### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CUX2) # 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}}" "CUX2" "cut-like homeobox 2" "12" "q24.12" "unknown" "NG_023039.1" "UD_132118606428" "" "https://www.LOVD.nl/CUX2" "" "1" "19347" "23316" "610648" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/CUX2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-03-17 16:00:35" "00000" "2026-01-20 18:57:21" ## 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}}" "00005903" "CUX2" "cut-like homeobox 2" "001" "NM_015267.3" "" "NP_056082.2" "" "" "" "-154" "6690" "4461" "111471828" "111788358" "" "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" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06187" "EIEE67" "Epileptic encephalopathy, early infantile, 67" "AD" "618141" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CUX2" "06187" ## 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}}" "00154932" "" "" "" "1" "" "02457" "" "" "F" "no" "Denmark" "" "0" "" "" "" "" "00380400" "" "" "" "1" "" "00006" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "" "" "Australia" "" "0" "" "" "" "Pat5" "00427665" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "202469" "00433665" "" "" "" "1" "" "03544" "" "" "" "" "" "" "" "" "" "" "" "00438372" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat90" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00154932" "00139" "00154932" "04270" "00380400" "05611" "00427665" "06187" "00433665" "06906" "00438372" "04270" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 04270, 05611, 06187, 06906 ## Count = 5 "{{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}}" "0000127743" "00139" "00154932" "02457" "Isolated (sporadic)" "17y" "pregnancy uneventful; moderate intellectual disability (HP:0002342); moderate global developmental delay (HP:0011343); severe speech delay (HP:0000750)" "00y06m" "" "Developmental delay" "" "" "" "" "Intellectual disability, autism, seizures" "Developmental delay" "0000274250" "05611" "00380400" "00006" "Isolated (sporadic)" "23m" "global developmental delays; speech impaired; motor impaired; no dysmorphic features; no behavioral deficits; GI/feeding abnormalities; ophthalmologic abnormalities; hypotonia muscle; movement/neurological disorder; no seizures; microcephaly; MRI brain abnormalities" "3m" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000318680" "06187" "00427665" "01164" "Unknown" "00y08m" "Talipes equinovarus, Neonatal seizure, Neonatal hypotonia, Temperature instability" "" "" "" "" "" "" "" "" "" "0000324088" "06906" "00433665" "03544" "Familial, autosomal dominant" "" "mild intellectual disability, autism, speech delay, hyperactivity" "" "" "" "" "" "" "" "" "" "0000328276" "04270" "00438372" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures" "1y" "" "" "" "" "" "" "" "epilepsy" ## 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}}" "0000155790" "00154932" "1" "02457" "" "2018-03-03 20:27:32" "00006" "2018-06-01 15:00:40" "SEQ-NG-IT" "DNA" "" "" "0000381614" "00380400" "1" "00006" "00006" "2021-08-16 13:20:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000428986" "00427665" "1" "01164" "01164" "2022-12-09 14:23:59" "" "" "SEQ-NG-I" "DNA" "" "" "0000435123" "00433665" "1" "03544" "03544" "2023-03-12 