### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TGFB2) # 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}}" "TGFB2" "transforming growth factor, beta 2" "1" "q41" "unknown" "NG_027721.2" "UD_132085371547" "" "https://www.LOVD.nl/TGFB2" "" "1" "11768" "7042" "190220" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/TGFB2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-01-03 17:48:16" "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}}" "00021044" "TGFB2" "transcript variant 2" "002" "NM_003238.3" "" "NP_003229.1" "" "" "" "-1368" "4502" "1245" "218518676" "218617961" "" "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" "00203" "LDS4" "Loeys-Dietz syndrome, type 4 (LDS_4)" "AD" "614816" "" "hypertelorism (HP:0000316); bifid uvula (HP:0000193)/cleft palate (HP:0000175); exotropia (HP:0000577); no craniosynostosis (-HP:0001363); no cervical spine instability (-HP:0010646); retrognathia (HP:0000278); scoliosis (HP:0002650); club foot (HP:0001762); osteoarthritis (HP:0002758); dural ectasia (HP:0100775); pneumothorax (HP:0002107); hernia (HP:0100790); dissection at young age; arterial tortuosity (HP:0005116)" "" "00006" "2013-09-20 17:42:46" "00006" "2022-01-03 17:48:35" "00884" "LDS" "Loeys-Dietz syndrome (LDS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04193" "TAAD" "aneurysms, aortic, thoracic, dissections (TAAD)" "" "" "" "" "" "00006" "2015-02-14 21:35:57" "00006" "2016-03-20 12:15:43" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "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}}" "TGFB2" "00203" "TGFB2" "00884" ## Individuals ## Do not remove or alter this header ## ## Count = 32 "{{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}}" "00002976" "" "" "" "5" "" "00138" "3-generation family, 5 affected (5M)" "" "M" "no" "Germany" "" "0" "" "" "white" "FamPatII2" "00004126" "" "" "" "1" "" "00138" "" "Marfan syndrome / Loeys-Dietz-syndrome spectrum disorder" "" "" "Germany" "" "0" "" "" "" "" "00004127" "" "" "" "1" "" "00138" "" "Marfan syndrome / Loeys-Dietz-syndrome spectrum disorder" "" "" "Germany" "" "0" "" "" "" "" "00081071" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00286187" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00289718" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289719" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295360" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305552" "" "" "" "1" "" "00006" "{PMID:Vissers 2020:32553196}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Individual 38" "00390427" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001037" "00398111" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat49" "00398112" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat50" "00398113" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat51" "00398114" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat52" "00398125" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat64" "00398309" "" "" "" "1" "" "00006" "{PMID:Fontana 2014:24440784}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Italy" "" "0" "" "" "" "patient" "00398333" "" "" "" "2" "" "00006" "{PMID:Schubert 2016:26854089}" "3-generation family, affected father/son" "M" "" "United States" "" "0" "" "" "" "Fam1PatIII3" "00398344" "" "" "" "1" "" "00006" "{PMID:Renard 2013:23102774}" "" "F" "" "Belgium" "" "0" "" "" "" "Pat1" "00398345" "" "" "" "1" "" "00006" "{PMID:Renard 2013:23102774}" "" "M" "" "Belgium" "" "0" "" "" "" "Pat2" "00398346" "" "" "" "1" "" "00006" "{PMID:Renard 2013:23102774}" "" "F" "" "Belgium" "" "0" "" "" "" "Pat3" "00398347" "" "" "" "1" "" "00006" "{PMID:Renard 2013:23102774}" "" "M" "" "Belgium" "" "0" "" "" "" "Pat4" "00398348" "" "" "" "1" "" "00006" "{PMID:Renard 2013:23102774}" "" "M" "" "Belgium" "" "0" "" "" "" "Pat5" "00398349" "" "" "" "1" "" "00006" "{PMID:Renard 2013:23102774}" "" "M" "" "Belgium" "" "0" "" "" "" "Pat6" "00418566" "" "" "" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "proband" "" "" "United States" "" "0" "" "" "" "PatXXVII" "00418567" "" "" "" "3" "" "00006" "{PMID:Almpani 2022:34916229}" "family, proband" "" "" "United States" "" "0" "" "" "" "FamPatXXVIIIA" "00418568" "" "" "00418567" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "offspring" "" "" "United States" "" "0" "" "" "" "FamPatXXVIIIB" "00418569" "" "" "00418567" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "offspring" "" "" "United States" "" "0" "" "" "" "FamPatXXVIIIC" "00418570" "" "" "" "3" "" "00006" "{PMID:Almpani 2022:34916229}" "family, father" "" "" "United States" "" "0" "" "" "" "FamPatXXIXA" "00418571" "" "" "00418570" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "sibling" "" "" "United States" "" "0" "" "" "" "FamPatXXIXB" "00418572" "" "" "00418570" "1" "" "00006" "{PMID:Almpani 2022:34916229}" "offspring" "" "" "United States" "" "0" "" "" "" "FamPatXXIXC" "00419624" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "9058" "00460910" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 32 "{{individualid}}" "{{diseaseid}}" "00002976" "00203" "00004126" "00198" "00004127" "00198" "00081071" "00203" "00286187" "00203" "00289718" "00198" "00289719" "00198" "00295360" "00198" "00305552" "05611" "00390427" "04214" "00398111" "00198" "00398112" "00198" "00398113" "00198" "00398114" "00198" "00398125" "00198" "00398309" "00198" "00398333" "00884" "00398344" "04193" "00398345" "04193" "00398346" "04193" "00398347" "04193" "00398348" "04193" "00398349" "04193" "00418566" "00884" "00418567" "00884" "00418568" "00884" "00418569" "00884" "00418570" "00884" "00418571" "00884" "00418572" "00884" "00419624" "00198" "00460910" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00203, 00884, 04193, 04214, 05611 ## Count = 25 "{{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}}" "0000001843" "00203" "00002976" "00138" "Familial, autosomal dominant" "51y" "aortic artery aneurysm, arterial tortuosity, scoliosis, foot deformity, retrognathia, hernia; aortic repair" "" "" "" "" "" "" "" "" "" "" "" "0000060640" "00203" "00081071" "01758" "Isolated (sporadic)" "" "Loeys-Dietz syndrome 4 (OMIM:614816)" "" "" "" "" "" "" "" "" "" "" "" "0000231401" "05611" "00305552" "00006" "Isolated (sporadic)" "22y" "birth 40w, weight 2948 (normal), OFC (<-2.0 SD); height 161 (<-3.0 SD), weight 49.4 (normal), OFC 49.7 (<-3.0 SD); moderate intellectual disability; developmental delay; no motor delay; speech delay; no dysarthria; 2y-epilepsy; no hypotonia; no spasticity; no ataxia; no behavioral disturbances; no sleep disturbances; facial abnormalities; Aortic root dilation, on losartan: NA; no dysphagia/feeding difficulties: NA: Scoliosis; no hearing abnormalities; Myopia: NA; Dystonia; MRI-brain no holoprosencephaly, Chiari 1 malformation, microcephaly" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000283965" "04214" "00390427" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000291221" "00198" "00398111" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291222" "00198" "00398112" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291223" "00198" "00398113" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291224" "00198" "00398114" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291235" "00198" "00398125" "00006" "Unknown" "17y" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291433" "00198" "00398309" "00006" "Isolated (sporadic)" "18y" "see paper; ..., feeding difficulties, hypotonia, congenital hip dysplasia" "" "" "feeding difficulties, hypotonia" "" "" "" "" "" "" "" "" "0000291456" "00884" "00398333" "00006" "Familial, autosomal dominant" "19y" "see paper; ..., borderline TAA" "" "" "" "" "" "" "" "" "" "" "" "0000291467" "04193" "00398344" "00006" "Unknown" "69y" "aorta type A dissection, normal mitral valve; flat feet, hallux valgus; mother died in childbirth, 41y-sister died from dissection" "" "60y" "" "" "" "" "" "" "" "thoracic aortic aneurysms and dissections" "" "0000291468" "04193" "00398345" "00006" "Unknown" "60y" "thoracic aortic aneurysm (43 mm z 2.7), mitral valve prolapse, mitral valve replacement; clubfeet, joint laxity, mild pectus carinatum;h igh arched palate; varicose veins; myopia" "" "56y" "" "" "" "" "" "" "" "thoracic aortic aneurysms and dissections" "" "0000291469" "04193" "00398346" "00006" "Unknown" "53y" "thoracic aortic aneurysm (40 mm z 5.2), mitral valve prolapse, mild mitral valve regurgitation; joint laxity as child; high palate, retrognatia; local translucency skin; myopia, astigmatism, cataract; recurrent