### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = LRIT3)
# 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}}"
"LRIT3" "leucine-rich repeat, immunoglobulin-like and transmembrane domains 3" "4" "q25" "unknown" "NC_000004.11" "UD_139575403182" "" "https://www.LOVD.nl/LRIT3" "" "1" "24783" "345193" "615004" "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" "http://databases.lovd.nl/shared/refseq/LRIT3_codingDNA.html" "1" "" "" "-1" "" "-1" "00006" "2013-02-11 00:00:00" "00006" "2021-03-16 17:31:39" "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}}"
"00024000" "LRIT3" "leucine-rich repeat, immunoglobulin-like and transmembrane domains 3" "001" "NM_198506.4" "" "NP_940908.3" "" "" "" "-18" "3566" "2040" "109848184" "109872315" "00006" "2014-12-28 10:12:17" "" ""
## 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"
"03819" "CSNB1F" "blindness, night, stationary, congenital, type 1F (CSNB1F)" "AR" "615058" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-03-16 17:30:33"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"05130" "CSNB" "blindness, night, stationary, congenital (CSNB)" "" "" "" "" "" "00006" "2016-02-03 23:24:36" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"LRIT3" "03819"
"LRIT3" "05130"
## Individuals ## Do not remove or alter this header ##
## Count = 9
"{{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}}"
"00100098" "" "" "" "1" "" "01769" "{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}, {PMID:Li 2017:28418496}" "" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "PKRD176;61176"
"00143966" "" "" "" "1" "" "01780" "{PMID:Xu 2014:24938718}" "" "M" "yes" "China" "" "0" "" "" "Chinese" ""
"00246591" "" "" "" "1" "" "00006" "{PMID:Zeitz 2013:23246293}" "2-generation family, 1 affected, unaffected heterozygous carrier father/relative" "F" "no" "United States" "" "0" "" "" "" "FamA"
"00246592" "" "" "" "1" "" "00006" "{PMID:Zeitz 2013:23246293}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "no" "France" "" "0" "" "" "" "FamB"
"00246593" "" "" "" "1" "" "00006" "{PMID:Zeitz 2015:25307992}, {DOI:Zeitz 2015:0.1016/j.preteyeres.2014.09.001}" "" "" "" "United States" "" "0" "" "" "" "patient"
"00293516" "" "" "" "16" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00304973" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00358872" "" "" "" "1" "" "00006" "{PMID:Dan 2016:27428514}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "China" "" "0" "" "" "" "patient"
"00375405" "" "" "" "1" "" "00000" "{PMID:Zeitz 2015:25307992}" "" "" "" "United States" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 9
"{{individualid}}" "{{diseaseid}}"
"00100098" "04214"
"00143966" "04214"
"00246591" "05130"
"00246592" "05130"
"00246593" "05130"
"00293516" "00198"
"00304973" "00198"
"00358872" "05130"
"00375405" "04214"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 03819, 04214, 05130
## Count = 6
"{{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}}"
"0000116744" "04214" "00143966" "01780" "Familial, autosomal recessive" "" "Age examination 30: first symptom: poor vision, night blindness; visual acuity OD/OS: 0,3/0,4, fundus exam.: attenuated retinal arteries, pigment deposit, no foveal reflex" "13y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000186448" "05130" "00246591" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CSNB-1F" "congenital stationary night blindness" ""