20:29:50" "" "" "SEQ-NG-I" "DNA" "" "" "0000439854" "00438372" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000428986" "CUX2" ## 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 = 75 "{{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}}" "0000267226" "0" "10" "12" "111786082" "111786082" "subst" "0.999996" "02325" "CUX2_000002" "g.111786082G>C" "" "" "" "CUX2(NM_015267.4):c.4414G>C (p.V1472L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111348278G>C" "" "benign" "" "0000345492" "0" "70" "12" "111748354" "111748354" "subst" "0" "02327" "CUX2_000003" "g.111748354G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.111310550G>A" "" "likely pathogenic" "" "0000355572" "0" "70" "12" "111748354" "111748354" "subst" "0" "02457" "CUX2_000003" "g.111748354G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.111310550G>A" "" "likely pathogenic" "" "0000546566" "0" "10" "12" "111651994" "111651994" "dup" "0.0093046" "01943" "CUX2_000004" "g.111651994dup" "" "" "" "CUX2(NM_015267.3):c.64-10dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111214190dup" "" "benign" "" "0000546573" "0" "70" "12" "111757932" "111757932" "subst" "0" "02327" "CUX2_000006" "g.111757932C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111320128C>T" "" "likely pathogenic" "" "0000546574" "0" "50" "12" "111758472" "111758472" "subst" "0" "02327" "CUX2_000007" "g.111758472C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111320668C>T" "" "VUS" "" "0000546577" "0" "30" "12" "111785426" "111785426" "subst" "0" "01804" "CUX2_000010" "g.111785426A>C" "" "" "" "CUX2(NM_015267.3):c.3758A>C (p.(His1253Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111347622A>C" "" "likely benign" "" "0000546578" "0" "30" "12" "111785430" "111785432" "del" "0" "01804" "CUX2_000011" "g.111785430_111785432del" "" "" "" "CUX2(NM_015267.3):c.3762_3764del (p.(Asp1255del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111347626_111347628del" "" "likely benign" "" "0000546580" "0" "30" "12" "111785431" "111785432" "del" "0" "01804" "CUX2_000013" "g.111785431_111785432del" "" "" "" "CUX2(NM_015267.3):c.3762_3763del (p.(Asp1255ProfsTer7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111347627_111347628del" "" "likely benign" "" "0000546581" "0" "30" "12" "111785432" "111785432" "subst" "0" "01804" "CUX2_000014" "g.111785432A>C" "" "" "" "CUX2(NM_015267.3):c.3764A>C (p.(Asp1255Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111347628A>C" "" "likely benign" "" "0000546582" "0" "30" "12" "111785437" "111785437" "subst" "0" "01804" "CUX2_000015" "g.111785437A>C" "" "" "" "CUX2(NM_015267.3):c.3769A>C (p.(Thr1257Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111347633A>C" "" "likely benign" "" "0000613854" "0" "30" "12" "111772241" "111772241" "subst" "0" "01804" "CUX2_000016" "g.111772241A>G" "" "" "" "CUX2(NM_015267.3):c.2927-4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111334437A>G" "" "likely benign" "" "0000613855" "0" "30" "12" "111772286" "111772286" "subst" "0.000332283" "01804" "CUX2_000017" "g.111772286A>C" "" "" "" "CUX2(NM_015267.3):c.2968A>C (p.(Ser990Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111334482A>C" "" "likely benign" "" "0000613856" "0" "30" "12" "111772287" "111772287" "subst" "0" "01804" "CUX2_000018" "g.111772287G>C" "" "" "" "CUX2(NM_015267.3):c.2969G>C (p.