### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TAB2) # 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}}" "TAB2" "TGF-beta activated kinase 1/MAP3K7 binding protein 2" "6" "q25.1" "unknown" "NG_021386.2" "UD_132085433504" "" "https://www.LOVD.nl/TAB2" "" "1" "17075" "23118" "605101" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/TAB2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2021-05-05 07:55:31" "00000" "2026-01-20 18:57:21" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000740" "TAB2" "TGF-beta activated kinase 1/MAP3K7 binding protein 2" "001" "NM_015093.4" "" "NP_055908.1" "" "" "" "-421" "3974" "2082" "149639436" "149732747" "00000" "2012-09-13 12:50:44" "" "" "00025641" "TAB2" "transcript variant 3" "000" "NM_001292034.2" "" "NP_001278963.1" "" "" "" "-178" "3993" "2082" "149639063" "149732749" "00006" "2021-10-11 11:14:34" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00383" "NS" "Noonan syndrome (NS)" "" "" "" "autosomal dominant" "" "00008" "2014-05-14 14:26:30" "00006" "2021-12-10 21:51:32" "00390" "HLHS1" "heart, hypoplastic left, syndrome (HLHS)" "AR" "241550" "" "" "" "00006" "2014-05-30 09:00:53" "00006" "2021-12-10 21:51:32" "00782" "FMD1" "dysplasia, frontometaphyseal (FMD1)" "XLR" "305620" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-04-03 16:49:54" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03803" "CHTD2" "heart defects, congenital, nonsyndromic, type 2 (CHTD2" "AD" "614980" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-05-05 07:55:12" "04204" "ASD" "septal defect, atrial (ASD)" "" "" "" "" "" "00006" "2015-02-20 21:20:25" "00006" "2015-12-08 23:53:05" "05339" "CHTD" "disease, heart, congenital (CHTD)" "" "" "" "" "" "00006" "2017-11-05 11:35:27" "" "" "05467" "Behcet" "Behcet syndrome" "" "109650" "" "" "" "00006" "2018-08-22 09:45:03" "00006" "2021-12-10 21:51:32" "05505" "ASD1" "septal defect, atrial, type 1, primum type (ASD1)" "AD" "108800" "" "" "" "00001" "2018-11-08 16:10:34" "00006" "2021-12-10 21:51:32" "05810" "cutis laxa" "cutis laxa" "" "" "" "" "" "00006" "2020-08-08 21:29:17" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TAB2" "03803" "TAB2" "05339" ## Individuals ## Do not remove or alter this header ## ## Count = 56 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00078598" "" "" "" "1" "" "01604" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "F" "" "Australia" "" "0" "" "" "European" "27426733-Pat17" "00180490" "" "" "" "113" "" "02555" "{PMID:Kijlstra 2008:18657476}" "Chinese cohort" "F;M" "" "China" "" "0" "{DB:Uveo2547?snp=rs237024&t=1535361027}" "" "Chinese" "" "00204775" "" "" "" "1" "" "00000" "{PMID:Thienpont 2010:20493459}" "" "F" "" "" "61y" "0" "" "" "" "PatL" "00204776" "" "" "" "1" "" "00000" "{PMID:Thienpont 2010:20493459}" "" "M" "" "" "" "0" "" "" "" "PatM" "00235348" "" "" "" "3" "" "02544" "{PMID:Morlino 2019:31250519}, {PMID:Ritelli 2018:28386937}" "2-generation family, 3 affected individuals" "F" "no" "Italy" "" "0" "" "" "white" "" "00300268" "" "" "" "4" "" "01195" "{PMID:Liu 2020:33131162}, {DOI:Liu 2020:10.1002/humu.24132}" "" "F" "no" "France" "00y" "0" "" "" "" "Pt5521" "00300269" "" "" "00300268" "2" "" "01195" "{PMID:Liu 2020:33131162}, {DOI:Liu 2020:10.1002/humu.24132}" "" "F" "no" "France" ">42y" "0" "" "" "" "Pt5519" "00300270" "" "" "00300268" "3" "" "01195" "{PMID:Liu 2020:33131162}, {DOI:Liu 2020:10.1002/humu.24132}" "" "F" "no" "France" ">18y" "0" "" "" "" "Pt5518" "00300271" "" "" "00300268" "3" "" "01195" "{PMID:Liu 2020:33131162}, {DOI:Liu 2020:10.1002/humu.24132}" "" "F" "no" "France" ">16y" "0" "" "" "" "Pt5519" "00320149" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00372043" "" "" "" "1" "" "04061" "{DOI:Engwerda 2021:10.1038/s41431-021-00948-0}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Netherlands" "" "0" "" "" "" "PatA1" "00372044" "" "" "" "1" "" "04061" "{DOI:Engwerda 2021:10.1038/s41431-021-00948-0}" "2-generation family, 1 affected, unaffected parents" "M" "" "Netherlands" "" "0" "" "" "" "PatB1" "00372045" "" "" "" "3" "" "04061" "{DOI:Engwerda 2021:10.1038/s41431-021-00948-0}" "2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents" "F" "" "Netherlands" "" "0" "" "" "" "PatC1" "00372046" "" "" "00372045" "1" "" "04061" "{DOI:Engwerda 2021:10.1038/s41431-021-00948-0}" "son" "M" "" "Netherlands" "" "0" "" "" "" "PatC2" "00372047" "" "" "00372045" "1" "" "04061" "{DOI:Engwerda 2021:10.1038/s41431-021-00948-0}" "daughter" "F" "" "Netherlands" "" "0" "" "" "" "PatC3" "00372048" "" "" "" "6" "" "04061" "{DOI:Engwerda 2021:10.1038/s41431-021-00948-0}" "family, 6 affected (4F, 2M), unaffected heterozygous carrier parents" "F" "" "Netherlands" "46y" "0" "" "" "" "PatD1" "00372049" "" "" "00372048" "1" "" "04061" "{DOI:Engwerda 2021:10.1038/s41431-021-00948-0}" "" "M" "" "Netherlands" "" "0" "" "" "" "PatD2" "00372050" "" "" "00372048" "1" "" "04061" "{DOI:Engwerda 2021:10.1038/s41431-021-00948-0}" "" "F" "" "Netherlands" "" "0" "" "" "" "PatD3" "00372051" "" "" "00372048" "1" "" "04061" "{DOI:Engwerda 2021:10.1038/s41431-021-00948-0}" "" "F" "" "Netherlands" "" "0" "" "" "" "PatD4" "00372052" "" "" "00372048" "1" "" "04061" "{DOI:Engwerda 2021:10.1038/s41431-021-00948-0}" "" "F" "" "Netherlands" "" "0" "" "" "" "PatD5" "00372053" "" "" "00372048" "1" "" "04061" "{DOI:Engwerda 2021:10.1038/s41431-021-00948-0}" "" "M" "" "Netherlands" "" "0" "" "" "" "PatD6" "00372054" "" "" "" "2" "" "04061" "{DOI:Engwerda 2021:10.1038/s41431-021-00948-0}" "2-generation family, affected mother/son, unaffected heterozygous carrier parents" "F" "" "Netherlands" "" "0" "" "" "" "PatE1" "00372055" "" "" "00372054" "1" "" "04061" "{DOI:Engwerda 2021:10.1038/s41431-021-00948-0}" "son" "M" "" "Netherlands" "" "0" "" "" "" "PatE2" "00372056" "" "" "" "1" "" "04061" "{DOI:Engwerda 2021:10.1038/s41431-021-00948-0}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Netherlands" "" "0" "" "" "" "PatF1" "00377278" "" "" "" "1" "" "02120" "" "" "F" "no" "(Switzerland)" ">05y" "" "" "" "central european, white" "P I8" "00377280" "" "" "" "1" "" "02120" "" "" "F" "no" "Switzerland" ">13y" "" "" "" "central european, white" "P I9" "00377282" "" "" "" "1" "" "00735" "" "" "F" "no" "" "" "0" "" "" "" "" "00377292" "" "" "" "1" "" "02544" "" "" "M" "no" "Italy" "" "" "" "" "" "I2" "00377293" "" "" "" "1" "" "02544" "" "" "F" "no" "Italy" "" "" "" "" "" "IIII" "00377296" "" "" "" "1" "" "02261" "" "" "M" "no" "Belgium" "" "" "" "" "whitet" "" "00377300" "" "" "" "1" "" "02544" "" "" "" "" "Italy" "" "" "" "" "" "I10" "00377319" "" "" "" "1" "" "04125" "" "" "F" "no" "Finland" "" "0" "" "" "" "patient" "00385427" "" "" "" "3" "" "00006" "{PMID:Weiss 2015:26139517}" "3-generation family, 3 affected (3F)" "F" "" "United States" "" "0" "" "" "" "FamPatIII1" "00385428" "" "" "00385427" "1" "" "00006" "{PMID:Weiss 2015:26139517}" "mother" "F" "" "United States" "" "0" "" "" "" "FamPatII3" "00385429" "" "" "00385427" "1" "" "00006" "{PMID:Weiss 2015:26139517}" "grandmother" "F" "" "United States" "" "0" "" "" "" "FamPatI1" "00385431" "" "" "" "1" "" "00006" "{PMID:Thienpont 2010:20493459}" "4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives" "" "" "" "" "0" "" "" "" "FamA" "00385432" "" "" "" "1" "" "00006" "{PMID:Thienpont 2010:20493459}" "" "" "" "" "" "0" "" "" "" "FamBPatI1" "00385433" "" "" "" "1" "" "00006" "{PMID:Thienpont 2010:20493459}" "" "" "" "" "" "0" "" "" "" "FamCPatI2" "00385434" "" "" "" "1" "" "00006" "{PMID:Thienpont 2010:20493459}" "" "" "" "" "" "0" "" "" "" "FamDPatII" "00385435" "" "" "" "1" "" "00006" "{PMID:Thienpont 2010:20493459}" "" "" "" "" "" "0" "" "" "" "FamEPatIII1" "00385436" "" "" "" "2" "" "00006" "{PMID:Thienpont 2010:20493459}" "2-generation family, affected patient/mother" "" "" "" "" "0" "" "" "" "FamFp" "00385437" "" "" "00385436" "1" "" "00006" "{PMID:Thienpont 2010:20493459}" "mother" "" "" "" "" "0" "" "" "" "FamFm" "00385438" "" "" "" "1" "" "00006" "{PMID:Thienpont 2010:20493459}" "" "" "" "" "" "0" "" "" "" "FamGPatIV" "00385439" "" "" "" "1" "" "00006" "{PMID:Thienpont 2010:20493459}" "" "" "" "" "" "0" "" "" "" "FamHPatV3" "00385440" "" "" "" "1" "" "00006" "{PMID:Thienpont 2010:20493459}" "" "" "" "" "" "0" "" "" "" "FamIPatI3" "00385441" "" "" "" "1" "" "00006" "{PMID:Thienpont 2010:20493459}" "" "" "" "" "" "0" "" "" "" "FamJPatVI" "00385442" "" "" "" "1" "" "00006" "{PMID:Thienpont 2010:20493459}" "" "" "" "" "" "0" "" "" "" "FamKPatV1" "00385443" "" "" "" "3" "" "00006" "{PMID:Thienpont 2010:20493459}" "4-generation family, 3 affected (mother, daughter/son); son" "M" "" "" "" "0" "" "" "" "FamNPatIII2" "00385451" "" "" "" "1" "" "00006" "{PMID:Ackerman 2016:27452334}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "United States" "" "0" "" "" "" "patient" "00385549" "" "" "" "3" "" "00006" "{PMID:Ritelli 2018:28386937}" "3-generation family, 3 affected (2F, M)" "F" "" "Italy" "" "0" "" "" "" "Fam1Pat1" "00385550" "" "" "00385427" "1" "" "00006" "{PMID:Ritelli 2018:28386937}" "" "F" "" "Italy" "" "0" "" "" "" "Fam1Pat2" "00385551" "" "" "00385427" "1" "" "00006" "{PMID:Ritelli 2018:28386937}" "" "M" "" "Italy" "" "0" "" "" "" "Fam1Pat3" "00385552" "" "" "" "1" "" "00006" "{PMID:Ritelli 2018:28386937}" "" "F" "" "Italy" "" "0" "" "" "" "Fam2Pat4" "00385648" "" "" "" "8" "" "00006" "{PMID:Chen 2020:31959127}" "3-generation family, 8 affected (6F, M, fetus)" "F" "" "China" "" "0" "" "" "" "FamPatII5" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 58 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00078598" "00782" "00180490" "05467" "00204775" "00198" "00204776" "00198" "00235348" "00198" "00300268" "00152" "00300268" "00390" "00300269" "04204" "00300270" "04204" "00300271" "05505" "00320149" "00198" "00372043" "05339" "00372044" "05339" "00372045" "05339" "00372046" "05339" "00372047" "05339" "00372048" "05339" "00372049" "05339" "00372050" "05339" "00372051" "05339" "00372052" "05339" "00372053" "05339" "00372054" "05339" "00372055" "05339" "00372056" "05339" "00377278" "03803" "00377280" "03803" "00377282" "05810" "00377292" "00152" "00377293" "00152" "00377296" "03803" "00377300" "00152" "00377319" "05339" "00385427" "05339" "00385428" "05339" "00385429" "05339" "00385431" "00383" "00385431" "05339" "00385432" "05339" "00385433" "05339" "00385434" "05339" "00385435" "05339" "00385436" "05339" "00385437" "05339" "00385438" "00198" "00385439" "00198" "00385440" "00198" "00385441" "00198" "00385442" "00198" "00385443" "05339" "00385451" "05339" "00385549" "05339" "00385550" "05339" "00385551" "05339" "00385552" "05339" "00385648" "05339" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00152, 00198, 00383, 00390, 00782, 01157, 03803, 04204, 05339, 05467, 05505, 05810 ## Count = 53 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000058366" "00782" "00078598" "01604" "Familial, X-linked recessive" "" "supraorbital ridges (HP:?), small chin (HP:0000331), hearing loss (HP:0000365), hypertelorism (HP:0000316), downslanting palpebral fissures (HP:0000494), wide nasal bridge (HP:0000431), no cleft palate (-HP:0000175), no bifid uvula (-HP:0000193), no congenital stridor (-HP:0004886), no subglottic