"0000186449" "05130" "00246592" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CSNB-1F" "congenital stationary night blindness" ""
"0000186450" "05130" "00246593" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CSNB-1F" "congenital stationary night blindness" ""
"0000254130" "05130" "00358872" "00006" "Familial, autosomal recessive" "" "see paper; ..., Schubert-Bornschein congenital stationary night blindness" "" "" "" "" "" "" "" "" "" "Schubert-Bornschein congenital stationary night blindness" ""
"0000270619" "04214" "00375405" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" ""
## Screenings ## Do not remove or alter this header ##
## Count = 9
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000100502" "00100098" "1" "01769" "01769" "2017-01-30 18:48:35" "" "" "SEQ" "DNA" "WBC" ""
"0000144825" "00143966" "1" "01780" "00006" "2017-11-28 22:45:32" "" "" "SEQ-NG-I" "DNA" "" ""
"0000247703" "00246591" "1" "00006" "00006" "2019-07-14 13:03:07" "" "" "SEQ" "DNA" "" "WES"
"0000247704" "00246592" "1" "00006" "00006" "2019-07-14 13:07:17" "" "" "SEQ" "DNA" "" ""
"0000247705" "00246593" "1" "00006" "00006" "2019-07-14 13:11:50" "" "" "SEQ" "DNA" "" "gene panel"
"0000294684" "00293516" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000306102" "00304973" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000360104" "00358872" "1" "00006" "00006" "2021-03-16 17:35:01" "" "" "SEQ" "DNA" "" "LRIT3, CABP4, GPR179 genes"
"0000376602" "00375405" "1" "00000" "00006" "2021-06-03 10:21:34" "" "" "SEQ" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}" "{{geneid}}"
"0000100502" "FAM161A"
"0000144825" "EYS"
"0000247703" "LRIT3"
"0000247704" "LRIT3"
"0000247705" "LRIT3"
"0000376602" "LRIT3"
## 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 = 62
"{{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}}"
"0000246234" "0" "10" "4" "110791087" "110791087" "subst" "0.00373344" "02330" "LRIT3_000007" "g.110791087A>G" "" "" "" "LRIT3(NM_198506.4):c.1182A>G (p.T394=), LRIT3(NM_198506.5):c.1182A>G (p.T394=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109869931A>G" "" "benign" ""
"0000246288" "0" "50" "4" "110772925" "110772925" "subst" "5.93918E-5" "02330" "LRIT3_000012" "g.110772925A>G" "" "" "" "LRIT3(NM_198506.5):c.382A>G (p.M128V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109851769A>G" "" "VUS" ""
"0000254326" "0" "30" "4" "110772947" "110772947" "subst" "0.000600034" "01943" "LRIT3_000004" "g.110772947A>T" "" "" "" "LRIT3(NM_198506.4):c.404A>T (p.D135V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109851791A>T" "" "likely benign" ""
"0000255929" "0" "50" "4" "110791350" "110791350" "subst" "0.000907293" "01943" "LRIT3_000010" "g.110791350A>C" "" "" "" "LRIT3(NM_198506.4):c.1445A>C (p.E482A), LRIT3(NM_198506.5):c.1445A>C (p.E482A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109870194A>C" "" "VUS" ""
"0000279464" "0" "30" "4" "110790951" "110790951" "subst" "0.00016666" "02330" "LRIT3_000015" "g.110790951C>T" "" "" "" "LRIT3(NM_198506.4):c.1046C>T (p.T349I), LRIT3(NM_198506.5):c.1046C>T (p.T349I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109869795C>T" "" "likely benign" ""
