### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GREB1L) # 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}}" "GREB1L" "growth regulation by estrogen in breast cancer-like" "18" "q11.2" "unknown" "NC_000018.9" "UD_136022371981" "" "https://www.LOVD.nl/GREB1L" "" "1" "31042" "80000" "617782" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/GREB1L_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-12-31 12:22:34" "00006" "2025-09-26 10:21:02" ## 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}}" "00008918" "GREB1L" "growth regulation by estrogen in breast cancer-like" "001" "NM_001142966.1" "" "NP_001136438.1" "" "" "" "-271" "5781" "5772" "18822203" "19102791" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00523" "renal failure" "renal failure" "" "" "" "" "" "00006" "2014-09-12 13:58:08" "" "" "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" "05805" "RHDA" "hypodysplasia/aplasia, renal (RHDA)" "" "" "" "" "" "00006" "2020-08-07 09:59:48" "" "" "05806" "RHDA3" "hypodysplasia/aplasia, renal, type 3 (RHDA-3" "AD" "617805" "" "" "" "00006" "2020-08-07 10:00:28" "" "" "06877" "DFNA" "deafness, nonsyndromic (DFNA, autosomal dominant)" "" "" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06991" "DFNA80" "deafness, autosomal dominant, type 80" "AD" "619274" "" "" "" "00006" "2022-12-31 12:22:06" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "GREB1L" "05805" "GREB1L" "05806" "GREB1L" "06877" "GREB1L" "06991" ## Individuals ## Do not remove or alter this header ## ## Count = 53 "{{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}}" "00032349" "" "" "" "8" "" "00006" "{PMID:Jang 2015:25620203}, {DOI:Jang 2015:10.1016/j.ajhg.2014.11.019}" "4-generation family, 8 affecteds (5F, 3M)" "" "" "Korea" "" "0" "" "" "" "" "00132986" "" "" "" "1" "" "00006" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "" "M" "" "" "" "0" "" "" "" "29100090-FamDC8" "00132987" "" "" "" "1" "" "00006" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "" "F" "" "" "" "0" "" "" "" "29100090-FamDC9" "00132988" "" "" "" "1" "" "00006" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "" "F" "" "" "" "0" "" "" "" "29100090-FamDC10" "00132989" "" "" "" "1" "" "02295" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "" "F" "" "" "" "0" "" "" "" "FamDC11" "00132990" "" "" "" "1" "" "02295" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "affected mother" "F" "" "" "" "0" "" "" "" "FamDC12" "00132991" "" "" "" "1" "" "02295" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "affected sister (VUR), mother (uterus anomaly)" "M" "" "" "" "0" "" "" "" "FamDC13" "00132992" "" "" "" "1" "" "02295" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "" "F" "" "" "" "0" "" "" "" "FamDC14" "00132993" "" "" "" "1" "" "02295" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "" "M" "" "" "" "0" "" "" "" "FamDC15" "00132994" "" "" "" "1" "" "02295" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "affected sister (VUR), fatehr (?)" "F" "" "" "" "0" "" "" "" "FamDC16" "00147062" "" "" "" "3" "" "00006" "{PMID:de Tomasi 2017:29100091}" "2-generation family, 3 affecteds (F, 2M), unaffected carrier mother" "F;M" "" "France" "" "0" "" "" "" "29100091-Fam1" "00147063" "" "" "" "4" "" "00006" "{PMID:de Tomasi 2017:29100091}" "2-generation family, 4 affecteds (3F, M)" "F;M" "" "France" "" "0" "" "" "" "29100091-Fam2" "00147064" "" "" "" "4" "" "00006" "{PMID:de Tomasi 2017:29100091}" "2-generation family, 4 affecteds (F, 3M)" "F;M" "" "France" "" "0" "" "" "" "29100091-Fam3" "00147065" "" "" "" "2" "" "00006" "{PMID:de Tomasi 2017:29100091}" "2-generation family, 2 affecteds (F, M), unaffected carrier mother" "F;M" "" "France" "" "0" "" "" "" "29100091-Fam4" "00147066" "" "" "" "3" "" "00006" "{PMID:de Tomasi 2017:29100091}" "2-generation family, 3 affecteds (2F, M)" "F;M" "" "France" "" "0" "" "" "" "29100091-Fam5" "00147067" "" "" "" "1" "" "00006" "{PMID:de Tomasi 2017:29100091}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "France" "" "0" "" "" "" "29100091-Fam6" "00147068" "" "" "" "1" "" "00006" "{PMID:de Tomasi 2017:29100091}" "2-generation family, 1 affected, unaffected carrier mother" "F" "" "France" "" "0" "" "" "" "29100091-Fam7" "00147069" "" "" "" "3" "" "00006" "{PMID:de Tomasi 2017:29100091}" "2-generation family, 3 affecteds" "" "" "France" "" "0" "" "" "" "29100091-Fam8" "00147070" "" "" "" "3" "" "00006" "{PMID:de Tomasi 2017:29100091}" "2-generation family, 3 affecteds (2F, M)" "F;M" "" "France" "" "0" "" "" "" "29100091-Fam9" "00147071" "" "" "" "1" "" "00006" "{PMID:de Tomasi 2017:29100091}" "2-generation family, 1 affected" "M" "" "France" "" "0" "" "" "" "29100091-Fam10" "00147072" "" "" "" "1" "" "00006" "{PMID:de Tomasi 2017:29100091}" "2-generation family, 1 affected" "M" "" "France" "" "0" "" "" "" "29100091-Fam11" "00147073" "" "" "" "1" "" "00006" "{PMID:de Tomasi 2017:29100091}" "2-generation family, 1 affected" "M" "" "France" "" "0" "" "" "" "29100091-Fam12" "00147074" "" "" "" "1" "" "00006" "{PMID:de Tomasi 2017:29100091}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "France" "" "0" "" "" "" "29100091-Fam13" "00147075" "" "" "" "2" "" "00006" "{PMID:de Tomasi 2017:29100091}" "2-generation family, 2 affecteds (F, M), unaffected carrier sib" "F;M" "" "France" "" "0" "" "" "" "29100091-Fam14" "00147076" "" "" "" "1" "" "00006" "{PMID:de Tomasi 2017:29100091}" "2-generation family, 1 affected, unaffected carrier father" "F" "" "France" "" "0" "" "" "" "29100091-Fam15" "00147077" "" "" "" "1" "" "00006" "{PMID:de Tomasi 2017:29100091}" "2-generation family, 1 affected" "M" "" "France" "" "0" "" "" "" "29100091-Fam16" "00307269" "" "" "" "1" "" "00006" "3-generation family, 4 affected (F, 2M, fetus)" "" "F;M" "" "China" "" "0" "" "" "" "family" "00428311" "" "" "" "1" "" "04147" "{PMID:Adadey 2022:36357908}" "3-generation family, 1 affected (1M), 15 unaffected (8F, 7M), three individuals screened (proband, mother, brother)" "M" "no" "Ghana" "" "0" "" "" "Africa" "FamPatIII8" "00428318" "" "" "" "1" "" "00006" "{PMID:Schrauwen 2018:29955957}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat1" "00428319" "" "" "" "1" "" "00006" "{PMID:Schrauwen 2018:29955957}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat2" "00428370" "" "" "" "3" "" "00006" "{PMID:Schrauwen 2020:32585897}" "2-generation family, 3 affected (father, son, daughter)" "F;M" "" "Pakistan" "" "0" "" "" "" "Fam1PatI1?ii2/II3" "00428371" "" "" "" "1" "" "00006" "{PMID:Schrauwen 2020:32585897}" "2-generation family, 1 affected, unaffected carrier mother" "F" "no" "Egypt" "" "0" "" "" "" "Fam2" "00428380" "" "" "" "5" "" "00006" "{PMID:Jacquinet 20209:32378186}" "4-generation family, 5 affected (2F, 3M), fetus son" "M" "" "" "<0d" "0" "" "" "" "Fam5PatIV1" "00428381" "" "" "00428380" "1" "" "00006" "{PMID:Jacquinet 20209:32378186}" "mother" "F" "" "" "" "0" "" "" "" "Fam5PatIII2" "00428382" "" "" "00428380" "1" "" "00006" "{PMID:Jacquinet 20209:32378186}" "grandfather" "M" "" "" "" "0" "" "" "" "Fam5PatII1" "00428383" "" "" "00428380" "1" "" "00006" "{PMID:Jacquinet 20209:32378186}" "asymptomatic relative" "F" "" "" "" "0" "" "" "" "Fam5PatIII5" "00428384" "" "" "" "3" "" "00006" "{PMID:Jacquinet 20209:32378186}" "4-generation family, 3 affected (3F), fetus daughter (unaffected carrier mother)" "F" "" "" "<0d" "0" "" "" "" "Fam6PatIV1" "00428385" "" "" "00428384" "1" "" "00006" "{PMID:Jacquinet 20209:32378186}" "relative" "F" "" "" "" "0" "" "" "" "Fam6PatIII5" "00428386" "" "" "00428384" "1" "" "00006" "{PMID:Jacquinet 20209:32378186}" "aunt" "F" "" "" "" "0" "" "" "" "Fam6PatIII4" "00428387" "" "" "" "4" "" "00006" "{PMID:Jacquinet 