stenosis (-HP:0001607), no hydronephrosis (-HP:0000126), scoliosis (HP:0002650), no intellectual disability (-HP:0001249), no keloid (-HP:0010562), no cervical vertebral fusion (-HP:0002949), elbow contractures (HP:0002987), dislocated radial head (HP:0003083), flared metaphyses (HP:0003015), digital and wrist contractures (HP:0001239), under modeled phalanges (HP:?), broad thumbs (HP:0011304), broad fingers (HP:0001500)" "" "" "" "" "" "" "" "" "" "" "" "0000142885" "05467" "00180490" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" "" "0000153012" "00198" "00204775" "00000" "Unknown" "61y" "61y-deceased; congenital heart defects, left ventricular outflow tract obstruction, subaortic stenosis, residual aortic regurgitation, atrial fibrillation" "" "" "" "" "" "" "" "" "CHDT2" "congenital heart defects" "" "0000153013" "00198" "00204776" "00000" "Unknown" "" "congenital heart defects, bicuspid aortic valve, aortic dilation" "" "" "" "" "" "" "" "" "CHDT2" "congenital heart defects" "" "0000175660" "00198" "00235348" "02544" "Familial, autosomal dominant" "" "generalized joint hypermobility, facial dysmorphism, abnormal skin texture, short limbs, hearing loss, recurrent otitis media, polyvalvular heart dystrophy, progressive mitral valve disease, dilated cardiomyopathy, cardiac arrhythmias and atrial septum aneurysm" "" "" "" "" "" "" "" "" "" "" "" "0000227566" "00390" "00300268" "01195" "Familial, autosomal dominant" "00y" "Hypoplastic mitral valve, hypoplastic left ventricle, hypoplastic aorta\r\nHP:0004383" "00y" "00y" "00y" "" "" "" "" "" "" "" "" "0000227567" "04204" "00300269" "01195" "Familial, autosomal dominant" "" "Atrial Septal Aneurysm, Mitral Valve Prolaps" "" "" "" "" "" "" "" "" "" "" "" "0000227568" "04204" "00300270" "01195" "Familial, autosomal dominant" "" "Atrial Septal Defect, Mitral Valve Prolaps" "" "" "" "" "" "" "" "" "" "" "" "0000227569" "05505" "00300271" "01195" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Atrial Septal Defetc" "" "0000242195" "00198" "00320149" "01807" "Unknown" "" "Microcephaly (HP:0000252); Hearing impairment (HP:0000365); Abnormal heart morphology (HP:0001627); Short stature (HP:0004322); Heart block (HP:0012722)" "" "" "" "" "" "" "" "" "" "" "" "0000267372" "05339" "00372043" "04061" "Isolated (sporadic)" "16y" "small for gestational age unknown (?HP:0001518), Short stature (HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), Hypertelorism (HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), no Ptosis (-HP:0000508), Ears abnormal position (HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), Cafe-au-lait spot (HP:0000957), Abnormal heart morphology (HP:0001627), Bicuspid aortic valve (HP:0001647), Abnormal mitral valve morphology (HP:0001633), Abnormal tricuspid valve morphology (HP:0001702), Thoracic aortic aneurysm (HP:0012727), Cardiomyopathy (HP:0001638), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), no Pectus excavatum (-HP:0000767), Short palm (HP:0004279), Tapered finger (HP:0001182), Sandal gap (HP:0001852), Hypotonia unknown (?HP:0001252), Hearing impairment unknown (?HP:0000365), no Neurodevelopmental delay (-HP:0012758)" "" "" "" "" "" "" "" "" "CHDT2" "congenital heart defect" "" "0000267373" "05339" "00372044" "04061" "Unknown" "15y" "small for gestational age unknown (?HP:0001518), Short stature (HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), no Ears abnormal position (-HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), Thick lower lip vermilion (HP:0000179), Long philtrum (HP:0000343), Abnormal heart morphology (HP:0001627), Atrial septal defect (HP:0001631), Ventricular septal defect (HP:0001629), Cardiomyopathy unknown (?HP:0001638), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), Cryptorchidism (HP:0000028), Feeding difficulties (HP:0011968), Hypermetropia (HP:0000540), Hearing impairment unknown (?HP:0000365), Neurodevelopmental delay (HP:0012758)" "" "" "" "" "" "" "" "" "CHDT2" "congenital heart defect" "" "0000267374" "05339" "00372045" "04061" "Unknown" "36y" "broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), Downslanted palpebral fissures (HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), Abnormal heart morphology (HP:0001627), Mitral regurgitation (HP:0001653), Mitral stenosis (HP:0001718), Hip dysplasia (HP:0001385), no Neurodevelopmental delay (-HP:0012758)" "" "" "" "" "" "" "" "" "CHDT2" "congenital heart defect" "" "0000267375" "05339" "00372046" "04061" "Familial, autosomal dominant" "8y" "not small for gestational age (-HP:0001518), Short stature (HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), Hypertelorism (HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), High palate (HP:0000218), Wide mouth (HP:0000154), Abnormal heart morphology (HP:0001627), Abnormal mitral valve morphology (HP:0001633), Mitral regurgitation (HP:0001653), Mitral valve prolapse (HP:0001634), Thoracic aortic aneurysm (HP:0012727), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), Hip dysplasia (HP:0001385), Cryptorchidism (HP:0000028), Neurodevelopmental delay (HP:0012758)" "" "" "" "" "" "" "" "" "CHDT2" "congenital heart defect" "" "0000267376" "05339" "00372047" "04061" "Familial, autosomal dominant" "5y" "not small for gestational age (-HP:0001518), Short stature (HP:0004322), Disproportionate short-limb short stature (HP:0008873), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), Hypertelorism (HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), Short neck (HP:0000470), Broad neck (HP:0000475), High palate (HP:0000218), Abnormal heart morphology (HP:0001627), Bicuspid aortic valve (HP:0001647), Abnormal mitral valve morphology (HP:0001633), Mitral regurgitation (HP:0001653), Mitral valve prolapse (HP:0001634), Thoracic aortic aneurysm (HP:0012727), no Joint hypermobility (-HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), Hypotonia (HP:0001252), no Neurodevelopmental delay (-HP:0012758)" "" "" "" "" "" "" "" "" "CHDT2" "congenital heart defect" "" "0000267377" "05339" "00372048" "04061" "Unknown" "46y" "46y-deceased (cause unknown); small for gestational age unknown (?HP:0001518), Short stature (HP:0004322), Broad forehead (HP:0000337), Hypertelorism unknown (?HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), Ears abnormal position unknown (?HP:0000357), Short neck unknown (?HP:0000470), Broad neck unknown (?HP:0000475), Abnormal heart morphology (HP:0001627), Aortic regurgitation (HP:0001659), Bicuspid aortic valve (HP:0001647), Pulmonic stenosis (HP:0001642), Arrhythmia (HP:0011675), Atrial flutter (HP:0004749), Hearing impairment (HP:0000365), Neurodevelopmental delay unknown (?HP:0012758)" "" "" "" "" "" "" "" "" "CHDT2" "congenital heart defect" "" "0000267378" "05339" "00372049" "04061" "Familial, autosomal dominant" "37y" "small for gestational age unknown (?HP:0001518), no Short stature (-HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), Downslanted palpebral fissures (HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), High palate (HP:0000218), Micrognathia (HP:0000347), no Abnormal heart morphology (-HP:0001627), no Cardiomyopathy (-HP:0001638), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Hearing impairment (HP:0000365), no Neurodevelopmental delay (-HP:0012758)" "" "" "" "" "" "" "" "" "CHDT2" "congenital heart defect" "" "0000267379" "05339" "00372050" "04061" "Familial, autosomal dominant" "29y" "small for gestational age (HP:0001518), Short stature (HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), Downslanted palpebral fissures (HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), Short neck unknown (?HP:0000470), Broad neck unknown (?HP:0000475), High palate (HP:0000218), Micrognathia (HP:0000347), Abnormal heart morphology (HP:0001627), Atrial septal defect (HP:0001631), Mitral valve prolapse (HP:0001634), Tricuspid valve prolapse (HP:0001704), Cardiomyopathy (HP:0001638), Arrhythmia (HP:0011675), Supraventricular tachycardia (HP:0004755), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Swan neck-like deformities of the fingers (HP:0006150), Hearing impairment (HP:0000365), no Neurodevelopmental delay (-HP:0012758)" "" "" "" "" "" "" "" "" "CHDT2" "congenital heart defect" "" "0000267380" "05339" "00372051" "04061" "Familial, autosomal dominant" "2y" "small for gestational age (HP:0001518), Disproportionate short-limb short stature (HP:0008873), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), Upslanted palpebral fissure (HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), Short neck unknown (?HP:0000470), Broad neck unknown (?HP:0000475), High palate (HP:0000218), Micrognathia (HP:0000347), Abnormal heart morphology (HP:0001627), Pulmonic stenosis (HP:0001642), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), Umbilical hernia (HP:0001537), no Neurodevelopmental delay (-HP:0012758)" "" "" "" "" "" "" "" "" "CHDT2" "congenital heart defect" "" "0000267381" "05339" "00372052" "04061" "Familial, autosomal dominant" "5y" "small for gestational age (HP:0001518), Short stature (HP:0004322), Disproportionate short-limb short stature (HP:0008873), Broad forehead (HP:0000337), Hypertelorism (HP:0000316), Upslanted palpebral fissure (HP:0000582), no Downslanted palpebral fissures (-HP:0000494), no Ptosis (-HP:0000508), no Ears abnormal position (-HP:0000357), Short neck unknown (?HP:0000470), Broad neck unknown (?HP:0000475), Micrognathia (HP:0000347), Abnormal heart morphology (HP:0001627), Aortic regurgitation (HP:0001659), Mitral regurgitation (HP:0001653), Mitral valve prolapse (HP:0001634), Cardiomyopathy (HP:0001638), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), no Hypotonia (-HP:0001252), no Neurodevelopmental delay (-HP:0012758)" "" "" "" "" "" "" "" "" "CHDT2" "congenital heart defect" "" "0000267382" "05339" "00372053" "04061" "Familial, autosomal dominant" "6y" "small for gestational age (HP:0001518), Short stature (HP:0004322), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), Downslanted palpebral fissures (HP:0000494), Ptosis (HP:0000508), no Ears abnormal position (-HP:0000357), Short neck unknown (?HP:0000470), Broad neck unknown (?HP:0000475), Abnormal heart morphology (HP:0001627), Aortic regurgitation (HP:0001659), Mitral regurgitation (HP:0001653), Tricuspid regurgitation (HP:0005180), Tricuspid valve prolapse (HP:0001704), Cardiomyopathy (HP:0001638), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Pectus excavatum (HP:0000767), Umbilical hernia (HP:0001537), Inguinal hernia (HP:0000023), Neurodevelopmental delay (HP:0012758)" "" "" "" "" "" "" "" "" "CHDT2" "congenital heart defect" "" "0000267383" "05339" "00372054" "04061" "Isolated (sporadic)" "35y" "not small for gestational age (-HP:0001518), Short stature (HP:0004322), no Microcephaly (-HP:0000252), no Broad forehead (-HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), Downslanted palpebral fissures (HP:0000494), Ptosis (HP:0000508), no Ears abnormal position (-HP:0000357), Short neck (HP:0000470), Broad neck (HP:0000475), Micrognathia (HP:0000347), Abnormal heart morphology (HP:0001627), Aortic regurgitation (HP:0001659), Abnormal mitral valve morphology (HP:0001633), Mitral regurgitation (HP:0001653), Mitral valve prolapse (HP:0001634), Joint hypermobility (HP:0001382), Brachydactyly (HP:0001156), Lunate-triquetral fusion (HP:0004251), Abnormality of the os naviculare pedis (HP:0100339), Short toe (HP:0001831), Broad hallux (HP:0010055), Hypotonia (HP:0001252), Hearing impairment (HP:0000365), no Neurodevelopmental delay (-HP:0012758)" "" "" "" "" "" "" "" "" "CHDT2" "congenital heart defect" "" "0000267384" "05339" "00372055" "04061" "Familial, autosomal dominant" "6y" "not small for gestational age (-HP:0001518), Short stature (HP:0004322), Disproportionate short-limb short stature (HP:0008873), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), Ptosis (HP:0000508), Ears abnormal position (HP:0000357), Short neck (HP:0000470), Broad neck (HP:0000475), Abnormal heart morphology (HP:0001627), Abnormal mitral valve morphology (HP:0001633), Mitral valve prolapse (HP:0001634), Tricuspid regurgitation (HP:0005180), Tricuspid valve prolapse (HP:0001704), Joint hypermobility (HP:0001382), Pes planus (HP:0001763), Broad foot (HP:0001769), Hypotonia unknown (?HP:0001252), Hearing impairment (HP:0000365), no Neurodevelopmental delay (-HP:0012758)" "" "" "" "" "" "" "" "" "CHDT2" "congenital heart defect" "" "0000267385" "05339" "00372056" "04061" "Isolated (sporadic)" "3y" "not small for gestational age (-HP:0001518), no Short stature (-HP:0004322), no Microcephaly (-HP:0000252), Broad forehead (HP:0000337), no Hypertelorism (-HP:0000316), no Upslanted palpebral fissure (-HP:0000582), no Downslanted palpebral fissures (-HP:0000494), no Ptosis (-HP:0000508), no Ears abnormal position (-HP:0000357), no Short neck (-HP:0000470), no Broad neck (-HP:0000475), Synophrys (HP:0000664), Abnormal heart morphology unknown (?HP:0001627), Cardiomyopathy unknown (?HP:0001638), Arrhythmia unknown (?HP:0011675), Joint hypermobility (HP:0001382), Pes planus unknown (?HP:0001763), Pectus excavatum unknown (?HP:0000767), Feeding difficulties (HP:0011968), no Hypotonia (-HP:0001252), no Hearing impairment (-HP:0000365), Neurodevelopmental delay (HP:0012758)" "" "" "" "" "" "" "" "" "CHDT2" "congenital heart defect" "" "0000272435" "03803" "00377280" "02120" "Unknown" "05y" "cardiovascular anomalies, recurrent facial dysmorphisms, generalized joint hypermobility and soft/velvetyhyperextensible skin" "" "" "" "" "" "" "" "" "TAB2 multisystem disorder with cardiovascular, cutaneous, musculoskeletal and facial involvement" "" "" "0000272444" "00152" "00377292" "02544" "Familial" "" "Facial features (long/round face, wide forehead, maxillary hypoplasia); Cardiovascular Features (Cardiomyopathy, ASD/PFO); Musculoskeletal features; Skin features." "" "" "" "" "" "" "" "" "TAB2 haploinsufficiency" "TAB2 haploinsufficiency" "" "0000272445" "00152" "00377293" "02544" "Familial" "" "Facial features; Cardiovascular Features; Musculoskeletal features; Skin features." "" "" "" "" "" "" "" "" "TAB2 haploinsufficiency" "TAB2 haploinsufficiency" "" "0000272448" "03803" "00377296" "02261" "Unknown" "59y" "cardiomyopathy,dilated\r\naortic dissection type B\r\ninguinal hernia\r\nhypospadias\r\nmulticystic kindney\r\ngastro-intestinal malrotation\r\nconductive hearing loss\r\nshort stature\r\nfacial dysmorphism (ptosis, hypotelorism)\r\nprostate cancer" "" "59y" "" "" "" "" "" "" "" "" "" "0000272452" "00152" "00377300" "02544" "Familial" "" "Facial features; Cardiovascular Features; Musculoskeletal features; Skin features." "" "" "" "" "" "" "" "" "TAB2 haploinsufficiency" "TAB2 haploinsufficiency" "" "0000279222" "05339" "00385427" "00006" "Familial, autosomal dominant" "" "see paper; ..., tetralogy of Fallot, pulmonary atresia, myxomatous and prolapsed mitral and tricuspid valves, supraventricular tachycardia" "" "" "19w fetal acho tetralogy of Fallot" "" "" "" "" "" "" "tetralogy of Fallot" "" "0000279223" "05339" "00385428" "00006" "Familial, autosomal dominant" "" "see paper; ..., icuspid aortic valve, ventricular septal defect, myxomatous and prolapsed mitral, and tricuspid valves" "" "" "" "" "" "" "" "" "" "" "" "0000279224" "05339" "00385429" "00006" "Familial, autosomal dominant" "" "see paper; ..., mitral valve regurgitation, myxomatous and prolapsed mitral and tricuspid valves, SVT, atrial fibrillation" "" "" "" "" "" "" "" "" "" "" "" "0000279238" "05339" "00385443" "00006" "Familial, autosomal dominant" "67y" "aortic stenosis, atrial fibrillation, required an aortic valve replacement" "" "" "" "" "" "" "" "" "" "" "" "0000279246" "05339" "00385451" "00006" "Isolated (sporadic)" "" "see paper; ..., mild pulmonary valve stenosis, mild aortic root dilatation, atrial septal defect, ventricular septal defect, patent ductus arteriosus (closed surgically); polyvalvular syndrome, involvement both semilunar and both atrioventricular valves; hypotonia, myopia, soft pale skin, joint hypermobility, mild facial dysmorphism" "" "" "" "" "" "" "" "" "CHTD2" "" "" "0000279344" "05339" "00385549" "00006" "Familial, autosomal dominant" "48y" "facial dysmorphism; hearing loss/recurrent otitis; heart anomalies; mitral valve dystrophy/insufficiency; tricuspid valve dystrophy/insufficiency.; aortic valve dystrophy/insufficiency; atrial septum aneurysm; dilated cardiomyopathy; arrhythmias; other soft connective tissues; abnormal skin texture; joint hypermobility; habitus/orthopedics; short limbs; lumbar/sacral anomalies; joint contractures/limitations" "" "" "" "" "" "" "" "" "CHTD2" "congenital heart disease" "" "0000279443" "05339" "00385648" "00006" "Familial, autosomal dominant" "31y" "see paper; ..., mild mitral and tricuspid regurgitation, mild aortic valve stenosis with aortic regurgitation" "" "" "" "" "" "" "" "" "" "congenital heart disease" "" "0000279486" "05339" "00385431" "00006" "Isolated (sporadic)" "" "hypoplastic aortic arch, coarctation aorta, ventricular septal defect; mild-moderate developmental dealy; intra‐uterine growth retardation; post‐natal growth retardation; normal central nervous system; normal oral cavity; strabism; hypospadias, epicantic folds, micrognathia, small ears" "" "" "" "" "" "" "" "" "" "congenital heart defect" "" "0000279487" "05339" "00385432" "00006" "Unknown" "" "tricuspid and pulmonic valve dysplasia, mitral valve prolapse, premature ventricular contractions; mild developmental dealy; no microcephaly; intra‐uterine growth retardation; post‐natal growth retardation; normal central nervous system; normal oral cavity; astigmatism; frontal bossing, bitemporal narrowing, palpebral fissures short and slant up, hooded eyelids, sparse eyelashes, infraorbital folds, anteverted nares, thin upper lip, fetal pads (hands), low set dysplastic ears" "" "" "" "" "" "" "" "" "" "congenital heart defect" "" "0000279488" "05339" "00385433" "00006" "Unknown" "" "atrial septal defect typeII; mild developmental dealy; no microcephaly; intra‐uterine growth retardation; post‐natal growth retardation; normal oral cavity; retinal pigment changes, minimal optic nerve hypoplasia; sacral dimple, narrow thorax, frontal bossing, bitemporal narrowing, palpebral fissures short and slant up, sparse eyelashes, infraorbital folds, anteverted nares, thin upper lip, flat long philtrum, low posterior hair line, low set dysplastic ears" "" "" "" "" "" "" "" "" "" "congenital heart defect" "" "0000279489" "05339" "00385434" "00006" "Unknown" "" "tricuspid insufficiency, atrial septal defect, patent ductus arteriosus; mild developmental dealy; no microcephaly; no intra‐uterine growth retardation; post‐natal growth retardation; normal central nervous system; high palate; normal eyes; no hearing loss; facial asymmetry, short palpebral fissures, medial flare eyebrows, anteverted nares, thin upper lip, long and smooth philtrum, sandal gap, cupshaped left ear" "" "" "" "" "" "" "" "" "" "congenital heart defect" "" "0000279490" "05339" "00385435" "00006" "Unknown" "" "ventricular septal defect; mild developmental dealy; no intra‐uterine growth retardation; post‐natal growth retardation; normal oral cavity; short nose, full cheeks, smooth philtrum, thin upper lip, almond eyes, low set protruding ears, dyspl astic left ear" "" "" "" "" "" "" "" "" "" "congenital heart defect" "" "0000279491" "05339" "00385436" "00006" "Familial, autosomal dominant" "" "centrovalvular insufficiency of aortic and pulmonic valve; no developmental dealy; microcephaly; no intra‐uterine growth retardation; post‐natal growth retardation; phimosis; high forehead; almond‐shaped, upslanting palpebral fissures; midface hypoplasia; micrognathia; large, normally placed ears" "" "" "" "" "" "" "" "" "" "congenital heart defect" "" "0000279492" "05339" "00385437" "00006" "Unknown" "" "mild aortic and mitral valve stenosis, sinus tachycardia; no developmental dealy; post‐natal growth retardation; facial features similar to her son" "" "" "" "" "" "" "" "" "" "congenital heart defect" "" "0000279498" "05339" "00385550" "00006" "Familial, autosomal dominant" "28y" "facial dysmorphism; hearing loss/recurrent otitis; heart anomalies; mitral valve dystrophy/insufficiency; tricuspid valve dystrophy/insufficiency.; bicuspid aortic valve; myocardial non-compaction; other soft connective tissues; abnormal skin texture; joint hypermobility; habitus/orthopedics; short stature; small extremities; short limbs; lumbar/sacral anomalies" "" "" "" "" "" "" "" "" "" "congenital heart defect" "" "0000279499" "05339" "00385551" "00006" "Familial, autosomal dominant" "60y" "facial dysmorphism; hearing loss/recurrent otitis; heart anomalies; mitral valve dystrophy/insufficiency; aortic valve dystrophy/insufficiency; aortic root dilatation; dilated cardiomyopathy; arrhythmias; other soft connective tissues; abnormal skin texture; mild joint hypermobility; habitus/orthopedics; short stature; small extremities; short limbs; joint contractures/limitations" "" "" "" "" "" "" "" "" "" "congenital heart defect" "" "0000279500" "05339" "00385552" "00006" "Isolated (sporadic)" "15y" "facial dysmorphism; hearing loss/recurrent otitis; heart anomalies; mitral valve dystrophy/insufficiency; tricuspid valve dystrophy/insufficiency.; aortic valve dystrophy/insufficiency; atrial septum aneurysm; arrhythmias; other soft connective tissues; abnormal skin texture; joint hypermobility; habitus/orthopedics; short stature; short limbs; neurinoma; palmoplantar keratoderma" "" "" "" "" "" "" "" "" "CHTD2;MDM" "congenital heart defect, palmoplantar keratoderma" "" "0000279501" "00198" "00385438" "00006" "Unknown" "" "no cardiac defect; normal central nervous system; cleft lip, cleft palate" "" "" "" "" "" "" "" "" "" "" "" "0000279502" "00198" "00385439" "00006" "Unknown" "" "no cardiac defect; developmental dealy; microcephaly; no intra‐uterine growth retardation; post‐natal growth retardation; agenesis corpus callosum; high palate, bifid uvula; mild conductive hearing loss; midface hypoplasia, clinodactyly 5, plagiocephephaly, low set ears, posteriorly roated ears" "" "" "" "" "" "" "" "" "" "" "" "0000279503" "00198" "00385440" "00006" "Unknown" "" "no cardiac defect; no developmental dealy; no microcephaly; intra‐uterine growth retardation; post‐natal growth retardation; normal