"0000279465" "0" "50" "4" "110791173" "110791173" "subst" "8.16187E-6" "02330" "LRIT3_000008" "g.110791173C>A" "" "" "" "LRIT3(NM_198506.5):c.1268C>A (p.T423N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109870017C>A" "" "VUS" ""
"0000279466" "0" "10" "4" "110791222" "110791222" "subst" "0.00130224" "02330" "LRIT3_000009" "g.110791222G>A" "" "" "" "LRIT3(NM_198506.5):c.1317G>A (p.K439=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109870066G>A" "" "benign" ""
"0000279467" "0" "10" "4" "110791360" "110791360" "subst" "0.00147313" "02330" "LRIT3_000011" "g.110791360C>T" "" "" "" "LRIT3(NM_198506.5):c.1455C>T (p.A485=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109870204C>T" "" "benign" ""
"0000279468" "0" "50" "4" "110772820" "110772820" "subst" "3.96705E-5" "02330" "LRIT3_000003" "g.110772820G>A" "" "" "" "LRIT3(NM_198506.4):c.277G>A (p.V93M), LRIT3(NM_198506.5):c.277G>A (p.V93M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109851664G>A" "" "VUS" ""
"0000279469" "0" "50" "4" "110772986" "110772986" "subst" "0.000112202" "02330" "LRIT3_000013" "g.110772986C>T" "" "" "" "LRIT3(NM_198506.5):c.443C>T (p.A148V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109851830C>T" "" "VUS" ""
"0000279470" "0" "10" "4" "110773141" "110773141" "subst" "0.000207089" "02330" "LRIT3_000005" "g.110773141G>A" "" "" "" "LRIT3(NM_198506.5):c.589+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109851985G>A" "" "benign" ""
"0000291109" "0" "30" "4" "110791234" "110791234" "subst" "0.000667193" "01943" "LRIT3_000016" "g.110791234G>A" "" "" "" "LRIT3(NM_198506.4):c.1329G>A (p.Q443=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109870078G>A" "" "likely benign" ""
"0000291110" "0" "10" "4" "110772765" "110772765" "subst" "0.00357986" "01943" "LRIT3_000002" "g.110772765G>A" "" "" "" "LRIT3(NM_198506.4):c.222G>A (p.A74=), LRIT3(NM_198506.5):c.222G>A (p.A74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109851609G>A" "" "benign" ""
"0000291111" "0" "50" "4" "110772820" "110772820" "subst" "3.96705E-5" "01943" "LRIT3_000003" "g.110772820G>A" "" "" "" "LRIT3(NM_198506.4):c.277G>A (p.V93M), LRIT3(NM_198506.5):c.277G>A (p.V93M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109851664G>A" "" "VUS" ""
"0000291112" "0" "30" "4" "110769387" "110769387" "subst" "0.00015949" "01943" "LRIT3_000001" "g.110769387C>A" "" "" "" "LRIT3(NM_198506.4):c.30C>A (p.V10=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109848231C>A" "" "likely benign" ""
"0000291113" "0" "90" "4" "110789068" "110789068" "subst" "0" "01943" "LRIT3_000014" "g.110789068G>A" "" "" "" "LRIT3(NM_198506.4):c.861G>A (p.W287*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109867912G>A" "" "pathogenic" ""
"0000291114" "0" "50" "4" "110790878" "110790878" "subst" "0" "01943" "LRIT3_000006" "g.110790878G>T" "" "" "" "LRIT3(NM_198506.4):c.973G>T (p.D325Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109869722G>T" "" "VUS" ""
"0000500570" "11" "90" "4" "110790888" "110790888" "subst" "2.44559E-5" "00006" "LRIT3_000017" "g.110790888G>A" "" "{PMID:Zeitz 2013:23246293}" "" "" "" "Germline" "" "" "0" "" "" "g.109869732G>A" "" "pathogenic (recessive)" ""
"0000500571" "20" "90" "4" "110791223" "110791223" "subst" "8.13809E-6" "00006" "LRIT3_000018" "g.110791223C>T" "" "{PMID:Zeitz 2013:23246293}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.109870067C>T" "" "pathogenic (recessive)" ""
