### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GATA3) # 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}}" "GATA3" "GATA binding protein 3" "10" "p15" "unknown" "NG_015859.1" "UD_132085373980" "" "http://www.LOVD.nl/GATA3" "" "1" "4172" "2625" "131320" "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/GATA3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-02-18 04:01:24" "00000" "2025-07-08 13:22:38" ## 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}}" "00008368" "GATA3" "transcript variant 1" "001" "NM_001002295.1" "" "NP_001002295.1" "" "" "" "-557" "2513" "1335" "8096667" "8117164" "" "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" "01389" "HDR" "hypoparathyroidism, sensorineural deafness, and renal dysplasia" "AD" "146255" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GATA3" "01389" ## Individuals ## Do not remove or alter this header ## ## Count = 67 "{{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}}" "00059024" "" "" "" "1" "" "01542" "Karen Avraham laboratory, Tel Aviv university, Israel, unpublished" "" "" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00132980" "" "" "" "1" "" "00006" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "" "F" "" "" "" "0" "" "" "" "29100090-FamDC2" "00284156" "" "" "" "1" "" "00004" "{PMID:Al-Shibli 2011:21399899}" "" "" "" "" "" "0" "" "" "" "" "00284157" "" "" "" "1" "" "00004" "{PMID:Ali 2007:17210674}" "" "" "" "" "" "0" "" "" "" "" "00284158" "" "" "" "1" "" "00004" "{PMID:Ferraris 2009:19248180}" "" "" "" "" "" "0" "" "" "" "" "00284159" "" "" "" "1" "" "00004" "{PMID:Shim 2015:25883929}" "" "" "" "" "" "0" "" "" "" "" "00284160" "" "" "" "1" "" "00004" "{PMID:Ali 2007:17210674}" "" "" "" "" "" "0" "" "" "" "" "00284161" "" "" "" "1" "" "00004" "{PMID:Adachi 2006:16509533}" "" "" "" "" "" "0" "" "" "" "" "00284162" "" "" "" "1" "" "00004" "{PMID:Saito 2009:19057839}" "" "" "" "" "" "0" "" "" "" "" "00284163" "" "" "" "1" "" "00004" "{PMID:Ali 2007:17210674}" "" "" "" "" "" "0" "" "" "" "" "00284164" "" "" "" "1" "" "00004" "{PMID:Bodian 2014:24728327}" "" "" "" "" "" "0" "" "" "" "" "00284165" "" "" "" "1" "" "00004" "{PMID:Chiu 2006:16912130}" "" "" "" "" "" "0" "" "" "" "" "00284166" "" "" "" "1" "" "00004" "{PMID:Ali 2007:17210674}" "" "" "" "" "" "0" "" "" "" "" "00284167" "" "" "" "1" "" "00004" "{PMID:Zhu 2014:25124981}" "" "" "" "" "" "0" "" "" "" "" "00284168" "" "" "" "1" "" "00004" "{PMID:Kobayashi 2006:17114920}, {PMID:Ferraris 2009:19248180}" "" "" "" "" "" "0" "" "" "" "" "00284169" "" "" "" "1" "" "00004" "{PMID:van Beelen 2014:24434941}" "" "" "" "" "" "0" "" "" "" "" "00284170" "" "" "" "1" "" "00004" "{PMID:Nanba 2013:23186964}" "" "" "" "" "" "0" "" "" "" "" "00284171" "" "" "" "1" "" "00004" "{PMID:Nesbit 2004:14985365}" "" "" "" "" "" "0" "" "" "" "" "00284172" "" "" "" "1" "" "00004" "{PMID:Nesbit 2004:14985365}" "" "" "" "" "" "0" "" "" "" "" "00284173" "" "" "" "1" "" "00004" "{PMID:Fukami 2011:21242646}" "" "" "" "" "" "0" "" "" "" "" "00284174" "" "" "" "1" "" "00004" "{PMID:Ali 2007:17210674}" "" "" "" "" "" "0" "" "" "" "" "00284175" "" "" "" "1" "" "00004" "{PMID:Mino 2005:15830275}, {PMID:Berg 2013:22995991}" "" "" "" "" "" "0" "" "" "" "" "00284176" "" "" "" "1" "" "00004" "{PMID:Fukami 2011:21242646}" "" "" "" "" "" "0" "" "" "" "" "00284177" "" "" "" "1" "" "00004" "{PMID:Ali 2007:17210674}" "" "" "" "" "" "0" "" "" "" "" "00284178" "" "" "" "1" "" "00004" "{PMID:Hwang 2014:24429398}" "" "" "" "" "" "0" "" "" "" "" "00284179" "" "" "" "1" "" "00004" "{PMID:Nakamura 2011:21157112}" "" "" "" "" "" "0" "" "" "" "" "00284180" "" "" "" "1" "" "00004" "{PMID:Gaynor 2009:19723756}" "" "" "" "" "" "0" "" "" "" "" "00284181" "" "" "" "1" "" "00004" "{PMID:Muroya 2001:11389161}" "" "" "" "" "" "0" "" "" "" "" "00284182" "" "" "" "1" "" "00004" "{PMID:Fukami 2011:21242646}" "" "" "" "" "" "0" "" "" "" "" "00284183" "" "" "" "1" "" "00004" "{PMID:Zahirieh 2005:15705923}" "" "" "" "" "" "0" "" "" "" "" "00284184" "" "" "" "1" "" "00004" "{PMID:Van Esch 2000:10935639}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00284185" "" "" "" "1" "" "00004" "{PMID:Hiramatsu 2015:25767699}" "" "" "" "" "" "0" "" "" "" "" "00284186" "" "" "" "1" "" "00004" "{PMID:Ali 2007:17210674}" "" "" "" "" "" "0" "" "" "" "" "00284187" "" "" "" "1" "" "00004" "{PMID:Hwang 2014:24429398}" "" "" "" "" "" "0" "" "" "" "" "00284188" "" "" "" "1" "" "00004" "{PMID:Muroya 2001:11389161}" "" "" "" "" "" "0" "" "" "" "" "00284189" "" "" "" "1" "" "00004" "{PMID:Chiu 2006:16912130}" "" "" "" "" "" "0" "" "" "" "" "00284190" "" "" "" "1" "" "00004" "{PMID:Berliner 2013:23188549}, {PMID:Moyer 2012:22964825}, {PMID:Sturgeon 2008:19042984}" "" "" "" "" "" "0" "" "" "" "" "00284191" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00284192" "" "" "" "1" "" "00004" "{PMID:Van Esch 2000:10935639}" "" "" "" "" "" "0" "" "" "" "" "00284193" "" "" "" "1" "" "00004" "{PMID:Chenouard 2013:23052618}" "" "" "" "" "" "0" "" "" "" "" "00284194" "" "" "" "1" "" "00004" "{PMID:Nakamura 2011:21157112}" "" "" "" "" "" "0" "" "" "" "" "00284195" "" "" "" "1" "" "00004" "{PMID:Nesbit 2004:14985365}" "" "" "" "" "" "0" "" "" "" "" "00284196" "" "" "" "1" "" "00004" "{PMID:Mitsui 2014:25137426}" "" "" "" "" "" "0" "" "" "" "" "00284197" "" "" "" "1" "" "00004" "{PMID:Nesbit 2004:14985365}" "" "" "" "" "" "0" "" "" "" "" "00284198" "" "" "" "1" "" "00004" "{PMID:Ohta 2011:21120445}" "" "" "" "" "" "0" "" "" "" "" "00284199" "" "" "" "1" "" "00004" "{PMID:Moldovan 2011:21834031}" "" "" "" "" "" "0" "" "" "" "" "00284200" "" "" "" "1" "" "00004" "{PMID:Trepanier 2004:15604628}, {PMID:Moyer 2014:24366402}, {PMID:Nelson 2013:24432435}, {PMID:Stratton 2008:18163131}, {PMID:Berliner 2007:17508274}, {PMID:Petrucelli 1993:20301425}, {PMID:Moyer 2014:24366376}" "" "" "" "" "" "0" "" "" "" "" "00284201" "" "" "" "1" "" "00004" "{PMID:Ali 2007:17210674}" "" "" "" "" "" "0" "" "" "" "" "00284202" "" "" "" "1" "" "00004" "{PMID:Fukami 2011:21242646}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00284203" "" "" "" "1" "" "00004" "{PMID:Ali 2007:17210674}" "" "" "" "" "" "0" "" "" "" "" "00284204" "" "" "" "1" "" "00004" "{PMID:Nesbit 2004:14985365}" "" "" "" "" "" "0" "" "" "" "" "00284205" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00284206" "" "" "" "1" "" "00004" "{PMID:Chiu 2006:16912130}" "" "" "" "" "" "0" "" "" "" "" "00284207" "" "" "" "1" "" "00004" "{PMID:Nesbit 2004:14985365}" "" "" "" "" "" "0" "" "" "" "" "00284208" "" "" "" "1" "" "00004" "{PMID:Nakamura 2011:21157112}" "" "" "" "" "" "0" "" "" "" "" "00284209" "" "" "" "1" "" "00004" "{PMID:Ali 2007:17210674}" "" "" "" "" "" "0" "" "" "" "" "00284210" "" "" "" "1" "" "00004" "{PMID:Muroya 2001:11389161}, {PMID:Sun 2009:19253381}" "" "" "" "" "" "0" "" "" "" "" "00284211" "" "" "" "1" "" "00004" "{PMID:Bodian 2014:24728327}" "" "" "" "" "" "0" "" "" "" "" "00284212" "" "" "" "1" "" "00004" "{PMID:Muroya 2010:19952462}" "" "" "" "" "" "0" "" "" "" "" "00284213" "" "" "" "1" "" "00004" "{PMID:Ali 2007:17210674}" "" "" "" "" "" "0" "" "" "" "" "00316079" "" "" "" "2" "" "00006" "{PMID:Heidet 2017:28566479}" "affected patient and 1st degree relative (deafness)" "" "" "France" "" "0" "" "" "" "K101" "00316115" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "" "" "" "France" "" "0" "" "" "" "K167" "00316158" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "fetus" "" "" "France" "" "0" "" "" "" "K48" "00435323" "" "" "" "1" "" "01204" "" "" "F" "no" "Egypt" "" "" "" "" "" "8300" "00443817" "" "" "" "1" "" "00006" "{PMID:Imafidon 2021:34136434}" "prenatal indication abnormal ultrasound" "F" "" "Netherlands" "" "0" "" "" "" "Pat637" "00465471" "" "" "" "1" "" "00006" "{PMID:Lin 2015:25771973}, {PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465472" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 65 "{{individualid}}" "{{diseaseid}}" "00059024" "01389" "00132980" "05342" "00284156" "05103" "00284157" "05103" "00284158" "05103" "00284159" "05103" "00284160" "05103" "00284161" "05103" "00284162" "05103" "00284163" "05103" "00284165" "05103" "00284166" "05103" "00284167" "05103" "00284168" "05103" "00284169" "05103" "00284170" "05103" "00284171" "05103" "00284172" "05103" "00284173" "05103" "00284174" "05103" "00284175" "05103" "00284176" "05103" "00284177" "05103" "00284178" "00198" "00284179" "05103" "00284180" "05103" "00284181" "05103" "00284182" "05103" "00284183" "05103" "00284184" "05103" "00284185" "05103" "00284186" "05103" "00284187" "00198" "00284188" "05103" "00284189" "05103" "00284190" "00198" "00284191" "05103" "00284192" "05103" "00284193" "05103" "00284194" "05103" "00284195" "05103" "00284196" "05103" "00284197" "05103" "00284198" "05103" "00284199" "05103" "00284200" "00198" "00284201" "05103" "00284202" "05103" "00284203" "05103" "00284204" "05103" "00284205" "05103" "00284206" "05103" "00284207" "05103" "00284208" "05103" "00284209" "05103" "00284210" "05103" "00284212" "05103" "00284213" "05103" "00316079" "05342" "00316115" "05342" "00316158" "05342" "00435323" "01389" "00443817" "00198" "00465471" "05086" "00465472" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01389, 05086, 05103, 05342 ## Count = 65 "{{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}}" "0000045613" "01389" "00059024" "01542" "Familial, autosomal dominant" "" "congenital, moderate-severe hearing loss, kidney disease" "" "" "" "" "" "" "" "" "" "" "" "0000105741" "05342" "00132980" "00006" "Familial" "" "CAKUT, renal hypoplasia left; synechiae vulvae" "" "" "" "" "" "" "" "" "" "" "" "0000216965" "00198" "00284178" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Congenital anomalies of the kidney and urinary tract" "" "0000216966" "00198" "00284187" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Congenital anomalies of the kidney and urinary tract" "" "0000216967" "00198" "00284190" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Neoplasm of ovary" "" "0000216968" "00198" "00284200" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Familial cancer of breast" "" "0000218479" "05103" "00284156" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218480" "05103" "00284157" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218481" "05103" "00284158" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218482" "05103" "00284159" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218483" "05103" "00284160" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218484" "05103" "00284161" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218485" "05103" "00284162" "00008" "Unknown" "" "hypoparathyroidism" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218486" "05103" "00284163" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218487" "05103" "00284165" "00008" "Unknown" "" "hypoparathyroidism" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218488" "05103" "00284166" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218489" "05103" "00284167" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218490" "05103" "00284168" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218491" "05103" "00284169" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218492" "05103" "00284170" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218493" "05103" "00284171" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218494" "05103" "00284172" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218495" "05103" "00284173" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218496" "05103" "00284174" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218497" "05103" "00284175" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218498" "05103" "00284176" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218499" "05103" "00284177" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218500" "05103" "00284179" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218501" "05103" "00284180" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218502" "05103" "00284181" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218503" "05103" "00284182" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218504" "05103" "00284183" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218505" "05103" "00284184" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218506" "05103" "00284185" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218507" "05103" "00284186" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218508" "05103" "00284188" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218509" "05103" "00284189" "00008" "Unknown" "" "hypoparathyroidism" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218510" "05103" "00284191" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218511" "05103" "00284192" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218512" "05103" "00284193" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218513" "05103" "00284194" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218514" "05103" "00284195" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218515" "05103" "00284196" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218516" "05103" "00284197" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218517" "05103" "00284198" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218518" "05103" "00284199" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218519" "05103" "00284201" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218520" "05103" "00284202" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218521" "05103" "00284203" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218522" "05103" "00284204" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218523" "05103" "00284205" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218524" "05103" "00284206" "00008" "Unknown" "" "hypoparathyroidism" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218525" "05103" "00284207" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218526" "05103" "00284208" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218527" "05103" "00284209" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218528" "05103" "00284210" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218529" "05103" "00284212" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218530" "05103" "00284213" "00008" "Unknown" "" "hypoparathyroidism; renal dysplasia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000239826" "05342" "00316079" "00006" "Unknown" "" "unilateral kidney agenesis; ear tag, external ear canal stenosis" "" "" "" "" "" "" "" "" "" "unilateral kidney agenesis" "" "0000239862" "05342" "00316115" "00006" "Unknown" "" "unilateral kidney agenesis; deafness, intellectual disability" "" "" "" "" "" "" "" "" "" "unilateral kidney