### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IFT80) # 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}}" "IFT80" "intraflagellar transport 80 homolog (Chlamydomonas)" "3" "q25.33" "unknown" "NG_022932.1" "UD_132085389147" "" "http://www.LOVD.nl/IFT80" "" "1" "29262" "57560" "611177" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/IFT80_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-01-30 02:46:15" "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}}" "00009856" "IFT80" "transcript variant 1" "001" "NM_020800.2" "" "NP_065851.1" "" "" "" "-433" "3873" "2334" "160117320" "159974774" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00380" "SRTD3" "dysplasia, short-rib thoracic, type 3, with/without polydactyly (SRTD-3)" "AR;DR" "613091" "" "" "" "00006" "2014-05-02 17:15:21" "00006" "2021-12-10 21:51:32" "03017" "SRTD2;ATD2" "dysplasia, short-rib thoracic, type 2, with/without polydactyly (SRTD-2, asphyxiating thoracic dystrophy 2 (ATD-2))" "AR" "611263" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "IFT80" "03017" ## 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}}" "00058520" "" "" "" "1" "" "01396" "" "" "F" "?" "Brazil" "" "0" "" "" "" "" "00293265" "" "" "" "23" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304935" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00388415" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R04-355" "00388416" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "African American" "R09-101A" "00388417" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "African American" "R10-594A" "00388418" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R98-453A" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00058520" "00380" "00293265" "00198" "00304935" "00198" "00388415" "00198" "00388416" "00198" "00388417" "00198" "00388418" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00380, 03017 ## Count = 5 "{{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}}" "0000045123" "00380" "00058520" "01396" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281967" "00198" "00388415" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281968" "00198" "00388416" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS IV)" "" "0000281969" "00198" "00388417" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS II)" "" "0000281970" "00198" "00388418" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" ## 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}}" "0000058483" "00058520" "1" "01396" "01396" "2016-01-27 17:30:23" "" "" "SEQ" "DNA" "" "" "0000294433" "00293265" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306064" "00304935" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000389656" "00388415" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389657" "00388416" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389658" "00388417" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389659" "00388418" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000058483" "IFT80" "0000389656" "IFT80" "0000389657" "IFT80" "0000389658" "IFT80" "0000389659" "IFT80" ## 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 = 70 "{{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}}" "0000089061" "3" "70" "3" "160073857" "160073857" "subst" "7.71806E-5" "01396" "IFT80_000001" "g.160073857C>G" "" "" "" "g.43812G>C" "" "Germline" "" "" "0" "" "" "g.160356069C>G" "" "likely