20209:32378186}" "4-generation family, 4 affected (3F, M), father" "M" "" "" "" "0" "" "" "" "Fam7PatIII1" "00428388" "" "" "00428387" "1" "" "00006" "{PMID:Jacquinet 20209:32378186}" "daughter" "F" "" "" "" "0" "" "" "" "Fam7PatIV2" "00428389" "" "" "00428387" "1" "" "00006" "{PMID:Jacquinet 20209:32378186}" "fetus daughter" "F" "" "" "<0d" "0" "" "" "" "Fam7PatIV1" "00428390" "" "" "" "3" "" "00006" "{PMID:Jacquinet 20209:32378186}" "3-generation family, 2 affected fetus sisters" "F" "" "" "<0d" "0" "" "" "" "Fam9PatIII1" "00428391" "" "" "00428390" "1" "" "00006" "{PMID:Jacquinet 20209:32378186}" "fetus sister" "F" "" "" "<0d" "0" "" "" "" "Fam9PatIII2" "00428392" "" "" "00428390" "1" "" "00006" "{PMID:Jacquinet 20209:32378186}" "father" "M" "" "" "" "0" "" "" "" "Fam9PatII2" "00428393" "" "" "" "1" "" "00006" "{PMID:Jacquinet 20209:32378186}" "" "" "" "" "" "0" "" "" "" "U113" "00428394" "" "" "" "1" "" "00006" "{PMID:Jacquinet 20209:32378186}" "fetus, unaffected heterozygous carrier father" "" "" "" "" "0" "" "" "" "U042" "00428395" "" "" "" "1" "" "00006" "{PMID:Jacquinet 20209:32378186}" "" "" "" "" "" "0" "" "" "" "U125" "00428396" "" "" "" "1" "" "00006" "{PMID:Jacquinet 20209:32378186}" "" "" "" "" "" "0" "" "" "" "U098" "00428397" "" "" "" "1" "" "00006" "{PMID:Jacquinet 20209:32378186}" "" "" "" "" "" "0" "" "" "" "U147" "00428398" "" "" "" "1" "" "00006" "{PMID:Jacquinet 20209:32378186}" "" "" "" "" "" "0" "" "" "" "U120" "00428399" "" "" "" "1" "" "00006" "{PMID:Jacquinet 20209:32378186}" "" "" "" "" "" "0" "" "" "" "U149" "00465242" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 53 "{{individualid}}" "{{diseaseid}}" "00032349" "00198" "00132986" "05342" "00132987" "05342" "00132988" "05342" "00132989" "05342" "00132990" "05342" "00132991" "05342" "00132992" "05342" "00132993" "05342" "00132994" "05342" "00147062" "05342" "00147063" "05342" "00147064" "05342" "00147065" "05342" "00147066" "05342" "00147067" "05342" "00147068" "05342" "00147069" "05342" "00147070" "05342" "00147071" "05342" "00147072" "05342" "00147073" "05342" "00147074" "05342" "00147075" "05342" "00147076" "05342" "00147077" "05342" "00307269" "05805" "00428311" "06877" "00428318" "05103" "00428319" "05103" "00428370" "05103" "00428371" "05103" "00428380" "00198" "00428381" "00198" "00428382" "00198" "00428383" "00000" "00428384" "00198" "00428385" "00198" "00428386" "00198" "00428387" "00198" "00428388" "00198" "00428389" "00198" "00428390" "00198" "00428391" "00198" "00428392" "00000" "00428393" "00198" "00428394" "00198" "00428395" "00198" "00428396" "00198" "00428397" "00198" "00428398" "00198" "00428399" "00198" "00465242" "00523" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00523, 05103, 05342, 05805, 05806, 06877, 06991 ## Count = 53 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000025818" "00198" "00032349" "00006" "Familial, autosomal dominant" "" "see paper; atypical Singleton-Merten syndrome; aortic calcification, glaucoma, skeletal abnormalities, .." "" "" "" "" "" "" "" "" "" "" "" "0000105747" "05342" "00132986" "00006" "Familial" "" "CAKUT, multicystic dysplastic kidney left, congenital megaureter" "" "" "" "" "" "" "" "" "" "" "" "0000105748" "05342" "00132987" "00006" "Familial" "" "CAKUT, renal agenesis left; unicornate uterus, agenesis of left ovary" "" "" "" "" "" "" "" "" "" "" "" "0000105749" "05342" "00132988" "00006" "Familial" "" "CAKUT, renal dysplasia left, duplication ureter" "" "" "" "" "" "" "" "" "" "" "" "0000105750" "05342" "00132989" "00006" "Unknown" "" "CAKUT, renal agenesis left" "" "" "" "" "" "" "" "" "" "" "" "0000105751" "05342" "00132990" "00006" "Familial" "" "CAKUT, renal agenesis right" "" "" "" "" "" "" "" "" "" "" "" "0000105752" "05342" "00132991" "00006" "Familial" "" "CAKUT, renal agenesis bilateral, bladder agenesis; Potter sequence" "" "" "" "" "" "" "" "" "" "" "" "0000105753" "05342" "00132992" "00006" "Unknown" "" "CAKUT, renal agenesis left" "" "" "" "" "" "" "" "" "" "" "" "0000105754" "05342" "00132993" "00006" "Unknown" "" "CAKUT, renal agenesis left" "" "" "" "" "" "" "" "" "" "" "" "0000105755" "05342" "00132994" "00006" "Familial" "" "CAKUT, renal agenesis left" "" "" "" "" "" "" "" "" "" "" "" "0000119779" "05342" "00147062" "00006" "Familial, autosomal dominant" "" "1 affected unilateral case, 2 deceased bilateral cases" "" "" "" "" "" "" "" "" "" "" "" "0000119780" "05342" "00147063" "00006" "Familial, autosomal dominant" "" "2 affected unilateral cases, 2 deceased bilateral cases" "" "" "" "" "" "" "" "" "" "" "" "0000119781" "05342" "00147064" "00006" "Familial, autosomal dominant" "" "2 affected unilateral cases, 2 deceased bilateral cases" "" "" "" "" "" "" "" "" "" "" "" "0000119782" "05342" "00147065" "00006" "Familial, autosomal dominant" "" "2 deceased bilateral cases" "" "" "" "" "" "" "" "" "" "" "" "0000119783" "05342" "00147066" "00006" "Familial, autosomal dominant" "" "1 affected unilateral case, 2 deceased bilateral cases" "" "" "" "" "" "" "" "" "" "" "" "0000119784" "05342" "00147067" "00006" "Unknown" "" "1 deceased bilateral case" "" "" "" "" "" "" "" "" "" "" "" "0000119785" "05342" "00147068" "00006" "Unknown" "" "1 deceased bilateral case" "" "" "" "" "" "" "" "" "" "" "" "0000119786" "05342" "00147069" "00006" "Familial, autosomal dominant" "" "1 affected unilateral case, 2 deceased bilateral cases" "" "" "" "" "" "" "" "" "" "" "" "0000119787" "05342" "00147070" "00006" "Familial, autosomal dominant" "" "1 affected unilateral case, 2 deceased bilateral cases" "" "" "" "" "" "" "" "" "" "" "" "0000119788" "05342" "00147071" "00006" "Unknown" "" "1 deceased bilateral case" "" "" "" "" "" "" "" "" "" "" "" "0000119789" "05342" "00147072" "00006" "Unknown" "" "1 deceased bilateral case" "" "" "" "" "" "" "" "" "" "" "" "0000119790" "05342" "00147073" "00006" "Unknown" "" "1 deceased bilateral case" "" "" "" "" "" "" "" "" "" "" "" "0000119791" "05342" "00147074" "00006" "Unknown" "" "1 deceased bilateral case" "" "" "" "" "" "" "" "" "" "" "" "0000119792" "05342" "00147075" "00006" "Unknown" "" "1 affected unilateral case, 1 deceased bilateral case" "" "" "" "" "" "" "" "" "" "" "" "0000119793" "05342" "00147076" "00006" "Unknown" "" "1 affected unilateral case" "" "" "" "" "" "" "" "" "" "" "" "0000119794" "05342" "00147077" "00006" "Unknown" "" "1 affected unilateral case" "" "" "" "" "" "" "" "" "" "" "" "0000233072" "05805" "00307269" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "RHDA3" "renal agenesis" "" "0000319216" "06877" "00428311" "04147" "Familial, autosomal dominant" "" "profound bilateral, symmetrical sensorineural hearing impairment (HP:0000365); no enal tubular dysfunction (-HP:0000124)" "" "" "" "" "" "" "" "" "DFNA80" "non-syndromic hearing impairment" "" "0000319222" "05103" "00428318" "00006" "Isolated (sporadic)" "" "profound bilateral sensorineural hearing impairment, right bilateral cochlear aplasia, left unilateral incomplete partition type I; bilateral dysplastic vestibule and semicircular canals; bilateral cochlear nerve aplasia; absent or malformed cochleae, absent eighth cranial nerves" "" "" "" "" "" "" "" "" "DFNA80" "nonsyndromic congenital deafness" "" "0000319223" "05103" "00428319" "00006" "Isolated (sporadic)" "" "bilaterally absent cochleae, enlarged vestibules, dysplastic SCCs; profound bilateral sensorineural hearing impairment, bilateral cochlear aplasia; bilateral dysplastic vestibule and semicircular canals; bilateral cochlear nerve aplasia" "" "" "" "" "" "" "" "" "DFNA80" "non-syndromic