### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GJC2) # 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}}" "GJC2" "gap junction protein, gamma 2, 47kDa" "1" "q41-q42" "unknown" "NG_011838.1" "UD_132118479209" "" "https://www.LOVD.nl/GJC2" "" "1" "17494" "57165" "608803" "1" "1" "1" "1" " This database is one of the \"Vascular anomalies and lymphedema\" gene variant databases, curated by the Laboratory of Human Molecular Genetics, de Duve Institute, Brussels (Belgium).\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/GJC2_codingDNA.html" "1" "" "
This database is one of the \"Vascular anomalies and lymphedema\" gene variant databases." "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2018-05-11 17:36:53" "00000" "2025-11-01 13:22:20" ## 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}}" "00008544" "GJC2" "gap junction protein, gamma 2, 47kDa" "001" "NM_020435.3" "" "NP_065168.2" "" "" "" "-313" "2068" "1320" "228337415" "228347527" "" "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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02794" "HLD2;PMLD1" "leukodystrophy, hypomyelinating, type 2 (HLD-2, Pelizaeus-Merzbacher like disease 1 (PMLD-1))" "AR" "608804" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03283" "SPG44" "paraplegia, spastic, type 44, autosomal recessive (SPG-44)" "AR" "613206" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03343" "LMPHM3" "lymphatic malformation 3" "AD" "613480" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "GJC2" "00139" "GJC2" "02794" "GJC2" "03283" "GJC2" "03343" ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{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}}" "00055368" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055369" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055370" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055371" "" "" "" "2" "" "00125" "" "2 affecteds sibs" "" "yes" "Pakistan" "" "0" "" "" "" "" "00055372" "" "" "" "2" "" "00125" "" "" "" "yes" "Pakistan" "" "0" "" "" "" "" "00055373" "" "" "" "1" "" "00125" "" "" "" "" "Algeria" "" "0" "" "" "" "" "00055374" "" "" "" "1" "" "00125" "" "" "" "" "Algeria" "" "0" "" "" "" "" "00055375" "" "" "" "1" "" "00125" "" "" "" "" "Italy" "" "0" "" "" "" "" "00055391" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00055394" "" "" "" "1" "" "00125" "" "" "" "" "" "" "0" "" "" "" "" "00231414" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00307947" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:28940097}" "familial" "F" "" "" "" "0" "" "" "" "15DG2206" "00358881" "" "" "" "1" "" "03566" "" "" "" "?" "" "" "" "" "" "" "GJC2" "00374328" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5966" "00374329" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2754" "00455783" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "F" "" "" "" "0" "" "" "" "Pat23" "00455854" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "M" "" "" "" "0" "" "" "" "Pat94" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 17 "{{individualid}}" "{{diseaseid}}" "00055368" "02794" "00055369" "02794" "00055370" "02794" "00055371" "02794" "00055372" "02794" "00055373" "02794" "00055374" "02794" "00055375" "03283" "00055391" "03343" "00055394" "03343" "00231414" "03283" "00307947" "00139" "00358881" "00198" "00374328" "00198" "00374329" "00198" "00455783" "00198" "00455854" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 02794, 03283, 03343 ## Count = 16 "{{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}}" "0000042023" "02794" "00055368" "00125" "Familial" "" "Pelizaeus-Merzbacher like disease" "" "" "" "" "" "" "" "" "" "" "" "0000042024" "02794" "00055369" "00125" "Familial" "" "Pelizaeus-Merzbacher like disease" "" "" "" "" "" "" "" "" "" "" "" "0000042025" "02794" "00055370" "00125" "Familial" "" "Pelizaeus-Merzbacher like disease" "" "" "" "" "" "" "" "" "" "" "" "0000042026" "02794" "00055371" "00125" "Isolated (sporadic)" "" "Pelizaeus-Merzbacher like disease" "" "" "" "" "" "" "" "" "" "" "" "0000042027" "02794" "00055372" "00125" "Isolated (sporadic)" "" "Pelizaeus-Merzbacher like disease" "" "" "" "" "" "" "" "" "" "" "" "0000042028" "02794" "00055373" "00125" "Unknown" "" "Pelizaeus-Merzbacher like disease" "" "" "" "" "" "" "" "" "" "" "" "0000042029" "02794" "00055374" "00125" "Unknown" "" "Pelizaeus-Merzbacher like disease" "" "" "" "" "" "" "" "" "" "" "" "0000042030" "03283" "00055375" "00125" "Unknown" "" "spastic paraplegia" "" "" "" "" "" "" "" "" "" "" "" "0000042046" "03343" "00055391" "00125" "Unknown" "" "lymphedema" "" "" "" "" "" "" "" "" "" "" "" "0000042049" "03343" "00055394" "00125" "Unknown" "" "lymphedema" "" "" "" "" "" "" "" "" "" "" "" "0000233370" "00139" "00307947" "00006" "Familial, autosomal recessive" "17y" "see paper; ..., Developmental regression, Seizures, Ulnar deviation of the hand, Hyperreflexia, Strabismus, Leukodystrophy" "" "" "" "" "" "" "" "" "" "intellectual diability" "" "0000254140" "00198" "00358881" "03566" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000269538" "00198" "00374328" "00006" "Familial, autosomal recessive" "" "Developmental delay with regression, ataxic gait, dysarthria, nystagmus, hypotonia and leukodystrophy." "" "" "" "" "" "" "" "" "" "leukodystrophy" "" "0000269539" "00198" "00374329" "00006" "Familial, autosomal recessive" "" "Spasticity, global developmental delay, regression of milestones, nystagmus and leukodystrophy" "" "" "" "" "" "" "" "" "" "leukodystrophy" "" "0000344316" "00198" "00455783" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD2" "neurogenetic