### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = UNC45A) # 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}}" "UNC45A" "unc-45 homolog A (C. elegans)" "15" "q26.1" "unknown" "NC_000015.9" "UD_132378470138" "" "https://www.LOVD.nl/UNC45A" "" "1" "30594" "55898" "611219" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/UNC45A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-03-24 09:05:47" "00000" "2026-01-20 18:57:21" ## 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}}" "00025526" "UNC45A" "transcript variant 2" "003" "NM_018671.3" "" "NP_061141.2" "" "" "" "-340" "3212" "2835" "91478215" "91497323" "00006" "2020-06-12 13:38:05" "" "" ## 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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00155720" "" "" "" "1" "" "00006" "{PMID:Esteve 2018:29429573}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "European" "29429573-FamA" "00155721" "" "" "" "2" "" "00006" "{PMID:Esteve 2018:29429573}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "no" "Tunisia" "" "0" "" "" "" "29429573-FamB" "00155722" "" "" "" "1" "" "00006" "{PMID:Esteve 2018:29429573}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Turkey" "" "0" "" "" "" "29429573-FamC" "00303426" "" "" "" "1" "" "00006" "Duclaux-Loras ESHG2020 C14.3" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "" "" "0" "" "" "" "Fam1" "00303427" "" "" "" "1" "" "00006" "Duclaux-Loras ESHG2020 C14.3" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam2" "00303428" "" "" "" "1" "" "00006" "Duclaux-Loras ESHG2020 C14.3" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam3" "00303429" "" "" "" "1" "" "00006" "Duclaux-Loras ESHG2020 C14.3" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "" "" "0" "" "" "" "Fam4" "00467708" "" "" "" "2" "" "00006" "{PMID:Thouqan 2025:40129845}" "2-generation family, 1 affected, unaffected heterozygous carrier parent" "M" "yes" "Palestine" "" "0" "" "" "" "patient" "00467709" "" "" "00467708" "1" "" "00006" "{PMID:Thouqan 2025:40129845}" "unaffected sister (3y)" "F" "" "Palestine" "" "0" "" "" "" "relative" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00155720" "00198" "00155721" "00198" "00155722" "00198" "00303426" "00198" "00303427" "00198" "00303428" "00198" "00303429" "00198" "00467708" "00139" "00467709" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198 ## 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}}" "0000128102" "00198" "00155720" "00006" "Familial, autosomal recessive" "05y" "language delay partially linked to severe bilateral perception deafness, no sign of bone fragility, no liver disease." "00y00m04d" "" "intractable diarrhea" "" "" "" "" "" "" "diarrhea" "" "0000128103" "00198" "00155721" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "icteric cholestasis" "" "0000128104" "00198" "00155722" "00006" "Familial, autosomal recessive" "05y" "bone fragility (2 spontaneous fractures) with normal calcium phosphate,\r\nPTH, D vitamin levels; 2m-diarrhea requiring parenteral nutrition; recurrent\r\nepisodes of cytolysis" "00y00m15d" "" "cholestatic icterus" "" "" "" "" "" "" "cholestatic icterus" "" "0000230506" "00198" "00303426" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital diarrhea" "" "0000230507" "00198" "00303427" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital diarrhea" "" "0000230508" "00198" "00303428" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital diarrhea" "" "0000230509" "00198" "00303429" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital diarrhea" "" "0000352874" "00139" "00467708" "00006" "Unknown" "00y11m" "see paper; ..., developmental delay, intellectual disability, characteristic facial dysmorphisms, triangular face, deep-set eyes, prominent forehead, no narrow/short palpebral fissure, deep-seated eyes, sparse eyebrows, malar hypoplasia, no strabismus, no hypertelorism, no prominent nose, broad nose, no short philtrum, low-set ears, full lips, no wide mouth" "" "" "" "" "" "" "" "" "" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000156584" "00155720" "1" "00006" "00006" "2018-03-24 14:57:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000156585" "00155721" "1" "00006" "00006" "2018-03-24 15:00:04" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000156586" "00155722" "1" "00006" "00006" "2018-03-24 15:02:49" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000304555" "00303426" "1" "00006" "00006" "2020-06-12 13:33:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304556" "00303427" "1" "00006" "00006" "2020-06-12 13:33:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304557" "00303428" "1" "00006" "00006" "2020-06-12 13:33:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304558" "00303429" "1" "00006" "00006" "2020-06-12 13:33:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469374" "00467708" "1" "00006" "00006" "2025-10-27 17:06:06" "" "" "SEQ-NG" "DNA" "" "WES" "0000469375" "00467709" "1" "00006" "00006" "2025-10-27 17:13:53" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000156584" "UNC45A" "0000156585" "UNC45A" "0000156586" "UNC45A" "0000304555" "UNC45A" "0000304556" "UNC45A" "0000304557" "UNC45A" "0000304558" "UNC45A" "0000469375" "UNC45A" ## 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 = 47 "{{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}}" "0000359618" "11" "90" "15" "91479556" "91479556" "subst" "1.21964E-5" "00006" "UNC45A_000001" "g.91479556C>T" "" "{PMID:Esteve 2018:29429573}" "" "NM_001039675.1:c.247C>T" "" "Germline" "" "" "0" "" "" "g.90936326C>T" "" "pathogenic (recessive)" "" "0000359619" "21" "90" "15" "91488122" "91488122" "subst" "0" "00006" "UNC45A_000002" "g.91488122G>T" "" "{PMID:Esteve 2018:29429573}" "" "NM_001039675.1:c.983G>T" "" "Germline" "" "" "0" "" "" "g.90944892G>T" "" "pathogenic (recessive)" "" "0000359620" "11" "90" "15" "91496789" "91496789" "subst" "2.43663E-5" "00006" "UNC45A_000003" "g.91496789C>T" "" "{PMID:Esteve 2018:29429573}" "" "NM_001039675.1:c.2633C>T" "" "Germline" "yes" "" "0" "" "" "g.90953559C>T" "" "pathogenic (recessive)" "" "0000359621" "11" "90" "15" "91496890" "91496890" "subst" "0" "00006" "UNC45A_000004" "g.91496890T>G" "" "{PMID:Esteve 2018:29429573}" "" "NM_001039675.1:c.2734T>G" "" "Germline" "yes" "" "0" "" "" "g.90953660T>G" "" "pathogenic (recessive)" "" "0000359622" "21" "90" "15" "91496737" "91496737" "subst" "0" "00006" "UNC45A_000005" "g.91496737C>T" "" "{PMID:Esteve 2018:29429573}" "" "NM_001039675.1:c.2581C>T" "" "Germline" "yes" "" "0" "" "" "g.90953507C>T" "" "pathogenic (recessive)" "" "0000359623" "21" "90" "15" "91485808" "91485808" "subst" "4.06078E-6" "00006" "UNC45A_000006" "g.91485808C>T" "" "{PMID:Esteve 