deafness" "" "0000319277" "05103" "00428370" "00006" "Familial, autosomal dominant" "" "profound sensorineural hearing impairment; no gross vestibular dysfunction" "" "" "" "" "" "" "" "" "DFNA80" "congenital hearing impairment" "" "0000319278" "05103" "00428371" "00006" "Unknown" "" "profound bilateral sensorineural hearing impairment, bilateral cochlear aplasia; bilateral dysplastic vestibule and semicircular canals; bilateral cochlear nerve aplasia" "" "" "" "" "" "" "" "" "DFNA80" "congenital hearing impairment" "" "0000319286" "00198" "00428380" "00006" "Unknown" "" "unilateral renal agenesis, multicystic kidney disease" "" "" "" "" "" "" "" "" "" "urogenital adysplasia" "" "0000319287" "00198" "00428381" "00006" "Unknown" "" "unilateral renal agenesis" "" "" "" "" "" "" "" "" "" "urogenital adysplasia" "" "0000319288" "00198" "00428382" "00006" "Unknown" "" "unilateral renal agenesis" "" "" "" "" "" "" "" "" "" "urogenital adysplasia" "" "0000319289" "00000" "00428383" "00006" "Unknown" "" "asymptomatic (fetus with uterovaginal aplasia and bilateral renal agenesis)" "" "" "" "" "" "" "" "" "" "asymptomatic" "" "0000319290" "00198" "00428384" "00006" "Unknown" "" "unilateral renal agenesis, multicystic kidney disease" "" "" "" "" "" "" "" "" "" "urogenital adysplasia" "" "0000319291" "00198" "00428385" "00006" "Unknown" "" "Mayer-Rokitansky-Kuster-Hauser syndrome type 2; unilateral renal agenesis; mild scoliosis" "" "" "" "" "" "" "" "" "" "urogenital adysplasia" "" "0000319292" "00198" "00428386" "00006" "Unknown" "" "Mayer-Rokitansky-Kuster-Hauser syndrome type 2; unilateral renal agenesis" "" "" "" "" "" "" "" "" "" "urogenital adysplasia" "" "0000319293" "00198" "00428387" "00006" "Unknown" "" "unilateral renal agenesis" "" "" "" "" "" "" "" "" "" "urogenital adysplasia" "" "0000319294" "00198" "00428388" "00006" "Unknown" "" "unilateral renal agenesis" "" "" "" "" "" "" "" "" "" "urogenital adysplasia" "" "0000319295" "00198" "00428389" "00006" "Unknown" "" "terovaginal aplasia, bilateral renal agenesis, streak gonads, ureter and bladder aplasia" "" "" "" "" "" "" "" "" "" "urogenital adysplasia" "" "0000319296" "00198" "00428390" "00006" "Unknown" "" "uterovaginal aplasia, bilateral renal agenesis, ureter and bladder aplasia" "" "" "" "" "" "" "" "" "" "urogenital adysplasia" "" "0000319297" "00198" "00428391" "00006" "Unknown" "" "uterovaginal aplasia, bilateral renal agenesis, ureter and bladder aplasia, unilateral hexadactyly" "" "" "" "" "" "" "" "" "" "urogenital adysplasia" "" "0000319298" "00000" "00428392" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "asymptomatic" "" "0000319299" "00198" "00428393" "00006" "Unknown" "" "ectopic kidney, VUR, duplicated ureter, Mayer-Rokitansky-Kuster-Hauser syndrome type 2, unilateral, polydactyly, facial asymmetry" "" "" "" "" "" "" "" "" "" "urogenital adysplasia" "" "0000319300" "00198" "00428394" "00006" "Unknown" "" "uterovaginal aplasia, streak ovaries, unilateral renal agenesis, multicystic kidney disease, 11 pairs of ribs, cervical hemivertebrae" "" "" "" "" "" "" "" "" "" "urogenital adysplasia" "" "0000319301" "00198" "00428395" "00006" "Unknown" "" "unilateral renal agenesis, Mayer-Rokitansky-Kuster-Hauser syndrome type 2" "" "" "" "" "" "" "" "" "" "urogenital adysplasia" "" "0000319302" "00198" "00428396" "00006" "Unknown" "" "Mayer-Rokitansky-Kuster-Hauser syndrome type 1" "" "" "" "" "" "" "" "" "" "urogenital adysplasia" "" "0000319303" "00198" "00428397" "00006" "Unknown" "" "Mayer-Rokitansky-Kuster-Hauser syndrome type 2, ectopic kidney" "" "" "" "" "" "" "" "" "" "urogenital adysplasia" "" "0000319304" "00198" "00428398" "00006" "Unknown" "" "Mayer-Rokitansky-Kuster-Hauser syndrome type 1" "" "" "" "" "" "" "" "" "" "urogenital adysplasia" "" "0000319305" "00198" "00428399" "00006" "Unknown" "" "Mayer-Rokitansky-Kuster-Hauser syndrome type 2, mild caliectasis, vertebral anomalies, imperforate anus" "" "" "" "" "" "" "" "" "" "urogenital adysplasia" "" "0000350777" "00523" "00465242" "03544" "Familial, autosomal dominant" "" "HP:0000089, HP:0000104, HP.0008678, HP:0010958, HP:0012584, HP:0012582, HP:0001627, HP:0001638, HP:0011723, HP:0045017, HP:0002089" "" "" "" "" "" "" "" "" "RHDA3" "multiple congenital abnormalities, renal agenesis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 53 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000032416" "00032349" "1" "00006" "00006" "2015-02-15 22:26:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000133820" "00132986" "1" "00006" "00006" "2017-11-11 21:33:23" "" "" "SEQ" "DNA" "" "WES" "0000133821" "00132987" "1" "00006" "00006" "2017-11-11 21:33:23" "" "" "SEQ" "DNA" "" "WES" "0000133822" "00132988" "1" "00006" "00006" "2017-11-11 21:33:23" "" "" "SEQ" "DNA" "" "WES" "0000133823" "00132989" "1" "00006" "00006" "2017-11-11 21:33:23" "" "" "SEQ" "DNA" "" "WES" "0000133824" "00132990" "1" "00006" "00006" "2017-11-11 21:33:23" "" "" "SEQ" "DNA" "" "WES" "0000133825" "00132991" "1" "00006" "00006" "2017-11-11 21:33:23" "" "" "SEQ" "DNA" "" "WES" "0000133826" "00132992" "1" "00006" "00006" "2017-11-11 21:33:23" "" "" "SEQ" "DNA" "" "WES" "0000133827" "00132993" "1" "00006" "00006" "2017-11-11 21:33:23" "" "" "SEQ" "DNA" "" "WES" "0000133828" "00132994" "1" "00006" "00006" "2017-11-11 21:33:23" "" "" "SEQ" "DNA" "" "WES" "0000147918" "00147062" "1" "00006" "00006" "2017-12-30 14:03:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000147919" "00147063" "1" "00006" "00006" "2017-12-30 14:03:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000147920" "00147064" "1" "00006" "00006" "2017-12-30 14:03:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000147921" "00147065" "1" "00006" "00006" "2017-12-30 14:03:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000147922" "00147066" "1" "00006" "00006" "2017-12-30 14:03:32" "" "" "SEQ" "DNA" "" "" "0000147923" "00147067" "1" "00006" "00006" "2017-12-30 14:03:32" "" "" "SEQ" "DNA" "" "" "0000147924" "00147068" "1" "00006" "00006" "2017-12-30 14:03:32" "" "" "SEQ" "DNA" "" "" "0000147925" "00147069" "1" "00006" "00006" "2017-12-30 14:03:32" "" "" "SEQ" "DNA" "" "" "0000147926" "00147070" "1" "00006" "00006" "2017-12-30 14:03:32" "" "" "SEQ" "DNA" "" "" "0000147927" "00147071" "1" "00006" "00006" "2017-12-30 14:03:32" "" "" "SEQ" "DNA" "" "" "0000147928" "00147072" "1" "00006" "00006" "2017-12-30 14:03:32" "" "" "SEQ" "DNA" "" "" "0000147929" "00147073" "1" "00006" "00006" "2017-12-30 14:03:32" "" "" "SEQ" "DNA" "" "" "0000147930" "00147074" "1" "00006" "00006" "2017-12-30 14:03:32" "" "" "SEQ" "DNA" "" "" "0000147931" "00147075" "1" "00006" "00006" "2017-12-30 14:03:32" "" "" "SEQ" "DNA" "" "" "0000147932" "00147076" "1" "00006" "00006" "2017-12-30 14:03:32" "" "" "SEQ" "DNA" "" "" "0000147933" "00147077" "1" "00006" "00006" "2017-12-30 14:03:32" "" "" "SEQ" "DNA" "" "" "0000308411" "00307269" "1" "00006" "00006" "2020-08-07 10:04:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429722" "00428311" "1" "04147" "04147" "2022-12-30 16:42:57" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000429730" "00428318" "1" "00006" "00006" "2022-12-31 12:30:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429731" "00428319" "1" "00006" "00006" "2022-12-31 12:40:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429782" "00428370" "1" "00006" "00006" "2023-01-01 12:56:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429783" "00428371" "1" "00006" "00006" "2023-01-01 13:05:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429792" "00428380" "1" "00006" "00006" "2023-01-02 14:50:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429793" "00428381" "1" "00006" "00006" "2023-01-02 