diseases" "" "0000344387" "00198" "00455854" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HLD2" "neurogenetic diseases" "" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000055321" "00055368" "1" "00125" "00125" "2011-10-23 16:24:55" "" "" "SEQ" "DNA" "" "" "0000055322" "00055369" "1" "00125" "00125" "2011-10-23 16:24:55" "" "" "SEQ" "DNA" "" "" "0000055323" "00055370" "1" "00125" "00125" "2011-10-23 16:24:55" "" "" "SEQ" "DNA" "" "" "0000055324" "00055371" "1" "00125" "00125" "2011-10-23 16:24:55" "" "" "SEQ" "DNA" "" "" "0000055325" "00055372" "1" "00125" "00125" "2011-10-23 16:24:55" "" "" "SEQ" "DNA" "" "" "0000055326" "00055373" "1" "00125" "00125" "2011-10-23 16:24:55" "" "" "SEQ" "DNA" "" "" "0000055327" "00055374" "1" "00125" "00125" "2011-10-23 16:24:55" "" "" "SEQ" "DNA" "" "" "0000055328" "00055375" "1" "00125" "00125" "2011-10-23 16:24:55" "" "" "SEQ" "DNA" "" "" "0000055344" "00055391" "1" "00125" "00125" "2011-10-23 16:24:55" "" "" "SEQ" "DNA" "" "" "0000055347" "00055394" "1" "00125" "00125" "2011-10-23 16:24:55" "" "" "SEQ" "DNA" "" "" "0000232513" "00231414" "1" "01741" "01741" "2019-05-03 09:50:46" "" "" "SEQ-NG" "DNA" "" "" "0000309091" "00307947" "1" "00006" "00006" "2020-08-23 13:31:08" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000360113" "00358881" "1" "03566" "03566" "2021-03-17 07:15:08" "00006" "2023-12-01 12:39:32" "SEQ" "DNA" "" "" "0000375522" "00374328" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375523" "00374329" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000457399" "00455783" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000457470" "00455854" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000055321" "GJC2" "0000055322" "GJC2" "0000055323" "GJC2" "0000055324" "GJC2" "0000055325" "GJC2" "0000055326" "GJC2" "0000055327" "GJC2" "0000055328" "GJC2" "0000055344" "GJC2" "0000055347" "GJC2" "0000232513" "GJC2" "0000309091" "GJC2" "0000375522" "GJC2" "0000375523" "GJC2" ## 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 = 110 "{{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}}" "0000085342" "1" "90" "1" "228346316" "228346316" "subst" "4.10668E-6" "00125" "GJC2_000005" "g.228346316T>C" "" "{PMID:Uhlenberg 2004:15192806}, {OMIM608803:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.228158615T>C" "" "pathogenic" "" "0000085343" "1" "90" "1" "228345727" "228345727" "subst" "4.19358E-6" "00125" "GJC2_000001" "g.228345727C>T" "" "{PMID:Uhlenberg 2004:15192806}, {OMIM608803:0002}" "" "" "" "Germline" "yes" "" "0" "" "" "g.228158026C>T" "" "pathogenic" "" "0000085344" "1" "90" "1" "228346177" "228346177" "subst" "0" "00125" "GJC2_000003" "g.228346177C>T" "" "{PMID:Uhlenberg 2004:15192806}, {OMIM608803:0004}" "" "" "" "Germline" "yes" "" "0" "" "" "g.228158476C>T" "" "pathogenic" "" "0000085345" "1" "90" "1" "228346373" "228346406" "del" "0" "00125" "GJC2_000006" "g.228346373_228346406del" "" "{PMID:Wolf 2007:16969684}, {OMIM608803:0006}" "" "" "" "Germline" "yes" "" "0" "" "" "g.228158672_228158705del" "" "pathogenic" "" "0000085346" "1" "90" "1" "228346373" "228346406" "del" "0" "00125" "GJC2_000006" "g.228346373_228346406del" "" "{PMID:Salviati 2007:17031678}, {OMIM608803:0006}" "" "" "" "Germline" "yes" "" "0" "" "" "g.228158672_228158705del" "" "pathogenic" "" "0000085347" "1" "90" "1" "228346154" "228346155" "ins" "0" "00125" "GJC2_000015" "g.228346154_228346155insG" "" "{PMID:Henneke 2008:18094336}, {OMIM608803:0007}" "" "" "" "Unknown" "?" "" "0" "" "" "g.228158453_228158454insG" "" "pathogenic" "" "0000085348" "1" "90" "1" "228346154" "228346155" "ins" "0" "00125" "GJC2_000015" "g.228346154_228346155insG" "" "{PMID:Henneke 2008:18094336}, {OMIM608803:0007}" "" "" "" "Unknown" "?" "" "0" "" "" "g.228158453_228158454insG" "" "pathogenic" "" "0000085349" "1" "90" "1" "228345567" "228345567" "subst" "0" "00125" "GJC2_000020" "g.228345567C>G" "" "{PMID:Orthmann-Murphy 2009:19056803}, {OMIM608803:0008}" "" "99C>G (I33M)" "" "Unknown" "?" "" "0" "" "" "g.228157866C>G" "" "pathogenic" "" "0000085365" "1" "90" "1" "228345602" "228345602" "subst" "0" "00125" "GJC2_000024" "g.228345602C>T" "" "{PMID:Ferrell 2010:20537300}, {OMIM608803:0009}" "" "" "" "Unknown" "?" "" "0" "" "" "g.228157901C>T" "" "pathogenic" "" "0000085368" "1" "90" "1" "228346237" "228346237" "subst" "0" "00125" "GJC2_000027" "g.228346237C>T" "" "{PMID:Ferrell 2010:20537300}, {OMIM608803:0010}" "" "" "" "Unknown" "?" "" "0" "" "" "g.228158536C>T" "" "pathogenic" "" "0000086018" "2" "90" "1" "228346316" "228346316" "subst" "4.10668E-6" "00125" "GJC2_000005" "g.228346316T>C" "" "{PMID:Uhlenberg 2004:15192806}, {OMIM608803:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.228158615T>C" "" "pathogenic" "" "0000086019" "2" "90" "1" "228346448" "228346448" "del" "0" "00125" "GJC2_000002" "g.228346448del" "" "{PMID:Uhlenberg 2004:15192806}, {OMIM608803:0003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.228158747del" "" "pathogenic" "" "0000086020" "2" "90" "1" "228346273" "228346273" "subst" "0" "00125" "GJC2_000004" "g.228346273T>G" "" "{PMID:Uhlenberg 2004:15192806}, {OMIM608803:0005}" "" "" "" "Germline" "yes" "" "0" "" "" "g.228158572T>G" "" "pathogenic" "" "0000086021" "2" "90" "1" "228346373" "228346406" "del" "0" "00125" "GJC2_000006" "g.228346373_228346406del" "" "{PMID:Wolf 2007:16969684}, {OMIM608803:0006}" "" "" "" "Germline" "yes" "" "0" "" "" "g.228158672_228158705del" "" "pathogenic" "" "0000086022" "2" "90" "1" "228346373" "228346406" "del" "0" "00125" "GJC2_000006" "g.228346373_228346406del" "" "{PMID:Salviati 