### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = IFT81)
# 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}}"
"IFT81" "intraflagellar transport 81 homolog (Chlamydomonas)" "12" "q24.13" "unknown" "NG_052859.1" "UD_136019063370" "" "https://www.LOVD.nl/IFT81" "" "1" "14313" "28981" "605489" "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/IFT81_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-11-11 09:46:25" "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}}"
"00009857" "IFT81" "transcript variant 1" "001" "NM_014055.3" "" "NP_054774.2" "" "" "" "-548" "2600" "2031" "110562140" "110656600" "" "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"
"00381" "RD" "dystrophy, retinal (RD)" "" "" "" "" "" "00006" "2014-05-09 11:59:52" "00006" "2015-12-07 07:11:25"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"04249" "macular dystrophy" "dystrophy, macular" "" "" "" "" "" "00006" "2015-05-04 22:10:58" "00006" "2024-02-15 21:18:39"
"05635" "SRTD" "dysplasia, short-rib thoracic, with/without polydactyly (SRTD) (Jeune syndrome)" "" "" "" "" "" "00006" "2019-07-28 13:54:33" "" ""
"05875" "SRTD19" "dysplasia, thoracic, short-rib, type 19 with/without polydactyly (SRTD19)" "AR" "617895" "" "" "" "00006" "2020-11-11 09:42:18" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"IFT81" "05875"
## Individuals ## Do not remove or alter this header ##
## Count = 8
"{{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}}"
"00328441" "" "" "" "1" "" "03849" "{PMID:Perreault 2015:26275418}, {DOI:Perrault 2015:10.1136/jmedgenet-2014-102838}" "" "F" "yes" "Egypt" ">05y" "0" "" "" "" "Fam1PatA3286-21"
"00328442" "" "" "" "1" "" "03849" "{PMID:Perreault 2015:26275418}, {DOI:Perrault 2015:10.1136/jmedgenet-2014-102838}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Algeria" ">11y" "0" "" "" "" "Fam2PatNCK-033"
"00328443" "" "" "" "1" "" "03849" "{PMID:Ashraf 2020:32783357}, {DOI:Ashraf 2020:10.1002/ajmg.a.61781}" "2-generation family, one affected male, unaffected heterozygous carrier parents" "M" "no" "Romania" ">11y" "0" "" "" "" "FAM1Pat:3"
"00395560" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-0132"
"00395830" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F035"
"00413791" "" "" "" "1" "" "00000" "{PMID:Dharmat-2017:28460050}" "" "F" "" "" "" "0" "" "" "" ""
"00420416" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F035"
"00451223" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072178"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 8
"{{individualid}}" "{{diseaseid}}"
"00328441" "00198"
"00328442" "00381"
"00328443" "05635"
"00395560" "04214"
"00395830" "04214"
"00413791" "04214"
"00420416" "04214"
"00451223" "04249"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00381, 04214, 04249, 05635, 05875
## Count = 7
"{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000246667" "00381" "00328442" "03849" "Familial, autosomal recessive" "11y" "4y-Intellectual disability mild (HP:0001256), 4y-Visual loss (HP:0000572), 4y-speech delay (HP:0000750), 7y-Abnormality of eye movement (HP:0000496), 7y-hemeralopia (HP:0012047), 7y-poor vision (HP:0000505), 11y-blindness (HP:0000618), 9,5y-polyuria (HP:0000103), 9,5y-polydipsia (HP:0001959), cerebellar atrophy (HP:0001272), poor speech (HP:0002465), echolalia (HP:0010529)," "04y" "" "4y-Intellectual disability mild (HP:0001256), 4y-Visual loss (HP:0000572), 4y-speech delay (HP:0000750)," "" "" "" "" "RD" "RD" ""