central nervous system; normal oral cavity; no hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000279504" "00198" "00385441" "00006" "Unknown" "" "no cardiac defect; mild-moderate developmental dealy; microcephaly; no intra‐uterine growth retardation; post‐natal growth retardation; agenesis corpus callosum; cleft and high palate; nystagmus; dolichocephaly, anteriorly placed anus, low set ears" "" "" "" "" "" "" "" "" "" "" "" "0000279505" "00198" "00385442" "00006" "Unknown" "" "no cardiac defect; developmental dealy; microcephaly; no intra‐uterine growth retardation; no post‐natal growth retardation; normal oral cavity; normal eyes; sensorineural hearing loss; long philtrum, micrognatia, palpebral fissures slant down, epicanthus, low set ears" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 56 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000078782" "00078598" "1" "01604" "01604" "2016-07-21 12:09:05" "" "" "PCRq;SEQ;SEQ-NG-I;Western" "DNA;RNA" "" "" "0000181427" "00180490" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000205804" "00204775" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:26:39" "SEQ" "DNA" "" "" "0000205805" "00204776" "1" "00000" "00115" "2010-07-22 11:56:06" "00115" "2010-08-11 09:26:39" "SEQ" "DNA" "" "" "0000236453" "00235348" "1" "02544" "02544" "2019-05-23 16:32:27" "02544" "2019-05-24 10:11:36" "SEQ-NG" "DNA" "peripheral blood" "" "0000301386" "00300268" "1" "01195" "01195" "2020-04-26 10:45:50" "" "" "SEQ;SEQ-NG-I" "DNA" "Thymus" "" "0000301387" "00300269" "1" "01195" "01195" "2020-04-26 12:18:13" "" "" "SEQ" "DNA" "Blood" "" "0000301388" "00300270" "1" "01195" "01195" "2020-04-26 12:28:57" "" "" "SEQ" "DNA" "Blood" "" "0000301389" "00300271" "1" "01195" "01195" "2020-04-26 12:36:02" "" "" "SEQ" "DNA" "Blood" "" "0000321334" "00320149" "1" "01807" "01807" "2020-11-23 17:38:06" "" "" "SEQ" "DNA" "" "" "0000373270" "00372043" "1" "04061" "04061" "2021-05-06 15:07:19" "" "" "SEQ-NG" "DNA" "" "WES" "0000373271" "00372044" "1" "04061" "04061" "2021-05-06 15:07:19" "" "" "SEQ-NG" "DNA" "" "WES" "0000373272" "00372045" "1" "04061" "04061" "2021-05-06 15:07:19" "" "" "SEQ" "DNA" "" "" "0000373273" "00372046" "1" "04061" "04061" "2021-05-06 15:07:19" "" "" "SEQ" "DNA" "" "" "0000373274" "00372047" "1" "04061" "04061" "2021-05-06 15:07:19" "" "" "SEQ" "DNA" "" "" "0000373275" "00372048" "1" "04061" "04061" "2021-05-06 15:07:19" "" "" "SEQ" "DNA" "" "" "0000373276" "00372049" "1" "04061" "04061" "2021-05-06 15:07:19" "" "" "SEQ" "DNA" "" "" "0000373277" "00372050" "1" "04061" "04061" "2021-05-06 15:07:19" "" "" "SEQ" "DNA" "" "" "0000373278" "00372051" "1" "04061" "04061" "2021-05-06 15:07:19" "" "" "SEQ" "DNA" "" "" "0000373279" "00372052" "1" "04061" "04061" "2021-05-06 15:07:19" "" "" "SEQ" "DNA" "" "" "0000373280" "00372053" "1" "04061" "04061" "2021-05-06 15:07:19" "" "" "SEQ-NG" "DNA" "" "WES" "0000373281" "00372054" "1" "04061" "04061" "2021-05-06 15:07:19" "" "" "SEQ-NG" "DNA" "" "WES" "0000373282" "00372055" "1" "04061" "04061" "2021-05-06 15:07:19" "" "" "SEQ" "DNA" "" "" "0000373283" "00372056" "1" "04061" "04061" "2021-05-06 15:07:19" "" "" "SEQ-NG" "DNA" "" "WES" "0000378482" "00377278" "1" "02120" "02120" "2021-07-16 16:20:52" "" "" "SEQ-NG-I" "DNA" "" "" "0000378483" "00377280" "1" "02120" "02120" "2021-07-16 16:40:19" "" "" "SEQ-NG-I" "DNA" "" "" "0000378484" "00377282" "1" "00735" "00735" "2021-07-16 16:45:37" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000378494" "00377292" "1" "02544" "02544" "2021-07-19 10:25:20" "" "" "SEQ-NG-I" "DNA" "" "" "0000378495" "00377293" "1" "02544" "02544" "2021-07-19 10:55:16" "" "" "SEQ-NG-I" "DNA" "" "" "0000378498" "00377296" "1" "02261" "02261" "2021-07-20 12:16:23" "" "" "SEQ-NG" "DNA" "" "" "0000378502" "00377300" "1" "02544" "02544" "2021-07-21 15:48:06" "" "" "SEQ-NG-I" "DNA" "" "" "0000378522" "00377319" "1" "04125" "04125" "2021-07-22 13:11:43" "" "" "SEQ-NG-I" "DNA" "Blood" "Clinical exome (4400 genes)" "0000386656" "00385427" "1" "00006" "00006" "2021-10-11 11:31:48" "" "" "arrayCGH" "DNA" "" "Infinium CytoSNP-850K beadchip" "0000386657" "00385428" "1" "00006" "00006" "2021-10-11 11:31:48" "" "" "arrayCGH" "DNA" "" "Infinium CytoSNP-850K beadchip" "0000386658" "00385429" "1" "00006" "00006" "2021-10-11 11:31:48" "" "" "arrayCGH" "DNA" "" "Infinium CytoSNP-850K beadchip" "0000386660" "00385431" "1" "00006" "00006" "2021-10-11 14:59:36" "" "" "arrayCGH" "DNA" "" "" "0000386661" "00385432" "1" "00006" "00006" "2021-10-11 14:59:36" "" "" "arrayCGH" "DNA" "" "" "0000386662" "00385433" "1" "00006" "00006" "2021-10-11 14:59:36" "" "" "arrayCGH" "DNA" "" "" "0000386663" "00385434" "1" "00006" "00006" "2021-10-11 14:59:36" "" "" "arrayCGH" "DNA" "" "" "0000386664" "00385435" "1" "00006" "00006" "2021-10-11 14:59:36" "" "" "arrayCGH" "DNA" "" "" "0000386665" "00385436" "1" "00006" "00006" "2021-10-11 14:59:36" "" "" "arrayCGH" "DNA" "" "" "0000386666" "00385437" "1" "00006" "00006" "2021-10-11 14:59:36" "" "" "arrayCGH" "DNA" "" "" "0000386667" "00385438" "1" "00006" "00006" "2021-10-11 14:59:36" "" "" "arrayCGH" "DNA" "" "" "0000386668" "00385439" "1" "00006" "00006" "2021-10-11 14:59:36" "" "" "arrayCGH" "DNA" "" "" "0000386669" "00385440" "1" "00006" "00006" "2021-10-11 14:59:36" "" "" "arrayCGH" "DNA" "" "" "0000386670" "00385441" "1" "00006" "00006" "2021-10-11 14:59:36" "" "" "arrayCGH" "DNA" "" "" "0000386671" "00385442" "1" "00006" "00006" "2021-10-11 14:59:36" "" "" "arrayCGH" "DNA" "" "" "0000386672" "00385443" "1" "00006" "00006" "2021-10-11 15:18:42" "" "" "arrayCGH;FISH" "DNA" "" "" "0000386680" "00385451" "1" "00006" "00006" "2021-10-12 17:12:34" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000386778" "00385549" "1" "00006" "00006" "2021-10-12 19:04:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000386779" "00385550" "1" "00006" "00006" "2021-10-12 19:25:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000386780" "00385551" "1" "00006" "00006" "2021-10-12 19:25:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000386781" "00385552" "1" "00006" "00006" "2021-10-12 19:25:07" "00006" "2021-10-13 12:41:37" "arrayCGH;SEQ-NG" "DNA" "" "WES" "0000386877" "00385648" "1" "00006" "00006" "2021-10-13 12:57:13" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 48 "{{screeningid}}" "{{geneid}}" "0000078782" "TAB2" "0000181427" "SUMO4" "0000205804" "TAB2" "0000205805" "TAB2" "0000236453" "TAB2" "0000301387" "TAB2" "0000301388" "TAB2" "0000301389" "TAB2" "0000373270" "TAB2" "0000373271" "TAB2" "0000373272" "TAB2" "0000373273" "TAB2" "0000373274" "TAB2" "0000373275" "TAB2" "0000373276" "TAB2" "0000373277" "TAB2" "0000373278" "TAB2" "0000373279" "TAB2" "0000373280" "TAB2" "0000373281" "TAB2" "0000373282" "TAB2" "0000373283" "TAB2" "0000378482" "TAB2" "0000378483" "TAB2" "0000378494" "TAB2" "0000378495" "TAB2" "0000378502" "TAB2" "0000386656" "TAB2" "0000386658" "TAB2" "0000386660" "TAB2" "0000386661" "TAB2" "0000386662" "TAB2" "0000386663" "TAB2" "0000386664" "TAB2" "0000386665" "TAB2" "0000386666" "TAB2" "0000386667" "TAB2" "0000386668" "TAB2" "0000386669" "TAB2" "0000386670" "TAB2" "0000386671" "TAB2" "0000386672" "TAB2" "0000386680" "TAB2" "0000386778" "TAB2" "0000386779" "TAB2" "0000386780" "TAB2" "0000386781" "TAB2" "0000386877" "TAB2" ## 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 = 128 "{{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}}" "0000004427" "3" "50" "6" "149721690" "149721690" "subst" "0.552745" "00037" "SUMO4_000002" "g.149721690G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.149400554G>A" "" "VUS" "" "0000004428" "3" "50" "6" "149721965" "149721965" "subst" "0" "00037" "SUMO4_000004" "g.149721965T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.149400829T>C" "" "VUS" "" "0000004429" "3" "50" "6" "149722040" "149722040" "subst" "0" "00037" "TAB2_000003" "g.149722040A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.149400904A>G" "" "VUS" "" "0000004430" "3" "50" "6" "149722189" "149722189" "subst" "0" "00037" "TAB2_000006" "g.149722189A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.149401053A>C" "" "VUS" "" "0000012404" "3" "50" "6" "149678422" "149678422" "subst" "0" "00037" "TAB2_000004" "g.149678422T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.149357286T>C" "" "VUS" "" "0000012405" "3" "50" "6" "149678434" "149678434" "subst" "0" "00037" "TAB2_000005" "g.149678434C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.149357298C>G" "" "VUS" "" "0000012406" "3" "50" "6" "149721690" "149721690" "subst" "0.552745" "00037" "SUMO4_000002" "g.149721690G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.149400554G>A" "" "VUS" "" "0000012407" "3" "50" "6" "149721965" "149721965" "subst" "0" "00037" "SUMO4_000004" "g.149721965T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.149400829T>C" "" "VUS" "" "0000012408" "3" "50" "6" "149722040" "149722040" "subst" "0" "00037" "SUMO4_000001" "g.149722040A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.149400904A>G" "" "VUS" "" "0000012409" "3" "50" "6" "149722189" "149722189" "subst" "0" "00037" "TAB2_000006" "g.149722189A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.149401053A>C" "" "VUS" "" "0000125887" "1" "95" "6" "149718841" "149718841" "subst" "0" "01604" "TAB2_000007" "g.149718841G>A" "" "{PMID:Wade 2016:27426733}, {DOI:Wade 2016:10.1016/j.ajhg.2016.05.024}" "" "" "curator: variant classified as VUS because its contribution to frontometaphyseal dysplasia has not been confirmed" "De novo" "" "" "0" "" "" "g.149397705G>A" "" "pathogenic" "" "0000313223" "0" "70" "6" "149700405" "149700405" "subst" "0" "02329" "TAB2_000008" "g.149700405C>T" "" "" "" "TAB2(NM_015093.6):c.1354C>T (p.R452*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149379269C>T" "" "likely pathogenic" "" "0000344891" "0" "90" "6" "149718755" "149718755" "subst" "0" "02327" "TAB2_000011" "g.149718755A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149397619A>G" "" "pathogenic" "" "0000348920" "0" "90" "6" "149699950" "149699950" "subst" "0" "02327" "TAB2_000010" "g.149699950C>A" "" "" "" "TAB2(NM_015093.6):c.899C>A (p.S300*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149378814C>A" "" "pathogenic" "" "0000405123" "0" "50" "6" "149721965" "149721965" "subst" "0" "02555" "SUMO4_000004" "g.149721965T>C" "113/464 cases" "{PMID:Kijlstra 2008:18657476}" "" "" "{DB:Uveo2547?snp=rs237024&t=1535361027}" "Germline" "" "rs237024" "0" "" "" "g.149400829T>C" "" "VUS" "" "0000435215" "0" "90" "6" "149699673" "149699673" "subst" "8.12651E-6" "00000" "TAB2_000001" "g.149699673C>T" "" "{PMID:Thienpont 2010:20493459}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149378537C>T" "" "pathogenic (dominant)" "" "0000435216" "0" "90" "6" "149699739" "149699739" "subst" "1.62812E-5" "00000" "TAB2_000002" "g.149699739C>A" "" "{PMID:Thienpont 2010:20493459}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149378603C>A" "" "pathogenic (dominant)" "" "0000480167" "0" "90" "6" "149700449" "149700449" "dup" "0" "02544" "TAB2_000012" "g.149700449dup" "" "{PMID:Morlino 2019:31250519}, {PMID:Ritelli 2018:28386937}" "" "" "nonsense-mediated mRNA decay; truncated protein loses ability to bind TAK1, alteration TAK1 autophosphorylation status; patient fibroblasts display ECM disorganization and altered expression of selected ECM components and collagen-related pathways" "Germline" "" "" "0" "" "" "g.149379313dup" "" "pathogenic" "" "0000527424" "0" "50" "6" "149699904" "149699904" "subst" "4.06091E-6" "02325" "TAB2_000013" "g.149699904A>C" "" "" "" "TAB2(NM_015093.6):c.853A>C (p.M285L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149378768A>C" "" "VUS" "" "0000527425" "0" "50" "6" "149700172" "149700172" "dup" "0" "01804" "TAB2_000014" "g.149700172dup" "" "" "" "TAB2(NM_015093.4):c.1121dup (p.