### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GJB2) # 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}}" "GJB2" "gap junction protein beta 2" "13" "q12.11" "unknown" "NG_008358.1" "UD_144536355233" "" "" "" "1" "4284" "2706" "121011" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2020-12-10 14:34:51" "" "" "00005" "2021-08-30 13:24:59" ## 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}}" "00000062" "GJB2" "gap junction protein beta 2" "001" "NM_004004.6" "" "NP_003995.2" "" "" "" "-178" "2112" "681" "20192938" "20187470" "00001" "2020-12-10 14:35:38" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00040" "NSHL" "non-syndromic hearing loss" "" "" "" "" "" "00001" "2020-12-10 14:34:25" "" "" "00108" "PDS" "Pendred syndrome" "AR" "274600" "ears" "" "" "00001" "2021-04-07 10:44:17" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "GJB2" "00040" "GJB2" "00108" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Remarks_Non_Public}}" "{{Individual/Origin/Geographic}}" "{{Individual/Origin/Ethnic}}" "{{Individual/Origin/Population}}" "{{Individual/Gender}}" "00000242" "" "" "" "1" "" "00002" "{PMID:Siti Aishah Zainal et al. (2012):22613756}" "" "" "Malaysia" "Malay" "Kelantan" "" "00000258" "" "" "" "1" "" "00002" "{PMID:A Asma et al. (2011):22106692}" "" "" "Malaysia" "" "" "" "00000273" "" "" "" "1" "" "00002" "{PMID:B H I Ruszymah et al. (2005):16379178}" "" "" "Malaysia" "Malay" "" "M" "00000274" "" "" "" "1" "" "00002" "{PMID:B H I Ruszymah et al. (2005):16379178}" "" "" "Malaysia" "Malay" "" "F" "00000275" "" "" "" "1" "" "00002" "{PMID:B H I Ruszymah et al. (2005):16379178}" "" "" "Malaysia" "Chinese" "" "F" "00000276" "" "" "" "1" "" "00002" "{PMID:B H I Ruszymah et al. (2005):16379178}" "" "" "Malaysia" "Chinese" "" "M" "00000482" "" "" "" "1" "" "00002" "{PMID:Z Siti Aishah et al. (2008):18353197}" "" "" "Malaysia" "Malay" "" "" "00000573" "" "" "" "1" "" "00004" "{PMID:Yock-Ping Chow et al.(2017):28222800}" "Sister #1" "" "Malaysia" "" "" "F" "00000574" "" "" "" "1" "" "00004" "{PMID:Yock-Ping Chow et al.(2017):28222800}" "Sister #2" "" "Malaysia" "" "" "F" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00000242" "00040" "00000258" "00040" "00000273" "00040" "00000274" "00040" "00000275" "00040" "00000276" "00040" "00000482" "00040" "00000573" "00108" "00000574" "00108" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00040, 00108 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Additional}}" "{{Phenotype/Inheritance}}" "0000000151" "00040" "00000482" "00002" "" "Familial, autosomal recessive" "0000000199" "00108" "00000573" "00004" "diffused multinodular goiter, bilateral profound sensorineural hearing loss>60 dB, cochlear hypoplasia" "" "0000000200" "00108" "00000574" "00004" "profound hearing loss at 10 months of age associated with delayed speech