strokes, corckscrew vertebral artery; daughter Marfanoid" "" "18y" "" "" "" "" "" "" "" "thoracic aortic aneurysms and dissections" "" "0000291470" "04193" "00398347" "00006" "Unknown" "38y" "thoracic aortic aneurysm (40 mm z 3.4), mitral valve prolapse; joint laxity; myopia, strabismus;" "" "38y" "" "" "" "" "" "" "" "thoracic aortic aneurysms and dissections" "" "0000291471" "04193" "00398348" "00006" "Unknown" "60y" "(41 m z 3.5), trivial mitral valve regurgitation; arachnodactyly, camptodactyly, kyphoscoliosis; hypertelorism, downslanting palpebral fissures, malar hypoplasia, high palate, retrognatia; skin atrophic scarring; daughter spontaneous pneumothorax, 43y-father sudden death" "" "41y" "" "" "" "" "" "" "" "thoracic aortic aneurysms and dissections" "" "0000291472" "04193" "00398349" "00006" "Unknown" "46y" "aorta type A dissection (<50 mm), mitral valve prolapse, mitral valve replacement; pectus carinatum, arachnodactyly, joint hypermobility; striae skin" "" "32y" "" "" "" "" "" "" "" "thoracic aortic aneurysms and dissections" "" "0000309903" "00884" "00418566" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "LDS4" "Loeys-Dietz syndrome" "" "0000309904" "00884" "00418567" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "LDS4" "Loeys-Dietz syndrome" "" "0000309905" "00884" "00418568" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "LDS4" "Loeys-Dietz syndrome" "" "0000309906" "00884" "00418569" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "LDS4" "Loeys-Dietz syndrome" "" "0000309907" "00884" "00418570" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "LDS4" "Loeys-Dietz syndrome" "" "0000309908" "00884" "00418571" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "LDS4" "Loeys-Dietz syndrome" "" "0000309909" "00884" "00418572" "00006" "Familial, autosomal dominant" "" "see paper (extensive phenotyping)" "" "" "" "" "" "" "" "" "LDS4" "Loeys-Dietz syndrome" "" "0000310905" "00198" "00419624" "02300" "Isolated (sporadic)" "24y" "" "" "" "" "" "" "" "" "" "" "skeletal and/or connective tissue abnormality" "" ## Screenings ## Do not remove or alter this header ## ## Count = 32 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000002881" "00002976" "1" "00138" "00138" "2013-09-23 11:48:44" "" "" "SEQ" "DNA" "" "" "0000004051" "00004126" "1" "00138" "00006" "2013-12-24 15:51:14" "" "" "SEQ" "DNA" "" "" "0000004052" "00004127" "1" "00138" "00006" "2013-12-24 15:54:38" "" "" "SEQ" "DNA" "" "" "0000081183" "00081071" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000287349" "00286187" "1" "01741" "01741" "2020-02-10 10:26:00" "" "" "SEQ-NG" "DNA" "" "" "0000290886" "00289718" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290887" "00289719" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296528" "00295360" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306681" "00305552" "1" "00006" "00006" "2020-06-28 10:52:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000391668" "00390427" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000399354" "00398111" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399355" "00398112" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399356" "00398113" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399357" "00398114" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399368" "00398125" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "MLPA" "DNA" "" "" "0000399554" "00398309" "1" "00006" "00006" "2022-01-03 20:47:24" "" "" "arrayCGH" "DNA" "" "" "0000399579" "00398333" "1" "00006" "00006" "2022-01-04 15:29:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000399590" "00398344" "1" "00006" "00006" "2022-01-04 16:51:10" "" "" "SEQ" "DNA" "" "" "0000399591" "00398345" "1" "00006" "00006" "2022-01-04 16:51:10" "" "" "SEQ" "DNA" "" "" "0000399592" "00398346" "1" "00006" "00006" "2022-01-04 16:51:10" "" "" "SEQ" "DNA" "" "" "0000399593" "00398347" "1" "00006" "00006" "2022-01-04 16:51:10" "" "" "SEQ" "DNA" "" "" "0000399594" "00398348" "1" "00006" "00006" "2022-01-04 16:51:10" "" "" "SEQ" "DNA" "" "" "0000399595" "00398349" "1" "00006" "00006" "2022-01-04 16:51:10" "" "" "SEQ" "DNA" "" "" "0000419861" "00418566" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419862" "00418567" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419863" "00418568" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419864" "00418569" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419865" "00418570" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419866" "00418571" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000419867" "00418572" "1" "00006" "00006" "2022-09-30 10:17:41" "" "" "SEQ" "DNA" "" "" "0000420928" "00419624" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000462542" "00460910" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 27 "{{screeningid}}" "{{geneid}}" "0000002881" "TGFB2" "0000004051" "TGFB2" "0000004052" "TGFB2" "0000081183" "TGFB2" "0000287349" "TGFB2" "0000306681" "CNOT1" "0000391668" "USH2A" "0000399354" "TGFB2" "0000399355" "TGFB2" "0000399356" "TGFB2" "0000399357" "FBN1" "0000399357" "TGFB2" "0000399368" "TGFB2" "0000399590" "TGFB2" "0000399591" "TGFB2" "0000399592" "TGFB2" "0000399593" "TGFB2" "0000399594" "TGFB2" "0000399595" "TGFB2" "0000419861" "TGFB2" "0000419862" "TGFB2" "0000419863" "TGFB2" "0000419864" "TGFB2" "0000419865" "TGFB2" "0000419866" "TGFB2" "0000419867" "TGFB2" "0000462542" "TGFB2" ## 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 = 158 "{{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}}" "0000021240" "10" "75" "1" "218610833" "218610833" "dup" "0" "00138" "TGFB2_000001" "g.218610833dup" "" "{PMID:Leutermann 2014:24193348}" "" "NM_001135599.2:c.1165dupA" "" "Germline" "yes" "" "0" "" "" "g.218437491dup" "" "likely pathogenic" "" "0000022960" "0" "15" "1" "218614743" "218614743" "subst" "0.0167881" "00138" "TGFB2_000002" "g.218614743G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.218441401G>A" "" "benign" "" "0000022961" "0" "15" "1" "218614743" "218614743" "subst" "0.0167881" "00138" "TGFB2_000002" "g.218614743G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.218441401G>A" "" "benign" "" "0000130269" "0" "70" "1" "218609462" "218609462" "subst" "0" "01758" "TGFB2_000003" "g.218609462G>C" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.218436120G>C" "" "likely pathogenic" "ACMG" "0000250184" "0" "10" "1" "218607563" "218607563" "subst" "0.00317653" "02329" "TGFB2_000018" "g.218607563A>C" "" "" "" "TGFB2(NM_001135599.2):c.727+7A>C (p.(=)), TGFB2(NM_001135599.4):c.727+7A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218434221A>C" "" "benign" "" "0000311810" "0" "10" "1" "218610679" "218610679" "del" "0" "02325" "TGFB2_000023" "g.218610679del" "" "" "" "TGFB2(NM_001135599.3):c.1017-6delT, TGFB2(NM_001135599.4):c.1017-6delT, TGFB2(NM_003238.3):c.933-6delT (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218437337del" "" "benign" "" "0000313276" "0" "90" "1" "218610684" "218610684" "subst" "0" "02329" "TGFB2_000024" "g.218610684G>T" "" "" "" "TGFB2(NM_001135599.4):c.1017-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218437342G>T" "" "pathogenic" "" "0000313277" "0" "50" "1" "218610809" "218610809" "subst" "3.25998E-5" "02329" "TGFB2_000026" "g.218610809T>G" "" "" "" "TGFB2(NM_001135599.4):c.1141T>G (p.L381V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218437467T>G" "" "VUS" "" "0000313278" "0" "10" "1" "218520157" "218520157" "subst" "0.00300921" "02329" "TGFB2_000004" "g.218520157G>A" "" "" "" "TGFB2(NM_001135599.3):c.114G>A (p.E38=), TGFB2(NM_001135599.4):c.114G>A (p.E38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218346815G>A" "" "benign" "" "0000313283" "0" "10" "1" "218578715" "218578717" "del" "0" "02329" "TGFB2_000012" "g.218578715_218578717del" "" "" "" "TGFB2(NM_001135599.4):c.594+41_594+43delGTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218405373_218405375del" "" "benign" "" "0000313285" "0" "90" "1" "218607538" "218607538" "subst" "0" "02329" "TGFB2_000017" "g.218607538G>T" "" "" "" "TGFB2(NM_001135599.4):c.709G>T (p.E237*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218434196G>T" "" "pathogenic" "" "0000313286" "0" "30" "1" "218607572" "218607572" "subst" "0" "02329" "TGFB2_000019" "g.218607572C>G" "" "" "" "TGFB2(NM_001135599.4):c.727+16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218434230C>G" "" "likely benign" "" "0000313287" "0" "70" "1" "218609452" "218609452" "subst" "0" "02329" "TGFB2_000022" "g.218609452C>T" "" "" "" "TGFB2(NM_001135599.4):c.979C>T (p.R327W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218436110C>T" "" "likely pathogenic" "" "0000314502" "0" "30" "1" "218578712" "218578717" "del" "0" "02326" "TGFB2_000013" "g.218578712_218578717del" "" "" "" "TGFB2(NM_001135599.3):c.594+38_594+43delGTTGTT, TGFB2(NM_001135599.4):c.594+38_594+43delGTTGTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218405370_218405375del" "" "likely benign" "" "0000314505" "0" "10" "1" "218607297" "218607297" "subst" "0" "02326" "TGFB2_000016" "g.218607297C>A" "" "" "" "TGFB2(NM_001135599.3):c.595-127C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218433955C>A" "" "benign" "" "0000314506" "0" "10" "1" "218607861" "218607861" "subst" "0" "02326" "TGFB2_000021" "g.218607861T>C" "" "" "" "TGFB2(NM_001135599.3):c.838+71T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218434519T>C" "" "benign" "" "0000316503" "0" "10" "1" "218610679" "218610679" "del" "0" "01943" "TGFB2_000023" "g.218610679del" "" "" "" "TGFB2(NM_001135599.3):c.1017-6delT, TGFB2(NM_001135599.4):c.1017-6delT, TGFB2(NM_003238.3):c.933-6delT (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218437337del" "" "benign" "" "0000316505" "0" "30" "1" "218614698" "218614698" "subst" "0.000702815" "01943" "TGFB2_000027" "g.218614698C>T" "" "" "" "TGFB2(NM_001135599.2):c.1323C>T (p.(Cys441=)), TGFB2(NM_001135599.3):c.1323C>T (p.C441=), TGFB2(NM_003238.4):c.1239C>T (p.C413=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218441356C>T" "" "likely benign" "" "0000316507" "0" "30" "1" "218578520" "218578520" "subst" "0.000410551" "01943" "TGFB2_000006" "g.218578520C>T" "" "" "" "TGFB2(NM_001135599.3):c.440C>T (p.P147L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218405178C>T" "" "likely benign" "" "0000316508" "0" "30" "1" "218578570" "218578570" "subst" "4.06355E-6" "01943" "TGFB2_000007" "g.218578570G>A" "" "" "" "TGFB2(NM_001135599.3):c.490G>A (p.A164T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218405228G>A" "" "likely benign" "" "0000316509" "0" "30" "1" "218607759" "218607759" "subst" "0" "01943" "TGFB2_000020" "g.218607759T>C" "" "" "" "TGFB2(NM_001135599.3):c.807T>C (p.N269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.218434417T>C" "" "likely benign" "" "0000505409" "0" "30" "1" "218520083" "218520083" "subst" "8.13107E-6" "01943" "TGFB2_000029" "g.218520083C>T" "" "" "" "TGFB2(NM_001135599.3):c.40C>T (p.L14=), TGFB2(NM_001135599.4):c.40C>T (p.L14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218346741C>T" "" "likely benign" "" "0000505410" "0" "10" "1" "218520157" "218520157" "subst" "0.00300921" "02326" "TGFB2_000004" "g.218520157G>A" "" "" "" "TGFB2(NM_001135599.3):c.114G>A (p.E38=), TGFB2(NM_001135599.4):c.114G>A (p.E38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218346815G>A" "" "benign" "" "0000505411" "0" "50" "1" "218520288" "218520288" "subst" "0" "02326" "TGFB2_000030" "g.218520288C>T" "" "" "" "TGFB2(NM_001135599.3):c.245C>T (p.A82V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218346946C>T" "" "VUS" "" "0000505412" "0" "50" "1" "218520315" "218520315" "subst" "0.00397574" "01943" "TGFB2_000031" "g.218520315G>A" "" "" "" "TGFB2(NM_001135599.2):c.272G>A (p.(Arg91His)), TGFB2(NM_001135599.3):c.272G>A (p.R91H), TGFB2(NM_001135599.4):c.272G>A (p.R91H), TGFB2(NM_003238.4)..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218346973G>A" "" "VUS" "" "0000505413" "0" "10" "1" "218520315" "218520315" "subst" "0.00397574" "02329" "TGFB2_000031" "g.218520315G>A" "" "" "" "TGFB2(NM_001135599.2):c.272G>A (p.(Arg91His)), TGFB2(NM_001135599.3):c.272G>A (p.R91H), TGFB2(NM_001135599.4):c.272G>A (p.R91H), TGFB2(NM_003238.4)..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218346973G>A" "" "benign" "" "0000505414" "0" "90" "1" "218520329" "218520335" "dup" "0" "01943" "TGFB2_000032" "g.218520329_218520335dup" "" "" "" "TGFB2(NM_001135599.3):c.286_292dupGAAGAGT (p.Y98*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218346987_218346993dup" "" "pathogenic" "" "0000505415" "0" "30" "1" "218578497" "218578497" "subst" "0.000195848" "02326" "TGFB2_000033" "g.218578497C>G" "" "" "" "TGFB2(NM_001135599.3):c.431-14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218405155C>G" "" "likely benign" "" "0000505416" "0" "30" "1" "218578520" "218578520" "subst" "0.000410551" "02326" "TGFB2_000006" "g.218578520C>T" "" "" "" "TGFB2(NM_001135599.3):c.440C>T (p.P147L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218405178C>T" "" "likely benign" "" "0000505417" "0" "10" "1" "218578706" "218578717" "dup" "0" "02329" "TGFB2_000034" "g.218578706_218578717dup" "" "" "" "TGFB2(NM_001135599.4):c.594+24_594+35dupTTGTTGTTGTTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218405364_218405375dup" "" "benign" "" "0000505418" "0" "10" "1" "218578709" "218578717" "dup" "0" "02329" "TGFB2_000035" "g.218578709_218578717dup" "" "" "" "TGFB2(NM_001135599.4):c.594+30_594+38dupTTGTTGTTG, TGFB2(NM_001135599.4):c.594+33_594+41dupTTGTTGTTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218405367_218405375dup" "" "benign" "" "0000505419" "0" "10" "1" "218578712" "218578717" "dup" "0" "02326" "TGFB2_000036" "g.218578712_218578717dup" "" "" "" "TGFB2(NM_001135599.3):c.594+33_594+38dupTTGTTG, TGFB2(NM_001135599.4):c.594+33_594+38dupTTGTTG, TGFB2(NM_001135599.4):c.594+36_594+41dupTTGTTG, TGF..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218405370_218405375dup" "" "benign" "" "0000505420" "0" "10" "1" "218578712" "218578717" "dup" "0" "02329" "TGFB2_000036" "g.218578712_218578717dup" "" "" "" "TGFB2(NM_001135599.3):c.594+33_594+38dupTTGTTG, TGFB2(NM_001135599.4):c.594+33_594+38dupTTGTTG, TGFB2(NM_001135599.4):c.594+36_594+41dupTTGTTG, TGF..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218405370_218405375dup" "" "benign" "" "0000505421" "0" "30" "1" "218578715" "218578717" "dup" "0" "02326" "TGFB2_000037" "g.218578715_218578717dup" "" "" "" "TGFB2(NM_001135599.3):c.594+39_594+41dupTTG, TGFB2(NM_001135599.4):c.594+39_594+41dupTTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218405373_218405375dup" "" "likely benign" "" "0000505422" "0" "10" "1" "218578715" "218578717" "dup" "0" "02329" "TGFB2_000037" "g.218578715_218578717dup" "" "" "" "TGFB2(NM_001135599.3):c.594+39_594+41dupTTG, TGFB2(NM_001135599.4):c.594+39_594+41dupTTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218405373_218405375dup" "" "benign" "" "0000505423" "0" "50" "1" "218607439" "218607439" "subst" "0" "02326" "TGFB2_000038" "g.218607439G>A" "" "" "" "TGFB2(NM_001135599.3):c.610G>A (p.D204N), TGFB2(NM_001135599.4):c.610G>A (p.D204N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218434097G>A" "" "VUS" "" "0000505424" "0" "50" "1" "218607532" "218607532" "subst" "0.00329616" "01943" "TGFB2_000039" "g.218607532G>C" "" "" "" "TGFB2(NM_001135599.2):c.703G>C (p.(Val235Leu)), TGFB2(NM_001135599.3):c.703G>C (p.V235L), TGFB2(NM_001135599.4):c.703G>C (p.V235L), TGFB2(NM_00323...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218434190G>C" "" "VUS" "" "0000505425" "0" "30" "1" "218607532" "218607532" "subst" "0.00329616" "01804" "TGFB2_000039" "g.218607532G>C" "" "" "" "TGFB2(NM_001135599.2):c.703G>C (p.(Val235Leu)), TGFB2(NM_001135599.3):c.703G>C (p.V235L), TGFB2(NM_001135599.4):c.703G>C (p.V235L), TGFB2(NM_00323...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218434190G>C" "" "likely benign" "" "0000505426" "0" "30" "1" "218607532" "218607532" "subst" "0.00329616" "02326" "TGFB2_000039" "g.218607532G>C" "" "" "" "TGFB2(NM_001135599.2):c.703G>C (p.(Val235Leu)), TGFB2(NM_001135599.3):c.703G>C (p.V235L), TGFB2(NM_001135599.4):c.703G>C (p.V235L), TGFB2(NM_00323...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218434190G>C" "" "likely benign" "" "0000505427" "0" "10" "1" "218607532" "218607532" "subst" "0.00329616" "02329" "TGFB2_000039" "g.218607532G>C" "" "" "" "TGFB2(NM_001135599.2):c.703G>C (p.(Val235Leu)), TGFB2(NM_001135599.3):c.703G>C (p.V235L), TGFB2(NM_001135599.4):c.703G>C (p.V235L), TGFB2(NM_00323...