"0000246668" "00198" "00328441" "03849" "Familial, autosomal recessive" "05y" "see paper; ..., 1y6m-bilateral hyperechogenic kidneys (HP:0004719), loss of corticomedullary differentiation, small medullary cysts; intellectual disability moderate (HP:0002342), speech delay; 1d-postaxial foot polydactyly (HP:0001830)" "" "" "" "" "" "" "" "" "renoocular ciliopathy" ""
"0000246669" "05635" "00328443" "03849" "Familial, autosomal recessive" "" "Rectal atresia (HP_0025023), Abnormal facial shape (HP:0001999), polydactyly of the hand (HP:0001161), deep grooves on the plantar surfaces of his feet, Echogenic kidneys, narrow thorax (HP:0000774), dolichocephaly (HP:0000268), Reduced renal corticomedullary differentiation (HP:0005565), micropenis (HP:0000054), dextrocardia (HP:0001651), situs inversus (HP:0001696), short ribs (HP:0000773), speech delay (HP:0000750), mild intellectual disability (HP:0001256)" "" "" "Rectal atresia (HP_0025023), polydactyly of the hand (HP:0001161) narrow thorax (HP:0000774), dolichocephaly (HP:0000268), Reduced renal corticomedullary differentiation (HP:0005565), short ribs (HP:0000773), speech delay (HP:0000750)" "" "" "" "" "short-rib polydactyly syndromes (SRPS)" "short-rib polydactyly syndromes (SRPS)" ""
"0000288758" "04214" "00395560" "00000" "Familial, autosomal recessive" "" "cataract, glaucoma, rod-cone dystrophy, mixed hearing impairment, diabetes insipidus, hypothalamic hypothyroidism, abnormality of higher mental function, depression, neurosis, fibromyalgia, joint rheumatism, osteopenia, spinal osteoarthritis, cheilitis, azoospermia, oligospermia" "" "" "" "" "" "" "" "Skeletal cilioptic atrophythy" "" ""
"0000288992" "04214" "00395830" "00000" "Unknown" "61y10m" "" "60y" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000305756" "04214" "00413791" "00000" "Familial, autosomal recessive" "22y" "impaired color vision and poor visual acuity (left eye, 0.05; right eye, 0.06); oval shaped macular hypofluorescence with a hyperfluorescent ring; reduced responses in both rod and cone cells, with more severe cone function loss and thinning of retina layers in the macular area" "12y" "" "progressive decrease in vision with photophobia" "" "" "" "" "" "cone-rod dystrophy (CRD)" ""
"0000311664" "04214" "00420416" "00000" "Familial, autosomal recessive" "61y10m" "" "60y" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 8
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000329656" "00328441" "1" "03849" "03849" "2021-01-27 17:44:44" "03849" "2021-01-27 17:57:17" "SEQ;SEQ-NG-I" "DNA" "blood" "JensDoets"
"0000329657" "00328442" "1" "03849" "03849" "2021-01-27 17:55:02" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" ""
"0000329658" "00328443" "1" "03849" "03849" "2021-01-27 20:09:17" "00006" "2021-01-28 08:46:30" "RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "blood" "WES"
"0000396798" "00395560" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing"
"0000397069" "00395830" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000415071" "00413791" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000421725" "00420416" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000452822" "00451223" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 7
"{{screeningid}}" "{{geneid}}"
"0000329656" "IFT81"
"0000329657" "IFT81"
"0000329658" "IFT81"
"0000396798" "IFT81"
"0000397069" "IFT81"
"0000415071" "IFT81"
"0000421725" "IFT81"
## 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 = 43
"{{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}}"
"0000546474" "0" "10" "12" "110566955" "110566955" "subst" "0" "02330" "IFT81_000001" "g.110566955T>C" "" "" "" "IFT81(NM_014055.4):c.429+20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110129150T>C" "" "benign" ""