(Ser990Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111334483G>C" "" "likely benign" "" "0000613857" "0" "30" "12" "111785422" "111785423" "ins" "0" "01804" "CUX2_000019" "g.111785422_111785423insGC" "" "" "" "CUX2(NM_015267.3):c.3754_3755insGC (p.(Ser1252Cysfs*22))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111347618_111347619insGC" "" "likely benign" "" "0000613858" "0" "30" "12" "111785422" "111785423" "ins" "0" "01804" "CUX2_000020" "g.111785422_111785423insGCC" "" "" "" "CUX2(NM_015267.3):c.3754_3755insGCC (p.(Ser1252delinsCysPro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111347618_111347619insGCC" "" "likely benign" "" "0000656983" "0" "30" "12" "111746287" "111746287" "subst" "4.48244E-5" "01943" "CUX2_000021" "g.111746287G>A" "" "" "" "CUX2(NM_015267.3):c.1215G>A (p.T405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111308483G>A" "" "likely benign" "" "0000656984" "0" "50" "12" "111776131" "111776131" "subst" "0" "02327" "CUX2_000022" "g.111776131G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.111338327G>A" "" "VUS" "" "0000723831" "0" "30" "12" "111729241" "111729241" "subst" "2.06323E-5" "01943" "CUX2_000023" "g.111729241G>A" "" "" "" "CUX2(NM_015267.3):c.321G>A (p.E107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723832" "0" "50" "12" "111772285" "111772285" "del" "0" "02325" "CUX2_000024" "g.111772285del" "" "" "" "CUX2(NM_015267.4):c.2967delC (p.S990Afs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000795110" "0" "50" "12" "111785426" "111785426" "subst" "0" "00006" "CUX2_000010" "g.111785426A>C" "" "{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000805526" "0" "30" "12" "111729274" "111729274" "subst" "0.000705954" "02326" "CUX2_000025" "g.111729274C>T" "" "" "" "CUX2(NM_015267.4):c.354C>T (p.P118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805527" "0" "50" "12" "111734289" "111734289" "subst" "0" "02325" "CUX2_000026" "g.111734289C>T" "" "" "" "CUX2(NM_015267.4):c.650C>T (p.T217M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853261" "0" "30" "12" "111744895" "111744895" "subst" "0.00202491" "02326" "CUX2_000027" "g.111744895G>A" "" "" "" "CUX2(NM_015267.4):c.1029G>A (p.(Thr343=), p.T343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853262" "0" "30" "12" "111749947" "111749947" "subst" "0.00201183" "02326" "CUX2_000028" "g.111749947C>T" "" "" "" "CUX2(NM_015267.4):c.1944C>T (p.D648=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862802" "0" "50" "12" "111779638" "111779638" "subst" "8.17635E-6" "01943" "CUX2_000029" "g.111779638C>T" "" "" "" "CUX2(NM_015267.3):c.3440C>T (p.P1147L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862803" "0" "30" "12" "111785639" "111785639" "subst" "1.21894E-5" "01943" "CUX2_000030" "g.111785639G>T" "" "" "" "CUX2(NM_015267.3):c.3971G>T (p.G1324V, p.