14:50:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429794" "00428382" "1" "00006" "00006" "2023-01-02 14:50:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429795" "00428383" "1" "00006" "00006" "2023-01-02 14:50:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429796" "00428384" "1" "00006" "00006" "2023-01-02 14:50:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429797" "00428385" "1" "00006" "00006" "2023-01-02 14:50:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429798" "00428386" "1" "00006" "00006" "2023-01-02 14:50:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429799" "00428387" "1" "00006" "00006" "2023-01-02 14:50:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429800" "00428388" "1" "00006" "00006" "2023-01-02 14:50:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429801" "00428389" "1" "00006" "00006" "2023-01-02 14:50:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429802" "00428390" "1" "00006" "00006" "2023-01-02 14:50:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429803" "00428391" "1" "00006" "00006" "2023-01-02 14:50:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429804" "00428392" "1" "00006" "00006" "2023-01-02 14:50:02" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000429805" "00428393" "1" "00006" "00006" "2023-01-02 14:50:02" "" "" "MIPsm;SEQ" "DNA" "" "" "0000429806" "00428394" "1" "00006" "00006" "2023-01-02 14:50:02" "" "" "MIPsm;SEQ" "DNA" "" "" "0000429807" "00428395" "1" "00006" "00006" "2023-01-02 14:50:02" "" "" "MIPsm;SEQ" "DNA" "" "" "0000429808" "00428396" "1" "00006" "00006" "2023-01-02 14:50:02" "" "" "MIPsm;SEQ" "DNA" "" "" "0000429809" "00428397" "1" "00006" "00006" "2023-01-02 14:50:02" "" "" "MIPsm;SEQ" "DNA" "" "" "0000429810" "00428398" "1" "00006" "00006" "2023-01-02 14:50:02" "" "" "MIPsm;SEQ" "DNA" "" "" "0000429811" "00428399" "1" "00006" "00006" "2023-01-02 14:50:02" "" "" "MIPsm;SEQ" "DNA" "" "" "0000466892" "00465242" "1" "03544" "03544" "2025-04-26 11:47:40" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 35 "{{screeningid}}" "{{geneid}}" "0000032416" "DDX58" "0000133820" "GREB1L" "0000133821" "GREB1L" "0000133822" "GREB1L" "0000133823" "GREB1L" "0000133824" "GREB1L" "0000133825" "GREB1L" "0000133826" "GREB1L" "0000133827" "GREB1L" "0000133828" "GREB1L" "0000147918" "GREB1L" "0000147919" "GREB1L" "0000147920" "GREB1L" "0000147921" "GREB1L" "0000147922" "GREB1L" "0000147923" "GREB1L" "0000147924" "GREB1L" "0000147925" "GREB1L" "0000147926" "GREB1L" "0000147927" "GREB1L" "0000147928" "GREB1L" "0000147929" "GREB1L" "0000147930" "GREB1L" "0000147931" "GREB1L" "0000147932" "GREB1L" "0000147933" "GREB1L" "0000308411" "GREB1L" "0000429722" "GREB1L" "0000429805" "HGF" "0000429806" "HGF" "0000429807" "HGF" "0000429808" "HGF" "0000429809" "HGF" "0000429810" "HGF" "0000429811" "HGF" ## 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 = 109 "{{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}}" "0000058577" "1" "30" "18" "19041480" "19041480" "subst" "0" "00006" "GREB1L_000001" "g.19041480A>C" "" "{PMID:Jang 2015:25620203}, {DOI:Jang 2015:10.1016/j.ajhg.2014.11.019}" "" "" "" "Germline" "" "" "0" "" "" "g.21461519A>C" "" "likely benign" "" "0000223248" "0" "90" "18" "18963516" "18963516" "subst" "0" "00006" "GREB1L_000002" "g.18963516C>T" "" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "" "" "" "Germline" "" "" "0" "" "" "g.21383555C>T" "" "pathogenic" "" "0000223249" "0" "90" "18" "18975373" "18975373" "subst" "0" "00006" "GREB1L_000003" "g.18975373G>A" "" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "" "" "" "Germline" "" "" "0" "" "" "g.21395412G>A" "" "pathogenic" "" "0000223250" "11" "90" "18" "19053090" "19053090" "subst" "0" "00006" "GREB1L_000004" "g.19053090G>C" "" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "" "" "" "Germline" "" "" "0" "" "" "g.21473129G>C" "" "pathogenic" "" "0000223251" "0" "90" "18" "19076465" "19076465" "subst" "1.3241E-5" "00006" "GREB1L_000005" "g.19076465G>C" "" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "" "" "" "Germline" "" "" "0" "" "" "g.21496504G>C" "" "pathogenic" "" "0000223252" "21" "90" "18" "19080531" "19080531" "dup" "0" "00006" "GREB1L_000006" "g.19080531dup" "" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "" "3998_3999insC" "" "Germline" "" "" "0" "" "" "g.21500570dup" "" "pathogenic" "" "0000223253" "21" "90" "18" "19088497" "19088497" "subst" "0" "00006" "GREB1L_000007" "g.19088497C>A" "" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "" "" "" "Germline" "" "" "0" "" "" "g.21508536C>A" "" "pathogenic" "" "0000223254" "0" "90" "18" "19088517" "19088517" "subst" "0" "00006" "GREB1L_000008" "g.19088517T>C" "" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "" "" "" "De novo" "" "" "0" "" "" "g.21508556T>C" "" "pathogenic" "" "0000223255" "0" "90" "18" "19095467" "19095467" "subst" "0" "00006" "GREB1L_000009" "g.19095467A>G" "" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "" "4991A>C (Tyr1664Cys)" "variant DNA/protein did not match" "Germline" "" "" "0" "" "" "g.21515506A>G" "" "pathogenic" "" "0000223256" "21" "90" "18" "19095544" "19095544" "subst" "0" "00006" "GREB1L_000010" "g.19095544G>A" "" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "" "" "" "Germline" "" "" "0" "" "" "g.21515583G>A" "" "pathogenic" "" "0000241181" "21" "90" "18" "19029659" "19029659" "del" "0" "00006" "GREB1L_000011" "g.19029659del" "" "{PMID:de Tomasi 2017:29100091}" "" "1582delC" "" "Germline" "yes" "" "0" "" "" "g.21449698del" "" "pathogenic" "" "0000241182" "21" "90" "18" "19031043" "19031043" "subst" "0" "00006" "GREB1L_000012" "g.19031043G>T" "" "{PMID:de Tomasi 2017:29100091}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21451082G>T" "" "pathogenic" "" "0000241183" "21" "90" "18" "19070208" "19070208" "subst" "0" "00006" "GREB1L_000013" "g.19070208C>T" "" "{PMID:de Tomasi 2017:29100091}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21490247C>T" "" "pathogenic" "" "0000241184" "21" "90" "18" "19088078" "19088078" "subst" "0" "00006" "GREB1L_000014" "g.19088078G>C" "" "{PMID:de Tomasi 2017:29100091}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21508117G>C" "" "pathogenic" "" "0000241185" "0" "90" "18" "19088424" "19088424" "subst" "0" "00006" "GREB1L_000015" "g.19088424A>G" "" "{PMID:de Tomasi 2017:29100091}" "" "" "de novo in mother" "De novo" "" "" "0" "" "" "g.21508463A>G" "" "pathogenic" "" "0000241186" "21" "90" "18" "19088215" "19088215" "subst" "0" "00006" "GREB1L_000016" "g.19088215T>C" "" "{PMID:de Tomasi 2017:29100091}" "" "" "" "Germline" "" "" "0" "" "" "g.21508254T>C" "" "pathogenic" "" "0000241187" "21" "90" "18" "19088489" "19088489" "subst" "1.31534E-5" "00006" "GREB1L_000017" "g.19088489C>A" "" "{PMID:de Tomasi 2017:29100091}" "" "" "" "Germline" "" "" "0" "" "" "g.21508528C>A" "" "pathogenic" "" "0000241188" "21" "90" "18" "19053060" "19053060" "subst" "0" "00006" "GREB1L_000018" "g.19053060C>T" "" "{PMID:de Tomasi 2017:29100091}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21473099C>T" "" "pathogenic" "" "0000241189" "21" "90" "18" "18981153" "18981153" "subst" "0" "00006" "GREB1L_000019" "g.18981153G>T" "" "{PMID:de Tomasi 2017:29100091}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21401192G>T" "" "pathogenic" "" "0000241190" "0" "90" "18" "19088544" "19088544" "subst" "0" "00006" "GREB1L_000020" "g.19088544C>T" "" "{PMID:de Tomasi 2017:29100091}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.21508583C>T" "" "pathogenic" "" "0000241191" "0" "90" "18" "19088236" "19088236" "subst" "6.58423E-6" "00006" "GREB1L_000021" "g.19088236A>T" "" "{PMID:de