### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TBX6) # 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}}" "TBX6" "T-box 6" "16" "p11.2" "unknown" "NG_023283.1" "UD_132084486269" "" "http://www.LOVD.nl/TBX6" "" "1" "11605" "6911" "602427" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/TBX6_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-11-24 08:33:26" "00000" "2025-11-01 13:22:20" ## 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}}" "00020858" "TBX6" "T-box 6" "001" "NM_004608.3" "" "NP_004599.2" "" "" "" "-60" "1743" "1311" "30103205" "30097114" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04279" "SCDO5" "dysostosis, spondylocostal, autosomal recessive, type 5 (SCDO-5)" "AD;AR" "122600" "" "" "" "00006" "2015-05-29 16:26:21" "00006" "2021-12-10 21:51:32" "05657" "MRKHS" "Mayer-Rokitansky-Kuster-Hauser syndrome (MRKHS)" "" "277000" "" "" "" "00006" "2019-09-30 13:16:32" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TBX6" "04279" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00050370" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected mother/child" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050653" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050683" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00088168" "" "" "" "1" "" "01824" "" "" "M" "no" "Japan" "" "0" "" "" "Japanese" "" "00326951" "" "" "" "1" "" "00006" "{PMID:Chen 2021:33434492}, {DOI:Chen 2021:10.1016/j.ajhg.2020.12.014}" "" "F" "" "China" "" "0" "" "" "Han" "MRK639" "00390025" "" "" "" "1" "" "00000" "{PMID:Ruberto 2020:32507954}" "" "?" "" "Italy" "" "0" "" "" "" "3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00050370" "00198" "00050653" "00198" "00050683" "00198" "00088168" "00198" "00326951" "05657" "00390025" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04214, 04279, 05657 ## Count = 6 "{{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}}" "0000036982" "00198" "00050370" "00006" "Unknown" "" "cleft palate, micrognathia, upslanted palpebral fissure, obesity, global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000037265" "00198" "00050653" "00006" "Isolated (sporadic)" "" "global developmental delay, specific learning disability, constipation, hypoplasia of dental enamel" "" "" "" "" "" "" "" "" "" "" "" "0000037295" "00198" "00050683" "00006" "Unknown" "" "microcephaly, abnormality of the outer ear, prominent metopic ridge, narrow mouth, inferior vermis hypoplasia, delayed speech and language development" "" "" "" "" "" "" "" "" "" "" "" "0000067730" "00198" "00088168" "01824" "Unknown" "" "congenital scoliosis (butterfly vertebrae HP:0002937), convulsive seizure, dysarthria" "" "" "" "" "" "" "" "" "" "" "" "0000245416" "05657" "00326951" "00006" "Unknown" "" "see paper; ..., vertebral malformation" "" "" "" "" "" "" "" "" "" "Mayer-Rokitansky-Küster-Hauser type II" "" "0000283565" "04214" "00390025" "00000" "Unknown" "11m" "Pale and tilted optic disk associated to hypoplasia, tortuous retinal vessels, non-homogeneous macula" "" "" "" "" "" "" "" "" "Retinal dystrophy" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050315" "00050370" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050598" "00050653" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050628" "00050683" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000088310" "00088168" "1" "01824" "01824" "2016-11-24 