(Gly1324Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890273" "0" "30" "12" "111746279" "111746281" "del" "0" "02325" "CUX2_000031" "g.111746279_111746281del" "" "" "" "CUX2(NM_015267.4):c.1207_1209delTTC (p.F403del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000908393" "0" "50" "12" "111757914" "111757914" "subst" "0" "01164" "CUX2_000032" "g.111757914C>A" "" "" "" "" "ACMG: PS2_MOD, PM2_SUP, PP2, confirmed de novo in trio-exome" "De novo" "-" "" "0" "" "" "g.111320110C>A" "" "VUS" "ACMG" "0000908977" "0" "50" "12" "111785954" "111785954" "dup" "0" "03779" "CUX2_000033" "g.111785954dup" "" "" "" "" "" "Unknown" "" "rs750550645" "0" "" "" "" "" "VUS" "" "0000913745" "0" "30" "12" "111746279" "111746281" "del" "0" "02326" "CUX2_000031" "g.111746279_111746281del" "" "" "" "CUX2(NM_015267.4):c.1207_1209delTTC (p.F403del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000921061" "21" "70" "12" "111772383" "111772383" "subst" "0" "03544" "CUX2_000034" "g.111772383C>A" "" "" "" "" "inherited from mother with transient epilepsy (early-onset), mild learning disability (speech disorder)" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (maternal)" "ACMG" "0000925538" "0" "30" "12" "111748382" "111748382" "subst" "0.000118016" "02325" "CUX2_000035" "g.111748382G>A" "" "" "" "CUX2(NM_015267.4):c.1796G>A (p.R599H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925539" "0" "50" "12" "111749951" "111749951" "subst" "0" "02325" "CUX2_000036" "g.111749951G>A" "" "" "" "CUX2(NM_015267.4):c.1948G>A (p.A650T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925540" "0" "30" "12" "111772259" "111772259" "subst" "0.000364274" "02325" "CUX2_000037" "g.111772259C>T" "" "" "" "CUX2(NM_015267.4):c.2941C>T (p.P981S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930009" "0" "50" "12" "111758426" "111758426" "subst" "0" "02327" "CUX2_000038" "g.111758426C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930010" "0" "30" "12" "111772320" "111772320" "subst" "8.13187E-5" "02325" "CUX2_000039" "g.111772320C>T" "" "" "" "CUX2(NM_015267.4):c.3002C>T (p.P1001L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000935983" "0" "70" "12" "111749928" "111749928" "subst" "2.85498E-5" "00006" "CUX2_000040" "g.111749928C>T" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PM1,PM2,PP3,PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.111312124C>T" "" "likely pathogenic (dominant)" "ACMG" "0000979994" "0" "30" "12" "111731376" "111731376" "subst" "0.00122073" "01804" "CUX2_000041" "g.111731376G>A" "" "" "" "CUX2(NM_015267.4):c.560+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979995" "0" "30" "12" "111744895" "111744895" "subst" "0.00202491" "01804" "CUX2_000027" "g.111744895G>A" "" "" "" "CUX2(NM_015267.4):c.1029G>A (p.(Thr343=), p.T343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979996" "0" "50" "12" "111748250" "111748250" "subst" "4.09112E-6" "01804" "CUX2_000042" "g.111748250C>T" "" "" "" "CUX2(NM_015267.4):c.1664C>T (p.(Thr555Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979997" "0" "50" "12" "111758314" "111758314" "subst" "2.04021E-5" "01804" "CUX2_000043" "g.111758314C>G" "" "" "" "CUX2(NM_015267.3):c.2501C>G (p.(Pro834Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979998" "0" "30" "12" "111760221" "111760221" "subst" "0" "02325" "CUX2_000044" "g.111760221G>A" "" "" "" "CUX2(NM_015267.4):c.2767-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979999" "0" "30" "12" "111779832" "111779832" "subst" "2.04263E-5" "02325" "CUX2_000045" "g.111779832G>A" "" "" "" "CUX2(NM_015267.4):c.3634G>A (p.V1212I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999612" "0" "30" "12" "111471994" "111471994" "subst" "3.08218E-5" "01804" "CUX2_000046" "g.111471994G>A" "" "" "" "CUX2(NM_015267.3):c.13G>A (p.