### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TOR1AIP1) # 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}}" "TOR1AIP1" "torsin A interacting protein 1" "1" "q24.2" "unknown" "NG_042316.1" "UD_136019646091" "" "https://www.LOVD.nl/TOR1AIP1" "" "1" "29456" "26092" "614512" "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/TOR1AIP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-05-05 14:17:23" "00006" "2025-10-16 13:01:11" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00024253" "TOR1AIP1" "transcript variant 1" "001" "NM_001267578.1" "" "NP_001254507.1" "" "" "" "-461" "3593" "1755" "179851177" "179889212" "00006" "2017-05-05 14:16:50" "" "" "00026020" "TOR1AIP1" "transcript variant 2" "002" "NM_015602.3" "" "NP_056417.2" "" "" "RefSeq select" "-461" "3590" "1752" "179851177" "179889212" "00006" "2025-10-16 11:02:00" "" "" ## 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" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05165" "CCTRCT" "cataract, congenital (CCTRCT)" "" "" "" "" "" "00006" "2016-05-15 20:37:47" "" "" "05265" "MRRSDC;LGMD2Y" "dystrophy, dystrophy, autosomal recessive, with rigid spine and distal joint contractures (LGMD2Y)" "AR" "617072" "" "" "" "00006" "2017-05-05 14:22:21" "00006" "2024-01-12 21:10:52" "05362" "LIS" "lissencephaly" "" "" "" "" "" "00006" "2017-12-29 12:16:43" "00006" "2023-11-27 09:41:55" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TOR1AIP1" "05265" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00103978" "" "" "" "1" "" "01296" "" "" "" "no" "" "" "0" "" "" "" "" "00103987" "" "" "" "3" "" "00006" "{PMID:Kayman-Kurekci 2014:24856141}, {DOI:Kayman-Kurekci 2014:10.1016/j.nmd.2014.04.007}" "4-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents/sibs" "F;M" "yes" "Turkey" "" "0" "" "" "" "24856141-Fam" "00103988" "" "" "" "1" "" "00006" "{PMID:Dorboz 2014:25425325}, {DOI:Dorboz 2014:10.1186/s13023-014-0174-9}" "5-generation family, 1 affected, unaffected heterozygous carrier parents/sibs" "M" "yes" "Morocco" "" "0" "" "" "" "25425325-FamPatV1" "00208776" "" "" "" "7" "" "00146" "" "" "" "" "Israel" "" "0" "" "" "Arab Muslim" "" "00265906" "" "" "" "1" "" "00006" "{PMID:Cummings 2017:28424332}" "" "" "" "" "" "0" "" "" "" "PatD4" "00289605" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289606" "" "" "" "49" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289607" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295550" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00304167" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00409362" "" "" "" "1" "" "00006" "{PMID:Hong 2022:35387801}" "" "M" "" "Korea" "" "0" "" "" "" "CDC_NM7.1" "00467539" "" "" "" "1" "" "04656" "{PMID:Khan 2024:39271758}, {DOI:Khan 2024:10.1038/s41598-024-71407-1}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Pakistan" "" "0" "" "" "" "SPK13" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00103978" "00198" "00103987" "05265" "00103988" "00198" "00208776" "05165" "00265906" "05121" "00289605" "00198" "00289606" "00198" "00289607" "00198" "00295550" "00198" "00304167" "00198" "00409362" "05126" "00467539" "05362" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05121, 05126, 05165, 05265, 05362 ## Count = 8 "{{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}}" "0000081921" "05265" "00103987" "00006" "Familial, autosomal recessive" "" "see paper; ..., proximal/distal weakness/atrophy, rigid spine, contractures proximal/distal interphalangeal hand joints, cardiomyopathy, respiratory involvement" "" "" "" "" "" "" "" "" "" "" "" "0000081922" "00198" "00103988" "00006" "Familial, autosomal recessive" "" "see paper; ..., rapidly progressing dystonia, progressive cerebellar atrophy, dilated