### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TUSC3) # 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}}" "TUSC3" "tumor suppressor candidate 3" "8" "p22" "unknown" "NG_012141.2" "UD_132119079832" "" "http://www.LOVD.nl/TUSC3" "Congenital Disorder of Glycosylation pages " "1" "30242" "7991" "601385" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/TUSC3_codingDNA.html" "1" "" "\"EuroglycanetCongenital Disorders of Glycosylation (CDG)
Some variants in this database are copied from the CDG database at the Euroglycanet site." "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2015-03-20 19:56:25" "00000" "2025-05-05 21:14:00" ## 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}}" "00022156" "TUSC3" "transcript variant 1" "001" "NM_006765.3" "" "NP_006756.2" "" "" "" "-344" "3540" "1047" "15397596" "15624158" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "00800" "MRT7" "mental retardation, autosomal recessive, type 7 (MRT7)" "AR" "611093" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-10-15 09:38:50" "05461" "CDG" "glycosylation, congenital disorder of (CDG)" "" "" "" "" "" "00006" "2018-07-18 09:08:14" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TUSC3" "00139" "TUSC3" "00800" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{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}}" "00183054" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}" "" "M" "" "Netherlands" "" "0" "" "" "" "23033978-Trio39" "00275639" "" "" "" "2" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "4-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "FamMR90Pat5" "00275640" "" "" "00275639" "1" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "FamMR90Pat6" "00294602" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00303629" "" "" "" "3" "" "00006" "{PMID:Makrythanasis 2014:25044680}" "family, 3 affected" "" "yes" "Jordan" "" "0" "" "" "" "Family_43" "00311383" "" "" "" "1" "" "00006" "{PMID:Granadillo 2020:32152250}" "" "M" "" "" "" "0" "" "" "white" "Pat1" "00374565" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4436" "00385766" "" "" "" "7" "" "00006" "{PMID:Ghosh 2017:28424003}" "4-generation family, 7 affected (4F, 3M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "FamPatIV1" "00385767" "" "" "00385766" "1" "" "00006" "{PMID:Ghosh 2017:28424003}" "PatIV2" "M" "yes" "Pakistan" "" "0" "" "" "" "FamPatIV2" "00385771" "" "" "00385766" "1" "" "00006" "{PMID:Ghosh 2017:28424003}" "PatIV3" "F" "yes" "Pakistan" "" "0" "" "" "" "FamPatIV3" "00385772" "" "" "" "1" "" "00006" "{PMID:Molinari 2008:18455129}" "5-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives" "F;M" "yes" "France" "" "0" "" "" "" "Fam1PatV1/4" "00385774" "" "" "" "3" "" "00006" "{PMID:Garshasbi 2011:21739581}" "5-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Iran" "" "0" "" "" "" "FamPatIV4/6/7" "00385775" "" "" "" "4" "" "00006" "{PMID:Al-Amri 2016:27148795}" "5-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Oman" "" "0" "" "" "" "family" "00385776" "" "" "" "7" "" "00006" "{PMID:Garshasbi 2008:18452889}" "4-generation family, 7 affected (5F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Iran" "" "0" "" "" "" "family" "00385777" "" "" "" "1" "" "00006" "{PMID:Khan 2011:21513506}" "4-generation family, 6 affected (3F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "family" "00385778" "" "" "" "1" "" "00006" "{PMID:Loddo 2013:23825019}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Italy" "" "0" "" "" "" "patient" "00385779" "" "" "" "2" "" "00006" "{PMID:El Chehadeh 2015:25626710}" "6-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives" "F;M" "yes" "France" "" "0" "" "" "" "family" "00428023" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A188" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00183054" "00139" "00275639" "00139" "00275640" "00139" "00294602" "00198" "00303629" "00198" "00311383" "05611" "00374565" "00198" "00385766" "05461" "00385767" "05461" "00385771" "00139" "00385772" "00139" "00385774" "00139" "00385775" "00139" "00385776" "00139" "00385777" "00139" "00385778" "00139" "00385779" "00139" "00428023" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00800, 