(Asn375LysfsTer4))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149379036dup" "" "VUS" "" "0000527426" "0" "10" "6" "149700179" "149700179" "subst" "0.00306223" "01943" "TAB2_000015" "g.149700179G>A" "" "" "" "TAB2(NM_001292034.3):c.1128G>A (p.(Thr376=)), TAB2(NM_015093.5):c.1128G>A (p.T376=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149379043G>A" "" "benign" "" "0000527428" "0" "30" "6" "149700661" "149700661" "subst" "0" "02327" "TAB2_000017" "g.149700661T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149379525T>C" "" "likely benign" "" "0000527429" "0" "10" "6" "149721690" "149721690" "subst" "0.552745" "02325" "SUMO4_000002" "g.149721690G>A" "" "" "" "SUMO4(NM_001002255.2):c.163G>A (p.V55M), TAB2(NM_015093.5):c.1939+1370G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149400554G>A" "" "benign" "" "0000527430" "0" "30" "6" "149721804" "149721804" "subst" "0" "02325" "TAB2_000018" "g.149721804G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149400668G>A" "" "likely benign" "" "0000610078" "0" "70" "6" "149699670" "149699670" "dup" "0" "02327" "TAB2_000019" "g.149699670dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149378534dup" "" "likely pathogenic" "" "0000610079" "0" "70" "6" "149699733" "149699733" "subst" "0" "02327" "TAB2_000020" "g.149699733C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149378597C>T" "" "likely pathogenic" "" "0000610080" "0" "30" "6" "149699825" "149699825" "subst" "0" "02327" "TAB2_000021" "g.149699825T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149378689T>C" "" "likely benign" "" "0000610081" "0" "30" "6" "149700179" "149700179" "subst" "0.00306223" "02327" "TAB2_000015" "g.149700179G>A" "" "" "" "TAB2(NM_001292034.3):c.1128G>A (p.(Thr376=)), TAB2(NM_015093.5):c.1128G>A (p.T376=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149379043G>A" "" "likely benign" "" "0000610082" "0" "30" "6" "149718780" "149718780" "subst" "4.0626E-6" "02327" "TAB2_000022" "g.149718780A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149397644A>G" "" "likely benign" "" "0000610083" "0" "50" "6" "149718863" "149718863" "subst" "4.06544E-6" "01804" "TAB2_000023" "g.149718863G>A" "" "" "" "TAB2(NM_015093.4):c.1727G>A (p.(Arg576His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149397727G>A" "" "VUS" "" "0000610084" "0" "70" "6" "149719195" "149719195" "subst" "0" "02327" "TAB2_000024" "g.149719195C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149398059C>T" "" "likely pathogenic" "" "0000610085" "0" "30" "6" "149721811" "149721811" "subst" "0" "02327" "TAB2_000025" "g.149721811A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149400675A>C" "" "likely benign" "" "0000655500" "0" "70" "6" "149699784" "149699784" "subst" "0" "01804" "TAB2_000026" "g.149699784C>T" "" "" "" "TAB2(NM_015093.4):c.733C>T (p.(Gln245Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149378648C>T" "" "likely pathogenic" "" "0000655501" "0" "30" "6" "149700128" "149700128" "subst" "0.000158374" "01943" "TAB2_000027" "g.149700128C>T" "" "" "" "TAB2(NM_015093.5):c.1077C>T (p.T359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149378992C>T" "" "likely benign" "" "0000655502" "0" "50" "6" "149700178" "149700178" "subst" "1.62443E-5" "01943" "TAB2_000028" "g.149700178C>T" "" "" "" "TAB2(NM_015093.5):c.1127C>T (p.T376M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149379042C>T" "" "VUS" "" "0000655503" "0" "30" "6" "149700206" "149700206" "subst" "1.21832E-5" "01943" "TAB2_000029" "g.149700206T>C" "" "" "" "TAB2(NM_015093.5):c.1155T>C (p.P385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149379070T>C" "" "likely benign" "" "0000664315" "21" "70" "6" "149718772" "149718772" "subst" "0" "01195" "TAB2_000030" "g.149718772C>T" "1/80 patients" "{PMID:Liu 2020:33131162}, {DOI:Liu 2020:10.1002/humu.24132}" "" "" "" "Germline" "yes" "" "" "" "" "g.149397636C>T" "" "pathogenic" "" "0000664317" "0" "70" "6" "149718772" "149718772" "subst" "0" "01195" "TAB2_000030" "g.149718772C>T" "" "{PMID:Liu 2020:33131162}, {DOI:Liu 2020:10.1002/humu.24132}" "" "" "" "De novo" "yes" "" "" "" "" "g.149397636C>T" "" "pathogenic" "" "0000664318" "21" "70" "6" "149718772" "149718772" "subst" "0" "01195" "TAB2_000030" "g.149718772C>T" "" "{PMID:Liu 2020:33131162}, {DOI:Liu 2020:10.1002/humu.24132}" "" "" "" "Germline" "yes" "" "" "" "" "g.149397636C>T" "" "pathogenic" "" "0000664319" "21" "70" "6" "149718772" "149718772" "subst" "0" "01195" "TAB2_000030" "g.149718772C>T" "" "{PMID:Liu 2020:33131162}, {DOI:Liu 2020:10.1002/humu.24132}" "" "" "" "Germline" "yes" "" "" "" "" "g.149397636C>T" "" "pathogenic" "" "0000704163" "0" "90" "6" "149699923" "149699924" "del" "0" "01807" "TAB2_000031" "g.149699923_149699924del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.149378787_149378788del" "" "pathogenic" "" "0000720714" "0" "50" "6" "149699910" "149699910" "subst" "8.12183E-6" "02326" "TAB2_000032" "g.149699910A>G" "" "" "" "TAB2(NM_001292034.3):c.859A>G (p.(Ile287Val)), TAB2(NM_015093.5):c.859A>G (p.I287V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720715" "0" "90" "6" "149699936" "149699937" "del" "0" "02325" "TAB2_000009" "g.149699936_149699937del" "" "" "" "TAB2(NM_015093.6):c.885_886delAC (p.P296Nfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720716" "0" "90" "6" "149699950" "149699950" "subst" "0" "02325" "TAB2_000010" "g.149699950C>A" "" "" "" "TAB2(NM_015093.6):c.899C>A (p.S300*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720717" "0" "90" "6" "149700278" "149700278" "dup" "0" "02325" "SUMO4_000005" "g.149700278dup" "" "" "" "TAB2(NM_015093.6):c.1227dupA (p.S410Ifs*37)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000720718" "0" "90" "6" "149700391" "149700392" "del" "0" "02329" "TAB2_000016" "g.149700391_149700392del" "" "" "" "TAB2(NM_015093.5):c.1340_1341delCT (p.S447Cfs*25), TAB2(NM_015093.6):c.1340_1341delCT (p.S447Cfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720719" "0" "30" "6" "149730710" "149730710" "subst" "2.84532E-5" "02325" "TAB2_000034" "g.149730710C>T" "" "" "" "TAB2(NM_015093.6):c.1940-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720720" "0" "50" "6" "149730787" "149730787" "subst" "1.21828E-5" "01943" "TAB2_000035" "g.149730787G>A" "" "" "" "TAB2(NM_015093.5):c.2014G>A (p.A672T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000783239" "0" "90" "6" "149699670" "149699670" "dup" "0" "04061" "TAB2_000019" "g.149699670dup" "" "{DOI:Engwerda 2021:10.1038/s41431-021-00948-0}" "" "" "linked to variant 610078 VKGL initiative" "De novo" "" "" "0" "" "" "g.149378534dup" "" "pathogenic (dominant)" "" "0000783240" "0" "90" "6" "149699733" "149699733" "subst" "0" "04061" "TAB2_000020" "g.149699733C>T" "" "{DOI:Engwerda 2021:10.1038/s41431-021-00948-0}" "" "" "linked to variant 610079 VKGL initiative; variant not maternal" "Germline/De novo (untested)" "" "" "0" "" "" "g.149378597C>T" "" "pathogenic (dominant)" "" "0000783241" "0" "90" "6" "149699936" "149699937" "del" "0" "04061" "TAB2_000009" "g.149699936_149699937del" "" "{DOI:Engwerda 2021:10.1038/s41431-021-00948-0}" "" "" "linked to variant 720715 VKGL initiative" "Germline/De novo (untested)" "" "" "0" "" "" "g.149378800_149378801del" "" "pathogenic (dominant)" "" "0000783242" "21" "90" "6" "149699936" "149699937" "del" "0" "04061" "TAB2_000009" "g.149699936_149699937del" "" "{DOI:Engwerda 2021:10.1038/s41431-021-00948-0}" "" "" "linked to variant 720715 VKGL initiative" "Germline" "" "" "0" "" "" "g.149378800_149378801del" "" "pathogenic (dominant)" "" "0000783243" "21" "90" "6" "149699936" "149699937" "del" "0" "04061" "TAB2_000009" "g.149699936_149699937del" "" "{DOI:Engwerda 2021:10.1038/s41431-021-00948-0}" "" "" "linked to variant 720715 VKGL initiative" "Germline" "" "" "0" "" "" "g.149378800_149378801del" "" "pathogenic (dominant)" "" "0000783244" "0" "90" "6" "149699950" "149699950" "subst" "0" "04061" "TAB2_000010" "g.149699950C>A" "" "{DOI:Engwerda 2021:10.1038/s41431-021-00948-0}" "" "" "linked to variants 348920/720716 (same family) VKGL initiative" "Germline/De novo (untested)" "" "" "0" "" "" "g.149378814C>A" "" "pathogenic (dominant)" "" "0000783245" "21" "90" "6" "149699950" "149699950" "subst" "0" "04061" "TAB2_000010" "g.149699950C>A" "" "{DOI:Engwerda 2021:10.1038/s41431-021-00948-0}" "" "" "linked to variants 348920/720716 (same family) VKGL initiative" "Germline" "" "" "0" "" "" "g.149378814C>A" "" "pathogenic (dominant)" "" "0000783246" "21" "90" "6" "149699950" "149699950" "subst" "0" "04061" "TAB2_000010" "g.149699950C>A" "" "{DOI:Engwerda 2021:10.1038/s41431-021-00948-0}" "" "" "linked to variants 348920/720716 (same family) VKGL initiative" "Germline" "" "" "0" "" "" "g.149378814C>A" "" "pathogenic (dominant)" "" "0000783247" "11" "90" "6" "149699950" "149699950" "subst" "0" "04061" "TAB2_000010" "g.149699950C>A" "" "{DOI:Engwerda 2021:10.1038/s41431-021-00948-0}" "" "" "linked to variants 348920/720716 (same family) VKGL initiative" "Germline" "" "" "0" "" "" "g.149378814C>A" "" "pathogenic (dominant)" "" "0000783248" "11" "90" "6" "149699950" "149699950" "subst" "0" "04061" "TAB2_000010" "g.149699950C>A" "" "{DOI:Engwerda 2021:10.1038/s41431-021-00948-0}" "" "" "linked to variants 348920/720716 (same family) VKGL initiative" "Germline" "" "" "0" "" "" "g.149378814C>A" "" "pathogenic (dominant)" "" "0000783249" "21" "90" "6" "149699950" "149699950" "subst" "0" "04061" "TAB2_000010" "g.149699950C>A" "" "{DOI:Engwerda 2021:10.1038/s41431-021-00948-0}" "" "" "linked to variants 348920/720716 (same family) VKGL initiative" "Germline" "" "" "0" "" "" "g.149378814C>A" "" "pathogenic (dominant)" "" "0000783250" "0" "90" "6" "149700278" "149700278" "dup" "0" "04061" "SUMO4_000005" "g.149700278dup" "" "{DOI:Engwerda 2021:10.1038/s41431-021-00948-0}" "" "" "linked to variant 720717 VKGL initiative (c.1227dup)" "De novo" "" "" "0" "" "" "g.149379142dup" "" "pathogenic (dominant)" "" "0000783251" "21" "90" "6" "149700278" "149700278" "dup" "0" "04061" "SUMO4_000005" "g.149700278dup" "" "{DOI:Engwerda 2021:10.1038/s41431-021-00948-0}" "" "" "linked to variant 720717 VKGL initiative (c.1227dup)" "Germline" "" "" "0" "" "" "g.149379142dup" "" "pathogenic (dominant)" "" "0000783252" "0" "90" "6" "149719195" "149719195" "subst" "0" "04061" "TAB2_000024" "g.149719195C>T" "" "{DOI:Engwerda 2021:10.1038/s41431-021-00948-0}" "" "" "linked to variant 610084 VKGL initiative" "De novo" "" "" "0" "" "" "g.149398059C>T" "" "pathogenic (dominant)" "" "0000791265" "0" "70" "6" "149700436" "149700436" "dup" "0" "02120" "TAB2_000040" "g.149700436dup" "" "" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.149379300dup" "" "pathogenic (dominant)" "ACMG" "0000791266" "0" "70" "6" "149700561" "149700561" "subst" "0" "02120" "TAB2_000036" "g.149700561C>T" "" "" "" "g.14969973C>T" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.149379425C>T" "" "pathogenic (dominant)" "ACMG" "0000791267" "0" "90" "6" "149700372" "149700372" "subst" "0" "00735" "TAB2_000037" "g.149700372C>T" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.149379236C>T" "" "likely pathogenic (dominant)" "ACMG" "0000791277" "0" "90" "6" "149699782" "149699782" "del" "0" "02544" "TAB2_000038" "g.149699782del" "" "" "" "731delC" "" "Germline" "yes" "" "0" "" "" "g.149378646del" "" "pathogenic (dominant)" "ACMG" "0000791278" "0" "90" "6" "149699940" "149699940" "subst" "4.06194E-6" "02544" "TAB2_000039" "g.149699940A>G" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000791284" "0" "70" "6" "149700405" "149700405" "subst" "0" "02261" "TAB2_000008" "g.149700405C>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.149379269C>T" "" "pathogenic (dominant)" "" "0000791287" "0" "70" "6" "149700567" "149700567" "del" "0" "02544" "TAB2_000041" "g.149700567del" "" "" "" "1516delC" "" "Germline" "yes" "" "0" "" "" "g.149379431del" "" "pathogenic" "ACMG" "0000791568" "0" "90" "6" "149699730" "149699730" "subst" "0" "04125" "TAB2_000044" "g.149699730C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.149378594C>T" "VCV000561124.1" "pathogenic" "ACMG" "0000802353" "0" "30" "6" "149691037" "149691040" "dup" "0" "02329" "TAB2_000042" "g.149691037_149691040dup" "" "" "" "TAB2(NM_015093.6):c.