### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = LIM2)
# 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}}"
"LIM2" "lens intrinsic membrane protein 2, 19kDa" "19" "q13.4" "unknown" "NC_000019.9" "UD_132119134046" "" "https://www.LOVD.nl/LIM2" "" "1" "6610" "3982" "154045" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/LIM2_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2010-03-01 00:00:00" "00006" "2023-03-21 15:52:34" "00006" "2025-11-08 17:42:19"
## Transcripts ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00011140" "LIM2" "transcript variant 1" "002" "NM_030657.3" "" "NP_085915.2" "" "" "" "-44" "940" "648" "51891210" "51883163" "" "0000-00-00 00:00:00" "" ""
"00025824" "LIM2" "transcript variant 2" "001" "NM_001161748.1" "" "NP_001155220.1" "" "" "" "-44" "814" "522" "51891210" "51883163" "00006" "2023-03-21 15:29:23" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{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"
"03879" "CTRCT19" "cataract, type 19" "AR" "615277" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-03-21 15:53:00"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"LIM2" "00296"
"LIM2" "03879"
## Individuals ## Do not remove or alter this header ##
## Count = 6
"{{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}}"
"00434094" "" "" "" "1" "" "00006" "{PMID:Li 2016:27307692}" "" "" "" "China" "" "0" "" "" "" "patients"
"00434172" "" "" "" "6" "" "00006" "{PMID:Fernandez-Alcalde 2021:33923544}" "3-generation family, 6 affected (3F, 3M)" "F;M" "" "Spain" "" "0" "" "" "" "Fam17"
"00434173" "" "" "" "5" "" "00006" "{PMID:Fernandez-Alcalde 2021:33923544}" "3-generation family, 5 affected (4F, M)" "F;M" "" "Spain" "" "0" "" "" "" "Fam18"
"00434174" "" "" "" "1" "" "00006" "{PMID:Fernandez-Alcalde 2021:33923544}" "" "" "" "Spain" "" "0" "" "" "" "Fam19"
"00468377" "" "" "" "2" "" "00006" "{PMID:Guo 2025:40449652}" "family, several affected" "M" "" "China" "" "0" "" "" "" "Fam68Pat11618"
"00468378" "" "" "00468377" "1" "" "00006" "{PMID:Guo 2025:40449652}" "relative" "F" "" "China" "" "0" "" "" "" "Fam68Pat16071"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 6
"{{individualid}}" "{{diseaseid}}"
"00434094" "00296"
"00434172" "00296"
"00434173" "00296"
"00434174" "00296"
"00468377" "00296"
"00468378" "00296"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00296, 03879
## Count = 5
"{{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}}"
"0000324530" "00296" "00434172" "00006" "Familial, autosomal dominant" "" "nuclear cataract; no microphthalmia; no microcornea; no iris malformations" "" "" "" "" "" "" "" "" "cataract"
"0000324531" "00296" "00434173" "00006" "Familial, autosomal dominant" "" "lamellar cataract; no microphthalmia; no microcornea; no iris malformations" "" "" "" "" "" "" "" "" "cataract"
"0000324532" "00296" "00434174" "00006" "Familial, autosomal dominant" "" "cataract; no microphthalmia; no microcornea; no iris malformations" "" "" "" "" "" "" "" "" "cataract"
"0000353529" "00296" "00468377" "00006" "Familial, autosomal dominant" "26.2y" "see paper; ..., cataract; nystagmus; high myopia; 15.0y-surgery" "" "" "" "" "" "" "" "CTRCT19" "cataract"
"0000353530" "00296" "00468378" "00006" "Familial, autosomal dominant" "0.6y" "see paper; ..., nuclear cataract; nystagmus; high myopia; 0.5y-surgery" "" "" "" "" "" "" "" "CTRCT19" "cataract"
## Screenings ## Do not remove or alter this header ##
## Count = 6
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000435561" "00434094" "1" "00006" "00006" "2023-03-19 16:52:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000435640" "00434172" "1" "00006" "00006" "2023-03-21 17:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000435641" "00434173" "1" "00006" "00006" "2023-03-21 17:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000435642" "00434174" "1" "00006" "00006" "2023-03-21 17:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000470043" "00468377" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000470044" "00468378" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 0
