### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TANC2) # 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}}" "TANC2" "tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2" "17" "q23.3" "unknown" "NC_000017.10" "UD_136023435755" "" "https://www.LOVD.nl/TANC2" "" "1" "30212" "26115" "615047" "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" "00001" "2013-05-03 00:00:00" "00006" "2018-10-12 15:19:44" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00020739" "TANC2" "tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2" "001" "NM_025185.3" "" "NP_079461.2" "" "" "" "-23" "11724" "5973" "61086898" "61505067" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00183057" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}" "" "M" "" "Netherlands" "" "0" "" "" "" "23033978-Trio42" "00443879" "" "" "" "2" "" "00006" "{PMID:Chatron 2020:32282878}" "3-generation family, 2 affected brothesr, unaffected heterozygous parents/relatives" "M" "yes" "Turkey" "" "0" "" "" "" "FamEPatIII2" "00443880" "" "" "00443879" "1" "" "00006" "{PMID:Chatron 2020:32282878}" "brother" "M" "yes" "Turkey" "9d" "0" "" "" "" "FamEPatIII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00183057" "00139" "00443879" "06906" "00443880" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 06906 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000143810" "00139" "00183057" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability (ID)" "0000333156" "06906" "00443879" "00006" "Familial, autosomal recessive" "16m" "see paper; ..., 1m-epileptic spasms; 2m-seizure-free; EEG at onset hypsarrhythmic; axial hypotonia, spasticity; profound intellectual disability; pes equinovarus; no omphalocele; cleft palate; joint contractures; dysmorphic facial features; MRI brain 50d-normal, CT 2m-atlanto-axial anomaly, minimal hydrocephalus" "" "" "" "" "" "" "" "DEE89" "West syndrome" "0000333157" "06906" "00443880" "00006" "Familial, autosomal recessive" "9d" "see paper; ..., 9d-deceased; 1d-myoclonic seizure; pes equinovarus; no omphalocele; cleft palate; no joint contractures; no dysmorphic facial features; cranial ultrasound germinal matrix haemorrhage" "" "" "" "" "" "" "" "DEE89" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000184017" "00183057" "1" "00006" "00006" "2018-10-12 16:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445376" "00443879" "1" "00006" "00006" "2023-12-05 10:17:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445377" "00443880" "1" "00006" "00006" "2023-12-05 10:17:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 69 "{{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}}" "0000311702" "0" "10" "17" "61315272" "61315272" "subst" "0.488917" "02325" "TANC2_000002" "g.61315272G>A" "" "" "" "TANC2(NM_025185.4):c.645G>A (p.Q215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63237911G>A" "" "benign" "" "0000313224" "0" "70" "17" "61497541" "61497541" "subst" "0" "02329" "TANC2_000004" "g.61497541C>T" "" "" "" "TANC2(NM_025185.4):c.4198C>T (p.Q1400*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63420180C>T" "" "likely pathogenic" "" "0000325545" "0" "50" "17" "61498022" "61498022" "subst" "0" "01804" "TANC2_000006" "g.61498022C>T" "" "" "" "TANC2(NM_025185.3):c.4679C>T (p.