-89-8_-89-5dupTTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802354" "0" "30" "6" "149719102" "149719102" "subst" "0" "01943" "TAB2_000043" "g.149719102C>T" "" "" "" "TAB2(NM_015093.5):c.1765-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802355" "0" "10" "6" "149721690" "149721690" "subst" "0.552745" "02326" "SUMO4_000002" "g.149721690G>A" "" "" "" "SUMO4(NM_001002255.2):c.163G>A (p.V55M), TAB2(NM_015093.5):c.1939+1370G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000814310" "21" "90" "6" "149580983" "149861981" "del" "0" "00006" "TAB2_000045" "g.(?_149580983)_(149861981_?)del" "" "{PMID:Weiss 2015:26139517}" "" "" "281 kb deletion incl. TAB2, SUMO4, ZC3H12D, PPIL4; FISH RP1-144O21 deleted" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000814312" "0" "90" "6" "149580983" "149861981" "del" "0" "00006" "TAB2_000045" "g.(?_149580983)_(149861981_?)del" "" "{PMID:Weiss 2015:26139517}" "" "" "281 kb deletion incl. TAB2, SUMO4, ZC3H12D, PPIL4; FISH RP1-144O21 deleted" "Germline/De novo (untested)" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000814313" "21" "90" "6" "149580983" "149861981" "del" "0" "00006" "TAB2_000045" "g.(?_149580983)_(149861981_?)del" "" "{PMID:Weiss 2015:26139517}" "" "" "281 kb deletion incl. TAB2, SUMO4, ZC3H12D, PPIL4; FISH RP1-144O21 deleted" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000814328" "0" "90" "6" "143740000" "150210000" "del" "0" "00006" "TAB2_000045" "g.(143720000_143740000)_(150210000_150220000)del" "" "{PMID:Thienpont 2010:20493459}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000814329" "0" "90" "6" "142350000" "152480000" "del" "0" "00006" "TAB2_000045" "g.(142340000_142350000)_(152480000_152490000)del" "" "{PMID:Thienpont 2010:20493459}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000814330" "0" "90" "6" "146180000" "156550000" "del" "0" "00006" "TAB2_000045" "g.(146170000_146180000)_(156550000_156590000)del" "" "{PMID:Thienpont 2010:20493459}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000814331" "0" "90" "6" "148780000" "151350000" "del" "0" "00006" "TAB2_000045" "g.(148700000_148780000)_(151380000_151350000)del" "" "{PMID:Thienpont 2010:20493459}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000814332" "0" "90" "6" "149230000" "156060000" "del" "0" "00006" "TAB2_000045" "g.(149090000_149230000)_(156060000_156300000)del" "" "{PMID:Thienpont 2010:20493459}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000814333" "21" "90" "6" "148840000" "150780000" "del" "0" "00006" "TAB2_000045" "g.(148790000_148840000)_(150780000_151160000)del" "" "{PMID:Thienpont 2010:20493459}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000814334" "0" "90" "6" "148840000" "150780000" "del" "0" "00006" "TAB2_000045" "g.(148790000_148840000)_(150780000_151160000)del" "" "{PMID:Thienpont 2010:20493459}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000814335" "0" "90" "6" "152000000" "155000000" "del" "0" "00006" "TAB2_000000" "g.(?_152000000)_(155000000_?)del" "" "{PMID:Thienpont 2010:20493459}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000814336" "0" "90" "6" "149960000" "160270000" "del" "0" "00006" "TAB2_000045" "g.(149950000_149960000)_(160270000_160280000)del" "" "{PMID:Thienpont 2010:20493459}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000814337" "0" "90" "6" "140350000" "146470000" "del" "0" "00006" "TAB2_000045" "g.(140330000_140350000)_(146470000_146480000)del" "" "{PMID:Thienpont 2010:20493459}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000814338" "0" "90" "6" "152370000" "157790000" "del" "0" "00006" "TAB2_000045" "g.(151160000_152370000)_(157790000_158680000)del" "" "{PMID:Thienpont 2010:20493459}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000814339" "0" "90" "6" "158870000" "4294967295" "del" "0" "00006" "TAB2_000045" "g.(?_1550900000000)_(158870000_158880000)del" "" "{PMID:Thienpont 2010:20493459}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000814340" "21" "90" "6" "0" "0" "" "0" "00006" "TAB2_000046" "g.(149678240_149695219)_qterdelins[NC_000002.11:g.(131691033_131705253)_qter)]" "" "{PMID:Thienpont 2010:20493459}" "" "" "" "Germline" "yes" "" "0" "" "t(2;6)(q21;q25)" "" "" "pathogenic (dominant)" "" "0000814356" "0" "90" "6" "149700542" "149700542" "subst" "0" "00006" "TAB2_000047" "g.149700542T>A" "" "{PMID:Ackerman 2016:27452334}" "" "" "ACMG PVS1, PS2, PS3" "De novo" "" "" "0" "" "" "g.149379406T>A" "" "pathogenic (dominant)" "ACMG" "0000814504" "10" "90" "6" "149700449" "149700449" "dup" "0" "00006" "TAB2_000012" "g.149700449dup" "" "{PMID:Ritelli 2018:28386937}" "" "" "" "Germline" "yes" "" "0" "" "" "g.149379313dup" "" "pathogenic (dominant)" "" "0000814505" "0" "90" "6" "149700449" "149700449" "dup" "0" "00006" "TAB2_000012" "g.149700449dup" "" "{PMID:Ritelli 2018:28386937}" "" "" "" "Germline" "yes" "" "0" "" "" "g.149379313dup" "" "pathogenic (dominant)" "" "0000814506" "0" "90" "6" "149700449" "149700449" "dup" "0" "00006" "TAB2_000012" "g.149700449dup" "" "{PMID:Ritelli 2018:28386937}" "" "" "" "Germline" "yes" "" "0" "" "" "g.149379313dup" "" "pathogenic (dominant)" "" "0000814507" "0" "90" "6" "149056337" "151113208" "del" "0" "00006" "TAB2_000045" "g.(?_149056337)_(151113208_?)del" "" "{PMID:Ritelli 2018:28386937}" "" "149056337-151113208del" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000814694" "21" "90" "6" "149699497" "149699497" "subst" "0" "00006" "TAB2_000048" "g.149699497C>G" "" "{PMID:Chen 2020:31959127}" "" "C446G" "ACMG PVS1, PM2, PP1, PP3, PP4" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000851097" "0" "50" "6" "149700243" "149700243" "subst" "0" "02326" "TAB2_000049" "g.149700243G>A" "" "" "" "TAB2(NM_015093.5):c.1192G>A (p.E398K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860196" "0" "90" "6" "149700391" "149700392" "del" "0" "01943" "TAB2_000016" "g.149700391_149700392del" "" "" "" "TAB2(NM_015093.5):c.1340_1341delCT (p.S447Cfs*25), TAB2(NM_015093.6):c.1340_1341delCT (p.S447Cfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000860197" "0" "50" "6" "149718875" "149718875" "subst" "0" "01943" "TAB2_000050" "g.149718875C>T" "" "" "" "TAB2(NM_015093.5):c.1739C>T (p.S580L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887077" "0" "50" "6" "149691158" "149691158" "subst" "8.12684E-6" "02329" "TAB2_000051" "g.149691158G>A" "" "" "" "TAB2(NM_001369506.1):c.25G>A (p.D9N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887078" "0" "50" "6" "149700023" "149700023" "subst" "0" "02325" "TAB2_000052" "g.149700023C>A" "" "" "" "TAB2(NM_015093.6):c.972C>A (p.N324K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887079" "0" "30" "6" "149720307" "149720307" "subst" "0" "02329" "TAB2_000053" "g.149720307A>T" "" "" "" "TAB2(NM_015093.6):c.1926A>T (p.P642=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887080" "0" "30" "6" "149721798" "149721798" "subst" "2.43875E-5" "02327" "TAB2_000054" "g.149721798A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912419" "0" "30" "6" "149721804" "149721804" "subst" "0" "02325" "TAB2_000055" "g.149721804G>C" "" "" "" "TAB2(NM_015093.6):c.1939+1484G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948665" "0" "50" "6" "149699692" "149699692" "subst" "2.03201E-5" "01804" "TAB2_000056" "g.149699692A>G" "" "" "" "TAB2(NM_001292034.2):c.641A>G (p.(Tyr214Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948666" "0" "50" "6" "149700174" "149700174" "subst" "0" "02329" "TAB2_000057" "g.149700174A>G" "" "" "" "TAB2(NM_015093.6):c.1123A>G (p.N375D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948667" "0" "30" "6" "149720598" "149720598" "subst" "0" "02329" "TAB2_000058" "g.149720598T>C" "" "" "" "TAB2(NM_015093.6):c.1939+278T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963855" "0" "30" "6" "149718900" "149718900" "subst" "4.06865E-6" "02325" "TAB2_000059" "g.149718900C>T" "" "" "" "TAB2(NM_015093.6):c.1764C>T (p.S588=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977020" "0" "50" "6" "149539757" "149539757" "subst" "0" "01804" "TAB2_000060" "g.149539757A>G" "" "" "" "TAB2(NM_001292035.3):c.-148-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977021" "0" "30" "6" "149699089" "149699089" "subst" "0" "02329" "TAB2_000061" "g.149699089A>G" "" "" "" "TAB2(NM_015093.6):c.103-65A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977022" "0" "30" "6" "149700179" "149700179" "subst" "0.00306223" "01804" "TAB2_000015" "g.149700179G>A" "" "" "" "TAB2(NM_001292034.3):c.1128G>A (p.(Thr376=)), TAB2(NM_015093.5):c.1128G>A (p.T376=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977023" "0" "30" "6" "149721554" "149721554" "subst" "0.000174909" "01804" "TAB2_000062" "g.149721554A>C" "" "" "" "SUMO4(NM_001002255.2):c.27A>C (p.(Glu9Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995390" "0" "30" "6" "149699404" "149699404" "subst" "1.21848E-5" "01804" "TAB2_000063" "g.149699404A>G" "" "" "" "TAB2(NM_015093.4):c.353A>G (p.(Asn118Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995391" "0" "50" "6" "149699617" "149699617" "subst" "2.84671E-5" "01804" "TAB2_000064" "g.149699617G>A" "" "" "" "TAB2(NM_015093.4):c.566G>A (p.(Arg189His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995392" "0" "30" "6" "149699860" "149699860" "subst" "1.62472E-5" "01804" "TAB2_000065" "g.149699860C>G" "" "" "" "TAB2(NM_015093.4):c.809C>G (p.(Ser270Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995393" "0" "30" "6" "149700588" "149700588" "subst" "0" "01804" "TAB2_000066" "g.149700588C>G" "" "" "" "TAB2(NM_015093.4):c.1537C>G (p.