agenesis" "" "0000239905" "05342" "00316158" "00006" "Unknown" "" "renal hypoplasia; renal dysplasia; cysts" "" "" "" "" "" "" "" "" "" "renal hypoplasia" "" "0000325519" "01389" "00435323" "01204" "Unknown" "" "hypoparathyroidism\r\nsensorineural deafness\r\nrenal dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000333094" "00198" "00443817" "00006" "Familial, autosomal dominant" "" "hydrocolpos, hyperechogenic kidneys with cysts in the renal pyramids, dysmorphic features" "" "" "" "" "" "" "" "" "HDRS" "" "" "0000351019" "05086" "00465471" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "non syndromic hearing loss" "" "0000351020" "05086" "00465472" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "non syndromic hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 67 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000058987" "00059024" "1" "01542" "01542" "2016-02-15 20:15:08" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000133814" "00132980" "1" "00006" "00006" "2017-11-11 21:33:23" "" "" "SEQ" "DNA" "" "WES" "0000285306" "00284156" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285307" "00284157" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285308" "00284158" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285309" "00284159" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285310" "00284160" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285311" "00284161" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285312" "00284162" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285313" "00284163" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285314" "00284164" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285315" "00284165" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285316" "00284166" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285317" "00284167" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285318" "00284168" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285319" "00284169" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285320" "00284170" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285321" "00284171" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285322" "00284172" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285323" "00284173" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285324" "00284174" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285325" "00284175" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285326" "00284176" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285327" "00284177" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285328" "00284178" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285329" "00284179" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285330" "00284180" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285331" "00284181" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285332" "00284182" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285333" "00284183" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285334" "00284184" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285335" "00284185" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285336" "00284186" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285337" "00284187" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285338" "00284188" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285339" "00284189" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285340" "00284190" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285341" "00284191" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285342" "00284192" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285343" "00284193" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285344" "00284194" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285345" "00284195" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285346" "00284196" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285347" "00284197" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285348" "00284198" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285349" "00284199" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285350" "00284200" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285351" "00284201" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285352" "00284202" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285353" "00284203" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285354" "00284204" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285355" "00284205" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285356" "00284206" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285357" "00284207" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285358" "00284208" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285359" "00284209" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285360" "00284210" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285361" "00284211" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285362" "00284212" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285363" "00284213" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000317261" "00316079" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000317297" "00316115" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000317340" "00316158" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000436803" "00435323" "1" "01204" "01204" "2023-07-03 20:04:29" "" "" "SEQ" "DNA" "" "" "0000445314" "00443817" "1" "00006" "00006" "2023-12-03 11:44:16" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000467120" "00465471" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467121" "00465472" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 65 "{{screeningid}}" "{{geneid}}" "0000133814" "GATA3" "0000285306" "GATA3" "0000285307" "GATA3" "0000285308" "GATA3" "0000285309" "GATA3" "0000285310" "GATA3" "0000285311" "GATA3" "0000285312" "GATA3" "0000285313" "GATA3" "0000285314" "GATA3" "0000285315" "GATA3" "0000285316" "GATA3" "0000285317" "GATA3" "0000285318" "GATA3" "0000285319" "GATA3" "0000285320" "GATA3" "0000285321" "GATA3" "0000285322" "GATA3" "0000285323" "GATA3" "0000285324" "GATA3" "0000285325" "GATA3" "0000285326" "GATA3" "0000285327" "GATA3" "0000285328" "GATA3" "0000285329" "GATA3" "0000285330" "GATA3" "0000285331" "GATA3" "0000285332" "GATA3" "0000285333" "GATA3" "0000285334" "GATA3" "0000285335" "GATA3" "0000285336" "GATA3" "0000285337" "GATA3" "0000285338" "GATA3" "0000285339" "GATA3" "0000285340" "GATA3" "0000285341" "GATA3" "0000285342" "GATA3" "0000285343" "GATA3" "0000285344" "GATA3" "0000285345" "GATA3" "0000285346" "GATA3" "0000285347" "GATA3" "0000285348" "GATA3" "0000285349" "GATA3" "0000285350" "GATA3" "0000285351" "GATA3" "0000285352" "GATA3" "0000285353" "GATA3" "0000285354" "GATA3" "0000285355" "GATA3" "0000285356" "GATA3" "0000285357" "GATA3" "0000285358" "GATA3" "0000285359" "GATA3" "0000285360" "GATA3" "0000285361" "GATA3" "0000285362" "GATA3" "0000285363" "GATA3" "0000317261" "GATA3" "0000317297" "GATA3" "0000317297" "HIC1" "0000317340" "GATA3" "0000317340" "TBX18" "0000436803" "GATA3" ## 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 = 115 "{{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}}" "0000089788" "20" "90" "10" "8100707" "8100708" "ins" "0" "01542" "GATA3_000001" "g.8100707_8100708ins[8100673_8100684;CCACCT;8100691_8100707]" "" "" "" "insACCACCCCATCGCACTCACCCGCCCTACGTGCCC" "not