(Ser1560Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63420661C>T" "" "VUS" "" "0000325546" "0" "30" "17" "61498067" "61498067" "subst" "2.03419E-5" "01804" "TANC2_000007" "g.61498067G>T" "" "" "" "TANC2(NM_025185.3):c.4724G>T (p.(Gly1575Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63420706G>T" "" "likely benign" "" "0000325549" "0" "50" "17" "61499087" "61499087" "subst" "4.06207E-6" "01804" "TANC2_000010" "g.61499087T>C" "" "" "" "TANC2(NM_025185.3):c.5744T>C (p.(Leu1915Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63421726T>C" "" "VUS" "" "0000339069" "0" "70" "17" "61498056" "61498059" "del" "0" "02327" "TANC2_000013" "g.61498056_61498059del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63420695_63420698del" "" "likely pathogenic" "" "0000341628" "0" "70" "17" "61466857" "61466857" "del" "0" "02327" "TANC2_000011" "g.61466857del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63389496del" "" "likely pathogenic" "" "0000344559" "0" "50" "17" "61497790" "61497790" "subst" "0" "02327" "TANC2_000012" "g.61497790C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63420429C>T" "" "VUS" "" "0000407955" "0" "70" "17" "61432669" "61432669" "subst" "4.11008E-6" "00006" "TANC2_000014" "g.61432669C>T" "" "{PMID:de Ligt 2012:23033978}" "" "NM_025185.3:c.2278C>T (Arg760Cys)" "candidate variant" "De novo" "" "" "0" "" "" "g.63355308C>T" "" "likely pathogenic" "" "0000562603" "0" "50" "17" "61498694" "61498694" "subst" "0" "01804" "TANC2_000019" "g.61498694C>T" "" "" "" "TANC2(NM_025185.3):c.5351C>T (p.(Pro1784Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63421333C>T" "" "VUS" "" "0000658223" "0" "70" "17" "61432724" "61432724" "subst" "0" "02327" "TANC2_000021" "g.61432724A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63355363A>T" "" "likely pathogenic" "" "0000680965" "0" "50" "17" "61278307" "61278307" "subst" "0" "02325" "TANC2_000022" "g.61278307G>C" "" "" "" "TANC2(NM_025185.4):c.536G>C (p.S179T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726595" "0" "50" "17" "61391977" "61391977" "subst" "4.06742E-6" "02329" "TANC2_000023" "g.61391977A>G" "" "" "" "TANC2(NM_025185.4):c.1166A>G (p.H389R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726596" "0" "50" "17" "61492917" "61492917" "subst" "8.12645E-6" "02329" "TANC2_000020" "g.61492917G>A" "" "" "" "TANC2(NM_025185.3):c.3797G>A (p.(Arg1266His)), TANC2(NM_025185.4):c.3797G>A (p.R1266H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808185" "0" "50" "17" "61473156" "61473156" "subst" "4.88958E-5" "02325" "TANC2_000024" "g.61473156G>A" "" "" "" "TANC2(NM_025185.3):c.2882G>A (p.(Arg961Gln)), TANC2(NM_025185.4):c.2882G>A (p.R961Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808186" "0" "30" "17" "61483598" "61483598" "subst" "0.00198604" "01943" "TANC2_000025" "g.61483598C>T" "" "" "" "TANC2(NM_025185.4):c.3327C>T (p.S1109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808187" "0" "30" "17" "61488943" "61488943" "subst" "0.000678652" "01943" "TANC2_000026" "g.61488943T>C" "" "" "" "TANC2(NM_025185.4):c.3439T>C (p.S1147P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808188" "0" "30" "17" "61490953" "61490953" "subst" "0.0026292" "02326" "TANC2_000027" "g.61490953C>T" "" "" "" "TANC2(NM_025185.4):c.3726C>T (p.I1242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855040" "0" "30" "17" "61176516" "61176516" "subst" "0.000184409" "02326" "TANC2_000028" "g.61176516G>T" "" "" "" "TANC2(NM_025185.4):c.140-20G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855041" "0" "30" "17" "61483598" "61483598" "subst" "0.00198604" "02326" "TANC2_000025" "g.61483598C>T" "" "" "" "TANC2(NM_025185.4):c.3327C>T (p.S1109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894138" "0" "50" "17" "61086969" "61086969" "subst" "1.6279E-5" "02329" "TANC2_000029" "g.61086969C>T" "" "" "" "TANC2(NM_025185.4):c.49C>T (p.R17C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894139" "0" "50" "17" "61391977" "61391977" "subst" "4.06742E-6" "02327" "TANC2_000023" "g.61391977A>G" "" "" "" "TANC2(NM_025185.4):c.1166A>G (p.H389R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894140" "0" "90" "17" "61432186" "61432186" "subst" "0" "02329" "TANC2_000030" "g.61432186C>T" "" "" "" "TANC2(NM_025185.4):c.1795C>T (p.R599*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000894141" "0" "70" "17" "61457134" "61457134" "subst" "0" "02327" "TANC2_000031" "g.61457134C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000894142" "0" "30" "17" "61498027" "61498027" "subst" "5.69754E-5" "02325" "TANC2_000032" "g.61498027G>A" "" "" "" "TANC2(NM_025185.4):c.4684G>A (p.V1562M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894143" "0" "50" "17" "61498904" "61498904" "subst" "0" "02325" "TANC2_000033" "g.61498904G>A" "" "" "" "TANC2(NM_025185.4):c.5561G>A (p.R1854Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914942" "0" "50" "17" "61432730" "61432730" "subst" "9.15642E-6" "02329" "TANC2_000034" "g.61432730C>T" "" "" "" "TANC2(NM_025185.4):c.2339C>T (p.T780I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926615" "0" "50" "17" "61428700" "61428700" "subst" "0" "02325" "TANC2_000035" "g.61428700G>T" "" "" "" "TANC2(NM_025185.4):c.1675G>T (p.V559L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926616" "0" "50" "17" "61497799" "61497799" "subst" "0" "02329" "TANC2_000036" "g.61497799T>C" "" "" "" "TANC2(NM_001394998.1):c.4708T>C (p.S1570P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926617" "0" "50" "17" "61498522" "61498522" "subst" "0" "02325" "TANC2_000037" "g.61498522C>T" "" "" "" "TANC2(NM_025185.4):c.5179C>T (p.P1727S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930865" "0" "70" "17" "61391841" "61391841" "subst" "0" "02325" "TANC2_000038" "g.61391841C>T" "" "" "" "TANC2(NM_025185.4):c.1030C>T (p.R344*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000930866" "0" "50" "17" "61392024" "61392024" "subst" "0" "02325" "TANC2_000039" "g.61392024C>T" "" "" "" "TANC2(NM_025185.4):c.1213C>T (p.P405S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930867" "0" "50" "17" "61396416" "61396416" "subst" "0.000122497" "02325" "TANC2_000040" "g.61396416C>T" "" "" "" "TANC2(NM_025185.4):c.1318C>T (p.