### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GLIS2)
# 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}}"
"GLIS2" "GLIS family zinc finger 2" "16" "p13.3" "unknown" "NG_016391.2" "UD_132118826956" "" "https://www.LOVD.nl/GLIS2" "" "1" "29450" "84662" "608539" "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/GLIS2_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-16 00:00:00" "00006" "2020-11-20 17:42:50" "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}}"
"00008576" "GLIS2" "GLIS family zinc finger 2" "001" "NM_032575.2" "" "NP_115964.2" "" "" "" "-57" "3648" "1575" "4382225" "4389598" "" "0000-00-00 00:00:00" "" ""
## 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"
"00374" "NPHP1" "nephronophthisis, type 1" "AR" "256100" "" "" "" "00006" "2014-05-02 09:58:21" "00006" "2022-01-23 12:29:39"
"03036" "NPHP7" "nephronophthisis, type 7 (NPHP7)" "" "611498" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-11-20 17:40:42"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"GLIS2" "03036"
## Individuals ## Do not remove or alter this header ##
## Count = 7
"{{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}}"
"00046332" "" "" "" "3" "" "00006" "{PMID:Attanasio 2007:17618285}; {DOI:Attanasio 2007:10.1038/ng2072}" "5-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents" "" "yes" "Canada" "" "0" "" "" "Oji-Cree" ""
"00046333" "" "" "" "1" "" "00006" "{PMID:Halbritter 2013:23559409}; {DOI:Halbritter 2013:10.1007/s00439-013-1297-0}" "" "" "" "Turkey" "" "0" "" "" "" ""
"00291462" "" "" "" "16" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00291463" "" "" "" "35" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00291464" "" "" "" "44" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00304513" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00407661" "" "" "" "1" "" "00000" "{PMID:Kang 2016:27491411}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "J-79"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 7
"{{individualid}}" "{{diseaseid}}"
"00046332" "00374"
"00046333" "00374"
"00291462" "00198"
"00291463" "00198"
"00291464" "00198"
"00304513" "00198"
"00407661" "04214"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00374, 03036, 04214
## Count = 3
"{{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}}"
"0000034227" "00374" "00046332" "00006" "Familial, autosomal recessive" "" "see paper; end stage kidney disease by 8y, renal transplantation, ..." "" "" "" "" "" "" "" "" "" "" ""
"0000034228" "00374" "00046333" "00006" "Isolated (sporadic)" "" "15y end stage renal disease, no extrarenal manifestations" "" "" "" "" "" "" "" "" "" "" ""
"0000299808" "04214" "00407661" "00000" "Familial, autosomal recessive" "" "chronic kidney disease, extra-renal manifestations: none" "" "" "" "" "" "" "" "" "nephronophthisis-related ciliopathy" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 7
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000046437" "00046332" "1" "00006" "00006" "2015-07-06 13:05:48" "" "" "arraySNP;SEQ" "DNA" "" ""
"0000046438" "00046333" "1" "00006" "00006" "2015-07-06 13:17:19" "" "" "SEQ" "DNA" "" ""