cardiomyopathy" "03y" "" "" "" "" "" "" "" "" "" "" "0000081985" "00198" "00103978" "01296" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157390" "05165" "00208776" "00146" "Familial, autosomal recessive" "" "congenital cataract\r\ncongenital heart defects\r\nprofound infantile onset neurological impairment\r\ngrowth retardation\r\ncongenital hypotonia\r\ndeafness\r\nmicrocephaly\r\nfacial dysmorphism" "" "" "" "" "" "" "" "" "" "" "" "0000203683" "05121" "00265906" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000223115" "00198" "00295550" "01164" "Unknown" "" "Myofibrillar myopathy (HP:0003715)" "" "" "" "" "" "" "" "" "" "" "" "0000301483" "05126" "00409362" "00006" "Familial, autosomal recessive" "" "see paper; ..., (HP:0006466) Ankle contracture, (HP:0003546) Exercise intolerance, (HP:0008180) Mildy elevated creatine kinase, (HP:0030951) Skeletal muscle fibrosis, (HP:0009058) Increased muscle lipid content, (HP:0003557) Increased variability in muscle fiber diameter" "" "" "" "" "" "" "" "" "LGMD2Y" "limb-girdle muscular dystrophy" "" "0000352749" "05362" "00467539" "04656" "Familial, autosomal recessive" "" "severe hearing loss" "" "" "" "" "" "" "" "" "" "hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000104447" "00103978" "1" "01296" "01296" "2017-05-03 13:58:34" "" "" "SEQ-NG-I" "DNA" "whole blood" "" "0000104456" "00103987" "1" "00006" "00006" "2017-05-05 14:32:36" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000104458" "00103988" "1" "00006" "00006" "2017-05-05 14:41:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000209825" "00208776" "1" "00146" "00146" "2018-12-15 17:11:27" "" "" "SEQ-NG-I" "DNA;protein" "" "" "0000267026" "00265906" "1" "00006" "00006" "2019-10-11 12:24:56" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000290773" "00289605" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290774" "00289606" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290775" "00289607" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296720" "00295550" "1" "01164" "01164" "2020-03-18 10:47:42" "" "" "SEQ-NG-S" "DNA" "" "" "0000305296" "00304167" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000410630" "00409362" "1" "00006" "00006" "2022-05-06 20:34:04" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000469202" "00467539" "1" "04656" "00006" "2025-10-16 12:16:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000104447" "TOR1AIP1" "0000104456" "TOR1AIP1" "0000104458" "TOR1AIP1" "0000209825" "TOR1AIP1" "0000267026" "TOR1AIP1" "0000410630" "TOR1AIP1" ## 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 = 34 "{{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}}" "0000169190" "11" "90" "1" "179883167" "179883170" "del" "0" "01296" "TOR1AIP1_000002" "g.179883167_179883170del" "" "" "" "943_946del" "" "Germline" "yes" "" "0" "" "" "g.179914032_179914035del" "" "pathogenic" "" "0000169191" "21" "90" "1" "179886950" "179886950" "subst" "0" "01296" "TOR1AIP1_000001" "g.179886950G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.179917815G>C" "" "pathogenic" "" "0000169198" "3" "90" "1" "179851823" "179851823" "del" "0" "00006" "TOR1AIP1_000003" "g.179851823del" "" "{PMID:Kayman-Kurekci 2014:24856141}, {DOI:Kayman-Kurekci 2014:10.1016/j.nmd.2014.04.007}, {OMIM614512:0001}" "" "186delG" "genome-wide homozygosity mapping; not in 308 control chromosomes" "Germline" "yes" "rs879255612" "0" "" "" "g.179882688del" "" "pathogenic" "" "0000169199" "3" "70" "1" "179887067" "179887067" "subst" "0" "00006" "TOR1AIP1_000004" "g.179887067A>C" "" "{PMID:Dorboz 2014:25425325}, {DOI:Dorboz 2014:10.1186/s13023-014-0174-9}, {OMIM614512:0002}" "" "" "located in a 6.8-Mb homozygosity region; not in 200 control chromosomes; reduced expression of LAP1 and mislocalization and aggregation