2007:17031678}, {OMIM608803:0006}" "" "" "" "Germline" "yes" "" "0" "" "" "g.228158672_228158705del" "" "pathogenic" "" "0000086023" "2" "90" "1" "228346154" "228346155" "ins" "0" "00125" "GJC2_000015" "g.228346154_228346155insG" "" "{PMID:Henneke 2008:18094336}, {OMIM608803:0007}" "" "" "" "Unknown" "?" "" "0" "" "" "g.228158453_228158454insG" "" "pathogenic" "" "0000086024" "2" "90" "1" "228346154" "228346155" "ins" "0" "00125" "GJC2_000015" "g.228346154_228346155insG" "" "{PMID:Henneke 2008:18094336}, {OMIM608803:0007}" "" "" "" "Unknown" "?" "" "0" "" "" "g.228158453_228158454insG" "" "pathogenic" "" "0000086025" "2" "90" "1" "228345567" "228345567" "subst" "0" "00125" "GJC2_000020" "g.228345567C>G" "" "{PMID:Orthmann-Murphy 2009:19056803}, {OMIM608803:0008}" "" "99C>G (I33M)" "" "Unknown" "?" "" "0" "" "" "g.228157866C>G" "" "pathogenic" "" "0000277304" "0" "10" "1" "228345446" "228345446" "subst" "0" "02330" "GJC2_000029" "g.228345446G>C" "" "" "" "GJC2(NM_020435.4):c.-14G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228157745G>C" "" "benign" "" "0000277305" "0" "10" "1" "228346798" "228346798" "subst" "0.00137579" "02330" "GJC2_000038" "g.228346798T>A" "" "" "" "GJC2(NM_020435.4):c.*19T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228159097T>A" "" "benign" "" "0000277306" "0" "90" "1" "228345602" "228345602" "subst" "0" "02330" "GJC2_000024" "g.228345602C>T" "" "" "" "GJC2(NM_020435.4):c.143C>T (p.S48L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228157901C>T" "" "pathogenic" "" "0000277307" "0" "10" "1" "228346053" "228346053" "subst" "0.0294986" "02330" "GJC2_000033" "g.228346053C>T" "" "" "" "GJC2(NM_020435.4):c.594C>T (p.H198=, p.(His198=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228158352C>T" "" "benign" "" "0000277308" "0" "50" "1" "228346300" "228346300" "subst" "4.0836E-6" "02330" "GJC2_000034" "g.228346300C>T" "" "" "" "GJC2(NM_020435.4):c.841C>T (p.L281F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228158599C>T" "" "VUS" "" "0000281044" "0" "30" "1" "228346015" "228346015" "subst" "0.00069367" "02325" "GJC2_000031" "g.228346015G>T" "" "" "" "GJC2(NM_020435.3):c.556G>T (p.G186C, p.(Gly186Cys)), GJC2(NM_020435.4):c.556G>T (p.G186C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228158314G>T" "" "likely benign" "" "0000284642" "0" "30" "1" "228346587" "228346587" "subst" "0" "02326" "GJC2_000035" "g.228346587C>A" "" "" "" "GJC2(NM_020435.4):c.1128C>A (p.G376=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228158886C>A" "" "likely benign" "" "0000288369" "0" "30" "1" "228346693" "228346693" "subst" "0.000771227" "01943" "GJC2_000037" "g.228346693C>T" "" "" "" "GJC2(NM_020435.3):c.1234C>T (p.H412Y, p.(His412Tyr)), GJC2(NM_020435.4):c.1234C>T (p.H412Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228158992C>T" "" "likely benign" "" "0000288370" "0" "30" "1" "228345606" "228345606" "subst" "0.0018022" "01943" "GJC2_000030" "g.228345606C>T" "" "" "" "GJC2(NM_020435.3):c.147C>T (p.D49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228157905C>T" "" "likely benign" "" "0000288371" "0" "30" "1" "228346034" "228346034" "subst" "0.00119883" "01943" "GJC2_000032" "g.228346034C>G" "" "" "" "GJC2(NM_020435.3):c.575C>G (p.P192R, p.(Pro192Arg)), GJC2(NM_020435.4):c.575C>G (p.P192R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228158333C>G" "" "likely benign" "" "0000321323" "0" "30" "1" "228336425" "228336425" "subst" "0.00073207" "01804" "GUK1_000003" "g.228336425G>C" "" "" "" "GUK1(NM_000858.5):c.*27G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228148724G>C" "" "likely benign" "" "0000321327" "0" "50" "1" "228346406" "228346406" "subst" "0.000985279" "01804" "GJC2_000028" "g.228346406C>T" "" "" "" "GJC2(NM_020435.3):c.947C>T (p.(Pro316Leu)), GJC2(NM_020435.4):c.947C>T (p.P316L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228158705C>T" "" "VUS" "" "0000321328" "0" "50" "1" "228346609" "228346609" "subst" "0.000207512" "01804" "GJC2_000036" "g.228346609C>T" "" "" "" "GJC2(NM_020435.3):c.1150C>T (p.P384S, p.(Pro384Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228158908C>T" "" "VUS" "" "0000342373" "0" "90" "1" "228346177" "228346177" "subst" "0" "02327" "GJC2_000003" "g.228346177C>T" "" "" "" "GJC2(NM_020435.3):c.718C>T (p.R240*, p.(Arg240*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.228158476C>T" "" "pathogenic" "" "0000474929" "0" "50" "1" "228346082" "228346082" "subst" "0" "01741" "GJC2_000041" "g.228346082G>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.228158381G>T" "" "VUS" "" "0000474930" "0" "50" "1" "228337584" "228337586" "del" "0" "01741" "GJC2_000040" "g.228337584_228337586del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.228149883_228149885del" "" "VUS" "" "0000505754" "0" "10" "1" "228345567" "228345567" "subst" "0.00286672" "02330" "GJC2_000042" "g.228345567C>T" "" "" "" "GJC2(NM_020435.4):c.108C>T (p.I36=, p.