"0000292630" "00291462" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000292631" "00291463" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000292632" "00291464" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000305642" "00304513" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000408913" "00407661" "1" "00000" "03840" "2022-04-07 15:22:18" "" "" "SEQ-NG-I" "DNA" "" "targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}" "{{geneid}}"
"0000046437" "GLIS2"
"0000046438" "GLIS2"
"0000408913" "GLIS2"
## 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 = 59
"{{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}}"
"0000073961" "3" "90" "16" "4385395" "4385395" "subst" "0" "00006" "GLIS2_000001" "g.4385395G>T" "" "{PMID:Attanasio 2007:17618285}; {DOI:Attanasio 2007:10.1038/ng2072}, {OMIM608539:0001}" "" "IVS5+1G>T" "not in 188 control chromosomes; localized by homozygosity mapping" "Germline" "yes" "" "0" "" "" "g.4335394G>T" "" "pathogenic" ""
"0000073962" "3" "70" "16" "4385061" "4385061" "subst" "0" "00006" "GLIS2_000002" "g.4385061T>C" "" "{PMID:Halbritter 2013:23559409}; {DOI:Halbritter 2013:10.1007/s00439-013-1297-0}, {OMIM608539:0002}" "" "" "might affect splicing" "Germline" "yes" "rs587777353" "0" "" "" "g.4335060T>C" "" "likely pathogenic" ""
"0000075165" "0" "70" "16" "4385061" "4385061" "subst" "0" "01366" "GLIS2_000002" "g.4385061T>C" "" "" "" "" "characterization of GLIS2 c.523T>C (p.C175R) by Halbritter shows C175R interferes with GLIS2 nuclear localization" "Unknown" "" "rs587777353" "0" "" "" "g.4335060T>C" "" "likely pathogenic" ""
"0000281079" "0" "10" "16" "4386814" "4386814" "subst" "0.979504" "02325" "GLIS2_000005" "g.4386814T>C" "" "" "" "GLIS2(NM_032575.3):c.864T>C (p.Y288=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4336813T>C" "" "benign" ""
"0000288515" "0" "50" "16" "4387127" "4387127" "subst" "0.000164255" "01943" "GLIS2_000006" "g.4387127G>A" "" "" "" "GLIS2(NM_032575.2):c.1177G>A (p.G393R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4337126G>A" "" "VUS" ""
"0000288516" "0" "30" "16" "4387285" "4387285" "subst" "2.06373E-5" "01943" "GLIS2_000007" "g.4387285G>C" "" "" "" "GLIS2(NM_001318918.1):c.1335G>C (p.E445D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4337284G>C" "" "likely benign" ""
"0000288517" "0" "30" "16" "4387426" "4387426" "subst" "0.00466529" "01943" "GLIS2_000009" "g.4387426G>A" "" "" "" "GLIS2(NM_032575.2):c.1476G>A (p.T492=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4337425G>A" "" "likely benign" ""
"0000288518" "0" "50" "16" "4385179" "4385179" "subst" "2.43992E-5" "01943" "GLIS2_000004" "g.4385179G>A" "" "" "" "GLIS2(NM_032575.2):c.641G>A (p.R214Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4335178G>A" "" "VUS" ""
"0000288519" "0" "30" "16" "4382351" "4382351" "subst" "0.00659008" "01943" "GLIS2_000003" "g.4382351C>A" "" "" "" "GLIS2(NM_032575.2):c.70C>A (p.R24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4332350C>A" "" "likely benign" ""
"0000324549" "0" "50" "16" "4387382" "4387382" "subst" "0" "01804" "GLIS2_000008" "g.4387382G>A" "" "" "" "GLIS2(NM_032575.2):c.1432G>A (p.(Asp478Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4337381G>A" "" "VUS" ""