(Val5Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999613" "0" "30" "12" "111652019" "111652019" "subst" "1.49337E-5" "01804" "CUX2_000047" "g.111652019G>A" "" "" "" "CUX2(NM_015267.3):c.79G>A (p.(Val27Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999614" "0" "50" "12" "111652086" "111652086" "subst" "0" "01804" "CUX2_000048" "g.111652086G>A" "" "" "" "CUX2(NM_015267.3):c.146G>A (p.(Arg49His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999615" "0" "30" "12" "111652089" "111652089" "subst" "3.31892E-5" "01804" "CUX2_000049" "g.111652089G>A" "" "" "" "CUX2(NM_015267.3):c.149G>A (p.(Arg50Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999616" "0" "50" "12" "111701615" "111701615" "subst" "0" "01804" "CUX2_000050" "g.111701615T>G" "" "" "" "CUX2(NM_015267.3):c.273T>G (p.(Ser91Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999617" "0" "30" "12" "111734277" "111734277" "subst" "0" "01804" "CUX2_000051" "g.111734277C>T" "" "" "" "CUX2(NM_015267.3):c.638C>T (p.(Ala213Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999618" "0" "30" "12" "111748093" "111748093" "subst" "4.71485E-5" "01804" "CUX2_000052" "g.111748093G>A" "" "" "" "CUX2(NM_015267.3):c.1507G>A (p.(Gly503Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999619" "0" "30" "12" "111757888" "111757888" "subst" "0" "01804" "CUX2_000053" "g.111757888C>A" "" "" "" "CUX2(NM_015267.3):c.2075C>A (p.(Ala692Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999620" "0" "30" "12" "111758280" "111758280" "subst" "4.61114E-5" "01804" "CUX2_000054" "g.111758280G>A" "" "" "" "CUX2(NM_015267.3):c.2467G>A (p.(Ala823Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999621" "0" "50" "12" "111758354" "111758354" "del" "0" "01804" "CUX2_000055" "g.111758354del" "" "" "" "CUX2(NM_015267.3):c.2541delC (p.(Arg848fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999622" "0" "30" "12" "111772509" "111772509" "subst" "4.20412E-6" "01804" "CUX2_000056" "g.111772509A>G" "" "" "" "CUX2(NM_015267.3):c.3191A>G (p.(Asn1064Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999623" "0" "50" "12" "111785370" "111785370" "subst" "4.13715E-6" "01804" "CUX2_000057" "g.111785370T>G" "" "" "" "CUX2(NM_015267.3):c.3702T>G (p.(Asp1234Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999624" "0" "30" "12" "111785437" "111785437" "del" "0" "01804" "CUX2_000058" "g.111785437del" "" "" "" "CUX2(NM_015267.3):c.3769delA (p.(Thr1257fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999625" "0" "30" "12" "111785587" "111785587" "subst" "2.0316E-5" "01804" "CUX2_000059" "g.111785587G>A" "" "" "" "CUX2(NM_015267.3):c.3919G>A (p.(Ala1307Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999626" "0" "30" "12" "111785639" "111785639" "subst" "1.21894E-5" "01804" "CUX2_000030" "g.111785639G>T" "" "" "" "CUX2(NM_015267.3):c.3971G>T (p.G1324V, p.(Gly1324Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999627" "0" "50" "12" "111785783" "111785783" "subst" "8.12466E-6" "01804" "CUX2_000060" "g.111785783G>A" "" "" "" "CUX2(NM_015267.3):c.4115G>A (p.(Arg1372Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999628" "0" "30" "12" "111785837" "111785837" "subst" "8.12341E-6" "01804" "CUX2_000061" "g.111785837G>T" "" "" "" "CUX2(NM_015267.3):c.4169G>T (p.