(Ile36=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228157866C>T" "" "benign" "" "0000505755" "0" "50" "1" "228345597" "228345597" "subst" "0" "01943" "GJC2_000021" "g.228345597C>G" "" "" "" "GJC2(NM_020435.3):c.138C>G (p.I46M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228157896C>G" "" "VUS" "" "0000505756" "0" "30" "1" "228345904" "228345904" "subst" "0.000473824" "02330" "GJC2_000012" "g.228345904G>A" "" "" "" "GJC2(NM_020435.4):c.445G>A (p.G149S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228158203G>A" "" "likely benign" "" "0000505757" "0" "30" "1" "228345911" "228345911" "subst" "0" "01943" "GJC2_000043" "g.228345911G>T" "" "" "" "GJC2(NM_020435.3):c.452G>T (p.G151V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228158210G>T" "" "likely benign" "" "0000505758" "0" "10" "1" "228345931" "228345933" "del" "0" "02330" "GJC2_000044" "g.228345931_228345933del" "" "" "" "GJC2(NM_020435.4):c.472_474delGAG (p.E158del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228158230_228158232del" "" "benign" "" "0000505759" "0" "10" "1" "228345987" "228345987" "subst" "0.00175736" "01943" "GJC2_000045" "g.228345987G>A" "" "" "" "GJC2(NM_020435.3):c.528G>A (p.E176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228158286G>A" "" "benign" "" "0000505760" "0" "50" "1" "228346015" "228346015" "subst" "0.00069367" "01943" "GJC2_000031" "g.228346015G>T" "" "" "" "GJC2(NM_020435.3):c.556G>T (p.G186C, p.(Gly186Cys)), GJC2(NM_020435.4):c.556G>T (p.G186C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228158314G>T" "" "VUS" "" "0000505761" "0" "30" "1" "228346034" "228346034" "subst" "0.00119883" "01804" "GJC2_000032" "g.228346034C>G" "" "" "" "GJC2(NM_020435.3):c.575C>G (p.P192R, p.(Pro192Arg)), GJC2(NM_020435.4):c.575C>G (p.P192R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228158333C>G" "" "likely benign" "" "0000505762" "0" "30" "1" "228346034" "228346034" "subst" "0.00119883" "02327" "GJC2_000032" "g.228346034C>G" "" "" "" "GJC2(NM_020435.3):c.575C>G (p.P192R, p.(Pro192Arg)), GJC2(NM_020435.4):c.575C>G (p.P192R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228158333C>G" "" "likely benign" "" "0000505763" "0" "50" "1" "228346066" "228346066" "subst" "0" "01943" "GJC2_000046" "g.228346066C>T" "" "" "" "GJC2(NM_020435.3):c.607C>T (p.R203C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228158365C>T" "" "VUS" "" "0000505764" "0" "30" "1" "228346093" "228346093" "subst" "0" "02325" "GJC2_000047" "g.228346093G>A" "" "" "" "GJC2(NM_020435.4):c.634G>A (p.V212M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228158392G>A" "" "likely benign" "" "0000505765" "0" "50" "1" "228346156" "228346156" "subst" "0" "01943" "GJC2_000048" "g.228346156C>G" "" "" "" "GJC2(NM_020435.3):c.697C>G (p.L233V), GJC2(NM_020435.4):c.697C>G (p.L233V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228158455C>G" "" "VUS" "" "0000505766" "0" "90" "1" "228346177" "228346177" "subst" "0" "01943" "GJC2_000003" "g.228346177C>T" "" "" "" "GJC2(NM_020435.3):c.718C>T (p.R240*, p.(Arg240*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228158476C>T" "" "pathogenic" "" "0000505767" "0" "50" "1" "228346361" "228346361" "subst" "1.1798E-5" "01943" "GJC2_000049" "g.228346361G>C" "" "" "" "GJC2(NM_020435.3):c.902G>C (p.R301P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228158660G>C" "" "VUS" "" "0000505768" "0" "30" "1" "228346406" "228346406" "subst" "0.000985279" "02326" "GJC2_000028" "g.228346406C>T" "" "" "" "GJC2(NM_020435.3):c.947C>T (p.(Pro316Leu)), GJC2(NM_020435.4):c.947C>T (p.P316L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228158705C>T" "" "likely benign" "" "0000505769" "0" "10" "1" "228346425" "228346425" "subst" "0.0405769" "02330" "GJC2_000050" "g.228346425G>C" "" "" "" "GJC2(NM_020435.4):c.966G>C (p.A322=, p.(Ala322=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228158724G>C" "" "benign" "" "0000505770" "0" "30" "1" "228346449" "228346449" "subst" "0" "01943" "GJC2_000051" "g.228346449G>C" "" "" "" "GJC2(NM_020435.3):c.990G>C (p.P330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228158748G>C" "" "likely benign" "" "0000505771" "0" "30" "1" "228346486" "228346486" "subst" "0" "01804" "GJC2_000052" "g.228346486G>T" "" "" "" "GJC2(NM_020435.3):c.1027G>T (p.(Ala343Ser)), GJC2(NM_020435.4):c.1027G>T (p.A343S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228158785G>T" "" "likely benign" "" "0000505772" "0" "50" "1" "228346609" "228346609" "subst" "0.000207512" "01943" "GJC2_000036" "g.228346609C>T" "" "" "" "GJC2(NM_020435.3):c.1150C>T (p.P384S, p.(Pro384Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228158908C>T" "" "VUS" "" "0000505773" "0" "30" "1" "228346652" "228346652" "subst" "0.00149853" "02330" "GJC2_000009" "g.228346652C>T" "" "" "" "GJC2(NM_020435.3):c.1193C>T (p.T398I, p.(Thr398Ile)), GJC2(NM_020435.4):c.1193C>T (p.T398I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228158951C>T" "" "likely benign" "" "0000505774" "0" "30" "1" "228346652" "228346652" "subst" "0.00149853" "01943" "GJC2_000009" "g.228346652C>T" "" "" "" "GJC2(NM_020435.3):c.1193C>T (p.T398I, p.(Thr398Ile)), GJC2(NM_020435.4):c.1193C>T (p.T398I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228158951C>T" "" "likely benign" "" "0000505775" "0" "50" "1" "228346652" "228346652" "subst" "0.00149853" "02329" "GJC2_000009" "g.228346652C>T" "" "" "" "GJC2(NM_020435.3):c.1193C>T (p.T398I, p.(Thr398Ile)), GJC2(NM_020435.4):c.1193C>T (p.T398I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228158951C>T" "" "VUS" "" "0000605234" "0" "50" "1" "228345459" "228345463" "del" "0" "01804" "GJC2_000053" "g.228345459_228345463del" "" "" "" "GJC2(NM_020435.3):c.-1_4del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228157758_228157762del" "" "VUS" "" "0000605235" "0" "30" "1" "228345921" "228345921" "subst" "5.96113E-5" "02330" "GJC2_000055" "g.228345921G>A" "" "" "" "GJC2(NM_020435.4):c.462G>A (p.E154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228158220G>A" "" "likely benign" "" "0000605236" "0" "30" "1" "228346406" "228346406" "subst" "0.000985279" "02325" "GJC2_000028" "g.228346406C>T" "" "" "" "GJC2(NM_020435.3):c.947C>T (p.