### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CTNND2) # 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}}" "CTNND2" "catenin (cadherin-associated protein), delta 2" "5" "p15.2" "unknown" "NG_023544.2" "UD_132085275419" "" "https://www.LOVD.nl/CTNND2" "" "1" "2516" "1501" "604275" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2019-04-10 21:01:41" "00006" "2025-07-17 09:51:18" ## 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}}" "00000511" "CTNND2" "catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)" "001" "NM_001332.2" "" "NP_001323.1" "" "" "" "-145" "5291" "3678" "10971952" "11904110" "00000" "2012-09-13 12:25:58" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "00291" "ADHD" "attention deficit-hyperactivity disorder (ADHD)" "AD" "143465" "" "" "" "00006" "2013-12-20 10:47:26" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05408" "FAME" "epilepsy, myoclonic, familial adult (FAME)" "" "" "" "autosomal dominant; myoclonic tremor (cortical tremor), infrequent epilepsy with benign clinical course" "alias familial essential myoclonus and epilepsy; cortical tremor; benign adult familial myoclonic epilepsy (BAFME); familial adult myoclonic epilepsy (FAME); autosomal dominant cortical tremor, myoclonus and epilepsy; familial cortical myoclonic tremor with epilepsy (FCMTE)" "00006" "2018-03-18 16:17:05" "00006" "2021-10-25 15:27:58" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CTNND2" "05408" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00050565" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00209010" "" "" "" "1" "" "00006" "{PMID:Lionel 2018:28771251}" "" "" "" "Canada" "" "0" "" "" "" "28771251-Pat38" "00229779" "" "" "" "18" "" "00006" "{PMID:van Rootselaar 2017:29127138}, {PMID:Florion 2019:31664039}" "5-generation family, 18 affected" "F;M" "no" "Netherlands" "" "0" "" "" "" "FamFMTCE3/Fam3" "00466030" "" "" "" "1" "" "04866" "" "" "M" "" "Hong Kong" "" "" "" "" "Chinese" "260C" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00050565" "00198" "00209010" "00198" "00229779" "05408" "00466030" "00291" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00291, 01157, 05408 ## Count = 4 "{{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}}" "0000037177" "00198" "00050565" "00006" "Isolated (sporadic)" "" "cognitive impairment, restlessness, inappropriate behavior" "" "" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000172985" "05408" "00229779" "00006" "Familial, autosomal dominant" "" "see paper; ..., tremulous movements, either in combination with electrophysiologic features of cortical reflex myoclonus including giant-somatosensory evoked potential and long latency reflex, or in combination with history of generalized epileptic seizures, and exclusion of other causes of tremor/myoclonus/epilepsy" "" "" "" "" "" "" "" "" "FAME3" "FMCTE" "" "0000351414" "00291" "00466030" "04866" "Unknown" "6y-15y" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000050510" "00050565" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000210067" "00209010" "1" "00006" "00006" "2018-12-22 15:10:51" "00006" "2018-12-22 15:56:21" "SEQ-NG" "DNA" "" "WGS" "0000230872" "00229779" "1" "00006" "00006" "2019-04-10 20:30:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467681" "00466030" "1" "04866" "04866" "2025-07-08 11:25:35" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000050510" "GSPT2" "0000210067" "CTNND2" "0000230872" "CTNND2" ## 