in 222 controls" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000223242" "0" "90" "10" "8106049" "8106050" "del" "0" "00006" "GATA3_000002" "g.8106049_8106050del" "" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "" "872_873delAT" "" "Germline" "" "" "0" "" "" "g.8064086_8064087del" "" "pathogenic" "" "0000249145" "0" "10" "10" "8115686" "8115686" "del" "0" "02325" "GATA3_000005" "g.8115686del" "" "" "" "GATA3(NM_001002295.2):c.1051-16delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8073723del" "" "benign" "" "0000252624" "0" "90" "10" "8115700" "8115700" "subst" "0" "02326" "GATA3_000006" "g.8115700A>G" "" "" "" "GATA3(NM_001002295.2):c.1051-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8073737A>G" "" "pathogenic" "" "0000284587" "0" "50" "10" "8115750" "8115750" "subst" "0" "02326" "GATA3_000007" "g.8115750C>T" "" "" "" "GATA3(NM_001002295.2):c.1099C>T (p.R367*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8073787C>T" "" "VUS" "" "0000284588" "0" "10" "10" "8115908" "8115908" "subst" "0.0301423" "02326" "GATA3_000009" "g.8115908G>A" "" "" "" "GATA3(NM_001002295.2):c.1257G>A (p.(Thr419=), p.T419=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8073945G>A" "" "benign" "" "0000284589" "0" "90" "10" "8100362" "8100362" "subst" "0" "02326" "GATA3_000003" "g.8100362G>A" "" "" "" "GATA3(NM_001002295.2):c.336G>A (p.W112*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8058399G>A" "" "pathogenic" "" "0000284590" "0" "90" "10" "8111471" "8111471" "subst" "0" "02326" "GATA3_000004" "g.8111471C>A" "" "" "" "GATA3(NM_001002295.2):c.960C>A (p.N320K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8069508C>A" "" "pathogenic" "" "0000338805" "0" "10" "10" "8097368" "8097368" "subst" "0" "02327" "GATA3_000014" "g.8097368G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8055405G>A" "" "benign" "" "0000339063" "0" "50" "10" "8105977" "8105977" "subst" "0" "02327" "GATA3_000011" "g.8105977G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8064014G>A" "" "VUS" "" "0000340480" "0" "10" "10" "8100647" "8100647" "subst" "0.0480983" "02327" "GATA3_000017" "g.8100647C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8058684C>T" "" "benign" "" "0000341342" "0" "70" "10" "8106036" "8106036" "subst" "0" "02327" "GATA3_000012" "g.8106036G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8064073G>A" "" "likely pathogenic" "" "0000342742" "0" "90" "10" "8115750" "8115750" "subst" "0" "02327" "GATA3_000007" "g.8115750C>T" "" "" "" "GATA3(NM_001002295.2):c.1099C>T (p.R367*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8073787C>T" "" "pathogenic" "" "0000348296" "0" "90" "10" "8100695" "8100695" "dup" "0" "02327" "GATA3_000010" "g.8100695dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8058732dup" "" "pathogenic" "" "0000350029" "0" "90" "10" "8106050" "8106050" "subst" "0" "02327" "GATA3_000013" "g.8106050T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8064087T>A" "" "pathogenic" "" "0000350163" "0" "90" "10" "8097810" "8097810" "subst" "0" "02327" "GATA3_000015" "g.8097810C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8055847C>A" "" "pathogenic" "" "0000541076" "0" "30" "10" "8100506" "8100506" "subst" "0.000288227" "02327" "GATA3_000019" "g.8100506C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8058543C>G" "" "likely benign" "" "0000541077" "0" "50" "10" "8100750" "8100750" "subst" "0.000150083" "01943" "GATA3_000020" "g.8100750G>A" "" "" "" "GATA3(NM_001002295.1):c.724G>A (p.G242S), GATA3(NM_001002295.2):c.724G>A (p.G242S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8058787G>A" "" "VUS" "" "0000541078" "0" "90" "10" "8106102" "8106102" "subst" "0" "01943" "GATA3_000021" "g.8106102G>A" "" "" "" "GATA3(NM_001002295.1):c.924+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8064139G>A" "" "pathogenic" "" "0000541081" "0" "30" "10" "8115926" "8115926" "subst" "8.12975E-5" "01943" "GATA3_000024" "g.8115926G>A" "" "" "" "GATA3(NM_001002295.1):c.1275G>A (p.P425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8073963G>A" "" "likely benign" "" "0000612690" "0" "50" "10" "8100286" "8100286" "subst" "0" "02327" "GATA3_000025" "g.8100286C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8058323C>A" "" "VUS" "" "0000622435" "0" "50" "10" "8100330" "8100330" "subst" "1.22853E-5" "01943" "GATA3_000026" "g.8100330G>T" "" "" "" "GATA3(NM_001002295.1):c.304G>T (p.A102S), GATA3(NM_001002295.2):c.304G>T (p.(Ala102Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8058367G>T" "" "VUS" "" "0000641048" "1" "99" "10" "8097653" "8097654" "del" "0" "00004" "GATA3_000027" "g.8097653_8097654del" "" "{DB:DVD}, {PMID:Al-Shibli 2011:21399899}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8055690_8055691del" "" "pathogenic" "" "0000641049" "1" "99" "10" "8097682" "8097682" "subst" "0" "00004" "GATA3_000028" "g.8097682C>T" "" "{DB:DVD}, {PMID:Ali 2007:17210674}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8055719C>T" "" "pathogenic" "" "0000641050" "1" "99" "10" "8097726" "8097727" "del" "0" "00004" "GATA3_000029" "g.8097726_8097727del" "" "{DB:DVD}, {PMID:Ferraris 2009:19248180}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8055763_8055764del" "" "pathogenic" "" "0000641051" "1" "99" "10" "8100278" "8100281" "dup" "0" "00004" "GATA3_000030" "g.8100278_8100281dup" "" "{DB:DVD}, {PMID:Shim 2015:25883929}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8058315_8058318dup" "" "pathogenic" "" "0000641052" "1" "99" "10" "8100430" "8100430" "del" "0" "00004" "GATA3_000016" "g.8100430del" "" "{DB:DVD}, {PMID:Ali 2007:17210674}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8058467del" "" "pathogenic" "" "0000641053" "1" "99" "10" "8100430" "8100430" "dup" "0" "00004" "GATA3_000031" "g.8100430dup" "" "{DB:DVD}, {PMID:Adachi 2006:16509533}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8058467dup" "" "pathogenic" "" "0000641054" "1" "99" "10" "8100457" "8100457" "dup" "0" "00004" "GATA3_000032" "g.8100457dup" "" "{DB:DVD}, {PMID:Saito 2009:19057839}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8058494dup" "" "pathogenic" "" "0000641055" "1" "99" "10" "8100457" "8100457" "del" "0" "00004" "GATA3_000033" "g.8100457del" "" "{DB:DVD}, {PMID:Ali 2007:17210674}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8058494del" "" "pathogenic" "" "0000641056" "1" "55" "10" "8100474" "8100474" "subst" "2.46575E-5" "00004" "GATA3_000034" "g.8100474C>A" "" "{DB:DVD}, {PMID:Bodian 2014:24728327}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8058511C>A" "" "VUS" "" "0000641057" "1" "99" "10" "8100504" "8100504" "del" "0" "00004" "GATA3_000035" "g.8100504del" "" "{DB:DVD}, {PMID:Chiu 2006:16912130}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8058541del" "" "pathogenic" "" "0000641058" "1" "99" "10" "8100516" "8100516" "del" "0" "00004" "GATA3_000036" "g.8100516del" "" "{DB:DVD}, {PMID:Ali 2007:17210674}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8058553del" "" "pathogenic" "" "0000641059" "1" "99" "10" "8100541" "8100541" "subst" "0" "00004" "GATA3_000037" "g.8100541C>A" "" "{DB:DVD}, {PMID:Zhu 2014:25124981}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8058578C>A" "" "pathogenic" "" "0000641060" "1" "99" "10" "8100543" "8100543" "del" "0" "00004" "GATA3_000038" "g.8100543del" "" "{DB:DVD}, {PMID:Kobayashi 2006:17114920}, {PMID:Ferraris 