pathogenic" "" "0000253771" "0" "10" "3" "159995356" "159995356" "subst" "0.174012" "01943" "IFT80_000005" "g.159995356A>G" "" "" "" "IFT80(NM_020800.2):c.1926+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160277568A>G" "" "benign" "" "0000253772" "0" "10" "3" "159998447" "159998447" "subst" "1.62876E-5" "01943" "IFT80_000014" "g.159998447A>G" "" "" "" "IFT80(NM_020800.2):c.1664+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160280659A>G" "" "benign" "" "0000254825" "0" "30" "3" "160137252" "160137252" "subst" "8.16686E-6" "01943" "SMC4_000001" "g.160137252A>G" "" "" "" "SMC4(NM_001002800.2):c.1778A>G (p.N593S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160419464A>G" "" "likely benign" "" "0000285174" "0" "10" "3" "160093678" "160093678" "subst" "0.00433742" "02326" "IFT80_000011" "g.160093678G>T" "" "" "" "IFT80(NM_020800.3):c.371-10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160375890G>T" "" "benign" "" "0000289478" "0" "50" "3" "160025451" "160025451" "subst" "0.0108334" "01943" "IFT80_000008" "g.160025451G>A" "" "" "" "IFT80(NM_001190241.1):c.665C>T (p.(Ser222Phe)), IFT80(NM_020800.2):c.1076C>T (p.S359F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160307663G>A" "" "VUS" "" "0000289479" "0" "10" "3" "159997061" "159997061" "subst" "0.224194" "01943" "IFT80_000006" "g.159997061T>A" "" "" "" "IFT80(NM_020800.2):c.1756A>T (p.T586S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160279273T>A" "" "benign" "" "0000289480" "0" "10" "3" "159976432" "159976432" "subst" "0.000146682" "01943" "IFT80_000003" "g.159976432G>A" "" "" "" "IFT80(NM_001190241.1):c.1813-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160258644G>A" "" "benign" "" "0000289482" "0" "10" "3" "160083918" "160083918" "subst" "0.0164499" "01943" "IFT80_000009" "g.160083918C>T" "" "" "" "IFT80(NM_020800.2):c.462G>A (p.A154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160366130C>T" "" "benign" "" "0000329683" "0" "50" "3" "159986268" "159986268" "subst" "0.000366065" "01804" "IFT80_000004" "g.159986268C>T" "" "" "" "IFT80(NM_001190241.1):c.1745G>A (p.R582H, p.(Arg582His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160268480C>T" "" "VUS" "" "0000329684" "0" "50" "3" "160000283" "160000283" "subst" "0.000349525" "01804" "IFT80_000007" "g.160000283T>C" "" "" "" "IFT80(NM_001190241.1):c.1088A>G (p.E363G, p.(Glu363Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160282495T>C" "" "VUS" "" "0000329686" "0" "50" "3" "160156075" "160156075" "subst" "0.000353261" "01804" "TRIM59_000001" "g.160156075G>T" "" "" "" "TRIM59(NM_173084.2):c.897C>A (p.(Asn299Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160438287G>T" "" "VUS" "" "0000329688" "0" "50" "3" "160156705" "160156705" "subst" "0.000349403" "01804" "TRIM59_000003" "g.160156705T>G" "" "" "" "TRIM59(NM_173084.2):c.267A>C (p.(Glu89Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160438917T>G" "" "VUS" "" "0000337302" "0" "10" "3" "159995356" "159995356" "subst" "0.174012" "02327" "IFT80_000005" "g.159995356A>G" "" "" "" "IFT80(NM_020800.2):c.1926+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160277568A>G" "" "benign" "" "0000343302" "0" "50" "3" "159986268" "159986268" "subst" "0.000366065" "02327" "IFT80_000004" "g.159986268C>T" "" "" "" "IFT80(NM_001190241.1):c.1745G>A (p.R582H, p.(Arg582His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160268480C>T" "" "VUS" "" "0000345461" "0" "50" "3" "160000283" "160000283" "subst" "0.000349525" "02327" "IFT80_000007" "g.160000283T>C" "" "" "" "IFT80(NM_001190241.1):c.1088A>G (p.E363G, p.