Tomasi 2017:29100091}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.21508275A>T" "" "pathogenic" "" "0000241192" "0" "90" "18" "19098046" "19098046" "subst" "0" "00006" "GREB1L_000022" "g.19098046G>A" "" "{PMID:de Tomasi 2017:29100091}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.21518085G>A" "" "pathogenic" "" "0000241193" "21" "90" "18" "19053061" "19053061" "subst" "2.69731E-5" "00006" "GREB1L_000023" "g.19053061G>A" "" "{PMID:de Tomasi 2017:29100091}" "" "" "" "Germline" "" "" "0" "" "" "g.21473100G>A" "" "pathogenic" "" "0000241194" "21" "90" "18" "19020263" "19020263" "subst" "0" "00006" "GREB1L_000024" "g.19020263G>A" "" "{PMID:de Tomasi 2017:29100091}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21440302G>A" "" "pathogenic" "" "0000241195" "11" "90" "18" "19031076" "19031076" "subst" "0" "00006" "GREB1L_000025" "g.19031076A>C" "" "{PMID:de Tomasi 2017:29100091}" "" "" "" "Germline" "" "" "0" "" "" "g.21451115A>C" "" "pathogenic" "" "0000241196" "0" "90" "18" "19034490" "19034490" "subst" "0" "00006" "GREB1L_000026" "g.19034490G>T" "" "{PMID:de Tomasi 2017:29100091}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.21454529G>T" "" "pathogenic" "" "0000563975" "0" "10" "18" "19079853" "19079853" "subst" "0.996696" "01943" "GREB1L_000027" "g.19079853A>G" "" "" "" "GREB1L(NM_001142966.2):c.3555A>G (p.E1185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21499892A>G" "" "benign" "" "0000563976" "0" "30" "18" "19100760" "19100762" "dup" "0" "01943" "GREB1L_000028" "g.19100760_19100762dup" "" "" "" "GREB1L(NM_001142966.2):c.5584_5586dupCTT (p.L1862dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21520799_21520801dup" "" "likely benign" "" "0000623807" "0" "50" "18" "18964286" "18964286" "subst" "0.00258081" "01943" "GREB1L_000029" "g.18964286G>A" "" "" "" "GREB1L(NM_001142966.2):c.277G>A (p.E93K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21384325G>A" "" "VUS" "" "0000681091" "0" "50" "18" "19029755" "19029755" "subst" "0" "02327" "GREB1L_000031" "g.19029755G>A" "" "" "" "GREB1L(NM_001142966.2):c.1678G>A (p.A560T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681092" "0" "30" "18" "19065722" "19065722" "subst" "0.000582998" "01943" "GREB1L_000032" "g.19065722G>A" "" "" "" "GREB1L(NM_001142966.2):c.2690+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681093" "0" "30" "18" "19080561" "19080561" "subst" "3.31095E-5" "01943" "GREB1L_000033" "g.19080561C>A" "" "" "" "GREB1L(NM_001142966.2):c.4030C>A (p.L1344I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682784" "11" "90" "18" "19053142" "19053142" "subst" "0" "00006" "GREB1L_000030" "g.19053142T>A" "" "{PMID:Wang 2020:32598191}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000692546" "0" "10" "18" "19029465" "19029465" "subst" "0.000745812" "02326" "GREB1L_000034" "g.19029465A>G" "" "" "" "GREB1L(NM_001142966.2):c.1394-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000692547" "0" "30" "18" "19098003" "19098003" "subst" "0.00227034" "01943" "GREB1L_000035" "g.19098003G>C" "" "" "" "GREB1L(NM_001142966.2):c.5280G>C (p.E1760D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726810" "0" "50" "18" "19102747" "19102747" "subst" "6.74718E-6" "02327" "GREB1L_000036" "g.19102747A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000763382" "0" "70" "18" "19085810" "19085810" "subst" "1.31234E-5" "03779" "GREB1L_000037" "g.19085810G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1027409544" "0" "" "" "" "" "likely pathogenic" "" "0000808388" "0" "30" "18" "18964286" "18964286" "subst" "0.00258081" "02326" "GREB1L_000029" "g.18964286G>A" "" "" "" "GREB1L(NM_001142966.2):c.277G>A (p.E93K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808389" "0" "70" "18" "19085529" "19085529" "subst" "0" "02326" "GREB1L_000038" "g.19085529G>C" "" "" "" "GREB1L(NM_001142966.2):c.4228+1G>C, GREB1L(NM_001142966.3):c.4228+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000855195" "0" "30" "18" "19070081" "19070081" "subst" "0.000887691" "01943" "GREB1L_000041" "g.19070081A>G" "" "" "" "GREB1L(NM_001142966.2):c.2799A>G (p.T933=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865588" "0" "50" "18" "19029672" "19029672" "subst" "1.98289E-5" "02327" "GREB1L_000039" "g.19029672C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865589" "0" "30" "18" "19029755" "19029755" "subst" "0" "01943" "GREB1L_000031" "g.19029755G>A" "" "" "" "GREB1L(NM_001142966.2):c.1678G>A (p.A560T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865590" "0" "10" "18" "19032046" "19032057" "del" "0" "02326" "GREB1L_000040" "g.19032046_19032057del" "" "" "" "GREB1L(NM_001142966.2):c.1852_1863delGATGACCTAGAC (p.D618_D621del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000865591" "0" "50" "18" "19076591" "19076591" "subst" "0.000225136" "01943" "GREB1L_000042" "g.19076591A>G" "" "" "" "GREB1L(NM_001142966.2):c.3323A>G (p.D1108G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865592" "0" "30" "18" "19088528" "19088528" "subst" "0.00011854" "01943" "GREB1L_000043" "g.19088528G>A" "" "" "" "GREB1L(NM_001142966.2):c.4711G>A (p.G1571S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894397" "0" "30" "18" "19019504" "19019504" "subst" "3.27873E-5" "02326" "GREB1L_000044" "g.19019504C>T" "" "" "" "GREB1L(NM_001142966.2):c.855C>T (p.S285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894398" "0" "50" "18" "19019568" "19019568" "subst" "0" "02327" "GREB1L_000045" "g.19019568C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894400" "0" "30" "18" "19030972" "19030972" "subst" "0.000611536" "02326" "GREB1L_000047" "g.19030972T>C" "" "" "" "GREB1L(NM_001142966.2):c.1721-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894401" "0" "50" "18" "19057255" "19057255" "subst" "0" "02327" "GREB1L_000048" "g.19057255C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894402" "0" "90" "18" "19076539" "19076546" "del" "0" "02327" "GREB1L_000049" "g.19076539_19076546del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000894403" "0" "30" "18" "19080000" "19080000" "subst" "0.000113956" "02326" "GREB1L_000050" "g.19080000A>G" "" "" "" "GREB1L(NM_001142966.2):c.3702A>G (p.L1234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894404" "0" "70" "18" "19093797" "19093797" "subst" "0" "02327" "GREB1L_000051" "g.19093797T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000909334" "0" "90" "18" "19075641" "19075641" "subst" "0" "04147" "GREB1L_000052" "g.19075641G>A" "" "{PMID:Adadey 2022:36357908}" "" "" "father not analysed" "Germline/De novo (untested)" "" "" "0" "" "" "g.21495680G>A" "" "pathogenic (dominant)" "ACMG" "0000909341" "0" "90" "18" "19085910" "19085910" "subst" "0" "00006" "GREB1L_000053" "g.19085910G>T" "" "{PMID:Schrauwen 2018:29955957}" "" "" "predicted to affect splicing" "De novo" "" "" "0" "" "" "g.21505949G>T" "" "pathogenic (dominant)" "" "0000909342" "0" "90" "18" "19020262" "19020262" "subst" "0" "00006" "GREB1L_000054" "g.19020262C>T" "" "{PMID:Schrauwen 2018:29955957}" "" "" "" "De novo" "" "" "0" "" "" "g.21440301C>T" "SCV000611708" "pathogenic (dominant)" "" "0000909403" "11" "70" "18" "19019497" "19019497" "subst" "0" "00006" "GREB1L_000055" "g.19019497A>G" "" "{PMID:Schrauwen 2020:32585897}" "" "" "possible loss exonic splice enhancer site; ACMG PM2, PP1-M, PP2, PP3" "Germline" "yes" "" "0" "" "" "g.21439536A>G" "" "likely pathogenic (dominant)" "ACMG" "0000909404" "21" "70" "18" "18964356" "18964356" "subst" "0" "00006" "GREB1L_000056" "g.18964356C>T" "" "{PMID:Schrauwen 2020:32585897}" "" "" "ACMG PM2, PP2, PP3, PP4; reduced