(Ser1390Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999629" "0" "50" "12" "111785894" "111785894" "subst" "0" "01804" "CUX2_000062" "g.111785894C>T" "" "" "" "CUX2(NM_015267.3):c.4226C>T (p.(Ser1409Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026098" "0" "50" "12" "111748269" "111748269" "subst" "4.07697E-6" "02325" "CUX2_000063" "g.111748269G>C" "" "" "" "CUX2(NM_015267.4):c.1683G>C (p.Q561H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026099" "0" "30" "12" "111757851" "111757851" "subst" "0" "02326" "CUX2_000064" "g.111757851G>A" "" "" "" "CUX2(NM_015267.4):c.2038G>A (p.A680T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038939" "0" "30" "12" "111538200" "111538200" "subst" "0" "01804" "CUX2_000065" "g.111538200A>G" "" "" "" "CUX2(NM_015267.4):c.63+66156A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038940" "0" "30" "12" "111652019" "111652019" "subst" "0.000303652" "02325" "CUX2_000066" "g.111652019G>T" "" "" "" "CUX2(NM_015267.4):c.79G>T (p.V27F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038941" "0" "30" "12" "111758270" "111758270" "subst" "0.000118406" "02326" "CUX2_000067" "g.111758270C>A" "" "" "" "CUX2(NM_015267.4):c.2457C>A (p.P819=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038942" "0" "30" "12" "111758326" "111758326" "subst" "0" "01804" "CUX2_000068" "g.111758326C>T" "" "" "" "CUX2(NM_015267.4):c.2513C>T (p.(Ala838Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038943" "0" "30" "12" "111772971" "111772971" "subst" "0" "01804" "CUX2_000069" "g.111772971G>T" "" "" "" "CUX2(NM_015267.4):c.3196+457G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038944" "0" "30" "12" "111785322" "111785322" "subst" "4.16505E-5" "01804" "CUX2_000070" "g.111785322C>T" "" "" "" "CUX2(NM_015267.4):c.3660-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054488" "0" "30" "12" "111731300" "111731300" "subst" "0.000547861" "01804" "CUX2_000071" "g.111731300C>T" "" "" "" "CUX2(NM_015267.4):c.487C>T (p.(Arg163Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054489" "0" "50" "12" "111785497" "111785497" "subst" "4.06445E-6" "01804" "CUX2_000072" "g.111785497C>G" "" "" "" "CUX2(NM_015267.4):c.3829C>G (p.(Leu1277Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054490" "0" "50" "12" "111786101" "111786101" "subst" "8.32709E-6" "01804" "CUX2_000073" "g.111786101G>A" "" "" "" "CUX2(NM_015267.4):c.4433G>A (p.(Arg1478Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065821" "0" "50" "12" "111471992" "111471992" "subst" "0" "01804" "CUX2_000074" "g.111471992A>G" "" "" "" "CUX2(NM_015267.4):c.11A>G (p.(Asn4Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065822" "0" "50" "12" "111772449" "111772449" "subst" "4.0709E-6" "02325" "CUX2_000075" "g.111772449C>T" "" "" "" "" "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 CUX2 ## Count = 75 "{{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}}" "0000267226" "00005903" "10" "4414" "0" "4414" "0" "c.4414G>C" "r.(?)" "p.(Val1472Leu)" "" "0000345492" "00005903" "70" "1768" "0" "1768" "0" "c.1768G>A" "r.(?)" "p.(Glu590Lys)" "" "0000355572" "00005903" "70" "1768" "0" "1768" "0" "c.1768G>A" "r.(?)" "p.(Glu590Lys)" "15" "0000546566" "00005903" "10" "64" "-10" "64" "-10" "c.64-10dup" "r.(=)" "p.