### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EGR2) # 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}}" "EGR2" "early growth response 2" "10" "q21.1" "unknown" "LRG_239" "UD_132084464665" "" "https://www.LOVD.nl/EGR2" "Inherited Peripheral Neuropathies databases (IPNMDB) " "1" "3239" "1959" "129010" "1" "1" "1" "1" "This database is one of the gene variant databases from the:.\r\nVariants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB." "" "g" "https://databases.lovd.nl/shared/refseq/EGR2_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2012-05-23 00:00:00" "00006" "2019-02-05 11:39:53" "00006" "2022-01-06 14:26:15" ## 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}}" "00006939" "EGR2" "transcript variant 1" "004" "NM_000399.3" "" "NP_000390.2" "" "" "" "-337" "2642" "1431" "64576126" "64571756" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "01387" "DejerineSottas" "Dejerine-Sottas disease (hypertrophic neuropathy)" "AD;AR" "145900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-01-06 13:53:03" "02535" "CHN1" "neuropathy, hypomyelinating, congenital, type 1" "AD;AR" "605253" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02690" "CMT1D" "Charcot-Marie-Tooth disease, type ID (CMT-1D)" "AD" "607678" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "EGR2" "01387" "EGR2" "02535" "EGR2" "02690" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00035677" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035678" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00218994" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat4" "00218995" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat5" "00219062" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat72" "00314289" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00315495" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "170351" "00397524" "" "" "" "6" "" "04212" "{PMID:Sevilla 2015:26204789}" "4-generation family, 6 affected (3F, 3M)" "F" "yes" "Spain" "82y" "0" "" "" "-" "CMT-248PatII:2" "00397525" "" "" "00397524" "1" "" "04212" "{PMID:Sevilla 2015:26204789}" "" "F" "yes" "Spain" ">72y" "0" "" "" "" "CMT-248PatII:7" "00397526" "" "" "00397524" "1" "" "04212" "{PMID:Sevilla 2015:26204789}" "" "M" "no" "Spain" ">56y" "0" "" "" "" "CMT-248PatIII:1" "00397527" "" "" "00397524" "1" "" "04212" "{PMID:Sevilla 2015:26204789}" "" "M" "no" "Spain" ">41y" "0" "" "" "" "CMT-248PatIII:13" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00218994" "05113" "00218995" "05113" "00219062" "05113" "00314289" "05126" "00315495" "02690" "00397524" "05113" "00397525" "05113" "00397526" "05113" "00397527" "05113" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01387, 02535, 02690, 05113, 05126 ## Count = 8 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000167551" "05113" "00218994" "00006" "Unknown" "" "CMT1D" "" "" "" "" "" "" "" "CMT-1D" "Charcot-Marie-Tooth diseae" "0000167552" "05113" "00218995" "00006" "Unknown" "" "CMT1D; no family history" "" "" "" "" "" "" "" "CMT-1D" "Charcot-Marie-Tooth diseae" "0000167619" "05113" "00219062" "00006" "Unknown" "" "CMT4G" "" "" "" "" "" "" "" "CMT-4G" "Charcot-Marie-Tooth diseae" "0000239246" "02690" "00315495" "01164" "Unknown" "" "Duane anomaly, Muscular hypotonia, Motor delay" "" "" "" "" "" "" "" "" "2y" "0000291676" "05113" "00397524" "04212" "Familial, autosomal dominant" "67y" "see paper; ..., distal lower limb muscle weakness (HP:0009053); Upper limb muscle weakness (HP:0003484); Steppage gait (HP:0003376); Distal sensory loss (HP:0002936)" "30y" "30y" "distal lower limb muscle weakness HP:0009053" "-" "" "" "" "CMT1D" "" "0000291677" "05113" "00397525" "04212" "Familial, autosomal dominant" "52y" "see paper; ..., distal lower limb muscle weakness (HP:0009053); Upper limb muscle weakness (HP:0003484); Steppage gait (HP:0003376); Distal sensory loss (HP:0002936)" "20y" "52y" "distal lower limb muscle weakness (HP:0009053)" "-" "" "" "" "CMT1D" "Charcot-Marie-Tooth disease" "0000291678" "05113" "00397526" "04212" "Familial, autosomal