penetrance" "Germline" "" "" "0" "" "" "g.21384395C>T" "" "VUS (!)" "ACMG" "0000909416" "21" "90" "18" "19070069" "19070070" "del" "0" "00006" "GREB1L_000061" "g.19070069_19070070del" "" "{PMID:Jacquinet 20209:32378186}" "" "" "reduced penetrance" "Germline" "" "" "0" "" "" "g.21490108_21490109del" "" "pathogenic (!)" "ACMG" "0000909417" "11" "90" "18" "19070069" "19070070" "del" "0" "00006" "GREB1L_000061" "g.19070069_19070070del" "" "{PMID:Jacquinet 20209:32378186}" "" "" "reduced penetrance" "Germline" "" "" "0" "" "" "g.21490108_21490109del" "" "pathogenic (!)" "ACMG" "0000909418" "0" "90" "18" "19070069" "19070070" "del" "0" "00006" "GREB1L_000061" "g.19070069_19070070del" "" "{PMID:Jacquinet 20209:32378186}" "" "" "reduced penetrance" "Germline" "" "" "0" "" "" "g.21490108_21490109del" "" "pathogenic (!)" "ACMG" "0000909419" "20" "90" "18" "19070069" "19070070" "del" "0" "00006" "GREB1L_000061" "g.19070069_19070070del" "" "{PMID:Jacquinet 20209:32378186}" "" "" "asymptomatic" "Germline" "" "" "0" "" "" "g.21490108_21490109del" "" "pathogenic (!)" "ACMG" "0000909420" "21" "90" "18" "19053036" "19053036" "del" "0" "00006" "GREB1L_000059" "g.19053036del" "" "{PMID:Jacquinet 20209:32378186}" "" "" "" "Germline" "" "" "0" "" "" "g.21473075del" "" "pathogenic" "ACMG" "0000909421" "20" "90" "18" "19053036" "19053036" "del" "0" "00006" "GREB1L_000059" "g.19053036del" "" "{PMID:Jacquinet 20209:32378186}" "" "" "" "Germline" "" "" "0" "" "" "g.21473075del" "" "pathogenic" "ACMG" "0000909422" "20" "90" "18" "19053036" "19053036" "del" "0" "00006" "GREB1L_000059" "g.19053036del" "" "{PMID:Jacquinet 20209:32378186}" "" "" "" "Germline" "" "" "0" "" "" "g.21473075del" "" "pathogenic" "ACMG" "0000909423" "20" "90" "18" "19096642" "19096642" "subst" "0" "00006" "GREB1L_000065" "g.19096642A>G" "" "{PMID:Jacquinet 20209:32378186}" "" "" "" "Germline" "" "" "0" "" "" "g.21516681A>G" "" "VUS" "ACMG" "0000909424" "11" "90" "18" "19096642" "19096642" "subst" "0" "00006" "GREB1L_000065" "g.19096642A>G" "" "{PMID:Jacquinet 20209:32378186}" "" "" "" "Germline" "" "" "0" "" "" "g.21516681A>G" "" "VUS" "ACMG" "0000909425" "11" "90" "18" "19096642" "19096642" "subst" "0" "00006" "GREB1L_000065" "g.19096642A>G" "" "{PMID:Jacquinet 20209:32378186}" "" "" "" "Germline" "" "" "0" "" "" "g.21516681A>G" "" "VUS" "ACMG" "0000909426" "11" "90" "18" "19080481" "19080481" "subst" "0" "00006" "GREB1L_000063" "g.19080481A>G" "" "{PMID:Jacquinet 20209:32378186}" "" "" "reduced penetrance" "Germline" "" "" "0" "" "" "g.21500520A>G" "" "likely pathogenic (!)" "ACMG" "0000909427" "11" "90" "18" "19080481" "19080481" "subst" "0" "00006" "GREB1L_000063" "g.19080481A>G" "" "{PMID:Jacquinet 20209:32378186}" "" "" "reduced penetrance" "Germline" "" "" "0" "" "" "g.21500520A>G" "" "likely pathogenic (!)" "ACMG" "0000909428" "1" "90" "18" "19080481" "19080481" "subst" "0" "00006" "GREB1L_000063" "g.19080481A>G" "" "{PMID:Jacquinet 20209:32378186}" "" "" "asymptomatic" "Germline" "" "" "0" "" "" "g.21500520A>G" "" "likely pathogenic (!)" "ACMG" "0000909429" "0" "90" "18" "19032046" "19032046" "subst" "1.30899E-5" "00006" "GREB1L_000057" "g.19032046G>A" "" "{PMID:Jacquinet 20209:32378186}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.21452085G>A" "" "VUS" "ACMG" "0000909430" "11" "90" "18" "19053121" "19053121" "subst" "0" "00006" "GREB1L_000060" "g.19053121C>T" "" "{PMID:Jacquinet 20209:32378186}" "" "" "father asymptomatic" "Germline" "" "" "0" "" "" "g.21473160C>T" "" "VUS (!)" "ACMG" "0000909431" "0" "90" "18" "19080514" "19080514" "subst" "0" "00006" "GREB1L_000064" "g.19080514G>A" "" "{PMID:Jacquinet 20209:32378186}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.21500553G>A" "" "VUS" "ACMG" "0000909432" "0" "90" "18" "19032130" "19032130" "subst" "0" "00006" "GREB1L_000058" "g.19032130T>C" "" "{PMID:Jacquinet 20209:32378186}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.21452169T>C" "" "VUS" "ACMG" "0000909433" "0" "90" "18" "19079790" "19079790" "subst" "0" "00006" "GREB1L_000062" "g.19079790G>T" "" "{PMID:Jacquinet 20209:32378186}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.21499829G>T" "" "VUS" "ACMG" "0000909434" "0" "90" "18" "18964286" "18964286" "subst" "0.00258081" "00006" "GREB1L_000029" "g.18964286G>A" "" "{PMID:Jacquinet 20209:32378186}" "" "" "" "Germline/De novo (untested)" "" "rs185578147" "0" "" "" "g.21384325G>A" "" "VUS" "ACMG" "0000909435" "0" "90" "18" "18964286" "18964286" "subst" "0.00258081" "00006" "GREB1L_000029" "g.18964286G>A" "" "{PMID:Jacquinet 20209:32378186}" "" "" "" "Germline/De novo (untested)" "" "rs185578147" "0" "" "" "g.21384325G>A" "" "VUS" "ACMG" "0000909436" "11" "90" "18" "18964286" "18964286" "subst" "0.00258081" "00006" "GREB1L_000029" "g.18964286G>A" "" "{PMID:Jacquinet 20209:32378186}" "" "" "" "Germline" "" "rs185578147" "0" "" "" "g.21384325G>A" "" "VUS" "ACMG" "0000909437" "11" "90" "18" "18964286" "18964286" "subst" "0.00258081" "00006" "GREB1L_000029" "g.18964286G>A" "" "{PMID:Jacquinet 20209:32378186}" "" "" "" "Germline" "" "rs185578147" "0" "" "" "g.21384325G>A" "" "VUS" "ACMG" "0000909438" "1" "90" "18" "18964286" "18964286" "subst" "0.00258081" "00006" "GREB1L_000029" "g.18964286G>A" "" "{PMID:Jacquinet 20209:32378186}" "" "" "" "Germline" "" "rs185578147" "0" "" "" "g.21384325G>A" "" "VUS" "ACMG" "0000915007" "0" "30" "18" "19076596" "19076596" "subst" "0.00270145" "02326" "GREB1L_000066" "g.19076596G>A" "" "" "" "GREB1L(NM_001142966.2):c.3328G>A (p.D1110N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915008" "0" "50" "18" "19080082" "19080082" "subst" "0" "02326" "GREB1L_000067" "g.19080082G>A" "" "" "" "GREB1L(NM_001142966.2):c.3784G>A (p.V1262M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926696" "0" "50" "18" "18964179" "18964179" "subst" "0" "02327" "GREB1L_000068" "g.18964179A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926697" "0" "30" "18" "19019473" "19019473" "subst" "0.000151559" "02326" "GREB1L_000069" "g.19019473G>A" "" "" "" "GREB1L(NM_001142966.2):c.833-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926698" "0" "30" "18" "19070081" "19070081" "subst" "0.000887691" "02326" "GREB1L_000041" "g.19070081A>G" "" "" "" "GREB1L(NM_001142966.2):c.2799A>G (p.T933=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926699" "0" "30" "18" "19102676" "19102676" "subst" "0" "02327" "GREB1L_000070" "g.19102676G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969321" "0" "30" "18" "19085500" "19085500" "subst" "0.000105284" "02326" "GREB1L_000071" "g.19085500T>C" "" "" "" "GREB1L(NM_001142966.2):c.4200T>C (p.Y1400=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982966" "0" "30" "18" "19024255" "19024255" "subst" "0.000236217" "01804" "GREB1L_000072" "g.19024255C>G" "" "" "" "GREB1L(NM_001142966.3):c.1278C>G (p.(Cys426Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982967" "0" "50" "18" "19024347" "19024347" "subst" "0.000150236" "01804" "GREB1L_000073" "g.19024347C>T" "" "" "" "GREB1L(NM_001142966.3):c.1370C>T (p.(Thr457Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982968" "0" "30" "18" "19075751" "19075751" "subst" "0" "01804" "GREB1L_000074" "g.19075751A>G" "" "" "" "GREB1L(NM_001142966.3):c.3146+5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003931" "0" "50" "18" "18964260" "18964260" "subst" "6.57981E-6" "01804" "GREB1L_000075" "g.18964260A>G" "" "" "" "GREB1L(NM_001142966.1):c.251A>G (p.(Asn84Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003932" "0" "50" "18" "19020268" "19020268" "subst" "0" "01804" "GREB1L_000076" "g.19020268C>G" "" "" "" "GREB1L(NM_001142966.1):c.988C>G (p.