"0000500572" "21" "90" "4" "110791056" "110791056" "subst" "4.06342E-6" "00006" "LRIT3_000019" "g.110791056C>G" "" "{PMID:Zeitz 2013:23246293}" "" "" "" "Germline" "" "" "0" "" "" "g.109869900C>G" "" "pathogenic (recessive)" ""
"0000500573" "11" "90" "4" "110791443" "110791444" "del" "0" "00006" "LRIT3_000020" "g.110791443_110791444del" "" "{PMID:Zeitz 2013:23246293}" "" "" "" "Germline" "" "" "0" "" "" "g.109870287_109870288del" "" "pathogenic (recessive)" ""
"0000500574" "3" "90" "4" "110772888" "110772888" "subst" "6.61026E-6" "00006" "LRIT3_000021" "g.110772888T>A" "" "{PMID:Zeitz 2013:23246293}" "" "" "" "Germline" "" "" "0" "" "" "g.109851732T>A" "" "pathogenic (recessive)" ""
"0000521179" "0" "30" "4" "110772650" "110772650" "subst" "8.17688E-6" "02330" "LRIT3_000022" "g.110772650G>T" "" "" "" "LRIT3(NM_198506.5):c.117-10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109851494G>T" "" "likely benign" ""
"0000521180" "0" "10" "4" "110772701" "110772701" "subst" "0.000586421" "02330" "LRIT3_000023" "g.110772701C>T" "" "" "" "LRIT3(NM_198506.4):c.158C>T (p.T53M), LRIT3(NM_198506.5):c.158C>T (p.T53M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109851545C>T" "" "benign" ""
"0000521181" "0" "30" "4" "110772796" "110772796" "subst" "1.3213E-5" "01804" "LRIT3_000024" "g.110772796T>C" "" "" "" "LRIT3(NM_198506.4):c.253T>C (p.(Tyr85His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109851640T>C" "" "likely benign" ""
"0000521182" "0" "30" "4" "110772874" "110772874" "subst" "0.0288437" "01804" "LRIT3_000025" "g.110772874C>G" "" "" "" "LRIT3(NM_198506.4):c.331C>G (p.(Arg111Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109851718C>G" "" "likely benign" ""
"0000521183" "0" "50" "4" "110772922" "110772922" "subst" "0.00139923" "02330" "LRIT3_000026" "g.110772922G>T" "" "" "" "LRIT3(NM_198506.5):c.379G>T (p.D127Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109851766G>T" "" "VUS" ""
"0000521184" "0" "30" "4" "110773106" "110773106" "subst" "2.02547E-5" "01804" "LRIT3_000027" "g.110773106A>G" "" "" "" "LRIT3(NM_198506.4):c.563A>G (p.(Asp188Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109851950A>G" "" "likely benign" ""
"0000521185" "0" "30" "4" "110773108" "110773108" "subst" "0.0288488" "01804" "LRIT3_000028" "g.110773108C>T" "" "" "" "LRIT3(NM_198506.4):c.565C>T (p.(Leu189Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109851952C>T" "" "likely benign" ""
"0000521186" "0" "10" "4" "110791526" "110791526" "subst" "0.00514068" "02330" "LRIT3_000029" "g.110791526A>G" "" "" "" "LRIT3(NM_198506.4):c.1621A>G (p.I541V), LRIT3(NM_198506.5):c.1621A>G (p.I541V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109870370A>G" "" "benign" ""
"0000521187" "0" "30" "4" "110791526" "110791526" "subst" "0.00514068" "01943" "LRIT3_000029" "g.110791526A>G" "" "" "" "LRIT3(NM_198506.4):c.1621A>G (p.I541V), LRIT3(NM_198506.5):c.1621A>G (p.I541V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109870370A>G" "" "likely benign" ""
"0000521188" "0" "50" "4" "110791544" "110791544" "subst" "0.000105772" "02330" "LRIT3_000030" "g.110791544G>A" "" "" "" "LRIT3(NM_198506.5):c.1639G>A (p.G547S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109870388G>A" "" "VUS" ""