(Glu363Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160282495T>C" "" "VUS" "" "0000349574" "0" "10" "3" "159997061" "159997061" "subst" "0.224194" "02327" "IFT80_000006" "g.159997061T>A" "" "" "" "IFT80(NM_020800.2):c.1756A>T (p.T586S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160279273T>A" "" "benign" "" "0000518395" "0" "10" "3" "159976442" "159976442" "dup" "0" "01943" "IFT80_000016" "g.159976442dup" "" "" "" "IFT80(NM_020800.2):c.2224-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160258654dup" "" "benign" "" "0000518396" "0" "50" "3" "160000407" "160000407" "subst" "4.1616E-5" "01804" "IFT80_000017" "g.160000407A>T" "" "" "" "IFT80(NM_020800.3):c.1381-6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160282619A>T" "" "VUS" "" "0000518397" "0" "10" "3" "160025451" "160025451" "subst" "0.0108334" "01804" "IFT80_000008" "g.160025451G>A" "" "" "" "IFT80(NM_001190241.1):c.665C>T (p.(Ser222Phe)), IFT80(NM_020800.2):c.1076C>T (p.S359F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160307663G>A" "" "benign" "" "0000518398" "0" "30" "3" "160075272" "160075272" "subst" "0.000353493" "01804" "IFT80_000018" "g.160075272T>C" "" "" "" "IFT80(NM_001190241.1):c.228+5A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160357484T>C" "" "likely benign" "" "0000518400" "0" "30" "3" "160118681" "160118722" "del" "0" "01804" "IFT80_000020" "g.160118681_160118722del" "" "" "" "SMC4(NM_001002800.1):c.57_98del (p.(Pro21_Pro34del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160400893_160400934del" "" "likely benign" "" "0000518401" "0" "30" "3" "160122270" "160122270" "subst" "0.000179101" "01804" "IFT80_000021" "g.160122270A>G" "" "" "" "SMC4(NM_001002800.1):c.665A>G (p.(His222Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160404482A>G" "" "likely benign" "" "0000518406" "0" "30" "3" "160155868" "160155871" "del" "0" "01804" "IFT80_000026" "g.160155868_160155871del" "" "" "" "TRIM59(NM_173084.2):c.1103_1106del (p.(Ser368TyrfsTer14))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160438080_160438083del" "" "likely benign" "" "0000651122" "1" "30" "3" "160025451" "160025451" "subst" "0.0108334" "03575" "IFT80_000008" "g.160025451G>A" "23/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "23 heterozygous; {DB:CLININrs144099135}" "Germline" "" "rs144099135" "0" "" "" "g.160307663G>A" "" "likely benign" "" "0000669752" "3" "30" "3" "160025451" "160025451" "subst" "0.0108334" "03575" "IFT80_000008" "g.160025451G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs144099135}" "Germline" "" "rs144099135" "0" "" "" "g.160307663G>A" "" "likely benign" "" "0000688974" "0" "30" "3" "160099337" "160099337" "subst" "0.000113771" "01943" "IFT80_000028" "g.160099337T>G" "" "" "" "IFT80(NM_020800.2):c.213A>C (p.V71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719262" "0" "30" "3" "160037572" "160037572" "subst" "0.000777023" "02326" "IFT80_000029" "g.160037572T>C" "" "" "" "IFT80(NM_020800.3):c.933A>G (p.T311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719263" "0" "50" "3" "160095319" "160095319" "subst" "0" "01943" "IFT80_000030" "g.160095319T>C" "" "" "" "IFT80(NM_020800.2):c.269A>G (p.H90R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801061" "0" "50" "3" "159998567" "159998567" "subst" "2.84958E-5" "01943" "IFT80_000031" "g.159998567A>G" "" "" "" "IFT80(NM_001190241.1):c.1141T>C (p.C381R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801062" "0" "30" "3" "160037568" "160037568" "subst" "0.000443493" "01943" "IFT80_000032" "g.160037568T>C" "" "" "" "IFT80(NM_001190241.1):c.526A>G (p.T176A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801063" "0" "30" "3" "160037626" "160037626" "subst" "0.000386628" "01943" "IFT80_000033" "g.160037626G>A" "" "" "" "IFT80(NM_001190241.1):c.468C>T (p.V156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000818841" "0" "90" "3" "160021761" "160021761" "subst" "5.69124E-5" "00000" "IFT80_000035" "g.160021761T>C" "" "{PMID:Zhang-2019:29068549}" "" "NM_020800.2:c.1093A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818842" "0" "90" "3" "160073857" "160073857" "subst" "7.71806E-5" "00000" "IFT80_000001" "g.160073857C>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_020800.2:c.721G>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818843" "0" "90" "3" "160021761" "160021761" "subst" "5.69124E-5" "00000" "IFT80_000035" "g.160021761T>C" "" "{PMID:Zhang-2019:29068549}" "" "NM_020800.2:c.1093A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818844" "0" "90" "3" "160083890" "160083893" "del" "0" "00000" "IFT80_000037" "g.160083890_160083893del" "" "{PMID:Zhang-2019:29068549}" "" "NM_020800.2:c.487_490delCTTT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818845" "0" "90" "3" "160073857" "160073857" "subst" "7.71806E-5" "00000" "IFT80_000001" "g.160073857C>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_020800.2:c.721G>C" "variant 2nd chromosome not mentioned; Variant published before in Cavalcanti 2011 as Hom" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818846" "0" "90" "3" "159998558" "159998558" "subst" "0" "00000" "IFT80_000034" "g.159998558G>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_020800.2:c.1561C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818847" "0" "90" "3" "160075344" "160075344" "subst" "4.06825E-6" "00000" "IFT80_000036" "g.160075344A>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_020800.2:c.572T>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000850176" "0" "30" "3" "159997079" "159997079" "subst" "3.66125E-5" "01943" "IFT80_000038" "g.159997079G>A" "" "" "" "IFT80(NM_001190241.1):c.1327C>T (p.L443=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850177" "0" "50" "3" "160018694" "160018694" "subst" "3.2785E-5" "01943" "IFT80_000039" "g.160018694A>G" "" "" "" "IFT80(NM_001190241.1):c.881T>C (p.I294T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858851" "0" "50" "3" "159986268" "159986268" "subst" "0.000366065" "01943" "IFT80_000004" "g.159986268C>T" "" "" "" "IFT80(NM_001190241.1):c.1745G>A (p.R582H, p.(Arg582His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858852" "0" "30" "3" "160000283" "160000283" "subst" "0.000349525" "01943" "IFT80_000007" "g.160000283T>C" "" "" "" "IFT80(NM_001190241.1):c.1088A>G (p.E363G, p.(Glu363Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858853" "0" "50" "3" "160021775" "160021775" "subst" "4.88031E-5" "01804" "IFT80_000040" "g.160021775G>A" "" "" "" "IFT80(NM_001190241.1):c.668C>T (p.(Thr223Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858854" "0" "30" "3" "160037636" "160037636" "subst" "0.000146524" "01804" "IFT80_000041" "g.160037636T>C" "" "" "" "IFT80(NM_001190241.1):c.458A>G (p.(Asn153Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858855" "0" "30" "3" "160075272" "160075272" "subst" "0.000353493" "01943" "IFT80_000018" "g.160075272T>C" "" "" "" "IFT80(NM_001190241.1):c.228+5A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858856" "0" "30" "3" "160095306" "160095306" "subst" "0.000842683" "02326" "IFT80_000042" "g.160095306C>T" "" "" "" "IFT80(NM_020800.3):c.282G>A (p.K94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885615" "0" "30" "3" "160003622" "160003622" "subst" "0.000366163" "02326" "IFT80_000043" "g.160003622C>T" "" "" "" "IFT80(NM_020800.3):c.1350G>A (p.P450=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885616" "0" "50" "3" "160037697" "160037697" "subst" "4.08777E-6" "01804" "IFT80_000044" "g.160037697C>A" "" "" "" "IFT80(NM_020800.2):c.808G>T (p.