06:55:56" "" "" "arrayCGH" "DNA" "" "" "0000328163" "00326951" "1" "00006" "00006" "2021-01-17 16:45:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000391266" "00390025" "1" "00000" "03840" "2021-11-08 12:01:50" "" "" "arrayCGH" "DNA" "" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000088310" "TBX6" "0000328163" "TBX6" "0000391266" "CLN3" ## 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 = 51 "{{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}}" "0000079295" "21" "90" "16" "29606538" "30215625" "del" "0" "00006" "FAM57B_000002" "g.29606538_30215625del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "Germline" "" "" "0" "" "" "g.29595217_30204304del" "" "pathogenic" "" "0000079578" "21" "90" "16" "29592782" "30257228" "dup" "0" "00006" "FAM57B_000004" "g.29592782_30257228dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "Germline" "" "" "0" "" "" "g.29581461_30245907dup" "" "pathogenic" "" "0000079608" "0" "90" "16" "27183151" "31888684" "dup" "0" "00006" "CLN3_000010" "g.27183151_31888684dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.33 cells" "Somatic" "" "" "0" "" "" "g.27171830_31877363dup" "" "pathogenic" "" "0000145976" "1" "90" "16" "29567295" "30178406" "del" "0" "01824" "TBX6_000007" "g.29567295_30178406del" "5/94 cases" "" "" "" "611.1kb deletion; NOTE: unclear whether breakpoint was sequenced or whether description represents the minimal or maximal extent of the deletion" "Germline" "yes" "" "0" "" "" "g.29555974_30167085del" "" "pathogenic" "" "0000145977" "1" "90" "16" "29567295" "30226930" "del" "0" "01824" "TBX6_000006" "g.29567295_30226930del" "5/94 cases" "" "" "" "NOTE: unclear whether breakpoint was sequenced or whether description represents the minimal or maximal extent of the deletion" "Germline" "yes" "" "0" "" "" "g.29555974_30215609del" "" "pathogenic" "" "0000145978" "0" "90" "16" "30100083" "30100083" "subst" "0" "01824" "TBX6_000004" "g.30100083C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.30088762C>T" "" "pathogenic" "" "0000145979" "0" "90" "16" "30102278" "30102278" "del" "0" "01824" "TBX6_000001" "g.30102278del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.30090957del" "" "pathogenic" "" "0000145980" "21" "90" "16" "30097995" "30097996" "dup" "0" "01824" "TBX6_000005" "g.30097995_30097996dup" "" "" "" "935_936insGA" "" "Germline" "yes" "" "0" "" "" "g.30086674_30086675dup" "" "pathogenic" "" "0000145981" "0" "90" "16" "30102099" "30102099" "subst" "0" "01824" "TBX6_000002" "g.30102099C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.30090778C>A" "" "pathogenic" "" "0000145982" "11" "10" "16" "30100437" "30100437" "subst" "8.15601E-6" "01824" "TBX6_000003" "g.30100437G>A" "" "" "" "" "" "Germline" "no" "" "0" "" "" "g.30089116G>A" "" "benign" "" "0000311752" "0" "30" "16" "30100401" "30100401" "subst" "0.0044264" "02325" "TBX6_000008" "g.30100401C>T" "" "" "" "TBX6(NM_004608.3):c.484G>A (p.(Gly162Ser)), TBX6(NM_004608.4):c.484G>A (p.G162S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30089080C>T" "" "likely benign" "" "0000557841" "0" "70" "16" "30098017" "30098017" "subst" "4.10607E-6" "02327" "PPP4C_000002" "g.30098017C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30086696C>T" "" "likely pathogenic" "" "0000557843" "0" "30" "16" "30099890" "30099890" "subst" "0.000982653" "01804" "PPP4C_000004" "g.30099890C>T" "" "" "" "TBX6(NM_004608.3):c.815G>A (p.