2018:29429573}" "" "NM_001039675.1:c.784C>T" "" "Germline" "" "" "0" "" "" "g.90942578C>T" "" "pathogenic (recessive)" "" "0000359624" "11" "90" "15" "91489957" "91489957" "subst" "0" "00006" "UNC45A_000007" "g.91489957T>A" "" "{PMID:Esteve 2018:29429573}" "" "NM_001039675.1:c.1268T>A" "" "Germline" "" "" "0" "" "" "g.90946727T>A" "" "pathogenic (recessive)" "" "0000556254" "0" "30" "15" "91488179" "91488179" "subst" "0" "01804" "HDDC3_000001" "g.91488179C>T" "" "" "" "UNC45A(NM_018671.3):c.1085C>T (p.(Ala362Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90944949C>T" "" "likely benign" "" "0000556255" "0" "50" "15" "91492895" "91492895" "subst" "0" "01804" "HDDC3_000002" "g.91492895C>T" "" "" "" "UNC45A(NM_018671.3):c.2018C>T (p.(Ala673Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90949665C>T" "" "VUS" "" "0000668021" "3" "70" "15" "91485689" "91485689" "subst" "4.07123E-6" "00006" "UNC45A_000008" "g.91485689T>C" "" "Duclaux-Loras ESHG2020 C14.3" "" "" "" "Germline" "" "" "0" "" "" "g.90942459T>C" "" "pathogenic (recessive)" "" "0000668022" "11" "70" "15" "91493492" "91493492" "subst" "6.7034E-6" "00006" "UNC45A_000009" "g.91493492G>A" "" "Duclaux-Loras ESHG2020 C14.3" "" "" "" "Germline" "" "" "0" "" "" "g.90950262G>A" "" "pathogenic (recessive)" "" "0000668023" "11" "70" "15" "91490095" "91490096" "ins" "0" "00006" "UNC45A_000011" "g.91490095_91490096insG" "" "Duclaux-Loras ESHG2020 C14.3" "" "1452delinsGC" "" "Germline" "" "" "0" "" "" "g.90946865_90946866insG" "" "pathogenic (recessive)" "" "0000668024" "3" "70" "15" "91485668" "91485668" "subst" "0" "00006" "UNC45A_000013" "g.91485668C>G" "" "Duclaux-Loras ESHG2020 C14.3" "" "" "" "Germline" "" "" "0" "" "" "g.90942438C>G" "" "pathogenic (recessive)" "" "0000668026" "21" "99" "15" "91485700" "91485700" "subst" "2.03379E-5" "00006" "UNC45A_000010" "g.91485700C>T" "" "Duclaux-Loras ESHG2020 C14.3" "" "" "" "Germline" "" "" "0" "" "" "g.90942470C>T" "" "pathogenic (recessive)" "" "0000668027" "21" "90" "15" "91496475" "91496475" "subst" "0" "00006" "UNC45A_000012" "g.91496475G>C" "" "Duclaux-Loras ESHG2020 C14.3" "" "" "" "Germline" "" "" "0" "" "" "g.90953245G>C" "" "pathogenic (recessive)" "" "0000725388" "0" "50" "15" "91496753" "91496753" "subst" "7.31089E-5" "01943" "HDDC3_000003" "g.91496753G>A" "" "" "" "UNC45A(NM_001039675.1):c.2597G>A (p.R866Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854252" "0" "50" "15" "91491410" "91491410" "subst" "7.71875E-5" "01943" "HDDC3_000004" "g.91491410G>A" "" "" "" "UNC45A(NM_001039675.1):c.1589G>A (p.R530H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892441" "0" "70" "15" "91479556" "91479556" "subst" "1.21964E-5" "02325" "UNC45A_000001" "g.91479556C>T" "" "" "" "UNC45A(NM_018671.5):c.292C>T (p.R98W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000892442" "0" "90" "15" "91483608" "91483608" "subst" "4.06085E-6" "02325" "HDDC3_000005" "g.91483608C>T" "" "" "" "UNC45A(NM_018671.5):c.592C>T (p.Q198*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892443" "0" "50" "15" "91493412" "91493412" "subst" "4.68691E-5" "02325" "HDDC3_000006" "g.91493412C>T" "" "" "" "UNC45A(NM_018671.5):c.2102C>T (p.(Thr701Met), p.T701M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950490" "0" "50" "15" "91489992" "91489992" "subst" "0" "01804" "HDDC3_000007" "g.91489992C>T" "" "" "" "UNC45A(NM_001039675.1):c.1303C>T (p.