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 = 66 "{{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}}" "0000012099" "3" "50" "5" "11302509" "11302509" "subst" "0" "00037" "CTNND2_000001" "g.11302509C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.11302397C>T" "" "VUS" "" "0000079490" "0" "90" "5" "10973413" "15937446" "del" "0" "00006" "CTNND2_000002" "g.10973413_15937446del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000268615" "0" "50" "5" "11082931" "11082931" "subst" "0" "02329" "CTNND2_000004" "g.11082931G>A" "" "" "" "CTNND2(NM_001332.3):c.2665C>T (p.R889*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11082819G>A" "" "VUS" "" "0000274587" "0" "30" "5" "11364826" "11364826" "subst" "0" "01943" "CTNND2_000007" "g.11364826T>C" "" "" "" "CTNND2(NM_001332.3):c.1354A>G (p.T452A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11364714T>C" "" "likely benign" "" "0000274588" "0" "30" "5" "11346714" "11346714" "subst" "0" "01943" "CTNND2_000006" "g.11346714G>C" "" "" "" "CTNND2(NM_001332.3):c.1398C>G (p.S466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11346602G>C" "" "likely benign" "" "0000274589" "0" "50" "5" "11346601" "11346601" "subst" "1.25911E-5" "01943" "CTNND2_000005" "g.11346601C>T" "" "" "" "CTNND2(NM_001332.3):c.1511G>A (p.R504Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11346489C>T" "" "VUS" "" "0000274590" "0" "30" "5" "10988278" "10988278" "subst" "8.1213E-6" "01943" "CTNND2_000003" "g.10988278G>A" "" "" "" "CTNND2(NM_001332.3):c.3288C>T (p.N1096=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10988166G>A" "" "likely benign" "" "0000330261" "0" "50" "5" "11385215" "11385220" "dup" "0" "01804" "CTNND2_000008" "g.11385215_11385220dup" "" "" "" "CTNND2(NM_001332.2):c.752_753insCGCCGC (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11385103_11385108dup" "" "VUS" "" "0000344878" "0" "50" "5" "11346592" "11346592" "subst" "0.000409262" "02327" "CTNND2_000010" "g.11346592T>G" "" "" "" "CTNND2(NM_001332.3):c.1520A>C (p.Q507P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11346480T>G" "" "VUS" "" "0000347275" "0" "50" "5" "11159811" "11159811" "subst" "0" "02327" "CTNND2_000009" "g.11159811A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.11159699A>G" "" "VUS" "" "0000441235" "11" "90" "5" "11132201" "11317200" "del" "0" "00006" "CTNND2_000011" "g.11132201_11317200del" "" "{PMID:Lionel 2018:28771251}" "" "" "" "Germline" "" "" "0" "" "" "g.11132089_11317088del" "" "VUS" "" "0000472546" "1" "55" "5" "10992744" "10992744" "subst" "0" "00006" "CTNND2_000012" "g.10992744C>T" "" "{PMID:van Rootselaar 2017:29127138}, {PMID:Florion 2019:31664039}" "" "" "segregates in 15/16 definitely or probably affected family members; performed functional analysis; pathogenicity variant reclassified (Florion 2019)" "Germline" "no" "" "0" "" "" "g.10992632C>T" "" "VUS" "" "0000523636" "0" "30" "5" "10973781" "10973781" "subst" "0.00268325" "02326" "CTNND2_000013" "g.10973781G>A" "" "" "" "CTNND2(NM_001332.4):c.3462C>T (p.Y1154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10973669G>A" "" "likely benign" "" "0000523637" "0" "30" "5" "10992766" "10992766" "subst" "2.03087E-5" "02326" "CTNND2_000014" "g.10992766A>G" "" "" "" "CTNND2(NM_001332.4):c.3108T>C (p.F1036=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10992654A>G" "" "likely benign" "" "0000523654" "0" "30" "5" "11022864" "11022864" "subst" "0.000378523" "02326" "CTNND2_000015" "g.11022864G>A" "" "" "" "CTNND2(NM_001332.4):c.2999+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11022752G>A" "" "likely