in endoplasmic reticulum" "Germline" "yes" "rs886037845" "0" "" "" "g.179917932A>C" "" "likely pathogenic" "" "0000245471" "0" "10" "1" "179877780" "179877780" "subst" "0.0561297" "02330" "TOR1AIP1_000011" "g.179877780A>C" "" "" "" "TOR1AIP1(NM_001267578.2):c.882A>C (p.Q294H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179908645A>C" "" "benign" "" "0000245502" "0" "10" "1" "179883206" "179883206" "subst" "0.0562163" "02330" "TOR1AIP1_000013" "g.179883206A>G" "" "" "" "TOR1AIP1(NM_001267578.2):c.967+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179914071A>G" "" "benign" "" "0000309378" "0" "10" "1" "179887125" "179887125" "subst" "0.950059" "02330" "TOR1AIP1_000014" "g.179887125G>A" "" "" "" "TOR1AIP1(NM_001267578.2):c.1506G>A (p.A502=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179917990G>A" "" "benign" "" "0000309379" "0" "10" "1" "179852074" "179852074" "subst" "0.648754" "02330" "TOR1AIP1_000006" "g.179852074T>C" "" "" "" "TOR1AIP1(NM_001267578.2):c.437T>C (p.M146T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179882939T>C" "" "benign" "" "0000309380" "0" "10" "1" "179858444" "179858444" "subst" "0.650857" "02330" "TOR1AIP1_000007" "g.179858444G>A" "" "" "" "TOR1AIP1(NM_001267578.2):c.554-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179889309G>A" "" "benign" "" "0000309381" "0" "10" "1" "179858470" "179858470" "subst" "0.000410633" "02330" "TOR1AIP1_000008" "g.179858470G>A" "" "" "" "TOR1AIP1(NM_001267578.2):c.579G>A (p.R193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179889335G>A" "" "benign" "" "0000309382" "0" "30" "1" "179851707" "179851707" "subst" "0.00220658" "02330" "TOR1AIP1_000005" "g.179851707C>G" "" "" "" "TOR1AIP1(NM_001267578.1):c.70C>G (p.(Pro24Ala), p.P24A), TOR1AIP1(NM_001267578.2):c.70C>G (p.P24A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179882572C>G" "" "likely benign" "" "0000309383" "0" "10" "1" "179876988" "179876988" "subst" "0.631111" "02330" "TOR1AIP1_000009" "g.179876988C>G" "" "" "" "TOR1AIP1(NM_001267578.2):c.830C>G (p.P277R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179907853C>G" "" "benign" "" "0000309384" "0" "30" "1" "179877015" "179877015" "subst" "0" "02330" "TOR1AIP1_000010" "g.179877015T>G" "" "" "" "TOR1AIP1(NM_001267578.2):c.841+16T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179907880T>G" "" "likely benign" "" "0000309385" "0" "30" "1" "179883134" "179883134" "subst" "0.00225181" "02330" "TOR1AIP1_000012" "g.179883134T>C" "" "" "" "TOR1AIP1(NM_001267578.1):c.912T>C (p.(=)), TOR1AIP1(NM_001267578.2):c.912T>C (p.N304=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179913999T>C" "" "likely benign" "" "0000321155" "0" "50" "1" "179883134" "179883134" "subst" "0.00225181" "01804" "TOR1AIP1_000012" "g.179883134T>C" "" "" "" "TOR1AIP1(NM_001267578.1):c.912T>C (p.(=)), TOR1AIP1(NM_001267578.2):c.912T>C (p.N304=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179913999T>C" "" "VUS" "" "0000440045" "3" "90" "1" "179883186" "179883186" "subst" "0" "00146" "TOR1AIP1_000015" "g.179883186C>T" "" "" "" "961C>T (Arg321*)" "" "Germline" "yes" "" "0" "" "" "g.179914051C>T" "" "pathogenic (recessive)" "" "0000504355" "0" "30" "1" "179877011" "179877011" "subst" "0" "02330" "TOR1AIP1_000016" "g.179877011G>A" "" "" "" "TOR1AIP1(NM_001267578.2):c.841+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179907876G>A" "" "likely benign" "" "0000597875" "1" "90" "1" "179886803" "179886803" "subst" "1.21895E-5" "00006" "TOR1AIP1_000018" "g.179886803T>C" "" "{PMID:Cummings 2017:28424332}" "" "" "RNA allele imbalance" "Germline" "" "" "0" "" "" "g.179917668T>C" "" "pathogenic (recessive)" "" "0000597883" "2" "90" "1" "179851765" "179851765" "del" "0" "00006" "TOR1AIP1_000017" "g.179851765del" "" "{PMID:Cummings 