development, has large, diffused multinodular goiter, bilateral profound sensorineural hearing loss>60 dB" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000257" "00000242" "1" "00002" "00002" "2020-12-10 14:41:33" "" "" "DHPLC;SEQ" "DNA" "0000000273" "00000258" "1" "00002" "00002" "2020-12-14 15:13:41" "" "" "PCR" "DNA" "0000000288" "00000273" "1" "00002" "00002" "2020-12-17 16:15:38" "" "" "PCR" "DNA" "0000000289" "00000274" "1" "00002" "00002" "2020-12-17 16:28:38" "" "" "PCR" "DNA" "0000000290" "00000275" "1" "00002" "00002" "2020-12-20 10:49:23" "" "" "PCR" "DNA" "0000000291" "00000276" "1" "00002" "00002" "2020-12-20 11:00:33" "" "" "PCR" "DNA" "0000000528" "00000482" "1" "00002" "00002" "2021-03-07 10:55:51" "" "" "DHPLC;PCR;SEQ" "DNA" "0000000626" "00000573" "1" "00004" "00004" "2021-04-07 11:24:55" "" "" "PCR;PFGE;SEQ" "DNA" "0000000632" "00000574" "1" "00004" "00004" "2021-04-07 11:47:48" "" "" "PCR;PFGE;SEQ" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000000257" "GJB2" "0000000273" "GJB2" "0000000288" "GJB2" "0000000289" "GJB2" "0000000290" "GJB2" "0000000291" "GJB2" "0000000528" "GJB2" "0000000626" "GJB2" "0000000632" "GJB2" ## 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 = 28 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/dbSNP}}" "0000001218" "0" "00" "13" "20189571" "20189571" "subst" "0" "00002" "GJB2_000003" "g.20189571C>T" "9/32" "{PMID:Siti Aishah Zainal et al. (2012):22613756}, {dbSNP:rs111033222}, {ClinVar:44724}" "" "" "rs111033222" "0000001219" "0" "90" "13" "20189511" "20189511" "subst" "0" "00002" "GJB2_000002" "g.20189511C>T" "2/32" "{PMID:Siti Aishah Zainal et al. (2012):22613756}, {dbSNP:rs104894396}, {OMIM:121011:0003}, {ClinVar:17002}" "" "" "rs104894396" "0000001220" "3" "90" "13" "20189511" "20189511" "subst" "0" "00002" "GJB2_000002" "g.20189511C>T" "1/32" "{PMID:Siti Aishah Zainal et al. (2012):22613756}, {dbSNP:rs104894396}, {OMIM:121011:0003}, {ClinVar:17002}" "" "" "rs104894396" "0000001221" "1" "10" "13" "20189503" "20189503" "subst" "0" "00002" "GJB2_000004" "g.20189503C>T" "8/32" "{PMID:Siti Aishah Zainal et al. (2012):22613756}, {dbSNP:rs2274084}, {ClinVar:36279}" "" "" "rs2274084" "0000001222" "2" "10" "13" "20189241" "20189241" "subst" "0" "00002" "GJB2_000005" "g.20189241T>C" "6/32" "{PMID:Siti Aishah Zainal et al. (2012):22613756}, {dbSNP:rs2274083}, {ClinVar:44739}" "" "" "rs2274083" "0000001223" "2" "00" "13" "20189214" "20189214" "subst" "0" "00002" "GJB2_000006" "g.20189214G>T" "1/32" "{PMID:Siti Aishah Zainal et al. (2012):22613756}, {dbSNP:rs111033188}, {ClinVar: 44743}" "" "" "rs111033188" "0000001224" "2" "90" "13" "20189202" "20189202" "subst" "0" "00002" "GJB2_000007" "g.20189202C>T" "2/32" "{PMID:Siti Aishah Zainal et