### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IFT74) # 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}}" "IFT74" "intraflagellar transport 74 homolog (Chlamydomonas)" "9" "p21.1" "unknown" "NG_053083.1" "UD_132438599950" "" "https://www.LOVD.nl/IFT74" "" "1" "21424" "80173" "608040" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/IFT74_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-04-14 21:02:00" "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}}" "00009855" "IFT74" "transcript variant 1" "003" "NM_025103.2" "" "NP_079379.2" "" "" "" "-163" "2000" "1803" "26956371" "27062931" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "00259" "obesity" "obesity, susceptibility to (incl. leanness)" "AD;AR;Mu" "601665" "" "" "" "00006" "2013-10-28 15:05:17" "00006" "2022-01-13 16:46:00" "04212" "BBS" "Bardet-Biedl syndrome (BBS)" "" "" "" "" "" "00006" "2015-02-27 19:01:43" "" "" "05562" "SPGF" "spermatogenic failure (SPGF)" "" "" "" "" "" "00006" "2019-02-13 22:06:30" "" "" "06811" "BBS20" "Bardet-Biedl syndrome, type 20" "AR" "617119" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06923" "SPGF58" "spermatogenic failure, type 58" "AR" "619585" "" "" "" "00006" "2022-04-14 21:01:29" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "IFT74" "04212" "IFT74" "05562" "IFT74" "06811" "IFT74" "06923" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00269286" "" "" "" "1" "" "03477" "" "" "F" "no" "Netherlands" "11y" "0" "" "" "" "" "00358814" "" "" "" "1" "" "00000" "{PMID:Lindstrand 2016:27486776}" "" "F" "no" "United States" "" "0" "" "" "" "AR634-03" "00358815" "" "" "" "1" "" "00000" "{PMID:Lindstrand 2016:27486776}" "" "M" "no" "United States" "" "0" "" "" "" "AR672-04" "00388458" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "Unsolved case: biallelic causative mutations not identify" "" "" "" "" "0" "" "" "Latino" "R09-612A" "00388469" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "Unsolved case: biallelic causative mutations not identify" "" "" "" "" "0" "" "" "white" "R95-149" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00269286" "00259" "00358814" "04212" "00358815" "04212" "00388458" "00198" "00388469" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00259, 04212, 05562, 06811, 06923 ## 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}}" "0000210664" "00259" "00269286" "03477" "Familial, autosomal recessive" "11y" "postaxial polydactyly, retinal dystrophy, and childhood obesity, no renal problems and developmental delay or intellectual disability." "" "" "" "" "" "" "" "" "" "Initial diagnosis" "" "0000254029" "04212" "00358814" "00000" "Unknown" "17y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "" "0000254030" "04212" "00358815" "00000" "Unknown" "36y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bardet-Biedl Syndrome" "" "0000282010" "00198" "00388458" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000282021" "00198" "00388469" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS II)" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000270432" "00269286" "1" "03477" "03477" "2019-11-11 21:24:17" "" "" "SEQ-NG-I" "DNA" "" "" "0000360044" "00358814" "1" "00000" "00006" "2021-03-12 18:57:14" "" "" "arrayCGH;PCRlr;SEQ-NG" "DNA" "" "" "0000360045" "00358815" "1" "00000" "00006" "2021-03-12 18:57:14" "" "" "arrayCGH;PCRlr;SEQ-NG" "DNA" "" "" "0000389699" "00388458" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389710" "00388469" "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 = 7 "{{screeningid}}" "{{geneid}}" "0000270432" "IFT74" "0000360044" "BBS4" "0000360044" "BBS7" "0000360044" "IFT74" "0000360045" "IFT74" "0000389699" "IFT74" "0000389710" "DYNC2LI1" ## 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}}" "0000250146" "0" "10" "9" "26978168" "26978168" "subst" "0.00104133" "02329" "IFT74_000001" "g.26978168A>T" "" "" "" "IFT74(NM_001099222.2):c.163A>T (p.I55L), IFT74(NM_001099222.3):c.163A>T (p.I55L), IFT74(NM_001349928.2):c.163A>T (p.I55L), IFT74(NM_025103.4):c.163..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26978170A>T" "" "benign" "" "0000250147" "0" "10" "9" "26978170" "26978170" "subst" "0.110032" "02329" "IFT74_000009" "g.26978170A>G" "" "" "" "IFT74(NM_001099222.3):c.165A>G (p.I55M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26978172A>G" "" "benign" "" "0000250155" "0" "10" "9" "26978259" "26978259" "subst" "0.132902" "02329" "IFT74_000002" "g.26978259A>G" "" "" "" "IFT74(NM_001099222.3):c.254A>G (p.K85R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26978261A>G" "" "benign" "" "0000283450" "0" "30" "9" "27056376" "27056376" "subst" "0.0177934" "02329" "IFT74_000006" "g.27056376C>T" "" "" "" "IFT74(NM_001099222.3):c.1542C>T (p.A514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27056378C>T" "" "likely benign" "" "0000283451" "0" "30" "9" "27062666" "27062666" "subst" "0.00547525" "02329" "IFT74_000007" "g.27062666G>A" "" "" "" "IFT74(NM_001099222.2):c.1735G>A (p.V579M), IFT74(NM_001099222.3):c.1735G>A (p.V579M), IFT74(NM_025103.3):c.1735G>A (p.V579M), IFT74(NM_025103.4):c...." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27062668G>A" "" "likely benign" "" "0000283452" "0" "10" "9" "27062721" "27062721" "subst" "0.120048" "02329" "IFT74_000008" "g.27062721C>T" "" "" "" "IFT74(NM_001099222.3):c.1790C>T (p.T597I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27062723C>T" "" "benign" "" "0000283453" "0" "10" "9" "27009100" "27009100" "subst" "0.0626429" "02329" "IFT74_000004" "g.27009100T>C" "" "" "" "IFT74(NM_001099222.3):c.670T>C (p.F224L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27009102T>C" "" "benign" "" "0000283454" "0" "30" "9" "27011917" "27011917" "subst" "0.000160906" "02329" "IFT74_000005" "g.27011917T>A" "" "" "" "IFT74(NM_001099222.3):c.740T>A (p.L247H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27011919T>A" "" "likely benign" "" "0000537848" "0" "30" "9" "26978168" "26978168" "subst" "0.00104133" "01943" "IFT74_000001" "g.26978168A>T" "" "" "" "IFT74(NM_001099222.2):c.163A>T (p.I55L), IFT74(NM_001099222.3):c.163A>T (p.I55L), IFT74(NM_001349928.2):c.163A>T (p.I55L), IFT74(NM_025103.4):c.163..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26978170A>T" "" "likely benign" "" "0000537849" "0" "90" "9" "26980567" "26980567" "subst" "0" "01943" "IFT74_000010" "g.26980567A>G" "" "" "" "IFT74(NM_001099222.2):c.257-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26980569A>G" "" "pathogenic" "" "0000537850" "0" "10" "9" "26984277" "26984277" "subst" "0.036299" "02329" "IFT74_000011" "g.26984277A>G" "" "" "" "IFT74(NM_001099222.3):c.328A>G (p.T110A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26984279A>G" "" "benign" "" "0000537851" "0" "10" "9" "26984309" "26984309" "subst" "0.00519022" "01943" "IFT74_000012" "g.26984309A>G" "" "" "" "IFT74(NM_001099222.2):c.360A>G (p.E120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26984311A>G" "" "benign" "" "0000537852" "0" "70" "9" "26984320" "26984321" "del" "0" "02329" "IFT74_000013" "g.26984320_26984321del" "" "" "" "IFT74(NM_001099222.3):c.371_372delAA (p.Q124Rfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26984322_26984323del" "" "likely pathogenic" "" "0000537853" "0" "50" "9" "27009023" "27009023" "subst" "0" "01943" "IFT74_000014" "g.27009023A>G" "" "" "" "IFT74(NM_001099222.2):c.593A>G (p.E198G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27009025A>G" "" "VUS" "" "0000537854" "0" "30" "9" "27011895" "27011895" "del" "0" "02330" "IFT74_000015" "g.27011895del" "" "" "" "IFT74(NM_001099222.3):c.727-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27011897del" "" "likely benign" "" "0000537855" "0" "50" "9" "27018679" "27018679" "subst" "6.77564E-5" "01943" "IFT74_000016" "g.27018679A>G" "" "" "" "IFT74(NM_001099222.2):c.968A>G (p.E323G), IFT74(NM_025103.4):c.968A>G (p.E323G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27018681A>G" "" "VUS" "" "0000537856" "0" "90" "9" "27047371" "27047371" "dup" "0" "01943" "IFT74_000017" "g.27047371dup" "" "" "" "IFT74(NM_001099222.2):c.1206+2dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27047373dup" "" "pathogenic" "" "0000537857" "0" "70" "9" "27062615" "27062615" "subst" "2.10711E-5" "02329" "IFT74_000018" "g.27062615G>T" "" "" "" "IFT74(NM_001099222.3):c.1685-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27062617G>T" "" "likely pathogenic" "" "0000537858" "0" "30" "9" "27062666" "27062666" "subst" "0.00547525" "01943" "IFT74_000007" "g.27062666G>A" "" "" "" "IFT74(NM_001099222.2):c.1735G>A (p.V579M), IFT74(NM_001099222.3):c.1735G>A (p.V579M), IFT74(NM_025103.3):c.1735G>A (p.V579M), IFT74(NM_025103.4):c...." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27062668G>A" "" "likely benign" "" "0000537859" "0" "50" "9" "27062685" "27062685" "subst" "4.11597E-6" "01943" "IFT74_000019" "g.27062685A>G" "" "" "" "IFT74(NM_001099222.2):c.1754A>G (p.E585G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27062687A>G" "" "VUS" "" "0000604191" "21" "70" "9" "26984320" "26984321" "del" "0" "03477" "IFT74_000013" "g.26984320_26984321del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.26984322_26984323del" "" "likely pathogenic" "" "0000604192" "11" "70" "9" "27062615" "27062615" "subst" "2.10711E-5" "03477" "IFT74_000018" "g.27062615G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.27062617G>T" "{CV-RCV:000240867.2}" "likely pathogenic" "" "0000612067" "0" "30" "9" "26947471" "26947471" "subst" "0" "01943" "IFT74_000020" "g.26947471G>A" "" "" "" "IFT74(NM_001099222.2):c.-20+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26947473G>A" "" "likely benign" "" "0000612068" "0" "50" "9" "26978157" "26978157" "subst" "0.000112352" "01943" "IFT74_000021" "g.26978157G>A" "" "" "" "IFT74(NM_001349928.1):c.152G>A (p.R51H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26978159G>A" "" "VUS" "" "0000612069" "0" "30" "9" "26980615" "26980615" "subst" "0" "01943" "IFT74_000022" "g.26980615T>G" "" "" "" "IFT74(NM_001349928.1):c.303T>G (p.L101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26980617T>G" "" "likely