(Arg440Trp), p.R440W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930868" "0" "50" "17" "61492965" "61492965" "subst" "0" "02327" "TANC2_000041" "g.61492965A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951006" "0" "70" "17" "61476264" "61476264" "subst" "0" "02329" "TANC2_000042" "g.61476264G>A" "" "" "" "TANC2(NM_025185.4):c.3098G>A (p.W1033*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000951007" "0" "50" "17" "61497953" "61497953" "subst" "3.25651E-5" "02325" "TANC2_000043" "g.61497953G>A" "" "" "" "TANC2(NM_025185.4):c.4610G>A (p.R1537Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951008" "0" "50" "17" "61498336" "61498336" "subst" "0" "02325" "TANC2_000044" "g.61498336G>C" "" "" "" "TANC2(NM_025185.4):c.4993G>C (p.G1665R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000952349" "3" "50" "17" "61417478" "61417478" "subst" "1.21929E-5" "00006" "TANC2_000045" "g.61417478A>G" "" "{PMID:Chatron 2020:32282878}" "" "NM_025185:c.1370A>G" "" "Germline" "" "" "0" "" "" "g.63340117A>G" "" "VUS" "" "0000952362" "3" "50" "17" "61417478" "61417478" "subst" "1.21929E-5" "00006" "TANC2_000045" "g.61417478A>G" "" "{PMID:Chatron 2020:32282878}" "" "NM_025185:c.1370A>G" "" "Germline" "" "" "0" "" "" "g.63340117A>G" "" "VUS" "" "0000969154" "0" "30" "17" "61278267" "61278267" "subst" "0.000178926" "02325" "TANC2_000046" "g.61278267G>T" "" "" "" "TANC2(NM_025185.4):c.496G>T (p.A166S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969155" "0" "50" "17" "61432192" "61432192" "subst" "0" "02325" "TANC2_000047" "g.61432192G>A" "" "" "" "TANC2(NM_025185.4):c.1801G>A (p.E601K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982698" "0" "30" "17" "61315170" "61315171" "del" "0" "01804" "TANC2_000048" "g.61315170_61315171del" "" "" "" "TANC2(NM_025185.4):c.548-5_548-4del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982699" "0" "30" "17" "61396416" "61396416" "subst" "0.000122497" "01804" "TANC2_000040" "g.61396416C>T" "" "" "" "TANC2(NM_025185.4):c.1318C>T (p.(Arg440Trp), p.R440W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003534" "0" "30" "17" "61315298" "61315298" "subst" "1.93332E-5" "01804" "TANC2_000049" "g.61315298G>C" "" "" "" "TANC2(NM_025185.3):c.671G>C (p.(Cys224Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003535" "0" "50" "17" "61345214" "61345214" "subst" "4.0855E-6" "01804" "TANC2_000050" "g.61345214G>T" "" "" "" "TANC2(NM_025185.3):c.917G>T (p.(Arg306Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003536" "0" "50" "17" "61392030" "61392030" "subst" "5.32704E-5" "01804" "TANC2_000051" "g.61392030C>T" "" "" "" "TANC2(NM_025185.3):c.1219C>T (p.(His407Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003537" "0" "50" "17" "61466714" "61466714" "subst" "0" "01804" "TANC2_000052" "g.61466714A>G" "" "" "" "TANC2(NM_025185.3):c.2638A>G (p.(Thr880Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003538" "0" "30" "17" "61473156" "61473156" "subst" "4.88958E-5" "01804" "TANC2_000024" "g.61473156G>A" "" "" "" "TANC2(NM_025185.3):c.2882G>A (p.(Arg961Gln)), TANC2(NM_025185.4):c.2882G>A (p.R961Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003539" "0" "50" "17" "61473191" "61473191" "subst" "0" "01804" "TANC2_000053" "g.61473191T>C" "" "" "" "TANC2(NM_025185.3):c.2917T>C (p.(Cys973Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003540" "0" "30" "17" "61489461" "61489461" "subst" "0" "01804" "TANC2_000054" "g.61489461G>A" "" "" "" "TANC2(NM_025185.3):c.3646G>A (p.(Val1216Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003541" "0" "50" "17" "61492917" "61492917" "subst" "8.12645E-6" "01804" "TANC2_000020" "g.61492917G>A" "" "" "" "TANC2(NM_025185.3):c.3797G>A (p.