### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BCL11B) # 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}}" "BCL11B" "B-cell CLL/lymphoma 11B (zinc finger protein)" "14" "q32" "unknown" "NG_027894.1" "UD_132084427304" "" "https://www.LOVD.nl/BCL11B" "" "1" "13222" "64919" "606558" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/BCL11B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-04-16 11:54:48" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00003338" "BCL11B" "transcript variant 1" "002" "NM_138576.2" "" "NP_612808.1" "" "" "" "-267" "7549" "2685" "99737822" "99635624" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06234" "IMD49" "immunodeficiency, type 49" "AD" "617237" "" "" "" "00006" "2021-12-10 23:20:41" "00006" "2025-01-14 15:00:10" "06243" "IDDSFTA" "Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities" "AD" "618092" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "BCL11B" "06234" "BCL11B" "06243" ## Individuals ## Do not remove or alter this header ## ## Count = 20 "{{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}}" "00163993" "" "" "" "1" "" "02446" "Maskari, submitted" "ex-vivo analysis aortic ring stiffness 185 aortic tissues from organ transplant program" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00163994" "" "" "" "1" "" "02446" "Maskari, submitted" "ex-vivo analysis aortic ring stiffness 185 aortic tissues from organ transplant program" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00170832" "" "" "" "1" "" "02533" "" "" "M" "no" "China" "" "0" "" "" "" "P01" "00170833" "" "" "" "1" "" "02533" "" "" "F" "no" "China" "09y" "0" "" "" "" "P02" "00170834" "" "" "" "1" "" "02533" "" "" "F" "no" "China" "06y" "0" "" "" "" "P03" "00174399" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00375617" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00433669" "" "" "" "1" "" "03544" "" "" "" "" "" "" "" "" "" "" "" "00434745" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat87" "00434746" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat88" "00434747" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat89" "00434748" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat90" "00434749" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat91" "00434750" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat92" "00434751" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat93" "00459788" "" "" "" "1" "" "04791" "" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat1" "00459789" "" "" "" "1" "" "04791" "" "" "M" "no" "Turkey" "" "0" "" "" "" "Pat2" "00459790" "" "" "" "1" "" "04791" "" "" "F" "" "" "" "0" "" "" "" "Pat3" "00459791" "" "" "" "1" "" "04791" "" "" "" "" "" "" "0" "" "" "" "Pat4" "00460917" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00163993" "00198" "00163994" "00198" "00170832" "05162" "00170833" "05162" "00170834" "05162" "00174399" "00198" "00375617" "00198" "00433669" "06243" "00434745" "05611" "00434746" "05611" "00434747" "05611" "00434748" "05611" "00434749" "05611" "00434750" "05611" "00434751" "05611" "00459788" "06243" "00459789" "06243" "00459790" "06243" "00459791" "06243" "00460917" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05162, 05611, 06234, 06243 ## Count = 19 "{{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}}" "0000129097" "00198" "00163993" "02446" "Unknown" "" "for details see paper" "" "" "" "" "" "" "" "" "" "stiffness aortic ring" "" "0000129098" "00198" "00163994" "02446" "Unknown" "" "for details see paper" "" "" "" "" "" "" "" "" "" "stiffness aortic