(Arg272Gln)), TBX6(NM_004608.4):c.815G>A (p.R272Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30088569C>T" "" "likely benign" "" "0000557844" "0" "50" "16" "30100127" "30100127" "subst" "8.12565E-6" "02327" "PPP4C_000005" "g.30100127G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30088806G>A" "" "VUS" "" "0000557845" "0" "30" "16" "30100401" "30100401" "subst" "0.0044264" "01804" "TBX6_000008" "g.30100401C>T" "" "" "" "TBX6(NM_004608.3):c.484G>A (p.(Gly162Ser)), TBX6(NM_004608.4):c.484G>A (p.G162S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30089080C>T" "" "likely benign" "" "0000557846" "0" "30" "16" "30102391" "30102391" "subst" "0.0226673" "01804" "TBX6_000009" "g.30102391G>A" "" "" "" "TBX6(NM_004608.3):c.118+6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30091070G>A" "" "likely benign" "" "0000657817" "0" "90" "16" "30100083" "30100083" "subst" "0.000653796" "02327" "PPP4C_000006" "g.30100083C>G" "" "" "" "TBX6(NM_004608.3):c.699G>C (p.(Trp233Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30088762C>G" "" "pathogenic" "" "0000657818" "0" "50" "16" "30100295" "30100295" "subst" "0" "02327" "PPP4C_000007" "g.30100295A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30088974A>C" "" "VUS" "" "0000680522" "0" "30" "16" "30098022" "30098022" "subst" "0.00311273" "01943" "PPP4C_000008" "g.30098022G>A" "" "" "" "TBX6(NM_004608.3):c.914-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692042" "0" "30" "16" "30100038" "30100038" "subst" "0.00171369" "01943" "PPP4C_000009" "g.30100038G>A" "" "" "" "TBX6(NM_004608.3):c.744C>T (p.S248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000712087" "21" "90" "16" "30100263" "30100263" "subst" "0" "00006" "TBX6_000010" "g.30100263C>T" "1/442 cases" "{PMID:Chen 2021:33434492}, {DOI:Chen 2021:10.1016/j.ajhg.2020.12.014}" "" "" "" "Germline" "" "" "0" "" "" "g.30088942C>T" "" "pathogenic" "" "0000820998" "0" "70" "16" "28100001" "34600000" "del" "0" "00000" "CRYM_000000" "g.28100001_34600000del" "" "{PMID:Ruberto 2020:32507954}" "" "CGH array, microdeletion in 16p11.2" "zygosity not written; probable breakpoints; pathogenic in literature; genes ANKS4B,CRYM,NPIPB3,SMG1P3,RRN3P3,MIR3680-1,MIR3680-2,SLC7A5P2,LOC101927814,METTL9,IGSF6,OTOA,OTOAP1,RRN3P1,NPIPB4,NPIPB5,UQCRC2,PDZD9,MOSMO,VWA3A,EEF2K,POLR3E,CDR2,MFSD13B,HS3ST2,USP31,SCNN1G,SCNN1B,COG7,GGA2,EARS2,UBFD1,NDUFAB1,PALB2,DCTN5,PLK1,ERN2,CHP2" "Unknown" "?" "" "0" "" "" "g.28500001_35300000del" "" "likely pathogenic" "" "0000854473" "0" "30" "16" "30102406" "30102406" "subst" "0" "01804" "TBX6_000011" "g.30102406G>A" "" "" "" "TBX6(NM_004608.3):c.109C>T (p.(Arg37Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864750" "0" "30" "16" "30097589" "30097589" "subst" "8.20594E-5" "01804" "PPP4C_000010" "g.30097589G>A" "" "" "" "TBX6(NM_004608.3):c.1268C>T (p.(Ala423Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892916" "0" "30" "16" "30097581" "30097581" "subst" "5.32787E-5" "01804" "PPP4C_000011" "g.30097581C>T" "" "" "" "TBX6(NM_004608.3):c.1276G>A (p.