(Pro316Leu)), GJC2(NM_020435.4):c.947C>T (p.P316L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228158705C>T" "" "likely benign" "" "0000605237" "0" "30" "1" "228346652" "228346652" "subst" "0.00149853" "02326" "GJC2_000009" "g.228346652C>T" "" "" "" "GJC2(NM_020435.3):c.1193C>T (p.T398I, p.(Thr398Ile)), GJC2(NM_020435.4):c.1193C>T (p.T398I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228158951C>T" "" "likely benign" "" "0000620535" "0" "30" "1" "228345489" "228345489" "subst" "6.03034E-6" "01943" "GJC2_000054" "g.228345489G>C" "" "" "" "GJC2(NM_020435.3):c.30G>C (p.T10=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228157788G>C" "" "likely benign" "" "0000620536" "0" "30" "1" "228346486" "228346486" "subst" "0" "02326" "GJC2_000052" "g.228346486G>T" "" "" "" "GJC2(NM_020435.3):c.1027G>T (p.(Ala343Ser)), GJC2(NM_020435.4):c.1027G>T (p.A343S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228158785G>T" "" "likely benign" "" "0000620537" "0" "30" "1" "228346693" "228346693" "subst" "0.000771227" "02326" "GJC2_000037" "g.228346693C>T" "" "" "" "GJC2(NM_020435.3):c.1234C>T (p.H412Y, p.(His412Tyr)), GJC2(NM_020435.4):c.1234C>T (p.H412Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228158992C>T" "" "likely benign" "" "0000653925" "0" "30" "1" "228345859" "228345859" "subst" "0" "01943" "GJC2_000056" "g.228345859G>A" "" "" "" "GJC2(NM_020435.3):c.400G>A (p.G134S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.228158158G>A" "" "likely benign" "" "0000675683" "0" "90" "1" "228345769" "228345769" "del" "0" "01943" "GJC2_000057" "g.228345769del" "" "" "" "GJC2(NM_020435.3):c.310delC (p.R104Vfs*106)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000675684" "0" "50" "1" "228346508" "228346508" "subst" "0" "02326" "GJC2_000058" "g.228346508T>A" "" "" "" "GJC2(NM_020435.4):c.1049T>A (p.L350Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000683554" "3" "70" "1" "228346214" "228346214" "subst" "0" "00006" "GJC2_000059" "g.228346214A>G" "" "{PMID:Anazi 2017:28940097}" "" "" "ACMG PM1,PM2,PP3,PP1" "Germline" "" "" "0" "" "" "g.228158513A>G" "" "likely pathogenic (recessive)" "ACMG" "0000717237" "0" "30" "1" "228345438" "228345439" "ins" "0" "01943" "GJC2_000060" "g.228345438_228345439insCGGGG" "" "" "" "GJC2(NM_020435.3):c.-19-2_-19-1insGGGGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717238" "0" "30" "1" "228345543" "228345543" "subst" "2.57537E-5" "01943" "GJC2_000061" "g.228345543C>A" "" "" "" "GJC2(NM_020435.3):c.84C>A (p.L28=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717239" "0" "50" "1" "228345790" "228345790" "subst" "1.13074E-5" "02325" "GJC2_000062" "g.228345790C>T" "" "" "" "GJC2(NM_020435.4):c.331C>T (p.R111C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717240" "0" "30" "1" "228345861" "228345861" "subst" "0" "01943" "GJC2_000063" "g.228345861C>G" "" "" "" "GJC2(NM_020435.3):c.402C>G (p.G134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000759812" "0" "90" "1" "228345566" "228345566" "del" "0" "03566" "GJC2_000073" "g.228345566del" "" "" "" "107delT" "" "Germline" "?" "" "0" "" "" "g.228157865del" "" "pathogenic" "ACMG" "0000786873" "1" "70" "1" "228345597" "228345597" "subst" "0" "00006" "GJC2_000021" "g.228345597C>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.228157896C>G" "" "likely pathogenic" "" "0000786874" "3" "90" "1" "228345967" "228345967" "del" "0" "00006" "GJC2_000064" "g.228345967del" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.228158266del" "" "pathogenic" "" "0000787480" "2" "70" "1" "228346441" "228346441" "del" "0" "00000" "GJC2_000065" "g.228346441del" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.228158740del" "" "likely pathogenic" "" "0000799146" "0" "30" "1" "228346669" "228346669" "subst" "1.46162E-5" "01943" "GJC2_000066" "g.228346669G>A" "" "" "" "GJC2(NM_020435.3):c.1210G>A (p.G404R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799147" "0" "50" "1" "228346715" "228346715" "subst" "3.46759E-5" "02325" "GJC2_000067" "g.228346715C>T" "" "" "" "GJC2(NM_020435.4):c.1256C>T (p.P419L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857320" "0" "50" "1" "228345907" "228345907" "subst" "0" "01804" "GJC2_000068" "g.228345907C>G" "" "" "" "GJC2(NM_020435.3):c.448C>G (p.(Leu150Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857321" "0" "50" "1" "228346199" "228346199" "subst" "0" "01943" "GJC2_000069" "g.228346199G>A" "" "" "" "GJC2(NM_020435.3):c.740G>A (p.R247H), GJC2(NM_020435.4):c.740G>A (p.(Arg247His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857322" "0" "50" "1" "228346276" "228346276" "subst" "0" "01943" "GJC2_000070" "g.228346276G>C" "" "" "" "GJC2(NM_020435.3):c.817G>C (p.V273L), GJC2(NM_020435.4):c.817G>C (p.(Val273Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883187" "0" "30" "1" "228346058" "228346058" "subst" "1.90681E-5" "02326" "GJC2_000071" "g.228346058G>A" "" "" "" "GJC2(NM_020435.4):c.599G>A (p.G200E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000910953" "0" "30" "1" "228346015" "228346015" "subst" "0.00069367" "02330" "GJC2_000031" "g.228346015G>T" "" "" "" "GJC2(NM_020435.3):c.556G>T (p.G186C, p.