"0000546475" "0" "10" "12" "110574598" "110574598" "subst" "0.00101036" "02330" "IFT81_000002" "g.110574598A>C" "" "" "" "IFT81(NM_014055.4):c.714A>C (p.Q238H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110136793A>C" "" "benign" ""
"0000546476" "0" "10" "12" "110581197" "110581197" "subst" "0.00025205" "02330" "IFT81_000003" "g.110581197G>A" "" "" "" "IFT81(NM_014055.4):c.792G>A (p.K264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110143392G>A" "" "benign" ""
"0000546477" "0" "10" "12" "110605664" "110605669" "del" "0" "02330" "IFT81_000004" "g.110605664_110605669del" "" "" "" "IFT81(NM_014055.4):c.1188+4794_1188+4799delTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110167859_110167864del" "" "benign" ""
"0000546478" "0" "10" "12" "110605665" "110605669" "del" "0" "02330" "IFT81_000005" "g.110605665_110605669del" "" "" "" "IFT81(NM_014055.4):c.1188+4795_1188+4799delTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110167860_110167864del" "" "benign" ""
"0000546479" "0" "10" "12" "110605666" "110605669" "del" "0" "02330" "IFT81_000006" "g.110605666_110605669del" "" "" "" "IFT81(NM_014055.4):c.1188+4796_1188+4799delTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110167861_110167864del" "" "benign" ""
"0000546480" "0" "10" "12" "110641728" "110641728" "subst" "0" "02330" "IFT81_000007" "g.110641728C>T" "" "" "" "IFT81(NM_014055.4):c.1617C>T (p.L539=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110203923C>T" "" "benign" ""
"0000622780" "0" "30" "12" "110655968" "110655968" "subst" "9.13793E-6" "02330" "IFT81_000008" "g.110655968A>G" "" "" "" "IFT81(NM_014055.4):c.1968A>G (p.Q656=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110218163A>G" "" "likely benign" ""
"0000679394" "0" "30" "12" "110618289" "110618289" "subst" "0.000223697" "01943" "IFT81_000009" "g.110618289A>C" "" "" "" "IFT81(NM_014055.3):c.1251A>C (p.I417=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000691237" "0" "70" "12" "110570442" "110570442" "subst" "0" "01943" "IFT81_000010" "g.110570442G>A" "" "" "" "IFT81(NM_014055.3):c.519+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000691238" "0" "90" "12" "110656023" "110656023" "del" "0" "01943" "IFT81_000011" "g.110656023del" "" "" "" "IFT81(NM_014055.3):c.2023delA (p.I675Yfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000714010" "0" "90" "12" "110600871" "110600871" "subst" "0" "03849" "IFT81_000012" "g.110600871G>A" "" "{PMID:Perreault 2015:26275418}, {DOI:Perrault 2015:10.1136/jmedgenet-2014-102838}" "" "" "" "Germline" "?" "" "0" "" "" "g.110163066G>A" "" "pathogenic (recessive)" ""
"0000714011" "3" "90" "12" "110656015" "110656019" "del" "0" "03849" "IFT81_000013" "g.110656015_110656019del" "" "{PMID:Perreault 2015:26275418}, {DOI:Perrault 2015:10.1136/jmedgenet-2014-102838}" "" "" "" "Germline" "?" "" "0" "" "" "g.110218210_110218214del" "" "pathogenic (recessive)" ""
"0000714013" "1" "90" "12" "110655934" "110655934" "subst" "0" "03849" "IFT81_000014" "g.110655934T>G" "" "{PMID:Ashraf 2020:32783357}, {DOI:Ashraf 2020:10.1002/ajmg.a.61781}" "" "1934_1937delinsGAAG" "" "Germline" "?" "" "0" "" "" "g.110218129T>G" "" "likely pathogenic (recessive)" "ACMG"
"0000714015" "1" "50" "12" "110655937" "110655937" "subst" "0" "03849" "IFT81_000015" "g.110655937T>G" "" "{PMID:Ashraf 2020:32783357}, {DOI:Ashraf 2020:10.1002/ajmg.a.61781}" "" "1934_1937delinsGAAG" "variant not translated because of upstream translational stop" "Germline" "" "" "0" "" "" "" "" "VUS (!)" ""