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218434190G>C" "" "benign" "" "0000505428" "0" "30" "1" "218607537" "218607537" "subst" "0" "01943" "TGFB2_000040" "g.218607537T>A" "" "" "" "TGFB2(NM_001135599.3):c.708T>A (p.H236Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218434195T>A" "" "likely benign" "" "0000505429" "0" "30" "1" "218607677" "218607677" "subst" "0" "01943" "TGFB2_000041" "g.218607677C>T" "" "" "" "TGFB2(NM_001135599.3):c.728-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218434335C>T" "" "likely benign" "" "0000505430" "0" "30" "1" "218607783" "218607783" "subst" "4.90264E-5" "01943" "TGFB2_000042" "g.218607783A>G" "" "" "" "TGFB2(NM_001135599.3):c.831A>G (p.R277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218434441A>G" "" "likely benign" "" "0000505432" "0" "70" "1" "218609462" "218609462" "subst" "0" "02329" "TGFB2_000044" "g.218609462G>A" "" "" "" "TGFB2(NM_001135599.4):c.989G>A (p.R330H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218436120G>A" "" "likely pathogenic" "" "0000505434" "0" "50" "1" "218614600" "218614600" "subst" "3.66318E-5" "01943" "TGFB2_000046" "g.218614600G>A" "" "" "" "TGFB2(NM_001135599.3):c.1225G>A (p.V409M), TGFB2(NM_001135599.4):c.1225G>A (p.V409M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218441258G>A" "" "VUS" "" "0000505435" "0" "50" "1" "218614600" "218614600" "subst" "3.66318E-5" "02325" "TGFB2_000046" "g.218614600G>A" "" "" "" "TGFB2(NM_001135599.3):c.1225G>A (p.V409M), TGFB2(NM_001135599.4):c.1225G>A (p.V409M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218441258G>A" "" "VUS" "" "0000505436" "0" "30" "1" "218614600" "218614600" "subst" "3.66318E-5" "02329" "TGFB2_000046" "g.218614600G>A" "" "" "" "TGFB2(NM_001135599.3):c.1225G>A (p.V409M), TGFB2(NM_001135599.4):c.1225G>A (p.V409M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218441258G>A" "" "likely benign" "" "0000505437" "0" "50" "1" "218614627" "218614627" "subst" "0" "02326" "TGFB2_000047" "g.218614627A>G" "" "" "" "TGFB2(NM_001135599.3):c.1252A>G (p.I418V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218441285A>G" "" "VUS" "" "0000605187" "0" "30" "1" "218578520" "218578520" "subst" "0.000410551" "02327" "TGFB2_000006" "g.218578520C>T" "" "" "" "TGFB2(NM_001135599.3):c.440C>T (p.P147L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218405178C>T" "" "likely benign" "" "0000605188" "0" "30" "1" "218609451" "218609451" "subst" "0" "02327" "TGFB2_000048" "g.218609451G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218436109G>A" "" "likely benign" "" "0000605189" "0" "30" "1" "218610694" "218610694" "subst" "1.73998E-5" "01943" "TGFB2_000050" "g.218610694G>A" "" "" "" "TGFB2(NM_001135599.3):c.1026G>A (p.Q342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218437352G>A" "" "likely benign" "" "0000620506" "0" "10" "1" "218610679" "218610679" "dup" "0" "02326" "TGFB2_000049" "g.218610679dup" "" "" "" "TGFB2(NM_001135599.3):c.1017-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218437337dup" "" "benign" "" "0000643139" "0" "50" "1" "218610752" "218610752" "subst" "0" "01741" "TGFB2_000051" "g.218610752T>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.218437410T>A" "" "VUS" "" "0000647575" "1" "30" "1" "218520315" "218520315" "subst" "0.00397574" "03575" "TGFB2_000031" "g.218520315G>A" "9/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous, no homozygous; {DB:CLININrs10482721}" "Germline" "" "rs10482721" "0" "" "" "g.218346973G>A" "" "likely benign" "" "0000647576" "1" "90" "1" "218607496" "218607496" "subst" "0" "03575" "TGFB2_000053" "g.218607496G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs863223790}" "Germline" "" "rs863223790" "0" "" "" "g.218434154G>T" "" "pathogenic" "" "0000653217" "1" "70" "1" "218607680" "218607681" "ins" "0" "03575" "TGFB2_000054" "g.218607680_218607681insT" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs863223795}" "Germline" "" "rs863223795" "0" "" "" "g.218434338_218434339insT" "" "likely pathogenic" "" "0000653896" "0" "30" "1" "218607563" "218607563" "subst" "0.00317653" "01804" "TGFB2_000018" "g.218607563A>C" "" "" "" "TGFB2(NM_001135599.2):c.727+7A>C (p.(=)), TGFB2(NM_001135599.4):c.727+7A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218434221A>C" "" "likely benign" "" "0000653897" "0" "70" "1" "218609453" "218609453" "subst" "0" "01943" "TGFB2_000055" "g.218609453G>A" "" "" "" "TGFB2(NM_001135599.3):c.980G>A (p.R327Q), TGFB2(NM_001135599.4):c.980G>A (p.R327Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218436111G>A" "" "likely pathogenic" "" "0000653898" "0" "30" "1" "218609749" "218609749" "subst" "0" "02329" "TGFB2_000056" "g.218609749G>A" "" "" "" "TGFB2(NM_001135599.4):c.1016+260G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218436407G>A" "" "likely benign" "" "0000653899" "0" "30" "1" "218611168" "218611168" "subst" "0" "02329" "TGFB2_000057" "g.218611168T>A" "" "" "" "TGFB2(NM_001135599.4):c.1170+330T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.218437826T>A" "" "likely benign" "" "0000670372" "0" "50" "1" "218607681" "218607681" "" "0" "00006" "TGFB2_000058" "g.218607681C>R" "" "{PMID:Vissers 2020:32553196}" "" "Asp215Glu" "" "Germline" "" "" "0" "" "" "g.218434339C>R" "" "VUS" "" "0000675660" "0" "50" "1" "218607701" "218607701" "subst" "0" "02326" "TGFB2_000059" "g.218607701T>C" "" "" "" "TGFB2(NM_001135599.3):c.749T>C (p.I250T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675661" "0" "70" "1" "218609461" "218609461" "subst" "0" "02326" "TGFB2_000060" "g.218609461C>T" "" "" "" "TGFB2(NM_001135599.3):c.988C>T (p.R330C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000688024" "0" "50" "1" "218607532" "218607532" "subst" "0.00329616" "02325" "TGFB2_000039" "g.218607532G>C" "" "" "" "TGFB2(NM_001135599.2):c.703G>C (p.(Val235Leu)), TGFB2(NM_001135599.3):c.703G>C (p.V235L), TGFB2(NM_001135599.4):c.703G>C (p.V235L), TGFB2(NM_00323...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688025" "0" "30" "1" "218607596" "218607596" "subst" "0" "02329" "TGFB2_000061" "g.218607596T>C" "" "" "" "TGFB2(NM_001135599.4):c.727+40T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688026" "0" "90" "1" "218609453" "218609453" "subst" "0" "02327" "TGFB2_000055" "g.218609453G>A" "" "" "" "TGFB2(NM_001135599.3):c.980G>A (p.R327Q), TGFB2(NM_001135599.4):c.980G>A (p.R327Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000717172" "0" "90" "1" "218607502" "218607502" "subst" "0" "02329" "TGFB2_000062" "g.218607502G>T" "" "" "" "TGFB2(NM_001135599.4):c.673G>T (p.E225*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000717173" "0" "30" "1" "218609319" "218609319" "subst" "0" "02329" "TGFB2_000063" "g.218609319T>C" "" "" "" "TGFB2(NM_001135599.4):c.846T>C (p.D282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799100" "0" "30" "1" "218520315" "218520315" "subst" "0.00397574" "01804" "TGFB2_000031" "g.218520315G>A" "" "" "" "TGFB2(NM_001135599.2):c.272G>A (p.(Arg91His)), TGFB2(NM_001135599.3):c.272G>A (p.R91H), TGFB2(NM_001135599.4):c.272G>A (p.R91H), TGFB2(NM_003238.4)..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000821616" "0" "70" "1" "216240159" "222780953" "del" "0" "00000" "USH2A_000000" "g.216240159_222780953del" "" "{PMID:Turro 2020:32581362}" "" "chr1:g.216240159_222780953del" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "likely pathogenic" "" "0000831715" "1" "70" "1" "218607538" "218607538" "subst" "0" "00006" "TGFB2_000017" "g.218607538G>T" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "NM_001135599.2:c.709G>T" "" "Germline" "" "" "0" "" "" "g.218434196G>T" "" "likely pathogenic" "" "0000831716" "1" "90" "1" "218609452" "218609452" "subst" "0" "00006" "TGFB2_000022" "g.218609452C>T" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "NM_001135599.2:c.979C>T" "" "Germline" "" "" "0" "" "" "g.218436110C>T" "" "pathogenic" "" "0000831717" "1" "70" "1" "218609462" "218609462" "subst" "0" "00006" "TGFB2_000044" "g.218609462G>A" "9/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "NM_001135599.2:c.989G>A" "incomplete penetrance?" "Germline" "" "" "0" "" "" "g.218436120G>A" "" "likely pathogenic (!)" "" "0000831718" "0" "70" "1" "218610684" "218610684" "subst" "0" "00006" "TGFB2_000024" "g.218610684G>T" "2/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "NM_001135599.2:c.1017-1G>T" "" "De novo" "" "" "0" "" "" "g.218437342G>T" "" "likely pathogenic" "" "0000831729" "0" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "del ex4-7" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000831911" "1" "70" "1" "218520279" "218520279" "subst" "0" "00006" "TGFB2_000065" "g.218520279A>T" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PP2, PP1, PP4" "SUMMARY record" "" "" "0" "" "" "g.218346937A>T" "" "likely pathogenic" "ACMG" "0000831912" "1" "50" "1" "218520287" "218520287" "subst" "4.10071E-6" "00006" "TGFB2_000066" "g.218520287G>T" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PP3, PP2, PP4" "SUMMARY record" "" "" "0" "" "" "g.218346945G>T" "" "VUS" "ACMG" "0000831913" "1" "90" "1" "218520317" "218520317" "subst" "0" "00006" "TGFB2_000067" "g.218520317G>T" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PVS1, PP1" "SUMMARY