"0000521189" "0" "30" "4" "110791657" "110791659" "del" "0" "02330" "LRIT3_000031" "g.110791657_110791659del" "" "" "" "LRIT3(NM_198506.4):c.1752_1754delTCT (p.L585del), LRIT3(NM_198506.5):c.1752_1754del (p.(Leu585del)), LRIT3(NM_198506.5):c.1752_1754delTCT (p.L585del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109870501_109870503del" "" "likely benign" ""
"0000608974" "0" "30" "4" "110772820" "110772820" "subst" "3.96705E-5" "02327" "LRIT3_000003" "g.110772820G>A" "" "" "" "LRIT3(NM_198506.4):c.277G>A (p.V93M), LRIT3(NM_198506.5):c.277G>A (p.V93M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109851664G>A" "" "likely benign" ""
"0000608975" "0" "50" "4" "110790951" "110790951" "subst" "0.00016666" "01943" "LRIT3_000015" "g.110790951C>T" "" "" "" "LRIT3(NM_198506.4):c.1046C>T (p.T349I), LRIT3(NM_198506.5):c.1046C>T (p.T349I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109869795C>T" "" "VUS" ""
"0000608976" "0" "30" "4" "110791544" "110791544" "subst" "0.000105772" "02327" "LRIT3_000030" "g.110791544G>A" "" "" "" "LRIT3(NM_198506.5):c.1639G>A (p.G547S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109870388G>A" "" "likely benign" ""
"0000621336" "0" "50" "4" "110772994" "110772994" "subst" "0" "01943" "LRIT3_000032" "g.110772994T>C" "" "" "" "LRIT3(NM_198506.4):c.451T>C (p.Y151H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109851838T>C" "" "VUS" ""
"0000651373" "1" "30" "4" "110791526" "110791526" "subst" "0.00514068" "03575" "LRIT3_000029" "g.110791526A>G" "16/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "16 heterozygous; {DB:CLININrs35997283}" "Germline" "" "rs35997283" "0" "" "" "g.109870370A>G" "" "likely benign" ""
"0000655066" "0" "50" "4" "110790962" "110790962" "subst" "2.03181E-5" "01943" "LRIT3_000033" "g.110790962A>G" "" "" "" "LRIT3(NM_198506.4):c.1057A>G (p.I353V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109869806A>G" "" "VUS" ""
"0000655067" "0" "30" "4" "110791087" "110791087" "subst" "0.00373344" "01943" "LRIT3_000007" "g.110791087A>G" "" "" "" "LRIT3(NM_198506.4):c.1182A>G (p.T394=), LRIT3(NM_198506.5):c.1182A>G (p.T394=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109869931A>G" "" "likely benign" ""
"0000655068" "0" "30" "4" "110791573" "110791573" "subst" "1.22041E-5" "01943" "LRIT3_000034" "g.110791573A>G" "" "" "" "LRIT3(NM_198506.4):c.1668A>G (p.P556=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109870417A>G" "" "likely benign" ""
"0000669790" "3" "30" "4" "110791526" "110791526" "subst" "0.00514068" "03575" "LRIT3_000029" "g.110791526A>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs35997283}" "Germline" "" "rs35997283" "0" "" "" "g.109870370A>G" "" "likely benign" ""
"0000677152" "0" "30" "4" "110790871" "110790871" "subst" "6.19968E-5" "01943" "LRIT3_000035" "g.110790871C>T" "" "" "" "LRIT3(NM_198506.4):c.966C>T (p.D322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000689191" "0" "50" "4" "110772995" "110772995" "subst" "9.90138E-5" "01943" "LRIT3_000036" "g.110772995A>G" "" "" "" "LRIT3(NM_198506.4):c.452A>G (p.Y151C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000719695" "0" "50" "4" "110791657" "110791659" "del" "0" "01943" "LRIT3_000031" "g.110791657_110791659del" "" "" "" "LRIT3(NM_198506.4):c.1752_1754delTCT (p.L585del), LRIT3(NM_198506.5):c.1752_1754del (p.(Leu585del)), LRIT3(NM_198506.5):c.1752_1754delTCT (p.L585del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000735189" "3" "30" "4" "110772711" "110772711" "subst" "0.0450485" "00000" "LRIT3_000037" "g.110772711C>T" "" "{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}" "" "" "" "Germline" "" "rs17040904" "0" "" "" "g.109851555C>T" "" "likely benign" ""