2017:28424332}" "" "179851763GC>G" "RNA allele imbalance" "Germline" "" "" "0" "" "" "g.179882630del" "" "pathogenic (recessive)" "" "0000605007" "0" "50" "1" "179851781" "179851783" "del" "0" "02327" "TOR1AIP2_000002" "g.179851781_179851783del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179882646_179882648del" "" "VUS" "" "0000605008" "0" "50" "1" "179887049" "179887049" "subst" "2.84384E-5" "02327" "TOR1AIP1_000019" "g.179887049C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179917914C>T" "" "VUS" "" "0000605009" "0" "30" "1" "179887236" "179887236" "subst" "4.89612E-5" "02327" "TOR1AIP1_000020" "g.179887236C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179918101C>A" "" "likely benign" "" "0000647462" "1" "10" "1" "179851707" "179851707" "subst" "0.00220658" "03575" "TOR1AIP1_000005" "g.179851707C>G" "3/2783 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs146976883}" "Germline" "" "rs146976883" "0" "" "" "g.179882572C>G" "" "benign" "" "0000647463" "1" "10" "1" "179883190" "179883190" "subst" "0.00544051" "03575" "TOR1AIP1_000021" "g.179883190G>A" "49/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "49 heterozygous; {DB:CLININrs2274955}" "Germline" "" "rs2274955" "0" "" "" "g.179914055G>A" "" "benign" "" "0000647464" "1" "30" "1" "179886769" "179886769" "subst" "0.00165369" "03575" "TOR1AIP1_000022" "g.179886769G>A" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs149690630}" "Germline" "" "rs149690630" "0" "" "" "g.179917634G>A" "" "likely benign" "" "0000653418" "0" "50" "1" "179887372" "179887372" "subst" "0" "01164" "TOR1AIP1_000023" "g.179887372T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.179918237T>C" "" "VUS" "ACMG" "0000668984" "3" "10" "1" "179883190" "179883190" "subst" "0.00544051" "03575" "TOR1AIP1_000021" "g.179883190G>A" "1/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs2274955}" "Germline" "" "rs2274955" "0" "" "" "g.179914055G>A" "" "benign" "" "0000675548" "0" "30" "1" "179886769" "179886769" "subst" "0.00165369" "02326" "TOR1AIP1_000022" "g.179886769G>A" "" "" "" "TOR1AIP1(NM_001267578.1):c.1150G>A (p.D384N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000847990" "3" "70" "1" "179883190" "179883190" "subst" "0.00544051" "00006" "TOR1AIP1_000021" "g.179883190G>A" "" "{PMID:Hong 2022:35387801}" "" "" "0.068 frequency in East Asians (gnomAD)" "Germline" "" "" "0" "" "" "g.179914055G>A" "" "VUS (!)" "" "0000848406" "0" "30" "1" "179851707" "179851707" "subst" "0.00220658" "02326" "TOR1AIP1_000005" "g.179851707C>G" "" "" "" "TOR1AIP1(NM_001267578.1):c.70C>G (p.(Pro24Ala), p.P24A), TOR1AIP1(NM_001267578.2):c.70C>G (p.P24A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882959" "0" "30" "1" "179851707" "179851707" "subst" "0.00220658" "01804" "TOR1AIP1_000005" "g.179851707C>G" "" "" "" "TOR1AIP1(NM_001267578.1):c.70C>G (p.(Pro24Ala), p.P24A), TOR1AIP1(NM_001267578.2):c.70C>G (p.P24A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031509" "0" "50" "1" "179858480" "179858480" "subst" "1.21955E-5" "01804" "TOR1AIP1_000024" "g.179858480C>T" "" "" "" "TOR1AIP1(NM_015602.4):c.586C>T (p.(Pro196Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031510" "0" "10" "1" "179883190" "179883190" "subst" "0.00544051" "01804" "TOR1AIP1_000021" "g.179883190G>A" "" "" "" "TOR1AIP1(NM_015602.4):c.964+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001049398" "3" "70" "1" "179870457" "179870457" "dup" "0" "04656" "TOR1AIP1_000025" "g.179870457dup" "" "{PMID:Khan 2024:39271758}, {DOI:Khan 2024:10.1038/s41598-024-71407-1}" "" "673dupC" "ACMG PVS1, PM2," "Germline" "" "" "0" "" "" "g.179901322dup" "" "likely pathogenic (recessive)" "" ## 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 TOR1AIP1 ## Count = 38 "{{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}}" "0000169190" "00024253" "90" "945" "0" "948" "0" "c.945_948del" "r.