(Arg1266His)), TANC2(NM_025185.4):c.3797G>A (p.R1266H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003542" "0" "30" "17" "61497497" "61497497" "subst" "6.30668E-6" "01804" "TANC2_000055" "g.61497497C>T" "" "" "" "TANC2(NM_025185.3):c.4154C>T (p.(Pro1385Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003543" "0" "30" "17" "61497748" "61497748" "subst" "4.06894E-6" "01804" "TANC2_000056" "g.61497748C>T" "" "" "" "TANC2(NM_025185.3):c.4405C>T (p.(Arg1469Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003544" "0" "30" "17" "61497940" "61497940" "subst" "4.47504E-5" "01804" "TANC2_000057" "g.61497940C>A" "" "" "" "TANC2(NM_025185.3):c.4597C>A (p.(Pro1533Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003545" "0" "50" "17" "61498019" "61498019" "subst" "0" "02325" "TANC2_000058" "g.61498019G>A" "" "" "" "TANC2(NM_025185.4):c.4676G>A (p.G1559D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003546" "0" "50" "17" "61498073" "61498073" "subst" "0" "01804" "TANC2_000059" "g.61498073C>G" "" "" "" "TANC2(NM_025185.3):c.4730C>G (p.(Pro1577Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003547" "0" "50" "17" "61498178" "61498178" "subst" "2.84479E-5" "01804" "TANC2_000060" "g.61498178T>A" "" "" "" "TANC2(NM_025185.3):c.4835T>A (p.(Ile1612Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003548" "0" "30" "17" "61498207" "61498207" "subst" "4.06233E-6" "01804" "TANC2_000061" "g.61498207G>T" "" "" "" "TANC2(NM_025185.3):c.4864G>T (p.(Val1622Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003549" "0" "50" "17" "61498312" "61498312" "subst" "1.21844E-5" "01804" "TANC2_000062" "g.61498312C>T" "" "" "" "TANC2(NM_025185.3):c.4969C>T (p.(Arg1657Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003550" "0" "30" "17" "61498725" "61498725" "subst" "8.12968E-6" "01804" "TANC2_000063" "g.61498725C>G" "" "" "" "TANC2(NM_025185.3):c.5382C>G (p.(Asn1794Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027029" "0" "50" "17" "61498768" "61498768" "subst" "0" "02325" "TANC2_000064" "g.61498768G>C" "" "" "" "TANC2(NM_025185.4):c.5425G>C (p.E1809Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042062" "0" "30" "17" "61176556" "61176556" "subst" "5.05174E-5" "01804" "TANC2_000065" "g.61176556G>A" "" "" "" "TANC2(NM_025185.4):c.160G>A (p.(Asp54Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042063" "0" "30" "17" "61345106" "61345106" "subst" "0" "01804" "TANC2_000066" "g.61345106C>T" "" "" "" "TANC2(NM_025185.4):c.812-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042064" "0" "50" "17" "61345142" "61345142" "subst" "0" "01804" "TANC2_000067" "g.61345142A>G" "" "" "" "TANC2(NM_025185.4):c.845A>G (p.(Tyr282Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042065" "0" "30" "17" "61417472" "61417472" "subst" "8.13127E-6" "01804" "TANC2_000068" "g.61417472A>G" "" "" "" "TANC2(NM_025185.4):c.1364A>G (p.(Tyr455Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042066" "0" "30" "17" "61489349" "61489349" "subst" "1.22091E-5" "01804" "TANC2_000069" "g.61489349C>T" "" "" "" "TANC2(NM_025185.4):c.3544-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042067" "0" "30" "17" "61489350" "61489350" "subst" "1.62738E-5" "01804" "TANC2_000070" "g.61489350G>A" "" "" "" "TANC2(NM_025185.4):c.3544-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042068" "0" "30" "17" "61505903" "61505903" "subst" "0" "01804" "CYB561_000001" "g.61505903C>T" "" "" "" "TANC2(NM_025185.4):c.