"0000324550" "0" "50" "16" "4390989" "4390989" "subst" "0.000358082" "01804" "CORO7-PAM16_000001" "g.4390989G>A" "" "" "" "CORO7-PAM16(NM_001201479.1):c.2995-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4340988G>A" "" "VUS" ""
"0000341040" "0" "10" "16" "4386814" "4386814" "subst" "0.979504" "02327" "GLIS2_000005" "g.4386814T>C" "" "" "" "GLIS2(NM_032575.3):c.864T>C (p.Y288=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4336813T>C" "" "benign" ""
"0000341395" "0" "50" "16" "4387028" "4387028" "subst" "5.63343E-5" "02327" "GLIS2_000010" "g.4387028G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4337027G>A" "" "VUS" ""
"0000558212" "0" "30" "16" "4382212" "4382212" "subst" "0" "01943" "GLIS2_000011" "g.4382212C>A" "" "" "" "GLIS2(NM_001318918.1):c.-66-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4332211C>A" "" "likely benign" ""
"0000558213" "0" "30" "16" "4382332" "4382332" "subst" "2.86114E-5" "01943" "GLIS2_000012" "g.4382332C>G" "" "" "" "GLIS2(NM_001318918.1):c.51C>G (p.L17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4332331C>G" "" "likely benign" ""
"0000558214" "0" "30" "16" "4382375" "4382375" "subst" "4.09752E-6" "01804" "GLIS2_000013" "g.4382375C>T" "" "" "" "GLIS2(NM_032575.2):c.94C>T (p.(Arg32Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4332374C>T" "" "likely benign" ""
"0000558216" "0" "10" "16" "4383398" "4383398" "subst" "0.018847" "02326" "GLIS2_000014" "g.4383398G>T" "" "" "" "GLIS2(NM_032575.2):c.223G>T (p.A75S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4333397G>T" "" "benign" ""
"0000558217" "0" "50" "16" "4383414" "4383414" "subst" "0.0006074" "01943" "GLIS2_000015" "g.4383414A>T" "" "" "" "GLIS2(NM_001318918.1):c.239A>T (p.D80V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4333413A>T" "" "VUS" ""
"0000558218" "0" "50" "16" "4386920" "4386920" "subst" "1.22935E-5" "01943" "CORO7_000001" "g.4386920G>A" "" "" "" "GLIS2(NM_001318918.1):c.970G>A (p.E324K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4336919G>A" "" "VUS" ""
"0000558219" "0" "30" "16" "4387078" "4387078" "subst" "0.000251555" "01943" "CORO7_000002" "g.4387078C>T" "" "" "" "GLIS2(NM_032575.2):c.1128C>T (p.P376=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4337077C>T" "" "likely benign" ""
"0000558220" "0" "30" "16" "4387079" "4387079" "subst" "7.64117E-6" "01804" "CORO7_000003" "g.4387079G>C" "" "" "" "GLIS2(NM_032575.2):c.1129G>C (p.(Gly377Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4337078G>C" "" "likely benign" ""
"0000558222" "0" "50" "16" "4387338" "4387338" "subst" "0" "01943" "CORO7_000005" "g.4387338C>T" "" "" "" "GLIS2(NM_032575.2):c.1388C>T (p.T463M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4337337C>T" "" "VUS" ""
"0000558225" "0" "30" "16" "4393204" "4393204" "subst" "1.2239E-5" "01804" "CORO7_000008" "g.4393204T>G" "" "" "" "CORO7-PAM16(NM_001201479.1):c.2857+4A>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4343203T>G" "" "likely benign" ""
"0000616002" "0" "90" "16" "4387507" "4387507" "del" "0" "01943" "CORO7_000010" "g.4387507del" "" "" "" "GLIS2(NM_001318918.1):c.1557delA (p.K519Nfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4337506del" "" "pathogenic" ""
"0000649319" "1" "30" "16" "4383398" "4383398" "subst" "0.018847" "03575" "GLIS2_000014" "g.4383398G>T" "16/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "16 heterozygous; {DB:CLININrs72766563}" "Germline" "" "rs72766563" "0" "" "" "g.4333397G>T" "" "likely benign" ""