(=)" "" "0000546573" "00005903" "70" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Gln707Ter)" "" "0000546574" "00005903" "50" "2659" "0" "2659" "0" "c.2659C>T" "r.(?)" "p.(Gln887Ter)" "" "0000546577" "00005903" "30" "3758" "0" "3758" "0" "c.3758A>C" "r.(?)" "p.(His1253Pro)" "" "0000546578" "00005903" "30" "3762" "0" "3764" "0" "c.3762_3764del" "r.(?)" "p.(Asp1255del)" "" "0000546580" "00005903" "30" "3763" "0" "3764" "0" "c.3763_3764del" "r.(?)" "p.(Asp1255ProfsTer7)" "" "0000546581" "00005903" "30" "3764" "0" "3764" "0" "c.3764A>C" "r.(?)" "p.(Asp1255Ala)" "" "0000546582" "00005903" "30" "3769" "0" "3769" "0" "c.3769A>C" "r.(?)" "p.(Thr1257Pro)" "" "0000613854" "00005903" "30" "2927" "-4" "2927" "-4" "c.2927-4A>G" "r.spl?" "p.?" "" "0000613855" "00005903" "30" "2968" "0" "2968" "0" "c.2968A>C" "r.(?)" "p.(Ser990Arg)" "" "0000613856" "00005903" "30" "2969" "0" "2969" "0" "c.2969G>C" "r.(?)" "p.(Ser990Thr)" "" "0000613857" "00005903" "30" "3754" "0" "3755" "0" "c.3754_3755insGC" "r.(?)" "p.(Ser1252CysfsTer22)" "" "0000613858" "00005903" "30" "3754" "0" "3755" "0" "c.3754_3755insGCC" "r.(?)" "p.(Ser1252delinsCysPro)" "" "0000656983" "00005903" "30" "1215" "0" "1215" "0" "c.1215G>A" "r.(?)" "p.(Thr405=)" "" "0000656984" "00005903" "50" "3238" "0" "3238" "0" "c.3238G>A" "r.(?)" "p.(Gly1080Ser)" "" "0000723831" "00005903" "30" "321" "0" "321" "0" "c.321G>A" "r.(?)" "p.(Glu107=)" "" "0000723832" "00005903" "50" "2967" "0" "2967" "0" "c.2967del" "r.(?)" "p.(Ser990Alafs*13)" "" "0000795110" "00005903" "50" "3758" "0" "3758" "0" "c.3758A>C" "r.(?)" "p.(His1253Pro)" "" "0000805526" "00005903" "30" "354" "0" "354" "0" "c.354C>T" "r.(?)" "p.(Pro118=)" "" "0000805527" "00005903" "50" "650" "0" "650" "0" "c.650C>T" "r.(?)" "p.(Thr217Met)" "" "0000853261" "00005903" "30" "1029" "0" "1029" "0" "c.1029G>A" "r.(?)" "p.(Thr343=)" "" "0000853262" "00005903" "30" "1944" "0" "1944" "0" "c.1944C>T" "r.(?)" "p.(Asp648=)" "" "0000862802" "00005903" "50" "3440" "0" "3440" "0" "c.3440C>T" "r.(?)" "p.(Pro1147Leu)" "" "0000862803" "00005903" "30" "3971" "0" "3971" "0" "c.3971G>T" "r.(?)" "p.(Gly1324Val)" "" "0000890273" "00005903" "30" "1207" "0" "1209" "0" "c.1207_1209del" "r.(?)" "p.(Phe403del)" "" "0000908393" "00005903" "50" "2101" "0" "2101" "0" "c.2101C>A" "r.(?)" "p.(Arg701Ser)" "" "0000908977" "00005903" "50" "4286" "0" "4286" "0" "c.4286dup" "r.(?)" "p.(Ala1430CysfsTer11)" "" "0000913745" "00005903" "30" "1207" "0" "1209" "0" "c.1207_1209del" "r.(?)" "p.(Phe403del)" "" "0000921061" "00005903" "70" "3065" "0" "3065" "0" "c.3065C>A" "r.(?)" "p.(Ser1022*)" "" "0000925538" "00005903" "30" "1796" "0" "1796" "0" "c.1796G>A" "r.(?)" "p.(Arg599His)" "" "0000925539" "00005903" "50" "1948" "0" "1948" "0" "c.1948G>A" "r.(?)" "p.(Ala650Thr)" "" "0000925540" "00005903" "30" "2941" "0" "2941" "0" "c.2941C>T" "r.(?)" "p.(Pro981Ser)" "" "0000930009" "00005903" "50" "2613" "0" "2613" "0" "c.2613C>A" "r.(?)" "p.(Tyr871*)" "" "0000930010" "00005903" "30" "3002" "0" "3002" "0" "c.3002C>T" "r.(?)" "p.(Pro1001Leu)" "" "0000935983" "00005903" "70" "1925" "0" "1925" "0" "c.1925C>T" "r.(?)" "p.(Thr642Met)" "" "0000979994" "00005903" "30" "560" "3" "560" "3" "c.560+3G>A" "r.spl?" "p.?" "" "0000979995" "00005903" "30" "1029" "0" "1029" "0" "c.1029G>A" "r.(?)" "p.