*6587C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046661" "0" "30" "17" "61151363" "61151363" "subst" "0.00011659" "02326" "TANC2_000071" "g.61151363C>T" "" "" "" "TANC2(NM_025185.4):c.127C>T (p.R43C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 TANC2 ## Count = 69 "{{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}}" "0000311702" "00020739" "10" "645" "0" "645" "0" "c.645G>A" "r.(?)" "p.(Gln215=)" "" "0000313224" "00020739" "70" "4198" "0" "4198" "0" "c.4198C>T" "r.(?)" "p.(Gln1400Ter)" "" "0000325545" "00020739" "50" "4679" "0" "4679" "0" "c.4679C>T" "r.(?)" "p.(Ser1560Leu)" "" "0000325546" "00020739" "30" "4724" "0" "4724" "0" "c.4724G>T" "r.(?)" "p.(Gly1575Val)" "" "0000325549" "00020739" "50" "5744" "0" "5744" "0" "c.5744T>C" "r.(?)" "p.(Leu1915Pro)" "" "0000339069" "00020739" "70" "4713" "0" "4716" "0" "c.4713_4716del" "r.(?)" "p.(Gln1572PhefsTer41)" "" "0000341628" "00020739" "70" "2781" "0" "2781" "0" "c.2781del" "r.(?)" "p.(Ala928GlnfsTer4)" "" "0000344559" "00020739" "50" "4447" "0" "4447" "0" "c.4447C>T" "r.(?)" "p.(Gln1483Ter)" "" "0000407955" "00020739" "00" "2278" "0" "2278" "0" "c.2278C>T" "r.(?)" "p.(Arg760Cys)" "" "0000562603" "00020739" "50" "5351" "0" "5351" "0" "c.5351C>T" "r.(?)" "p.(Pro1784Leu)" "" "0000658223" "00020739" "70" "2333" "0" "2333" "0" "c.2333A>T" "r.(?)" "p.(Glu778Val)" "" "0000680965" "00020739" "50" "536" "0" "536" "0" "c.536G>C" "r.(?)" "p.(Ser179Thr)" "" "0000726595" "00020739" "50" "1166" "0" "1166" "0" "c.1166A>G" "r.(?)" "p.(His389Arg)" "" "0000726596" "00020739" "50" "3797" "0" "3797" "0" "c.3797G>A" "r.(?)" "p.(Arg1266His)" "" "0000808185" "00020739" "50" "2882" "0" "2882" "0" "c.2882G>A" "r.(?)" "p.(Arg961Gln)" "" "0000808186" "00020739" "30" "3327" "0" "3327" "0" "c.3327C>T" "r.(?)" "p.(Ser1109=)" "" "0000808187" "00020739" "30" "3439" "0" "3439" "0" "c.3439T>C" "r.(?)" "p.(Ser1147Pro)" "" "0000808188" "00020739" "30" "3726" "0" "3726" "0" "c.3726C>T" "r.(?)" "p.(Ile1242=)" "" "0000855040" "00020739" "30" "140" "-20" "140" "-20" "c.140-20G>T" "r.(=)" "p.(=)" "" "0000855041" "00020739" "30" "3327" "0" "3327" "0" "c.3327C>T" "r.(?)" "p.(Ser1109=)" "" "0000894138" "00020739" "50" "49" "0" "49" "0" "c.49C>T" "r.(?)" "p.(Arg17Cys)" "" "0000894139" "00020739" "50" "1166" "0" "1166" "0" "c.1166A>G" "r.(?)" "p.(His389Arg)" "" "0000894140" "00020739" "90" "1795" "0" "1795" "0" "c.1795C>T" "r.(?)" "p.(Arg599*)" "" "0000894141" "00020739" "70" "2416" "0" "2416" "0" "c.2416C>T" "r.(?)" "p.(Arg806*)" "" "0000894142" "00020739" "30" "4684" "0" "4684" "0" "c.4684G>A" "r.(?)" "p.(Val1562Met)" "" "0000894143" "00020739" "50" "5561" "0" "5561" "0" "c.5561G>A" "r.(?)" "p.(Arg1854Gln)" "" "0000914942" "00020739" "50" "2339" "0" "2339" "0" "c.2339C>T" "r.(?)" "p.(Thr780Ile)" "" "0000926615" "00020739" "50" "1675" "0" "1675" "0" "c.1675G>T" "r.(?)" "p.(Val559Leu)" "" "0000926616" "00020739" "50" "4456" "0" "4456" "0" "c.4456T>C" "r.(?)" "p.(Ser1486Pro)" "" "0000926617" "00020739" "50" "5179" "0" "5179" "0" "c.5179C>T" "r.(?)" "p.(Pro1727Ser)" "" "0000930865" "00020739" "70" "1030" "0" "1030" "0" "c.1030C>T" "r.(?)" "p.(Arg344*)" "" "0000930866" "00020739" "50" "1213" "0" "1213" "0" "c.1213C>T" "r.(?)" "p.(Pro405Ser)" "" "0000930867" "00020739" "50" "1318" "0" "1318" "0" "c.1318C>T" "r.(?)" "p.