(Gly186Cys)), GJC2(NM_020435.4):c.556G>T (p.G186C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923093" "0" "30" "1" "228346733" "228346733" "subst" "8.46525E-6" "02326" "GJC2_000072" "g.228346733A>G" "" "" "" "GJC2(NM_020435.4):c.1274A>G (p.K425R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947164" "0" "50" "1" "228346156" "228346156" "subst" "0" "02325" "GJC2_000048" "g.228346156C>G" "" "" "" "GJC2(NM_020435.3):c.697C>G (p.L233V), GJC2(NM_020435.4):c.697C>G (p.L233V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960881" "0" "30" "1" "228345567" "228345567" "subst" "0.00286672" "02326" "GJC2_000042" "g.228345567C>T" "" "" "" "GJC2(NM_020435.4):c.108C>T (p.I36=, p.(Ile36=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973734" "0" "50" "1" "228346015" "228346015" "subst" "0.00069367" "01804" "GJC2_000031" "g.228346015G>T" "" "" "" "GJC2(NM_020435.3):c.556G>T (p.G186C, p.(Gly186Cys)), GJC2(NM_020435.4):c.556G>T (p.G186C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973735" "0" "90" "1" "228346050" "228346050" "dup" "0" "01804" "GJC2_000039" "g.228346050dup" "" "" "" "GJC2(NM_020435.4):c.591dup (p.(His198Thrfs*66))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000973736" "0" "50" "1" "228346199" "228346199" "subst" "0" "01804" "GJC2_000069" "g.228346199G>A" "" "" "" "GJC2(NM_020435.3):c.740G>A (p.R247H), GJC2(NM_020435.4):c.740G>A (p.(Arg247His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973737" "0" "50" "1" "228346276" "228346276" "subst" "0" "01804" "GJC2_000070" "g.228346276G>C" "" "" "" "GJC2(NM_020435.3):c.817G>C (p.V273L), GJC2(NM_020435.4):c.817G>C (p.(Val273Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990917" "0" "50" "1" "228334636" "228334636" "subst" "2.84497E-5" "01804" "GJC2_000074" "g.228334636C>T" "" "" "" "GUK1(NM_001159390.1):c.311C>T (p.(Thr104Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990918" "0" "50" "1" "228336122" "228336122" "subst" "0" "01804" "GJC2_000075" "g.228336122C>T" "" "" "" "GUK1(NM_001159390.1):c.589C>T (p.(Gln197*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990919" "0" "30" "1" "228336430" "228336430" "subst" "0.000139649" "01804" "GJC2_000076" "g.228336430C>G" "" "" "" "GUK1(NM_001159390.1):c.*32C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990920" "0" "50" "1" "228345746" "228345746" "subst" "0" "02330" "GJC2_000077" "g.228345746G>T" "" "" "" "GJC2(NM_020435.4):c.287G>T (p.G96V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990921" "0" "30" "1" "228346034" "228346034" "subst" "0.00119883" "02330" "GJC2_000032" "g.228346034C>G" "" "" "" "GJC2(NM_020435.3):c.575C>G (p.P192R, p.(Pro192Arg)), GJC2(NM_020435.4):c.575C>G (p.P192R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990922" "0" "90" "1" "228346177" "228346177" "subst" "0" "01804" "GJC2_000003" "g.228346177C>T" "" "" "" "GJC2(NM_020435.3):c.718C>T (p.R240*, p.(Arg240*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000990923" "0" "50" "1" "228346448" "228346448" "subst" "0" "01804" "GJC2_000078" "g.228346448C>A" "" "" "" "GJC2(NM_020435.3):c.989C>A (p.(Pro330Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990924" "0" "30" "1" "228346652" "228346652" "subst" "0.00149853" "02325" "GJC2_000009" "g.228346652C>T" "" "" "" "GJC2(NM_020435.3):c.1193C>T (p.T398I, p.(Thr398Ile)), GJC2(NM_020435.4):c.1193C>T (p.T398I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990925" "0" "30" "1" "228346652" "228346652" "subst" "0.00149853" "01804" "GJC2_000009" "g.228346652C>T" "" "" "" "GJC2(NM_020435.3):c.1193C>T (p.T398I, p.(Thr398Ile)), GJC2(NM_020435.4):c.1193C>T (p.T398I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990926" "0" "50" "1" "228346693" "228346693" "subst" "0.000771227" "01804" "GJC2_000037" "g.228346693C>T" "" "" "" "GJC2(NM_020435.3):c.1234C>T (p.H412Y, p.(His412Tyr)), GJC2(NM_020435.4):c.1234C>T (p.H412Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001011902" "1" "90" "1" "228337561" "228337561" "subst" "0" "00006" "GJC2_000079" "g.228337561A>G" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Germline" "" "" "0" "" "" "g.228149860A>G" "VCV000030759.1" "pathogenic (recessive)" "" "0001011973" "1" "90" "1" "228345521" "228345521" "subst" "0" "00006" "GJC2_000081" "g.228345521C>T" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Germline" "" "" "0" "" "" "g.228157820C>T" "SUB7803356" "pathogenic (recessive)" "" "0001011990" "2" "90" "1" "228345508" "228345508" "dup" "0" "00006" "GJC2_000080" "g.228345508dup" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Germline" "" "" "0" "" "" "g.228157807dup" "SUB77977777" "pathogenic (recessive)" "" "0001012012" "2" "90" "1" "228337561" "228337561" "subst" "0" "00006" "GJC2_000079" "g.228337561A>G" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Germline" "" "" "0" "" "" "g.228149860A>G" "VCV000030759.1" "pathogenic (recessive)" "" "0001031772" "0" "10" "1" "228345567" "228345567" "subst" "0.00286672" "01804" "GJC2_000042" "g.228345567C>T" "" "" "" "GJC2(NM_020435.4):c.108C>T (p.I36=, p.(Ile36=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001031773" "0" "30" "1" "228346053" "228346053" "subst" "0.0294986" "01804" "GJC2_000033" "g.228346053C>T" "" "" "" "GJC2(NM_020435.4):c.594C>T (p.H198=, p.(His198=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031774" "0" "30" "1" "228346189" "228346189" "subst" "0" "01804" "GJC2_000082" "g.228346189C>T" "" "" "" "GJC2(NM_020435.4):c.730C>T (p.(Pro244Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031775" "0" "10" "1" "228346425" "228346425" "subst" "0.0405769" "01804" "GJC2_000050" "g.228346425G>C" "" "" "" "GJC2(NM_020435.4):c.966G>C (p.A322=, p.(Ala322=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001050461" "0" "50" "1" "228345761" "228345761" "subst" "4.35476E-5" "01804" "GJC2_000083" "g.228345761G>T" "" "" "" "GJC2(NM_020435.4):c.302G>T (p.