(Gly426Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892917" "0" "30" "16" "30098102" "30098102" "subst" "1.22009E-5" "01804" "PPP4C_000012" "g.30098102C>T" "" "" "" "TBX6(NM_004608.3):c.910G>A (p.(Gly304Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892918" "0" "90" "16" "30098168" "30098168" "subst" "4.14274E-6" "02327" "PPP4C_000013" "g.30098168G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892919" "0" "50" "16" "30100083" "30100083" "subst" "0.000653796" "01804" "PPP4C_000006" "g.30100083C>G" "" "" "" "TBX6(NM_004608.3):c.699G>C (p.(Trp233Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892920" "0" "30" "16" "30100300" "30100300" "subst" "0.000622513" "02326" "PPP4C_000014" "g.30100300G>A" "" "" "" "TBX6(NM_004608.3):c.585C>T (p.V195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892921" "0" "30" "16" "30100381" "30100381" "subst" "0.000708233" "02326" "PPP4C_000015" "g.30100381C>T" "" "" "" "TBX6(NM_004608.3):c.504G>A (p.L168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892922" "0" "30" "16" "30100477" "30100477" "subst" "0.000790349" "02326" "PPP4C_000016" "g.30100477G>A" "" "" "" "TBX6(NM_004608.3):c.408C>T (p.R136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892923" "0" "50" "16" "30102211" "30102211" "subst" "4.14903E-6" "01804" "TBX6_000012" "g.30102211C>T" "" "" "" "TBX6(NM_004608.3):c.221G>A (p.(Gly74Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914605" "0" "50" "16" "30099890" "30099890" "subst" "0.000982653" "02329" "PPP4C_000004" "g.30099890C>T" "" "" "" "TBX6(NM_004608.3):c.815G>A (p.(Arg272Gln)), TBX6(NM_004608.4):c.815G>A (p.R272Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914606" "0" "70" "16" "30100529" "30100529" "subst" "4.96759E-5" "02329" "PPP4C_000017" "g.30100529C>T" "" "" "" "TBX6(NM_004608.4):c.356G>A (p.R119H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000930589" "0" "50" "16" "30100419" "30100419" "subst" "3.67188E-5" "01804" "PPP4C_000018" "g.30100419G>A" "" "" "" "TBX6(NM_004608.3):c.466C>T (p.(Arg156Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950635" "0" "50" "16" "30100082" "30100082" "subst" "0" "02325" "PPP4C_000019" "g.30100082C>T" "" "" "" "TBX6(NM_004608.4):c.700G>A (p.G234R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950636" "0" "50" "16" "30100399" "30100399" "subst" "3.26083E-5" "02326" "PPP4C_000020" "g.30100399G>A" "" "" "" "TBX6(NM_004608.3):c.486C>T (p.G162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015383" "0" "70" "16" "30097630" "30097630" "subst" "0.326515" "02327" "PPP4C_000001" "g.30097630C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001041037" "0" "50" "16" "30097560" "30097560" "subst" "1.63816E-5" "01804" "PPP4C_000021" "g.30097560T>G" "" "" "" "TBX6(NM_004608.4):c.1297A>C (p.(Lys433Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041038" "0" "50" "16" "30097759" "30097759" "subst" "9.04945E-5" "01804" "PPP4C_000022" "g.30097759C>T" "" "" "" "TBX6(NM_004608.4):c.1098G>A (p.(Arg366=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041039" "0" "50" "16" "30100276" "30100276" "del" "0" "01804" "PPP4C_000023" "g.30100276del" "" "" "" "TBX6(NM_004608.4):c.613del (p.(His205Thrfs*4))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041040" "0" "50" "16" "30102481" "30102481" "subst" "5.64058E-5" "01804" "TBX6_000013" "g.30102481C>G" "" "" "" "TBX6(NM_004608.4):c.34G>C (p.