"0000649320" "1" "30" "16" "4386960" "4386960" "subst" "0.00279469" "03575" "GLIS2_000016" "g.4386960C>T" "35/2787 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "35 heterozygous, no homozygous; {DB:CLININrs140544340}" "Germline" "" "rs140544340" "0" "" "" "g.4336959C>T" "" "likely benign" ""
"0000649321" "1" "30" "16" "4387424" "4387424" "subst" "0.0330583" "03575" "CORO7_000006" "g.4387424A>G" "44/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "44 heterozygous, no homozygous; {DB:CLININrs8057701}" "Germline" "" "rs8057701" "0" "" "" "g.4337423A>G" "" "likely benign" ""
"0000669330" "3" "30" "16" "4383398" "4383398" "subst" "0.018847" "03575" "GLIS2_000014" "g.4383398G>T" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs72766563}" "Germline" "" "rs72766563" "0" "" "" "g.4333397G>T" "" "likely benign" ""
"0000680578" "0" "30" "16" "4383490" "4383490" "subst" "4.99367E-5" "01943" "GLIS2_000017" "g.4383490C>T" "" "" "" "GLIS2(NM_001318918.1):c.315C>T (p.N105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000680579" "0" "30" "16" "4387138" "4387138" "subst" "7.74353E-6" "01943" "CORO7_000011" "g.4387138G>A" "" "" "" "GLIS2(NM_001318918.1):c.1188G>A (p.G396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000692071" "0" "50" "16" "4385127" "4385127" "subst" "2.44018E-5" "01943" "GLIS2_000018" "g.4385127G>A" "" "" "" "GLIS2(NM_001318918.1):c.589G>A (p.E197K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000725794" "0" "50" "16" "4386909" "4386909" "subst" "1.63267E-5" "01943" "CORO7_000012" "g.4386909T>G" "" "" "" "GLIS2(NM_001318918.1):c.959T>G (p.F320C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000725795" "0" "30" "16" "4386946" "4386946" "subst" "8.47027E-6" "01943" "CORO7_000013" "g.4386946C>T" "" "" "" "GLIS2(NM_001318918.1):c.996C>T (p.R332=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000725796" "0" "30" "16" "4387300" "4387300" "subst" "0.00129499" "02326" "CORO7_000014" "g.4387300G>A" "" "" "" "GLIS2(NM_032575.2):c.1350G>A (p.S450=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000807405" "0" "30" "16" "4382338" "4382338" "subst" "4.49482E-5" "01943" "GLIS2_000019" "g.4382338G>A" "" "" "" "GLIS2(NM_001318918.1):c.57G>A (p.A19=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000807406" "0" "30" "16" "4383479" "4383479" "subst" "9.90949E-5" "01943" "GLIS2_000020" "g.4383479C>T" "" "" "" "GLIS2(NM_001318918.1):c.304C>T (p.R102C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000807407" "0" "30" "16" "4385108" "4385108" "subst" "3.25251E-5" "01943" "GLIS2_000021" "g.4385108C>T" "" "" "" "GLIS2(NM_001318918.1):c.570C>T (p.N190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000807408" "0" "30" "16" "4385366" "4385366" "subst" "0" "01943" "CORO7_000016" "g.4385366C>T" "" "" "" "GLIS2(NM_001318918.1):c.747C>T (p.N249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000807409" "0" "30" "16" "4387234" "4387234" "subst" "4.29504E-5" "01943" "CORO7_000017" "g.4387234G>A" "" "" "" "GLIS2(NM_001318918.1):c.1284G>A (p.L428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000807410" "0" "30" "16" "4387414" "4387414" "subst" "0.000933551" "02326" "CORO7_000018" "g.4387414G>A" "" "" "" "GLIS2(NM_032575.2):c.1464G>A (p.L488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000807411" "0" "30" "16" "4390914" "4390914" "subst" "0.0038606" "01804" "CORO7_000019" "g.4390914C>A" "" "" "" "CORO7-PAM16(NM_001201479.1):c.3060+7G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000807412" "0" "50" "16" "4391476" "4391476" "subst" "0.000155217" "01943" "CORO7_000020" "g.4391476G>A" "" "" "" "CORO7-PAM16(NM_001201479.1):c.2887C>T (p.(Arg963Cys)), PAM16(NM_016069.10):c.118C>T (p.R40C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000845924" "0" "70" "16" "4382334" "4382334" "subst" "8.17568E-6" "00000" "GLIS2_000022" "g.4382334G>A" "" "{PMID:Kang 2016:27491411}" "" "GLIS2/NPHP7 c.53G>A, p.Arg18Gln" "single heterozygous variant in a recessive disease; no second causative allele found" "Unknown" "?" "" "0" "" "" "g.4332333G>A" "" "likely pathogenic" ""
"0000854515" "0" "10" "16" "4386960" "4386960" "subst" "0.00279469" "02326" "GLIS2_000016" "g.4386960C>T" "" "" "" "GLIS2(NM_032575.2):c.1010C>T (p.P337L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000854516" "0" "30" "16" "4391463" "4391463" "subst" "0.0183201" "01804" "CORO7_000023" "g.4391463C>T" "" "" "" "CORO7-PAM16(NM_001201479.1):c.2900G>A (p.(Arg967Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000864809" "0" "50" "16" "4386835" "4386835" "subst" "0" "01943" "CORO7_000021" "g.4386835C>G" "" "" "" "GLIS2(NM_001318918.1):c.885C>G (p.C295W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000864810" "0" "30" "16" "4386844" "4386844" "subst" "0.00185951" "02326" "CORO7_000022" "g.4386844C>T" "" "" "" "GLIS2(NM_032575.2):c.894C>T (p.P298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000864811" "0" "50" "16" "4391476" "4391476" "subst" "0.000155217" "01804" "CORO7_000020" "g.4391476G>A" "" "" "" "CORO7-PAM16(NM_001201479.1):c.2887C>T (p.(Arg963Cys)), PAM16(NM_016069.10):c.118C>T (p.R40C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000892993" "0" "30" "16" "4385414" "4385414" "subst" "0.00114585" "02326" "CORO7_000024" "g.4385414C>T" "" "" "" "GLIS2(NM_032575.2):c.775+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000892994" "0" "30" "16" "4387276" "4387276" "subst" "5.59534E-5" "02326" "CORO7_000025" "g.4387276C>T" "" "" "" "GLIS2(NM_032575.2):c.1326C>T (p.A442=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000892995" "0" "50" "16" "4390397" "4390397" "subst" "0" "01804" "CORO7_000026" "g.4390397C>G" "" "" "" "CORO7-PAM16(NM_001201479.1):c.3070G>C (p.(Ala1024Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000914630" "0" "30" "16" "4387209" "4387209" "subst" "0.00172406" "02326" "CORO7_000004" "g.4387209C>T" "" "" "" "GLIS2(NM_032575.2):c.1259C>T (p.P420L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000926288" "0" "30" "16" "4387353" "4387353" "subst" "0.000138922" "01804" "CORO7_000027" "g.4387353C>T" "" "" "" "GLIS2(NM_001318918.1):c.1403C>T (p.