benign" "" "0000523655" "0" "30" "5" "11023077" "11023077" "subst" "0" "01943" "CTNND2_000016" "g.11023077G>T" "" "" "" "CTNND2(NM_001332.3):c.2803C>A (p.R935=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11022965G>T" "" "likely benign" "" "0000523657" "0" "30" "5" "11098866" "11098866" "subst" "0.000861027" "02326" "CTNND2_000017" "g.11098866G>A" "" "" "" "CTNND2(NM_001332.4):c.2464-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11098754G>A" "" "likely benign" "" "0000523658" "0" "30" "5" "11159842" "11159842" "subst" "0" "02327" "CTNND2_000018" "g.11159842C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11159730C>T" "" "likely benign" "" "0000523659" "0" "30" "5" "11199788" "11199788" "subst" "0.000428103" "02326" "CTNND2_000019" "g.11199788G>A" "" "" "" "CTNND2(NM_001332.4):c.1762-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11199676G>A" "" "likely benign" "" "0000523847" "0" "30" "5" "11236869" "11236869" "subst" "2.03042E-5" "02326" "CTNND2_000020" "g.11236869C>T" "" "" "" "CTNND2(NM_001332.4):c.1695G>A (p.S565=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11236757C>T" "" "likely benign" "" "0000523859" "0" "30" "5" "11346466" "11346466" "subst" "0.000595256" "02326" "CTNND2_000021" "g.11346466A>G" "" "" "" "CTNND2(NM_001332.4):c.1628+18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11346354A>G" "" "likely benign" "" "0000523860" "0" "30" "5" "11346546" "11346546" "subst" "0" "01943" "CTNND2_000022" "g.11346546A>G" "" "" "" "CTNND2(NM_001332.3):c.1566T>C (p.A522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11346434A>G" "" "likely benign" "" "0000523861" "0" "50" "5" "11384999" "11384999" "subst" "0" "02326" "CTNND2_000023" "g.11384999T>C" "" "" "" "CTNND2(NM_001332.4):c.955A>G (p.I319V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11384887T>C" "" "VUS" "" "0000523862" "0" "50" "5" "11385071" "11385071" "subst" "0" "01943" "CTNND2_000024" "g.11385071G>A" "" "" "" "CTNND2(NM_001332.3):c.883C>T (p.P295S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11384959G>A" "" "VUS" "" "0000523864" "0" "30" "5" "11385218" "11385220" "del" "0" "02326" "CTNND2_000026" "g.11385218_11385220del" "" "" "" "CTNND2(NM_001332.4):c.750_752delCGC (p.A251del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11385106_11385108del" "" "likely benign" "" "0000609361" "0" "30" "5" "11111000" "11111002" "del" "0" "01943" "CTNND2_000028" "g.11111000_11111002del" "" "" "" "CTNND2(NM_001332.3):c.2442_2444delGAA (p.K817del), CTNND2(NM_001332.4):c.2442_2444delGAA (p.K817del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11110888_11110890del" "" "likely benign" "" "0000609362" "0" "90" "5" "11111142" "11111143" "del" "0" "02325" "CTNND2_000029" "g.11111142_11111143del" "" "" "" "CTNND2(NM_001332.4):c.2296_2297delTG (p.C766Hfs*38)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11111030_11111031del" "" "pathogenic" "" "0000609401" "0" "50" "5" "11346632" "11346632" "subst" "0.000201388" "02325" "CTNND2_000031" "g.11346632C>T" "" "" "" "CTNND2(NM_001332.3):c.1480G>A (p.G494S), CTNND2(NM_001332.4):c.1480G>A (p.G494S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11346520C>T" "" "VUS" "" "0000609402" "0" "30" "5" "11385151" "11385151" "subst" "0.000622665" "02326" "CTNND2_000032" "g.11385151G>T" "" "" "" "CTNND2(NM_001332.4):c.803C>A (p.P268Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11385039G>T" "" "likely