2009:19248180}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8058580del" "" "pathogenic" "" "0000641061" "1" "99" "10" "8100549" "8100554" "dup" "0" "00004" "GATA3_000039" "g.8100549_8100554dup" "" "{DB:DVD}, {PMID:van Beelen 2014:24434941}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8058586_8058591dup" "" "pathogenic" "" "0000641062" "1" "99" "10" "8100619" "8100619" "subst" "0" "00004" "GATA3_000040" "g.8100619C>A" "" "{DB:DVD}, {PMID:Nanba 2013:23186964}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8058656C>A" "" "pathogenic" "" "0000641063" "1" "99" "10" "8100630" "8100630" "del" "0" "00004" "GATA3_000041" "g.8100630del" "" "{DB:DVD}, {PMID:Nesbit 2004:14985365}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8058667del" "" "pathogenic" "" "0000641064" "1" "99" "10" "8100708" "8100708" "subst" "0" "00004" "GATA3_000042" "g.8100708G>T" "" "{DB:DVD}, {PMID:Nesbit 2004:14985365}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8058745G>T" "" "pathogenic" "" "0000641065" "1" "99" "10" "8100726" "8100727" "delins" "0" "00004" "GATA3_000043" "g.8100726_8100727delinsCTC" "" "{DB:DVD}, {PMID:Fukami 2011:21242646}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8058763_8058764delinsCTC" "" "pathogenic" "" "0000641066" "1" "99" "10" "8100734" "8100734" "del" "0" "00004" "GATA3_000044" "g.8100734del" "" "{DB:DVD}, {PMID:Ali 2007:17210674}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8058771del" "" "pathogenic" "" "0000641067" "1" "99" "10" "8100734" "8100734" "dup" "0" "00004" "GATA3_000045" "g.8100734dup" "" "{DB:DVD}, {PMID:Mino 2005:15830275}, {PMID:Berg 2013:22995991}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8058771dup" "" "pathogenic" "" "0000641068" "1" "99" "10" "8100763" "8100763" "dup" "0" "00004" "GATA3_000046" "g.8100763dup" "" "{DB:DVD}, {PMID:Fukami 2011:21242646}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8058800dup" "" "pathogenic" "" "0000641069" "1" "99" "10" "8100768" "8100768" "subst" "0" "00004" "GATA3_000047" "g.8100768G>T" "" "{DB:DVD}, {PMID:Ali 2007:17210674}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8058805G>T" "" "pathogenic" "" "0000641070" "1" "99" "10" "8100792" "8100792" "subst" "0" "00004" "GATA3_000048" "g.8100792C>G" "" "{DB:DVD}, {PMID:Hwang 2014:24429398}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8058829C>G" "" "pathogenic" "" "0000641071" "1" "99" "10" "8105961" "8105961" "subst" "0" "00004" "GATA3_000049" "g.8105961A>G" "" "{DB:DVD}, {PMID:Nakamura 2011:21157112}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8063998A>G" "" "pathogenic" "" "0000641072" "1" "99" "10" "8105992" "8105992" "subst" "0" "00004" "GATA3_000050" "g.8105992C>T" "" "{DB:DVD}, {PMID:Gaynor 2009:19723756}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8064029C>T" "" "pathogenic" "" "0000641073" "1" "99" "10" "8106000" "8106000" "subst" "0" "00004" "GATA3_000051" "g.8106000T>A" "" "{DB:DVD}, {PMID:Muroya 2001:11389161}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8064037T>A" "" "pathogenic" "" "0000641074" "1" "99" "10" "8106001" "8106001" "subst" "0" "00004" "GATA3_000052" "g.8106001G>T" "" "{DB:DVD}, {PMID:Fukami 2011:21242646}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8064038G>T" "" "pathogenic" "" "0000641075" "1" "99" "10" "8106004" "8106004" "subst" "0" "00004" "GATA3_000053" "g.8106004G>C" "" "{DB:DVD}, {PMID:Zahirieh 2005:15705923}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8064041G>C" "" "pathogenic" "" "0000641076" "1" "99" "10" "8106006" "8106006" "subst" "0" "00004" "GATA3_000054" "g.8106006C>T" "" "{DB:DVD}, {PMID:Van Esch 2000:10935639}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8064043C>T" "" "pathogenic" "" "0000641077" "1" "99" "10" "8106042" "8106042" "subst" "0" "00004" "GATA3_000055" "g.8106042G>A" "" "{DB:DVD}, {PMID:Hiramatsu 2015:25767699}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8064079G>A" "" "pathogenic" "" "0000641078" "1" "99" "10" "8106060" "8106063" "del" "0" "00004" "GATA3_000056" "g.8106060_8106063del" "" "{DB:DVD}, {PMID:Ali 2007:17210674}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8064097_8064100del" "" "pathogenic" "" "0000641079" "1" "99" "10" "8106066" "8106066" "subst" "0" "00004" "GATA3_000057" "g.8106066C>A" "" "{DB:DVD}, {PMID:Hwang 2014:24429398}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8064103C>A" "" "pathogenic" "" "0000641080" "1" "99" "10" "8106078" "8106078" "delins" "0" "00004" "GATA3_000058" "g.8106078delinsAACCCT" "" "{DB:DVD}, {PMID:Muroya 2001:11389161}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8064115delinsAACCCT" "" "pathogenic" "" "0000641081" "1" "99" "10" "8106103" "8106103" "delins" "0" "00004" "GATA3_000059" "g.8106103delinsGCTTACTTCCC" "" "{DB:DVD}, {PMID:Chiu 2006:16912130}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8064140delinsGCTTACTTCCC" "" "pathogenic" "" "0000641082" "1" "55" "10" "8111420" "8111420" "subst" "0" "00004" "GATA3_000060" "g.8111420C>T" "" "{DB:DVD}, {PMID:Berliner 2013:23188549}, {PMID:Moyer 2012:22964825}, {PMID:Sturgeon 2008:19042984}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8069457C>T" "" "VUS" "" "0000641083" "1" "99" "10" "8111433" "8111434" "del" "0" "00004" "GATA3_000061" "g.8111433_8111434del" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8069470_8069471del" "" "pathogenic" "" "0000641084" "1" "99" "10" "8111458" "8111469" "del" "0" "00004" "GATA3_000062" "g.8111458_8111469del" "" "{DB:DVD}, {PMID:Van Esch 2000:10935639}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8069495_8069506del" "" "pathogenic" "" "0000641085" "1" "99" "10" "8111462" "8111462" "del" "0" "00004" "GATA3_000063" "g.8111462del" "" "{DB:DVD}, {PMID:Chenouard 2013:23052618}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8069499del" "" "pathogenic" "" "0000641086" "1" "99" "10" "8111463" "8111463" "subst" "0" "00004" "GATA3_000064" "g.8111463T>A" "" "{DB:DVD}, {PMID:Nakamura 2011:21157112}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8069500T>A" "" "pathogenic" "" "0000641087" "1" "99" "10" "8111463" "8111463" "subst" "0" "00004" "GATA3_000065" "g.8111463T>C" "" "{DB:DVD}, {PMID:Nesbit 2004:14985365}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8069500T>C" "" "pathogenic" "" "0000641088" "1" "99" "10" "8111464" "8111464" "subst" "0" "00004" "GATA3_000066" "g.8111464G>A" "" "{DB:DVD}, {PMID:Mitsui 2014:25137426}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8069501G>A" "" "pathogenic" "" "0000641089" "1" "99" "10" "8111471" "8111471" "subst" "0" "00004" "GATA3_000004" "g.8111471C>A" "" "{DB:DVD}, {PMID:Nesbit 2004:14985365}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8069508C>A" "" "pathogenic" "" "0000641090" "1" "99" "10" "8111473" "8111473" "subst" "4.06081E-6" "00004" "GATA3_000067" "g.8111473G>C" "" "{DB:DVD}, {PMID:Ohta 2011:21120445}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8069510G>C" "" "pathogenic" "" "0000641091" "1" "99" "10" "8111536" "8111536" "subst" "0" "00004" "GATA3_000068" "g.8111536G>A" "" "{DB:DVD}, {PMID:Moldovan 2011:21834031}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8069573G>A" "" "pathogenic" "" "0000641092" "1" "55" "10" "8111543" "8111543" "subst" "0" "00004" "GATA3_000069" "g.8111543C>T" "" "{DB:DVD}, {PMID:Trepanier 2004:15604628}, {PMID:Moyer 2014:24366402}, {PMID:Nelson 2013:24432435}, {PMID:Stratton 2008:18163131}, {PMID:Berliner 