### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GRHL2) # 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}}" "GRHL2" "grainyhead-like 2 (Drosophila)" "8" "q22.3" "unknown" "NG_011971.1" "UD_132119113847" "" "https://www.LOVD.nl/GRHL2" "" "1" "2799" "79977" "608576" "1" "1" "1" "1" "The database is curated by the Montpellier Usher group.
You can directly access the STRC database using: www.LOVD.nl/STRC
If you wish to perform particular analyses, please do not hesitate to contact us. We hope that you will find these databases useful!
This database is one of the ”Retinal and hearing impairment genetic variant databases”.
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/GRHL2_codingDNA.html" "1" "" "
\r\nThis database is one of the ”Retinal and hearing impairment genetic variant databases”." "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00110" "2018-07-20 15:09:52" "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}}" "00008922" "GRHL2" "grainyhead-like 2 (Drosophila)" "001" "NM_024915.3" "" "NP_079191.2" "" "" "" "-330" "4901" "1878" "102504668" "102681954" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{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" "00350" "DFNA1" "deafness, autosomal dominant, type 1" "AD" "124900" "" "" "" "00081" "2014-03-13 13:45:31" "00006" "2021-12-10 21:51:32" "02776" "DFNA28" "deafness, autosomal dominant, type 28 (DFNA-28)" "AD" "608641" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04493" "ECTDS" "dysplasia, ectodermal/short stature syndrome (ECTDS)" "AR" "616029" "" "" "" "00000" "2015-09-23 10:25:22" "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" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" "05413" "PPCD" "dystrophy, corneal, posterior polymorphous (PPCD)" "" "" "" "" "" "00006" "2018-03-24 15:20:11" "" "" "06793" "PPCD4" "Corneal dystrophy, posterior polymorphous, 4" "AD" "618031" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "GRHL2" "00350" "GRHL2" "02776" "GRHL2" "04493" "GRHL2" "05413" "GRHL2" "06793" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00155723" "" "" "" "37" "" "00006" "{PMID:Liskova 2018:29499165}" "9-generation family, 37 affected (18F, 19M)" "F;M" "no" "Czech Republic" "" "0" "" "" "" "29499165-FamC15" "00155724" "" "" "" "3" "" "00006" "{PMID:Liskova 2018:29499165}" "3-generation family, 3 affected (3M)" "M" "no" "Czech Republic" "" "0" "" "" "" "29499165-FamC23" "00155725" "" "" "" "3" "" "00006" "{PMID:Liskova 2018:29499165}" "2-generation family, 3 affected (2F, M)" "F;M" "no" "Czech Republic" "" "0" "" "" "" "29499165-FamC26" "00155726" "" "" "" "1" "" "00006" "{PMID:Liskova 2018:29499165}" "2-generation family, 1 affected" "F" "no" "Czech Republic" "" "0" "" "" "" "29499165-FamC33" "00155727" "" "" "" "1" "" "00006" "{PMID:Liskova 2018:29499165}" "2-generation family, 37 affected (18F, 19M)" "F;M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "29499165-FamB4" "00155728" "" "" "" "2" "" "00006" "{PMID:Liskova 2018:29499165}" "2-generation family, 37 affected (18F, 19M)" "F;M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "29499165-FamB5" "00294537" "" "" "" "109" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294538" "" "" "" "57" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305173" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00316086" "" "" "" "2" "" "00006" "{PMID:Heidet 2017:28566479}" "affected patient and 1st degree relative" "" "" "France" "" "0" "" "" "" "K113" "00316134" "" "" "" "2" "" "00006" "{PMID:Heidet 