"0000714016" "2" "90" "12" "110630514" "110630517" "del" "0" "03849" "IFT81_000016" "g.110630514_110630517del" "" "{PMID:Ashraf 2020:32783357}, {DOI:Ashraf 2020:10.1002/ajmg.a.61781}" "" "" "" "Germline" "" "" "0" "" "" "g.110192709_110192712del" "" "likely pathogenic (recessive)" "ACMG"
"0000723823" "0" "30" "12" "110600716" "110600716" "subst" "4.24193E-6" "01943" "IFT81_000017" "g.110600716T>G" "" "" "" "IFT81(NM_014055.3):c.1042-8T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000723824" "0" "30" "12" "110600786" "110600786" "subst" "8.12288E-6" "01943" "IFT81_000018" "g.110600786G>A" "" "" "" "IFT81(NM_014055.3):c.1104G>A (p.K368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805519" "0" "50" "12" "110565250" "110565250" "subst" "0.00133536" "01943" "IFT81_000019" "g.110565250A>C" "" "" "" "IFT81(NM_014055.3):c.65A>C (p.N22T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000805520" "0" "30" "12" "110574598" "110574598" "subst" "0.00101036" "02326" "IFT81_000002" "g.110574598A>C" "" "" "" "IFT81(NM_014055.4):c.714A>C (p.Q238H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805521" "0" "30" "12" "110584775" "110584775" "subst" "4.13148E-6" "01943" "IFT81_000020" "g.110584775A>G" "" "" "" "IFT81(NM_014055.3):c.963A>G (p.T321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000828476" "3" "70" "12" "110655969" "110655969" "subst" "0" "00000" "IFT81_000022" "g.110655969C>T" "" "{PMID:Perea-Romero 2021:34448047}" "" "IFT81, c.1969C>T, p.Gln657*, homozygous" "" "Germline" "yes" "" "0" "" "" "g.110218164C>T" "" "likely pathogenic" "ACMG"
"0000828815" "0" "70" "12" "110565291" "110565291" "subst" "0" "00000" "IFT81_000021" "g.110565291C>G" "" "{PMID:Chen 2021:43360855}" "" "IFT81 c.106C>G(;)714A>C, V1: c.106C>G, (p.Gln36Glu)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.110127486C>G" "" "likely pathogenic" "ACMG"
"0000829020" "0" "50" "12" "110574598" "110574598" "subst" "0.00101036" "00000" "IFT81_000002" "g.110574598A>C" "" "{PMID:Chen 2021:43360855}" "" "IFT81 c.106C>G(;)714A>C, V2: c.714A>C, (p.Gln238His)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.110136793A>C" "" "VUS" "ACMG"
"0000853254" "0" "30" "12" "110600880" "110600880" "subst" "4.08841E-6" "01943" "IFT81_000023" "g.110600880G>A" "" "" "" "IFT81(NM_014055.3):c.1188+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000862795" "0" "30" "12" "110618313" "110618313" "subst" "0.000142339" "02326" "IFT81_000024" "g.110618313C>T" "" "" "" "IFT81(NM_014055.4):c.1275C>T (p.F425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000862796" "0" "30" "12" "110641728" "110641728" "subst" "0" "02326" "IFT81_000007" "g.110641728C>T" "" "" "" "IFT81(NM_014055.4):c.1617C>T (p.L539=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000872813" "21" "90" "12" "110618251" "110618251" "subst" "4.12334E-6" "00000" "IFT81_000025" "g.110618251C>T" "" "{PMID:Dharmat-2017:28460050}" "" "NM_001143779: c.1213C>T,p.R405*" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000872814" "11" "70" "12" "110647014" "110647014" "subst" "4.16677E-6" "00000" "IFT81_000026" "g.110647014T>C" "" "{PMID:Dharmat-2017:28460050}" "" "NM_001143779: c.1841T>C, p.L614P" "pathogenicity supported by both in vivo and in vitro functional studies" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000890259" "0" "30" "12" "110565352" "110565352" "del" "0" "02326" "IFT81_000027" "g.110565352del" "" "" "" "IFT81(NM_014055.4):c.144+23delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000896484" "0" "70" "12" "110565291" "110565291" "subst" "0" "00000" "IFT81_000021" "g.110565291C>G" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "IFT81 c.106C>G(;)714A>C; p.(Gln36Glu)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.110127486C>G" "" "likely pathogenic" ""