benign" "" "0000612070" "0" "50" "9" "27062615" "27062615" "subst" "2.10711E-5" "02327" "IFT74_000018" "g.27062615G>T" "" "" "" "IFT74(NM_001099222.3):c.1685-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27062617G>T" "" "VUS" "" "0000690513" "0" "90" "9" "26962087" "26962087" "dup" "0" "01943" "IFT74_000023" "g.26962087dup" "" "" "" "IFT74(NM_001349928.1):c.120+2dupT, IFT74(NM_025103.4):c.120+2dup, IFT74(NM_025103.4):c.120+2dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000759695" "21" "90" "9" "27040564" "27060989" "del" "0" "00000" "IFT74_000024" "g.27040564_27060989del" "" "{PMID:Lindstrand 2016:27486776}" "" "del exon14_19 27040563-27060990del" "20,427 bp deletion, AluSz - AluY" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000759717" "0" "50" "9" "27062666" "27062666" "subst" "0.00547525" "00000" "IFT74_000007" "g.27062666G>A" "" "{PMID:Lindstrand 2016:27486776}" "" "" "benign" "Germline" "" "" "0" "" "" "g.27062668G>A" "" "VUS" "" "0000759719" "11" "90" "9" "27062615" "27062615" "subst" "2.10711E-5" "00000" "IFT74_000018" "g.27062615G>T" "" "{PMID:Lindstrand 2016:27486776}" "" "" "" "Germline" "" "rs200699377" "0" "" "" "g.27062617G>T" "" "pathogenic" "" "0000804071" "0" "30" "9" "27044752" "27044752" "subst" "4.24434E-6" "01943" "IFT74_000025" "g.27044752A>G" "" "" "" "IFT74(NM_001349928.1):c.1067A>G (p.Q356R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804072" "0" "50" "9" "27056423" "27056423" "subst" "2.14756E-5" "01943" "IFT74_000026" "g.27056423A>G" "" "" "" "IFT74(NM_001349928.1):c.1589A>G (p.K530R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000818904" "0" "70" "9" "27029102" "27029102" "subst" "8.57545E-6" "00000" "IFT74_000027" "g.27029102G>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001099222.1:c.1054G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000818926" "0" "70" "9" "26962087" "26962087" "dup" "0" "00000" "IFT74_000023" "g.26962087dup" "" "{PMID:Zhang-2019:29068549}" "" "NM_001099222.1:c.120+2dup" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000852233" "0" "30" "9" "26980615" "26980615" "subst" "0" "01943" "IFT74_000028" "g.26980615T>C" "" "" "" "IFT74(NM_001349928.1):c.303T>C (p.L101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852234" "0" "50" "9" "27009043" "27009043" "subst" "8.1576E-6" "01943" "IFT74_000031" "g.27009043G>A" "" "" "" "IFT74(NM_001349928.1):c.613G>A (p.E205K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852235" "0" "50" "9" "27018679" "27018679" "subst" "6.77564E-5" "02326" "IFT74_000016" "g.27018679A>G" "" "" "" "IFT74(NM_001099222.2):c.968A>G (p.E323G), IFT74(NM_025103.4):c.968A>G (p.E323G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852236" "0" "10" "9" "27036487" "27036487" "subst" "0.00203182" "02330" "IFT74_000032" "g.27036487C>T" "" "" "" "IFT74(NM_001099224.3):c.1094C>T (p.T365I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852237" "0" "30" "9" "27062666" "27062666" "subst" "0.00547525" "02330" "IFT74_000007" "g.27062666G>A" "" "" "" "IFT74(NM_001099222.2):c.1735G>A (p.V579M), IFT74(NM_001099222.3):c.1735G>A (p.V579M), IFT74(NM_025103.3):c.1735G>A (p.V579M), IFT74(NM_025103.4):c...." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852238" "0" "50" "9" "27062709" "27062709" "subst" "0" "01943" "IFT74_000034" "g.27062709C>T" "" "" "" "IFT74(NM_025103.3):c.1778C>T (p.A593V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861613" "0" "30" "9" "26984324" "26984324" "subst" "0.00266787" "02326" "IFT74_000029" "g.26984324G>A" "" "" "" "IFT74(NM_001349928.2):c.375G>A (p.E125=), IFT74(NM_025103.4):c.375G>A (p.E125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861614" "0" "50" "9" "26984358" "26984358" "subst" "0" "02330" "IFT74_000030" "g.26984358G>A" "" "" "" "IFT74(NM_001099222.1):c.404+5G>A (p.?), IFT74(NM_001349928.2):c.404+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861615" "0" "50" "9" "27047373" "27047373" "subst" "8.49178E-6" "02330" "IFT74_000033" "g.27047373A>G" "" "" "" "IFT74(NM_001099222.1):c.1206+4A>G (p.?), IFT74(NM_001349928.2):c.1206+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888794" "0" "10" "9" "26984324" "26984324" "subst" "0.00266787" "02330" "IFT74_000029" "g.26984324G>A" "" "" "" "IFT74(NM_001349928.2):c.375G>A (p.E125=), IFT74(NM_025103.4):c.375G>A (p.E125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888795" "0" "50" "9" "26984358" "26984358" "subst" "0" "01804" "IFT74_000030" "g.26984358G>A" "" "" "" "IFT74(NM_001099222.1):c.404+5G>A (p.?), IFT74(NM_001349928.2):c.404+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888796" "0" "70" "9" "27029034" "27029034" "del" "0" "02330" "IFT74_000035" "g.27029034del" "" "" "" "IFT74(NM_001349928.2):c.986delC (p.T329Kfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000888797" "0" "50" "9" "27047373" "27047373" "subst" "8.49178E-6" "01804" "IFT74_000033" "g.27047373A>G" "" "" "" "IFT74(NM_001099222.1):c.1206+4A>G (p.?), IFT74(NM_001349928.2):c.1206+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913142" "0" "30" "9" "27047252" "27047253" "del" "0.000210319" "02326" "IFT74_000036" "g.27047252_27047253del" "" "" "" "IFT74(NM_025103.4):c.1109-20_1109-19delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925029" "0" "30" "9" "26978168" "26978168" "subst" "0.00104133" "02326" "IFT74_000001" "g.26978168A>T" "" "" "" "IFT74(NM_001099222.2):c.163A>T (p.I55L), IFT74(NM_001099222.3):c.163A>T (p.I55L), IFT74(NM_001349928.2):c.163A>T (p.I55L), IFT74(NM_025103.4):c.163..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925030" "0" "90" "9" "27029023" "27029030" "del" "0" "02326" "IFT74_000037" "g.27029023_27029030del" "" "" "" "IFT74(NM_025103.4):c.975-5_977delAACAGGTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929586" "0" "30" "9" "26984494" "26984494" "subst" "0.00234202" "02330" "IFT74_000038" "g.26984494C>T" "" "" "" "IFT74(NM_001349928.2):c.405-3C>T, IFT74(NM_025103.4):c.405-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949262" "0" "30" "9" "26984494" "26984494" "subst" "0.00234202" "02326" "IFT74_000038" "g.26984494C>T" "" "" "" "IFT74(NM_001349928.2):c.405-3C>T, IFT74(NM_025103.4):c.405-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949263" "0" "30" "9" "27055671" "27055671" "subst" "0.000476307" "02330" "IFT74_000039" "g.27055671A>C" "" "" "" "IFT74(NM_001349928.2):c.1398A>C (p.E466D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965365" "0" "30" "9" "26978168" "26978168" "subst" "0.00104133" "02330" "IFT74_000001" "g.26978168A>T" "" "" "" "IFT74(NM_001099222.2):c.163A>T (p.I55L), IFT74(NM_001099222.3):c.163A>T (p.I55L), IFT74(NM_001349928.2):c.163A>T (p.I55L), IFT74(NM_025103.4):c.163..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965366" "0" "30" "9" "27029105" "27029105" "subst" "0.00139438" "02330" "IFT74_000040" "g.27029105A>T" "" "" "" "IFT74(NM_001349928.2):c.1054+3A>T, IFT74(NM_025103.4):c.1054+3A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978663" "0" "70" "9" "26962087" "26962087" "dup" "0" "02326" "IFT74_000023" "g.26962087dup" "" "" "" "IFT74(NM_001349928.1):c.120+2dupT, IFT74(NM_025103.4):c.120+2dup, IFT74(NM_025103.4):c.120+2dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000978664" "0" "30" "9" "27029105" "27029105" "subst" "0.00139438" "02326" "IFT74_000040" "g.27029105A>T" "" "" "" "IFT74(NM_001349928.2):c.1054+3A>T, IFT74(NM_025103.4):c.1054+3A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978665" "0" "30" "9" "27062722" "27062722" "subst" "0.000825264" "02330" "IFT74_000041" "g.27062722C>T" "" "" "" "IFT74(NM_001099222.3):c.1791C>T (p.T597=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037473" "0" "50" "9" "26962087" "26962087" "dup" "0" "01804" "IFT74_000023" "g.26962087dup" "" "" "" "IFT74(NM_001349928.1):c.120+2dupT, IFT74(NM_025103.4):c.120+2dup, IFT74(NM_025103.4):c.120+2dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037474" "0" "50" "9" "26962089" "26962089" "subst" "0" "01804" "IFT74_000042" "g.26962089A>G" "" "" "" "IFT74(NM_025103.4):c.120+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037475" "0" "50" "9" "27056334" "27056334" "subst" "2.72933E-5" "01804" "IFT74_000043" "g.27056334A>G" "" "" "" "IFT74(NM_025103.4):c.1500A>G (p.(Lys500=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053222" "0" "50" "9" "27060647" "27060647" "subst" "8.27732E-6" "01804" "IFT74_000044" "g.27060647A>G" "" "" "" "IFT74(NM_025103.4):c.1682A>G (p.(Glu561Gly))" "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 IFT74 ## 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}}" "0000250146" "00009855" "10" "163" "0" "163" "0" "c.163A>T" "r.(?)" "p.(Ile55Leu)" "" "0000250147" "00009855" "10" "165" "0" "165" "0" "c.165A>G" "r.(?)" "p.(Ile55Met)" "" "0000250155" "00009855" "10" "254" "0" "254" "0" "c.254A>G" "r.(?)" "p.(Lys85Arg)" "" "0000283450" "00009855" "30" "1542" "0" "1542" "0" "c.1542C>T" "r.(?)" "p.(Ala514=)" "" "0000283451" "00009855" "30" "1735" "0" "1735" "0" "c.1735G>A" "r.(?)" "p.(Val579Met)" "" "0000283452" "00009855" "10" "1790" "0" "1790" "0" "c.1790C>T" "r.(?)" "p.(Thr597Ile)" "" "0000283453" "00009855" "10" "670" "0" "670" "0" "c.670T>C" "r.(?)" "p.(Phe224Leu)" "" "0000283454" "00009855" "30" "740" "0" "740" "0" "c.740T>A" "r.(?)" "p.(Leu247His)" "" "0000537848" "00009855" "30" "163" "0" "163" "0" "c.163A>T" "r.(?)" "p.(Ile55Leu)" "" "0000537849" "00009855" "90" "257" "-2" "257" "-2" "c.257-2A>G" "r.spl?" "p.?" "" "0000537850" "00009855" "10" "328" "0" "328" "0" "c.328A>G" "r.(?)" "p.(Thr110Ala)" "" "0000537851" "00009855" "10" "360" "0" "360" "0" "c.360A>G" "r.(?)" "p.(Glu120=)" "" "0000537852" "00009855" "70" "371" "0" "372" "0" "c.371_372del" "r.(?)" "p.(Gln124ArgfsTer9)" "" "0000537853" "00009855" "50" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(Glu198Gly)" "" "0000537854" "00009855" "30" "727" "-9" "727" "-9" "c.727-9del" "r.(=)" "p.(=)" "" "0000537855" "00009855" "50" "968" "0" "968" "0" "c.968A>G" "r.(?)" "p.(Glu323Gly)" "" "0000537856" "00009855" "90" "1206" "2" "1206" "2" "c.1206+2dup" "r.spl?" "p.?" "" "0000537857" "00009855" "70" "1685" "-1" "1685" "-1" "c.1685-1G>T" "r.spl?" "p.?" "" "0000537858" "00009855" "30" "1735" "0" "1735" "0" "c.1735G>A" "r.(?)" "p.(Val579Met)" "" "0000537859" "00009855" "50" "1754" "0" "1754" "0" "c.1754A>G" "r.(?)" "p.(Glu585Gly)" "" "0000604191" "00009855" "70" "371" "0" "372" "0" "c.371_372del" "r.(?)" "p.(Gln124Argfs*9)" "" "0000604192" "00009855" "70" "1685" "-1" "1685" "-1" "c.1685-1G>T" "r.spl" "p.?" "" "0000612067" "00009855" "30" "-9063" "0" "-9063" "0" "c.-9063G>A" "r.(?)" "p.(=)" "" "0000612068" "00009855" "50" "152" "0" "152" "0" "c.152G>A" "r.(?)" "p.(Arg51His)" "" "0000612069" "00009855" "30" "303" "0" "303" "0" "c.303T>G" "r.