2007:17508274}, {PMID:Petrucelli 1993:20301425}, {PMID:Moyer 2014:24366376}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8069580C>T" "" "VUS" "" "0000641093" "1" "99" "10" "8111554" "8111554" "subst" "0" "00004" "GATA3_000070" "g.8111554T>G" "" "{DB:DVD}, {PMID:Ali 2007:17210674}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8069591T>G" "" "pathogenic" "" "0000641094" "1" "99" "10" "8111562" "8111562" "subst" "0" "00004" "GATA3_000071" "g.8111562G>C" "" "{DB:DVD}, {PMID:Fukami 2011:21242646}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8069599G>C" "" "pathogenic" "" "0000641095" "1" "99" "10" "8115700" "8115700" "subst" "0" "00004" "GATA3_000006" "g.8115700A>G" "" "{DB:DVD}, {PMID:Ali 2007:17210674}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8073737A>G" "" "pathogenic" "" "0000641096" "1" "99" "10" "8115701" "8115701" "subst" "0" "00004" "GATA3_000072" "g.8115701G>T" "" "{DB:DVD}, {PMID:Nesbit 2004:14985365}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8073738G>T" "" "pathogenic" "" "0000641097" "1" "99" "10" "8115708" "8115708" "subst" "0" "00004" "GATA3_000073" "g.8115708A>T" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8073745A>T" "" "pathogenic" "" "0000641098" "1" "99" "10" "8115710" "8115710" "subst" "0" "00004" "GATA3_000074" "g.8115710A>T" "" "{DB:DVD}, {PMID:Chiu 2006:16912130}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8073747A>T" "" "pathogenic" "" "0000641099" "1" "99" "10" "8115714" "8115715" "del" "0" "00004" "GATA3_000076" "g.8115714_8115715del" "" "{DB:DVD}, {PMID:Nesbit 2004:14985365}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8073751_8073752del" "" "pathogenic" "" "0000641100" "1" "99" "10" "8115714" "8115714" "del" "0" "00004" "GATA3_000075" "g.8115714del" "" "{DB:DVD}, {PMID:Nakamura 2011:21157112}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8073751del" "" "pathogenic" "" "0000641101" "1" "99" "10" "8115715" "8115715" "del" "0" "00004" "GATA3_000077" "g.8115715del" "" "{DB:DVD}, {PMID:Ali 2007:17210674}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8073752del" "" "pathogenic" "" "0000641102" "1" "99" "10" "8115750" "8115750" "subst" "0" "00004" "GATA3_000007" "g.8115750C>T" "" "{DB:DVD}, {PMID:Muroya 2001:11389161}, {PMID:Sun 2009:19253381}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8073787C>T" "" "pathogenic" "" "0000641103" "1" "55" "10" "8115837" "8115837" "subst" "0.000166506" "00004" "GATA3_000078" "g.8115837G>A" "" "{DB:DVD}, {PMID:Bodian 2014:24728327}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8073874G>A" "" "VUS" "" "0000641104" "1" "99" "10" "8115851" "8115852" "del" "0" "00004" "GATA3_000079" "g.8115851_8115852del" "" "{DB:DVD}, {PMID:Muroya 2010:19952462}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8073888_8073889del" "" "pathogenic" "" "0000641105" "1" "99" "10" "8115872" "8115872" "dup" "0" "00004" "GATA3_000080" "g.8115872dup" "" "{DB:DVD}, {PMID:Ali 2007:17210674}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.8073909dup" "" "pathogenic" "" "0000656571" "0" "10" "10" "8096882" "8096882" "dup" "0" "02326" "GATA3_000081" "g.8096882dup" "" "" "" "GATA3(NM_001002295.2):c.-370+28dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8054919dup" "" "benign" "" "0000656572" "0" "70" "10" "8100734" "8100734" "dup" "0" "02327" "GATA3_000045" "g.8100734dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8058771dup" "" "likely pathogenic" "" "0000656573" "0" "90" "10" "8106093" "8106093" "subst" "0" "02327" "GATA3_000082" "g.8106093C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8064130C>T" "" "pathogenic" "" "0000656575" "0" "90" "10" "8111541" "8111541" "subst" "0" "02327" "GATA3_000083" "g.8111541C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8069578C>T" "" "pathogenic" "" "0000690796" "0" "30" "10" "8097687" "8097687" "subst" "0.000105216" "02326" "GATA3_000084" "g.8097687C>T" "" "" "" "GATA3(NM_001002295.2):c.69C>T (p.H23=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690797" "0" "30" "10" "8106017" "8106017" "subst" "0.000272086" "01943" "GATA3_000085" "g.8106017G>C" "" "" "" "GATA3(NM_001002295.1):c.840G>C (p.T280=), GATA3(NM_001002295.2):c.840G>C (p.T280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690798" "0" "30" "10" "8106017" "8106017" "subst" "0.000272086" "02326" "GATA3_000085" "g.8106017G>C" "" "" "" "GATA3(NM_001002295.1):c.840G>C (p.T280=), GATA3(NM_001002295.2):c.840G>C (p.T280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000699785" "0" "90" "10" "0" "0" "" "0" "00006" "CYP2C9_001038" "g.?" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000699821" "0" "90" "10" "0" "0" "" "0" "00006" "CYP2C9_001038" "g.?" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000699864" "0" "90" "10" "8106006" "8106006" "subst" "0" "00006" "GATA3_000054" "g.8106006C>T" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "g.8064043C>T" "" "pathogenic" "" "0000722953" "0" "30" "10" "8100763" "8100763" "subst" "0.000878646" "01943" "GATA3_000086" "g.8100763G>C" "" "" "" "GATA3(NM_001002295.1):c.737G>C (p.G246A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722954" "0" "50" "10" "8111500" "8111500" "subst" "0" "02329" "GATA3_000087" "g.8111500G>A" "" "" "" "GATA3(NM_002051.3):c.986G>A (p.R329K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722955" "0" "70" "10" "8111533" "8111533" "subst" "0" "02329" "GATA3_000022" "g.8111533C>T" "" "" "" "GATA3(NM_001002295.2):c.1022C>T (p.A341V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000722956" "0" "30" "10" "8111580" "8111580" "subst" "0.000606258" "02326" "GATA3_000088" "g.8111580G>A" "" "" "" "GATA3(NM_001002295.2):c.1050+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804580" "0" "50" "10" "8097781" "8097781" "subst" "0" "01943" "GATA3_000089" "g.8097781G>A" "" "" "" "GATA3(NM_001002295.1):c.163G>A (p.G55S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804581" "0" "30" "10" "8097834" "8097834" "subst" "0.000801176" "01943" "GATA3_000090" "g.8097834G>T" "" "" "" "GATA3(NM_001002295.1):c.216G>T (p.V72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804582" "0" "90" "10" "8100541" "8100541" "subst" "0" "02326" "GATA3_000037" "g.8100541C>A" "" "" "" "GATA3(NM_001002295.2):c.515C>A (p.S172*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000889262" "0" "50" "10" "8097700" "8097700" "subst" "0.000124224" "02326" "GATA3_000091" "g.8097700C>A" "" "" "" "GATA3(NM_001002295.2):c.82C>A (p.H28N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913336" "0" "30" "10" "8100320" "8100320" "subst" "0.0001146" "02326" "GATA3_000092" "g.8100320C>T" "" "" "" "GATA3(NM_001002295.2):c.294C>T (p.D98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925196" "0" "30" "10" "8100750" "8100750" "subst" "0.000150083" "02326" "GATA3_000020" "g.8100750G>A" "" "" "" "GATA3(NM_001002295.1):c.724G>A (p.G242S), GATA3(NM_001002295.2):c.724G>A (p.G242S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927946" "0" "70" "10" "8111435" "8111435" "subst" "0" "01204" "GATA3_000093" "g.8111435G>T" "" "" "" "" "experimentally confirmed on RNA produced by a minigene technique" "Germline/De novo (untested)" "" "" "0" "" "" "g.8069472G>T" "" "likely pathogenic" "ACMG" "0000952228" "21" "90" "10" "8100430" "8100430" "del" "0" "00006" "GATA3_000016" "g.8100430del" "" "{PMID:Imafidon 2021:34136434}" "" "" "" "Germline" "" "" "0" "" "" "g.8058467del" "" "pathogenic (dominant)" "" "0000965869" "0" "50" "10" "8100385" "8100385" "subst" "4.89548E-5" "02327" "GATA3_000094" "g.8100385C>T" "" "" "" "GATA3(NM_001002295.2):c.359C>T (p.