"0000896485" "0" "50" "12" "110574598" "110574598" "subst" "0.00101036" "00000" "IFT81_000002" "g.110574598A>C" "Taiwan Biobank: 0.001318; GnomAD_exome_East: 0.0137; GnomAD_All: 0.00105" "{PMID:Chen 2021:33608557}" "" "IFT81 c.106C>G(;)714A>C; p.(Gln238His)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.110136793A>C" "" "VUS" ""
"0000913740" "0" "30" "12" "110618313" "110618313" "subst" "0.000142339" "02330" "IFT81_000024" "g.110618313C>T" "" "" "" "IFT81(NM_014055.4):c.1275C>T (p.F425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000949834" "0" "30" "12" "110566907" "110566907" "subst" "0.0209868" "01804" "IFT81_000028" "g.110566907A>G" "" "" "" "IFT81(NM_001143779.1):c.401A>G (p.(Asp134Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000966683" "0" "50" "12" "110566841" "110566841" "subst" "4.20989E-6" "02327" "IFT81_000029" "g.110566841T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000966684" "0" "30" "12" "110574677" "110574677" "subst" "0" "02330" "IFT81_000030" "g.110574677T>C" "" "" "" "IFT81(NM_014055.4):c.781+12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000987167" "0" "90" "12" "110565896" "110565896" "subst" "8.12321E-6" "00006" "IFT81_000031" "g.110565896C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.110128091C>T" "" "pathogenic" "ACMG"
"0000999608" "0" "30" "12" "110618322" "110618322" "subst" "0" "01804" "IFT81_000032" "g.110618322G>T" "" "" "" "IFT81(NM_014055.3):c.1284G>T (p.(Leu428Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001026094" "0" "90" "12" "110618251" "110618251" "subst" "4.12334E-6" "02326" "IFT81_000025" "g.110618251C>T" "" "" "" "IFT81(NM_014055.4):c.1213C>T (p.R405*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001038932" "0" "50" "12" "110600832" "110600832" "subst" "1.62443E-5" "01804" "IFT81_000033" "g.110600832C>T" "" "" "" "IFT81(NM_014055.4):c.1150C>T (p.(Arg384Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001038933" "0" "30" "12" "110605745" "110605745" "subst" "0.00410043" "01804" "IFT81_000034" "g.110605745C>T" "" "" "" "IFT81(NM_001347946.2):c.1258C>T (p.(Leu420Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001038934" "0" "50" "12" "110655954" "110655954" "subst" "0.000218045" "01804" "IFT81_000035" "g.110655954T>C" "" "" "" "IFT81(NM_014055.4):c.1954T>C (p.(Cys652Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001054485" "0" "50" "12" "110656015" "110656019" "del" "0" "01804" "IFT81_000013" "g.110656015_110656019del" "" "" "" "IFT81(NM_014055.4):c.2015_2019del (p.(Asp672Alafs*15))" "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 IFT81
## Count = 43
"{{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}}"
"0000546474" "00009857" "10" "429" "20" "429" "20" "c.429+20T>C" "r.(=)" "p.(=)" ""
"0000546475" "00009857" "10" "714" "0" "714" "0" "c.714A>C" "r.(?)" "p.(Gln238His)" ""
"0000546476" "00009857" "10" "792" "0" "792" "0" "c.792G>A" "r.(?)" "p.(Lys264=)" ""
"0000546477" "00009857" "10" "1188" "4794" "1188" "4799" "c.1188+4794_1188+4799del" "r.(=)" "p.(=)" ""
"0000546478" "00009857" "10" "1188" "4795" "1188" "4799" "c.1188+4795_1188+4799del" "r.(=)" "p.(=)" ""
"0000546479" "00009857" "10" "1188" "4796" "1188" "4799" "c.1188+4796_1188+4799del" "r.(=)" "p.(=)" ""
"0000546480" "00009857" "10" "1617" "0" "1617" "0" "c.1617C>T" "r.(?)" "p.(Leu539=)" ""