05461, 05611 ## Count = 17 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "0000143807" "00139" "00183054" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "intellectual disability (ID)" "" "0000210250" "00139" "00275639" "00006" "Familial, autosomal recessive" "18y" "OFC 53cm; IQ 40, moderate intellectual disability (HP:0002342); poor speech, seizures, depressive nature" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000210251" "00139" "00275640" "00006" "Familial, autosomal recessive" "8y" "OFC 47cm; IQ 25, severe intellectual disability (HP:0010864); aggressive behavior" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000230693" "00198" "00303629" "00006" "Familial, autosomal recessive" "" "see paper; ..., syndromic intellectual disability/developmental delay" "" "" "" "" "" "" "" "" "" "" "syndromic ID/DD" "" "0000236630" "05611" "00311383" "00006" "Isolated (sporadic)" "6y" "birth weight normal, length normal; normal height, normal weight, OFC 2.05; developmental delay/intellectual disability; gross motor delay, fine motor delay; speech delay, 2y-first words; poor socialization, attention deficit hyperactivity disorder; hypotonia; no sleep problems; no hearing loss; abnormal eye convergence, saccadic eye movements, congenital entropion; no musculoskeletal anomalies; normal skin; normal face, frontal bossing, normal eyes, normal ears, normal nose, thin upper lip; no gastrointestinal problems; MRI brain Chiari Type 1 malformation, flattening of anterior pituitary; ECG patent foramen ovale, dilated aortic root (z-score=2.4); EKG RV conduction delay; mother is “low functioning”, father has intellectual disability" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000269775" "00198" "00374565" "00006" "Familial, autosomal recessive" "" "attention difficulty, head hitting when angry, strabismus, difficulty in walking, no eye contact and does not recognize family members" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000279579" "05461" "00385766" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., microcephaly; developmental delay; intellectual disability; no cerebellar atrophy; seizures; abnormal visual development; optic atrophy; hypotonia; no self-injurious behavior; no sleep disturbance; no stereotypic behaviors; episodic hypothermia, reduced consciousness; failure to thrive; feeding problems; gastrointestinal symptoms/gastrostomy" "" "" "" "" "" "" "" "" "" "CDG1W" "congenital disorder of glycosylation" "" "0000279580" "05461" "00385767" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., no microcephaly; developmental delay; intellectual disability; no cerebellar atrophy; seizures; normal visual development; optic atrophy; hypotonia; no self-injurious behavior; no sleep disturbance; no stereotypic behaviors; episodic hypothermia, reduced consciousness; no failure to thrive; feeding problems; gastrointestinal symptoms/gastrostomy" "" "" "" "" "" "" "" "" "" "CDG1W" "congenital disorder of glycosylation" "" "0000279584" "00139" "00385771" "00006" "Familial, autosomal recessive" "08y" "intellectual disability, mild developmental delay, microcephaly" "" "" "" "" "" "" "" "" "" "MRT7" "intellectual disability" "" "0000279585" "00139" "00385772" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe intellectual disability, nonprogressive; normal height, normal weight, normal OFC; no malformations, normal metabolic screening (amino acid chromatography, blood lactate and pyruvate levels, liver function, and ammonemia); normal bone X-rays, normal cerebral MRI, normal ECG" "" "" "" "" "" "" "" "" "" "MRT7" "intellectual disability" "" "0000279587" "00139" "00385774" "00006" "Familial, autosomal recessive" "" "see paper; ..., non-syndromic intellectual disability" "" "" "" "" "" "" "" "" "" "MRT7" "intellectual