al. (2012):22613756}, {dbSNP:rs111033196}, {ClinVar:44745}" "" "" "rs111033196" "0000001225" "3" "90" "13" "20189487" "20189487" "subst" "0" "00002" "GJB2_000008" "g.20189487C>T" "1/32" "{PMID:Siti Aishah Zainal et al. (2012):22613756}, {dbSNP:rs111033190}, {ClinVar: 44766}" "" "" "rs111033190" "0000001226" "0" "50" "13" "20189482" "20189482" "subst" "0" "00002" "GJB2_000009" "g.20189482T>A" "1/32" "{PMID:Siti Aishah Zainal et al. (2012):22613756}, {dbSNP:rs564084861}, {ClinVar: 804719}" "" "" "rs564084861" "0000001227" "1" "90" "13" "20189473" "20189473" "subst" "0" "00002" "GJB2_000001" "g.20189473C>T" "6/32" "{PMID:Siti Aishah Zainal et al. (2012):22613756}, {dbSNP:rs72474224}, {OMIM:121011:0023}, {ClinVar:17023}" "" "" "rs72474224" "0000001228" "3" "90" "13" "20189473" "20189473" "subst" "0" "00002" "GJB2_000001" "g.20189473C>T" "2/32" "{PMID:Siti Aishah Zainal et al. (2012):22613756}, {dbSNP:rs72474224}, {OMIM:121011:0023}, {ClinVar:17023}" "" "" "rs72474224" "0000001229" "0" "90" "13" "20189323" "20189325" "del" "0" "00002" "GJB2_000010" "g.20189323_20189325del" "1/32" "{PMID:Siti Aishah Zainal et al. (2012):22613756}" "" "" "" "0000001230" "1" "90" "13" "20189241" "20189241" "subst" "0" "00002" "GJB2_000005" "g.20189241T>C" "1/32" "{PMID:Siti Aishah Zainal et al. (2012):22613756}, {dbSNP:rs2274083}, {ClinVar:44739}" "" "" "rs2274083" "0000001274" "0" "90" "13" "20189473" "20189473" "subst" "0" "00002" "GJB2_000001" "g.20189473C>T" "3/5" "{PMID:A Asma et al. (2011):22106692}, {dbSNP:rs72474224}, {OMIM:121011:0023}, {ClinVar:17023}" "V37I" "" "rs72474224" "0000001275" "0" "90" "13" "20189511" "20189511" "subst" "0" "00002" "GJB2_000002" "g.20189511C>T" "1/5" "{PMID:A Asma et al. (2011):22106692}, {dbSNP:rs104894396}, {OMIM:121011:0003}, {ClinVar:17002}" "W24X" "" "rs104894396" "0000001343" "0" "90" "13" "20189473" "20189473" "subst" "0" "00002" "GJB2_000001" "g.20189473C>T" "4/6" "{PMID:B H I Ruszymah et al. (2005):16379178}, {dbSNP:rs72474224}, {OMIM:121011:0023}, {ClinVar:17023}" "V37I" "" "rs72474224" "0000001344" "1" "90" "13" "20189503" "20189503" "subst" "0" "00002" "GJB2_000004" "g.20189503C>T" "2/6" "{PMID:B H I Ruszymah et al. (2005):16379178}, {dbSNP:rs2274084}, {ClinVar:36279}" "V27I" "" "rs2274084" "0000001345" "2" "10" "13" "20189241" "20189241" "subst" "0" "00002" "GJB2_000005" "g.20189241T>C" "2/6" "{PMID:B H I Ruszymah et al. (2005):16379178}, {dbSNP:rs2274083}, {ClinVar:44739}" "E114G" "" "rs2274083" "0000001346" "0" "90" "13" "20189473" "20189473" "subst" "0" "00002" "GJB2_000001" "g.20189473C>T" "4/5" "{PMID:B H I Ruszymah et al. (2005):16379178}, {dbSNP:rs72474224}, {OMIM:121011:0023}, {ClinVar:17023}" "V37I" "" "rs72474224" "0000001347" "1" "10" "13" "20189503" "20189503" "subst" "0" "00002" "GJB2_000004" "g.20189503C>T" "1/2" "{PMID:B H I Ruszymah et al. (2005):16379178}, {dbSNP:rs2274084}, {ClinVar:36279}" "V27I" "" "rs2274084" "0000001348" "2" "10" "13" "20189241" "20189241" "subst" "0" "00002" "GJB2_000005" "g.20189241T>C" "1/2" "{PMID:B