ring" "" "0000135692" "05162" "00170832" "02533" "Isolated (sporadic)" "04y" "facial dysmorphism\r\nautism" "" "04y" "" "" "" "" "" "" "" "" "" "0000135693" "05162" "00170833" "02533" "Isolated (sporadic)" "" "developmental delay\r\nfacial dysmorphism" "" "" "" "" "" "" "" "" "" "" "" "0000135695" "05162" "00170834" "02533" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139237" "00198" "00174399" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Stereotypy (HP:0000733); Strabismus (HP:0000486)" "" "" "" "" "" "" "" "" "" "" "" "0000270830" "00198" "00375617" "01807" "Unknown" "" "Narrow mouth (HP:0000160); Bulbous nose (HP:0000414); Deeply set eye (HP:0000490); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000324092" "06243" "00433669" "03544" "Isolated (sporadic)" "" "intellectual disability, developmental delay, facial abnormalities, cleft palate" "" "" "" "" "" "" "" "" "" "" "" "0000324994" "05611" "00434745" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental dealy" "" "0000324995" "05611" "00434746" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental dealy" "" "0000324996" "05611" "00434747" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental dealy" "" "0000324997" "05611" "00434748" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental dealy" "" "0000324998" "05611" "00434749" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental dealy" "" "0000324999" "05611" "00434750" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental dealy" "" "0000325000" "05611" "00434751" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental dealy" "" "0000347695" "06243" "00459788" "04791" "Isolated (sporadic)" "" "Craniosynostosis" "" "" "" "" "" "" "" "" "IDDSFTA" "" "" "0000347696" "06243" "00459789" "04791" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000347697" "06243" "00459790" "04791" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000347698" "06243" "00459791" "04791" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 20 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000164859" "00163993" "1" "02446" "00006" "2018-05-04 11:07:34" "00006" "2018-05-04 11:15:14" "RT-PCRq;SEQ;TaqMan" "DNA" "" "" "0000164860" "00163994" "1" "02446" "00006" "2018-05-04 11:18:52" "" "" "RT-PCRq;SEQ;TaqMan" "DNA" "" "" "0000171713" "00170832" "1" "02533" "02533" "2018-07-24 02:34:58" "" "" "arrayCNV" "DNA" "" "" "0000171714" "00170833" "1" "02533" "02533" "2018-07-24 02:42:10" "" "" "arrayCNV" "DNA" "" "" "0000171715" "00170834" "1" "02533" "02533" "2018-07-24 02:51:10" "" "" "arrayCNV" "DNA" "" "" "0000175290" "00174399" "1" "01807" "01807" "2018-08-08 12:41:37" "" "" "SEQ" "DNA" "" "" "0000376814" "00375617" "1" "01807" "01807" "2021-06-14 12:09:02" "" "" "SEQ" "DNA" "" "" "0000435127" "00433669" "1" "03544" "03544" "2023-03-13 05:06:02" "" "" "SEQ-NG-I" "DNA" "" "" "0000436217" "00434745" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436218" "00434746" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436219" "00434747" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436220" "00434748" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436221" "00434749" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436222" "00434750" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436223" "00434751" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461418" "00459788" "1" "04791" "04791" "2025-01-13 11:31:37" "" "" "SEQ-NG-I" "DNA" "" "" "0000461419" "00459789" "1" "04791" "04791" "2025-01-13 11:52:19" "" "" "SEQ-NG-I" "DNA" "" "" "0000461420" "00459790" "1" "04791" "04791" "2025-01-13 