dominant" "35y" "see paper; ..., distal lower limb muscle weakness HP:0009053; Upper limb muscle weakness HP:0003484; Distal sensory loss HP:0002936" "20y" "35y" "distal lower limb muscle weakness HP:0009053" "" "" "" "" "CMT1D" "Charcot-Marie-Tooth disease" "0000291679" "05113" "00397527" "04212" "Familial, autosomal dominant" "24y" "see paper ..." "" "" "" "" "" "" "" "CMT1D" "Charcot-Marie-Tooth disease" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000035747" "00035677" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035748" "00035678" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000220066" "00218994" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000220067" "00218995" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000220134" "00219062" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000315462" "00314289" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000316672" "00315495" "1" "01164" "01164" "2020-10-27 10:15:33" "" "" "SEQ-NG-I" "DNA" "Germline" "" "0000398764" "00397524" "1" "04212" "04212" "2021-12-23 11:22:11" "" "" "SEQ" "DNA" "" "" "0000398765" "00397525" "1" "04212" "04212" "2021-12-23 11:28:57" "" "" "SEQ" "DNA" "" "" "0000398766" "00397526" "1" "04212" "04212" "2021-12-23 11:34:55" "" "" "SEQ" "DNA" "" "" "0000398767" "00397527" "1" "04212" "04212" "2021-12-23 11:41:23" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000035747" "EGR2" "0000035748" "EGR2" "0000220066" "EGR2" "0000220067" "EGR2" "0000220134" "EGR2" "0000220134" "HK1" "0000315462" "EGR2" "0000316672" "EGR2" "0000398764" "EGR2" "0000398765" "EGR2" "0000398766" "EGR2" "0000398767" "EGR2" ## 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 = 32 "{{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}}" "0000062872" "1" "10" "10" "64573771" "64573771" "subst" "0.99624" "01164" "EGR2_000002" "g.64573771C>T" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs224083" "0" "" "" "g.62814011C>T" "" "benign" "" "0000062873" "1" "50" "10" "64573163" "64573163" "subst" "0.00000406875" "01164" "EGR2_000001" "g.64573163T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.62813403T>C" "" "VUS" "" "0000246951" "0" "30" "10" "64578849" "64578849" "subst" "0" "02330" "EGR2_000016" "g.64578849A>T" "" "" "" "EGR2(NM_001136178.1):c.-148+17T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62819089A>T" "" "likely benign" "" "0000246955" "0" "90" "10" "64573595" "64573595" "subst" "0" "02330" "EGR2_000015" "g.64573595A>T" "" "" "" "EGR2(NM_000399.3):c.803T>A (p.I268N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62813835A>T" "" "pathogenic" "" "0000246957" "0" "90" "10" "64573252" "64573252" "subst" "0" "02330" "EGR2_000014" "g.64573252A>C" "" "" "" "EGR2(NM_000399.3):c.1146T>G (p.S382R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62813492A>C" "" "pathogenic" "" "0000265832" "0" "90" "10" "64573334" "64573334" "subst" "0" "02330" "EGR2_000012" "g.64573334T>A" "" "" "" "EGR2(NM_000399.3):c.1064A>T (p.D355V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62813574T>A" "" "pathogenic" "" "0000265833" "0" "90" "10" "64573323" "64573323" "subst" "0" "02330" "EGR2_000011" "g.64573323G>A" "" "" "" "EGR2(NM_000399.3):c.1075C>T (p.R359W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62813563G>A" "" "pathogenic" "" "0000265834" "0" "90" "10" "64573322" "64573322" "subst" "0" "02330" "EGR2_000010" "g.64573322C>T" "" "" "" "EGR2(NM_000399.3):c.1076G>A (p.R359Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62813562C>T" "" "pathogenic" "" "0000265835" "0" "10" "10" "64573312" "64573312" "subst" "0.04013" "02330" "EGR2_000009" "g.64573312T>G" "" "" "" "EGR2(NM_000399.3):c.1086A>C (p.R362=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62813552T>G" "" "benign" "" "0000265836" "0" "90" "10" "64573257" "64573257" "subst" "0" "02330" "EGR2_000008" "g.64573257G>A" "" "" "" "EGR2(NM_000399.3):c.1141C>T (p.R381C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62813497G>A" "" "pathogenic" "" "0000265837" "0" "90" "10" "64573256" "64573256" "subst" "0" "02330" "EGR2_000007" "g.64573256C>T" "" "" "" "EGR2(NM_000399.3):c.1142G>A (p.R381H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62813496C>T" "" "pathogenic" "" "0000265838" "0" "90" "10" "64573251" "64573251" "subst" "0" "02330" "EGR2_000006" "g.64573251C>A" "" "" "" "EGR2(NM_000399.3):c.1147G>T (p.D383Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62813491C>A" "" "pathogenic" "" "0000265839" "0" "90" "10" "64573173" "64573173" "subst" "0" "02330" "EGR2_000005" "g.64573173G>A" "" "" "" "EGR2(NM_000399.3):c.1225C>T (p.R409W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62813413G>A" "" "pathogenic" "" "0000265840" "0" "90" "10" "64573164" "64573164" "subst" "0" "02330" "EGR2_000004" "g.64573164C>T" "" "" "" "EGR2(NM_000399.3):c.1234G>A (p.E412K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62813404C>T" "" "pathogenic" "" "0000265841" "0" "90" "10" "64573046" "64573046" "subst" "0.00107456" "02330" "EGR2_000003" "g.64573046C>A" "" "" "" "EGR2(NM_000399.3):c.1352G>T (p.G451V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62813286C>A" "" "pathogenic" "" "0000265842" "0" "10" "10" "64573771" "64573771" "subst" "0.99624" "02330" "EGR2_000002" "g.64573771C>T" "" "" "" "EGR2(NM_000399.3):c.627G>A (p.P209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62814011C>T" "" "benign" "" "0000267785" "0" "10" "10" "64573771" "64573771" "subst" "0.99624" "02325" "EGR2_000002" "g.64573771C>T" "" "" "" "EGR2(NM_000399.3):c.627G>A (p.P209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62814011C>T" "" "benign" "" "0000344070" "0" "50" "10" "64573333" "64573333" "subst" "0" "02327" "EGR2_000013" "g.64573333G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62813573G>C" "" "VUS" "" "0000454959" "1" "90" "10" "64573323" "64573323" "subst" "0" "00006" "EGR2_000011" "g.64573323G>A" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.62813563G>A" "" "pathogenic" "" "0000454960" "1" "90" "10" "64573256" "64573256" "subst" "0" "00006" "EGR2_000007" "g.64573256C>T" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.62813496C>T" "" "pathogenic" "" "0000455032" "1" "90" "10" "64573046" "64573046" "subst" "0.00107456" "00006" "EGR2_000003" "g.64573046C>A" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "1252G>T (Gly451Val)" "" "Germline" "" "" "0" "" "" "g.62813286C>A" "" "pathogenic" "" "0000540177" "0" "50" "10" "64573566" "64573566" "subst" "0.000135845" "02330" "EGR2_000017" "g.64573566C>T" "" "" "" "EGR2(NM_000399.3):c.832G>A (p.A278T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62813806C>T" "" "VUS" "" "0000540178" "0" "50" "10" "64573733" "64573733" "subst" "0.0000243635" "02330" "EGR2_000018" "g.64573733A>G" "" "" "" "EGR2(NM_000399.3):c.665T>C (p.M222T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62813973A>G" "" "VUS" "" "0000540179" "0" "30" "10" "64575641" "64575641" "subst" "0.00000406861" "01804" "EGR2_000019" "g.64575641T>C" "" "" "" "EGR2(NM_000399.3):c.149A>G (p.(Gln50Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62815881T>C" "" "likely benign" "" "0000678855" "0" "50" "10" "64573246" "64573246" "subst" "0" "02327" "EGR2_000020" "g.64573246G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000697551" "0" "70" "10" "64573127" "64573130" "del" "0" "00006" "EGR2_000021" "g.64573127_64573130del" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.62813367_62813370del" "" "likely pathogenic" "" "0000698833" "0" "70" "10" "64573164" "64573164" "subst" "0" "01164" "EGR2_000004" "g.64573164C>T" "" "" "" "" "ACMG class 4: PS3_moderat, PM1, PM2, PP3" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000722854" "0" "50" "10" "64573011" "64573011" "subst" "0.000034371" "01943" "ADO_000001" "g.64573011C>T" "" "" "" "EGR2(NM_000399.3):c.1387G>A (p.G463R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000830996" "10" "90" "10" "64573172" "64573172" "subst" "0" "04212" "EGR2_000022" "g.64573172C>T" "" "{PMID:Sevilla 2015:26204789}" "" "" "" "Germline" "yes" "" "0" "" "" "g.62813412C>T" "" "pathogenic (dominant)" "" "0000830997" "10" "90" "10" "64573172" "64573172" "subst" "0" "04212" "EGR2_000022" "g.64573172C>T" "" "{PMID:Sevilla 2015:26204789}" "" "" "" "Germline" "yes" "" "0" "" "" "g.62813412C>T" "" "pathogenic (dominant)" "" "0000830998" "21" "90" "10" "64573172" "64573172" "subst" "0" "04212" "EGR2_000022" "g.64573172C>T" "" "{PMID:Sevilla 2015:26204789}" "" "" "" "Germline" "yes" "" "0" "" "" "g.62813412C>T" "" "pathogenic (dominant)" "" "0000830999" "21" "90" "10" "64573172" "64573172" "subst" "0" "04212" "EGR2_000022" "g.64573172C>T" "" "{PMID:Sevilla 2015:26204789}" "" "" "" "Germline" "yes" "" "0" "" "" "g.62813412C>T" "" "pathogenic (dominant)" "" ## 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 EGR2 ## Count = 32 "{{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}}" "0000062872" "00006939" "10" "627" "0" "627" "0" "c.627G>A" "r.(=)" "p.(=)" "" "0000062873" "00006939" "50" "1235" "0" "1235" "0" "c.1235A>G" "r.(=)" "p.(Glu412Gly)" "" "0000246951" "00006939" "30" "-3060" "0" "-3060" "0" "c.-3060T>A" "r.(?)" "p.(=)" "" "0000246955" "00006939" "90" "803" "0" "803" "0" "c.803T>A" "r.(?)" "p.(Ile268Asn)" "" "0000246957" "00006939" "90" "1146" "0" "1146" "0" "c.1146T>G" "r.(?)" "p.(Ser382Arg)" "" "0000265832" "00006939" "90" "1064" "0" "1064" "0" "c.1064A>T" "r.(?)" "p.(Asp355Val)" "" "0000265833" "00006939" "90" "1075" "0" "1075" "0" "c.1075C>T" "r.(?)" "p.(Arg359Trp)" "" "0000265834" "00006939" "90" "1076" "0" "1076" "0" "c.1076G>A" "r.(?)" "p.(Arg359Gln)" "" "0000265835" "00006939" "10" "1086" "0" "1086" "0" "c.1086A>C" "r.(?)" "p.(Arg362=)" "" "0000265836" "00006939" "90" "1141" "0" "1141" "0" "c.1141C>T" "r.(?)" "p.(Arg381Cys)" "" "0000265837" "00006939" "90" "1142" "0" "1142" "0" "c.1142G>A" "r.(?)" "p.(Arg381His)" "" "0000265838" "00006939" "90" "1147" "0" "1147" "0" "c.1147G>T" "r.(?)" "p.(Asp383Tyr)" "" "0000265839" "00006939" "90" "1225" "0" "1225" "0" "c.1225C>T" "r.(?)" "p.(Arg409Trp)" "" "0000265840" "00006939" "90" "1234" "0" "1234" "0" "c.1234G>A" "r.(?)" "p.(Glu412Lys)" "" "0000265841" "00006939" "90" "1352" "0" "1352" "0" "c.1352G>T" "r.(?)" "p.(Gly451Val)" "" "0000265842" "00006939" "10" "627" "0" "627" "0" "c.627=" "r.(=)" "p.(Pro209=)" "" "0000267785" "00006939" "10" "627" "0" "627" "0" "c.627=" "r.(=)" "p.(Pro209=)" "" "0000344070" "00006939" "50" "1065" "0" "1065" "0" "c.1065C>G" "r.(?)" "p.(Asp355Glu)" "" "0000454959" "00006939" "90" "1075" "0" "1075" "0" "c.1075C>T" "r.(?)" "p.(Arg359Trp)" "" "0000454960" "00006939" "90" "1142" "0" "1142" "0" "c.1142G>A" "r.(?)" "p.(Arg381His)" "" "0000455032" "00006939" "90" "1352" "0" "1352" "0" "c.1352G>T" "r.(?)" "p.(Gly451Val)" "" "0000540177" "00006939" "50" "832" "0" "832" "0" "c.832G>A" "r.(?)" "p.(Ala278Thr)" "" "0000540178" "00006939" "50" "665" "0" "665" "0" "c.665T>C" "r.(?)" "p.(Met222Thr)" "" "0000540179" "00006939" "30" "149" "0" "149" "0" "c.149A>G" "r.(?)" "p.(Gln50Arg)" "" "0000678855" "00006939" "50" "1152" "0" "1152" "0" "c.1152C>A" "r.(?)" "p.(His384Gln)" "" "0000697551" "00006939" "70" "1271" "0" "1274" "0" "c.1271_1274del" "r.(?)" "p.(Lys424Serfs*110)" "" "0000698833" "00006939" "70" "1234" "0" "1234" "0" "c.1234G>A" "r.(?)" "p.(Glu412Lys)" "2" "0000722854" "00006939" "50" "1387" "0" "1387" "0" "c.1387G>A" "r.(?)" "p.(Gly463Arg)" "" "0000830996" "00006939" "90" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Arg409Gln)" "" "0000830997" "00006939" "90" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Arg409Gln)" "" "0000830998" "00006939" "90" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Arg409Gln)" "" "0000830999" "00006939" "90" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Arg409Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000035747" "0000062872" "0000035748" "0000062873" "0000220066" "0000454959" "0000220067" "0000454960" "0000220134" "0000455032" "0000315462" "0000697551" "0000316672" "0000698833" "0000398764" "0000830996" "0000398765" "0000830997" "0000398766" "0000830998" "0000398767" "0000830999"