record" "" "" "0" "" "" "g.218346975G>T" "" "pathogenic" "ACMG" "0000831914" "1" "70" "1" "218520337" "218520351" "del" "0" "00006" "TGFB2_000068" "g.218520337_218520351del" "" "{PMID:Schepers 2018:29392890}" "" "c.294_308delCTACGCCAAGGAGGT" "ACMG PM2, PP3, PM4, PP1, PP4" "SUMMARY record" "" "" "0" "" "" "g.218346995_218347009del" "" "likely pathogenic" "ACMG" "0000831915" "1" "90" "1" "218520340" "218520340" "subst" "0" "00006" "TGFB2_000069" "g.218520340C>A" "" "{PMID:Schepers 2018:29392890}" "" "c.297>A" "ACMG PM2, PVS1, PP3, PP1, PP4" "SUMMARY record" "" "" "0" "" "" "g.218346998C>A" "" "pathogenic" "ACMG" "0000831916" "1" "90" "1" "218520347" "218520347" "subst" "0" "00006" "TGFB2_000070" "g.218520347G>T" "" "{PMID:Schepers 2018:29392890}" "" "" "ACMG PM2, PVS1, PP3, PP1, PP4" "SUMMARY record" "" "" "0" "" "" "g.218347005G>T" "" "pathogenic" "ACMG" "0000831917" "1" "70" "1" "218520348" "218520350" "del" "0" "00006" "TGFB2_000071" "g.218520348_218520350del" "" "{PMID:Schepers 2018:29392890}" "" "c.305_307delAGG" "ACMG PM2, PM4, PP3, PP1, PP4" "SUMMARY record" "" "" "0" "" "" "g.218347006_218347008del" "" "likely pathogenic" "ACMG" "0000831918" "1" "90" "1" "218578555" "218578555" "subst" "0" "00006" "TGFB2_000072" "g.218578555C>T" "" "{PMID:Schepers 2018:29392890}" "" "NM_001135599.2:c.475C>T" "ACMG PM2, PVS1, PS1, PP3, PP4" "SUMMARY record" "" "" "0" "" "" "g.218405213C>T" "" "pathogenic" "ACMG" "0000831919" "1" "90" "1" "218578598" "218578598" "dup" "0" "00006" "TGFB2_000073" "g.218578598dup" "" "{PMID:Schepers 2018:29392890}" "" "NM_001135599.2:c.518_519insT" "ACMG PM2, PVS1, PP3, PP4" "SUMMARY record" "" "" "0" "" "" "g.218405256dup" "" "pathogenic" "ACMG" "0000831920" "1" "70" "1" "218578657" "218578657" "subst" "4.06299E-6" "00006" "TGFB2_000074" "g.218578657C>T" "" "{PMID:Schepers 2018:29392890}" "" "NM_001135599.2:c.577C>T" "ACMG PP3, PP2, PP1-S, PP4" "SUMMARY record" "" "" "0" "" "" "g.218405315C>T" "" "likely pathogenic" "ACMG" "0000831921" "1" "90" "1" "218607502" "218607502" "subst" "0" "00006" "TGFB2_000062" "g.218607502G>T" "" "{PMID:Schepers 2018:29392890}" "" "NM_001135599.2:c.673G>T" "ACMG PM2, PVS1, PP3, PP4" "SUMMARY record" "" "" "0" "" "" "g.218434160G>T" "" "pathogenic" "ACMG" "0000831922" "1" "90" "1" "218607723" "218607723" "subst" "0" "00006" "TGFB2_000075" "g.218607723C>A" "" "{PMID:Schepers 2018:29392890}" "" "NM_001135599.2:c.687C>A" "ACMG PM2, PVS1, PP3, PP1, PP4" "SUMMARY record" "" "" "0" "" "" "g.218434381C>A" "" "pathogenic" "ACMG" "0000831923" "1" "90" "1" "218609311" "218609311" "subst" "0" "00006" "TGFB2_000076" "g.218609311G>A" "" "{PMID:Schepers 2018:29392890}" "" "NM_001135599.2:c.839-1G>A" "ACMG PM2, PVS1, PP3, PP1, PP4" "SUMMARY record" "" "" "0" "" "" "g.218435969G>A" "" "pathogenic" "ACMG" "0000831924" "1" "90" "1" "218609430" "218609445" "dup" "0" "00006" "TGFB2_000077" "g.218609430_218609445dup" "" "{PMID:Schepers 2018:29392890}" "" "NM_001135599.2:c.873_888dup" "ACMG PM2, PVS1, PP3, PP1, PP4" "SUMMARY record" "" "" "0" "" "" "g.218436088_218436103dup" "" "pathogenic" "ACMG" "0000831925" "1" "90" "1" "218609452" "218609452" "subst" "0" "00006" "TGFB2_000022" "g.218609452C>T" "" "{PMID:Schepers 2018:29392890}" "" "NM_001135599.2:c.979C>T" "ACMG PM2, PS1, PM5, PP3, PM1, PP1-S" "SUMMARY record" "" "" "0" "" "" "g.218436110C>T" "" "pathogenic" "ACMG" "0000831926" "1" "90" "1" "218609453" "218609453" "subst" "0" "00006" "TGFB2_000055" "g.218609453G>A" "" "{PMID:Schepers 2018:29392890}" "" "NM_001135599.2:c.980G>A" "ACMG PM2, PS1, PM5, PP3, PM1, PP1" "SUMMARY record" "" "" "0" "" "" "g.218436111G>A" "" "pathogenic" "ACMG" "0000831927" "1" "90" "1" "218609461" "218609461" "subst" "0" "00006" "TGFB2_000060" "g.218609461C>T" "" "{PMID:Schepers 2018:29392890}" "" "NM_001135599.2:c.988C>T" "ACMG PM2, PS1, PP3, PM1, PP1" "SUMMARY record" "" "" "0" "" "" "g.218436119C>T" "" "pathogenic" "ACMG" "0000831928" "1" "90" "1" "218609473" "218609473" "del" "0" "00006" "TGFB2_000078" "g.218609473del" "" "{PMID:Schepers 2018:29392890}" "" "NM_001135599.2:c.1000delG" "ACMG PM2, PVS1, PP3" "SUMMARY record" "" "" "0" "" "" "g.218436131del" "" "pathogenic" "ACMG" "0000831929" "1" "90" "1" "218610774" "218610778" "del" "0" "00006" "TGFB2_000081" "g.218610774_218610778del" "" "{PMID:Schepers 2018:29392890}" "" "NM_001135599.2:c.1021_1025delTACAA" "ACMG PM2, PVS1, PP3, PP1" "SUMMARY record" "" "" "0" "" "" "g.218437432_218437436del" "" "pathogenic" "ACMG" "0000831930" "1" "70" "1" "218610710" "218610710" "subst" "0" "00006" "TGFB2_000079" "g.218610710C>T" "" "{PMID:Schepers 2018:29392890}" "" "NM_001135599.2:c.1042C>T" "ACMG PM2, PP3, PP2, PP1-M" "SUMMARY record" "" "" "0" "" "" "g.218437368C>T" "" "likely pathogenic" "ACMG" "0000831931" "1" "70" "1" "218610765" "218610765" "subst" "0" "00006" "TGFB2_000080" "g.218610765C>A" "" "{PMID:Schepers 2018:29392890}" "" "NM_001135599.2:c.1097C>A" "ACMG PM2, PP3, PP2, PP1-M" "SUMMARY record" "" "" "0" "" "" "g.218437423C>A" "" "likely pathogenic" "ACMG" "0000831932" "1" "90" "1" "218610774" "218610778" "del" "0" "00006" "TGFB2_000081" "g.218610774_218610778del" "" "{PMID:Schepers 2018:29392890}" "" "NM_001135599.2:c.1106_1110delACAAT" "ACMG PM2, PVS1, PP3, PP1-S" "SUMMARY record" "" "" "0" "" "" "g.218437432_218437436del" "" "pathogenic" "ACMG" "0000831933" "1" "90" "1" "218610793" "218610793" "del" "0" "00006" "TGFB2_000082" "g.218610793del" "" "{PMID:Schepers 2018:29392890}" "" "NM_001135599.2:c.1125delT" "ACMG PM2, PVS1, PP3" "SUMMARY record" "" "" "0" "" "" "g.218437451del" "" "pathogenic" "ACMG" "0000831934" "1" "90" "1" "218610833" "218610833" "dup" "0" "00006" "TGFB2_000001" "g.218610833dup" "" "{PMID:Schepers 2018:29392890}" "" "NM_001135599.2:c.1165dupA" "ACMG PM2, PVS1, PP3, PP1-M" "SUMMARY record" "" "" "0" "" "" "g.218437491dup" "" "pathogenic" "ACMG" "0000831935" "1" "90" "1" "218610839" "218610839" "subst" "0" "00006" "TGFB2_000083" "g.218610839G>A" "" "{PMID:Schepers 2018:29392890}" "" "NM_001135599.2:c.1170+1G>A" "ACMG PM2, PVS1, PP3, PP1" "SUMMARY record" "" "" "0" "" "" "g.218437497G>A" "" "pathogenic" "ACMG" "0000831936" "1" "50" "1" "218614609" "218614609" "subst" "0" "00006" "TGFB2_000084" "g.218614609G>C" "" "{PMID:Schepers 2018:29392890}" "" "NM_001135599.2:c.1234G>C" "ACMG PM2, PP3, PP2, PP4" "SUMMARY record" "" "" "0" "" "" "g.218441267G>C" "" "VUS" "ACMG" "0000831937" "1" "90" "1" "218518723" "218617961" "del" "0" "00006" "TGFB2_000064" "g.(?_218518723)_(218617961_?)del" "" "{PMID:Schepers 2018:29392890}" "" "del entire gene" "ACMG PM2, PVS1, PS2" "SUMMARY record" "" "" "0" "" "" "g.(?_218345381)_(218444619_?)del" "" "pathogenic" "ACMG" "0000832105" "0" "90" "1" "214271966" "219506825" "del" "0" "00006" "TGFB2_000085" "g.(?_214271966)_(219506825_?)del" "" "{PMID:Fontana 2014:24440784}" "" "hg18 (212338589-217573448)x1" "" "De novo" "" "" "0" "" "" "g.(?_214098624)_(219333483_?)del" "" "pathogenic" "" "0000832159" "11" "70" "1" "218609452" "218609452" "subst" "0" "00006" "TGFB2_000022" "g.218609452C>T" "" "{PMID:Schubert 2016:26854089}" "" "979C>T (Arg327Trp)" "" "Germline" "" "" "0" "" "" "g.218436110C>T" "" "likely pathogenic" "" "0000832172" "0" "90" "1" "218578555" "218578555" "subst" "0" "00006" "TGFB2_000072" "g.218578555C>T" "" "{PMID:Renard 2013:23102774}" "" "475C>T (Arg159X)" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000832173" "0" "90" "1" "218578555" "218578555" "subst" "0" "00006" "TGFB2_000072" "g.218578555C>T" "" "{PMID:Renard 2013:23102774}" "" "475C>T (Arg159X)" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000832174" "0" "90" "1" "218609452" "218609452" "subst" "0" "00006" "TGFB2_000022" "g.218609452C>T" "" "{PMID:Renard 2013:23102774}" "" "979C>T (Arg327Trp)" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000832175" "0" "90" "1" "218609452" "218609452" "subst" "0" "00006" "TGFB2_000022" "g.218609452C>T" "" "{PMID:Renard 2013:23102774}" "" "979C>T (Arg327Trp)" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000832176" "0" "90" "1" "218609453" "218609453" "subst" "0" "00006" "TGFB2_000055" "g.218609453G>A" "" "{PMID:Renard 2013:23102774}" "" "980G>A (Arg327Gln)" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000832177" "0" "90" "1" "218610793" "218610793" "del" "0" "00006" "TGFB2_000082" "g.218610793del" "" "{PMID:Renard 2013:23102774}" "" "1125delT" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000848535" "0" "30" "1" "218530340" "218530340" "subst" "0" "02329" "TGFB2_000086" "g.218530340G>A" "" "" "" "TGFB2(NM_001135599.4):c.347-6336G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848536" "0" "10" "1" "218594730" "218594730" "dup" "0" "02329" "TGFB2_000087" "g.218594730dup" "" "" "" "TGFB2(NM_001135599.4):c.595-12694dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857284" "0" "50" "1" "218610765" "218610765" "subst" "0" "02325" "TGFB2_000088" "g.218610765C>T" "" "" "" "TGFB2(NM_003238.6):c.1013C>T (p.P338L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857285" "0" "30" "1" "218614698" "218614698" "subst" "0.000702815" "01804" "TGFB2_000027" "g.218614698C>T" "" "" "" "TGFB2(NM_001135599.2):c.1323C>T (p.