11:57:50" "" "" "arrayCGH" "DNA" "" "" "0000461421" "00459791" "1" "04791" "04791" "2025-01-13 12:04:59" "" "" "SEQ-NG-I" "DNA" "" "" "0000462549" "00460917" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "mRNA splicing analysis on tissue" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000462549" "BCL11B" ## 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 = 66 "{{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}}" "0000263635" "0" "10" "14" "99697665" "99697665" "subst" "0.0165591" "01943" "BCL11B_000001" "g.99697665G>A" "" "" "" "BCL11B(NM_138576.3):c.640+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99231328G>A" "" "benign" "" "0000263636" "0" "50" "14" "99737549" "99737549" "subst" "0" "01943" "BCL11B_000002" "g.99737549G>T" "" "" "" "BCL11B(NM_138576.3):c.7C>A (p.R3S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.99271212G>T" "" "VUS" "" "0000368471" "3" "50" "14" "98592364" "98592364" "subst" "0" "02446" "BCL11B_000003" "g.98592364C>T" "" "Maskari, submitted" "" "" "associated with increased aortic ring stiffness; shows 3-fold higher mean BCL11B RNA expression compared with homozygous T allele" "Germline" "" "rs1381289" "0" "" "" "g.98126027C>T" "" "association" "" "0000368472" "0" "50" "14" "98549383" "98549383" "subst" "0" "02446" "BCL11B_000004" "g.98549383T>C" "" "Maskari, submitted" "" "" "associated with increased aortic ring stiffness; shows 1.8-fold lower mean BCL11B RNA expression compared with homozygous T allele" "Germline" "" "rs10782490" "0" "" "" "g.98083046T>C" "" "association" "" "0000392006" "0" "70" "14" "99670004" "99987146" "del" "0" "02533" "BCL11B_000005" "g.(99600000_99670004)_(99987146_100000000)del" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000392007" "0" "70" "14" "99268957" "100028788" "del" "0" "02533" "BCL11B_000005" "g.(99000000_99268957)_(100028788_101000000)del" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000392008" "0" "70" "14" "98058263" "100498578" "del" "0" "02533" "BCL11B_000005" "g.(97000000_98058263)_(100498578_101000000)del" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000395161" "0" "90" "14" "99641691" "99641716" "del" "0" "01807" "BCL11B_000006" "g.99641691_99641716del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.99175354_99175379del" "" "pathogenic" "" "0000553505" "0" "30" "14" "99640890" "99640890" "subst" "0" "01943" "BCL11B_000007" "g.99640890G>A" "" "" "" "BCL11B(NM_138576.3):c.2283C>T (p.D761=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99174553G>A" "" "likely benign" "" "0000553506" "0" "50" "14" "99641135" "99641135" "subst" "0" "02325" "BCL11B_000008" "g.99641135C>T" "" "" "" "BCL11B(NM_138576.4):c.2038G>A (p.G680R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99174798C>T" "" "VUS" "" "0000553507" "0" "30" "14" "99641568" "99641570" "dup" "0" "01943" "BCL11B_000009" "g.99641568_99641570dup" "" "" "" "BCL11B(NM_138576.3):c.1627_1629dupGAG (p.E543dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99175231_99175233dup" "" "likely benign" "" "0000615153" "0" "70" "14" "99641288" "99641294" "del" "0" "02327" "BCL11B_000013" "g.99641288_99641294del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99174951_99174957del" "" "likely pathogenic" "" "0000615154" "0" "90" "14" "99641918" "99641918" "dup" "0" "02325" "BCL11B_000014" "g.99641918dup" "" "" "" "BCL11B(NM_138576.4):c.1259dupC (p.Q421Afs*96)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99175581dup" "" "pathogenic" "" "0000623185" "0" "30" "14" "99724180" "99724180" "subst" "0" "01943" "BCL11B_000015" "g.99724180G>C" "" "" "" "BCL11B(NM_138576.3):c.59-4C>G, BCL11B(NM_138576.4):c.59-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99257843G>C" "" "likely