" "" "LEMD2(NM_181336.3):c.807G>T (p.L269F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33784398C>A" "" "VUS" "" "0000689725" "0" "30" "6" "33747936" "33747936" "subst" "0.000227555" "01943" "LEMD2_000011" "g.33747936G>A" "" "" "" "LEMD2(NM_181336.3):c.951C>T (p.S317=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802573" "0" "50" "6" "33752201" "33752201" "subst" "0.000188709" "01943" "LEMD2_000012" "g.33752201A>G" "" "" "" "LEMD2(NM_181336.3):c.781T>C (p.C261R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802574" "0" "50" "6" "33756817" "33756817" "subst" "0.0017034" "01943" "LEMD2_000013" "g.33756817G>T" "" "" "" "LEMD2(NM_181336.3):c.77C>A (p.T26N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851210" "0" "50" "6" "33756406" "33756406" "subst" "0" "01943" "LEMD2_000014" "g.33756406C>A" "" "" "" "LEMD2(NM_181336.3):c.488G>T (p.W163L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912507" "0" "10" "6" "33740382" "33740382" "subst" "0.535425" "02325" "LEMD2_000015" "g.33740382G>A" "" "" "" "LEMD2(NM_181336.4):c.*23C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912508" "0" "50" "6" "33746028" "33746030" "del" "0" "02329" "LEMD2_000016" "g.33746028_33746030del" "" "" "" "LEMD2(NM_181336.4):c.1151_1153delTCT (p.F384del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977208" "0" "50" "6" "33744759" "33744759" "subst" "1.21853E-5" "01804" "LEMD2_000017" "g.33744759G>A" "" "" "" "LEMD2(NM_181336.4):c.1333C>T (p.(Arg445Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995736" "0" "30" "6" "33756184" "33756184" "subst" "0" "01804" "LEMD2_000018" "g.33756184G>A" "" "" "" "LEMD2(NM_181336.3):c.710C>T (p.(Ser237Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995737" "0" "30" "6" "33756552" "33756552" "subst" "1.26756E-5" "01804" "LEMD2_000019" "g.33756552C>G" "" "" "" "LEMD2(NM_181336.3):c.342G>C (p.(Trp114Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995738" "0" "50" "6" "33756559" "33756559" "subst" "0" "01804" "LEMD2_000020" "g.33756559G>C" "" "" "" "LEMD2(NM_181336.3):c.335C>G (p.(Ala112Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995739" "0" "50" "6" "33756706" "33756706" "subst" "0" "01804" "LEMD2_000021" "g.33756706C>A" "" "" "" "LEMD2(NM_181336.3):c.188G>T (p.(Arg63Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995740" "0" "50" "6" "33756818" "33756818" "subst" "0" "01804" "LEMD2_000022" "g.33756818T>C" "" "" "" "LEMD2(NM_181336.3):c.76A>G (p.(Thr26Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035736" "0" "50" "6" "33756577" "33756579" "del" "0" "01804" "LEMD2_000023" "g.33756577_33756579del" "" "" "" "LEMD2(NM_181336.4):c.316_318del (p.(Asp106del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052328" "0" "50" "6" "33756210" "33756210" "subst" "0" "01804" "LEMD2_000024" "g.33756210G>C" "" "" "" "LEMD2(NM_181336.4):c.684C>G (p.(Ile228Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052329" "0" "50" "6" "33756893" "33756893" "subst" "0" "01804" "LEMD2_000025" "g.33756893T>G" "" "" "" "LEMD2(NM_181336.4):c.1A>C (p.(Met1?))" "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 LEMD2 ## Count = 27 "{{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}}" "0000290959" "00025370" "30" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Gly191Asp)" "" "0000290960" "00025370" "50" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Arg32Cys)" "" "0000455503" "00025370" "90" "1436" "0" "1436" "0" "c.1436C>T" "r.(?)" "p.(Ser479Phe)" "" "0000455505" "00025370" "90" "1436" "0" "1436" "0" "c.1436C>T" "r.(?)" "p.(Ser479Phe)" "" "0000455546" "00025370" "90" "38" "0" "38" "0" "c.38T>G" "r.(?)" "p.(Leu13Arg)" "" "0000455549" "00025370" "90" "38" "0" "38" "0" "c.38T>G" "r.(?)" "p.(Leu13Arg)" "" "0000528731" "00025370" "10" "1361" "9" "1361" "9" "c.1361+9C>T" "r.(=)" "p.(=)" "" "0000528732" "00025370" "30" "1258" "4" "1258" "4" "c.1258+4C>T" "r.spl?" "p.?" "" "0000528733" "00025370" "50" "976" "0" "976" "0" "c.976T>A" "r.(?)" "p.(Trp326Arg)" "" "0000528734" "00025370" "30" "345" "0" "345" "0" "c.345A>C" "r.(?)" "p.(Val115=)" "" "0000621706" "00025370" "30" "357" "0" "357" "0" "c.357C>T" "r.(?)" "p.(Gly119=)" "" "0000655583" "00025370" "50" "807" "0" "807" "0" "c.807G>T" "r.(?)" "p.(Leu269Phe)" "" "0000689725" "00025370" "30" "951" "0" "951" "0" "c.951C>T" "r.(?)" "p.(Ser317=)" "" "0000802573" "00025370" "50" "781" "0" "781" "0" "c.781T>C" "r.(?)" "p.(Cys261Arg)" "" "0000802574" "00025370" "50" "77" "0" "77" "0" "c.77C>A" "r.(?)" "p.(Thr26Asn)" "" "0000851210" "00025370" "50" "488" "0" "488" "0" "c.488G>T" "r.(?)" "p.(Trp163Leu)" "" "0000912507" "00025370" "10" "1535" "0" "1535" "0" "c.*23C>T" "r.(=)" "p.(=)" "" "0000912508" "00025370" "50" "1151" "0" "1153" "0" "c.1151_1153del" "r.(?)" "p.(Phe384del)" "" "0000977208" "00025370" "50" "1333" "0" "1333" "0" "c.1333C>T" "r.(?)" "p.(Arg445Cys)" "" "0000995736" "00025370" "30" "710" "0" "710" "0" "c.710C>T" "r.(?)" "p.(Ser237Leu)" "" "0000995737" "00025370" "30" "342" "0" "342" "0" "c.342G>C" "r.(?)" "p.(Trp114Cys)" "" "0000995738" "00025370" "50" "335" "0" "335" "0" "c.335C>G" "r.(?)" "p.(Ala112Gly)" "" "0000995739" "00025370" "50" "188" "0" "188" "0" "c.188G>T" "r.(?)" "p.(Arg63Leu)" "" "0000995740" "00025370" "50" "76" "0" "76" "0" "c.76A>G" "r.(?)" "p.(Thr26Ala)" "" "0001035736" "00025370" "50" "316" "0" "318" "0" "c.316_318del" "r.(?)" "p.(Asp106del)" "" "0001052328" "00025370" "50" "684" "0" "684" "0" "c.684C>G" "r.(?)" "p.(Ile228Met)" "" "0001052329" "00025370" "50" "1" "0" "1" "0" "c.1A>C" "r.(?)" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000223850" "0000455503" "0000223853" "0000455505" "0000223888" "0000455546" "0000223891" "0000455549"