(?)" "p.(Leu101=)" "" "0000612070" "00009855" "50" "1685" "-1" "1685" "-1" "c.1685-1G>T" "r.spl?" "p.?" "" "0000690513" "00009855" "90" "120" "2" "120" "2" "c.120+2dup" "r.spl?" "p.?" "" "0000759695" "00009855" "90" "1055" "-4176" "1684" "340" "c.1055-4176_1684+340del" "r.(?)" "p.(Gly352_Phe562delinsVal)" "" "0000759717" "00009855" "50" "1735" "0" "1735" "0" "c.1735G>A" "r.(?)" "p.(Val579Met)" "" "0000759719" "00009855" "90" "1685" "-1" "1685" "-1" "c.1685-1G>T" "r.spl" "p.?" "" "0000804071" "00009855" "30" "1067" "0" "1067" "0" "c.1067A>G" "r.(?)" "p.(Gln356Arg)" "" "0000804072" "00009855" "50" "1589" "0" "1589" "0" "c.1589A>G" "r.(?)" "p.(Lys530Arg)" "" "0000818904" "00009855" "70" "1054" "0" "1054" "0" "c.1054G>T" "r.(?)" "p.(Gly352Cys)" "13" "0000818926" "00009855" "70" "120" "2" "120" "2" "c.120+2dup" "r.spl?" "p.?" "2i" "0000852233" "00009855" "30" "303" "0" "303" "0" "c.303T>C" "r.(?)" "p.(Leu101=)" "" "0000852234" "00009855" "50" "613" "0" "613" "0" "c.613G>A" "r.(?)" "p.(Glu205Lys)" "" "0000852235" "00009855" "50" "968" "0" "968" "0" "c.968A>G" "r.(?)" "p.(Glu323Gly)" "" "0000852236" "00009855" "10" "1054" "7385" "1054" "7385" "c.1054+7385C>T" "r.(=)" "p.(=)" "" "0000852237" "00009855" "30" "1735" "0" "1735" "0" "c.1735G>A" "r.(?)" "p.(Val579Met)" "" "0000852238" "00009855" "50" "1778" "0" "1778" "0" "c.1778C>T" "r.(?)" "p.(Ala593Val)" "" "0000861613" "00009855" "30" "375" "0" "375" "0" "c.375G>A" "r.(?)" "p.(Glu125=)" "" "0000861614" "00009855" "50" "404" "5" "404" "5" "c.404+5G>A" "r.spl?" "p.?" "" "0000861615" "00009855" "50" "1206" "4" "1206" "4" "c.1206+4A>G" "r.spl?" "p.?" "" "0000888794" "00009855" "10" "375" "0" "375" "0" "c.375G>A" "r.(?)" "p.(Glu125=)" "" "0000888795" "00009855" "50" "404" "5" "404" "5" "c.404+5G>A" "r.spl?" "p.?" "" "0000888796" "00009855" "70" "986" "0" "986" "0" "c.986del" "r.(?)" "p.(Thr329Lysfs*5)" "" "0000888797" "00009855" "50" "1206" "4" "1206" "4" "c.1206+4A>G" "r.spl?" "p.?" "" "0000913142" "00009855" "30" "1109" "-20" "1109" "-19" "c.1109-20_1109-19del" "r.(=)" "p.(=)" "" "0000925029" "00009855" "30" "163" "0" "163" "0" "c.163A>T" "r.(?)" "p.(Ile55Leu)" "" "0000925030" "00009855" "90" "975" "0" "982" "0" "c.975_982del" "r.(?)" "p.(Leu326Tyrfs*10)" "" "0000929586" "00009855" "30" "405" "-3" "405" "-3" "c.405-3C>T" "r.spl?" "p.?" "" "0000949262" "00009855" "30" "405" "-3" "405" "-3" "c.405-3C>T" "r.spl?" "p.?" "" "0000949263" "00009855" "30" "1398" "0" "1398" "0" "c.1398A>C" "r.(?)" "p.(Glu466Asp)" "" "0000965365" "00009855" "30" "163" "0" "163" "0" "c.163A>T" "r.(?)" "p.(Ile55Leu)" "" "0000965366" "00009855" "30" "1054" "3" "1054" "3" "c.1054+3A>T" "r.spl?" "p.?" "" "0000978663" "00009855" "70" "120" "2" "120" "2" "c.120+2dup" "r.spl?" "p.?" "" "0000978664" "00009855" "30" "1054" "3" "1054" "3" "c.1054+3A>T" "r.spl?" "p.?" "" "0000978665" "00009855" "30" "1791" "0" "1791" "0" "c.1791C>T" "r.(?)" "p.(=)" "" "0001037473" "00009855" "50" "120" "2" "120" "2" "c.120+2dup" "r.spl?" "p.?" "" "0001037474" "00009855" "50" "120" "4" "120" "4" "c.120+4A>G" "r.spl?" "p.?" "" "0001037475" "00009855" "50" "1500" "0" "1500" "0" "c.1500A>G" "r.(?)" "p.(=)" "" "0001053222" "00009855" "50" "1682" "0" "1682" "0" "c.1682A>G" "r.(?)" "p.(Glu561Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000270432" "0000604191" "0000270432" "0000604192" "0000360044" "0000759717" "0000360045" "0000759695" "0000360045" "0000759719" "0000389699" "0000818904" "0000389710" "0000818926"