(Thr120Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965870" "0" "90" "10" "8106072" "8106072" "subst" "0" "02327" "GATA3_000095" "g.8106072C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000965871" "0" "50" "10" "8115823" "8115823" "subst" "4.06085E-6" "02327" "GATA3_000096" "g.8115823C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998548" "0" "50" "10" "8100639" "8100639" "subst" "2.04005E-5" "01804" "GATA3_000097" "g.8100639A>T" "" "" "" "GATA3(NM_001002295.1):c.613A>T (p.(Met205Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014662" "0" "90" "10" "8100423" "8100423" "dup" "0" "02327" "GATA3_000098" "g.8100423dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025772" "0" "50" "10" "8111498" "8111498" "subst" "0" "02327" "GATA3_000099" "g.8111498G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038043" "0" "30" "10" "8100330" "8100330" "subst" "1.22853E-5" "01804" "GATA3_000026" "g.8100330G>T" "" "" "" "GATA3(NM_001002295.1):c.304G>T (p.A102S), GATA3(NM_001002295.2):c.304G>T (p.(Ala102Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038044" "0" "30" "10" "8100385" "8100385" "subst" "4.89548E-5" "01804" "GATA3_000094" "g.8100385C>T" "" "" "" "GATA3(NM_001002295.2):c.359C>T (p.(Thr120Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038049" "0" "30" "10" "8115908" "8115908" "subst" "0.0301423" "01804" "GATA3_000009" "g.8115908G>A" "" "" "" "GATA3(NM_001002295.2):c.1257G>A (p.(Thr419=), p.T419=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044889" "1" "90" "10" "8097771" "8097771" "del" "0" "00006" "GATA3_000100" "g.8097771del" "1/1291 cases hearing loss" "{PMID:Lin 2015:25771973}, {PMID:Wu 2019:31581539}" "" "149delT" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.8055808del" "" "pathogenic (dominant)" "" "0001044890" "1" "90" "10" "8100504" "8100504" "del" "0" "00006" "GATA3_000035" "g.8100504del" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "477delG" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.8058541del" "" "pathogenic (dominant)" "" "0001045083" "0" "90" "10" "8115910" "8115916" "del" "0" "03779" "GATA3_000101" "g.8115910_8115916del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0001046249" "0" "70" "10" "8105968" "8105968" "subst" "0" "02326" "GATA3_000102" "g.8105968G>T" "" "" "" "GATA3(NM_001002295.2):c.791G>T (p.C264F)" "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 GATA3 ## Count = 115 "{{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}}" "0000089788" "00008368" "90" "681" "0" "682" "0" "c.681_682ins[647_658;CCACCT;665_681]" "r.(?)" "p.(Glu228fs37*)" "3" "0000223242" "00008368" "90" "872" "0" "873" "0" "c.872_873del" "r.(?)" "p.(Tyr291Serfs*12)" "" "0000249145" "00008368" "10" "1051" "-16" "1051" "-16" "c.1051-16del" "r.(=)" "p.(=)" "" "0000252624" "00008368" "90" "1051" "-2" "1051" "-2" "c.1051-2A>G" "r.spl?" "p.?" "" "0000284587" "00008368" "50" "1099" "0" "1099" "0" "c.1099C>T" "r.(?)" "p.(Arg367Ter)" "" "0000284588" "00008368" "10" "1257" "0" "1257" "0" "c.1257G>A" "r.(?)" "p.(Thr419=)" "" "0000284589" "00008368" "90" "336" "0" "336" "0" "c.336G>A" "r.(?)" "p.(Trp112Ter)" "" "0000284590" "00008368" "90" "960" "0" "960" "0" "c.960C>A" "r.(?)" "p.(Asn320Lys)" "" "0000338805" "00008368" "10" "-251" "0" "-251" "0" "c.-251G>A" "r.(?)" "p.(=)" "" "0000339063" "00008368" "50" "800" "0" "800" "0" "c.800G>A" "r.(?)" "p.(Cys267Tyr)" "" "0000340480" "00008368" "10" "621" "0" "621" "0" "c.621C>T" "r.(?)" "p.(Ala207=)" "" "0000341342" "00008368" "70" "859" "0" "859" "0" "c.859G>A" "r.(?)" "p.(Ala287Thr)" "" "0000342742" "00008368" "90" "1099" "0" "1099" "0" "c.1099C>T" "r.(?)" "p.(Arg367Ter)" "" "0000348296" "00008368" "90" "669" "0" "669" "0" "c.669dup" "r.(?)" "p.(Pro224AlafsTer80)" "" "0000350029" "00008368" "90" "873" "0" "873" "0" "c.873T>A" "r.(?)" "p.(Tyr291Ter)" "" "0000350163" "00008368" "90" "192" "0" "192" "0" "c.192C>A" "r.(?)" "p.(Tyr64Ter)" "" "0000541076" "00008368" "30" "480" "0" "480" "0" "c.480C>G" "r.(?)" "p.(Asp160Glu)" "" "0000541077" "00008368" "50" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Gly242Ser)" "" "0000541078" "00008368" "90" "924" "1" "924" "1" "c.924+1G>A" "r.spl?" "p.?" "" "0000541081" "00008368" "30" "1275" "0" "1275" "0" "c.1275G>A" "r.(?)" "p.(Pro425=)" "" "0000612690" "00008368" "50" "260" "0" "260" "0" "c.260C>A" "r.(?)" "p.(Pro87Gln)" "" "0000622435" "00008368" "50" "304" "0" "304" "0" "c.304G>T" "r.(?)" "p.(Ala102Ser)" "" "0000641048" "00008368" "99" "35" "0" "36" "0" "c.35_36del" "r.(?)" "p.(Ser12Thrfs*40)" "0" "0000641049" "00008368" "99" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Gln22*)" "0" "0000641050" "00008368" "99" "108" "0" "109" "0" "c.108_109del" "r.(?)" "p.(Met36Ilefs*16)" "0" "0000641051" "00008368" "99" "252" "0" "255" "0" "c.252_255dup" "r.(?)" "p.(Arg86Valfs*219)" "0" "0000641052" "00008368" "99" "404" "0" "404" "0" "c.404del" "r.(?)" "p.(Pro135Argfs*60)" "0" "0000641053" "00008368" "99" "404" "0" "404" "0" "c.404dup" "r.(?)" "p.(Ala136Glyfs*168)" "0" "0000641054" "00008368" "99" "431" "0" "431" "0" "c.431dup" "r.(?)" "p.(His145Profs*159)" "0" "0000641055" "00008368" "99" "431" "0" "431" "0" "c.431del" "r.(?)" "p.(Gly144Alafs*51)" "0" "0000641056" "00008368" "55" "448" "0" "448" "0" "c.448C>A" "r.(?)" "p.(Leu150Ile)" "0" "0000641057" "00008368" "99" "478" "0" "478" "0" "c.478del" "r.(?)" "p.(Asp160Thrfs*35)" "0" "0000641058" "00008368" "99" "490" "0" "490" "0" "c.490del" "r.(?)" "p.(Asp164Thrfs*31)" "0" "0000641059" "00008368" "99" "515" "0" "515" "0" "c.515C>A" "r.(?)" "p.(Ser172*)" "0" "0000641060" "00008368" "99" "517" "0" "517" "0" "c.517del" "r.(?)" "p.(Ala173Profs*22)" "0" "0000641061" "00008368" "99" "523" "0" "528" "0" "c.523_528dup" "r.(?)" "p.(Ser175_Ala176dup)" "0" "0000641062" "00008368" "99" "593" "0" "593" "0" "c.593C>A" "r.(?)" "p.(Ser198*)" "0" "0000641063" "00008368" "99" "604" "0" "604" "0" "c.604del" "r.(?)" "p.(Arg202Valfs*4)" "0" "0000641064" "00008368" "99" "682" "0" "682" "0" "c.682G>T" "r.(?)" "p.(Glu228*)" "0" "0000641065" "00008368" "99" "700" "0" "701" "0" "c.700_701delinsCTC" "r.(?)" "p.(Phe234Leufs*70)" "0" "0000641066" "00008368" "99" "708" "0" "708" "0" "c.708del" "r.(?)" "p.(Ser237Alafs*29)" "0" "0000641067" "00008368" "99" "708" "0" "708" "0" "c.708dup" "r.(?)" "p.(Ser237Glnfs*67)" "0" "0000641068" "00008368" "99" "737" "0" "737" "0" "c.737dup" "r.(?)" "p.(Phe247Leufs*57)" "0" "0000641069" "00008368" "99" "742" "0" "742" "0" "c.742G>T" "r.(?)" "p.(Gly248*)" "0" "0000641070" "00008368" "99" "766" "0" "766" "0" "c.766C>G" "r.(?)" "p.(Arg256Gly)" "0" "0000641071" "00008368" "99" "784" "0" "784" "0" "c.784A>G" "r.(?)" "p.(Arg262Gly)" "0" "0000641072" "00008368" "99" "815" "0" "815" "0" "c.815C>T" "r.(?)" "p.(Thr272Ile)" "0" "0000641073" "00008368" "99" "823" "0" "823" "0" "c.823T>A" "r.(?)" "p.(Trp275Arg)" "0" "0000641074" "00008368" "99" "824" "0" "824" "0" "c.824G>T" "r.(?)" "p.(Trp275Leu)" "0" "0000641075" "00008368" "99" "827" "0" "827" "0" "c.827G>C" "r.(?)" "p.(Arg276Pro)" "0" "0000641076" "00008368" "99" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277*)" "0" "0000641077" "00008368" "99" "865" "0" "865" "0" "c.865G>A" "r.(?)" "p.(Gly289Arg)" "0" "0000641078" "00008368" "99" "883" "0" "886" "0" "c.883_886del" "r.(?)" "p.