(Cys441=)), TGFB2(NM_001135599.3):c.1323C>T (p.C441=), TGFB2(NM_003238.4):c.1239C>T (p.C413=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000880033" "0" "70" "1" "218609462" "218609462" "subst" "0" "00006" "TGFB2_000044" "g.218609462G>A" "" "{PMID:Almpani 2022:34916229}" "" "NM_001135599.2:c.989G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.218436120G>A" "" "likely pathogenic" "" "0000880034" "0" "90" "1" "218610771" "218610771" "subst" "4.07219E-6" "00006" "TGFB2_000089" "g.218610771G>A" "" "{PMID:Almpani 2022:34916229}" "" "NM_001135599.2:c.1103G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.218437429G>A" "" "pathogenic" "" "0000880035" "1" "90" "1" "218610771" "218610771" "subst" "4.07219E-6" "00006" "TGFB2_000089" "g.218610771G>A" "" "{PMID:Almpani 2022:34916229}" "" "NM_001135599.2:c.1103G>A" "" "Germline" "yes" "" "0" "" "" "g.218437429G>A" "" "pathogenic" "" "0000880036" "1" "90" "1" "218610771" "218610771" "subst" "4.07219E-6" "00006" "TGFB2_000089" "g.218610771G>A" "" "{PMID:Almpani 2022:34916229}" "" "NM_001135599.2:c.1103G>A" "" "Germline" "yes" "" "0" "" "" "g.218437429G>A" "" "pathogenic" "" "0000880037" "0" "50" "1" "218609461" "218609461" "subst" "0" "00006" "TGFB2_000060" "g.218609461C>T" "" "{PMID:Almpani 2022:34916229}" "" "NM_001135599.2:c.988C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.218436119C>T" "" "VUS" "" "0000880038" "11" "50" "1" "218609461" "218609461" "subst" "0" "00006" "TGFB2_000060" "g.218609461C>T" "" "{PMID:Almpani 2022:34916229}" "" "NM_001135599.2:c.988C>T" "" "Germline" "yes" "" "0" "" "" "g.218436119C>T" "" "VUS" "" "0000880039" "1" "50" "1" "218609461" "218609461" "subst" "0" "00006" "TGFB2_000060" "g.218609461C>T" "" "{PMID:Almpani 2022:34916229}" "" "NM_001135599.2:c.988C>T" "" "Germline" "yes" "" "0" "" "" "g.218436119C>T" "" "VUS" "" "0000881287" "0" "90" "1" "218609469" "218609487" "del" "0" "02300" "TGFB2_000090" "g.218609469_218609487del" "" "{PMID:Marinakis 2021:34008892}" "" "NM_001135599.3:c.996_1014del (Asp333GlufsTer20)" "ACMG PVS1, PM1, PM2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.218436127_218436145del" "" "pathogenic (dominant)" "ACMG" "0000883130" "0" "10" "1" "218520315" "218520315" "subst" "0.00397574" "02326" "TGFB2_000031" "g.218520315G>A" "" "" "" "TGFB2(NM_001135599.2):c.272G>A (p.(Arg91His)), TGFB2(NM_001135599.3):c.272G>A (p.R91H), TGFB2(NM_001135599.4):c.272G>A (p.R91H), TGFB2(NM_003238.4)..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883131" "0" "90" "1" "218607489" "218607490" "del" "0" "02325" "TGFB2_000091" "g.218607489_218607490del" "" "" "" "TGFB2(NM_003238.6):c.576_577delAA (p.R193Sfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883132" "0" "50" "1" "218607539" "218607539" "subst" "0" "02329" "TGFB2_000092" "g.218607539A>G" "" "" "" "TGFB2(NM_001135599.4):c.710A>G (p.E237G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883133" "0" "30" "1" "218609412" "218609412" "subst" "0" "02329" "TGFB2_000093" "g.218609412A>G" "" "" "" "TGFB2(NM_001135599.4):c.939A>G (p.L313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883134" "0" "50" "1" "218609449" "218609449" "subst" "0" "02326" "TGFB2_000094" "g.218609449C>T" "" "" "" "TGFB2(NM_003238.3):c.892C>T (p.(Arg298Trp)), TGFB2(NM_003238.4):c.892C>T (p.R298W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883135" "0" "50" "1" "218609474" "218609474" "subst" "8.29896E-6" "02329" "TGFB2_000095" "g.218609474C>T" "" "" "" "TGFB2(NM_001135599.4):c.1001C>T (p.A334V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883136" "0" "50" "1" "218614598" "218614598" "subst" "0" "02327" "TGFB2_000096" "g.218614598G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883137" "0" "10" "1" "218614698" "218614698" "subst" "0.000702815" "02326" "TGFB2_000027" "g.218614698C>T" "" "" "" "TGFB2(NM_001135599.2):c.1323C>T (p.(Cys441=)), TGFB2(NM_001135599.3):c.1323C>T (p.C441=), TGFB2(NM_003238.4):c.1239C>T (p.C413=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000910943" "0" "30" "1" "218520217" "218520217" "subst" "4.06098E-6" "02329" "TGFB2_000097" "g.218520217T>G" "" "" "" "TGFB2(NM_001135599.4):c.174T>G (p.P58=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000910944" "0" "30" "1" "218520226" "218520226" "subst" "1.21851E-5" "02329" "TGFB2_000098" "g.218520226G>A" "" "" "" "TGFB2(NM_001135599.4):c.183G>A (p.E61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000910945" "0" "90" "1" "218614630" "218614631" "ins" "0" "02329" "TGFB2_000099" "g.218614630_218614631insATTTAGAACC" "" "" "" "TGFB2(NM_001135599.4):c.1255_1256insATTTAGAACC (p.L419Hfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000923076" "0" "90" "1" "218609453" "218609453" "subst" "0" "02329" "TGFB2_000055" "g.218609453G>A" "" "" "" "TGFB2(NM_001135599.3):c.980G>A (p.R327Q), TGFB2(NM_001135599.4):c.980G>A (p.R327Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000947147" "0" "90" "1" "218609462" "218609462" "subst" "0" "02329" "TGFB2_000003" "g.218609462G>C" "" "" "" "TGFB2(NM_001135599.4):c.989G>C (p.R330P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000947148" "0" "50" "1" "218614664" "218614664" "subst" "0" "02329" "TGFB2_000100" "g.218614664A>G" "" "" "" "TGFB2(NM_001135599.4):c.1289A>G (p.Q430R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960819" "0" "30" "1" "218520083" "218520083" "subst" "8.13107E-6" "02329" "TGFB2_000029" "g.218520083C>T" "" "" "" "TGFB2(NM_001135599.3):c.40C>T (p.L14=), TGFB2(NM_001135599.4):c.40C>T (p.L14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960820" "0" "10" "1" "218578521" "218578521" "subst" "0.00095221" "02326" "TGFB2_000101" "g.218578521G>A" "" "" "" "TGFB2(NM_003238.4):c.357G>A (p.P119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000960821" "0" "30" "1" "218609066" "218609066" "subst" "0" "02329" "TGFB2_000102" "g.218609066C>T" "" "" "" "TGFB2(NM_001135599.4):c.839-246C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973628" "0" "50" "1" "218520080" "218520080" "subst" "4.06557E-5" "01804" "TGFB2_000103" "g.218520080C>A" "" "" "" "TGFB2(NM_003238.6):c.37C>A (p.(His13Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973629" "0" "30" "1" "218607858" "218607858" "subst" "0" "02329" "TGFB2_000104" "g.218607858A>C" "" "" "" "TGFB2(NM_001135599.4):c.838+68A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973631" "0" "50" "1" "218610716" "218610716" "subst" "0" "01804" "TGFB2_000106" "g.218610716C>T" "" "" "" "TGFB2(NM_003238.6):c.964C>T (p.(Leu322Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973632" "0" "30" "1" "218614268" "218614268" "subst" "0" "02329" "TGFB2_000107" "g.218614268A>G" "" "" "" "TGFB2(NM_001135599.4):c.1171-278A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990829" "0" "30" "1" "218520509" "218520509" "subst" "0" "02329" "TGFB2_000108" "g.218520509C>A" "" "" "" "TGFB2(NM_001135599.4):c.346+120C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990830" "0" "50" "1" "218578564" "218578564" "subst" "2.43932E-5" "01804" "TGFB2_000109" "g.218578564G>A" "" "" "" "TGFB2(NM_003238.3):c.400G>A (p.(Val134Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990831" "0" "90" "1" "218578627" "218578627" "subst" "0" "02329" "TGFB2_000110" "g.218578627C>T" "" "" "" "TGFB2(NM_001135599.4):c.547C>T (p.Q183*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000990832" "0" "30" "1" "218578703" "218578717" "dup" "0" "02329" "TGFB2_000111" "g.218578703_218578717dup" "" "" "" "TGFB2(NM_001135599.4):c.594+27_594+41dupTTGTTGTTGTTGTTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990833" "0" "30" "1" "218609449" "218609449" "subst" "0" "01804" "TGFB2_000094" "g.218609449C>T" "" "" "" "TGFB2(NM_003238.3):c.892C>T (p.