disability" "" "0000279588" "00139" "00385775" "00006" "Familial, autosomal recessive" "" "see paper; ..., intellectual disability" "" "" "" "" "" "" "" "" "" "MRT7" "intellectual disability" "" "0000279589" "00139" "00385776" "00006" "Familial, autosomal recessive" "" "see paper; ..., intellectual disability" "" "" "" "" "" "" "" "" "" "MRT7" "intellectual disability" "" "0000279590" "00139" "00385777" "00006" "Familial, autosomal recessive" "" "see paper; ..., intellectual disability" "" "" "" "" "" "" "" "" "" "MRT7" "intellectual disability" "" "0000279591" "00139" "00385778" "00006" "Familial, autosomal recessive" "" "see paper; , intellectual disability" "" "" "" "" "" "" "" "" "" "MRT7" "intellectual disability" "" "0000279592" "00139" "00385779" "00006" "Familial, autosomal recessive" "" "see paper; ..., intellectual disability" "" "" "" "" "" "" "" "" "" "MRT7" "intellectual disability" "" "0000318969" "00198" "00428023" "00006" "Familial, autosomal recessive" "27y" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000184014" "00183054" "1" "00006" "00006" "2018-10-12 16:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276797" "00275639" "1" "00006" "00006" "2020-01-11 17:34:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276798" "00275640" "1" "00006" "00006" "2020-01-11 17:34:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000295770" "00294602" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304757" "00303629" "1" "00006" "00006" "2020-06-17 11:20:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312553" "00311383" "1" "00006" "00006" "2020-09-24 16:15:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000375759" "00374565" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000386994" "00385766" "1" "00006" "00006" "2021-10-15 09:33:58" "" "" "arraySNP;SEQ" "DNA" "" "" "0000386995" "00385767" "1" "00006" "00006" "2021-10-15 09:33:58" "" "" "arraySNP;SEQ" "DNA" "" "" "0000386999" "00385771" "1" "00006" "00006" "2021-10-15 09:48:19" "" "" "arraySNP" "DNA" "" "" "0000387000" "00385772" "1" "00006" "00006" "2021-10-15 09:59:30" "" "" "arraySNP;SEQ" "DNA" "" "" "0000387002" "00385774" "1" "00006" "00006" "2021-10-15 10:49:37" "" "" "arraySNP;SEQ" "DNA" "" "" "0000387003" "00385775" "1" "00006" "00006" "2021-10-15 10:54:53" "" "" "arraySNP;arrayCNV;SEQ" "DNA" "" "" "0000387004" "00385776" "1" "00006" "00006" "2021-10-15 11:09:28" "" "" "arraySNP;SEQ" "DNA" "" "" "0000387005" "00385777" "1" "00006" "00006" "2021-10-15 11:20:50" "" "" "arraySNP;SEQ" "DNA" "" "" "0000387006" "00385778" "1" "00006" "00006" "2021-10-15 11:31:22" "" "" "arraySNP" "DNA" "" "" "0000387007" "00385779" "1" "00006" "00006" "2021-10-15 11:42:34" "" "" "arraySNP;RT-PCR;SEQ" "DNA;RNA" "" "" "0000429436" "00428023" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "urothelial cells" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{geneid}}" "0000276797" "TUSC3" "0000276798" "TUSC3" "0000304757" "TUSC3" "0000312553" "TNRC6B" "0000375759" "TUSC3" "0000386994" "STT3A" "0000386995" "STT3A" "0000386999" "TUSC3" "0000387000" "TUSC3" "0000387002" "TUSC3" "0000387003" "TUSC3" "0000387004" "TUSC3" "0000387005" "TUSC3" "0000387006" "TUSC3" "0000387007" "TUSC3" ## 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 = 25 "{{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}}" "0000312883" "0" "10" "8" "15508200" "15508200" "subst" "0.344725" "02325" "TUSC3_000001" "g.15508200T>C" "" "" "" "TUSC3(NM_006765.4):c.309-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15650691T>C" "" "benign" "" "0000312884" "0" "30" "8" "15508338" "15508338" "subst" "6.90428E-5" "02325" "TUSC3_000002" "g.15508338C>T" "" "" "" "TUSC3(NM_006765.4):c.426+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15650829C>T" "" "likely benign" "" "0000407984" "0" "50" "8" "15531286" "15531286" "subst" "0" "00006" "TUSC3_000003" "g.15531286A>G" "" "{PMID:de Ligt 2012:23033978}" "" "NM_006765.3:c.739A>G (Met247Val)" "variant not associated with phenotype" "De