benign" "" "0000657520" "0" "10" "14" "99641568" "99641570" "del" "0" "02325" "BCL11B_000016" "g.99641568_99641570del" "" "" "" "BCL11B(NM_138576.4):c.1627_1629delGAG (p.E543del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99175231_99175233del" "" "benign" "" "0000657521" "0" "70" "14" "99642426" "99642426" "subst" "0" "02327" "BCL11B_000017" "g.99642426G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99176089G>T" "" "likely pathogenic" "" "0000657522" "0" "30" "14" "99724136" "99724136" "subst" "8.55635E-5" "02326" "BCL11B_000018" "g.99724136G>A" "" "" "" "BCL11B(NM_138576.4):c.99C>T (p.D33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.99257799G>A" "" "likely benign" "" "0000680092" "0" "70" "14" "99640654" "99640654" "subst" "0" "02327" "BCL11B_000019" "g.99640654G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000680093" "0" "50" "14" "99641155" "99641155" "subst" "0" "01943" "BCL11B_000020" "g.99641155G>C" "" "" "" "BCL11B(NM_138576.3):c.2018C>G (p.P673R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680094" "0" "70" "14" "99641214" "99641241" "del" "0" "02327" "BCL11B_000021" "g.99641214_99641241del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000691745" "0" "30" "14" "99641230" "99641230" "subst" "0.00218341" "01943" "BCL11B_000022" "g.99641230C>A" "" "" "" "BCL11B(NM_138576.3):c.1943G>T (p.G648V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691746" "0" "50" "14" "99641908" "99641908" "subst" "2.71314E-5" "01943" "BCL11B_000023" "g.99641908G>A" "" "" "" "BCL11B(NM_138576.3):c.1265C>T (p.P422L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724937" "0" "50" "14" "99640634" "99640634" "subst" "0" "02329" "BCL11B_000024" "g.99640634C>T" "" "" "" "BCL11B(NM_001282237.2):c.2536G>A (p.G846R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724938" "0" "70" "14" "99641683" "99641683" "dup" "0" "02329" "BCL11B_000010" "g.99641683dup" "" "" "" "BCL11B(NM_138576.4):c.1494dupC (p.E499Rfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000788867" "0" "90" "14" "99641258" "99641259" "dup" "0" "01807" "BCL11B_000025" "g.99641258_99641259dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.99174921_99174922dup" "" "pathogenic" "" "0000806551" "0" "30" "14" "99641540" "99641540" "subst" "0" "01943" "BCL11B_000026" "g.99641540G>A" "" "" "" "BCL11B(NM_138576.3):c.1633C>T (p.L545=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806552" "0" "30" "14" "99641613" "99641613" "subst" "0" "01943" "BCL11B_000027" "g.99641613G>A" "" "" "" "BCL11B(NM_138576.3):c.1560C>T (p.H520=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806553" "0" "30" "14" "99697779" "99697779" "subst" "0.000857222" "01943" "BCL11B_000028" "g.99697779G>A" "" "" "" "BCL11B(NM_138576.3):c.543C>T (p.L181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853931" "0" "30" "14" "99641238" "99641238" "subst" "0" "01943" "BCL11B_000029" "g.99641238C>T" "" "" "" "BCL11B(NM_138576.3):c.1935G>A (p.A645=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853932" "0" "30" "14" "99697717" "99697717" "subst" "4.63708E-5" "02325" "BCL11B_000031" "g.99697717G>A" "" "" "" "BCL11B(NM_138576.4):c.605C>T (p.T202M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863737" "0" "30" "14" "99642240" "99642240" "subst" "0.000321687" "01943" "BCL11B_000030" "g.99642240C>A" "" "" "" "BCL11B(NM_138576.3):c.933G>T (p.P311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863738" "0" "30" "14" "99697753" "99697753" "subst" "1.32485E-5" "02326" "BCL11B_000032" "g.99697753G>A" "" "" "" "BCL11B(NM_138576.4):c.569C>T (p.P190L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891959" "0" "50" "14" "99640978" "99640978" "subst" "0" "02325" "BCL11B_000033" "g.99640978G>A" "" "" "" "BCL11B(NM_138576.4):c.2195C>T (p.A732V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891960" "0" "50" "14" "99641569" "99641583" "dup" "0" "02325" "BCL11B_000034" "g.99641569_99641583dup" "" "" "" "BCL11B(NM_138576.4):c.1602_1616dupCGAGGAGGAGGAGGA (p.D534_E538dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891961" "0" "90" "14" "99642084" "99642084" "del" "0" "02327" "BCL11B_000035" "g.99642084del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000891962" "0" "30" "14" "99642417" "99642417" "subst" "0" "02326" "BCL11B_000036" "g.99642417G>A" "" "" "" "BCL11B(NM_138576.4):c.756C>T (p.P252=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891963" "0" "50" "14" "99642435" "99642435" "subst" "0" "02325" "BCL11B_000037" "g.99642435G>C" "" "" "" "BCL11B(NM_138576.4):c.738C>G (p.F246L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914261" "0" "30" "14" "99641198" "99641198" "subst" "0" "02325" "BCL11B_000038" "g.99641198C>T" "" "" "" "BCL11B(NM_138576.4):c.1975G>A (p.A659T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000921066" "0" "90" "14" "99641139" "99641139" "del" "0" "03544" "BCL11B_000039" "g.99641139del" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.99174802del" "" "pathogenic (dominant)" "ACMG" "0000922576" "0" "90" "14" "99724025" "99724025" "del" "0" "00006" "BCL11B_000045" "g.99724025del" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PVS1, PM2, PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.99257688del" "" "pathogenic (dominant)" "ACMG" "0000922577" "0" "70" "14" "99642388" "99642388" "subst" "0" "00006" "BCL11B_000044" "g.99642388C>T" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PS2, PM2, PP4" "De novo" "" "" "0" "" "" "g.99176051C>T" "" "likely pathogenic (dominant)" "ACMG" "0000922578" "0" "70" "14" "99641592" "99641592" "del" "0" "00006" "BCL11B_000043" "g.99641592del" "" "{PMID:Chen 2022:34906496}" "" "" "mildly affected proband, variant transmitted to more severely affected offspring; ACMG PS2, PM2, PP4" "De novo" "" "" "0" "" "" "g.99175255del" "" "likely pathogenic (dominant)" "ACMG" "0000922579" "0" "70" "14" "99640752" "99640752" "subst" "0" "00006" "BCL11B_000042" "g.99640752G>C" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PS2, PM2, PP4" "De novo" "" "" "0" "" "" "g.99174415G>C" "" "likely pathogenic (dominant)" "ACMG" "0000922580" "0" "70" "14" "99640721" "99640734" "dup" "0" "00006" "BCL11B_000041" "g.99640721_99640734dup" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PS2, PM2, PP4" "De novo" "" "" "0" "" "" "g.99174397_99174398insGGCTCCGCCGGTGCGGCTCCGCCGGTGC" "" "likely pathogenic (dominant)" "ACMG" "0000922581" "0" "70" "14" "99640721" "99640734" "dup" "0" "00006" "BCL11B_000041" "g.99640721_99640734dup" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PS2, PM2, PP4" "De novo" "" "" "0" "" "" "g.99174397_99174398insGGCTCCGCCGGTGCGGCTCCGCCGGTGC" "" "likely pathogenic (dominant)" "ACMG" "0000922582" "0" "70" "14" "99640720" "99640733" "del" "0" "00006" "BCL11B_000040" "g.99640720_99640733del" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PS2, PM2, PP4" "De novo" "" "" "0" "" "" "g.99174383_99174396del" "" "likely pathogenic (dominant)" "ACMG" "0000930357" "0" "30" "14" "99641565" "99641570" "del" "0" "02325" "BCL11B_000046" "g.99641565_99641570del" "" "" "" "BCL11B(NM_138576.4):c.1624_1629delGAGGAG (p.E542_E543del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930358" "0" "30" "14" "99723941" "99723941" "subst" "4.06197E-6" "02326" "BCL11B_000047" "g.99723941C>T" "" "" "" "BCL11B(NM_138576.4):c.294G>A (p.P98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950307" "0" "50" "14" "99737518" "99737518" "subst" "0" "02325" "BCL11B_000048" "g.99737518G>T" "" "" "" "BCL11B(NM_138576.4):c.38C>A (p.S13Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981090" "0" "70" "14" "99641219" "99641240" "del" "0" "01804" "BCL11B_000049" "g.99641219_99641240del" "" "" "" "BCL11B(NM_138576.4):c.1933_1954del (p.(Ala645ThrfsTer71))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981091" "0" "50" "14" "99641266" "99641283" "dup" "0" "01804" "BCL11B_000050" "g.99641266_99641283dup" "" "" "" "BCL11B(NM_138576.4):c.1892_1909dup (p.(Gly631_Asp636dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981092" "0" "30" "14" "99723803" "99723803" "subst" "0.000292433" "01804" "BCL11B_000051" "g.99723803C>T" "" "" "" "BCL11B(NM_138576.4):c.427+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001226" "0" "50" "14" "99641060" "99641060" "subst" "0" "01804" "BCL11B_000052" "g.99641060C>T" "" "" "" "BCL11B(NM_138576.2):c.2113G>A (p.(Glu705Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001227" "0" "70" "14" "99641066" "99641091" "delins" "0" "02327" "BCL11B_000053" "g.99641066_99641091delinsTGG" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001001228" "0" "50" "14" "99641556" "99641556" "subst" "0" "01804" "BCL11B_000054" "g.99641556C>G" "" "" "" "BCL11B(NM_001282237.1):c.1614G>C (p.(Glu538Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001229" "0" "30" "14" "99642122" "99642122" "subst" "2.7971E-5" "01804" "BCL11B_000055" "g.99642122G>A" "" "" "" "BCL11B(NM_001282237.1):c.1048C>T (p.(Arg350Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001230" "0" "30" "14" "99642254" "99642254" "subst" "0" "01804" "BCL11B_000056" "g.99642254C>A" "" "" "" "BCL11B(NM_001282237.1):c.916G>T (p.(Gly306Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001231" "0" "50" "14" "99697798" "99697798" "subst" "0" "01804" "BCL11B_000057" "g.99697798C>A" "" "" "" "BCL11B(NM_138576.2):c.524G>T (p.(Gly175Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001232" "0" "30" "14" "99723988" "99723988" "subst" "2.84687E-5" "01804" "BCL11B_000058" "g.99723988C>T" "" "" "" "BCL11B(NM_138576.2):c.247G>A (p.(Gly83Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001020724" "0" "90" "14" "99642367" "99642394" "dup" "0" "04791" "BCL11B_000059" "g.99642367_99642394dup" "" "" "" "" "mosaic" "De novo" "" "" "0" "" "" "g.99176030_99176057dup" "" "pathogenic" "ACMG" "0001020725" "0" "90" "14" "99640717" "99640738" "del" "0" "04791" "BCL11B_000060" "g.99640717_99640738del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.99174380_99174401del" "" "pathogenic" "ACMG" "0001020726" "0" "50" "14" "99052763" "100591634" "del" "0" "04791" "BCL11B_000061" "g.(?_99052763)_(100591634_?)del" "" "" "" "chr14:99052763:100591634:DEL" "" "De novo" "" "" "0" "" "" "g.(?_98586426)_(100125297_?)del" "" "pathogenic" "ACMG" "0001020727" "0" "90" "14" "99723832" "99723835" "dup" "0" "04791" "BCL11B_000062" "g.99723832_99723835dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.99257495_99257498dup" "" "pathogenic" "ACMG" "0001022076" "0" "50" "14" "99641173" "99641173" "subst" "0" "04796" "BCL11B_000063" "g.99641173C>T" "" "" "" "" "no effect on RNA" "Germline/De novo (untested)" "" "" "0" "" "" "g.99174836C>T" "" "VUS" "" "0001040191" "0" "50" "14" "99697771" "99697771" "subst" "4.48386E-6" "01804" "BCL11B_000064" "g.99697771G>C" "" "" "" "BCL11B(NM_138576.4):c.551C>G (p.