(Arg298Trp)), TGFB2(NM_003238.4):c.892C>T (p.R298W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990834" "0" "30" "1" "218610679" "218610679" "del" "0" "01804" "TGFB2_000023" "g.218610679del" "" "" "" "TGFB2(NM_001135599.3):c.1017-6delT, TGFB2(NM_001135599.4):c.1017-6delT, TGFB2(NM_003238.3):c.933-6delT (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013282" "0" "30" "1" "218520346" "218520346" "subst" "0.000167213" "02329" "TGFB2_000112" "g.218520346G>A" "" "" "" "TGFB2(NM_001135599.4):c.303G>A (p.K101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013283" "0" "30" "1" "218578712" "218578717" "del" "0" "02329" "TGFB2_000013" "g.218578712_218578717del" "" "" "" "TGFB2(NM_001135599.3):c.594+38_594+43delGTTGTT, TGFB2(NM_001135599.4):c.594+38_594+43delGTTGTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001022069" "0" "10" "1" "218607783" "218607783" "subst" "4.90264E-5" "04796" "TGFB2_000042" "g.218607783A>G" "" "" "" "NM_001135599.2:c.831A>G" "no effect on RNA" "Germline/De novo (untested)" "" "" "0" "" "" "g.218434441A>G" "" "benign" "" "0001024109" "0" "30" "1" "218520157" "218520157" "subst" "0.00300921" "01943" "TGFB2_000004" "g.218520157G>A" "" "" "" "TGFB2(NM_001135599.3):c.114G>A (p.E38=), TGFB2(NM_001135599.4):c.114G>A (p.E38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024110" "0" "10" "1" "218578665" "218578665" "subst" "0.00068693" "02329" "TGFB2_000113" "g.218578665G>A" "" "" "" "TGFB2(NM_001135599.4):c.585G>A (p.E195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001031662" "0" "70" "1" "218578634" "218578634" "del" "0" "02325" "TGFB2_000114" "g.218578634del" "" "" "" "TGFB2(NM_003238.6):c.470delC (p.P157Qfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001031663" "0" "50" "1" "218607439" "218607439" "subst" "0" "02329" "TGFB2_000038" "g.218607439G>A" "" "" "" "TGFB2(NM_001135599.3):c.610G>A (p.D204N), TGFB2(NM_001135599.4):c.610G>A (p.D204N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031664" "0" "50" "1" "218609444" "218609444" "subst" "0" "01804" "TGFB2_000115" "g.218609444C>T" "" "" "" "TGFB2(NM_003238.6):c.887C>T (p.(Thr296Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063279" "0" "50" "1" "218580732" "218580732" "subst" "0" "02325" "TGFB2_000116" "g.218580732A>G" "" "" "" "" "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 TGFB2 ## Count = 158 "{{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}}" "0000021240" "00021044" "75" "1081" "0" "1081" "0" "c.1081dup" "r.(?)" "p.(Ser361Lysfs*8)" "6" "0000022960" "00021044" "15" "1284" "0" "1284" "0" "c.*39G>A" "r.(=)" "p.(=)" "7" "0000022961" "00021044" "15" "1284" "0" "1284" "0" "c.*39G>A" "r.(=)" "p.(=)" "7" "0000130269" "00021044" "70" "905" "0" "905" "0" "c.905G>C" "r.(?)" "p.(Arg302Pro)" "" "0000250184" "00021044" "10" "643" "7" "643" "7" "c.643+7A>C" "r.(=)" "p.(=)" "" "0000311810" "00021044" "10" "933" "-6" "933" "-6" "c.933-6del" "r.(=)" "p.(=)" "" "0000313276" "00021044" "90" "933" "-1" "933" "-1" "c.933-1G>T" "r.spl?" "p.?" "" "0000313277" "00021044" "50" "1057" "0" "1057" "0" "c.1057T>G" "r.(?)" "p.(Leu353Val)" "" "0000313278" "00021044" "10" "114" "0" "114" "0" "c.114G>A" "r.(?)" "p.(Glu38=)" "" "0000313283" "00021044" "10" "510" "41" "510" "43" "c.510+41_510+43del" "r.(=)" "p.(=)" "" "0000313285" "00021044" "90" "625" "0" "625" "0" "c.625G>T" "r.(?)" "p.(Glu209Ter)" "" "0000313286" "00021044" "30" "643" "16" "643" "16" "c.643+16C>G" "r.(=)" "p.(=)" "" "0000313287" "00021044" "70" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(Arg299Trp)" "" "0000314502" "00021044" "30" "510" "38" "510" "43" "c.510+38_510+43del" "r.(=)" "p.(=)" "" "0000314505" "00021044" "10" "511" "-127" "511" "-127" "c.511-127C>A" "r.(=)" "p.(=)" "" "0000314506" "00021044" "10" "754" "71" "754" "71" "c.754+71T>C" "r.(=)" "p.(=)" "" "0000316503" "00021044" "10" "933" "-6" "933" "-6" "c.933-6del" "r.(=)" "p.(=)" "" "0000316505" "00021044" "30" "1239" "0" "1239" "0" "c.1239C>T" "r.(?)" "p.(Cys413=)" "" "0000316507" "00021044" "30" "356" "0" "356" "0" "c.356C>T" "r.(?)" "p.(Pro119Leu)" "" "0000316508" "00021044" "30" "406" "0" "406" "0" "c.406G>A" "r.(?)" "p.(Ala136Thr)" "" "0000316509" "00021044" "30" "723" "0" "723" "0" "c.723T>C" "r.(?)" "p.(Asn241=)" "" "0000505409" "00021044" "30" "40" "0" "40" "0" "c.40C>T" "r.(?)" "p.(Leu14=)" "" "0000505410" "00021044" "10" "114" "0" "114" "0" "c.114G>A" "r.(?)" "p.(Glu38=)" "" "0000505411" "00021044" "50" "245" "0" "245" "0" "c.245C>T" "r.(?)" "p.(Ala82Val)" "" "0000505412" "00021044" "50" "272" "0" "272" "0" "c.272G>A" "r.(?)" "p.(Arg91His)" "" "0000505413" "00021044" "10" "272" "0" "272" "0" "c.272G>A" "r.(?)" "p.(Arg91His)" "" "0000505414" "00021044" "90" "286" "0" "292" "0" "c.286_292dup" "r.(?)" "p.(Tyr98Ter)" "" "0000505415" "00021044" "30" "347" "-14" "347" "-14" "c.347-14C>G" "r.(=)" "p.(=)" "" "0000505416" "00021044" "30" "356" "0" "356" "0" "c.356C>T" "r.(?)" "p.(Pro119Leu)" "" "0000505417" "00021044" "10" "510" "32" "510" "43" "c.510+32_510+43dup" "r.(=)" "p.(=)" "" "0000505418" "00021044" "10" "510" "35" "510" "43" "c.510+35_510+43dup" "r.(=)" "p.(=)" "" "0000505419" "00021044" "10" "510" "38" "510" "43" "c.510+38_510+43dup" "r.(=)" "p.(=)" "" "0000505420" "00021044" "10" "510" "38" "510" "43" "c.510+38_510+43dup" "r.(=)" "p.(=)" "" "0000505421" "00021044" "30" "510" "41" "510" "43" "c.510+41_510+43dup" "r.(=)" "p.(=)" "" "0000505422" "00021044" "10" "510" "41" "510" "43" "c.510+41_510+43dup" "r.(=)" "p.(=)" "" "0000505423" "00021044" "50" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Asp176Asn)" "" "0000505424" "00021044" "50" "619" "0" "619" "0" "c.619G>C" "r.(?)" "p.(Val207Leu)" "" "0000505425" "00021044" "30" "619" "0" "619" "0" "c.619G>C" "r.(?)" "p.(Val207Leu)" "" "0000505426" "00021044" "30" "619" "0" "619" "0" "c.619G>C" "r.(?)" "p.(Val207Leu)" "" "0000505427" "00021044" "10" "619" "0" "619" "0" "c.619G>C" "r.(?)" "p.(Val207Leu)" "" "0000505428" "00021044" "30" "624" "0" "624" "0" "c.624T>A" "r.(?)" "p.(His208Gln)" "" "0000505429" "00021044" "30" "644" "-3" "644" "-3" "c.644-3C>T" "r.spl?" "p.?" "" "0000505430" "00021044" "30" "747" "0" "747" "0" "c.747A>G" "r.(?)" "p.(Arg249=)" "" "0000505432" "00021044" "70" "905" "0" "905" "0" "c.905G>A" "r.(?)" "p.(Arg302His)" "" "0000505434" "00021044" "50" "1141" "0" "1141" "0" "c.1141G>A" "r.(?)" "p.(Val381Met)" "" "0000505435" "00021044" "50" "1141" "0" "1141" "0" "c.1141G>A" "r.(?)" "p.(Val381Met)" "" "0000505436" "00021044" "30" "1141" "0" "1141" "0" "c.1141G>A" "r.(?)" "p.(Val381Met)" "" "0000505437" "00021044" "50" "1168" "0" "1168" "0" "c.1168A>G" "r.(?)" "p.(Ile390Val)" "" "0000605187" "00021044" "30" "356" "0" "356" "0" "c.356C>T" "r.(?)" "p.(Pro119Leu)" "" "0000605188" "00021044" "30" "894" "0" "894" "0" "c.894G>A" "r.(?)" "p.(Arg298=)" "" "0000605189" "00021044" "30" "942" "0" "942" "0" "c.942G>A" "r.(?)" "p.(Gln314=)" "" "0000620506" "00021044" "10" "933" "-6" "933" "-6" "c.933-6dup" "r.(=)" "p.(=)" "" "0000643139" "00021044" "50" "1000" "0" "1000" "0" "c.1000T>A" "r.(?)" "p.(Trp334Arg)" "" "0000647575" "00021044" "30" "272" "0" "272" "0" "c.272G>A" "r.(?)" "p.(Arg91His)" "" "0000647576" "00021044" "90" "583" "0" "583" "0" "c.583G>T" "r.(?)" "p.(Glu195*)" "" "0000653217" "00021044" "70" "644" "0" "645" "0" "c.644_645insT" "r.(?)" "p.(Arg216Glnfs*6)" "" "0000653896" "00021044" "30" "643" "7" "643" "7" "c.643+7A>C" "r.(=)" "p.(=)" "" "0000653897" "00021044" "70" "896" "0" "896" "0" "c.896G>A" "r.(?)" "p.(Arg299Gln)" "" "0000653898" "00021044" "30" "932" "260" "932" "260" "c.932+260G>A" "r.(=)" "p.(=)" "" "0000653899" "00021044" "30" "1086" "330" "1086" "330" "c.1086+330T>A" "r.(=)" "p.(=)" "" "0000670372" "00021044" "50" "645" "0" "645" "0" "c.645C>R" "r.(?)" "p.(Asp215Glu)" "" "0000675660" "00021044" "50" "665" "0" "665" "0" "c.665T>C" "r.(?)" "p.(Ile222Thr)" "" "0000675661" "00021044" "70" "904" "0" "904" "0" "c.904C>T" "r.(?)" "p.(Arg302Cys)" "" "0000688024" "00021044" "50" "619" "0" "619" "0" "c.619G>C" "r.(?)" "p.(Val207Leu)" "" "0000688025" "00021044" "30" "643" "40" "643" "40" "c.643+40T>C" "r.(=)" "p.(=)" "" "0000688026" "00021044" "90" "896" "0" "896" "0" "c.896G>A" "r.(?)" "p.(Arg299Gln)" "" "0000717172" "00021044" "90" "589" "0" "589" "0" "c.589G>T" "r.(?)" "p.(Glu197*)" "" "0000717173" "00021044" "30" "762" "0" "762" "0" "c.762T>C" "r.(?)" "p.(Asp254=)" "" "0000799100" "00021044" "30" "272" "0" "272" "0" "c.272G>A" "r.(?)" "p.(Arg91His)" "" "0000821616" "00021044" "70" "-1368" "-2278517" "4502" "4162992" "c.-2279885_*4166249del" "" "" "" "0000831715" "00021044" "70" "625" "0" "625" "0" "c.625G>T" "r.(?)" "p.(Glu209*)" "" "0000831716" "00021044" "90" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(Arg299Trp)" "" "0000831717" "00021044" "70" "905" "0" "905" "0" "c.905G>A" "r.