benign" "" "0000609403" "0" "30" "5" "11411638" "11411638" "subst" "1.69814E-5" "01943" "CTNND2_000034" "g.11411638C>T" "" "" "" "CTNND2(NM_001332.3):c.439+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11411526C>T" "" "likely benign" "" "0000621442" "0" "50" "5" "11159721" "11159721" "dup" "0" "02329" "CTNND2_000030" "g.11159721dup" "" "" "" "CTNND2(NM_001332.3):c.2126dupC (p.Q710Tfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.11159609dup" "" "VUS" "" "0000677349" "0" "30" "5" "11084010" "11084010" "subst" "0" "01943" "CTNND2_000035" "g.11084010C>G" "" "" "" "CTNND2(NM_001332.3):c.2638-1052G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677350" "0" "50" "5" "11111000" "11111002" "del" "0" "02325" "CTNND2_000028" "g.11111000_11111002del" "" "" "" "CTNND2(NM_001332.3):c.2442_2444delGAA (p.K817del), CTNND2(NM_001332.4):c.2442_2444delGAA (p.K817del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677357" "0" "30" "5" "11565044" "11565044" "subst" "0.000518621" "02326" "CTNND2_000036" "g.11565044C>T" "" "" "" "CTNND2(NM_001332.4):c.287+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689367" "0" "30" "5" "11111117" "11111117" "subst" "0.000987676" "02326" "CTNND2_000037" "g.11111117C>T" "" "" "" "CTNND2(NM_001332.4):c.2316G>A (p.S772=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689368" "0" "30" "5" "11117544" "11117544" "subst" "0.000150542" "02326" "CTNND2_000038" "g.11117544T>C" "" "" "" "CTNND2(NM_001332.4):c.2277+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689392" "0" "50" "5" "11346592" "11346592" "subst" "0.000409262" "01943" "CTNND2_000010" "g.11346592T>G" "" "" "" "CTNND2(NM_001332.3):c.1520A>C (p.Q507P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689393" "0" "50" "5" "11412180" "11412180" "subst" "1.22637E-5" "01943" "CTNND2_000039" "g.11412180A>C" "" "" "" "CTNND2(NM_001332.3):c.289T>G (p.S97A), CTNND2(NM_001332.4):c.289T>G (p.S97A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720066" "0" "30" "5" "11098865" "11098865" "subst" "0.00171195" "02325" "CTNND2_000040" "g.11098865C>T" "" "" "" "CTNND2(NM_001332.4):c.2464-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720068" "0" "30" "5" "11117619" "11117619" "subst" "4.06141E-6" "01943" "CTNND2_000041" "g.11117619C>T" "" "" "" "CTNND2(NM_001332.3):c.2220G>A (p.T740=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801805" "0" "50" "5" "11346632" "11346632" "subst" "0.000201388" "01943" "CTNND2_000031" "g.11346632C>T" "" "" "" "CTNND2(NM_001332.3):c.1480G>A (p.G494S), CTNND2(NM_001332.4):c.1480G>A (p.G494S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801806" "0" "30" "5" "11397161" "11397161" "subst" "0.000349827" "01943" "CTNND2_000042" "g.11397161C>T" "" "" "" "CTNND2(NM_001332.3):c.594G>A (p.T198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850700" "0" "50" "5" "10973825" "10973825" "subst" "0" "01943" "CTNND2_000043" "g.10973825C>T" "" "" "" "CTNND2(NM_001332.3):c.3418G>A (p.V1140I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850709" "0" "30" "5" "11082818" "11082818" "subst" "9.77509E-5" "01943" "CTNND2_000044" "g.11082818C>T" "" "" "" "CTNND2(NM_001332.3):c.2778G>A (p.K926=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850733" "0" "30" "5" "11364884" "11364884" "subst" "8.15634E-6" "01943" "CTNND2_000045" "g.11364884G>A" "" "" "" "CTNND2(NM_001332.3):c.1296C>T (p.P432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886479" "0" "30" "5" "11098738" "11098738" "subst" "0" "02325" "CTNND2_000046" "g.11098738C>A" "" "" "" "CTNND2(NM_001332.4):c.2586G>T (p.T862=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886538" "0" "50" "5" "11384999" "11384999" "subst" "0" "02325" "CTNND2_000023" "g.11384999T>C" "" "" "" "CTNND2(NM_001332.4):c.955A>G (p.I319V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912168" "0" "50" "5" "10973660" "10973660" "subst" "3.25362E-5" "02325" "CTNND2_000047" "g.10973660C>T" "" "" "" "CTNND2(NM_001332.4):c.3583G>A (p.G1195S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924204" "0" "50" "5" "11411710" "11411710" "subst" "0" "02327" "CTNND2_000048" "g.11411710G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948432" "0" "50" "5" "11412180" "11412180" "subst" "1.22637E-5" "02325" "CTNND2_000039" "g.11412180A>C" "" "" "" "CTNND2(NM_001332.3):c.289T>G (p.S97A), CTNND2(NM_001332.4):c.289T>G (p.S97A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976447" "0" "50" "5" "10973726" "10973726" "subst" "8.16466E-6" "01804" "CTNND2_000050" "g.10973726C>T" "" "" "" "CTNND2(NM_001332.4):c.3517G>A (p.(Glu1173Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976448" "0" "30" "5" "11099069" "11099069" "subst" "0" "01804" "CTNND2_000051" "g.11099069A>T" "" "" "" "CTNND2(NM_001332.4):c.2464-209T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976449" "0" "50" "5" "11111097" "11111097" "subst" "4.06934E-6" "01804" "CTNND2_000052" "g.11111097G>A" "" "" "" "CTNND2(NM_001332.4):c.2336C>T (p.(Thr779Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976475" "0" "30" "5" "11364898" "11364898" "subst" "0.000277126" "01804" "CTNND2_000053" "g.11364898C>T" "" "" "" "CTNND2(NM_001332.4):c.1282G>A (p.(Val428Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994521" "0" "50" "5" "11018109" "11018109" "subst" "0" "01804" "CTNND2_000054" "g.11018109C>T" "" "" "" "CTNND2(NM_001288715.1):c.2788G>A (p.(Gly930Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994523" "0" "50" "5" "11117634" "11117634" "subst" "0" "01804" "CTNND2_000055" "g.11117634C>G" "" "" "" "CTNND2(NM_001332.2):c.2205G>C (p.(Glu735Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994564" "0" "50" "5" "11384923" "11384923" "subst" "0" "01804" "CTNND2_000056" "g.11384923G>C" "" "" "" "CTNND2(NM_001332.2):c.1031C>G (p.(Ser344Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994565" "0" "50" "5" "11732304" "11732304" "subst" "1.2189E-5" "01804" "CTNND2_000057" "g.11732304C>T" "" "" "" "CTNND2(NM_001332.2):c.118G>A (p.(Gly40Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034761" "0" "30" "5" "10981934" "10981934" "subst" "3.6605E-5" "01804" "CTNND2_000058" "g.10981934A>G" "" "" "" "CTNND2(NM_001332.4):c.3368T>C (p.(Leu1123Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034762" "0" "50" "5" "10988364" "10988364" "subst" "1.21898E-5" "01804" "CTNND2_000059" "g.10988364G>T" "" "" "" "CTNND2(NM_001332.4):c.3212-10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034764" "0" "50" "5" "11023031" "11023031" "subst" "0" "01804" "CTNND2_000060" "g.11023031G>A" "" "" "" "CTNND2(NM_001332.4):c.2849C>T (p.(Thr950Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034767" "0" "30" "5" "11082411" "11082411" "subst" "0" "01804" "CTNND2_000061" "g.11082411A>T" "" "" "" "CTNND2(NM_001332.4):c.2788+397T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034802" "0" "50" "5" "11364813" "11364813" "subst" "0" "01804" "CTNND2_000062" "g.11364813C>A" "" "" "" "CTNND2(NM_001332.4):c.1367G>T (p.