(Thr343=)" "" "0000979996" "00005903" "50" "1664" "0" "1664" "0" "c.1664C>T" "r.(?)" "p.(Thr555Met)" "" "0000979997" "00005903" "50" "2501" "0" "2501" "0" "c.2501C>G" "r.(?)" "p.(Pro834Arg)" "" "0000979998" "00005903" "30" "2767" "-4" "2767" "-4" "c.2767-4G>A" "r.spl?" "p.?" "" "0000979999" "00005903" "30" "3634" "0" "3634" "0" "c.3634G>A" "r.(?)" "p.(Val1212Ile)" "" "0000999612" "00005903" "30" "13" "0" "13" "0" "c.13G>A" "r.(?)" "p.(Val5Met)" "" "0000999613" "00005903" "30" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Val27Ile)" "" "0000999614" "00005903" "50" "146" "0" "146" "0" "c.146G>A" "r.(?)" "p.(Arg49His)" "" "0000999615" "00005903" "30" "149" "0" "149" "0" "c.149G>A" "r.(?)" "p.(Arg50Gln)" "" "0000999616" "00005903" "50" "273" "0" "273" "0" "c.273T>G" "r.(?)" "p.(Ser91Arg)" "" "0000999617" "00005903" "30" "638" "0" "638" "0" "c.638C>T" "r.(?)" "p.(Ala213Val)" "" "0000999618" "00005903" "30" "1507" "0" "1507" "0" "c.1507G>A" "r.(?)" "p.(Gly503Ser)" "" "0000999619" "00005903" "30" "2075" "0" "2075" "0" "c.2075C>A" "r.(?)" "p.(Ala692Asp)" "" "0000999620" "00005903" "30" "2467" "0" "2467" "0" "c.2467G>A" "r.(?)" "p.(Ala823Thr)" "" "0000999621" "00005903" "50" "2541" "0" "2541" "0" "c.2541del" "r.(?)" "p.(Arg848Glyfs*29)" "" "0000999622" "00005903" "30" "3191" "0" "3191" "0" "c.3191A>G" "r.(?)" "p.(Asn1064Ser)" "" "0000999623" "00005903" "50" "3702" "0" "3702" "0" "c.3702T>G" "r.(?)" "p.(Asp1234Glu)" "" "0000999624" "00005903" "30" "3769" "0" "3769" "0" "c.3769del" "r.(?)" "p.(Thr1257Profs*16)" "" "0000999625" "00005903" "30" "3919" "0" "3919" "0" "c.3919G>A" "r.(?)" "p.(Ala1307Thr)" "" "0000999626" "00005903" "30" "3971" "0" "3971" "0" "c.3971G>T" "r.(?)" "p.(Gly1324Val)" "" "0000999627" "00005903" "50" "4115" "0" "4115" "0" "c.4115G>A" "r.(?)" "p.(Arg1372Gln)" "" "0000999628" "00005903" "30" "4169" "0" "4169" "0" "c.4169G>T" "r.(?)" "p.(Ser1390Ile)" "" "0000999629" "00005903" "50" "4226" "0" "4226" "0" "c.4226C>T" "r.(?)" "p.(Ser1409Phe)" "" "0001026098" "00005903" "50" "1683" "0" "1683" "0" "c.1683G>C" "r.(?)" "p.(Gln561His)" "" "0001026099" "00005903" "30" "2038" "0" "2038" "0" "c.2038G>A" "r.(?)" "p.(Ala680Thr)" "" "0001038939" "00005903" "30" "63" "66156" "63" "66156" "c.63+66156A>G" "r.(=)" "p.(=)" "" "0001038940" "00005903" "30" "79" "0" "79" "0" "c.79G>T" "r.(?)" "p.(Val27Phe)" "" "0001038941" "00005903" "30" "2457" "0" "2457" "0" "c.2457C>A" "r.(?)" "p.(=)" "" "0001038942" "00005903" "30" "2513" "0" "2513" "0" "c.2513C>T" "r.(?)" "p.(Ala838Val)" "" "0001038943" "00005903" "30" "3196" "457" "3196" "457" "c.3196+457G>T" "r.(=)" "p.(=)" "" "0001038944" "00005903" "30" "3660" "-6" "3660" "-6" "c.3660-6C>T" "r.(=)" "p.(=)" "" "0001054488" "00005903" "30" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Arg163Cys)" "" "0001054489" "00005903" "50" "3829" "0" "3829" "0" "c.3829C>G" "r.(?)" "p.(Leu1277Val)" "" "0001054490" "00005903" "50" "4433" "0" "4433" "0" "c.4433G>A" "r.(?)" "p.(Arg1478Gln)" "" "0001065821" "00005903" "50" "11" "0" "11" "0" "c.11A>G" "r.(?)" "p.(Asn4Ser)" "" "0001065822" "00005903" "50" "3131" "0" "3131" "0" "c.3131C>T" "r.(?)" "p.(Ser1044Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000155790" "0000355572" "0000381614" "0000795110" "0000428986" "0000908393" "0000435123" "0000921061" "0000439854" "0000935983"