(?)" "p.(Gln315Hisfs*9)" "9" "0000169191" "00024253" "90" "1331" "0" "1331" "0" "c.1331G>C" "r.(?)" "p.(Arg444Pro)" "10" "0000169198" "00024253" "90" "186" "0" "186" "0" "c.186del" "r.(?)" "p.(Glu62Aspfs*26)" "1" "0000169199" "00024253" "70" "1448" "0" "1448" "0" "c.1448A>C" "r.(?)" "p.(Glu483Ala)" "10" "0000245471" "00024253" "10" "882" "0" "882" "0" "c.882A>C" "r.(?)" "p.(Gln294His)" "" "0000245502" "00024253" "10" "967" "17" "967" "17" "c.967+17A>G" "r.(=)" "p.(=)" "" "0000309378" "00024253" "10" "1506" "0" "1506" "0" "c.1506G>A" "r.(?)" "p.(Ala502=)" "" "0000309379" "00024253" "10" "437" "0" "437" "0" "c.437T>C" "r.(?)" "p.(Met146Thr)" "" "0000309380" "00024253" "10" "554" "-1" "554" "-1" "c.554-1G>A" "r.spl?" "p.?" "" "0000309381" "00024253" "10" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(Arg193=)" "" "0000309382" "00024253" "30" "70" "0" "70" "0" "c.70C>G" "r.(?)" "p.(Pro24Ala)" "" "0000309383" "00024253" "10" "830" "0" "830" "0" "c.830C>G" "r.(?)" "p.(Pro277Arg)" "" "0000309384" "00024253" "30" "841" "16" "841" "16" "c.841+16T>G" "r.(=)" "p.(=)" "" "0000309385" "00024253" "30" "912" "0" "912" "0" "c.912T>C" "r.(?)" "p.(Asn304=)" "" "0000321155" "00024253" "50" "912" "0" "912" "0" "c.912T>C" "r.(?)" "p.(Asn304=)" "" "0000440045" "00024253" "90" "964" "0" "964" "0" "c.964C>T" "r.(?)" "p.(Arg322*)" "9" "0000504355" "00024253" "30" "841" "12" "841" "12" "c.841+12G>A" "r.(=)" "p.(=)" "" "0000597875" "00024253" "90" "1184" "0" "1184" "0" "c.1184T>C" "r.(?)" "p.(Leu395Pro)" "" "0000597883" "00024253" "90" "128" "0" "128" "0" "c.128del" "r.(?)" "p.(Pro43Leufs*15)" "" "0000605007" "00024253" "50" "144" "0" "146" "0" "c.144_146del" "r.(?)" "p.(Pro49del)" "" "0000605008" "00024253" "50" "1430" "0" "1430" "0" "c.1430C>T" "r.(?)" "p.(Ala477Val)" "" "0000605009" "00024253" "30" "1617" "0" "1617" "0" "c.1617C>A" "r.(?)" "p.(Val539=)" "" "0000647462" "00026020" "10" "70" "0" "70" "0" "c.70C>G" "r.(?)" "p.(Pro24Ala)" "" "0000647462" "00024253" "10" "70" "0" "70" "0" "c.70C>G" "r.(?)" "p.(Pro24Ala)" "" "0000647463" "00026020" "10" "964" "1" "964" "1" "c.964+1G>A" "r.spl?" "p.?" "" "0000647463" "00024253" "10" "967" "1" "967" "1" "c.967+1G>A" "r.spl?" "p.?" "" "0000647464" "00026020" "30" "1147" "0" "1147" "0" "c.1147G>A" "r.(?)" "p.(Asp383Asn)" "" "0000647464" "00024253" "30" "1150" "0" "1150" "0" "c.1150G>A" "r.(?)" "p.(Asp384Asn)" "" "0000653418" "00024253" "50" "1753" "0" "1753" "0" "c.1753T>C" "r.(?)" "p.(Ter585Glnext*?)" "" "0000668984" "00026020" "10" "964" "1" "964" "1" "c.964+1G>A" "r.spl?" "p.?" "" "0000668984" "00024253" "10" "967" "1" "967" "1" "c.967+1G>A" "r.spl?" "p.?" "" "0000675548" "00024253" "30" "1150" "0" "1150" "0" "c.1150G>A" "r.(?)" "p.(Asp384Asn)" "" "0000847990" "00024253" "70" "967" "1" "967" "1" "c.967+1G>A" "r.911_967del" "p.Asn304_Gln323delinsLys" "" "0000848406" "00024253" "30" "70" "0" "70" "0" "c.70C>G" "r.(?)" "p.(Pro24Ala)" "" "0000882959" "00024253" "30" "70" "0" "70" "0" "c.70C>G" "r.(?)" "p.(Pro24Ala)" "" "0001031509" "00024253" "50" "589" "0" "589" "0" "c.589C>T" "r.(?)" "p.(Pro197Ser)" "" "0001031510" "00024253" "10" "967" "1" "967" "1" "c.967+1G>A" "r.spl?" "p.?" "" "0001049398" "00026020" "70" "673" "0" "673" "0" "c.673dup" "r.(?)" "p.(Gln225ProfsTer12)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000104447" "0000169190" "0000104447" "0000169191" "0000104456" "0000169198" "0000104458" "0000169199" "0000209825" "0000440045" "0000267026" "0000597875" "0000267026" "0000597883" "0000290773" "0000647462" "0000290774" "0000647463" "0000290775" "0000647464" "0000296720" "0000653418" "0000305296" "0000668984" "0000410630" "0000847990" "0000469202" "0001049398"