### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CUL3) # 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}}" "CUL3" "cullin 3" "2" "q36.2" "unknown" "NG_032169.1" "UD_134408528014" "" "https://www.LOVD.nl/CUL3" "" "1" "2553" "8452" "603136" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-10-11 16:32:46" "00000" "2026-02-11 14:09:04" ## 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}}" "00025468" "CUL3" "transcript variant 1" "002" "NM_003590.4" "" "NP_003581.1" "" "" "" "-388" "6402" "2307" "225450114" "225334867" "00006" "2019-10-11 16:31:58" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03669" "PHA2E" "pseudohypoaldosteronism type 2E (PHA2E)" "AD" "614496" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-08-06 18:44:59" "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" "05962" "NEDAUS" "neurodevelopmental disorder with/without autism or seizures" "AD" "619239" "" "" "" "00006" "2021-08-06 18:44:10" "00006" "2024-12-11 11:24:27" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CUL3" "03669" "CUL3" "05962" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00265870" "" "" "" "1" "" "02396" "{PMID:Nakashima 2020:32341456}" "" "F" "no" "Japan" "" "0" "" "" "" "" "00265878" "" "" "" "1" "" "02396" "{PMID:Nakashima 2020:32341456}" "" "M" "no" "Malaysia" "" "0" "" "" "" "" "00265879" "" "" "" "1" "" "02396" "{PMID:Nakashima 2020:32341456}" "" "F" "no" "Netherlands" "" "0" "" "" "" "" "00296406" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00301659" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00408112" "" "" "" "1" "" "01164" "" "" "M" "likely" "Germany" "" "0" "" "" "" "194279" "00458256" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "311715" "00458536" "" "" "" "2" "" "00006" "{PMID:Fasham 2023:37459438}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "Saudi Arabia" "" "0" "" "" "" "Fam3PatII2" "00458537" "" "" "00458536" "1" "" "00006" "{PMID:Fasham 2023:37459438}" "sister" "F" "" "Saudi Arabia" "" "0" "" "" "" "Fam3PatII3" "00459533" "" "" "" "1" "" "00006" "{PMID:Chmielewska 2024:34527963}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "Europe" "Pat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00265870" "04270" "00265878" "04270" "00265879" "00139" "00296406" "00198" "00301659" "00198" "00408112" "05962" "00458256" "05962" "00458536" "05611" "00458537" "05611" "00459533" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 03669, 04270, 05611, 05962 ## Count = 10 "{{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}}" "0000203658" "04270" "00265870" "02396" "Isolated (sporadic)" "" "Epileptic spasms" "" "" "" "" "" "" "" "" "" "" "" "0000203659" "04270" "00265878" "02396" "Isolated (sporadic)" "" "Epileptic spasms" "" "" "" "" "" "" "" "" "" "" "" "0000203660" "00139" "00265879" "02396" "Isolated (sporadic)" "" "mild intellectual disability (HP:0001256); global developmental delay (HP:0001263); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "0000223820" "00198" "00296406" "01807" "Unknown" "" "Behavioral abnormality (HP:0000708); Global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000228760" "00198" "00301659" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Premature birth (HP:0001622); Apneic episodes in infancy (HP:0005949); Patent ductus arteriosus (HP:0001643); Feeding difficulties in infancy (HP:0008872); Aggressive behavior (HP:0000718); Self-injurious behavior (HP:0100716)" "" "" "" "" "" "" "" "" "" "" "" "0000300241" "05962" "00408112" "01164" "Familial, autosomal dominant" "" "Intellectual disability, Autistic behavior, Behavioral abnormality" "" "" "" "" "" "" "" "" "" "" "" "0000346692" "05962" "00458256" "01164" "Isolated (sporadic)" "01y" "Global developmental delay, Failure to thrive" "" "" "" "" "" "" "" "" "" "" "" "0000346971" "05611" "00458536" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., birth-OFC normal; weight 19.8kg (SD-1.8), height 125cm (SD-0.4), 47.5cm (SD-4.5); severe intellectual disability; delayed gross motor development, crawling; speech babbles; anxiety; stereotypies; no hyperactivity; seizures, generalized tonic-clonic seizures; reduced central tone; increased peripheral tone; exaggerated or brisk tendon reflexes, clonus; ankle