(Arg101Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050462" "0" "50" "1" "228346060" "228346060" "subst" "0" "01804" "GJC2_000084" "g.228346060C>T" "" "" "" "GJC2(NM_020435.4):c.601C>T (p.(Arg201Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050463" "0" "50" "1" "228346067" "228346067" "subst" "9.16531E-6" "01804" "GJC2_000085" "g.228346067G>A" "" "" "" "GJC2(NM_020435.4):c.608G>A (p.(Arg203His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 GJC2 ## Count = 110 "{{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}}" "0000085342" "00008544" "90" "857" "0" "857" "0" "c.857T>C" "r.(?)" "p.(Met286Thr)" "2" "0000085343" "00008544" "90" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Pro90Ser)" "2" "0000085344" "00008544" "90" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240*)" "2" "0000085345" "00008544" "90" "914" "0" "947" "0" "c.914_947del" "r.(?)" "p.(fs*)" "2" "0000085346" "00008544" "90" "914" "0" "947" "0" "c.914_947del" "r.(?)" "p.(fs*)" "2" "0000085347" "00008544" "90" "695" "0" "696" "0" "c.695_696insG" "r.(?)" "p.(fs*)" "2" "0000085348" "00008544" "90" "695" "0" "696" "0" "c.695_696insG" "r.(?)" "p.(fs*)" "2" "0000085349" "00008544" "90" "108" "0" "108" "0" "c.108C>G" "r.(?)" "p.(Ile36Met)" "2" "0000085365" "00008544" "90" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Ser48Leu)" "2" "0000085368" "00008544" "90" "778" "0" "778" "0" "c.778C>T" "r.(?)" "p.(Arg260Cys)" "2" "0000086018" "00008544" "90" "857" "0" "857" "0" "c.857T>C" "r.(?)" "p.(Met286Thr)" "2" "0000086019" "00008544" "90" "989" "0" "989" "0" "c.989del" "r.(?)" "p.(Pro330ArgfsTer141)" "2" "0000086020" "00008544" "90" "814" "0" "814" "0" "c.814T>G" "r.(?)" "p.(Tyr272Asp)" "2" "0000086021" "00008544" "90" "914" "0" "947" "0" "c.914_947del" "r.(?)" "p.(fs*)" "2" "0000086022" "00008544" "90" "914" "0" "947" "0" "c.914_947del" "r.(?)" "p.(fs*)" "2" "0000086023" "00008544" "90" "695" "0" "696" "0" "c.695_696insG" "r.(?)" "p.(fs*)" "2" "0000086024" "00008544" "90" "695" "0" "696" "0" "c.695_696insG" "r.(?)" "p.(fs*)" "2" "0000086025" "00008544" "90" "108" "0" "108" "0" "c.108C>G" "r.(?)" "p.(Ile36Met)" "2" "0000277304" "00008544" "10" "-14" "0" "-14" "0" "c.-14G>C" "r.(?)" "p.(=)" "" "0000277305" "00008544" "10" "1339" "0" "1339" "0" "c.*19T>A" "r.(=)" "p.(=)" "" "0000277306" "00008544" "90" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Ser48Leu)" "" "0000277307" "00008544" "10" "594" "0" "594" "0" "c.594C>T" "r.(?)" "p.(His198=)" "" "0000277308" "00008544" "50" "841" "0" "841" "0" "c.841C>T" "r.(?)" "p.(Leu281Phe)" "" "0000281044" "00008544" "30" "556" "0" "556" "0" "c.556G>T" "r.(?)" "p.(Gly186Cys)" "" "0000284642" "00008544" "30" "1128" "0" "1128" "0" "c.1128C>A" "r.(?)" "p.(Gly376=)" "" "0000288369" "00008544" "30" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(His412Tyr)" "" "0000288370" "00008544" "30" "147" "0" "147" "0" "c.147C>T" "r.(?)" "p.(Asp49=)" "" "0000288371" "00008544" "30" "575" "0" "575" "0" "c.575C>G" "r.(?)" "p.(Pro192Arg)" "" "0000321323" "00008544" "30" "-1303" "0" "-1303" "0" "c.-1303G>C" "r.(?)" "p.(=)" "" "0000321327" "00008544" "50" "947" "0" "947" "0" "c.947C>T" "r.(?)" "p.(Pro316Leu)" "" "0000321328" "00008544" "50" "1150" "0" "1150" "0" "c.1150C>T" "r.(?)" "p.(Pro384Ser)" "" "0000342373" "00008544" "90" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240Ter)" "" "0000474929" "00008544" "50" "623" "0" "623" "0" "c.623G>T" "r.(?)" "p.(Gly208Val)" "" "0000474930" "00008544" "50" "-144" "0" "-142" "0" "c.-144_-142del" "r.(?)" "p.(=)" "" "0000505754" "00008544" "10" "108" "0" "108" "0" "c.108C>T" "r.(?)" "p.(Ile36=)" "" "0000505755" "00008544" "50" "138" "0" "138" "0" "c.138C>G" "r.(?)" "p.(Ile46Met)" "" "0000505756" "00008544" "30" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Gly149Ser)" "" "0000505757" "00008544" "30" "452" "0" "452" "0" "c.452G>T" "r.(?)" "p.(Gly151Val)" "" "0000505758" "00008544" "10" "472" "0" "474" "0" "c.472_474del" "r.(?)" "p.(Glu158del)" "" "0000505759" "00008544" "10" "528" "0" "528" "0" "c.528G>A" "r.(?)" "p.(Glu176=)" "" "0000505760" "00008544" "50" "556" "0" "556" "0" "c.556G>T" "r.(?)" "p.(Gly186Cys)" "" "0000505761" "00008544" "30" "575" "0" "575" "0" "c.575C>G" "r.(?)" "p.(Pro192Arg)" "" "0000505762" "00008544" "30" "575" "0" "575" "0" "c.575C>G" "r.(?)" "p.(Pro192Arg)" "" "0000505763" "00008544" "50" "607" "0" "607" "0" "c.607C>T" "r.(?)" "p.(Arg203Cys)" "" "0000505764" "00008544" "30" "634" "0" "634" "0" "c.634G>A" "r.(?)" "p.(Val212Met)" "" "0000505765" "00008544" "50" "697" "0" "697" "0" "c.697C>G" "r.(?)" "p.(Leu233Val)" "" "0000505766" "00008544" "90" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240Ter)" "" "0000505767" "00008544" "50" "902" "0" "902" "0" "c.902G>C" "r.(?)" "p.(Arg301Pro)" "" "0000505768" "00008544" "30" "947" "0" "947" "0" "c.947C>T" "r.(?)" "p.(Pro316Leu)" "" "0000505769" "00008544" "10" "966" "0" "966" "0" "c.966G>C" "r.(?)" "p.(Ala322=)" "" "0000505770" "00008544" "30" "990" "0" "990" "0" "c.990G>C" "r.(?)" "p.(Pro330=)" "" "0000505771" "00008544" "30" "1027" "0" "1027" "0" "c.1027G>T" "r.(?)" "p.(Ala343Ser)" "" "0000505772" "00008544" "50" "1150" "0" "1150" "0" "c.1150C>T" "r.(?)" "p.(Pro384Ser)" "" "0000505773" "00008544" "30" "1193" "0" "1193" "0" "c.1193C>T" "r.(?)" "p.(Thr398Ile)" "" "0000505774" "00008544" "30" "1193" "0" "1193" "0" "c.1193C>T" "r.(?)" "p.(Thr398Ile)" "" "0000505775" "00008544" "50" "1193" "0" "1193" "0" "c.1193C>T" "r.(?)" "p.(Thr398Ile)" "" "0000605234" "00008544" "50" "-1" "0" "4" "0" "c.