## 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 = 20
"{{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}}"
"0000290986" "0" "50" "19" "51890535" "51890535" "subst" "3.25005E-5" "01943" "LIM2_000007" "g.51890535T>C" "" "" "" "LIM2(NM_030657.3):c.163A>G (p.T55A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51387281T>C" "" "VUS" ""
"0000290987" "0" "30" "19" "51885775" "51885775" "subst" "7.31351E-5" "01943" "LIM2_000006" "g.51885775G>A" "" "" "" "LIM2(NM_030657.3):c.348C>T (p.C116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51382521G>A" "" "likely benign" ""
"0000290988" "0" "50" "19" "51885751" "51885751" "subst" "8.12236E-6" "01943" "LIM2_000005" "g.51885751G>A" "" "" "" "LIM2(NM_030657.3):c.372C>T (p.G124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51382497G>A" "" "VUS" ""
"0000290989" "0" "50" "19" "51885717" "51885717" "subst" "0.00020713" "01943" "LIM2_000004" "g.51885717G>A" "" "" "" "LIM2(NM_030657.3):c.406C>T (p.R136C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51382463G>A" "" "VUS" ""
"0000290990" "0" "10" "19" "51883882" "51883882" "subst" "0.00174477" "01943" "LIM2_000002" "g.51883882C>T" "" "" "" "LIM2(NM_030657.3):c.463G>A (p.V155M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51380628C>T" "" "benign" ""
"0000290991" "0" "30" "19" "51883882" "51883882" "subst" "0.000215554" "01943" "LIM2_000003" "g.51883882C>G" "" "" "" "LIM2(NM_030657.3):c.463G>C (p.V155L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51380628C>G" "" "likely benign" ""
"0000290992" "0" "30" "19" "51883862" "51883862" "subst" "2.43803E-5" "01943" "LIM2_000001" "g.51883862G>A" "" "" "" "LIM2(NM_030657.3):c.483C>T (p.Y161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51380608G>A" "" "likely benign" ""
"0000568291" "0" "30" "19" "51890473" "51890473" "subst" "0.000524224" "01943" "LIM2_000008" "g.51890473C>T" "" "" "" "LIM2(NM_030657.3):c.225G>A (p.A75=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51387219C>T" "" "likely benign" ""
"0000568292" "0" "10" "19" "51890512" "51890512" "subst" "0.00173144" "01943" "LIM2_000009" "g.51890512G>A" "" "" "" "LIM2(NM_030657.3):c.186C>T (p.P62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51387258G>A" "" "benign" ""
"0000617838" "0" "50" "19" "51883477" "51883477" "subst" "2.05802E-5" "01943" "LIM2_000010" "g.51883477C>T" "" "" "" "LIM2(NM_030657.3):c.626G>A (p.R209Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51380223C>T" "" "VUS" ""
"0000617839" "0" "50" "19" "51883529" "51883531" "del" "0" "01943" "LIM2_000011" "g.51883529_51883531del" "" "" "" "LIM2(NM_030657.3):c.587-10_587-8delTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51380275_51380277del" "" "VUS" ""
"0000727505" "0" "50" "19" "51885684" "51885684" "del" "0" "02329" "LIM2_000012" "g.51885684del" "" "" "" "LIM2(NM_030657.4):c.445delT (p.S149Pfs*43)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000809022" "0" "50" "19" "51890480" "51890480" "subst" "1.21878E-5" "01943" "LIM2_000013" "g.51890480C>T" "" "" "" "LIM2(NM_030657.3):c.218G>A (p.S73N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000809023" "0" "30" "19" "51890641" "51890641" "subst" "0.000991531" "01943" "LIM2_000014" "g.51890641C>T" "" "" "" "LIM2(NM_030657.3):c.57G>A (p.L19=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000921561" "1" "50" "19" "51890568" "51890568" "subst" "6.09632E-5" "00006" "LIM2_000017" "g.51890568G>A" "" "{PMID:Li 2016:27307692}" "" "" "" "Germline" "" "" "0" "" "" "g.51387314G>A" "" "VUS" ""
"0000921801" "11" "70" "19" "51883831" "51883831" "subst" "0" "00006" "LIM2_000015" "g.51883831G>A" "" "{PMID:Fernandez-Alcalde 2021:33923544}" "" "" "" "Germline" "" "" "0" "" "" "g.51380577G>A" "" "likely pathogenic (dominant)" ""
"0000921802" "11" "70" "19" "51883831" "51883831" "subst" "0" "00006" "LIM2_000015" "g.51883831G>A" "" "{PMID:Fernandez-Alcalde 2021:33923544}" "" "" "" "Germline" "" "" "0" "" "" "g.51380577G>A" "" "likely pathogenic (dominant)" ""