(His513Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995394" "0" "50" "6" "149720264" "149720264" "subst" "0" "01804" "TAB2_000067" "g.149720264T>A" "" "" "" "TAB2(NM_015093.4):c.1883T>A (p.(Ile628Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014183" "0" "30" "6" "149699776" "149699776" "subst" "0" "02327" "TAB2_000068" "g.149699776T>G" "" "" "" "TAB2(NM_001292034.3):c.725T>G (p.(Met242Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025179" "0" "90" "6" "149718772" "149718772" "subst" "0" "02327" "TAB2_000030" "g.149718772C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001035515" "0" "50" "6" "149639177" "149639177" "subst" "0" "01804" "TAB2_000069" "g.149639177C>T" "" "" "" "TAB2(NM_001292034.3):c.-90+26C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035516" "0" "30" "6" "149678566" "149678566" "subst" "0" "01804" "TAB2_000070" "g.149678566A>C" "" "" "" "TAB2(NM_001292034.3):c.-89-12479A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035517" "0" "30" "6" "149699333" "149699333" "subst" "0.0210613" "01804" "TAB2_000071" "g.149699333A>G" "" "" "" "TAB2(NM_001292034.3):c.282A>G (p.(Gly94=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035518" "0" "50" "6" "149699910" "149699910" "subst" "8.12183E-6" "01804" "TAB2_000032" "g.149699910A>G" "" "" "" "TAB2(NM_001292034.3):c.859A>G (p.(Ile287Val)), TAB2(NM_015093.5):c.859A>G (p.I287V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035519" "0" "30" "6" "149721529" "149721529" "subst" "0.00084226" "01804" "TAB2_000072" "g.149721529T>C" "" "" "" "SUMO4(NM_001002255.2):c.2T>C (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052510" "0" "50" "6" "149699776" "149699776" "subst" "0" "01804" "TAB2_000068" "g.149699776T>G" "" "" "" "TAB2(NM_001292034.3):c.725T>G (p.(Met242Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052511" "0" "30" "6" "149700552" "149700552" "subst" "5.68643E-5" "01804" "TAB2_000073" "g.149700552G>A" "" "" "" "TAB2(NM_001292034.3):c.1501G>A (p.(Glu501Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001064656" "0" "50" "6" "149656694" "149656694" "subst" "0" "02325" "chr6_008452" "g.149656694G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064657" "0" "50" "6" "149699815" "149699815" "subst" "8.13279E-6" "01804" "chr6_008453" "g.149699815C>T" "" "" "" "TAB2(NM_001292034.3):c.764C>T (p.(Pro255Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064658" "0" "90" "6" "149700277" "149700277" "dup" "0" "02325" "chr6_008454" "g.149700277dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 TAB2 ## Count = 202 "{{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}}" "0000004427" "00000740" "50" "1939" "1370" "1939" "1370" "c.1939+1370G>A" "r.(=)" "p.(=)" "" "0000004428" "00000740" "50" "1939" "1645" "1939" "1645" "c.1939+1645T>C" "r.(=)" "p.(=)" "" "0000004429" "00000740" "50" "1939" "1720" "1939" "1720" "c.1939+1720A>G" "r.(=)" "p.(=)" "" "0000004430" "00000740" "50" "1939" "1869" "1939" "1869" "c.1939+1869A>C" "r.(=)" "p.(=)" "" "0000012404" "00000740" "50" "-89" "-12623" "-89" "-12623" "c.-89-12623T>C" "r.(=)" "p.(=)" "" "0000012405" "00000740" "50" "-89" "-12611" "-89" "-12611" "c.-89-12611C>G" "r.(=)" "p.(=)" "" "0000012406" "00000740" "50" "1939" "1370" "1939" "1370" "c.1939+1370G>A" "r.(=)" "p.(=)" "" "0000012407" "00000740" "50" "1939" "1645" "1939" "1645" "c.1939+1645T>C" "r.(=)" "p.(=)" "" "0000012408" "00000740" "50" "1939" "1720" "1939" "1720" "c.1939+1720A>G" "r.(=)" "p.(=)" "" "0000012409" "00000740" "50" "1939" "1869" "1939" "1869" "c.1939+1869A>C" "r.(=)" "p.(=)" "" "0000125887" "00000740" "95" "1705" "0" "1705" "0" "c.1705G>A" "r.(?)" "p.(Glu569Lys)" "" "0000313223" "00025641" "70" "1354" "0" "1354" "0" "c.1354C>T" "r.(?)" "p.(Arg452Ter)" "" "0000313223" "00000740" "70" "1354" "0" "1354" "0" "c.1354C>T" "r.(?)" "p.(Arg452Ter)" "" "0000344891" "00025641" "90" "1619" "0" "1619" "0" "c.1619A>G" "r.(?)" "p.(Gln540Arg)" "" "0000344891" "00000740" "90" "1619" "0" "1619" "0" "c.1619A>G" "r.(?)" "p.(Gln540Arg)" "" "0000348920" "00025641" "90" "899" "0" "899" "0" "c.899C>A" "r.(?)" "p.(Ser300Ter)" "" "0000348920" "00000740" "90" "899" "0" "899" "0" "c.899C>A" "r.(?)" "p.(Ser300Ter)" "" "0000405123" "00000740" "00" "1939" "1645" "1939" "1645" "c.1939+1645T>C" "r.(=)" "p.(=)" "" "0000435215" "00000740" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Pro208Ser)" "5" "0000435216" "00000740" "90" "688" "0" "688" "0" "c.688C>A" "r.(?)" "p.(Gln230Lys)" "-" "0000480167" "00000740" "90" "1398" "0" "1398" "0" "c.1398dup" "r.1398dup" "p.Thr467Tyrfs*6" "" "0000527424" "00025641" "50" "853" "0" "853" "0" "c.853A>C" "r.(?)" "p.(Met285Leu)" "" "0000527424" "00000740" "50" "853" "0" "853" "0" "c.853A>C" "r.(?)" "p.(Met285Leu)" "" "0000527425" "00025641" "50" "1121" "0" "1121" "0" "c.1121dup" "r.(?)" "p.(Asn375LysfsTer4)" "" "0000527425" "00000740" "50" "1121" "0" "1121" "0" "c.1121dup" "r.(?)" "p.(Asn375LysfsTer4)" "" "0000527426" "00025641" "10" "1128" "0" "1128" "0" "c.1128G>A" "r.(?)" "p.(Thr376=)" "" "0000527426" "00000740" "10" "1128" "0" "1128" "0" "c.1128G>A" "r.(?)" "p.(Thr376=)" "" "0000527428" "00025641" "30" "1603" "7" "1603" "7" "c.1603+7T>C" "r.(=)" "p.(=)" "" "0000527428" "00000740" "30" "1603" "7" "1603" "7" "c.1603+7T>C" "r.(=)" "p.(=)" "" "0000527429" "00025641" "10" "1939" "1370" "1939" "1370" "c.1939+1370G>A" "r.(=)" "p.(=)" "" "0000527429" "00000740" "10" "1939" "1370" "1939" "1370" "c.1939+1370G>A" "r.(=)" "p.(=)" "" "0000527430" "00025641" "30" "1939" "1484" "1939" "1484" "c.1939+1484G>A" "r.(=)" "p.(=)" "" "0000527430" "00000740" "30" "1939" "1484" "1939" "1484" "c.1939+1484G>A" "r.(=)" "p.(=)" "" "0000610078" "00025641" "70" "619" "0" "619" "0" "c.619dup" "r.(?)" "p.(Ser207LysfsTer10)" "" "0000610078" "00000740" "70" "619" "0" "619" "0" "c.619dup" "r.(?)" "p.(Ser207LysfsTer10)" "" "0000610079" "00025641" "70" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Gln228Ter)" "" "0000610079" "00000740" "70" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Gln228Ter)" "" "0000610080" "00025641" "30" "774" "0" "774" "0" "c.774T>C" "r.(?)" "p.(Thr258=)" "" "0000610080" "00000740" "30" "774" "0" "774" "0" "c.774T>C" "r.(?)" "p.(Thr258=)" "" "0000610081" "00025641" "30" "1128" "0" "1128" "0" "c.1128G>A" "r.(?)" "p.(Thr376=)" "" "0000610081" "00000740" "30" "1128" "0" "1128" "0" "c.1128G>A" "r.(?)" "p.(Thr376=)" "" "0000610082" "00025641" "30" "1644" "0" "1644" "0" "c.1644A>G" "r.(?)" "p.(Gln548=)" "" "0000610082" "00000740" "30" "1644" "0" "1644" "0" "c.1644A>G" "r.(?)" "p.(Gln548=)" "" "0000610083" "00025641" "50" "1727" "0" "1727" "0" "c.1727G>A" "r.(?)" "p.(Arg576His)" "" "0000610083" "00000740" "50" "1727" "0" "1727" "0" "c.1727G>A" "r.(?)" "p.(Arg576His)" "" "0000610084" "00025641" "70" "1855" "0" "1855" "0" "c.1855C>T" "r.(?)" "p.(Arg619Ter)" "" "0000610084" "00000740" "70" "1855" "0" "1855" "0" "c.1855C>T" "r.(?)" "p.(Arg619Ter)" "" "0000610085" "00025641" "30" "1939" "1491" "1939" "1491" "c.1939+1491A>C" "r.(=)" "p.(=)" "" "0000610085" "00000740" "30" "1939" "1491" "1939" "1491" "c.1939+1491A>C" "r.(=)" "p.(=)" "" "0000655500" "00025641" "70" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Gln245Ter)" "" "0000655500" "00000740" "70" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Gln245Ter)" "" "0000655501" "00025641" "30" "1077" "0" "1077" "0" "c.1077C>T" "r.(?)" "p.(Thr359=)" "" "0000655501" "00000740" "30" "1077" "0" "1077" "0" "c.1077C>T" "r.(?)" "p.(Thr359=)" "" "0000655502" "00025641" "50" "1127" "0" "1127" "0" "c.1127C>T" "r.(?)" "p.(Thr376Met)" "" "0000655502" "00000740" "50" "1127" "0" "1127" "0" "c.1127C>T" "r.(?)" "p.(Thr376Met)" "" "0000655503" "00025641" "30" "1155" "0" "1155" "0" "c.1155T>C" "r.(?)" "p.(Pro385=)" "" "0000655503" "00000740" "30" "1155" "0" "1155" "0" "c.1155T>C" "r.(?)" "p.(Pro385=)" "" "0000664315" "00000740" "70" "1636" "0" "1636" "0" "c.1636C>T" "r.(1636c>u)" "p.(Arg546Ter)" "6" "0000664317" "00000740" "70" "1636" "0" "1636" "0" "c.1636C>T" "r.(1636c>u)" "p.(Arg546Ter)" "6" "0000664318" "00000740" "70" "1636" "0" "1636" "0" "c.1636C>T" "r.(1636c>u)" "p.(Arg546Ter)" "6" "0000664319" "00000740" "70" "1636" "0" "1636" "0" "c.1636C>T" "r.(1636c>u)" "p.(Arg546Ter)" "6" "0000704163" "00000740" "90" "872" "0" "873" "0" "c.872_873del" "r.(?)" "p.(Thr291Asnfs*12)" "" "0000720714" "00025641" "50" "859" "0" "859" "0" "c.859A>G" "r.(?)" "p.(Ile287Val)" "" "0000720714" "00000740" "50" "859" "0" "859" "0" "c.859A>G" "r.(?)" "p.(Ile287Val)" "" "0000720715" "00025641" "90" "885" "0" "886" "0" "c.885_886del" "r.(?)" "p.(Pro296AsnfsTer7)" "" "0000720715" "00000740" "90" "885" "0" "886" "0" "c.885_886del" "r.(?)" "p.(Pro296AsnfsTer7)" "" "0000720716" "00025641" "90" "899" "0" "899" "0" "c.899C>A" "r.(?)" "p.(Ser300Ter)" "" "0000720716" "00000740" "90" "899" "0" "899" "0" "c.899C>A" "r.(?)" "p.(Ser300Ter)" "" "0000720717" "00025641" "90" "1227" "0" "1227" "0" "c.1227dup" "r.(?)" "p.(Ser410Ilefs*37)" "" "0000720717" "00000740" "90" "1227" "0" "1227" "0" "c.1227dup" "r.(?)" "p.(Ser410Ilefs*37)" "" "0000720718" "00025641" "90" "1340" "0" "1341" "0" "c.1340_1341del" "r.(?)" "p.(Ser447CysfsTer25)" "" "0000720718" "00000740" "90" "1340" "0" "1341" "0" "c.1340_1341del" "r.(?)" "p.(Ser447CysfsTer25)" "" "0000720719" "00025641" "30" "1940" "-3" "1940" "-3" "c.1940-3C>T" "r.spl?" "p.?" "" "0000720719" "00000740" "30" "1940" "-3" "1940" "-3" "c.1940-3C>T" "r.spl?" "p.?" "" "0000720720" "00025641" "50" "2014" "0" "2014" "0" "c.2014G>A" "r.(?)" "p.(Ala672Thr)" "" "0000720720" "00000740" "50" "2014" "0" "2014" "0" "c.2014G>A" "r.(?)" "p.(Ala672Thr)" "" "0000783239" "00000740" "90" "619" "0" "619" "0" "c.619dup" "r.(?)" "p.(Ser207LysfsTer10)" "" "0000783240" "00000740" "90" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Gln228Ter)" "" "0000783241" "00000740" "90" "885" "0" "886" "0" "c.885_886del" "r.(?)" "p.(Pro296AsnfsTer7)" "" "0000783242" "00000740" "90" "885" "0" "886" "0" "c.885_886del" "r.(?)" "p.(Pro296AsnfsTer7)" "" "0000783243" "00000740" "90" "885" "0" "886" "0" "c.885_886del" "r.(?)" "p.(Pro296AsnfsTer7)" "" "0000783244" "00000740" "90" "899" "0" "899" "0" "c.899C>A" "r.(?)" "p.(Ser300Ter)" "" "0000783245" "00000740" "90" "899" "0" "899" "0" "c.899C>A" "r.(?)" "p.(Ser300Ter)" "" "0000783246" "00000740" "90" "899" "0" "899" "0" "c.899C>A" "r.(?)" "p.(Ser300Ter)" "" "0000783247" "00000740" "90" "899" "0" "899" "0" "c.899C>A" "r.(?)" "p.(Ser300Ter)" "" "0000783248" "00000740" "90" "899" "0" "899" "0" "c.899C>A" "r.(?)" "p.(Ser300Ter)" "" "0000783249" "00000740" "90" "899" "0" "899" "0" "c.899C>A" "r.(?)" "p.(Ser300Ter)" "" "0000783250" "00000740" "90" "1227" "0" "1227" "0" "c.1227dup" "r.(?)" "p.(Ser410IlefsTer37)" "" "0000783251" "00000740" "90" "1227" "0" "1227" "0" "c.1227dup" "r.(?)" "p.(Ser410IlefsTer37)" "" "0000783252" "00000740" "90" "1855" "0" "1855" "0" "c.1855C>T" "r.(?)" "p.(Arg619Ter)" "" "0000791265" "00000740" "70" "1385" "0" "1385" "0" "c.1385dup" "r.(?)" "p.(Tyr462*)" "" "0000791266" "00000740" "70" "1510" "0" "1510" "0" "c.1510C>T" "r.(?)" "p.(Gln504*)" "" "0000791267" "00000740" "90" "1321" "0" "1321" "0" "c.1321C>T" "r.(?)" "p.(Arg441*)" "" "0000791277" "00000740" "90" "731" "0" "731" "0" "c.731del" "r.(?)" "p.