(Gln435*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950491" "0" "30" "15" "91496736" "91496736" "subst" "1.21857E-5" "01804" "HDDC3_000008" "g.91496736C>G" "" "" "" "UNC45A(NM_001039675.1):c.2580C>G (p.(Asn860Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981528" "0" "50" "15" "91479662" "91479662" "subst" "0.000203123" "01804" "HDDC3_000009" "g.91479662G>A" "" "" "" "UNC45A(NM_018671.5):c.398G>A (p.(Arg133Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981529" "0" "50" "15" "91485790" "91485790" "subst" "8.12123E-5" "01804" "HDDC3_000010" "g.91485790G>T" "" "" "" "UNC45A(NM_018671.5):c.811G>T (p.(Gly271Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981530" "0" "50" "15" "91486315" "91486315" "subst" "8.61438E-6" "01804" "HDDC3_000011" "g.91486315A>G" "" "" "" "UNC45A(NM_018671.5):c.1027+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981531" "0" "50" "15" "91488116" "91488116" "subst" "0.000105985" "01804" "HDDC3_000012" "g.91488116T>G" "" "" "" "UNC45A(NM_018671.5):c.1028-6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981532" "0" "50" "15" "91491116" "91491116" "subst" "0" "01804" "HDDC3_000013" "g.91491116C>G" "" "" "" "UNC45A(NM_018671.5):c.1591C>G (p.(Arg531Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981533" "0" "30" "15" "91491934" "91491934" "subst" "0.00156423" "01804" "HDDC3_000014" "g.91491934C>T" "" "" "" "UNC45A(NM_018671.5):c.1788C>T (p.(Cys596=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981534" "0" "50" "15" "91492561" "91492561" "subst" "8.20358E-6" "01804" "HDDC3_000015" "g.91492561G>A" "" "" "" "UNC45A(NM_018671.5):c.1894G>A (p.(Val632Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001807" "0" "50" "15" "91490076" "91490076" "subst" "0.000199281" "01804" "HDDC3_000016" "g.91490076G>T" "" "" "" "UNC45A(NM_018671.3):c.1432G>T (p.(Gly478Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001808" "0" "30" "15" "91496515" "91496515" "subst" "6.57203E-5" "01804" "HDDC3_000017" "g.91496515C>T" "" "" "" "UNC45A(NM_018671.3):c.2552C>T (p.(Thr851Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001011770" "0" "30" "15" "91488186" "91488186" "subst" "0" "03779" "UNC45A_000014" "g.91488186C>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0001040696" "0" "50" "15" "91479518" "91479518" "subst" "0" "01804" "HDDC3_000018" "g.91479518T>C" "" "" "" "UNC45A(NM_018671.5):c.254T>C (p.(Ile85Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040697" "0" "30" "15" "91483059" "91483059" "subst" "8.13988E-6" "01804" "HDDC3_000019" "g.91483059G>A" "" "" "" "UNC45A(NM_018671.5):c.519+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040698" "0" "50" "15" "91486259" "91486259" "subst" "1.62446E-5" "01804" "HDDC3_000020" "g.91486259G>A" "" "" "" "UNC45A(NM_018671.5):c.974G>A (p.(Arg325Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040699" "0" "50" "15" "91490076" "91490076" "subst" "0.000162678" "01804" "HDDC3_000021" "g.91490076G>C" "" "" "" "UNC45A(NM_018671.5):c.1432G>C (p.(Gly478Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040700" "0" "50" "15" "91491920" "91491920" "subst" "0" "01804" "HDDC3_000022" "g.91491920G>C" "" "" "" "UNC45A(NM_018671.5):c.1774G>C (p.