(Thr468Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000950660" "0" "30" "16" "4386961" "4386961" "subst" "0.00490424" "02326" "CORO7_000029" "g.4386961G>A" "" "" "" "GLIS2(NM_032575.2):c.1011G>A (p.P337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000950661" "0" "50" "16" "4387305" "4387305" "subst" "1.23986E-5" "02325" "CORO7_000030" "g.4387305C>T" "" "" "" "GLIS2(NM_032575.3):c.1355C>T (p.P452L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001041139" "0" "50" "16" "4384839" "4384839" "subst" "0" "01804" "GLIS2_000023" "g.4384839G>C" "" "" "" "GLIS2(NM_032575.3):c.383G>C (p.(Ser128Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001041140" "0" "50" "16" "4385125" "4385125" "subst" "0" "01804" "GLIS2_000024" "g.4385125C>T" "" "" "" "GLIS2(NM_032575.3):c.587C>T (p.(Pro196Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001041141" "0" "30" "16" "4391509" "4391509" "dup" "0" "01804" "CORO7_000036" "g.4391509dup" "" "" "" "PAM16(NM_016069.11):c.89-4dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001055422" "0" "50" "16" "4393249" "4393249" "subst" "6.12365E-5" "01804" "CORO7_000037" "g.4393249A>G" "" "" "" "PAM16(NM_016069.11):c.47T>C (p.(Val16Ala))" "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 GLIS2
## Count = 59
"{{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}}"
"0000073961" "00008576" "90" "775" "1" "775" "1" "c.775+1G>T" "r.spl?" "p.?" "5i"
"0000073962" "00008576" "70" "523" "0" "523" "0" "c.523T>C" "r.(spl?)" "p.(Cys175Arg)" "4"
"0000075165" "00008576" "70" "523" "0" "523" "0" "c.523T>C" "r.(spl?)" "p.(Cys175Arg)" "4"
"0000281079" "00008576" "10" "864" "0" "864" "0" "c.864T>C" "r.(?)" "p.(Tyr288=)" ""
"0000288515" "00008576" "50" "1177" "0" "1177" "0" "c.1177G>A" "r.(?)" "p.(Gly393Arg)" ""
"0000288516" "00008576" "30" "1335" "0" "1335" "0" "c.1335G>C" "r.(?)" "p.(Glu445Asp)" ""
"0000288517" "00008576" "30" "1476" "0" "1476" "0" "c.1476G>A" "r.(?)" "p.(Thr492=)" ""
"0000288518" "00008576" "50" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Arg214Gln)" ""
"0000288519" "00008576" "30" "70" "0" "70" "0" "c.70C>A" "r.(?)" "p.(Arg24=)" ""
"0000324549" "00008576" "50" "1432" "0" "1432" "0" "c.1432G>A" "r.(?)" "p.(Asp478Asn)" ""
"0000324550" "00008576" "50" "5039" "0" "5039" "0" "c.*3464G>A" "r.(=)" "p.(=)" ""
"0000341040" "00008576" "10" "864" "0" "864" "0" "c.864T>C" "r.(?)" "p.(Tyr288=)" ""
"0000341395" "00008576" "50" "1078" "0" "1078" "0" "c.1078G>A" "r.(?)" "p.(Ala360Thr)" ""
"0000558212" "00008576" "30" "-70" "0" "-70" "0" "c.-70C>A" "r.(?)" "p.(=)" ""
"0000558213" "00008576" "30" "51" "0" "51" "0" "c.51C>G" "r.(?)" "p.(Leu17=)" ""
"0000558214" "00008576" "30" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Arg32Trp)" ""
"0000558216" "00008576" "10" "223" "0" "223" "0" "c.223G>T" "r.(?)" "p.(Ala75Ser)" ""
"0000558217" "00008576" "50" "239" "0" "239" "0" "c.239A>T" "r.(?)" "p.(Asp80Val)" ""
"0000558218" "00008576" "50" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Glu324Lys)" ""
"0000558219" "00008576" "30" "1128" "0" "1128" "0" "c.1128C>T" "r.(?)" "p.(Pro376=)" ""
"0000558220" "00008576" "30" "1129" "0" "1129" "0" "c.1129G>C" "r.(?)" "p.(Gly377Arg)" ""
"0000558222" "00008576" "50" "1388" "0" "1388" "0" "c.1388C>T" "r.(?)" "p.(Thr463Met)" ""
"0000558225" "00008576" "30" "7254" "0" "7254" "0" "c.*5679T>G" "r.(=)" "p.(=)" ""
"0000616002" "00008576" "90" "1557" "0" "1557" "0" "c.1557del" "r.(?)" "p.(Lys519AsnfsTer5)" ""