"0000759805" "11" "90" "4" "110769358" "110769358" "subst" "0.000160462" "00006" "LRIT3_000038" "g.110769358A>G" "" "{PMID:Dan 2016:27428514}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000759806" "21" "90" "4" "110788815" "110788815" "subst" "0" "00006" "LRIT3_000039" "g.110788815G>T" "" "{PMID:Dan 2016:27428514}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000784163" "3" "50" "4" "110772995" "110772995" "subst" "9.90138E-5" "00000" "LRIT3_000036" "g.110772995A>G" "1/314" "{PMID:Xu 2015:25999675}" "" "" "" "Germline" "" "" "0" "" "" "g.109851839A>G" "" "VUS" ""
"0000788237" "1" "70" "4" "110772888" "110772888" "subst" "6.61026E-6" "00000" "LRIT3_000021" "g.110772888T>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "no genotype reported" "Germline" "" "" "0" "" "" "g.109851732T>A" "" "likely pathogenic" ""
"0000801459" "0" "30" "4" "110790856" "110790856" "subst" "0" "01943" "LRIT3_000040" "g.110790856C>T" "" "" "" "LRIT3(NM_198506.4):c.951C>T (p.G317=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000801460" "0" "10" "4" "110791131" "110791131" "subst" "0.000987884" "02330" "LRIT3_000041" "g.110791131C>T" "" "" "" "LRIT3(NM_198506.5):c.1226C>T (p.S409F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000850478" "0" "30" "4" "110772701" "110772701" "subst" "0.000586421" "01943" "LRIT3_000023" "g.110772701C>T" "" "" "" "LRIT3(NM_198506.4):c.158C>T (p.T53M), LRIT3(NM_198506.5):c.158C>T (p.T53M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000850479" "0" "30" "4" "110772987" "110772987" "subst" "1.98033E-5" "02330" "LRIT3_000042" "g.110772987G>A" "" "" "" "LRIT3(NM_198506.5):c.444G>A (p.A148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000850480" "0" "50" "4" "110789102" "110789102" "subst" "6.68991E-5" "01943" "LRIT3_000044" "g.110789102G>C" "" "" "" "LRIT3(NM_198506.4):c.895G>C (p.V299L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000859208" "0" "30" "4" "110773032" "110773032" "subst" "0" "01943" "LRIT3_000043" "g.110773032C>T" "" "" "" "LRIT3(NM_198506.4):c.489C>T (p.N163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000859209" "0" "30" "4" "110791018" "110791018" "subst" "1.21886E-5" "02330" "LRIT3_000045" "g.110791018G>A" "" "" "" "LRIT3(NM_198506.5):c.1113G>A (p.P371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000886085" "0" "30" "4" "110791350" "110791350" "subst" "0.000907293" "02330" "LRIT3_000010" "g.110791350A>C" "" "" "" "LRIT3(NM_198506.4):c.1445A>C (p.E482A), LRIT3(NM_198506.5):c.1445A>C (p.E482A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000948242" "0" "30" "4" "110772765" "110772765" "subst" "0.00357986" "02330" "LRIT3_000002" "g.110772765G>A" "" "" "" "LRIT3(NM_198506.4):c.222G>A (p.A74=), LRIT3(NM_198506.5):c.222G>A (p.A74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000994007" "0" "50" "4" "110769358" "110769358" "subst" "0.000160462" "02329" "LRIT3_000038" "g.110769358A>G" "" "" "" "LRIT3(NM_198506.5):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000994008" "0" "70" "4" "110791682" "110791683" "del" "0" "02329" "LRIT3_000046" "g.110791682_110791683del" "" "" "" "LRIT3(NM_198506.5):c.1777_1778delGT (p.V593Cfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001051811" "0" "50" "4" "110791657" "110791659" "del" "0" "01804" "LRIT3_000031" "g.110791657_110791659del" "" "" "" "LRIT3(NM_198506.4):c.1752_1754delTCT (p.L585del), LRIT3(NM_198506.5):c.1752_1754del (p.(Leu585del)), LRIT3(NM_198506.5):c.1752_1754delTCT (p.L585del)" "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 LRIT3
## Count = 62
"{{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}}"
"0000246234" "00024000" "10" "1182" "0" "1182" "0" "c.1182A>G" "r.(?)" "p.(Thr394=)" ""
"0000246288" "00024000" "50" "382" "0" "382" "0" "c.382A>G" "r.(?)" "p.(Met128Val)" ""
"0000254326" "00024000" "30" "404" "0" "404" "0" "c.404A>T" "r.(?)" "p.(Asp135Val)" ""
"0000255929" "00024000" "50" "1445" "0" "1445" "0" "c.1445A>C" "r.(?)" "p.(Glu482Ala)" ""
"0000279464" "00024000" "30" "1046" "0" "1046" "0" "c.1046C>T" "r.(?)" "p.(Thr349Ile)" ""
"0000279465" "00024000" "50" "1268" "0" "1268" "0" "c.1268C>A" "r.(?)" "p.(Thr423Asn)" ""
"0000279466" "00024000" "10" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Lys439=)" ""
"0000279467" "00024000" "10" "1455" "0" "1455" "0" "c.1455C>T" "r.(?)" "p.(Ala485=)" ""
"0000279468" "00024000" "50" "277" "0" "277" "0" "c.277G>A" "r.(?)" "p.(Val93Met)" ""
"0000279469" "00024000" "50" "443" "0" "443" "0" "c.443C>T" "r.(?)" "p.(Ala148Val)" ""
"0000279470" "00024000" "10" "589" "9" "589" "9" "c.589+9G>A" "r.(=)" "p.(=)" ""
"0000291109" "00024000" "30" "1329" "0" "1329" "0" "c.1329G>A" "r.(?)" "p.(Gln443=)" ""
"0000291110" "00024000" "10" "222" "0" "222" "0" "c.222G>A" "r.(?)" "p.(Ala74=)" ""
"0000291111" "00024000" "50" "277" "0" "277" "0" "c.277G>A" "r.(?)" "p.(Val93Met)" ""
"0000291112" "00024000" "30" "30" "0" "30" "0" "c.30C>A" "r.(?)" "p.(Val10=)" ""
"0000291113" "00024000" "90" "861" "0" "861" "0" "c.861G>A" "r.(?)" "p.(Trp287Ter)" ""
"0000291114" "00024000" "50" "973" "0" "973" "0" "c.973G>T" "r.(?)" "p.(Asp325Tyr)" ""
"0000500570" "00024000" "90" "983" "0" "983" "0" "c.983G>A" "r.(?)" "p.(Cys328Tyr)" "4"
"0000500571" "00024000" "90" "1318" "0" "1318" "0" "c.1318C>T" "r.(?)" "p.(Arg440*)" "4"
"0000500572" "00024000" "90" "1151" "0" "1151" "0" "c.1151C>G" "r.(?)" "p.(Ser384*)" "4"
"0000500573" "00024000" "90" "1538" "0" "1539" "0" "c.1538_1539del" "r.(?)" "p.(Ser513Cysfs*59)" "4"
"0000500574" "00024000" "90" "345" "0" "345" "0" "c.345T>A" "r.(?)" "p.(Asn115Lys)" "1"
"0000521179" "00024000" "30" "117" "-10" "117" "-10" "c.117-10G>T" "r.(=)" "p.(=)" ""
"0000521180" "00024000" "10" "158" "0" "158" "0" "c.158C>T" "r.(?)" "p.(Thr53Met)" ""
"0000521181" "00024000" "30" "253" "0" "253" "0" "c.253T>C" "r.(?)" "p.(Tyr85His)" ""
"0000521182" "00024000" "30" "331" "0" "331" "0" "c.331C>G" "r.(?)" "p.(Arg111Gly)" ""
"0000521183" "00024000" "50" "379" "0" "379" "0" "c.379G>T" "r.(?)" "p.(Asp127Tyr)" ""
"0000521184" "00024000" "30" "563" "0" "563" "0" "c.563A>G" "r.(?)" "p.(Asp188Gly)" ""
"0000521185" "00024000" "30" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.(Leu189Phe)" ""