(Ala592Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040701" "0" "50" "15" "91493412" "91493412" "subst" "4.68691E-5" "01804" "HDDC3_000006" "g.91493412C>T" "" "" "" "UNC45A(NM_018671.5):c.2102C>T (p.(Thr701Met), p.T701M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040702" "0" "50" "15" "91496230" "91496230" "subst" "8.14306E-6" "01804" "HDDC3_000023" "g.91496230G>A" "" "" "" "UNC45A(NM_018671.5):c.2375G>A (p.(Arg792His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049655" "11" "70" "15" "91479587" "91479587" "subst" "0" "00006" "UNC45A_000015" "g.91479587T>C" "" "{PMID:Thouqan 2025:40129845}" "" "" "" "Germline" "" "" "0" "" "" "g.90936357T>C" "" "VUS" "" "0001049656" "21" "70" "15" "91490053" "91490053" "subst" "8.1248E-6" "00006" "UNC45A_000016" "g.91490053G>A" "" "{PMID:Thouqan 2025:40129845}" "" "" "" "Germline" "" "" "0" "" "" "g.90946823G>A" "" "VUS" "" "0001049658" "11" "70" "15" "91479587" "91479587" "subst" "0" "00006" "UNC45A_000015" "g.91479587T>C" "" "{PMID:Thouqan 2025:40129845}" "" "" "" "Germline" "no" "" "0" "" "" "g.90936357T>C" "" "VUS" "" "0001049659" "21" "70" "15" "91490053" "91490053" "subst" "8.1248E-6" "00006" "UNC45A_000016" "g.91490053G>A" "" "{PMID:Thouqan 2025:40129845}" "" "" "" "Germline" "no" "" "0" "" "" "g.90946823G>A" "" "VUS" "" "0001055260" "0" "50" "15" "91483531" "91483531" "subst" "0" "01804" "HDDC3_000024" "g.91483531C>A" "" "" "" "UNC45A(NM_018671.5):c.520-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055261" "0" "50" "15" "91489894" "91489894" "subst" "0.00010208" "01804" "HDDC3_000025" "g.91489894C>T" "" "" "" "UNC45A(NM_018671.5):c.1250C>T (p.(Thr417Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055262" "0" "50" "15" "91489935" "91489935" "subst" "0.000187129" "01804" "HDDC3_000026" "g.91489935C>T" "" "" "" "UNC45A(NM_018671.5):c.1291C>T (p.(Arg431Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066304" "0" "30" "15" "91493381" "91493381" "subst" "0" "01804" "HDDC3_000027" "g.91493381C>T" "" "" "" "UNC45A(NM_018671.5):c.2074-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 UNC45A ## Count = 47 "{{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}}" "0000359618" "00025526" "90" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Trp)" "" "0000359619" "00025526" "90" "1028" "0" "1028" "0" "c.1028G>T" "r.(?)" "p.(Gly343Val)" "" "0000359620" "00025526" "90" "2678" "0" "2678" "0" "c.2678C>T" "r.(?)" "p.(Ser893Leu)" "" "0000359621" "00025526" "90" "2779" "0" "2779" "0" "c.2779T>G" "r.(?)" "p.(Cys927Gly)" "" "0000359622" "00025526" "90" "2626" "0" "2626" "0" "c.2626C>T" "r.(?)" "p.(Gln876*)" "" "0000359623" "00025526" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277*)" "" "0000359624" "00025526" "90" "1313" "0" "1313" "0" "c.1313T>A" "r.(?)" "p.(Val438Asp)" "" "0000556254" "00025526" "30" "1085" "0" "1085" "0" "c.1085C>T" "r.(?)" "p.(Ala362Val)" "" "0000556255" "00025526" "50" "2018" "0" "2018" "0" "c.2018C>T" "r.(?)" "p.(Ala673Val)" "" "0000668021" "00025526" "90" "710" "0" "710" "0" "c.710T>C" "r.(?)" "p.(Leu237Pro)" "" "0000668022" "00025526" "90" "2182" "0" "2182" "0" "c.2182G>A" "r.(?)" "p.(Glu728Lys)" "" "0000668023" "00025526" "90" "1451" "0" "1452" "0" "c.1451_1452insG" "r.(?)" "p.(Asp484Glufs*4)" "" "0000668024" "00025526" "90" "689" "0" "689" "0" "c.689C>G" "r.(?)" "p.(Thr230Arg)" "" "0000668026" "00025526" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241*)" "" "0000668027" "00025526" "90" "2512" "0" "2512" "0" "c.2512G>C" "r.