(Ser456Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034805" "0" "50" "5" "11384990" "11384990" "subst" "0" "01804" "CTNND2_000063" "g.11384990A>T" "" "" "" "CTNND2(NM_001332.4):c.964T>A (p.(Ser322Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034806" "0" "50" "5" "11385231" "11385232" "ins" "0" "01804" "CTNND2_000064" "g.11385231_11385232insA" "" "" "" "CTNND2(NM_001332.4):c.722_723insT (p.(Asp242Argfs*184))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045581" "0" "50" "5" "11512235" "11527596" "delins" "0" "04866" "CTNND2_000065" "g.11512235_11527596delinsCTAGG" "1/12 trios" "" "" "" "" "De novo" "-" "" "0" "" "" "g.11512123_11527484delinsCTAGG" "" "VUS" "ACMG" ## 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 CTNND2 ## Count = 66 "{{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}}" "0000012099" "00000511" "50" "1628" "43975" "1628" "43975" "c.1628+43975G>A" "r.(=)" "p.(=)" "" "0000079490" "00000511" "00" "-4033481" "0" "3830" "0" "c.-4033481_*152del" "r.?" "p.?" "" "0000268615" "00000511" "50" "2665" "0" "2665" "0" "c.2665C>T" "r.(?)" "p.(Arg889Ter)" "" "0000274587" "00000511" "30" "1354" "0" "1354" "0" "c.1354A>G" "r.(?)" "p.(Thr452Ala)" "" "0000274588" "00000511" "30" "1398" "0" "1398" "0" "c.1398C>G" "r.(?)" "p.(Ser466=)" "" "0000274589" "00000511" "50" "1511" "0" "1511" "0" "c.1511G>A" "r.(?)" "p.(Arg504Gln)" "" "0000274590" "00000511" "30" "3288" "0" "3288" "0" "c.3288C>T" "r.(?)" "p.(Asn1096=)" "" "0000330261" "00000511" "50" "747" "0" "752" "0" "c.747_752dup" "r.(?)" "p.(Ala250_Ala251dup)" "" "0000344878" "00000511" "50" "1520" "0" "1520" "0" "c.1520A>C" "r.(?)" "p.(Gln507Pro)" "" "0000347275" "00000511" "50" "2036" "0" "2036" "0" "c.2036T>C" "r.(?)" "p.(Leu679Pro)" "" "0000441235" "00000511" "90" "1628" "29284" "2160" "-14522" "c.1628+29284_2160-14522del" "r.(?)" "p.(Glu544_Arg720del)" "" "0000472546" "00000511" "55" "3130" "0" "3130" "0" "c.3130G>A" "r.(?)" "p.(Glu1044Lys)" "" "0000523636" "00000511" "30" "3462" "0" "3462" "0" "c.3462C>T" "r.(?)" "p.(Tyr1154=)" "" "0000523637" "00000511" "30" "3108" "0" "3108" "0" "c.3108T>C" "r.(?)" "p.(Phe1036=)" "" "0000523654" "00000511" "30" "2999" "17" "2999" "17" "c.2999+17C>T" "r.(=)" "p.(=)" "" "0000523655" "00000511" "30" "2803" "0" "2803" "0" "c.2803C>A" "r.(?)" "p.(Arg935=)" "" "0000523657" "00000511" "30" "2464" "-6" "2464" "-6" "c.2464-6C>T" "r.(=)" "p.(=)" "" "0000523658" "00000511" "30" "2005" "0" "2005" "0" "c.2005G>A" "r.(?)" "p.(Ala669Thr)" "" "0000523659" "00000511" "30" "1762" "-15" "1762" "-15" "c.1762-15C>T" "r.(=)" "p.(=)" "" "0000523847" "00000511" "30" "1695" "0" "1695" "0" "c.1695G>A" "r.(?)" "p.(Ser565=)" "" "0000523859" "00000511" "30" "1628" "18" "1628" "18" "c.1628+18T>C" "r.(=)" "p.(=)" "" "0000523860" "00000511" "30" "1566" "0" "1566" "0" "c.1566T>C" "r.(?)" "p.(Ala522=)" "" "0000523861" "00000511" "50" "955" "0" "955" "0" "c.955A>G" "r.(?)" "p.(Ile319Val)" "" "0000523862" "00000511" "50" "883" "0" "883" "0" "c.883C>T" "r.(?)" "p.(Pro295Ser)" "" "0000523864" "00000511" "30" "750" "0" "752" "0" "c.750_752del" "r.(?)" "p.(Ala251del)" "" "0000609361" "00000511" "30" "2442" "0" "2444" "0" "c.2442_2444del" "r.(?)" "p.(Lys817del)" "" "0000609362" "00000511" "90" "2296" "0" "2297" "0" "c.2296_2297del" "r.(?)" "p.(Cys766HisfsTer38)" "" "0000609401" "00000511" "50" "1480" "0" "1480" "0" "c.1480G>A" "r.(?)" "p.(Gly494Ser)" "" "0000609402" "00000511" "30" "803" "0" "803" "0" "c.803C>A" "r.(?)" "p.