(Gly270Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885617" "0" "30" "3" "160073781" "160073781" "subst" "0.00195238" "02326" "IFT80_000045" "g.160073781T>C" "" "" "" "IFT80(NM_020800.3):c.777+20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962540" "0" "10" "3" "160142830" "160142841" "dup" "0" "02329" "IFT80_000047" "g.160142830_160142841dup" "" "" "" "SMC4(NM_001002800.3):c.2478+18_2478+29dupTGTGTGTGTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000975648" "0" "50" "3" "160073923" "160073923" "subst" "8.93728E-5" "01804" "IFT80_000049" "g.160073923C>T" "" "" "" "IFT80(NM_020800.3):c.655G>A (p.(Gly219Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975649" "0" "30" "3" "160137171" "160137171" "subst" "0.000134474" "01804" "IFT80_000050" "g.160137171C>A" "" "" "" "SMC4(NM_001002800.3):c.1697C>A (p.(Thr566Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975650" "0" "50" "3" "160148419" "160148419" "subst" "7.34256E-5" "01804" "IFT80_000051" "g.160148419G>A" "" "" "" "SMC4(NM_001002800.3):c.2828G>A (p.(Arg943His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993409" "0" "50" "3" "160073895" "160073895" "subst" "0" "01804" "IFT80_000052" "g.160073895T>C" "" "" "" "IFT80(NM_020800.2):c.683A>G (p.(His228Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993410" "0" "50" "3" "160142671" "160142671" "subst" "0" "01804" "IFT80_000053" "g.160142671C>A" "" "" "" "SMC4(NM_001002800.1):c.2342C>A (p.(Ser781*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033783" "0" "30" "3" "159996971" "159996971" "subst" "4.07914E-6" "01804" "IFT80_000054" "g.159996971T>C" "" "" "" "IFT80(NM_020800.3):c.1836+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033784" "0" "30" "3" "159997159" "159997159" "subst" "0" "01804" "IFT80_000055" "g.159997159A>G" "" "" "" "IFT80(NM_020800.3):c.1665-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033785" "0" "50" "3" "159998461" "159998461" "subst" "4.06924E-6" "01804" "IFT80_000056" "g.159998461T>A" "" "" "" "IFT80(NM_020800.3):c.1658A>T (p.(Asp553Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033786" "0" "50" "3" "159998492" "159998492" "subst" "8.13411E-6" "01804" "IFT80_000057" "g.159998492C>T" "" "" "" "IFT80(NM_020800.3):c.1627G>A (p.(Asp543Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033787" "0" "70" "3" "160037658" "160037658" "subst" "4.07538E-6" "01804" "IFT80_000058" "g.160037658G>A" "" "" "" "IFT80(NM_020800.3):c.847C>T (p.(Gln283*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001033788" "0" "30" "3" "160073793" "160073793" "subst" "0" "01804" "IFT80_000059" "g.160073793T>A" "" "" "" "IFT80(NM_020800.3):c.777+8A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033789" "0" "50" "3" "160149560" "160149560" "subst" "1.21999E-5" "01804" "IFT80_000060" "g.160149560C>T" "" "" "" "SMC4(NM_001002800.3):c.3244C>T (p.(Arg1082Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033790" "0" "50" "3" "160156049" "160156049" "subst" "0" "01804" "IFT80_000061" "g.160156049G>T" "" "" "" "TRIM59(NM_173084.3):c.923C>A (p.(Ser308Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051555" "0" "30" "3" "159976442" "159976442" "del" "0" "01804" "IFT80_000012" "g.159976442del" "" "" "" "IFT80(NM_020800.3):c.2224-10del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051556" "0" "50" "3" "159995412" "159995412" "subst" "0.000358873" "01804" "IFT80_000062" "g.159995412C>T" "" "" "" "IFT80(NM_020800.3):c.1883G>A (p.(Arg628Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051557" "0" "30" "3" "160000274" "160000274" "subst" "0" "01804" "IFT80_000063" "g.160000274A>C" "" "" "" "IFT80(NM_020800.3):c.1508T>G (p.