(?)" "p.(Arg302His)" "" "0000831718" "00021044" "70" "933" "-1" "933" "-1" "c.933-1G>T" "r.spl" "p.?" "" "0000831729" "00021044" "90" "595" "-1" "1170" "1" "c.(594+1_595-1)_(1170+1_1171-1)del" "r.(595_1170del)" "p.(Ile199_Arg390del)" "" "0000831911" "00021044" "70" "236" "0" "236" "0" "c.236A>T" "r.(?)" "p.(Gln79Leu)" "" "0000831912" "00021044" "50" "244" "0" "244" "0" "c.244G>T" "r.(?)" "p.(Ala82Ser)" "" "0000831913" "00021044" "90" "274" "0" "274" "0" "c.274G>T" "r.(?)" "p.(Glu92Ter)" "" "0000831914" "00021044" "70" "294" "0" "308" "0" "c.294_308del" "r.(?)" "p.(Ala100_Tyr104del)" "" "0000831915" "00021044" "90" "297" "0" "297" "0" "c.297C>A" "r.(?)" "p.(Tyr99Ter)" "" "0000831916" "00021044" "90" "304" "0" "304" "0" "c.304G>T" "r.(?)" "p.(Glu102Ter)" "" "0000831917" "00021044" "70" "305" "0" "307" "0" "c.305_307del" "r.(?)" "p.(Glu102del)" "" "0000831918" "00021044" "90" "391" "0" "391" "0" "c.391C>T" "r.(?)" "p.(Arg131Ter)" "" "0000831919" "00021044" "90" "434" "0" "434" "0" "c.434dup" "r.(?)" "p.(Lys146GlufsTer18)" "" "0000831920" "00021044" "70" "493" "0" "493" "0" "c.493C>T" "r.(?)" "p.(Arg165Trp)" "" "0000831921" "00021044" "90" "589" "0" "589" "0" "c.589G>T" "r.(?)" "p.(Glu197Ter)" "" "0000831922" "00021044" "90" "687" "0" "687" "0" "c.687C>A" "p.Cys229*" "p.(Cys229*)" "" "0000831923" "00021044" "90" "755" "-1" "755" "-1" "c.755-1G>A" "r.spl" "p.(Gly252Aspfs*42)" "" "0000831924" "00021044" "90" "873" "0" "888" "0" "c.873_888dup" "p.Asn297*" "p.(Asn297Ter)" "" "0000831925" "00021044" "90" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(Arg299Trp)" "" "0000831926" "00021044" "90" "896" "0" "896" "0" "c.896G>A" "r.(?)" "p.(Arg299Gln)" "" "0000831927" "00021044" "90" "904" "0" "904" "0" "c.904C>T" "r.(?)" "p.(Arg302Cys)" "" "0000831928" "00021044" "90" "916" "0" "916" "0" "c.916del" "r.(?)" "p.(Ala306ArgfsTer25)" "" "0000831929" "00021044" "90" "1022" "0" "1026" "0" "c.1022_1026del" "r.(?)" "p.(Tyr341Cysfs*26)" "" "0000831930" "00021044" "70" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320Cys)" "" "0000831931" "00021044" "70" "1013" "0" "1013" "0" "c.1013C>A" "r.(?)" "p.(Pro338His)" "" "0000831932" "00021044" "90" "1022" "0" "1026" "0" "c.1022_1026del" "r.(?)" "p.(Tyr341CysfsTer26)" "" "0000831933" "00021044" "90" "1041" "0" "1041" "0" "c.1041del" "r.(?)" "p.(Gly348GlufsTer17)" "" "0000831934" "00021044" "90" "1081" "0" "1081" "0" "c.1081dup" "r.(?)" "p.(Ser361LysfsTer8)" "" "0000831935" "00021044" "90" "1086" "1" "1086" "1" "c.1086+1G>A" "r.spl" "p.?" "" "0000831936" "00021044" "50" "1150" "0" "1150" "0" "c.1150G>C" "r.(?)" "p.(Asp384His)" "" "0000831937" "00021044" "90" "" "0" "" "0" "c.-1321_*3257{0}" "r.0" "p.0" "" "0000832105" "00021044" "90" "0" "0" "0" "0" "c.-298_*4656{0}" "r.0" "p.0" "_1_9_" "0000832159" "00021044" "70" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(Arg299Trp)" "" "0000832172" "00021044" "90" "391" "0" "391" "0" "c.391C>T" "r.(?)" "p.(Arg131*)" "" "0000832173" "00021044" "90" "391" "0" "391" "0" "c.391C>T" "r.(?)" "p.(Arg131*)" "" "0000832174" "00021044" "90" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(Arg299Trp)" "" "0000832175" "00021044" "90" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(Arg299Trp)" "" "0000832176" "00021044" "90" "896" "0" "896" "0" "c.896G>A" "r.(?)" "p.(Arg299Gln)" "" "0000832177" "00021044" "90" "1041" "0" "1041" "0" "c.1041del" "r.(?)" "p.(Gly348Glufs*17)" "" "0000848535" "00021044" "30" "346" "9951" "346" "9951" "c.346+9951G>A" "r.(=)" "p.(=)" "" "0000848536" "00021044" "10" "511" "-12694" "511" "-12694" "c.511-12694dup" "r.(=)" "p.(=)" "" "0000857284" "00021044" "50" "1013" "0" "1013" "0" "c.1013C>T" "r.(?)" "p.(Pro338Leu)" "" "0000857285" "00021044" "30" "1239" "0" "1239" "0" "c.1239C>T" "r.(?)" "p.(Cys413=)" "" "0000880033" "00021044" "70" "905" "0" "905" "0" "c.905G>A" "r.(?)" "p.(Arg302His)" "" "0000880034" "00021044" "90" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Gly340Glu)" "" "0000880035" "00021044" "90" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Gly340Glu)" "" "0000880036" "00021044" "90" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Gly340Glu)" "" "0000880037" "00021044" "50" "904" "0" "904" "0" "c.904C>T" "r.(?)" "p.(Arg302Cys)" "" "0000880038" "00021044" "50" "904" "0" "904" "0" "c.904C>T" "r.(?)" "p.(Arg302Cys)" "" "0000880039" "00021044" "50" "904" "0" "904" "0" "c.904C>T" "r.(?)" "p.(Arg302Cys)" "" "0000881287" "00021044" "90" "912" "0" "930" "0" "c.912_930del" "r.(?)" "p.(Asp305Glufs*20)" "" "0000883130" "00021044" "10" "272" "0" "272" "0" "c.272G>A" "r.(?)" "p.(Arg91His)" "" "0000883131" "00021044" "90" "576" "0" "577" "0" "c.576_577del" "r.(?)" "p.(Arg193Serfs*12)" "" "0000883132" "00021044" "50" "626" "0" "626" "0" "c.626A>G" "r.(?)" "p.(Glu209Gly)" "" "0000883133" "00021044" "30" "855" "0" "855" "0" "c.855A>G" "r.(?)" "p.(Leu285=)" "" "0000883134" "00021044" "50" "892" "0" "892" "0" "c.892C>T" "r.(?)" "p.(Arg298Trp)" "" "0000883135" "00021044" "50" "917" "0" "917" "0" "c.917C>T" "r.(?)" "p.(Ala306Val)" "" "0000883136" "00021044" "50" "1139" "0" "1139" "0" "c.1139G>A" "r.(?)" "p.(Cys380Tyr)" "" "0000883137" "00021044" "10" "1239" "0" "1239" "0" "c.1239C>T" "r.(?)" "p.(Cys413=)" "" "0000910943" "00021044" "30" "174" "0" "174" "0" "c.174T>G" "r.(?)" "p.(Pro58=)" "" "0000910944" "00021044" "30" "183" "0" "183" "0" "c.183G>A" "r.(?)" "p.(Glu61=)" "" "0000910945" "00021044" "90" "1171" "0" "1172" "0" "c.1171_1172insATTTAGAACC" "r.(?)" "p.(Leu391Hisfs*14)" "" "0000923076" "00021044" "90" "896" "0" "896" "0" "c.896G>A" "r.(?)" "p.(Arg299Gln)" "" "0000947147" "00021044" "90" "905" "0" "905" "0" "c.905G>C" "r.(?)" "p.(Arg302Pro)" "" "0000947148" "00021044" "50" "1205" "0" "1205" "0" "c.1205A>G" "r.(?)" "p.(Gln402Arg)" "" "0000960819" "00021044" "30" "40" "0" "40" "0" "c.40C>T" "r.(?)" "p.(Leu14=)" "" "0000960820" "00021044" "10" "357" "0" "357" "0" "c.357G>A" "r.(?)" "p.(=)" "" "0000960821" "00021044" "30" "755" "-246" "755" "-246" "c.755-246C>T" "r.(=)" "p.(=)" "" "0000973628" "00021044" "50" "37" "0" "37" "0" "c.37C>A" "r.(?)" "p.(His13Asn)" "" "0000973629" "00021044" "30" "754" "68" "754" "68" "c.754+68A>C" "r.(=)" "p.(=)" "" "0000973631" "00021044" "50" "964" "0" "964" "0" "c.964C>T" "r.(?)" "p.(Leu322Phe)" "" "0000973632" "00021044" "30" "1087" "-278" "1087" "-278" "c.1087-278A>G" "r.(=)" "p.(=)" "" "0000990829" "00021044" "30" "346" "120" "346" "120" "c.346+120C>A" "r.(=)" "p.(=)" "" "0000990830" "00021044" "50" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Val134Ile)" "" "0000990831" "00021044" "90" "463" "0" "463" "0" "c.463C>T" "r.(?)" "p.(Gln155*)" "" "0000990832" "00021044" "30" "510" "29" "510" "43" "c.510+29_510+43dup" "r.(=)" "p.(=)" "" "0000990833" "00021044" "30" "892" "0" "892" "0" "c.892C>T" "r.(?)" "p.(Arg298Trp)" "" "0000990834" "00021044" "30" "933" "-6" "933" "-6" "c.933-6del" "r.(=)" "p.(=)" "" "0001013282" "00021044" "30" "303" "0" "303" "0" "c.303G>A" "r.(?)" "p.(=)" "" "0001013283" "00021044" "30" "510" "38" "510" "43" "c.510+38_510+43del" "r.(=)" "p.(=)" "" "0001022069" "00021044" "10" "747" "0" "747" "0" "c.747A>G" "r.747A>G" "p.Arg249=" "4" "0001024109" "00021044" "30" "114" "0" "114" "0" "c.114G>A" "r.(?)" "p.(Glu38=)" "" "0001024110" "00021044" "10" "501" "0" "501" "0" "c.501G>A" "r.(?)" "p.(=)" "" "0001031662" "00021044" "70" "470" "0" "470" "0" "c.470del" "r.(?)" "p.(Pro157Glnfs*21)" "" "0001031663" "00021044" "50" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Asp176Asn)" "" "0001031664" "00021044" "50" "887" "0" "887" "0" "c.887C>T" "r.(?)" "p.(Thr296Ile)" "" "0001063279" "00021044" "50" "510" "2058" "510" "2058" "c.510+2058A>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{variantid}}" "0000002881" "0000021240" "0000004051" "0000022960" "0000004052" "0000022961" "0000081183" "0000130269" "0000287349" "0000643139" "0000290886" "0000647575" "0000290887" "0000647576" "0000296528" "0000653217" "0000306681" "0000670372" "0000391668" "0000821616" "0000399354" "0000831715" "0000399355" "0000831716" "0000399356" "0000831717" "0000399357" "0000831718" "0000399368" "0000831729" "0000399554" "0000832105" "0000399579" "0000832159" "0000399590" "0000832172" "0000399591" "0000832173" "0000399592" "0000832174" "0000399593" "0000832175" "0000399594" "0000832176" "0000399595" "0000832177" "0000419861" "0000880033" "0000419862" "0000880034" "0000419863" "0000880035" "0000419864" "0000880036" "0000419865" "0000880037" "0000419866" "0000880038" "0000419867" "0000880039" "0000420928" "0000881287" "0000462542" "0001022069"