"0000521186" "00024000" "10" "1621" "0" "1621" "0" "c.1621A>G" "r.(?)" "p.(Ile541Val)" ""
"0000521187" "00024000" "30" "1621" "0" "1621" "0" "c.1621A>G" "r.(?)" "p.(Ile541Val)" ""
"0000521188" "00024000" "50" "1639" "0" "1639" "0" "c.1639G>A" "r.(?)" "p.(Gly547Ser)" ""
"0000521189" "00024000" "30" "1752" "0" "1754" "0" "c.1752_1754del" "r.(?)" "p.(Leu585del)" ""
"0000608974" "00024000" "30" "277" "0" "277" "0" "c.277G>A" "r.(?)" "p.(Val93Met)" ""
"0000608975" "00024000" "50" "1046" "0" "1046" "0" "c.1046C>T" "r.(?)" "p.(Thr349Ile)" ""
"0000608976" "00024000" "30" "1639" "0" "1639" "0" "c.1639G>A" "r.(?)" "p.(Gly547Ser)" ""
"0000621336" "00024000" "50" "451" "0" "451" "0" "c.451T>C" "r.(?)" "p.(Tyr151His)" ""
"0000651373" "00024000" "30" "1621" "0" "1621" "0" "c.1621A>G" "r.(?)" "p.(Ile541Val)" ""
"0000655066" "00024000" "50" "1057" "0" "1057" "0" "c.1057A>G" "r.(?)" "p.(Ile353Val)" ""
"0000655067" "00024000" "30" "1182" "0" "1182" "0" "c.1182A>G" "r.(?)" "p.(Thr394=)" ""
"0000655068" "00024000" "30" "1668" "0" "1668" "0" "c.1668A>G" "r.(?)" "p.(Pro556=)" ""
"0000669790" "00024000" "30" "1621" "0" "1621" "0" "c.1621A>G" "r.(?)" "p.(Ile541Val)" ""
"0000677152" "00024000" "30" "966" "0" "966" "0" "c.966C>T" "r.(?)" "p.(Asp322=)" ""
"0000689191" "00024000" "50" "452" "0" "452" "0" "c.452A>G" "r.(?)" "p.(Tyr151Cys)" ""
"0000719695" "00024000" "50" "1752" "0" "1754" "0" "c.1752_1754del" "r.(?)" "p.(Leu585del)" ""
"0000735189" "00024000" "30" "168" "0" "168" "0" "c.168C>T" "r.(?)" "p.(Pro56=)" ""
"0000759805" "00024000" "90" "1" "0" "1" "0" "c.1A>G" "r.?" "p.Met1?" ""
"0000759806" "00024000" "90" "608" "0" "608" "0" "c.608G>T" "r.(?)" "p.(Trp203Leu)" ""
"0000784163" "00024000" "50" "452" "0" "452" "0" "c.452A>G" "r.(?)" "p.(Tyr151Cys)" ""
"0000788237" "00024000" "70" "345" "0" "345" "0" "c.345T>A" "r.(?)" "p.(Asn115Lys)" ""
"0000801459" "00024000" "30" "951" "0" "951" "0" "c.951C>T" "r.(?)" "p.(Gly317=)" ""
"0000801460" "00024000" "10" "1226" "0" "1226" "0" "c.1226C>T" "r.(?)" "p.(Ser409Phe)" ""
"0000850478" "00024000" "30" "158" "0" "158" "0" "c.158C>T" "r.(?)" "p.(Thr53Met)" ""
"0000850479" "00024000" "30" "444" "0" "444" "0" "c.444G>A" "r.(?)" "p.(Ala148=)" ""
"0000850480" "00024000" "50" "895" "0" "895" "0" "c.895G>C" "r.(?)" "p.(Val299Leu)" ""
"0000859208" "00024000" "30" "489" "0" "489" "0" "c.489C>T" "r.(?)" "p.(Asn163=)" ""
"0000859209" "00024000" "30" "1113" "0" "1113" "0" "c.1113G>A" "r.(?)" "p.(Pro371=)" ""
"0000886085" "00024000" "30" "1445" "0" "1445" "0" "c.1445A>C" "r.(?)" "p.(Glu482Ala)" ""
"0000948242" "00024000" "30" "222" "0" "222" "0" "c.222G>A" "r.(?)" "p.(Ala74=)" ""
"0000994007" "00024000" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.?" ""
"0000994008" "00024000" "70" "1777" "0" "1778" "0" "c.1777_1778del" "r.(?)" "p.(Val593Cysfs*19)" ""
"0001051811" "00024000" "50" "1752" "0" "1754" "0" "c.1752_1754del" "r.(?)" "p.(Leu585del)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 12
"{{screeningid}}" "{{variantid}}"
"0000100502" "0000735189"
"0000144825" "0000784163"
"0000247703" "0000500570"
"0000247703" "0000500571"
"0000247704" "0000500572"
"0000247704" "0000500573"
"0000247705" "0000500574"
"0000294684" "0000651373"
"0000306102" "0000669790"
"0000360104" "0000759805"
"0000360104" "0000759806"
"0000376602" "0000788237"