(Pro184Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040192" "0" "30" "14" "99724180" "99724180" "subst" "0" "01804" "BCL11B_000015" "g.99724180G>C" "" "" "" "BCL11B(NM_138576.3):c.59-4C>G, BCL11B(NM_138576.4):c.59-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes BCL11B ## Count = 66 "{{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}}" "0000263635" "00003338" "10" "640" "17" "640" "17" "c.640+17C>T" "r.(=)" "p.(=)" "" "0000263636" "00003338" "50" "7" "0" "7" "0" "c.7C>A" "r.(?)" "p.(Arg3Ser)" "" "0000368471" "00003338" "50" "1050809" "0" "1050809" "0" "c.*1048124G>A" "r.(=)" "p.(=)" "" "0000368472" "00003338" "50" "1093790" "0" "1093790" "0" "c.*1091105A>G" "r.(=)" "p.(=)" "" "0000392006" "00003338" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000392007" "00003338" "70" "0" "0" "0" "0" "c.-0" "r.0" "p.0" "" "0000392008" "00003338" "70" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000395161" "00003338" "90" "1460" "0" "1485" "0" "c.1460_1485del" "r.(?)" "p.(Arg487Glnfs*21)" "" "0000553505" "00003338" "30" "2283" "0" "2283" "0" "c.2283C>T" "r.(?)" "p.(Asp761=)" "" "0000553506" "00003338" "50" "2038" "0" "2038" "0" "c.2038G>A" "r.(?)" "p.(Gly680Arg)" "" "0000553507" "00003338" "30" "1627" "0" "1629" "0" "c.1627_1629dup" "r.(?)" "p.(Glu543dup)" "" "0000615153" "00003338" "70" "1887" "0" "1893" "0" "c.1887_1893del" "r.(?)" "p.(Gly630ThrfsTer91)" "" "0000615154" "00003338" "90" "1259" "0" "1259" "0" "c.1259dup" "r.(?)" "p.(Gln421AlafsTer96)" "" "0000623185" "00003338" "30" "59" "-4" "59" "-4" "c.59-4C>G" "r.spl?" "p.?" "" "0000657520" "00003338" "10" "1627" "0" "1629" "0" "c.1627_1629del" "r.(?)" "p.(Glu543del)" "" "0000657521" "00003338" "70" "747" "0" "747" "0" "c.747C>A" "r.(?)" "p.(Tyr249Ter)" "" "0000657522" "00003338" "30" "99" "0" "99" "0" "c.99C>T" "r.(?)" "p.(Asp33=)" "" "0000680092" "00003338" "70" "2519" "0" "2519" "0" "c.2519C>T" "r.(?)" "p.(Thr840Met)" "" "0000680093" "00003338" "50" "2018" "0" "2018" "0" "c.2018C>G" "r.(?)" "p.(Pro673Arg)" "" "0000680094" "00003338" "70" "1938" "0" "1965" "0" "c.1938_1965del" "r.(?)" "p.(Gly648AlafsTer66)" "" "0000691745" "00003338" "30" "1943" "0" "1943" "0" "c.1943G>T" "r.(?)" "p.(Gly648Val)" "" "0000691746" "00003338" "50" "1265" "0" "1265" "0" "c.1265C>T" "r.(?)" "p.(Pro422Leu)" "" "0000724937" "00003338" "50" "2539" "0" "2539" "0" "c.2539G>A" "r.(?)" "p.(Gly847Arg)" "" "0000724938" "00003338" "70" "1494" "0" "1494" "0" "c.1494dup" "r.(?)" "p.(Glu499ArgfsTer18)" "" "0000788867" "00003338" "90" "1916" "0" "1917" "0" "c.1916_1917dup" "r.(?)" "p.(Gly640ArgfsTer84)" "" "0000806551" "00003338" "30" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Leu545=)" "" "0000806552" "00003338" "30" "1560" "0" "1560" "0" "c.1560C>T" "r.(?)" "p.(His520=)" "" "0000806553" "00003338" "30" "543" "0" "543" "0" "c.543C>T" "r.(?)" "p.(Leu181=)" "" "0000853931" "00003338" "30" "1935" "0" "1935" "0" "c.1935G>A" "r.(?)" "p.(Ala645=)" "" "0000853932" "00003338" "30" "605" "0" "605" "0" "c.605C>T" "r.(?)" "p.(Thr202Met)" "" "0000863737" "00003338" "30" "933" "0" "933" "0" "c.933G>T" "r.(?)" "p.(Pro311=)" "" "0000863738" "00003338" "30" "569" "0" "569" "0" "c.569C>T" "r.(?)" "p.(Pro190Leu)" "" "0000891959" "00003338" "50" "2195" "0" "2195" "0" "c.2195C>T" "r.(?)" "p.(Ala732Val)" "" "0000891960" "00003338" "50" "1602" "0" "1616" "0" "c.1602_1616dup" "r.