"0000622780" "00009857" "30" "1968" "0" "1968" "0" "c.1968A>G" "r.(?)" "p.(Gln656=)" ""
"0000679394" "00009857" "30" "1251" "0" "1251" "0" "c.1251A>C" "r.(?)" "p.(Ile417=)" ""
"0000691237" "00009857" "70" "519" "1" "519" "1" "c.519+1G>A" "r.spl?" "p.?" ""
"0000691238" "00009857" "90" "2023" "0" "2023" "0" "c.2023del" "r.(?)" "p.(Ile675TyrfsTer23)" ""
"0000714010" "00009857" "90" "1188" "1" "1188" "1" "c.1188+1G>A" "r.spl" "p.?" ""
"0000714011" "00009857" "90" "2015" "0" "2019" "0" "c.2015_2019del" "r.(?)" "p.(Asp672Alafs*15)" ""
"0000714013" "00009857" "90" "1934" "0" "1934" "0" "c.1934T>G" "r.(?)" "p.(Leu645*)" ""
"0000714015" "00009857" "50" "1937" "0" "1937" "0" "c.1937T>G" "r.(?)" "-" ""
"0000714016" "00009857" "90" "1557" "3" "1557" "6" "c.1557+3_1557+6del" "r.1468_1557del" "p.Val490_Gln510del" "14i"
"0000723823" "00009857" "30" "1042" "-8" "1042" "-8" "c.1042-8T>G" "r.(=)" "p.(=)" ""
"0000723824" "00009857" "30" "1104" "0" "1104" "0" "c.1104G>A" "r.(?)" "p.(Lys368=)" ""
"0000805519" "00009857" "50" "65" "0" "65" "0" "c.65A>C" "r.(?)" "p.(Asn22Thr)" ""
"0000805520" "00009857" "30" "714" "0" "714" "0" "c.714A>C" "r.(?)" "p.(Gln238His)" ""
"0000805521" "00009857" "30" "963" "0" "963" "0" "c.963A>G" "r.(?)" "p.(Thr321=)" ""
"0000828476" "00009857" "70" "1969" "0" "1969" "0" "c.1969C>T" "r.(?)" "p.(Gln657*)" ""
"0000828815" "00009857" "70" "106" "0" "106" "0" "c.106C>G" "r.(?)" "p.(Gln36Glu)" ""
"0000829020" "00009857" "50" "714" "0" "714" "0" "c.714A>C" "r.(?)" "p.(Gln238His)" ""
"0000853254" "00009857" "30" "1188" "10" "1188" "10" "c.1188+10G>A" "r.(=)" "p.(=)" ""
"0000862795" "00009857" "30" "1275" "0" "1275" "0" "c.1275C>T" "r.(?)" "p.(Phe425=)" ""
"0000862796" "00009857" "30" "1617" "0" "1617" "0" "c.1617C>T" "r.(?)" "p.(Leu539=)" ""
"0000872813" "00009857" "90" "1213" "0" "1213" "0" "c.1213C>T" "r.(?)" "p.(Arg405*)" "12"
"0000872814" "00009857" "70" "1841" "0" "1841" "0" "c.1841T>C" "r.(?)" "p.(Leu614Pro)" "18"
"0000890259" "00009857" "30" "144" "23" "144" "23" "c.144+23del" "r.(=)" "p.(=)" ""
"0000896484" "00009857" "70" "106" "0" "106" "0" "c.106C>G" "r.(?)" "p.(Gln36Glu)" ""
"0000896485" "00009857" "50" "714" "0" "714" "0" "c.714A>C" "r.(?)" "p.(Gln238His)" ""
"0000913740" "00009857" "30" "1275" "0" "1275" "0" "c.1275C>T" "r.(?)" "p.(Phe425=)" ""
"0000949834" "00009857" "30" "401" "0" "401" "0" "c.401A>G" "r.(?)" "p.(Asp134Gly)" ""
"0000966683" "00009857" "50" "335" "0" "335" "0" "c.335T>C" "r.(?)" "p.(Leu112Pro)" ""
"0000966684" "00009857" "30" "781" "12" "781" "12" "c.781+12T>C" "r.(=)" "p.(=)" ""
"0000987167" "00009857" "90" "190" "0" "190" "0" "c.190C>T" "r.(?)" "p.(Arg64Ter)" ""
"0000999608" "00009857" "30" "1284" "0" "1284" "0" "c.1284G>T" "r.(?)" "p.(Leu428Phe)" ""
"0001026094" "00009857" "90" "1213" "0" "1213" "0" "c.1213C>T" "r.(?)" "p.(Arg405*)" ""
"0001038932" "00009857" "50" "1150" "0" "1150" "0" "c.1150C>T" "r.(?)" "p.(Arg384Cys)" ""
"0001038933" "00009857" "30" "1188" "4875" "1188" "4875" "c.1188+4875C>T" "r.(=)" "p.(=)" ""
"0001038934" "00009857" "50" "1954" "0" "1954" "0" "c.1954T>C" "r.(?)" "p.(Cys652Arg)" ""
"0001054485" "00009857" "50" "2015" "0" "2019" "0" "c.2015_2019del" "r.(?)" "p.(Asp672Alafs*15)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 13
"{{screeningid}}" "{{variantid}}"
"0000329656" "0000714010"
"0000329657" "0000714011"
"0000329658" "0000714013"
"0000329658" "0000714015"
"0000329658" "0000714016"
"0000396798" "0000828476"
"0000397069" "0000828815"
"0000397069" "0000829020"
"0000415071" "0000872813"
"0000415071" "0000872814"
"0000421725" "0000896484"
"0000421725" "0000896485"
"0000452822" "0000987167"