2017:28566479}" "affected patient and 1st degree relative (deafness)" "" "" "France" "" "0" "" "" "" "K190" "00327090" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB331-650" "00441487" "" "" "" "3" "" "00006" "{PMID:Boucher 2020:33229591}" "family, 3 affected" "" "" "France" "" "0" "" "" "" "PAR032" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00155723" "05413" "00155724" "05413" "00155725" "05413" "00155726" "05413" "00155727" "05413" "00155728" "05413" "00294537" "00198" "00294538" "00198" "00305173" "00198" "00316086" "05342" "00316134" "05342" "00327090" "05086" "00441487" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00350, 02776, 04493, 05086, 05342, 05413, 06793 ## Count = 9 "{{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}}" "0000128105" "05413" "00155723" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "corneal endothelial dystrophy" "" "0000128106" "05413" "00155724" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "corneal endothelial dystrophy" "" "0000128107" "05413" "00155725" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "corneal endothelial dystrophy" "" "0000128108" "05413" "00155726" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "corneal endothelial dystrophy" "" "0000128109" "05413" "00155727" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "corneal endothelial dystrophy" "" "0000128110" "05413" "00155728" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "corneal endothelial dystrophy" "" "0000239833" "05342" "00316086" "00006" "Unknown" "" "vesico-ureteral reflux; preauricular pits, deafness" "" "" "" "" "" "" "" "" "" "CAKUT" "" "0000239881" "05342" "00316134" "00006" "Unknown" "" "renal hypoplasia; renal dysplasia; cysts" "" "" "" "" "" "" "" "" "" "renal hypoplasia" "" "0000330925" "05086" "00441487" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "multiplex family age-related hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000156587" "00155723" "1" "00006" "00006" "2018-03-24 15:32:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES, WGS" "0000156588" "00155724" "1" "00006" "00006" "2018-03-24 15:49:59" "" "" "SEQ" "DNA" "" "" "0000156589" "00155725" "1" "00006" "00006" "2018-03-24 15:49:59" "" "" "SEQ" "DNA" "" "" "0000156590" "00155726" "1" "00006" "00006" "2018-03-24 15:49:59" "" "" "SEQ" "DNA" "" "" "0000156591" "00155727" "1" "00006" "00006" "2018-03-24 15:49:59" "" "" "SEQ" "DNA" "" "" "0000156592" "00155728" "1" "00006" "00006" "2018-03-24 15:49:59" "" "" "SEQ" "DNA" "" "" "0000295705" "00294537" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295706" "00294538" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306302" "00305173" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000317268" "00316086" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000317316" "00316134" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000328304" "00327090" "1" "03611" "03611" "2021-01-20 04:27:40" "" "" "SEQ-NG-I" "DNA" "" "" "0000442973" "00441487" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000156588" "GRHL2" "0000156589" "GRHL2" "0000156590" "GRHL2" "0000156591" "GRHL2" "0000156592" "GRHL2" "0000317268" "GRHL2" "0000317268" "PTGIR" "0000317316" "DEAF1" "0000317316" "GRHL2" "0000317316" "NOTCH2" "0000317316" "PAXIP1" ## 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 = 57 "{{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}}" "0000281132" "0" "10" "8" "102678798" "102678798" "subst" "0.390492" "02325" "GRHL2_000003" "g.102678798C>T" "" "" "" "GRHL2(NM_024915.4):c.1764-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101666570C>T" "" "benign" "" "0000288759" "0" "30" "8" "102611388" "102611388" "subst" "0.00337995" "01943" "GRHL2_000002" "g.102611388C>T" "" "" "" "GRHL2(NM_024915.3):c.1098+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101599160C>T" "" "likely benign" "" "0000288760" "0" "30" "8" "102678859" "102678859" "subst" "0.0017063" "01943" "GRHL2_000004" "g.102678859G>C" "" "" "" "GRHL2(NM_001330593.1):c.1758G>C (p.S586=), GRHL2(NM_024915.3):c.1806G>C (p.S602=), GRHL2(NM_024915.4):c.1806G>C (p.S602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101666631G>C" "" "likely benign" "" "0000288761" "0" "50" "8" "102570910" "102570910" "subst" "0.000239742" "01943" "GRHL2_000001" "g.102570910G>A" "" "" "" "GRHL2(NM_024915.3):c.548G>A (p.R183Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101558682G>A" "" "VUS" "" "0000336894" "0" "30" "8" "102504974" "102504974" "subst" "0.969752" "02327" "GRHL2_000005" "g.102504974C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101492746C>G" "" "likely benign" "" "0000336899" "0" "10" "8" "102678798" "102678798" "subst" "0.390492" "02327" "GRHL2_000003" "g.102678798C>T" "" "" "" "GRHL2(NM_024915.4):c.1764-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101666570C>T" "" "benign" "" "0000336900" "0" "10" "8" "102678972" "102678972" "subst" "0" "02327" "GRHL2_000008" "g.102678972G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101666744G>T" "" "benign" "" "0000346775" "0" "50" "8" "102678842" "102678842" "subst" "0" "02327" "GRHL2_000007" "g.102678842A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101666614A>G" "" "VUS" "" "0000350071" "0" "70" "8" "102555565" "102555565" "subst" "0" "02327" "GRHL2_000006" "g.102555565C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101543337C>A" "" "likely pathogenic" "" "0000359625" "1" "90" "8" "102505561" "102505561" "subst" "0" "00006" "GRHL2_000009" "g.102505561G>T" "" "{PMID:Liskova 2018:29499165}" "" "" "variant disrupts TF binding sites" "Germline" "yes" "" "0" "" "" "g.101493333G>T" "" "pathogenic" "" "0000359626" "1" "90" "8" "102505561" "102505561" "subst" "0" "00006" "GRHL2_000009" "g.102505561G>T" "" "{PMID:Liskova 2018:29499165}" "" "" "variant disrupts TF binding sites" "Germline" "yes" "" "0" "" "" "g.101493333G>T" "" "pathogenic" "" "0000359627" "1" "90" "8" "102505561" "102505561" "subst" "0" "00006" "GRHL2_000009" "g.102505561G>T" "" "{PMID:Liskova 2018:29499165}" "" "" "variant disrupts TF binding sites" "Germline" "yes" "" "0" "" "" "g.101493333G>T" "" "pathogenic" "" "0000359628" "0" "90" "8" "102505561" "102505561" "subst" "0" "00006" "GRHL2_000009" "g.102505561G>T" "" "{PMID:Liskova 2018:29499165}" "" "" "variant disrupts TF binding sites" "De novo" "" "" "0" "" "" "g.101493333G>T" "" "pathogenic" "" "0000359629" "0" "90" "8" "102505274" "102505274" "del" "0" "00006" "GRHL2_000010" "g.102505274del" "" "{PMID:Liskova 2018:29499165}" "" "20+257delT" "variant disrupts TF binding sites" "Germline" "" "" "0" "" "" "g.101493046del" "" "pathogenic" "" "0000359630" "1" "90" "8" "102505150" "102505150" "del" "0" "00006" "GRHL2_000011" "g.102505150del" "" "{PMID:Liskova 2018:29499165}" "" "20+133delA" "variant disrupts TF binding sites" "Germline" "yes" "" "0" "" "" "g.101492922del" "" "pathogenic" "" "0000533337" "0" "30" "8" "102570905" "102570905" "subst" "0.000247867" "01943" "GRHL2_000013" "g.102570905G>A" "" "" "" "GRHL2(NM_024915.3):c.543G>A (p.E181=), GRHL2(NM_024915.4):c.543G>A (p.E181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101558677G>A" "" "likely benign" "" "0000533338" "0" "70" "8" "102571023" "102571023" "subst" "0" "02327" "GRHL2_000014" "g.102571023A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101558795A>T" "" "likely pathogenic" "" "0000533339" "0" "30" "8" "102585965" "102585965" "subst" "0.000743129" "01943" "GRHL2_000015" "g.102585965C>T" "" "" "" "GRHL2(NM_001330593.1):c.756C>T (p.T252=), GRHL2(NM_024915.4):c.804C>T (p.T268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101573737C>T" "" "likely benign" "" "0000533340" "0" "50" "8" "102643944" "102643944" "subst" "0" "02327" "GRHL2_000016" "g.102643944G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101631716G>A" "" "VUS" "" "0000533341" "0" "10" "8" "102649139" "102649139" "subst" "0.00120359" "01943" "GRHL2_000017" "g.102649139G>A" "" "" "" "GRHL2(NM_001330593.1):c.1452G>A (p.T484=), GRHL2(NM_001330593.2):c.1452G>A (p.T484=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101636911G>A" "" "benign" "" "0000533342" "0" "50" "8" "102661693" "102661693" "subst" "0" "02329" "GRHL2_000018" "g.102661693T>A" "" "" "" "GRHL2(NM_024915.4):c.1664T>A (p.L555*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101649465T>A" "" "VUS" "" "0000533343" "0" "30" "8" "102661719" "102661719" "subst" "0.000101659" "01943" "GRHL2_000019" "g.102661719A>T" "" "" "" "GRHL2(NM_001330593.1):c.1642A>T (p.M548L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101649491A>T" "" "likely benign" "" "0000611363" "0" "30" "8" "102505093" "102505098" "del" "0" "01943" "GRHL2_000020" "g.102505093_102505098del" "" "" "" "GRHL2(NM_001330593.1):c.-29+16_-29+21delGTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101492865_101492870del" "" "likely benign" "" "0000611364" "0" "10" "8" "102555474" "102555474" "subst" "0.0257313" "01804" "GRHL2_000021" "g.102555474A>G" "" "" "" "GRHL2(NM_001330593.1):c.-23A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101543246A>G" "" "benign" "" "0000611365" "0" "50" "8" "102570999" "102570999" "subst" "5.69634E-5" "01943" "GRHL2_000022" "g.102570999G>A" "" "" "" "GRHL2(NM_001330593.1):c.589G>A (p.D197N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101558771G>A" "" "VUS" "" "0000611366" "0" "50" "8" "102656388" "102656388" "subst" "0" "02327" "GRHL2_000023" "g.102656388G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101644160G>A" "" "VUS" "" "0000652394" "1" "10" "8" "102555474" "102555474" "subst" "0.0257313" "03575" "GRHL2_000021" "g.102555474A>G" "109/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "109 heterozygous, no homozygous; {DB:CLININrs3735709}" "Germline" "" "rs3735709" "0" "" "" "g.101543246A>G" "" "benign" "" "0000652395" "1" "10" "8" "102631911" "102631911" "subst" "0.0133591" "03575" "GRHL2_000024" "g.102631911G>A" "57/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "57 heterozygous; {DB:CLININrs3779617}" "Germline" "" "rs3779617" "0" "" "" "g.101619683G>A" "" "benign" "" "0000669990" "3" "10" "8" "102631911" "102631911" "subst" "0.0133591" "03575" "GRHL2_000024" "g.102631911G>A" "5/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 homozygous; {DB:CLININrs3779617}" "Germline" "" "rs3779617" "0" "" "" "g.101619683G>A" "" "benign" "" "0000678245" "0" "30" "8" "102571013" "102571013" "subst" "0.00305209" "01804" "GRHL2_000025" "g.102571013C>T" "" "" "" "GRHL2(NM_001330593.1):c.603C>T (p.