(?)" "p.(Asp534_Glu538dup)" "" "0000891961" "00003338" "90" "1089" "0" "1089" "0" "c.1089del" "r.(?)" "p.(Ser364Argfs*29)" "" "0000891962" "00003338" "30" "756" "0" "756" "0" "c.756C>T" "r.(?)" "p.(Pro252=)" "" "0000891963" "00003338" "50" "738" "0" "738" "0" "c.738C>G" "r.(?)" "p.(Phe246Leu)" "" "0000914261" "00003338" "30" "1975" "0" "1975" "0" "c.1975G>A" "r.(?)" "p.(Ala659Thr)" "" "0000921066" "00003338" "90" "2037" "0" "2037" "0" "c.2037del" "r.(?)" "p.(Leu681Serfs*42)" "" "0000922576" "00003338" "90" "211" "0" "211" "0" "c.211del" "r.(?)" "p.(Leu71TrpfsTer4)" "2" "0000922577" "00003338" "70" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Arg262Gln)" "4" "0000922578" "00003338" "70" "1582" "0" "1582" "0" "c.1582del" "r.(?)" "p.(His528ThrfsTer35)" "4" "0000922579" "00003338" "70" "2421" "0" "2421" "0" "c.2421C>G" "r.(?)" "p.(Asn807Lys)" "4" "0000922580" "00003338" "70" "2439" "0" "2452" "0" "c.2439_2452dup" "r.(?)" "p.(His818ArgfsTer31)" "4" "0000922581" "00003338" "70" "2439" "0" "2452" "0" "c.2439_2452dup" "r.(?)" "p.(His818ArgfsTer31)" "4" "0000922582" "00003338" "70" "2448" "0" "2461" "0" "c.2448_2461del" "r.(?)" "p.(Ser817AlafsTer63)" "4" "0000930357" "00003338" "30" "1624" "0" "1629" "0" "c.1624_1629del" "r.(?)" "p.(Glu542_Glu543del)" "" "0000930358" "00003338" "30" "294" "0" "294" "0" "c.294G>A" "r.(?)" "p.(=)" "" "0000950307" "00003338" "50" "38" "0" "38" "0" "c.38C>A" "r.(?)" "p.(Ser13Tyr)" "" "0000981090" "00003338" "70" "1933" "0" "1954" "0" "c.1933_1954del" "r.(?)" "p.(Ala645Thrfs*71)" "" "0000981091" "00003338" "50" "1892" "0" "1909" "0" "c.1892_1909dup" "r.(?)" "p.(Gly631_Asp636dup)" "" "0000981092" "00003338" "30" "427" "5" "427" "5" "c.427+5G>A" "r.spl?" "p.?" "" "0001001226" "00003338" "50" "2113" "0" "2113" "0" "c.2113G>A" "r.(?)" "p.(Glu705Lys)" "" "0001001227" "00003338" "70" "2082" "0" "2107" "0" "c.2082_2107delinsCCA" "r.(?)" "p.(Glu695Hisfs*182)" "" "0001001228" "00003338" "50" "1617" "0" "1617" "0" "c.1617G>C" "r.(?)" "p.(Glu539Asp)" "" "0001001229" "00003338" "30" "1051" "0" "1051" "0" "c.1051C>T" "r.(?)" "p.(=)" "" "0001001230" "00003338" "30" "919" "0" "919" "0" "c.919G>T" "r.(?)" "p.(Glu307*)" "" "0001001231" "00003338" "50" "524" "0" "524" "0" "c.524G>T" "r.(?)" "p.(Gly175Val)" "" "0001001232" "00003338" "30" "247" "0" "247" "0" "c.247G>A" "r.(?)" "p.(Gly83Ser)" "" "0001020724" "00003338" "90" "781" "0" "808" "0" "c.781_808dup" "r.(?)" "p.(Gly270Alafs*256)" "" "0001020725" "00003338" "90" "2438" "0" "2459" "0" "c.2438_2459del" "r.(?)" "p.(Val813Alafs*24)" "" "0001020726" "00003338" "90" "-854079" "0" "590410" "0" "c.(?_-854079)_(*587725_?)del" "r.0" "p.0" "_1_4_" "0001020727" "00003338" "90" "400" "0" "403" "0" "c.400_403dup" "r.(?)" "p.(Cys135Tyrfs*61)" "" "0001022076" "00003338" "50" "2000" "0" "2000" "0" "c.2000G>A" "r.2000G>A" "p.Gly667Glu" "" "0001040191" "00003338" "50" "551" "0" "551" "0" "c.551C>G" "r.(?)" "p.(Pro184Arg)" "" "0001040192" "00003338" "30" "59" "-4" "59" "-4" "c.59-4C>G" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000164859" "0000368471" "0000164860" "0000368472" "0000171713" "0000392006" "0000171714" "0000392007" "0000171715" "0000392008" "0000175290" "0000395161" "0000376814" "0000788867" "0000435127" "0000921066" "0000436217" "0000922576" "0000436218" "0000922577" "0000436219" "0000922578" "0000436220" "0000922579" "0000436221" "0000922580" "0000436222" "0000922581" "0000436223" "0000922582" "0000461418" "0001020724" "0000461419" "0001020725" "0000461420" "0001020726" "0000461421" "0001020727" "0000462549" "0001022076"