(Pro244Leufs*117)" "4" "0000791278" "00000740" "90" "889" "0" "889" "0" "c.889A>G" "r.(?)" "p.(Thr297Ala)" "4" "0000791284" "00000740" "70" "1354" "0" "1354" "0" "c.1354C>T" "r.(?)" "p.(Arg452*)" "" "0000791287" "00000740" "70" "1516" "0" "1516" "0" "c.1516del" "r.(?)" "p.(Leu506Serfs*6)" "4" "0000791568" "00000740" "90" "679" "0" "679" "0" "c.679C>T" "r.(?)" "p.(Arg227*)" "" "0000802353" "00025641" "30" "-89" "-8" "-89" "-5" "c.-89-8_-89-5dup" "r.spl?" "p.?" "" "0000802353" "00000740" "30" "-89" "-8" "-89" "-5" "c.-89-8_-89-5dup" "r.spl?" "p.?" "" "0000802354" "00025641" "30" "1765" "-3" "1765" "-3" "c.1765-3C>T" "r.spl?" "p.?" "" "0000802354" "00000740" "30" "1765" "-3" "1765" "-3" "c.1765-3C>T" "r.spl?" "p.?" "" "0000802355" "00025641" "10" "1939" "1370" "1939" "1370" "c.1939+1370G>A" "r.(=)" "p.(=)" "" "0000802355" "00000740" "10" "1939" "1370" "1939" "1370" "c.1939+1370G>A" "r.(=)" "p.(=)" "" "0000814310" "00025641" "90" "0" "0" "0" "0" "c.-178_*1892{0}" "r.0" "p.0" "_1_7_" "0000814310" "00000740" "90" "0" "0" "0" "0" "c.-421_*1892{0}" "r.0" "p.0" "_1_9_" "0000814312" "00025641" "90" "0" "0" "0" "0" "c.-178_*1892{0}" "r.0" "p.0" "_1_7_" "0000814312" "00000740" "90" "0" "0" "0" "0" "c.-421_*1892{0}" "r.0" "p.0" "_1_9_" "0000814313" "00025641" "90" "0" "0" "0" "0" "c.-178_*1892{0}" "r.0" "p.0" "_1_7_" "0000814313" "00000740" "90" "0" "0" "0" "0" "c.-421_*1892{0}" "r.0" "p.0" "_1_9_" "0000814328" "00025641" "90" "" "0" "" "0" "c.-178_*1892{0}" "r.0" "p.0" "_1_7_" "0000814329" "00025641" "90" "" "0" "" "0" "c.-178_*1892{0}" "r.0" "p.0" "_1_7_" "0000814330" "00025641" "90" "" "0" "" "0" "c.-178_*1892{0}" "r.0" "p.0" "_1_7_" "0000814331" "00025641" "90" "" "0" "" "0" "c.-178_*1892{0}" "r.0" "p.0" "_1_7_" "0000814332" "00025641" "90" "" "0" "" "0" "c.-178_*1892{0}" "r.0" "p.0" "_1_7_" "0000814333" "00025641" "90" "" "0" "" "0" "c.-178_*1892{0}" "r.0" "p.0" "_1_7_" "0000814334" "00025641" "90" "" "0" "" "0" "c.-178_*1892{0}" "r.0" "p.0" "_1_7_" "0000814335" "00025641" "90" "0" "0" "0" "0" "c.-178_*1892{0}" "r.0" "p.0" "_1_7_" "0000814336" "00025641" "90" "" "0" "" "0" "c.-178_*1892{0}" "r.0" "p.0" "_1_7_" "0000814337" "00025641" "90" "" "0" "" "0" "c.-178_*1892{0}" "r.0" "p.0" "_1_7_" "0000814338" "00025641" "90" "" "0" "" "0" "c.-178_*1892{0}" "r.0" "p.0" "_1_7_" "0000814339" "00025641" "90" "" "0" "" "0" "c.-178_*1892{0}" "r.0" "p.0" "_1_7_" "0000814340" "00025641" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000814340" "00000740" "90" "0" "0" "0" "0" "c.(-89-12805_103-3935)_*1892{0}" "r.?" "p.?" "" "0000814356" "00025641" "90" "1491" "0" "1491" "0" "c.1491T>A" "r.(?)" "p.(Tyr497*)" "" "0000814356" "00000740" "90" "1491" "0" "1491" "0" "c.1491T>A" "r.(?)" "p.(Tyr497*)" "" "0000814504" "00025641" "90" "1398" "0" "1398" "0" "c.1398dup" "r.(?)" "p.(Thr467Tyrfs*6)" "" "0000814504" "00000740" "90" "1398" "0" "1398" "0" "c.1398dup" "r.(?)" "p.(Thr467Tyrfs*6)" "" "0000814505" "00025641" "90" "1398" "0" "1398" "0" "c.1398dup" "r.(?)" "p.(Thr467Tyrfs*6)" "" "0000814505" "00000740" "90" "1398" "0" "1398" "0" "c.1398dup" "r.(?)" "p.(Thr467Tyrfs*6)" "" "0000814506" "00025641" "90" "1398" "0" "1398" "0" "c.1398dup" "r.(?)" "p.(Thr467Tyrfs*6)" "" "0000814506" "00000740" "90" "1398" "0" "1398" "0" "c.1398dup" "r.(?)" "p.(Thr467Tyrfs*6)" "" "0000814507" "00025641" "90" "" "0" "" "0" "c.-178_*1892{0}" "r.0" "p.0" "_1_7_" "0000814507" "00000740" "90" "" "0" "" "0" "c.-421_*1892{0}" "r.0" "p.0" "_1_9_" "0000814694" "00025641" "90" "446" "0" "446" "0" "c.446C>G" "r.(?)" "p.(Ser149*)" "" "0000814694" "00000740" "90" "446" "0" "446" "0" "c.446C>G" "r.(?)" "p.(Ser149*)" "" "0000851097" "00025641" "50" "1192" "0" "1192" "0" "c.1192G>A" "r.(?)" "p.(Glu398Lys)" "" "0000851097" "00000740" "50" "1192" "0" "1192" "0" "c.1192G>A" "r.(?)" "p.(Glu398Lys)" "" "0000860196" "00025641" "90" "1340" "0" "1341" "0" "c.1340_1341del" "r.(?)" "p.(Ser447CysfsTer25)" "" "0000860196" "00000740" "90" "1340" "0" "1341" "0" "c.1340_1341del" "r.(?)" "p.(Ser447CysfsTer25)" "" "0000860197" "00025641" "50" "1739" "0" "1739" "0" "c.1739C>T" "r.(?)" "p.(Ser580Leu)" "" "0000860197" "00000740" "50" "1739" "0" "1739" "0" "c.1739C>T" "r.(?)" "p.(Ser580Leu)" "" "0000887077" "00025641" "50" "25" "0" "25" "0" "c.25G>A" "r.(?)" "p.(Asp9Asn)" "" "0000887077" "00000740" "50" "25" "0" "25" "0" "c.25G>A" "r.(?)" "p.(Asp9Asn)" "" "0000887078" "00025641" "50" "972" "0" "972" "0" "c.972C>A" "r.(?)" "p.(Asn324Lys)" "" "0000887078" "00000740" "50" "972" "0" "972" "0" "c.972C>A" "r.(?)" "p.(Asn324Lys)" "" "0000887079" "00025641" "30" "1926" "0" "1926" "0" "c.1926A>T" "r.(?)" "p.(Pro642=)" "" "0000887079" "00000740" "30" "1926" "0" "1926" "0" "c.1926A>T" "r.(?)" "p.(Pro642=)" "" "0000887080" "00025641" "30" "1939" "1478" "1939" "1478" "c.1939+1478A>T" "r.(=)" "p.(=)" "" "0000887080" "00000740" "30" "1939" "1478" "1939" "1478" "c.1939+1478A>T" "r.(=)" "p.(=)" "" "0000912419" "00025641" "30" "1939" "1484" "1939" "1484" "c.1939+1484G>C" "r.(=)" "p.(=)" "" "0000912419" "00000740" "30" "1939" "1484" "1939" "1484" "c.1939+1484G>C" "r.(=)" "p.(=)" "" "0000948665" "00025641" "50" "641" "0" "641" "0" "c.641A>G" "r.(?)" "p.(Tyr214Cys)" "" "0000948665" "00000740" "50" "641" "0" "641" "0" "c.641A>G" "r.(?)" "p.(Tyr214Cys)" "" "0000948666" "00025641" "50" "1123" "0" "1123" "0" "c.1123A>G" "r.(?)" "p.(Asn375Asp)" "" "0000948666" "00000740" "50" "1123" "0" "1123" "0" "c.1123A>G" "r.(?)" "p.(Asn375Asp)" "" "0000948667" "00025641" "30" "1939" "278" "1939" "278" "c.1939+278T>C" "r.(=)" "p.(=)" "" "0000948667" "00000740" "30" "1939" "278" "1939" "278" "c.1939+278T>C" "r.(=)" "p.(=)" "" "0000963855" "00025641" "30" "1764" "0" "1764" "0" "c.1764C>T" "r.(?)" "p.(=)" "" "0000963855" "00000740" "30" "1764" "0" "1764" "0" "c.1764C>T" "r.(?)" "p.(=)" "" "0000977020" "00025641" "50" "-99484" "0" "-99484" "0" "c.-99484A>G" "r.(?)" "p.(=)" "" "0000977020" "00000740" "50" "-100100" "0" "-100100" "0" "c.-100100A>G" "r.(?)" "p.(=)" "" "0000977021" "00025641" "30" "103" "-65" "103" "-65" "c.103-65A>G" "r.(=)" "p.(=)" "" "0000977021" "00000740" "30" "103" "-65" "103" "-65" "c.103-65A>G" "r.(=)" "p.(=)" "" "0000977022" "00025641" "30" "1128" "0" "1128" "0" "c.1128G>A" "r.(?)" "p.(Thr376=)" "" "0000977022" "00000740" "30" "1128" "0" "1128" "0" "c.1128G>A" "r.(?)" "p.(Thr376=)" "" "0000977023" "00025641" "30" "1939" "1234" "1939" "1234" "c.1939+1234A>C" "r.(=)" "p.(=)" "" "0000977023" "00000740" "30" "1939" "1234" "1939" "1234" "c.1939+1234A>C" "r.(=)" "p.(=)" "" "0000995390" "00025641" "30" "353" "0" "353" "0" "c.353A>G" "r.(?)" "p.(Asn118Ser)" "" "0000995390" "00000740" "30" "353" "0" "353" "0" "c.353A>G" "r.(?)" "p.(Asn118Ser)" "" "0000995391" "00025641" "50" "566" "0" "566" "0" "c.566G>A" "r.(?)" "p.(Arg189His)" "" "0000995391" "00000740" "50" "566" "0" "566" "0" "c.566G>A" "r.(?)" "p.(Arg189His)" "" "0000995392" "00025641" "30" "809" "0" "809" "0" "c.809C>G" "r.(?)" "p.(Ser270Cys)" "" "0000995392" "00000740" "30" "809" "0" "809" "0" "c.809C>G" "r.(?)" "p.(Ser270Cys)" "" "0000995393" "00025641" "30" "1537" "0" "1537" "0" "c.1537C>G" "r.(?)" "p.(His513Asp)" "" "0000995393" "00000740" "30" "1537" "0" "1537" "0" "c.1537C>G" "r.(?)" "p.(His513Asp)" "" "0000995394" "00025641" "50" "1883" "0" "1883" "0" "c.1883T>A" "r.(?)" "p.(Ile628Asn)" "" "0000995394" "00000740" "50" "1883" "0" "1883" "0" "c.1883T>A" "r.(?)" "p.(Ile628Asn)" "" "0001014183" "00025641" "30" "725" "0" "725" "0" "c.725T>G" "r.(?)" "p.(Met242Arg)" "" "0001014183" "00000740" "30" "725" "0" "725" "0" "c.725T>G" "r.(?)" "p.(Met242Arg)" "" "0001025179" "00025641" "90" "1636" "0" "1636" "0" "c.1636C>T" "r.(?)" "p.(Arg546*)" "" "0001025179" "00000740" "90" "1636" "0" "1636" "0" "c.1636C>T" "r.(?)" "p.(Arg546*)" "" "0001035515" "00025641" "50" "-90" "26" "-90" "26" "c.-90+26C>T" "r.(=)" "p.(=)" "" "0001035515" "00000740" "50" "-680" "0" "-680" "0" "c.-680C>T" "r.(?)" "p.(=)" "" "0001035516" "00025641" "30" "-89" "-12479" "-89" "-12479" "c.-89-12479A>C" "r.(=)" "p.(=)" "" "0001035516" "00000740" "30" "-89" "-12479" "-89" "-12479" "c.-89-12479A>C" "r.(=)" "p.(=)" "" "0001035517" "00025641" "30" "282" "0" "282" "0" "c.282A>G" "r.(?)" "p.(=)" "" "0001035517" "00000740" "30" "282" "0" "282" "0" "c.282A>G" "r.(?)" "p.(=)" "" "0001035518" "00025641" "50" "859" "0" "859" "0" "c.859A>G" "r.(?)" "p.(Ile287Val)" "" "0001035518" "00000740" "50" "859" "0" "859" "0" "c.859A>G" "r.(?)" "p.(Ile287Val)" "" "0001035519" "00025641" "30" "1939" "1209" "1939" "1209" "c.1939+1209T>C" "r.(=)" "p.(=)" "" "0001035519" "00000740" "30" "1939" "1209" "1939" "1209" "c.1939+1209T>C" "r.(=)" "p.(=)" "" "0001052510" "00025641" "50" "725" "0" "725" "0" "c.725T>G" "r.(?)" "p.(Met242Arg)" "" "0001052510" "00000740" "50" "725" "0" "725" "0" "c.725T>G" "r.(?)" "p.(Met242Arg)" "" "0001052511" "00025641" "30" "1501" "0" "1501" "0" "c.1501G>A" "r.(?)" "p.(Glu501Lys)" "" "0001052511" "00000740" "30" "1501" "0" "1501" "0" "c.1501G>A" "r.(?)" "p.(Glu501Lys)" "" "0001064656" "00025641" "50" "-90" "17543" "-90" "17543" "c.-90+17543G>A" "r.(=)" "p.(=)" "" "0001064656" "00000740" "50" "-331" "-1" "-331" "-1" "c.-331-1G>A" "r.spl?" "p.?" "" "0001064657" "00025641" "50" "764" "0" "764" "0" "c.764C>T" "r.(?)" "p.(Pro255Leu)" "" "0001064657" "00000740" "50" "764" "0" "764" "0" "c.764C>T" "r.(?)" "p.(Pro255Leu)" "" "0001064658" "00025641" "90" "1226" "0" "1226" "0" "c.1226dup" "r.(?)" "p.(Ser410Ilefs*37)" "" "0001064658" "00000740" "90" "1226" "0" "1226" "0" "c.1226dup" "r.(?)" "p.(Ser410Ilefs*37)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 64 "{{screeningid}}" "{{variantid}}" "0000000209" "0000004427" "0000000209" "0000004428" "0000000209" "0000004429" "0000000209" "0000004430" "0000000210" "0000012404" "0000000210" "0000012405" "0000000210" "0000012406" "0000000210" "0000012407" "0000000210" "0000012408" "0000000210" "0000012409" "0000078782" "0000125887" "0000181427" "0000405123" "0000205804" "0000435215" "0000205805" "0000435216" "0000236453" "0000480167" "0000301386" "0000664315" "0000301387" "0000664317" "0000301388" "0000664318" "0000301389" "0000664319" "0000321334" "0000704163" "0000373270" "0000783239" "0000373271" "0000783240" "0000373272" "0000783241" "0000373273" "0000783242" "0000373274" "0000783243" "0000373275" "0000783244" "0000373276" "0000783245" "0000373277" "0000783246" "0000373278" "0000783247" "0000373279" "0000783248" "0000373280" "0000783249" "0000373281" "0000783250" "0000373282" "0000783251" "0000373283" "0000783252" "0000378482" "0000791265" "0000378483" "0000791266" "0000378484" "0000791267" "0000378494" "0000791277" "0000378495" "0000791278" "0000378498" "0000791284" "0000378502" "0000791287" "0000378522" "0000791568" "0000386656" "0000814310" "0000386657" "0000814313" "0000386658" "0000814312" "0000386660" "0000814328" "0000386661" "0000814329" "0000386662" "0000814330" "0000386663" "0000814331" "0000386664" "0000814332" "0000386665" "0000814333" "0000386666" "0000814334" "0000386667" "0000814335" "0000386668" "0000814336" "0000386669" "0000814337" "0000386670" "0000814338" "0000386671" "0000814339" "0000386672" "0000814340" "0000386680" "0000814356" "0000386778" "0000814504" "0000386779" "0000814505" "0000386780" "0000814506" "0000386781" "0000814507" "0000386877" "0000814694"