(Ile503Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051558" "0" "50" "3" "160025475" "160025475" "subst" "5.28821E-5" "01804" "IFT80_000064" "g.160025475G>A" "" "" "" "IFT80(NM_020800.3):c.1052C>T (p.(Thr351Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051559" "0" "50" "3" "160073878" "160073878" "subst" "0" "01804" "IFT80_000065" "g.160073878A>C" "" "" "" "IFT80(NM_020800.3):c.700T>G (p.(Ser234Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051560" "0" "50" "3" "160075339" "160075339" "subst" "0" "01804" "IFT80_000066" "g.160075339T>C" "" "" "" "IFT80(NM_020800.3):c.577A>G (p.(Lys193Glu))" "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 IFT80 ## Count = 70 "{{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}}" "0000089061" "00009856" "70" "721" "0" "721" "0" "c.721G>C" "r.(?)" "p.(Gly241Arg)" "8" "0000253771" "00009856" "10" "1926" "13" "1926" "13" "c.1926+13T>C" "r.(=)" "p.(=)" "" "0000253772" "00009856" "10" "1664" "8" "1664" "8" "c.1664+8T>C" "r.(=)" "p.(=)" "" "0000254825" "00009856" "30" "-20365" "0" "-20365" "0" "c.-20365T>C" "r.(?)" "p.(=)" "" "0000285174" "00009856" "10" "371" "-10" "371" "-10" "c.371-10C>A" "r.(=)" "p.(=)" "" "0000289478" "00009856" "50" "1076" "0" "1076" "0" "c.1076C>T" "r.(?)" "p.(Ser359Phe)" "" "0000289479" "00009856" "10" "1756" "0" "1756" "0" "c.1756A>T" "r.(?)" "p.(Thr586Ser)" "" "0000289480" "00009856" "10" "2224" "-9" "2224" "-9" "c.2224-9C>T" "r.(=)" "p.(=)" "" "0000289482" "00009856" "10" "462" "0" "462" "0" "c.462G>A" "r.(?)" "p.(Ala154=)" "" "0000329683" "00009856" "50" "2156" "0" "2156" "0" "c.2156G>A" "r.(?)" "p.(Arg719His)" "" "0000329684" "00009856" "50" "1499" "0" "1499" "0" "c.1499A>G" "r.(?)" "p.(Glu500Gly)" "" "0000329686" "00009856" "50" "-39188" "0" "-39188" "0" "c.-39188C>A" "r.(?)" "p.(=)" "" "0000329688" "00009856" "50" "-39818" "0" "-39818" "0" "c.-39818A>C" "r.(?)" "p.(=)" "" "0000337302" "00009856" "10" "1926" "13" "1926" "13" "c.1926+13T>C" "r.(=)" "p.(=)" "" "0000343302" "00009856" "50" "2156" "0" "2156" "0" "c.2156G>A" "r.(?)" "p.(Arg719His)" "" "0000345461" "00009856" "50" "1499" "0" "1499" "0" "c.1499A>G" "r.(?)" "p.(Glu500Gly)" "" "0000349574" "00009856" "10" "1756" "0" "1756" "0" "c.1756A>T" "r.(?)" "p.(Thr586Ser)" "" "0000518395" "00009856" "10" "2224" "-10" "2224" "-10" "c.2224-10dup" "r.(=)" "p.(=)" "" "0000518396" "00009856" "50" "1381" "-6" "1381" "-6" "c.1381-6T>A" "r.(=)" "p.(=)" "" "0000518397" "00009856" "10" "1076" "0" "1076" "0" "c.1076C>T" "r.(?)" "p.(Ser359Phe)" "" "0000518398" "00009856" "30" "639" "5" "639" "5" "c.639+5A>G" "r.spl?" "p.?" "" "0000518400" "00009856" "30" "-1825" "0" "-1784" "0" "c.-1825_-1784del" "r.(?)" "p.(=)" "" "0000518401" "00009856" "30" "-5383" "0" "-5383" "0" "c.-5383T>C" "r.(?)" "p.(=)" "" "0000518406" "00009856" "30" "-38982" "0" "-38979" "0" "c.-38982_-38979del" "r.(?)" "p.(=)" "" "0000651122" "00009856" "30" "1076" "0" "1076" "0" "c.1076C>T" "r.(?)" "p.(Ser359Phe)" "" "0000669752" "00009856" "30" "1076" "0" "1076" "0" "c.1076C>T" "r.(?)" "p.(Ser359Phe)" "" "0000688974" "00009856" "30" "213" "0" "213" "0" "c.213A>C" "r.(?)" "p.(Val71=)" "" "0000719262" "00009856" "30" "933" "0" "933" "0" "c.933A>G" "r.(?)" "p.(Thr311=)" "" "0000719263" "00009856" "50" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(His90Arg)" "" "0000801061" "00009856" "50" "1552" "0" "1552" "0" "c.1552T>C" "r.(?)" "p.(Cys518Arg)" "" "0000801062" "00009856" "30" "937" "0" "937" "0" "c.937A>G" "r.(?)" "p.(Thr313Ala)" "" "0000801063" "00009856" "30" "879" "0" "879" "0" "c.879C>T" "r.(?)" "p.(Val293=)" "" "0000818841" "00009856" "90" "1093" "0" "1093" "0" "c.1093A>G" "r.