(Ser201=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678246" "0" "30" "8" "102649139" "102649139" "subst" "0.00120359" "02326" "GRHL2_000017" "g.102649139G>A" "" "" "" "GRHL2(NM_001330593.1):c.1452G>A (p.T484=), GRHL2(NM_001330593.2):c.1452G>A (p.T484=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678247" "0" "30" "8" "102649168" "102649168" "subst" "0.00117083" "02326" "GRHL2_000026" "g.102649168A>G" "" "" "" "GRHL2(NM_001330593.2):c.1469+12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000695603" "0" "50" "8" "102570910" "102570910" "subst" "0.000239742" "03779" "GRHL2_000001" "g.102570910G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs142411476" "0" "" "" "" "" "VUS" "" "0000699792" "0" "50" "8" "0" "0" "" "0" "00006" "RP1_000000" "g.?" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000699932" "0" "50" "8" "0" "0" "" "0" "00006" "RP1_000000" "g.?" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000712250" "0" "70" "8" "102656450" "102656450" "subst" "4.08477E-6" "03611" "GRHL2_000027" "g.102656450C>T" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PVS1" "Germline/De novo (untested)" "" "" "0" "" "" "g.101644222C>T" "" "VUS" "ACMG" "0000721742" "0" "30" "8" "102586059" "102586059" "subst" "2.43742E-5" "02326" "GRHL2_000028" "g.102586059G>A" "" "" "" "GRHL2(NM_001330593.2):c.843+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803363" "0" "30" "8" "102555646" "102555646" "subst" "0" "01943" "GRHL2_000029" "g.102555646G>A" "" "" "" "GRHL2(NM_024915.3):c.198G>A (p.L66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803364" "0" "30" "8" "102570816" "102570816" "subst" "0.000454959" "02326" "GRHL2_000012" "g.102570816G>A" "" "" "" "GRHL2(NM_024915.4):c.454G>A (p.V152M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803365" "0" "30" "8" "102582590" "102582590" "subst" "8.12453E-6" "01943" "GRHL2_000030" "g.102582590G>A" "" "" "" "GRHL2(NM_024915.3):c.702G>A (p.G234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803366" "0" "70" "8" "102631927" "102631927" "subst" "0" "02327" "GRHL2_000031" "g.102631927T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000860999" "0" "50" "8" "102644572" "102644572" "subst" "0" "02327" "GRHL2_000032" "g.102644572A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888096" "0" "30" "8" "102570779" "102570779" "subst" "8.12387E-6" "02326" "GRHL2_000033" "g.102570779C>T" "" "" "" "GRHL2(NM_024915.4):c.417C>T (p.Y139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888097" "0" "30" "8" "102585965" "102585965" "subst" "0.000743129" "02326" "GRHL2_000015" "g.102585965C>T" "" "" "" "GRHL2(NM_001330593.1):c.756C>T (p.T252=), GRHL2(NM_024915.4):c.804C>T (p.T268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888098" "0" "30" "8" "102678859" "102678859" "subst" "0.0017063" "02326" "GRHL2_000004" "g.102678859G>C" "" "" "" "GRHL2(NM_001330593.1):c.1758G>C (p.S586=), GRHL2(NM_024915.3):c.1806G>C (p.S602=), GRHL2(NM_024915.4):c.1806G>C (p.S602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912853" "0" "30" "8" "102570905" "102570905" "subst" "0.000247867" "02326" "GRHL2_000013" "g.102570905G>A" "" "" "" "GRHL2(NM_024915.3):c.543G>A (p.E181=), GRHL2(NM_024915.4):c.543G>A (p.E181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912854" "0" "50" "8" "102631881" "102631881" "subst" "4.06736E-6" "02325" "GRHL2_000034" "g.102631881C>T" "" "" "" "GRHL2(NM_024915.4):c.1213C>T (p.P405S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912855" "0" "50" "8" "102656387" "102656387" "subst" "2.84317E-5" "02327" "GRHL2_000035" "g.102656387C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924804" "0" "70" "8" "102564950" "102564950" "subst" "0" "02327" "GRHL2_000036" "g.102564950G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000924805" "0" "30" "8" "102644485" "102644485" "subst" "0" "02326" "GRHL2_000037" "g.102644485A>G" "" "" "" "GRHL2(NM_024915.4):c.1377A>G (p.L459=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924806" "0" "30" "8" "102678916" "102678916" "subst" "7.31743E-5" "02326" "GRHL2_000038" "g.102678916G>A" "" "" "" "GRHL2(NM_024915.4):c.1863G>A (p.T621=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000944332" "0" "70" "8" "102589675" "102589676" "del" "0" "00006" "GRHL2_000039" "g.102589675_102589676del" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101577447_101577448del" "" "likely pathogenic (dominant)" "" "0000948991" "0" "30" "8" "102586004" "102586004" "subst" "5.27927E-5" "02326" "GRHL2_000040" "g.102586004C>T" "" "" "" "GRHL2(NM_024915.4):c.843C>T (p.S281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977963" "0" "30" "8" "102555655" "102555655" "subst" "0" "02326" "GRHL2_000042" "g.102555655C>T" "" "" "" "GRHL2(NM_024915.4):c.207C>T (p.D69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977964" "0" "30" "8" "102631911" "102631911" "subst" "0.0133591" "01804" "GRHL2_000024" "g.102631911G>A" "" "" "" "GRHL2(NM_024915.4):c.1243G>A (p.(Val415Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996835" "0" "50" "8" "102631813" "102631813" "subst" "0" "02327" "GRHL2_000043" "g.102631813A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025468" "0" "70" "8" "102564949" "102564949" "subst" "0" "02327" "GRHL2_000044" "g.102564949C>T" "" "" "" "" "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 GRHL2 ## Count = 57 "{{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}}" "0000281132" "00008922" "10" "1764" "-19" "1764" "-19" "c.1764-19C>T" "r.(=)" "p.(=)" "" "0000288759" "00008922" "30" "1098" "9" "1098" "9" "c.1098+9C>T" "r.(=)" "p.(=)" "" "0000288760" "00008922" "30" "1806" "0" "1806" "0" "c.1806G>C" "r.(?)" "p.(Ser602=)" "" "0000288761" "00008922" "50" "548" "0" "548" "0" "c.548G>A" "r.(?)" "p.(Arg183Gln)" "" "0000336894" "00008922" "30" "-24" "0" "-24" "0" "c.-24C>G" "r.(?)" "p.(=)" "" "0000336899" "00008922" "10" "1764" "-19" "1764" "-19" "c.1764-19C>T" "r.(=)" "p.(=)" "" "0000336900" "00008922" "10" "1919" "0" "1919" "0" "c.*41G>T" "r.(=)" "p.(=)" "" "0000346775" "00008922" "50" "1789" "0" "1789" "0" "c.1789A>G" "r.(?)" "p.(Ile597Val)" "" "0000350071" "00008922" "70" "117" "0" "117" "0" "c.117C>A" "r.(?)" "p.(Tyr39Ter)" "" "0000359625" "00008922" "90" "20" "544" "20" "544" "c.20+544G>T" "r.(=)" "p.(=)" "1i" "0000359626" "00008922" "90" "20" "544" "20" "544" "c.20+544G>T" "r.(=)" "p.(=)" "1i" "0000359627" "00008922" "90" "20" "544" "20" "544" "c.20+544G>T" "r.(=)" "p.(=)" "1i" "0000359628" "00008922" "90" "20" "544" "20" "544" "c.20+544G>T" "r.(=)" "p.(=)" "1i" "0000359629" "00008922" "90" "20" "257" "20" "257" "c.20+257del" "r.(=)" "p.(=)" "1i" "0000359630" "00008922" "90" "20" "133" "20" "133" "c.20+133del" "r.(=)" "p.(=)" "1i" "0000533337" "00008922" "30" "543" "0" "543" "0" "c.543G>A" "r.(?)" "p.(Glu181=)" "" "0000533338" "00008922" "70" "661" "0" "661" "0" "c.661A>T" "r.(?)" "p.(Lys221Ter)" "" "0000533339" "00008922" "30" "804" "0" "804" "0" "c.804C>T" "r.(?)" "p.(Thr268=)" "" "0000533340" "00008922" "50" "1337" "0" "1337" "0" "c.1337G>A" "r.(?)" "p.(Cys446Tyr)" "" "0000533341" "00008922" "10" "1500" "0" "1500" "0" "c.1500G>A" "r.(?)" "p.(Thr500=)" "" "0000533342" "00008922" "50" "1664" "0" "1664" "0" "c.1664T>A" "r.(?)" "p.