novo" "" "" "0" "" "" "g.15673777A>G" "" "VUS" "" "0000534378" "0" "90" "8" "15519677" "15519677" "subst" "0" "02326" "TUSC3_000004" "g.15519677A>T" "" "" "" "TUSC3(NM_006765.4):c.580A>T (p.R194*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15662168A>T" "" "pathogenic" "" "0000611548" "0" "70" "8" "15397942" "15397942" "subst" "0" "02327" "TUSC3_000006" "g.15397942G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15540433G>A" "" "likely pathogenic" "" "0000630936" "3" "90" "8" "15531261" "15531261" "subst" "4.88842E-5" "00006" "TUSC3_000007" "g.15531261A>G" "" "{PMID:Santos-Cortez 2018:30167849}" "" "" "" "Germline" "" "" "0" "" "" "g.15673752A>G" "" "pathogenic (recessive)" "" "0000630937" "3" "90" "8" "15531261" "15531261" "subst" "4.88842E-5" "00006" "TUSC3_000007" "g.15531261A>G" "" "{PMID:Santos-Cortez 2018:30167849}" "" "" "" "Germline" "" "" "0" "" "" "g.15673752A>G" "" "pathogenic (recessive)" "" "0000652459" "1" "50" "8" "15605938" "15605938" "subst" "8.12982E-5" "03575" "TUSC3_000008" "g.15605938C>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs200667343}" "Germline" "" "rs200667343" "0" "" "" "g.15748429C>A" "" "VUS" "" "0000668261" "3" "90" "8" "15517133" "15517133" "subst" "0" "00006" "TUSC3_000009" "g.15517133A>T" "" "{PMID:Makrythanasis 2014:25044680}" "" "" "" "Germline" "" "" "0" "" "" "g.15659624A>T" "" "pathogenic (recessive)" "" "0000694169" "0" "70" "8" "15428402" "15531636" "del" "0" "00006" "TUSC3_000010" "g.(?_15428402)_(15531636_?)del" "" "{PMID:Granadillo 2020:32152250}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "arr[hg19] 8p22(15,428,402-15,531,636)x1" "" "" "VUS" "" "0000721886" "0" "70" "8" "15397940" "15397940" "subst" "0" "01943" "TUSC3_000011" "g.15397940A>T" "" "" "" "TUSC3(NM_001356429.1):c.1A>T (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000787110" "3" "70" "8" "15508206" "15621757" "del" "0" "00006" "TUSC3_000012" "g.(?_15508206)_(15621757_?)del" "" "{PMID:Ganapathy 2019:31069529}" "" "chr8:15508206-?_15621757+?del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000803565" "0" "30" "8" "15531315" "15531315" "subst" "0.000358318" "01943" "TUSC3_000013" "g.15531315T>C" "" "" "" "TUSC3(NM_001356429.1):c.768T>C (p.Y256=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000814848" "3" "90" "8" "15498361" "15842386" "del" "0" "00006" "TUSC3_000014" "g.(?_15498361)_(15842386_?)del" "" "{PMID:Ghosh 2017:28424003}" "" "" "464kb deletion" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814849" "1" "90" "8" "15498361" "15842386" "del" "0" "00006" "TUSC3_000014" "g.(?_15498361)_(15842386_?)del" "" "{PMID:Ghosh 2017:28424003}" "" "" "464kb deletion" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814850" "3" "90" "8" "15498361" "15842386" "del" "0" "00006" "TUSC3_000014" "g.(?_15498361)_(15842386_?)del" "" "{PMID:Ghosh 2017:28424003}" "" "" "464kb deletion" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000814851" "3" "90" "8" "15531333" "15531333" "dup" "0" "00006" "TUSC3_000015" "g.15531333dup" "" "{PMID:Molinari 2008:18455129}" "" "787_788insC" "" "Germline" "yes" "" "0" "" "" "g.15673824dup" "" "pathogenic (recessive)" "" "0000814853" "3" "90" "8" "15480613" "15480613" "subst" "0" "00006" "TUSC3_000016" "g.15480613C>T" "" "{PMID:Garshasbi 2011:21739581}" "" "" "" "Germline" "yes" "" "0" "" "" "g.15623104C>T" "" "pathogenic (recessive)" "" "0000814854" "3" "90" "8" "15480675" "15480675" "del" "0" "00006" "TUSC3_000017" "g.15480675del" "" "{PMID:Al-Amri 2016:27148795}" "" "222delA" "" "Germline" "yes" "" "0" "" "" "g.15623166del" "" "pathogenic (recessive)" "" "0000814855" "3" "90" "8" "15303484" "15425077" "del" "0" "00006" "TUSC3_000018" "g.15303484_15425077del" "" "{PMID:Garshasbi 2008:18452889}" "" "hg18 chr8:15347852-15469447del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000814856" "3" "90" "8" "15477319" "15647991" "del" "0" "00006" "TUSC3_000019" "g.15477319_15647991del" "" "{PMID:Khan 2011:21513506}" "" "hg18 chr8:15521688-15692362del" "171 kb deletion" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000814857" "3" "90" "8" "15230119" "15433672" "del" "0" "00006" "TUSC3_000020" "g.