"0000921803" "21" "50" "19" "51883834" "51883834" "subst" "1.21863E-5" "00006" "LIM2_000016" "g.51883834G>A" "" "{PMID:Fernandez-Alcalde 2021:33923544}" "" "" "" "Germline" "" "" "0" "" "" "g.51380580G>A" "" "VUS" ""
"0001058124" "0" "70" "19" "51883831" "51883831" "subst" "0" "00006" "LIM2_000015" "g.51883831G>A" "" "{PMID:Guo 2025:40449652}" "" "NM_001161748.1:c.388C>T" "" "Germline" "" "" "0" "" "" "g.51380577G>A" "" "likely pathogenic (dominant)" ""
"0001058125" "0" "70" "19" "51883831" "51883831" "subst" "0" "00006" "LIM2_000015" "g.51883831G>A" "" "{PMID:Guo 2025:40449652}" "" "NM_001161748.1:c.388C>T" "" "Germline" "" "" "0" "" "" "g.51380577G>A" "" "likely pathogenic (dominant)" ""
## 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 LIM2
## Count = 34
"{{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}}"
"0000290986" "00011140" "50" "163" "0" "163" "0" "c.163A>G" "r.(?)" "p.(Thr55Ala)" ""
"0000290986" "00025824" "50" "163" "0" "163" "0" "c.163A>G" "r.(?)" "p.(Thr55Ala)" ""
"0000290987" "00011140" "30" "348" "0" "348" "0" "c.348C>T" "r.(?)" "p.(Cys116=)" ""
"0000290987" "00025824" "30" "222" "0" "222" "0" "c.222C>T" "r.(?)" "p.(Cys74=)" ""
"0000290988" "00011140" "50" "372" "0" "372" "0" "c.372C>T" "r.(?)" "p.(Gly124=)" ""
"0000290988" "00025824" "50" "246" "0" "246" "0" "c.246C>T" "r.(?)" "p.(Gly82=)" ""
"0000290989" "00011140" "50" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Arg136Cys)" ""
"0000290989" "00025824" "50" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Arg94Cys)" ""
"0000290990" "00011140" "10" "463" "0" "463" "0" "c.463G>A" "r.(?)" "p.(Val155Met)" ""
"0000290990" "00025824" "10" "337" "0" "337" "0" "c.337G>A" "r.(?)" "p.(Val113Met)" ""
"0000290991" "00011140" "30" "463" "0" "463" "0" "c.463G>C" "r.(?)" "p.(Val155Leu)" ""
"0000290991" "00025824" "30" "337" "0" "337" "0" "c.337G>C" "r.(?)" "p.(Val113Leu)" ""
"0000290992" "00011140" "30" "483" "0" "483" "0" "c.483C>T" "r.(?)" "p.(Tyr161=)" ""
"0000290992" "00025824" "30" "357" "0" "357" "0" "c.357C>T" "r.(?)" "p.(Tyr119=)" ""
"0000568291" "00011140" "30" "225" "0" "225" "0" "c.225G>A" "r.(?)" "p.(Ala75=)" ""
"0000568291" "00025824" "30" "175" "50" "175" "50" "c.175+50G>A" "r.(=)" "p.(=)" ""
"0000568292" "00011140" "10" "186" "0" "186" "0" "c.186C>T" "r.(?)" "p.(Pro62=)" ""
"0000568292" "00025824" "10" "175" "11" "175" "11" "c.175+11C>T" "r.(=)" "p.(=)" ""
"0000617838" "00011140" "50" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209Gln)" ""
"0000617838" "00025824" "50" "500" "0" "500" "0" "c.500G>A" "r.(?)" "p.(Arg167Gln)" ""
"0000617839" "00011140" "50" "587" "-10" "587" "-8" "c.587-10_587-8del" "r.(=)" "p.(=)" ""
"0000617839" "00025824" "50" "461" "-10" "461" "-8" "c.461-10_461-8del" "r.(=)" "p.(=)" ""
"0000727505" "00011140" "50" "445" "0" "445" "0" "c.445del" "r.(?)" "p.(Ser149Profs*43)" ""
"0000727505" "00025824" "50" "319" "0" "319" "0" "c.319del" "r.(?)" "p.(Ser107Profs*43)" ""
"0000809022" "00011140" "50" "218" "0" "218" "0" "c.218G>A" "r.(?)" "p.(Ser73Asn)" ""
"0000809022" "00025824" "50" "175" "43" "175" "43" "c.175+43G>A" "r.(=)" "p.(=)" ""
"0000809023" "00011140" "30" "57" "0" "57" "0" "c.57G>A" "r.(?)" "p.(Leu19=)" ""
"0000809023" "00025824" "30" "57" "0" "57" "0" "c.57G>A" "r.(?)" "p.(Leu19=)" ""
"0000921561" "00011140" "50" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Arg44Trp)" ""
"0000921801" "00011140" "70" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130Cys)" ""
"0000921802" "00011140" "70" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130Cys)" ""
"0000921803" "00011140" "50" "385" "0" "385" "0" "c.385C>T" "r.(?)" "p.(Arg129Cys)" ""
"0001058124" "00025824" "70" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130Cys)" ""
"0001058125" "00025824" "70" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130Cys)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}" "{{variantid}}"
"0000435561" "0000921561"
"0000435640" "0000921801"
"0000435641" "0000921802"
"0000435642" "0000921803"
"0000470043" "0001058124"
"0000470044" "0001058125"