H I Ruszymah et al. (2005):16379178}, {dbSNP:rs2274083}, {ClinVar:44739}" "E114G" "" "rs2274083" "0000001349" "2" "10" "13" "20189241" "20189241" "subst" "0" "00002" "GJB2_000005" "g.20189241T>C" "1/2" "{PMID:B H I Ruszymah et al. (2005):16379178}, {dbSNP:rs2274083}, {ClinVar:44739}" "E114G" "" "rs2274083" "0000001350" "1" "10" "13" "20189503" "20189503" "subst" "0" "00002" "GJB2_000004" "g.20189503C>T" "1/2" "{PMID:B H I Ruszymah et al. (2005):16379178}, {dbSNP:rs2274084}, {ClinVar:36279}" "V27I" "" "rs2274084" "0000002259" "0" "90" "13" "20189511" "20189511" "subst" "0" "00002" "GJB2_000002" "g.20189511C>T" "8/33" "{PMID:Z Siti Aishah et al. (2008):18353197}, {dbSNP:rs104894396}, {OMIM:121011:0003}, {ClinVar:17002}" "" "" "rs104894396" "0000002260" "0" "90" "13" "20189473" "20189473" "subst" "0" "00002" "GJB2_000001" "g.20189473C>T" "4/33" "{PMID:Z Siti Aishah et al. (2008):18353197}, {dbSNP:rs72474224}, {OMIM:121011:0023}, {ClinVar:17023}" "" "" "rs72474224" "0000002262" "0" "90" "13" "20189571" "20189571" "subst" "0" "00002" "GJB2_000003" "g.20189571C>T" "2/33" "{PMID:Z Siti Aishah et al. (2008):18353197}, {dbSNP:rs111033222}, {ClinVar:44724}" "" "" "rs111033222" "0000002566" "0" "90" "13" "20189214" "20189214" "subst" "0" "00004" "GJB2_000006" "g.20189214G>T" "" "{PMID:Yock-Ping Chow et al.(2017):28222800}" "" "" "rs111033188" "0000002572" "0" "90" "13" "20189214" "20189214" "subst" "0" "00004" "GJB2_000006" "g.20189214G>T" "" "{PMID:Yock-Ping Chow et al.(2017):28222800}" "" "" "rs111033188" ## 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 GJB2 ## Count = 28 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Published_as}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/VariantOnTranscript}}" "0000001218" "00000062" "00" "11" "0" "11" "0" "c.11G>A" "" "p.(Gly4Asp)" "r.(?)" "" "" "{ClinVar:44724}" "0000001219" "00000062" "90" "71" "0" "71" "0" "c.71G>A" "" "p.(Trp24*)" "r.(?)" "" "" "{ClinVar:17002}" "0000001220" "00000062" "90" "71" "0" "71" "0" "c.71G>A" "" "p.(Trp24*)" "r.(?)" "" "" "{ClinVar:17002}" "0000001221" "00000062" "10" "79" "0" "79" "0" "c.79G>A" "" "p.(Val27Ile)" "r.(?)" "" "" "{ClinVar:36279}" "0000001222" "00000062" "10" "341" "0" "341" "0" "c.341A>G" "" "p.(Glu114Gly)" "r.(?)" "" "" "{ClinVar:44739}" "0000001223" "00000062" "00" "368" "0" "368" "0" "c.368C>A" "" "p.(Thr123Asn)" "r.(?)" "" "" "{ClinVar: 44743}" "0000001224" "00000062" "90" "380" "0" "380" "0" "c.380G>A" "" "p.(Arg127His)" "r.(?)" "" "" "{ClinVar:44745}" "0000001225" "00000062" "90" "95" "0" "95" "0" "c.95G>A" "" "p.(Arg32His)" "r.(?)" "" "" "{ClinVar: 44766}" "0000001226" "00000062" "50" "100" "0" "100" "0" "c.100A>T" "" "p.(Met34Leu)" "r.(?)" "" "" "{ClinVar: 804719}" "0000001227" "00000062" "90" "109" "0" "109" "0" "c.109G>A" "" "p.