(Leu555Ter)" "" "0000533343" "00008922" "30" "1690" "0" "1690" "0" "c.1690A>T" "r.(?)" "p.(Met564Leu)" "" "0000611363" "00008922" "30" "20" "76" "20" "81" "c.20+76_20+81del" "r.(=)" "p.(=)" "" "0000611364" "00008922" "10" "26" "0" "26" "0" "c.26A>G" "r.(?)" "p.(Lys9Arg)" "" "0000611365" "00008922" "50" "637" "0" "637" "0" "c.637G>A" "r.(?)" "p.(Asp213Asn)" "" "0000611366" "00008922" "50" "1547" "0" "1547" "0" "c.1547G>A" "r.(?)" "p.(Arg516Gln)" "" "0000652394" "00008922" "10" "26" "0" "26" "0" "c.26A>G" "r.(?)" "p.(Lys9Arg)" "" "0000652395" "00008922" "10" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Val415Ile)" "" "0000669990" "00008922" "10" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Val415Ile)" "" "0000678245" "00008922" "30" "651" "0" "651" "0" "c.651C>T" "r.(?)" "p.(Ser217=)" "" "0000678246" "00008922" "30" "1500" "0" "1500" "0" "c.1500G>A" "r.(?)" "p.(Thr500=)" "" "0000678247" "00008922" "30" "1517" "12" "1517" "12" "c.1517+12A>G" "r.(=)" "p.(=)" "" "0000695603" "00008922" "50" "548" "0" "548" "0" "c.548G>A" "r.(?)" "p.(Arg183Gln))" "" "0000699792" "00008922" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Lys419Glu)" "" "0000699932" "00008922" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Gly386Arg)" "" "0000712250" "00008922" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537*)" "" "0000721742" "00008922" "30" "891" "7" "891" "7" "c.891+7G>A" "r.(=)" "p.(=)" "" "0000803363" "00008922" "30" "198" "0" "198" "0" "c.198G>A" "r.(?)" "p.(Leu66=)" "" "0000803364" "00008922" "30" "454" "0" "454" "0" "c.454G>A" "r.(?)" "p.(Val152Met)" "" "0000803365" "00008922" "30" "702" "0" "702" "0" "c.702G>A" "r.(?)" "p.(Gly234=)" "" "0000803366" "00008922" "70" "1257" "2" "1257" "2" "c.1257+2T>G" "r.spl?" "p.?" "" "0000860999" "00008922" "50" "1464" "0" "1464" "0" "c.1464A>C" "r.(?)" "p.(Ala488=)" "" "0000888096" "00008922" "30" "417" "0" "417" "0" "c.417C>T" "r.(?)" "p.(Tyr139=)" "" "0000888097" "00008922" "30" "804" "0" "804" "0" "c.804C>T" "r.(?)" "p.(Thr268=)" "" "0000888098" "00008922" "30" "1806" "0" "1806" "0" "c.1806G>C" "r.(?)" "p.(Ser602=)" "" "0000912853" "00008922" "30" "543" "0" "543" "0" "c.543G>A" "r.(?)" "p.(Glu181=)" "" "0000912854" "00008922" "50" "1213" "0" "1213" "0" "c.1213C>T" "r.(?)" "p.(Pro405Ser)" "" "0000912855" "00008922" "50" "1546" "0" "1546" "0" "c.1546C>T" "r.(?)" "p.(Arg516Trp)" "" "0000924804" "00008922" "70" "224" "0" "224" "0" "c.224G>A" "r.(?)" "p.(Arg75Gln)" "" "0000924805" "00008922" "30" "1377" "0" "1377" "0" "c.1377A>G" "r.(?)" "p.(Leu459=)" "" "0000924806" "00008922" "30" "1863" "0" "1863" "0" "c.1863G>A" "r.(?)" "p.(Thr621=)" "" "0000944332" "00008922" "70" "931" "0" "932" "0" "c.931_932del" "r.(?)" "p.(Asp311Ter)" "" "0000948991" "00008922" "30" "843" "0" "843" "0" "c.843C>T" "r.(?)" "p.(=)" "" "0000977963" "00008922" "30" "207" "0" "207" "0" "c.207C>T" "r.(?)" "p.(=)" "" "0000977964" "00008922" "30" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Val415Ile)" "" "0000996835" "00008922" "50" "1145" "0" "1145" "0" "c.1145A>T" "r.(?)" "p.(Lys382Ile)" "" "0001025468" "00008922" "70" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Arg75*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000156587" "0000359625" "0000156588" "0000359626" "0000156589" "0000359627" "0000156590" "0000359628" "0000156591" "0000359629" "0000156592" "0000359630" "0000295705" "0000652394" "0000295706" "0000652395" "0000306302" "0000669990" "0000317268" "0000699792" "0000317316" "0000699932" "0000328304" "0000712250" "0000442973" "0000944332"