(Asn295Aspfs*60)" "0" "0000641079" "00008368" "99" "889" "0" "889" "0" "c.889C>A" "r.(?)" "p.(Gln297Lys)" "0" "0000641080" "00008368" "99" "901" "0" "901" "0" "c.901delinsAACCCT" "r.(?)" "p.(Leu301Asnfs*57)" "0" "0000641081" "00008368" "99" "924" "2" "924" "2" "c.924+2delinsGCTTACTTCCC" "r.spl?" "p.?" "0" "0000641082" "00008368" "55" "925" "-16" "925" "-16" "c.925-16C>T" "r.spl?" "p.(=)" "0" "0000641083" "00008368" "99" "925" "-3" "925" "-2" "c.925-3_925-2del" "r.spl?" "p.?" "0" "0000641084" "00008368" "99" "947" "0" "958" "0" "c.947_958del" "r.(?)" "p.(Thr316_Ala319del)" "0" "0000641085" "00008368" "99" "951" "0" "951" "0" "c.951del" "r.(?)" "p.(Cys318Valfs*38)" "0" "0000641086" "00008368" "99" "952" "0" "952" "0" "c.952T>A" "r.(?)" "p.(Cys318Ser)" "0" "0000641087" "00008368" "99" "952" "0" "952" "0" "c.952T>C" "r.(?)" "p.(Cys318Arg)" "0" "0000641088" "00008368" "99" "953" "0" "953" "0" "c.953G>A" "r.(?)" "p.(Cys318Tyr)" "0" "0000641089" "00008368" "99" "960" "0" "960" "0" "c.960C>A" "r.(?)" "p.(Asn320Lys)" "0" "0000641090" "00008368" "99" "962" "0" "962" "0" "c.962G>C" "r.(?)" "p.(Cys321Ser)" "0" "0000641091" "00008368" "99" "1025" "0" "1025" "0" "c.1025G>A" "r.(?)" "p.(Cys342Tyr)" "0" "0000641092" "00008368" "55" "1032" "0" "1032" "0" "c.1032C>T" "r.(?)" "p.(=)" "0" "0000641093" "00008368" "99" "1043" "0" "1043" "0" "c.1043T>G" "r.(?)" "p.(Leu348Arg)" "0" "0000641094" "00008368" "99" "1050" "1" "1050" "1" "c.1050+1G>C" "r.spl?" "p.?" "0" "0000641095" "00008368" "99" "1051" "-2" "1051" "-2" "c.1051-2A>G" "r.spl?" "p.?" "0" "0000641096" "00008368" "99" "1051" "-1" "1051" "-1" "c.1051-1G>T" "r.spl?" "p.?" "0" "0000641097" "00008368" "99" "1057" "0" "1057" "0" "c.1057A>T" "r.(?)" "p.(Arg353*)" "0" "0000641098" "00008368" "99" "1059" "0" "1059" "0" "c.1059A>T" "r.(?)" "p.(Arg353Ser)" "0" "0000641099" "00008368" "99" "1063" "0" "1064" "0" "c.1063_1064del" "r.(?)" "p.(Leu355Aspfs*16)" "0" "0000641100" "00008368" "99" "1063" "0" "1063" "0" "c.1063del" "r.(?)" "p.(Leu355*)" "0" "0000641101" "00008368" "99" "1064" "0" "1064" "0" "c.1064del" "r.(?)" "p.(Leu355Argfs*3)" "0" "0000641102" "00008368" "99" "1099" "0" "1099" "0" "c.1099C>T" "r.(?)" "p.(Arg367*)" "0" "0000641103" "00008368" "55" "1186" "0" "1186" "0" "c.1186G>A" "r.(?)" "p.(Ala396Thr)" "0" "0000641104" "00008368" "99" "1200" "0" "1201" "0" "c.1200_1201del" "r.(?)" "p.(Met401Valfs*106)" "0" "0000641105" "00008368" "99" "1221" "0" "1221" "0" "c.1221dup" "r.(?)" "p.(Ser408Leufs*100)" "0" "0000656571" "00008368" "10" "-370" "28" "-370" "28" "c.-370+28dup" "r.(=)" "p.(=)" "" "0000656572" "00008368" "70" "708" "0" "708" "0" "c.708dup" "r.(?)" "p.(Ser237GlnfsTer67)" "" "0000656573" "00008368" "90" "916" "0" "916" "0" "c.916C>T" "r.(?)" "p.(Arg306Ter)" "" "0000656575" "00008368" "90" "1030" "0" "1030" "0" "c.1030C>T" "r.(?)" "p.(Leu344Phe)" "" "0000690796" "00008368" "30" "69" "0" "69" "0" "c.69C>T" "r.(?)" "p.(His23=)" "" "0000690797" "00008368" "30" "840" "0" "840" "0" "c.840G>C" "r.(?)" "p.(Thr280=)" "" "0000690798" "00008368" "30" "840" "0" "840" "0" "c.840G>C" "r.(?)" "p.(Thr280=)" "" "0000699785" "00008368" "90" "-30" "0" "1555" "0" "c.(?_-30)_(*220_?)del" "r.?" "p.0?" "" "0000699821" "00008368" "90" "-30" "0" "1555" "0" "c.(?_-30)_(*220_?)del" "r.?" "p.0?" "" "0000699864" "00008368" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277*)" "" "0000722953" "00008368" "30" "737" "0" "737" "0" "c.737G>C" "r.(?)" "p.(Gly246Ala)" "" "0000722954" "00008368" "50" "989" "0" "989" "0" "c.989G>A" "r.(?)" "p.(Arg330Lys)" "" "0000722955" "00008368" "70" "1022" "0" "1022" "0" "c.1022C>T" "r.(?)" "p.(Ala341Val)" "" "0000722956" "00008368" "30" "1050" "19" "1050" "19" "c.1050+19G>A" "r.(=)" "p.(=)" "" "0000804580" "00008368" "50" "163" "0" "163" "0" "c.163G>A" "r.(?)" "p.(Gly55Ser)" "" "0000804581" "00008368" "30" "216" "0" "216" "0" "c.216G>T" "r.(?)" "p.(Val72=)" "" "0000804582" "00008368" "90" "515" "0" "515" "0" "c.515C>A" "r.(?)" "p.(Ser172*)" "" "0000889262" "00008368" "50" "82" "0" "82" "0" "c.82C>A" "r.(?)" "p.(His28Asn)" "" "0000913336" "00008368" "30" "294" "0" "294" "0" "c.294C>T" "r.(?)" "p.(Asp98=)" "" "0000925196" "00008368" "30" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Gly242Ser)" "" "0000927946" "00008368" "70" "925" "-1" "925" "-1" "c.925-1G>T" "r.925_931del" "p.?" "" "0000952228" "00008368" "90" "404" "0" "404" "0" "c.404del" "r.(?)" "p.(Pro135ArgfsTer60)" "" "0000965869" "00008368" "50" "359" "0" "359" "0" "c.359C>T" "r.(?)" "p.(Thr120Met)" "" "0000965870" "00008368" "90" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(Arg299Trp)" "" "0000965871" "00008368" "50" "1172" "0" "1172" "0" "c.1172C>T" "r.(?)" "p.(Ser391Leu)" "" "0000998548" "00008368" "50" "613" "0" "613" "0" "c.613A>T" "r.(?)" "p.(Met205Leu)" "" "0001014662" "00008368" "90" "397" "0" "397" "0" "c.397dup" "r.(?)" "p.(Tyr133Leufs*171)" "" "0001025772" "00008368" "50" "987" "0" "987" "0" "c.987G>C" "r.(?)" "p.(Trp329Cys)" "" "0001038043" "00008368" "30" "304" "0" "304" "0" "c.304G>T" "r.(?)" "p.(Ala102Ser)" "" "0001038044" "00008368" "30" "359" "0" "359" "0" "c.359C>T" "r.(?)" "p.(Thr120Met)" "" "0001038049" "00008368" "30" "1257" "0" "1257" "0" "c.1257G>A" "r.(?)" "p.(Thr419=)" "" "0001044889" "00008368" "90" "153" "0" "153" "0" "c.153del" "r,(?)" "p.(Phe51LeufsTer144)" "" "0001044890" "00008368" "90" "478" "0" "478" "0" "c.478del" "r,(?)" "p.(Asp160ThrfsTer35)" "" "0001045083" "00008368" "90" "1259" "0" "1265" "0" "c.1259_1265del" "r.(?)" "p.(Pro420ArgfsTer54)" "" "0001046249" "00008368" "70" "791" "0" "791" "0" "c.791G>T" "r.(?)" "p.(Cys264Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 67 "{{screeningid}}" "{{variantid}}" "0000058987" "0000089788" "0000133814" "0000223242" "0000285306" "0000641048" "0000285307" "0000641049" "0000285308" "0000641050" "0000285309" "0000641051" "0000285310" "0000641052" "0000285311" "0000641053" "0000285312" "0000641054" "0000285313" "0000641055" "0000285314" "0000641056" "0000285315" "0000641057" "0000285316" "0000641058" "0000285317" "0000641059" "0000285318" "0000641060" "0000285319" "0000641061" "0000285320" "0000641062" "0000285321" "0000641063" "0000285322" "0000641064" "0000285323" "0000641065" "0000285324" "0000641066" "0000285325" "0000641067" "0000285326" "0000641068" "0000285327" "0000641069" "0000285328" "0000641070" "0000285329" "0000641071" "0000285330" "0000641072" "0000285331" "0000641073" "0000285332" "0000641074" "0000285333" "0000641075" "0000285334" "0000641076" "0000285335" "0000641077" "0000285336" "0000641078" "0000285337" "0000641079" "0000285338" "0000641080" "0000285339" "0000641081" "0000285340" "0000641082" "0000285341" "0000641083" "0000285342" "0000641084" "0000285343" "0000641085" "0000285344" "0000641086" "0000285345" "0000641087" "0000285346" "0000641088" "0000285347" "0000641089" "0000285348" "0000641090" "0000285349" "0000641091" "0000285350" "0000641092" "0000285351" "0000641093" "0000285352" "0000641094" "0000285353" "0000641095" "0000285354" "0000641096" "0000285355" "0000641097" "0000285356" "0000641098" "0000285357" "0000641099" "0000285358" "0000641100" "0000285359" "0000641101" "0000285360" "0000641102" "0000285361" "0000641103" "0000285362" "0000641104" "0000285363" "0000641105" "0000317261" "0000699785" "0000317297" "0000699821" "0000317340" "0000699864" "0000436803" "0000927946" "0000445314" "0000952228" "0000467120" "0001044889" "0000467121" "0001044890"