"0000649319" "00008576" "30" "223" "0" "223" "0" "c.223G>T" "r.(?)" "p.(Ala75Ser)" ""
"0000649320" "00008576" "30" "1010" "0" "1010" "0" "c.1010C>T" "r.(?)" "p.(Pro337Leu)" ""
"0000649321" "00008576" "30" "1474" "0" "1474" "0" "c.1474A>G" "r.(?)" "p.(Thr492Ala)" ""
"0000669330" "00008576" "30" "223" "0" "223" "0" "c.223G>T" "r.(?)" "p.(Ala75Ser)" ""
"0000680578" "00008576" "30" "315" "0" "315" "0" "c.315C>T" "r.(?)" "p.(Asn105=)" ""
"0000680579" "00008576" "30" "1188" "0" "1188" "0" "c.1188G>A" "r.(?)" "p.(Gly396=)" ""
"0000692071" "00008576" "50" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Glu197Lys)" ""
"0000725794" "00008576" "50" "959" "0" "959" "0" "c.959T>G" "r.(?)" "p.(Phe320Cys)" ""
"0000725795" "00008576" "30" "996" "0" "996" "0" "c.996C>T" "r.(?)" "p.(Arg332=)" ""
"0000725796" "00008576" "30" "1350" "0" "1350" "0" "c.1350G>A" "r.(?)" "p.(Ser450=)" ""
"0000807405" "00008576" "30" "57" "0" "57" "0" "c.57G>A" "r.(?)" "p.(Ala19=)" ""
"0000807406" "00008576" "30" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102Cys)" ""
"0000807407" "00008576" "30" "570" "0" "570" "0" "c.570C>T" "r.(?)" "p.(Asn190=)" ""
"0000807408" "00008576" "30" "747" "0" "747" "0" "c.747C>T" "r.(?)" "p.(Asn249=)" ""
"0000807409" "00008576" "30" "1284" "0" "1284" "0" "c.1284G>A" "r.(?)" "p.(Leu428=)" ""
"0000807410" "00008576" "30" "1464" "0" "1464" "0" "c.1464G>A" "r.(?)" "p.(Leu488=)" ""
"0000807411" "00008576" "30" "4964" "0" "4964" "0" "c.*3389C>A" "r.(=)" "p.(=)" ""
"0000807412" "00008576" "50" "5526" "0" "5526" "0" "c.*3951G>A" "r.(=)" "p.(=)" ""
"0000845924" "00008576" "70" "53" "0" "53" "0" "c.53G>A" "r.(?)" "p.(Arg18Gln)" ""
"0000854515" "00008576" "10" "1010" "0" "1010" "0" "c.1010C>T" "r.(?)" "p.(Pro337Leu)" ""
"0000854516" "00008576" "30" "5513" "0" "5513" "0" "c.*3938C>T" "r.(=)" "p.(=)" ""
"0000864809" "00008576" "50" "885" "0" "885" "0" "c.885C>G" "r.(?)" "p.(Cys295Trp)" ""
"0000864810" "00008576" "30" "894" "0" "894" "0" "c.894C>T" "r.(?)" "p.(Pro298=)" ""
"0000864811" "00008576" "50" "5526" "0" "5526" "0" "c.*3951G>A" "r.(=)" "p.(=)" ""
"0000892993" "00008576" "30" "775" "20" "775" "20" "c.775+20C>T" "r.(=)" "p.(=)" ""
"0000892994" "00008576" "30" "1326" "0" "1326" "0" "c.1326C>T" "r.(?)" "p.(Ala442=)" ""
"0000892995" "00008576" "50" "4447" "0" "4447" "0" "c.*2872C>G" "r.(=)" "p.(=)" ""
"0000914630" "00008576" "30" "1259" "0" "1259" "0" "c.1259C>T" "r.(?)" "p.(Pro420Leu)" ""
"0000926288" "00008576" "30" "1403" "0" "1403" "0" "c.1403C>T" "r.(?)" "p.(Thr468Met)" ""
"0000950660" "00008576" "30" "1011" "0" "1011" "0" "c.1011G>A" "r.(?)" "p.(=)" ""
"0000950661" "00008576" "50" "1355" "0" "1355" "0" "c.1355C>T" "r.(?)" "p.(Pro452Leu)" ""
"0001041139" "00008576" "50" "383" "0" "383" "0" "c.383G>C" "r.(?)" "p.(Ser128Thr)" ""
"0001041140" "00008576" "50" "587" "0" "587" "0" "c.587C>T" "r.(?)" "p.(Pro196Leu)" ""
"0001041141" "00008576" "30" "5559" "0" "5559" "0" "c.*3984dup" "r.(?)" "p.(=)" ""
"0001055422" "00008576" "50" "7299" "0" "7299" "0" "c.*5724A>G" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 7
"{{screeningid}}" "{{variantid}}"
"0000046437" "0000073961"
"0000046438" "0000073962"
"0000292630" "0000649319"
"0000292631" "0000649320"
"0000292632" "0000649321"
"0000305642" "0000669330"
"0000408913" "0000845924"