(Pro268Gln)" "" "0000609403" "00000511" "30" "439" "10" "439" "10" "c.439+10G>A" "r.(=)" "p.(=)" "" "0000621442" "00000511" "50" "2126" "0" "2126" "0" "c.2126dup" "r.(?)" "p.(Gln710ThrfsTer5)" "" "0000677349" "00000511" "30" "2638" "-1052" "2638" "-1052" "c.2638-1052G>C" "r.(=)" "p.(=)" "" "0000677350" "00000511" "50" "2442" "0" "2444" "0" "c.2442_2444del" "r.(?)" "p.(Lys817del)" "" "0000677357" "00000511" "30" "287" "12" "287" "12" "c.287+12G>A" "r.(=)" "p.(=)" "" "0000689367" "00000511" "30" "2316" "0" "2316" "0" "c.2316G>A" "r.(?)" "p.(Ser772=)" "" "0000689368" "00000511" "30" "2277" "18" "2277" "18" "c.2277+18A>G" "r.(=)" "p.(=)" "" "0000689392" "00000511" "50" "1520" "0" "1520" "0" "c.1520A>C" "r.(?)" "p.(Gln507Pro)" "" "0000689393" "00000511" "50" "289" "0" "289" "0" "c.289T>G" "r.(?)" "p.(Ser97Ala)" "" "0000720066" "00000511" "30" "2464" "-5" "2464" "-5" "c.2464-5G>A" "r.spl?" "p.?" "" "0000720068" "00000511" "30" "2220" "0" "2220" "0" "c.2220G>A" "r.(?)" "p.(Thr740=)" "" "0000801805" "00000511" "50" "1480" "0" "1480" "0" "c.1480G>A" "r.(?)" "p.(Gly494Ser)" "" "0000801806" "00000511" "30" "594" "0" "594" "0" "c.594G>A" "r.(?)" "p.(Thr198=)" "" "0000850700" "00000511" "50" "3418" "0" "3418" "0" "c.3418G>A" "r.(?)" "p.(Val1140Ile)" "" "0000850709" "00000511" "30" "2778" "0" "2778" "0" "c.2778G>A" "r.(?)" "p.(Lys926=)" "" "0000850733" "00000511" "30" "1296" "0" "1296" "0" "c.1296C>T" "r.(?)" "p.(Pro432=)" "" "0000886479" "00000511" "30" "2586" "0" "2586" "0" "c.2586G>T" "r.(?)" "p.(Thr862=)" "" "0000886538" "00000511" "50" "955" "0" "955" "0" "c.955A>G" "r.(?)" "p.(Ile319Val)" "" "0000912168" "00000511" "50" "3583" "0" "3583" "0" "c.3583G>A" "r.(?)" "p.(Gly1195Ser)" "" "0000924204" "00000511" "50" "377" "0" "377" "0" "c.377C>T" "r.(?)" "p.(Ser126Phe)" "" "0000948432" "00000511" "50" "289" "0" "289" "0" "c.289T>G" "r.(?)" "p.(Ser97Ala)" "" "0000976447" "00000511" "50" "3517" "0" "3517" "0" "c.3517G>A" "r.(?)" "p.(Glu1173Lys)" "" "0000976448" "00000511" "30" "2464" "-209" "2464" "-209" "c.2464-209T>A" "r.(=)" "p.(=)" "" "0000976449" "00000511" "50" "2336" "0" "2336" "0" "c.2336C>T" "r.(?)" "p.(Thr779Met)" "" "0000976475" "00000511" "30" "1282" "0" "1282" "0" "c.1282G>A" "r.(?)" "p.(Val428Ile)" "" "0000994521" "00000511" "50" "3061" "0" "3061" "0" "c.3061G>A" "r.(?)" "p.(Asp1021Asn)" "" "0000994523" "00000511" "50" "2205" "0" "2205" "0" "c.2205G>C" "r.(?)" "p.(Glu735Asp)" "" "0000994564" "00000511" "50" "1031" "0" "1031" "0" "c.1031C>G" "r.(?)" "p.(Ser344Trp)" "" "0000994565" "00000511" "50" "118" "0" "118" "0" "c.118G>A" "r.(?)" "p.(Gly40Arg)" "" "0001034761" "00000511" "30" "3368" "0" "3368" "0" "c.3368T>C" "r.(?)" "p.(Leu1123Ser)" "" "0001034762" "00000511" "50" "3212" "-10" "3212" "-10" "c.3212-10C>A" "r.(=)" "p.(=)" "" "0001034764" "00000511" "50" "2849" "0" "2849" "0" "c.2849C>T" "r.(?)" "p.(Thr950Ile)" "" "0001034767" "00000511" "30" "2788" "397" "2788" "397" "c.2788+397T>A" "r.(=)" "p.(=)" "" "0001034802" "00000511" "50" "1367" "0" "1367" "0" "c.1367G>T" "r.(?)" "p.(Ser456Ile)" "" "0001034805" "00000511" "50" "964" "0" "964" "0" "c.964T>A" "r.(?)" "p.(Ser322Thr)" "" "0001034806" "00000511" "50" "722" "0" "723" "0" "c.722_723insT" "r.(?)" "p.(Asp242Argfs*184)" "" "0001045581" "00000511" "50" "287" "37460" "287" "52821" "c.287+37460_287+52821delinsCCTAG" "r.(?)" "p.(=)" "3i" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000000210" "0000012099" "0000050510" "0000079490" "0000210067" "0000441235" "0000230872" "0000472546" "0000467681" "0001045581"