-1_4del" "r.?" "p.?" "" "0000605235" "00008544" "30" "462" "0" "462" "0" "c.462G>A" "r.(?)" "p.(Glu154=)" "" "0000605236" "00008544" "30" "947" "0" "947" "0" "c.947C>T" "r.(?)" "p.(Pro316Leu)" "" "0000605237" "00008544" "30" "1193" "0" "1193" "0" "c.1193C>T" "r.(?)" "p.(Thr398Ile)" "" "0000620535" "00008544" "30" "30" "0" "30" "0" "c.30G>C" "r.(?)" "p.(Thr10=)" "" "0000620536" "00008544" "30" "1027" "0" "1027" "0" "c.1027G>T" "r.(?)" "p.(Ala343Ser)" "" "0000620537" "00008544" "30" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(His412Tyr)" "" "0000653925" "00008544" "30" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Gly134Ser)" "" "0000675683" "00008544" "90" "310" "0" "310" "0" "c.310del" "r.(?)" "p.(Arg104ValfsTer106)" "" "0000675684" "00008544" "50" "1049" "0" "1049" "0" "c.1049T>A" "r.(?)" "p.(Leu350Gln)" "" "0000683554" "00008544" "70" "755" "0" "755" "0" "c.755A>G" "r.(?)" "p.(His252Arg)" "" "0000717237" "00008544" "30" "-19" "-3" "-19" "-2" "c.-19-3_-19-2insCGGGG" "r.spl?" "p.?" "" "0000717238" "00008544" "30" "84" "0" "84" "0" "c.84C>A" "r.(?)" "p.(Leu28=)" "" "0000717239" "00008544" "50" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111Cys)" "" "0000717240" "00008544" "30" "402" "0" "402" "0" "c.402C>G" "r.(?)" "p.(Gly134=)" "" "0000759812" "00008544" "90" "107" "0" "107" "0" "c.107del" "r.(?)" "p.(Ile36Thrfs*3)" "" "0000786873" "00008544" "70" "138" "0" "138" "0" "c.138C>G" "r.(?)" "p.(Ile46Met)" "2" "0000786874" "00008544" "90" "508" "0" "508" "0" "c.508del" "r.(?)" "p.(Glu170ArgfsTer40)" "2" "0000787480" "00008544" "70" "982" "0" "982" "0" "c.982del" "r.(?)" "p.(Ala328ProfsTer143)" "2" "0000799146" "00008544" "30" "1210" "0" "1210" "0" "c.1210G>A" "r.(?)" "p.(Gly404Arg)" "" "0000799147" "00008544" "50" "1256" "0" "1256" "0" "c.1256C>T" "r.(?)" "p.(Pro419Leu)" "" "0000857320" "00008544" "50" "448" "0" "448" "0" "c.448C>G" "r.(?)" "p.(Leu150Val)" "" "0000857321" "00008544" "50" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Arg247His)" "" "0000857322" "00008544" "50" "817" "0" "817" "0" "c.817G>C" "r.(?)" "p.(Val273Leu)" "" "0000883187" "00008544" "30" "599" "0" "599" "0" "c.599G>A" "r.(?)" "p.(Gly200Glu)" "" "0000910953" "00008544" "30" "556" "0" "556" "0" "c.556G>T" "r.(?)" "p.(Gly186Cys)" "" "0000923093" "00008544" "30" "1274" "0" "1274" "0" "c.1274A>G" "r.(?)" "p.(Lys425Arg)" "" "0000947164" "00008544" "50" "697" "0" "697" "0" "c.697C>G" "r.(?)" "p.(Leu233Val)" "" "0000960881" "00008544" "30" "108" "0" "108" "0" "c.108C>T" "r.(?)" "p.(Ile36=)" "" "0000973734" "00008544" "50" "556" "0" "556" "0" "c.556G>T" "r.(?)" "p.(Gly186Cys)" "" "0000973735" "00008544" "90" "591" "0" "591" "0" "c.591dup" "r.(?)" "p.(His198ThrfsTer66)" "" "0000973736" "00008544" "50" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Arg247His)" "" "0000973737" "00008544" "50" "817" "0" "817" "0" "c.817G>C" "r.(?)" "p.(Val273Leu)" "" "0000990917" "00008544" "50" "-3092" "0" "-3092" "0" "c.-3092C>T" "r.(?)" "p.(=)" "" "0000990918" "00008544" "50" "-1606" "0" "-1606" "0" "c.-1606C>T" "r.(?)" "p.(=)" "" "0000990919" "00008544" "30" "-1298" "0" "-1298" "0" "c.-1298C>G" "r.(?)" "p.(=)" "" "0000990920" "00008544" "50" "287" "0" "287" "0" "c.287G>T" "r.(?)" "p.(Gly96Val)" "" "0000990921" "00008544" "30" "575" "0" "575" "0" "c.575C>G" "r.(?)" "p.(Pro192Arg)" "" "0000990922" "00008544" "90" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240Ter)" "" "0000990923" "00008544" "50" "989" "0" "989" "0" "c.989C>A" "r.(?)" "p.(Pro330Gln)" "" "0000990924" "00008544" "30" "1193" "0" "1193" "0" "c.1193C>T" "r.(?)" "p.(Thr398Ile)" "" "0000990925" "00008544" "30" "1193" "0" "1193" "0" "c.1193C>T" "r.(?)" "p.(Thr398Ile)" "" "0000990926" "00008544" "50" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(His412Tyr)" "" "0001011902" "00008544" "90" "-167" "0" "-167" "0" "c.-167A>G" "r.?" "p.?" "" "0001011973" "00008544" "90" "62" "0" "62" "0" "c.62C>T" "r.(?)" "p.(Thr21Ile)" "" "0001011990" "00008544" "90" "49" "0" "49" "0" "c.49dup" "r.(?)" "p.(His17ProfsTer53)" "" "0001012012" "00008544" "90" "-167" "0" "-167" "0" "c.-167A>G" "r.?" "p.?" "" "0001031772" "00008544" "10" "108" "0" "108" "0" "c.108C>T" "r.(?)" "p.(Ile36=)" "" "0001031773" "00008544" "30" "594" "0" "594" "0" "c.594C>T" "r.(?)" "p.(His198=)" "" "0001031774" "00008544" "30" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Pro244Ser)" "" "0001031775" "00008544" "10" "966" "0" "966" "0" "c.966G>C" "r.(?)" "p.(Ala322=)" "" "0001050461" "00008544" "50" "302" "0" "302" "0" "c.302G>T" "r.(?)" "p.(Arg101Leu)" "" "0001050462" "00008544" "50" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Arg201Trp)" "" "0001050463" "00008544" "50" "608" "0" "608" "0" "c.608G>A" "r.(?)" "p.(Arg203His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 29 "{{screeningid}}" "{{variantid}}" "0000055321" "0000085342" "0000055321" "0000086018" "0000055322" "0000085343" "0000055322" "0000086019" "0000055323" "0000085344" "0000055323" "0000086020" "0000055324" "0000085345" "0000055324" "0000086021" "0000055325" "0000085346" "0000055325" "0000086022" "0000055326" "0000085347" "0000055326" "0000086023" "0000055327" "0000085348" "0000055327" "0000086024" "0000055328" "0000085349" "0000055328" "0000086025" "0000055344" "0000085365" "0000055347" "0000085368" "0000232513" "0000474929" "0000232513" "0000474930" "0000309091" "0000683554" "0000360113" "0000759812" "0000375522" "0000786873" "0000375522" "0000787480" "0000375523" "0000786874" "0000457399" "0001011902" "0000457399" "0001011990" "0000457470" "0001011973" "0000457470" "0001012012"