(?_15230119)_(15433672_?)del" "" "{PMID:Loddo 2013:23825019}" "" "15,230,119-15,433,672 del" "203  kb deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000814858" "3" "90" "8" "15403439" "15581139" "dup" "0" "00006" "TUSC3_000021" "g.(?_15403439)_(15581139_?)dup" "" "{PMID:El Chehadeh 2015:25626710}" "" "15403439–15581139dup" "genomic nucleotide positions in paper are not correct" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000908909" "3" "70" "8" "15508323" "15508323" "subst" "4.06088E-6" "00006" "TUSC3_000022" "g.15508323G>A" "" "{PMID:Bournazos 2022:34906502}" "" "" "transcripts cycloheximide insensitive" "Germline/De novo (untested)" "" "" "0" "" "" "g.15650814G>A" "" "likely pathogenic (recessive)" "" "0001036889" "0" "50" "8" "15615538" "15615538" "subst" "0" "01804" "TUSC3_000023" "g.15615538G>A" "" "" "" "TUSC3(NM_001356429.2):c.*47-1G>A" "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 TUSC3 ## Count = 25 "{{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}}" "0000312883" "00022156" "10" "309" "-6" "309" "-6" "c.309-6T>C" "r.(=)" "p.(=)" "" "0000312884" "00022156" "30" "426" "15" "426" "15" "c.426+15C>T" "r.(=)" "p.(=)" "" "0000407984" "00022156" "00" "739" "0" "739" "0" "c.739A>G" "r.(?)" "p.(Met247Val)" "" "0000534378" "00022156" "90" "580" "0" "580" "0" "c.580A>T" "r.(?)" "p.(Arg194Ter)" "" "0000611548" "00022156" "70" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "" "0000630936" "00022156" "90" "714" "0" "714" "0" "c.714A>G" "r.[(714a>g),spl]" "p.[(Ile238Met),?]" "" "0000630937" "00022156" "90" "714" "0" "714" "0" "c.714A>G" "r.[(714a>g),spl]" "p.[(Ile238Met),?]" "" "0000652459" "00022156" "50" "992" "0" "992" "0" "c.992C>A" "r.(?)" "p.(Ser331*)" "" "0000668261" "00022156" "90" "544" "0" "544" "0" "c.544A>T" "r.(?)" "p.(Ile182Phe)" "" "0000694169" "00022156" "70" "138" "30325" "798" "291" "c.(?_138+30325)_(798+291_?)del" "r.(?)" "p.(Asn47_Val266del)" "" "0000721886" "00022156" "70" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "" "0000787110" "00022156" "70" "309" "-1" "1048" "0" "c.(308+1_309-1)_ (*1_?)del" "r.?" "p.?" "2i_11_" "0000803565" "00022156" "30" "768" "0" "768" "0" "c.768T>C" "r.(?)" "p.(Tyr256=)" "" "0000814848" "00022156" "90" "0" "0" "0" "0" "c.(?_309-9845)_*2493{0}" "r.?" "p.?" "_2i_11_" "0000814849" "00022156" "90" "0" "0" "0" "0" "c.(?_309-9845)_*2493{0}" "r.?" "p.?" "_2i_11_" "0000814850" "00022156" "90" "0" "0" "0" "0" "c.(?_309-9845)_*2493{0}" "r.?" "p.?" "_2i_11_" "0000814851" "00022156" "90" "786" "0" "786" "0" "c.786dup" "r.(?)" "p.(Asn263Glnfs*38)" "" "0000814853" "00022156" "90" "163" "0" "163" "0" "c.163C>T" "r.(?)" "p.(Gln55*)" "" "0000814854" "00022156" "90" "225" "0" "225" "0" "c.225del" "r.(?)" "p.(Lys75Asnfs*3)" "" "0000814855" "00022156" "90" "0" "0" "0" "0" "c.-344_138+27000{0}" "r.0?" "p.0?" "_1_1i" "0000814856" "00022156" "90" "0" "0" "0" "0" "c.139-3270_*2493{0}" "r.?" "p.?" "1i_11_" "0000814857" "00022156" "90" "0" "0" "0" "0" "c.-344_(138+35595_?){0}" "r.0?" "p.0?" "_1_1i_" "0000814858" "00022156" "90" "138" "5362" "799" "-7036" "c.(?_138+5362)_(799-7036_?)dup" "r.862_863ins[[NC_000008.10:g.15388432_15388526];139_?]" "p.?" "1i_7i" "0000908909" "00022156" "70" "426" "0" "426" "0" "c.426G>A" "r.309_426del" "p.Arg103Serfs*4" "" "0001036889" "00022156" "50" "1093" "174" "1093" "174" "c.*46+174G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{variantid}}" "0000184014" "0000407984" "0000276797" "0000630936" "0000276798" "0000630937" "0000295770" "0000652459" "0000304757" "0000668261" "0000312553" "0000694169" "0000375759" "0000787110" "0000386994" "0000814848" "0000386995" "0000814849" "0000386999" "0000814850" "0000387000" "0000814851" "0000387002" "0000814853" "0000387003" "0000814854" "0000387004" "0000814855" "0000387005" "0000814856" "0000387006" "0000814857" "0000387007" "0000814858" "0000429436" "0000908909"