(Arg440Trp)" "" "0000930868" "00020739" "50" "3845" "0" "3845" "0" "c.3845A>G" "r.(?)" "p.(Asp1282Gly)" "" "0000951006" "00020739" "70" "3098" "0" "3098" "0" "c.3098G>A" "r.(?)" "p.(Trp1033*)" "" "0000951007" "00020739" "50" "4610" "0" "4610" "0" "c.4610G>A" "r.(?)" "p.(Arg1537Gln)" "" "0000951008" "00020739" "50" "4993" "0" "4993" "0" "c.4993G>C" "r.(?)" "p.(Gly1665Arg)" "" "0000952349" "00020739" "50" "1370" "0" "1370" "0" "c.1370A>G" "r.(?)" "p.(Tyr457Cys)" "" "0000952362" "00020739" "50" "1370" "0" "1370" "0" "c.1370A>G" "r.(?)" "p.(Tyr457Cys)" "" "0000969154" "00020739" "30" "496" "0" "496" "0" "c.496G>T" "r.(?)" "p.(Ala166Ser)" "" "0000969155" "00020739" "50" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Glu601Lys)" "" "0000982698" "00020739" "30" "548" "-5" "548" "-4" "c.548-5_548-4del" "r.spl?" "p.?" "" "0000982699" "00020739" "30" "1318" "0" "1318" "0" "c.1318C>T" "r.(?)" "p.(Arg440Trp)" "" "0001003534" "00020739" "30" "671" "0" "671" "0" "c.671G>C" "r.(?)" "p.(Cys224Ser)" "" "0001003535" "00020739" "50" "917" "0" "917" "0" "c.917G>T" "r.(?)" "p.(Arg306Leu)" "" "0001003536" "00020739" "50" "1219" "0" "1219" "0" "c.1219C>T" "r.(?)" "p.(His407Tyr)" "" "0001003537" "00020739" "50" "2638" "0" "2638" "0" "c.2638A>G" "r.(?)" "p.(Thr880Ala)" "" "0001003538" "00020739" "30" "2882" "0" "2882" "0" "c.2882G>A" "r.(?)" "p.(Arg961Gln)" "" "0001003539" "00020739" "50" "2917" "0" "2917" "0" "c.2917T>C" "r.(?)" "p.(Cys973Arg)" "" "0001003540" "00020739" "30" "3646" "0" "3646" "0" "c.3646G>A" "r.(?)" "p.(Val1216Ile)" "" "0001003541" "00020739" "50" "3797" "0" "3797" "0" "c.3797G>A" "r.(?)" "p.(Arg1266His)" "" "0001003542" "00020739" "30" "4154" "0" "4154" "0" "c.4154C>T" "r.(?)" "p.(Pro1385Leu)" "" "0001003543" "00020739" "30" "4405" "0" "4405" "0" "c.4405C>T" "r.(?)" "p.(Arg1469Trp)" "" "0001003544" "00020739" "30" "4597" "0" "4597" "0" "c.4597C>A" "r.(?)" "p.(Pro1533Thr)" "" "0001003545" "00020739" "50" "4676" "0" "4676" "0" "c.4676G>A" "r.(?)" "p.(Gly1559Asp)" "" "0001003546" "00020739" "50" "4730" "0" "4730" "0" "c.4730C>G" "r.(?)" "p.(Pro1577Arg)" "" "0001003547" "00020739" "50" "4835" "0" "4835" "0" "c.4835T>A" "r.(?)" "p.(Ile1612Asn)" "" "0001003548" "00020739" "30" "4864" "0" "4864" "0" "c.4864G>T" "r.(?)" "p.(Val1622Phe)" "" "0001003549" "00020739" "50" "4969" "0" "4969" "0" "c.4969C>T" "r.(?)" "p.(Arg1657Trp)" "" "0001003550" "00020739" "30" "5382" "0" "5382" "0" "c.5382C>G" "r.(?)" "p.(Asn1794Lys)" "" "0001027029" "00020739" "50" "5425" "0" "5425" "0" "c.5425G>C" "r.(?)" "p.(Glu1809Gln)" "" "0001042062" "00020739" "30" "160" "0" "160" "0" "c.160G>A" "r.(?)" "p.(Asp54Asn)" "" "0001042063" "00020739" "30" "812" "-3" "812" "-3" "c.812-3C>T" "r.spl?" "p.?" "" "0001042064" "00020739" "50" "845" "0" "845" "0" "c.845A>G" "r.(?)" "p.(Tyr282Cys)" "" "0001042065" "00020739" "30" "1364" "0" "1364" "0" "c.1364A>G" "r.(?)" "p.(Tyr455Cys)" "" "0001042066" "00020739" "30" "3544" "-10" "3544" "-10" "c.3544-10C>T" "r.(=)" "p.(=)" "" "0001042067" "00020739" "30" "3544" "-9" "3544" "-9" "c.3544-9G>A" "r.(=)" "p.(=)" "" "0001042068" "00020739" "30" "12560" "0" "12560" "0" "c.*6587C>T" "r.(=)" "p.(=)" "" "0001046661" "00020739" "30" "127" "0" "127" "0" "c.127C>T" "r.(?)" "p.(Arg43Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000184017" "0000407955" "0000445376" "0000952349" "0000445377" "0000952362"