(?)" "p.(Ala838Pro)" "" "0000725388" "00025526" "50" "2642" "0" "2642" "0" "c.2642G>A" "r.(?)" "p.(Arg881Gln)" "" "0000854252" "00025526" "50" "1634" "0" "1634" "0" "c.1634G>A" "r.(?)" "p.(Arg545His)" "" "0000892441" "00025526" "70" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Trp)" "" "0000892442" "00025526" "90" "592" "0" "592" "0" "c.592C>T" "r.(?)" "p.(Gln198*)" "" "0000892443" "00025526" "50" "2102" "0" "2102" "0" "c.2102C>T" "r.(?)" "p.(Thr701Met)" "" "0000950490" "00025526" "50" "1348" "0" "1348" "0" "c.1348C>T" "r.(?)" "p.(Gln450*)" "" "0000950491" "00025526" "30" "2625" "0" "2625" "0" "c.2625C>G" "r.(?)" "p.(Asn875Lys)" "" "0000981528" "00025526" "50" "398" "0" "398" "0" "c.398G>A" "r.(?)" "p.(Arg133Gln)" "" "0000981529" "00025526" "50" "811" "0" "811" "0" "c.811G>T" "r.(?)" "p.(Gly271Cys)" "" "0000981530" "00025526" "50" "1027" "3" "1027" "3" "c.1027+3A>G" "r.spl?" "p.?" "" "0000981531" "00025526" "50" "1028" "-6" "1028" "-6" "c.1028-6T>G" "r.(=)" "p.(=)" "" "0000981532" "00025526" "50" "1591" "0" "1591" "0" "c.1591C>G" "r.(?)" "p.(Arg531Gly)" "" "0000981533" "00025526" "30" "1788" "0" "1788" "0" "c.1788C>T" "r.(?)" "p.(=)" "" "0000981534" "00025526" "50" "1894" "0" "1894" "0" "c.1894G>A" "r.(?)" "p.(Val632Met)" "" "0001001807" "00025526" "50" "1432" "0" "1432" "0" "c.1432G>T" "r.(?)" "p.(Gly478Cys)" "" "0001001808" "00025526" "30" "2552" "0" "2552" "0" "c.2552C>T" "r.(?)" "p.(Thr851Met)" "" "0001011770" "00025526" "30" "1092" "0" "1092" "0" "c.1092C>G" "r.(?)" "p.(Thr364=)" "" "0001040696" "00025526" "50" "254" "0" "254" "0" "c.254T>C" "r.(?)" "p.(Ile85Thr)" "" "0001040697" "00025526" "30" "519" "6" "519" "6" "c.519+6G>A" "r.(=)" "p.(=)" "" "0001040698" "00025526" "50" "974" "0" "974" "0" "c.974G>A" "r.(?)" "p.(Arg325Gln)" "" "0001040699" "00025526" "50" "1432" "0" "1432" "0" "c.1432G>C" "r.(?)" "p.(Gly478Arg)" "" "0001040700" "00025526" "50" "1774" "0" "1774" "0" "c.1774G>C" "r.(?)" "p.(Ala592Pro)" "" "0001040701" "00025526" "50" "2102" "0" "2102" "0" "c.2102C>T" "r.(?)" "p.(Thr701Met)" "" "0001040702" "00025526" "50" "2375" "0" "2375" "0" "c.2375G>A" "r.(?)" "p.(Arg792His)" "" "0001049655" "00025526" "70" "323" "0" "323" "0" "c.323T>C" "r.(?)" "p.(Leu108Pro)" "" "0001049656" "00025526" "70" "1409" "0" "1409" "0" "c.1409G>A" "r.(?)" "p.(Arg470Gln)" "" "0001049658" "00025526" "70" "323" "0" "323" "0" "c.323T>C" "r.(?)" "p.(Leu108Pro)" "" "0001049659" "00025526" "70" "1409" "0" "1409" "0" "c.1409G>A" "r.(?)" "p.(Arg470Gln)" "" "0001055260" "00025526" "50" "520" "-5" "520" "-5" "c.520-5C>A" "r.spl?" "p.?" "" "0001055261" "00025526" "50" "1250" "0" "1250" "0" "c.1250C>T" "r.(?)" "p.(Thr417Met)" "" "0001055262" "00025526" "50" "1291" "0" "1291" "0" "c.1291C>T" "r.(?)" "p.(Arg431Trp)" "" "0001066304" "00025526" "30" "2074" "-3" "2074" "-3" "c.2074-3C>T" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000156584" "0000359623" "0000156584" "0000359624" "0000156585" "0000359620" "0000156585" "0000359621" "0000156585" "0000359622" "0000156586" "0000359618" "0000156586" "0000359619" "0000304555" "0000668021" "0000304556" "0000668022" "0000304556" "0000668026" "0000304557" "0000668023" "0000304557" "0000668027" "0000304558" "0000668024" "0000469374" "0001049655" "0000469374" "0001049656" "0000469375" "0001049658" "0000469375" "0001049659"