(Gly12Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055520" "0" "50" "16" "30097869" "30097869" "subst" "0" "01804" "PPP4C_000024" "g.30097869G>A" "" "" "" "TBX6(NM_004608.4):c.1061C>T (p.(Ala354Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055521" "0" "70" "16" "30099871" "30099871" "dup" "0" "02327" "PPP4C_000025" "g.30099871dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001055522" "0" "70" "16" "30099872" "30099873" "del" "0" "01804" "PPP4C_000026" "g.30099872_30099873del" "" "" "" "TBX6(NM_004608.4):c.833_834del (p.(Cys278*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001055523" "0" "70" "16" "30100394" "30100394" "subst" "0" "01804" "PPP4C_000027" "g.30100394G>A" "" "" "" "TBX6(NM_004608.4):c.491C>T (p.(Ala164Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001055524" "0" "50" "16" "30100436" "30100436" "subst" "0" "01804" "PPP4C_000028" "g.30100436C>T" "" "" "" "TBX6(NM_004608.4):c.449G>A (p.(Arg150His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055525" "0" "50" "16" "30100487" "30100487" "subst" "4.10088E-6" "01804" "PPP4C_000029" "g.30100487G>A" "" "" "" "TBX6(NM_004608.4):c.398C>T (p.(Pro133Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055526" "0" "50" "16" "30100527" "30100527" "subst" "0" "01804" "PPP4C_000030" "g.30100527T>C" "" "" "" "TBX6(NM_004608.4):c.358A>G (p.(Met120Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055527" "0" "70" "16" "30102802" "30102802" "subst" "0" "02327" "TBX6_000014" "g.30102802T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001055528" "0" "70" "16" "30103160" "30103160" "subst" "0" "02327" "TBX6_000015" "g.30103160C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely 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 TBX6 ## Count = 51 "{{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}}" "0000079295" "00020858" "00" "-112479" "0" "492320" "0" "c.-112479_*491009del" "r.0?" "p.0?" "" "0000079578" "00020858" "00" "-154083" "0" "506075" "0" "c.-154083_*504764dup" "" "" "" "0000079608" "00020858" "00" "-1785539" "0" "2915706" "0" "c.-1785539_*2914395dup" "" "" "" "0000145976" "00020858" "90" "-75261" "0" "531562" "0" "c.-75261_*530251del" "r.0" "p.0" "_1_9_" "0000145977" "00020858" "90" "-123785" "0" "531562" "0" "c.-123785_*530251del" "r.0" "p.0" "_1_9_" "0000145978" "00020858" "90" "699" "0" "699" "0" "c.699G>A" "r.(?)" "p.(Trp233*)" "5" "0000145979" "00020858" "90" "156" "0" "156" "0" "c.156del" "r.(?)" "p.(Met53Trpfs*41)" "3" "0000145980" "00020858" "90" "934" "0" "935" "0" "c.934_935dup" "r.(?)" "p.(Asp312Glufs*187)" "8" "0000145981" "00020858" "90" "333" "0" "333" "0" "c.333G>T" "r.(?)" "p.(Met111Ile)" "3" "0000145982" "00020858" "10" "448" "0" "448" "0" "c.448C>T" "r.(?)" "p.(Arg150Cys)" "4" "0000311752" "00020858" "30" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Gly162Ser)" "" "0000557841" "00020858" "70" "914" "-1" "914" "-1" "c.914-1G>A" "r.spl?" "p.?" "" "0000557843" "00020858" "30" "815" "0" "815" "0" "c.815G>A" "r.(?)" "p.(Arg272Gln)" "" "0000557844" "00020858" "50" "655" "0" "655" "0" "c.655C>T" "r.(?)" "p.(Arg219Cys)" "" "0000557845" "00020858" "30" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Gly162Ser)" "" "0000557846" "00020858" "30" "118" "6" "118" "6" "c.118+6C>T" "r.