(?)" "p.(Thr365Ala)" "11" "0000818842" "00009856" "90" "721" "0" "721" "0" "c.721G>C" "r.(?)" "p.(Gly241Arg)" "8" "0000818843" "00009856" "90" "1093" "0" "1093" "0" "c.1093A>G" "r.(?)" "p.(Thr365Ala)" "11" "0000818844" "00009856" "90" "487" "0" "490" "0" "c.487_490del" "r.(?)" "p.(Leu163Ilefs*7)" "6" "0000818845" "00009856" "90" "721" "0" "721" "0" "c.721G>C" "r.(?)" "p.(Gly241Arg)" "8" "0000818846" "00009856" "90" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Leu521Phe)" "15" "0000818847" "00009856" "90" "572" "0" "572" "0" "c.572T>A" "r.(?)" "p.(Ile191Asn)" "7" "0000850176" "00009856" "30" "1738" "0" "1738" "0" "c.1738C>T" "r.(?)" "p.(Leu580=)" "" "0000850177" "00009856" "50" "1292" "0" "1292" "0" "c.1292T>C" "r.(?)" "p.(Ile431Thr)" "" "0000858851" "00009856" "50" "2156" "0" "2156" "0" "c.2156G>A" "r.(?)" "p.(Arg719His)" "" "0000858852" "00009856" "30" "1499" "0" "1499" "0" "c.1499A>G" "r.(?)" "p.(Glu500Gly)" "" "0000858853" "00009856" "50" "1079" "0" "1079" "0" "c.1079C>T" "r.(?)" "p.(Thr360Met)" "" "0000858854" "00009856" "30" "869" "0" "869" "0" "c.869A>G" "r.(?)" "p.(Asn290Ser)" "" "0000858855" "00009856" "30" "639" "5" "639" "5" "c.639+5A>G" "r.spl?" "p.?" "" "0000858856" "00009856" "30" "282" "0" "282" "0" "c.282G>A" "r.(?)" "p.(Lys94=)" "" "0000885615" "00009856" "30" "1350" "0" "1350" "0" "c.1350G>A" "r.(?)" "p.(Pro450=)" "" "0000885616" "00009856" "50" "808" "0" "808" "0" "c.808G>T" "r.(?)" "p.(Gly270Cys)" "" "0000885617" "00009856" "30" "777" "20" "777" "20" "c.777+20A>G" "r.(=)" "p.(=)" "" "0000962540" "00009856" "10" "-25935" "0" "-25924" "0" "c.-25935_-25924dup" "r.(?)" "p.(=)" "" "0000975648" "00009856" "50" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Gly219Ser)" "" "0000975649" "00009856" "30" "-20284" "0" "-20284" "0" "c.-20284G>T" "r.(?)" "p.(=)" "" "0000975650" "00009856" "50" "-31532" "0" "-31532" "0" "c.-31532C>T" "r.(?)" "p.(=)" "" "0000993409" "00009856" "50" "683" "0" "683" "0" "c.683A>G" "r.(?)" "p.(His228Arg)" "" "0000993410" "00009856" "50" "-25784" "0" "-25784" "0" "c.-25784G>T" "r.(?)" "p.(=)" "" "0001033783" "00009856" "30" "1836" "10" "1836" "10" "c.1836+10A>G" "r.(=)" "p.(=)" "" "0001033784" "00009856" "30" "1665" "-7" "1665" "-7" "c.1665-7T>C" "r.(=)" "p.(=)" "" "0001033785" "00009856" "50" "1658" "0" "1658" "0" "c.1658A>T" "r.(?)" "p.(Asp553Val)" "" "0001033786" "00009856" "50" "1627" "0" "1627" "0" "c.1627G>A" "r.(?)" "p.(Asp543Asn)" "" "0001033787" "00009856" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Gln283*)" "" "0001033788" "00009856" "30" "777" "8" "777" "8" "c.777+8A>T" "r.(=)" "p.(=)" "" "0001033789" "00009856" "50" "-32673" "0" "-32673" "0" "c.-32673G>A" "r.(?)" "p.(=)" "" "0001033790" "00009856" "50" "-39162" "0" "-39162" "0" "c.-39162C>A" "r.(?)" "p.(=)" "" "0001051555" "00009856" "30" "2224" "-10" "2224" "-10" "c.2224-10del" "r.(=)" "p.(=)" "" "0001051556" "00009856" "50" "1883" "0" "1883" "0" "c.1883G>A" "r.(?)" "p.(Arg628Gln)" "" "0001051557" "00009856" "30" "1508" "0" "1508" "0" "c.1508T>G" "r.(?)" "p.(Ile503Ser)" "" "0001051558" "00009856" "50" "1052" "0" "1052" "0" "c.1052C>T" "r.(?)" "p.(Thr351Met)" "" "0001051559" "00009856" "50" "700" "0" "700" "0" "c.700T>G" "r.(?)" "p.(Ser234Ala)" "" "0001051560" "00009856" "50" "577" "0" "577" "0" "c.577A>G" "r.(?)" "p.(Lys193Glu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000058483" "0000089061" "0000294433" "0000651122" "0000306064" "0000669752" "0000389656" "0000818841" "0000389656" "0000818842" "0000389657" "0000818843" "0000389657" "0000818844" "0000389658" "0000818845" "0000389659" "0000818846" "0000389659" "0000818847"