(Arg330Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003933" "0" "50" "18" "19029590" "19029590" "subst" "0" "01804" "GREB1L_000077" "g.19029590G>A" "" "" "" "GREB1L(NM_001142966.1):c.1513G>A (p.(Gly505Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003934" "0" "30" "18" "19032100" "19032100" "subst" "1.96212E-5" "01804" "GREB1L_000078" "g.19032100G>C" "" "" "" "GREB1L(NM_001142966.1):c.1906G>C (p.(Val636Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003935" "0" "50" "18" "19034321" "19034321" "subst" "0" "02326" "GREB1L_000079" "g.19034321T>G" "" "" "" "GREB1L(NM_001142966.2):c.1985-6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003936" "0" "50" "18" "19076524" "19076524" "subst" "3.31961E-5" "01804" "GREB1L_000080" "g.19076524C>T" "" "" "" "GREB1L(NM_001142966.1):c.3256C>T (p.(Arg1086Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003937" "0" "30" "18" "19079876" "19079876" "subst" "0.000397178" "01804" "GREB1L_000081" "g.19079876T>C" "" "" "" "GREB1L(NM_001142966.1):c.3578T>C (p.(Met1193Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003938" "0" "70" "18" "19085529" "19085529" "subst" "0" "02325" "GREB1L_000038" "g.19085529G>C" "" "" "" "GREB1L(NM_001142966.2):c.4228+1G>C, GREB1L(NM_001142966.3):c.4228+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001003939" "0" "30" "18" "19085818" "19085818" "subst" "0" "01804" "GREB1L_000082" "g.19085818G>A" "" "" "" "GREB1L(NM_001142966.1):c.4276G>A (p.(Val1426Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003940" "0" "30" "18" "19093886" "19093886" "subst" "0" "01804" "GREB1L_000083" "g.19093886A>G" "" "" "" "GREB1L(NM_001142966.1):c.4840A>G (p.(Ile1614Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003941" "0" "50" "18" "19093889" "19093889" "subst" "6.72902E-6" "01804" "GREB1L_000084" "g.19093889G>A" "" "" "" "GREB1L(NM_001142966.1):c.4843G>A (p.(Val1615Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027083" "0" "30" "18" "19057144" "19057144" "subst" "0.000519224" "02325" "GREB1L_000085" "g.19057144T>C" "" "" "" "GREB1L(NM_001142966.3):c.2383T>C (p.S795P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027084" "0" "50" "18" "19102705" "19102705" "subst" "6.73727E-6" "02325" "GREB1L_000086" "g.19102705C>T" "" "" "" "GREB1L(NM_001142966.3):c.5695C>T (p.R1899C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030926" "11" "70" "18" "19093842" "19093842" "subst" "0" "03544" "GREB1L_000087" "g.19093842G>A" "" "" "" "" "segregates with phenotype, observed in multiple affected individuals in single family with variable renal abnormalities" "Germline" "yes" "" "0" "" "" "g.21513881G>A" "{CV:4086073}" "pathogenic" "ACMG" "0001042348" "0" "30" "18" "18858347" "18858348" "ins" "0" "01804" "GREB1L_000088" "g.18858347_18858348insTA" "" "" "" "GREB1L(NM_001142966.3):c.-120+35993_-120+35994insTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042349" "0" "50" "18" "19024182" "19024182" "subst" "0" "01804" "GREB1L_000089" "g.19024182C>A" "" "" "" "GREB1L(NM_001142966.3):c.1208-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042350" "0" "50" "18" "19085810" "19085810" "subst" "0" "01804" "GREB1L_000090" "g.19085810G>C" "" "" "" "GREB1L(NM_001142966.3):c.4268G>C (p.(Arg1423Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042351" "0" "30" "18" "19088070" "19088070" "subst" "5.95924E-5" "01804" "GREB1L_000091" "g.19088070C>G" "" "" "" "GREB1L(NM_001142966.3):c.4369-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046687" "0" "90" "18" "19057249" "19057250" "ins" "0" "02326" "GREB1L_000092" "g.19057249_19057250insT" "" "" "" "GREB1L(NM_001142966.2):c.2488_2489insT (p.T830Ifs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes GREB1L ## Count = 109 "{{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}}" "0000058577" "00008918" "30" "2182" "6956" "2182" "6956" "c.2182+6956A>C" "r.(=)" "p.(=)" "i" "0000223248" "00008918" "90" "37" "0" "37" "0" "c.37C>T" "r.(?)" "p.(Arg13*)" "3" "0000223249" "00008918" "90" "383" "0" "383" "0" "c.383G>A" "r.(?)" "p.(Arg128His)" "5" "0000223250" "00008918" "90" "2281" "0" "2281" "0" "c.2281G>C" "r.(?)" "p.(Glu761Gln)" "16" "0000223251" "00008918" "90" "3197" "0" "3197" "0" "c.3197G>C" "r.(?)" "p.(Arg1066Pro)" "21" "0000223252" "00008918" "90" "4000" "0" "4000" "0" "c.4000dup" "r.(?)" "p.(Leu1334Profs*18)" "23" "0000223253" "00008918" "90" "4680" "0" "4680" "0" "c.4680C>A" "r.(?)" "p.(Tyr1560*)" "27" "0000223254" "00008918" "90" "4700" "0" "4700" "0" "c.4700T>C" "r.(?)" "p.(Leu1567Pro)" "27" "0000223255" "00008918" "90" "4991" "0" "4991" "0" "c.4991A>G" "r.(?)" "p.(Tyr1664Cys)" "29" "0000223256" "00008918" "90" "5068" "0" "5068" "0" "c.5068G>A" "r.(?)" "p.(Val1690Met)" "29" "0000241181" "00008918" "90" "1582" "0" "1582" "0" "c.1582del" "r.(?)" "p.(Gln528Argfs*12)" "" "0000241182" "00008918" "90" "1780" "0" "1780" "0" "c.1780G>T" "r.(?)" "p.(Glu594*)" "" "0000241183" "00008918" "90" "2926" "0" "2926" "0" "c.2926C>T" "r.(?)" "p.(Gln976*)" "" "0000241184" "00008918" "90" "4369" "-1" "4369" "-1" "c.4369-1G>C" "r.spl" "p.?" "" "0000241185" "00008918" "90" "4607" "0" "4607" "0" "c.4607A>G" "r.(?)" "p.(His1536Arg)" "" "0000241186" "00008918" "90" "4505" "0" "4505" "0" "c.4505T>C" "r.(?)" "p.(Met1502Thr)" "" "0000241187" "00008918" "90" "4672" "0" "4672" "0" "c.4672C>A" "r.(?)" "p.(Arg1558Ser)" "" "0000241188" "00008918" "90" "2251" "0" "2251" "0" "c.2251C>T" "r.(?)" "p.(Arg751Cys)" "" "0000241189" "00008918" "90" "575" "0" "575" "0" "c.575G>T" "r.(?)" "p.(Arg192Leu)" "" "0000241190" "00008918" "90" "4727" "0" "4727" "0" "c.4727C>T" "r.(?)" "p.(Ala1576Val)" "" "0000241191" "00008918" "90" "4526" "0" "4526" "0" "c.4526A>T" "r.(?)" "p.(Asp1509Val)" "" "0000241192" "00008918" "90" "5323" "0" "5323" "0" "c.5323G>A" "r.(?)" "p.(Asp1775Asn)" "" "0000241193" "00008918" "90" "2252" "0" "2252" "0" "c.2252G>A" "r.(?)" "p.(Arg751His)" "" "0000241194" "00008918" "90" "983" "0" "983" "0" "c.983G>A" "r.(?)" "p.(Arg328Gln)" "" "0000241195" "00008918" "90" "1813" "0" "1813" "0" "c.1813A>C" "r.(?)" "p.(Ser605Arg)" "" "0000241196" "00008918" "90" "2148" "0" "2148" "0" "c.2148G>T" "r.(?)" "p.(Leu716Phe)" "" "0000563975" "00008918" "10" "3555" "0" "3555" "0" "c.3555A>G" "r.(?)" "p.(Glu1185=)" "" "0000563976" "00008918" "30" "5584" "0" "5586" "0" "c.5584_5586dup" "r.(?)" "p.(Leu1862dup)" "" "0000623807" "00008918" "50" "277" "0" "277" "0" "c.277G>A" "r.(?)" "p.(Glu93Lys)" "" "0000681091" "00008918" "50" "1678" "0" "1678" "0" "c.1678G>A" "r.(?)" "p.(Ala560Thr)" "" "0000681092" "00008918" "30" "2690" "8" "2690" "8" "c.2690+8G>A" "r.(=)" "p.(=)" "" "0000681093" "00008918" "30" "4030" "0" "4030" "0" "c.4030C>A" "r.(?)" "p.(Leu1344Ile)" "" "0000682784" "00008918" "90" "2333" "0" "2333" "0" "c.2333T>A" "r.(?)" "p.(Val778Asp)" "" "0000692546" "00008918" "10" "1394" "-6" "1394" "-6" "c.1394-6A>G" "r.(=)" "p.(=)" "" "0000692547" "00008918" "30" "5280" "0" "5280" "0" "c.5280G>C" "r.(?)" "p.(Glu1760Asp)" "" "0000726810" "00008918" "50" "5737" "0" "5737" "0" "c.5737A>G" "r.(?)" "p.(Lys1913Glu)" "" "0000763382" "00008918" "70" "4268" "0" "4268" "0" "c.4268G>A" "r.(?)" "p.(Arg1423Gln)" "" "0000808388" "00008918" "30" "277" "0" "277" "0" "c.277G>A" "r.(?)" "p.(Glu93Lys)" "" "0000808389" "00008918" "70" "4228" "1" "4228" "1" "c.4228+1G>C" "r.spl?" "p.?" "" "0000855195" "00008918" "30" "2799" "0" "2799" "0" "c.2799A>G" "r.(?)" "p.(Thr933=)" "" "0000865588" "00008918" "50" "1595" "0" "1595" "0" "c.1595C>T" "r.(?)" "p.(Ala532Val)" "" "0000865589" "00008918" "30" "1678" "0" "1678" "0" "c.1678G>A" "r.(?)" "p.(Ala560Thr)" "" "0000865590" "00008918" "10" "1852" "0" "1863" "0" "c.1852_1863del" "r.(?)" "p.