(=)" "p.(=)" "" "0000657817" "00020858" "90" "699" "0" "699" "0" "c.699G>C" "r.(?)" "p.(Trp233Cys)" "" "0000657818" "00020858" "50" "590" "0" "590" "0" "c.590T>G" "r.(?)" "p.(Leu197Arg)" "" "0000680522" "00020858" "30" "914" "-6" "914" "-6" "c.914-6C>T" "r.(=)" "p.(=)" "" "0000692042" "00020858" "30" "744" "0" "744" "0" "c.744C>T" "r.(?)" "p.(Ser248=)" "" "0000712087" "00020858" "90" "621" "1" "621" "1" "c.621+1G>A" "r.spl" "p.?" "" "0000820998" "00020858" "70" "-4496855" "0" "1998856" "0" "c.-4496855_*1997545del" "r.0?" "p.0?" "" "0000854473" "00020858" "30" "109" "0" "109" "0" "c.109C>T" "r.(?)" "p.(Arg37Cys)" "" "0000864750" "00020858" "30" "1268" "0" "1268" "0" "c.1268C>T" "r.(?)" "p.(Ala423Val)" "" "0000892916" "00020858" "30" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Gly426Ser)" "" "0000892917" "00020858" "30" "910" "0" "910" "0" "c.910G>A" "r.(?)" "p.(Gly304Arg)" "" "0000892918" "00020858" "90" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Arg282*)" "" "0000892919" "00020858" "50" "699" "0" "699" "0" "c.699G>C" "r.(?)" "p.(Trp233Cys)" "" "0000892920" "00020858" "30" "585" "0" "585" "0" "c.585C>T" "r.(?)" "p.(Val195=)" "" "0000892921" "00020858" "30" "504" "0" "504" "0" "c.504G>A" "r.(?)" "p.(Leu168=)" "" "0000892922" "00020858" "30" "408" "0" "408" "0" "c.408C>T" "r.(?)" "p.(Arg136=)" "" "0000892923" "00020858" "50" "221" "0" "221" "0" "c.221G>A" "r.(?)" "p.(Gly74Asp)" "" "0000914605" "00020858" "50" "815" "0" "815" "0" "c.815G>A" "r.(?)" "p.(Arg272Gln)" "" "0000914606" "00020858" "70" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Arg119His)" "" "0000930589" "00020858" "50" "466" "0" "466" "0" "c.466C>T" "r.(?)" "p.(Arg156Trp)" "" "0000950635" "00020858" "50" "700" "0" "700" "0" "c.700G>A" "r.(?)" "p.(Gly234Arg)" "" "0000950636" "00020858" "50" "486" "0" "486" "0" "c.486C>T" "r.(?)" "p.(=)" "" "0001015383" "00020858" "70" "1227" "0" "1227" "0" "c.1227G>A" "r.(?)" "p.(Pro409=)" "" "0001041037" "00020858" "50" "1297" "0" "1297" "0" "c.1297A>C" "r.(?)" "p.(Lys433Gln)" "" "0001041038" "00020858" "50" "1098" "0" "1098" "0" "c.1098G>A" "r.(?)" "p.(=)" "" "0001041039" "00020858" "50" "613" "0" "613" "0" "c.613del" "r.(?)" "p.(His205Thrfs*4)" "" "0001041040" "00020858" "50" "34" "0" "34" "0" "c.34G>C" "r.(?)" "p.(Gly12Arg)" "" "0001055520" "00020858" "50" "1061" "0" "1061" "0" "c.1061C>T" "r.(?)" "p.(Ala354Val)" "" "0001055521" "00020858" "70" "834" "0" "834" "0" "c.834dup" "r.(?)" "p.(Lys279*)" "" "0001055522" "00020858" "70" "833" "0" "834" "0" "c.833_834del" "r.(?)" "p.(Cys278*)" "" "0001055523" "00020858" "70" "491" "0" "491" "0" "c.491C>T" "r.(?)" "p.(Ala164Val)" "" "0001055524" "00020858" "50" "449" "0" "449" "0" "c.449G>A" "r.(?)" "p.(Arg150His)" "" "0001055525" "00020858" "50" "398" "0" "398" "0" "c.398C>T" "r.(?)" "p.(Pro133Leu)" "" "0001055526" "00020858" "50" "358" "0" "358" "0" "c.358A>G" "r.(?)" "p.(Met120Val)" "" "0001055527" "00020858" "70" "-48" "-240" "-48" "-240" "c.-48-240A>G" "r.(=)" "p.(=)" "" "0001055528" "00020858" "70" "-49" "34" "-49" "34" "c.-49+34G>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000050315" "0000079295" "0000050598" "0000079578" "0000050628" "0000079608" "0000088310" "0000145976" "0000328163" "0000712087" "0000391266" "0000820998"