(Val37Ile)" "r.(?)" "" "" "{ClinVar:17023}" "0000001228" "00000062" "90" "109" "0" "109" "0" "c.109G>A" "" "p.(Val37Ile)" "r.(?)" "" "" "{ClinVar:17023}" "0000001229" "00000062" "90" "257" "0" "259" "0" "c.257_259delCGC" "" "p.(Pro87del)" "r.(?)" "" "" "" "0000001230" "00000062" "90" "341" "0" "341" "0" "c.341A>G" "" "p.(Glu114Gly)" "r.(?)" "" "" "{ClinVar:44739}" "0000001274" "00000062" "90" "109" "0" "109" "0" "c.109G>A" "" "p.(Val37Ile)" "r.(?)" "" "" "{ClinVar:17023}" "0000001275" "00000062" "90" "71" "0" "71" "0" "c.71G>A" "" "p.(Trp24*)" "r.(?)" "" "" "{ClinVar:17002}" "0000001343" "00000062" "90" "109" "0" "109" "0" "c.109G>A" "" "p.(Val37Ile)" "r.(?)" "" "" "{ClinVar:17023}" "0000001344" "00000062" "90" "79" "0" "79" "0" "c.79G>A" "" "p.(Val27Ile)" "r.(?)" "" "" "{ClinVar:36279}" "0000001345" "00000062" "10" "341" "0" "341" "0" "c.341A>G" "" "p.(Glu114Gly)" "r.(?)" "" "" "{ClinVar:44739}" "0000001346" "00000062" "90" "109" "0" "109" "0" "c.109G>A" "" "p.(Val37Ile)" "r.(?)" "" "" "{ClinVar:17023}" "0000001347" "00000062" "10" "79" "0" "79" "0" "c.79G>A" "" "p.(Val27Ile)" "r.(?)" "" "" "{ClinVar:36279}" "0000001348" "00000062" "10" "341" "0" "341" "0" "c.341A>G" "" "p.(Glu114Gly)" "r.(?)" "" "" "{ClinVar:44739}" "0000001349" "00000062" "10" "341" "0" "341" "0" "c.341A>G" "" "p.(Glu114Gly)" "r.(?)" "" "" "{ClinVar:44739}" "0000001350" "00000062" "10" "79" "0" "79" "0" "c.79G>A" "" "p.(Val27Ile)" "r.(?)" "" "" "{ClinVar:36279}" "0000002259" "00000062" "90" "71" "0" "71" "0" "c.71G>A" "" "p.(Trp24*)" "r.(?)" "" "" "Pathogenic​" "0000002260" "00000062" "90" "109" "0" "109" "0" "c.109G>A" "" "p.(Val37Ile)" "r.(?)" "" "missense" "Pathogenic​" "0000002262" "00000062" "90" "11" "0" "11" "0" "c.11G>A" "" "p.(Gly4Asp)" "r.(?)" "" "missense" "Likely benign / benign" "0000002566" "00000062" "90" "368" "0" "368" "0" "c.368C>A" "" "p.(Thr123Asn)" "r.(?)" "" "" "Benign/Likely benign" "0000002572" "00000062" "90" "368" "0" "368" "0" "c.368C>A" "" "p.(Thr123Asn)" "r.(?)" "" "" "Benign/Likely benign" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 28 "{{screeningid}}" "{{variantid}}" "0000000257" "0000001218" "0000000257" "0000001219" "0000000257" "0000001220" "0000000257" "0000001221" "0000000257" "0000001222" "0000000257" "0000001223" "0000000257" "0000001224" "0000000257" "0000001225" "0000000257" "0000001226" "0000000257" "0000001227" "0000000257" "0000001228" "0000000257" "0000001229" "0000000257" "0000001230" "0000000273" "0000001274" "0000000273" "0000001275" "0000000288" "0000001343" "0000000288" "0000001344" "0000000288" "0000001345" "0000000289" "0000001346" "0000000290" "0000001347" "0000000290" "0000001348" "0000000291" "0000001349" "0000000291" "0000001350" "0000000528" "0000002259" "0000000528" "0000002260" "0000000528" "0000002262" "0000000626" "0000002566" "0000000632" "0000002572"