(Asp618_Asp621del)" "" "0000865591" "00008918" "50" "3323" "0" "3323" "0" "c.3323A>G" "r.(?)" "p.(Asp1108Gly)" "" "0000865592" "00008918" "30" "4711" "0" "4711" "0" "c.4711G>A" "r.(?)" "p.(Gly1571Ser)" "" "0000894397" "00008918" "30" "855" "0" "855" "0" "c.855C>T" "r.(?)" "p.(Ser285=)" "" "0000894398" "00008918" "50" "919" "0" "919" "0" "c.919C>G" "r.(?)" "p.(Pro307Ala)" "" "0000894400" "00008918" "30" "1721" "-12" "1721" "-12" "c.1721-12T>C" "r.(=)" "p.(=)" "" "0000894401" "00008918" "50" "2494" "0" "2494" "0" "c.2494C>T" "r.(?)" "p.(Gln832*)" "" "0000894402" "00008918" "90" "3271" "0" "3278" "0" "c.3271_3278del" "r.(?)" "p.(Ala1091Profs*13)" "" "0000894403" "00008918" "30" "3702" "0" "3702" "0" "c.3702A>G" "r.(?)" "p.(Leu1234=)" "" "0000894404" "00008918" "70" "4751" "0" "4751" "0" "c.4751T>C" "r.(?)" "p.(Leu1584Pro)" "" "0000909334" "00008918" "90" "3041" "0" "3041" "0" "c.3041G>A" "r.(?)" "p.(Gly1014Glu)" "" "0000909341" "00008918" "90" "4368" "0" "4368" "0" "c.4368G>T" "r.spl" "p.?" "" "0000909342" "00008918" "90" "982" "0" "982" "0" "c.982C>T" "r.(?)" "p.(Arg328Ter)" "" "0000909403" "00008918" "70" "848" "0" "848" "0" "c.848A>G" "r.spl?" "p.(Asn283Ser)" "" "0000909404" "00008918" "70" "347" "0" "347" "0" "c.347C>T" "r.(?)" "p.(Thr116Ile)" "" "0000909416" "00008918" "90" "2787" "0" "2788" "0" "c.2787_2788del" "r.(?)" "p.(Asp930ProfsTer12)" "" "0000909417" "00008918" "90" "2787" "0" "2788" "0" "c.2787_2788del" "r.(?)" "p.(Asp930ProfsTer12)" "" "0000909418" "00008918" "90" "2787" "0" "2788" "0" "c.2787_2788del" "r.(?)" "p.(Asp930ProfsTer12)" "" "0000909419" "00008918" "90" "2787" "0" "2788" "0" "c.2787_2788del" "r.(?)" "p.(Asp930ProfsTer12)" "" "0000909420" "00008918" "90" "2227" "0" "2227" "0" "c.2227del" "r.(?)" "p.(Gln743ArgfsTer10)" "" "0000909421" "00008918" "90" "2227" "0" "2227" "0" "c.2227del" "r.(?)" "p.(Gln743ArgfsTer10)" "" "0000909422" "00008918" "90" "2227" "0" "2227" "0" "c.2227del" "r.(?)" "p.(Gln743ArgfsTer10)" "" "0000909423" "00008918" "90" "5198" "0" "5198" "0" "c.5198A>G" "r.(?)" "p.(Asn1733Ser)" "" "0000909424" "00008918" "90" "5198" "0" "5198" "0" "c.5198A>G" "r.(?)" "p.(Asn1733Ser)" "" "0000909425" "00008918" "90" "5198" "0" "5198" "0" "c.5198A>G" "r.(?)" "p.(Asn1733Ser)" "" "0000909426" "00008918" "90" "3970" "-20" "3970" "-20" "c.3970-20A>G" "r.[3969_3970ins3970-19_3970-1,?]" "p.[Val1324Leufs*34,?]" "" "0000909427" "00008918" "90" "3970" "-20" "3970" "-20" "c.3970-20A>G" "r.[3969_3970ins3970-19_3970-1,?]" "p.[Val1324Leufs*34,?]" "" "0000909428" "00008918" "90" "3970" "-20" "3970" "-20" "c.3970-20A>G" "r.[3969_3970ins3970-19_3970-1,?]" "p.[Val1324Leufs*34,?]" "" "0000909429" "00008918" "90" "1852" "0" "1852" "0" "c.1852G>A" "r.(?)" "p.(Asp618Asn)" "" "0000909430" "00008918" "90" "2312" "0" "2312" "0" "c.2312C>T" "r.(?)" "p.(Pro771Leu)" "" "0000909431" "00008918" "90" "3983" "0" "3983" "0" "c.3983G>A" "r.(?)" "p.(Gly1328Asp)" "" "0000909432" "00008918" "90" "1936" "0" "1936" "0" "c.1936T>C" "r.(?)" "p.(Cys646Arg)" "" "0000909433" "00008918" "90" "3492" "0" "3492" "0" "c.3492G>T" "r.spl?" "p.?" "" "0000909434" "00008918" "90" "277" "0" "277" "0" "c.277G>A" "r.spl?" "p.(Glu93Lys)" "" "0000909435" "00008918" "90" "277" "0" "277" "0" "c.277G>A" "r.spl?" "p.(Glu93Lys)" "" "0000909436" "00008918" "90" "277" "0" "277" "0" "c.277G>A" "r.spl?" "p.(Glu93Lys)" "" "0000909437" "00008918" "90" "277" "0" "277" "0" "c.277G>A" "r.spl?" "p.(Glu93Lys)" "" "0000909438" "00008918" "90" "277" "0" "277" "0" "c.277G>A" "r.spl?" "p.(Glu93Lys)" "" "0000915007" "00008918" "30" "3328" "0" "3328" "0" "c.3328G>A" "r.(?)" "p.(Asp1110Asn)" "" "0000915008" "00008918" "50" "3784" "0" "3784" "0" "c.3784G>A" "r.(?)" "p.(Val1262Met)" "" "0000926696" "00008918" "50" "170" "0" "170" "0" "c.170A>G" "r.(?)" "p.(Lys57Arg)" "" "0000926697" "00008918" "30" "833" "-9" "833" "-9" "c.833-9G>A" "r.(=)" "p.(=)" "" "0000926698" "00008918" "30" "2799" "0" "2799" "0" "c.2799A>G" "r.(?)" "p.(Thr933=)" "" "0000926699" "00008918" "30" "5666" "0" "5666" "0" "c.5666G>A" "r.(?)" "p.(Arg1889His)" "" "0000969321" "00008918" "30" "4200" "0" "4200" "0" "c.4200T>C" "r.(?)" "p.(=)" "" "0000982966" "00008918" "30" "1278" "0" "1278" "0" "c.1278C>G" "r.(?)" "p.(Cys426Trp)" "" "0000982967" "00008918" "50" "1370" "0" "1370" "0" "c.1370C>T" "r.(?)" "p.(Thr457Met)" "" "0000982968" "00008918" "30" "3146" "5" "3146" "5" "c.3146+5A>G" "r.spl?" "p.?" "" "0001003931" "00008918" "50" "251" "0" "251" "0" "c.251A>G" "r.(?)" "p.(Asn84Ser)" "" "0001003932" "00008918" "50" "988" "0" "988" "0" "c.988C>G" "r.(?)" "p.(Arg330Gly)" "" "0001003933" "00008918" "50" "1513" "0" "1513" "0" "c.1513G>A" "r.(?)" "p.(Gly505Arg)" "" "0001003934" "00008918" "30" "1906" "0" "1906" "0" "c.1906G>C" "r.(?)" "p.(Val636Leu)" "" "0001003935" "00008918" "50" "1985" "-6" "1985" "-6" "c.1985-6T>G" "r.(=)" "p.(=)" "" "0001003936" "00008918" "50" "3256" "0" "3256" "0" "c.3256C>T" "r.(?)" "p.(Arg1086Trp)" "" "0001003937" "00008918" "30" "3578" "0" "3578" "0" "c.3578T>C" "r.(?)" "p.(Met1193Thr)" "" "0001003938" "00008918" "70" "4228" "1" "4228" "1" "c.4228+1G>C" "r.spl?" "p.?" "" "0001003939" "00008918" "30" "4276" "0" "4276" "0" "c.4276G>A" "r.(?)" "p.(Val1426Ile)" "" "0001003940" "00008918" "30" "4840" "0" "4840" "0" "c.4840A>G" "r.(?)" "p.(Ile1614Val)" "" "0001003941" "00008918" "50" "4843" "0" "4843" "0" "c.4843G>A" "r.(?)" "p.(Val1615Ile)" "" "0001027083" "00008918" "30" "2383" "0" "2383" "0" "c.2383T>C" "r.(?)" "p.(Ser795Pro)" "" "0001027084" "00008918" "50" "5695" "0" "5695" "0" "c.5695C>T" "r.(?)" "p.(Arg1899Cys)" "" "0001030926" "00008918" "70" "4796" "0" "4796" "0" "c.4796G>A" "r.?" "p.(Arg1599His)" "28" "0001042348" "00008918" "30" "-120" "35993" "-120" "35994" "c.-120+35993_-120+35994insTA" "r.(=)" "p.(=)" "" "0001042349" "00008918" "50" "1208" "-3" "1208" "-3" "c.1208-3C>A" "r.spl?" "p.?" "" "0001042350" "00008918" "50" "4268" "0" "4268" "0" "c.4268G>C" "r.(?)" "p.(Arg1423Pro)" "" "0001042351" "00008918" "30" "4369" "-9" "4369" "-9" "c.4369-9C>G" "r.(=)" "p.(=)" "" "0001046687" "00008918" "90" "2488" "0" "2489" "0" "c.2488_2489insT" "r.(?)" "p.(Thr830Ilefs*10)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 56 "{{screeningid}}" "{{variantid}}" "0000032416" "0000058577" "0000133820" "0000223248" "0000133821" "0000223249" "0000133822" "0000223250" "0000133823" "0000223251" "0000133824" "0000223252" "0000133825" "0000223253" "0000133826" "0000223254" "0000133827" "0000223255" "0000133828" "0000223256" "0000147918" "0000241181" "0000147919" "0000241182" "0000147920" "0000241183" "0000147921" "0000241184" "0000147922" "0000241185" "0000147923" "0000241186" "0000147924" "0000241187" "0000147925" "0000241188" "0000147926" "0000241189" "0000147927" "0000241190" "0000147928" "0000241191" "0000147929" "0000241192" "0000147930" "0000241193" "0000147931" "0000241194" "0000147932" "0000241195" "0000147933" "0000241196" "0000308411" "0000682784" "0000429722" "0000909334" "0000429730" "0000909341" "0000429731" "0000909342" "0000429782" "0000909403" "0000429783" "0000909404" "0000429792" "0000909416" "0000429793" "0000909417" "0000429794" "0000909418" "0000429795" "0000909419" "0000429796" "0000909420" "0000429797" "0000909421" "0000429798" "0000909422" "0000429799" "0000909423" "0000429800" "0000909424" "0000429801" "0000909425" "0000429802" "0000909426" "0000429802" "0000909436" "0000429803" "0000909427" "0000429803" "0000909437" "0000429804" "0000909428" "0000429804" "0000909438" "0000429805" "0000909429" "0000429806" "0000909430" "0000429807" "0000909431" "0000429808" "0000909432" "0000429809" "0000909433" "0000429810" "0000909434" "0000429811" "0000909435" "0000466892" "0001030926"