contractures" "" "" "" "" "" "" "" "" "NEDHBA" "intellectual disability" "" "0000346972" "05611" "00458537" "00006" "Familial, autosomal recessive" "04y" "see paper; ..., weight 10.9kg (SD-3.5), height 100cm (SD-0.4), 44.5cm (SD-5.5); birth feeding difficulties; severe intellectual disability; delayed gross motor development, not rolling; speech sounds; no anxiety; no stereotypies; no hyperactivity; no seizures; reduced central tone; decreased peripheral tone; MRI brain slit lateral ventricles, dysmorphic corpus callosum, distorted configuration fornix/septum pellucidum; craniosynostosis, ankle contractures" "" "" "" "" "" "" "" "" "NEDHBA" "intellectual disability" "" "0000347610" "05611" "00459533" "00006" "Isolated (sporadic)" "23m" "see paper; ..., height 2nd percentile, OFC 79th percentile; no behavioral problems; developmental delay; hypotonia, distal extremity tremor; EEG normal; MRI large perivascular space/neuroglial cyst; no muskuloskeletal anomalies; no cardiac anomalies; skin Café-au-lait macules; tapering fingers; wide distal phalanges; strawberry hemangioma; wide-based gait" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000266991" "00265870" "1" "02396" "02396" "2019-10-09 06:24:16" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000266998" "00265878" "1" "02396" "02396" "2019-10-09 15:12:35" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000266999" "00265879" "1" "02396" "02396" "2019-10-09 15:33:23" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000297517" "00296406" "1" "01807" "01807" "2020-04-06 09:48:40" "" "" "SEQ" "DNA" "" "" "0000302784" "00301659" "1" "01807" "01807" "2020-05-20 08:42:01" "" "" "SEQ" "DNA" "" "" "0000409367" "00408112" "1" "01164" "01164" "2022-04-14 09:21:53" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" "0000459878" "00458256" "1" "01164" "01164" "2024-12-11 10:40:08" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000460158" "00458536" "1" "00006" "00006" "2024-12-16 23:21:23" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES trio" "0000460159" "00458537" "1" "00006" "00006" "2024-12-16 23:21:23" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES trio" "0000461159" "00459533" "1" "00006" "00006" "2025-01-09 09:19:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000409367" "CUL3" "0000459878" "CUL3" ## 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 = 55 "{{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}}" "0000328129" "0" "50" "2" "225379401" "225379401" "subst" "0" "01804" "CUL3_000001" "g.225379401C>T" "" "" "" "CUL3(NM_001257197.1):c.269G>A (p.(Cys90Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.224514684C>T" "" "VUS" "" "0000349637" "0" "50" "2" "225422417" "225422417" "subst" "0" "02327" "CUL3_000003" "g.225422417T>G" "" "" "" "CUL3(NM_003590.4):c.223A>C (p.T75P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.224557700T>G" "" "VUS" "" "0000351053" "0" "90" "2" "225368542" "225368542" "subst" "0" "02327" "CUL3_000002" "g.225368542G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.224503825G>A" "" "pathogenic" "" "0000514886" "0" "50" "2" "225342960" "225342960" "subst" "0" "01804" "CUL3_000004" "g.225342960A>T" "" "" "" "CUL3(NM_003590.4):c.2132T>A (p.(Met711Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.224478243A>T" "" "VUS" "" "0000514887" "0" "70" "2" "225360614" "225360614" "subst" "0" "02327" "CUL3_000005" "g.225360614G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.224495897G>A" "" "likely pathogenic" "" "0000514888" "0" "70" "2" "225365164" "225365164" "del" "0" "02327" "CUL3_000006" "g.225365164del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.224500447del" "" "likely pathogenic" "" "0000514891" "0" "50" "2" "225376098" "225376098" "del" "0" "01943" "CUL3_000009" "g.225376098del" "" "" "" "CUL3(NM_003590.4):c.856delC (p.H286Ifs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.224511381del" "" "VUS" "" "0000514892" "0" "50" "2" "225400244" "225400244" "subst" "0" "01804" "CUL3_000010" "g.225400244C>T" "" "" "" "CUL3(NM_001257197.1):c.180+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.224535527C>T" "" "VUS" "" "0000514893" "0" "50" "2" "225422460" "225422461" "del" "0" "01943" "CUL3_000011" "g.225422460_225422461del" "" "" "" "CUL3(NM_003590.4):c.179_180delAT (p.N60Sfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.224557743_224557744del" "" "VUS" "" "0000597839" "0" "70" "2" "225376100" "225376100" "subst" "0" "02396" "CUL3_000012" "g.225376100A>G" "" "{PMID:Nakashima 2020:32341456}" "" "" "" "De novo" "" "" "0" "" "" "g.224511383A>G" "" "likely pathogenic" "" "0000597846" "0" "70" "2" "225422503" "225422503" "del" "0" "02396" "CUL3_000013" "g.225422503del" "" "{PMID:Nakashima 2020:32341456}" "" "" "" "De novo" "" "" "0" "" "" "g.224557786del" "" "VUS" "" "0000597847" "0" "90" "2" "225368507" "225368507" "del" "0" "02396" "CUL3_000014" "g.225368507del" "" "{PMID:Nakashima 2020:32341456}" "" "" "" "De novo" "" "" "0" "" "" "g.224503790del" "" "pathogenic" "" "0000607555" "0" "30" "2" "225379325" "225379325" "subst" "0.000296177" "01943" "CUL3_000015" "g.225379325T>C" "" "" "" "CUL3(NM_003590.4):c.539+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.224514608T>C" "" "likely benign" "" "0000607556" "0" "50" "2" "225379453" "225379453" "subst" "0" "01943" "CUL3_000016" "g.225379453C>A" "" "" "" "CUL3(NM_003590.4):c.415G>T (p.V139F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.224514736C>A" "" "VUS" "" "0000660119" "0" "70" "2" "225342916" "225342916" "subst" "0" "01807" "CUL3_000017" "g.225342916C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.224478199C>G" "" "likely pathogenic" "" "0000666138" "0" "70" "2" "225376105" "225376150" "dup" "0" "01807" "CUL3_000018" "g.225376105_225376150dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.224511388_224511433dup" "" "likely pathogenic" "" "0000718543" "0" "50" "2" "225368411" "225368412" "del" "0" "02329" "CUL3_000019" "g.225368411_225368412del" "" "" "" "CUL3(NM_003590.5):c.1336_1337delGT (p.V446Ffs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718544" "0" "50" "2" "225371599" "225371599" "del" "0" "02329" "CUL3_000008" "g.225371599del" "" "" "" "CUL3(NM_003590.5):c.1007delA (p.K336Rfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000822513" "0" "90" "2" "225370674" "225370675" "dup" "0" "03779" "CUL3_000021" "g.225370674_225370675dup" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000846523" "0" "70" "2" "225371697" "225371697" "dup" "0" "01164" "CUL3_000022" "g.225371697dup" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "" "" "0" "" "" "g.224506980dup" "" "likely pathogenic (dominant)" "ACMG" "0000849762" "0" "50" "2" "225339003" "225339003" "subst" "0" "02327" "CUL3_000023" "g.225339003G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849763" "0" "50" "2" "225422417" "225422417" "subst" "0" "01943" "CUL3_000003" "g.225422417T>G" "" "" "" "CUL3(NM_003590.4):c.223A>C (p.T75P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858383" "0" "70" "2" "225368373" "225368373" "subst" "0" "02327" "CUL3_000024" "g.225368373A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000858384" "0" "50" "2" "225379425" "225379425" "subst" "0" "01943" "CUL3_000025" "g.225379425C>T" "" "" "" "CUL3(NM_003590.4):c.443G>A (p.R148Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000884956" "0" "30" "2" "225343040" "225343040" "subst" "0.00311376" "02326" "CUL3_000026" "g.225343040G>A" "" "" "" "CUL3(NM_003590.5):c.2052C>T (p.S684=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884957" "0" "50" "2" "225362526" "225362526" "subst" "0" "01804" "CUL3_000027" "g.225362526G>A" "" "" "" "CUL3(NM_003590.4):c.1651C>T (p.(Gln551*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000884958" "0" "90" "2" "225365151" "225365151" "subst" "0" "02327" "CUL3_000028" "g.225365151C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000884959" "0" "30" "2" "225367675" "225367675" "subst" "0.000749515" "02326" "CUL3_000029" "g.225367675A>C" "" "" "" "CUL3(NM_003590.5):c.1485+7T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884960" "0" "70" "2" "225368439" "225368439" "subst" "0" "02325" "CUL3_000030" "g.225368439A>T" "" "" "" "CUL3(NM_003590.5):c.1307T>A (p.L436*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000884961" "0" "70" "2" "225371704" "225371704" "subst" "0" "02329" "CUL3_000031" "g.225371704G>C" "" "" "" "CUL3(NM_003590.5):c.900C>G (p.Y300*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000884962" "0" "30" "2" "225376058" "225376058" "subst" "0.000676741" "02326" "CUL3_000032" "g.225376058C>G" "" "" "" "CUL3(NM_003590.5):c.883+13G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884963" "0" "50" "2" "225422503" "225422503" "subst" "0" "02329" "CUL3_000033" "g.225422503C>A" "" "" "" "CUL3(NM_003590.5):c.137G>T (p.R46L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923634" "0" "70" "2" "225367767" "225367767" "subst" "4.06587E-6" "02329" "CUL3_000034" "g.225367767G>A" "" "" "" "CUL3(NM_003590.5):c.1400C>T (p.T467M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000961930" "0" "50" "2" "225422572" "225422572" "subst" "0" "02327" "CUL3_000035" "g.225422572A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975032" "0" "30" "2" "225434470" "225434474" "del" "0" "01804" "CUL3_000036" "g.225434470_225434474del" "" "" "" "CUL3(NM_001257198.2):c.19_23del (p.(Phe7IlefsTer2))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992569" "0" "50" "2" "225343000" "225343000" "subst" "4.06339E-6" "02325" "CUL3_000037" "g.225343000C>T" "" "" "" "CUL3(NM_003590.5):c.2092G>A (p.D698N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992570" "0" "50" "2" "225346773" "225346773" "subst" "4.30137E-6" "01804" "CUL3_000038" "g.225346773A>G" "" "" "" "CUL3(NM_003590.4):c.1865T>C (p.(Ile622Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992571" "0" "50" "2" "225365077" "225365077" "subst" "0" "01804" "CUL3_000039" "g.225365077T>C" "" "" "" "CUL3(NM_003590.4):c.1610+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992572" "0" "70" "2" "225365117" "225365117" "subst" "0" "01804" "CUL3_000040" "g.225365117G>T" "" "" "" "CUL3(NM_003590.4):c.1573C>A (p.(Pro525Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000992573" "0" "70" "2" "225370708" "225370711" "del" "0" "01804" "CUL3_000041" "g.225370708_225370711del" "" "" "" "CUL3(NM_003590.4):c.1173_1176delTATT (p.(Phe391fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000992574" "0" "30" "2" "225422503" "225422503" "subst" "5.28847E-5" "01804" "CUL3_000042" "g.225422503C>T" "" "" "" "CUL3(NM_003590.4):c.137G>A (p.(Arg46His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007228" "0" "30" "2" "225370853" "225370853" "subst" "4.76376E-6" "03779" "CUL3_000043" "g.225370853A>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs777806289" "0" "" "" "" "" "likely benign" "" "0001013673" "0" "50" "2" "225338963" "225338963" "subst" "0" "02325" "CUL3_000044" "g.225338963T>G" "" "" "" "CUL3(NM_003590.5):c.2306A>C (p.*769Sext*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013674" "0" "10" "2" "225422317" "225422317" "subst" "0" "02326" "CUL3_000045" "g.225422317G>A" "" "" "" "CUL3(NM_003590.5):c.264+59C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001018818" "0" "70" "2" "225368425" "225368425" "del" "0" "01164" "CUL3_000046" "g.225368425del" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "" "" "" "g.224503708del" "" "likely pathogenic (dominant)" "ACMG" "0001019147" "3" "30" "2" "225376319" "225376319" "subst" "1.80089E-5" "00006" "CUL3_000047" "g.225376319A>G" "" "{PMID:Fasham 2023:37459438}" "" "" "" "Germline" "" "" "0" "" "" "g.224511602A>G" "" "likely benign" "" "0001019150" "3" "30" "2" "225376319" "225376319" "subst" "1.80089E-5" "00006" "CUL3_000047" "g.225376319A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.224511602A>G" "" "likely benign" "" "0001020294" "0" "90" "2" "225376301" "225376301" "subst" "0" "00006" "CUL3_000048" "g.225376301T>C" "" "{PMID:Chmielewska 2024:34527963}" "" "IVS5-2A>G" "CUL3 not generally associated with growth anomalies in humans" "De novo" "" "" "0" "" "" "g.224511584T>C" "" "pathogenic (dominant)" "ACMG" "0001024540" "0" "50" "2" "225376097" "225376097" "subst" "1.22707E-5" "02325" "CUL3_000049" "g.225376097T>C" "" "" "" "CUL3(NM_003590.5):c.857A>G (p.H286R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024541" "0" "90" "2" "225376215" "225376215" "subst" "0" "02329" "CUL3_000050" "g.225376215G>A" "" "" "" "CUL3(NM_003590.5):c.739C>T (p.R247*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001033047" "0" "70" "2" "225346744" "225346744" "subst" "0" "01804" "CUL3_000051" "g.225346744G>A" "" "" "" "CUL3(NM_003590.5):c.1894C>T (p.(Gln632*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001033048" "0" "50" "2" "225370766" "225370766" "subst" "0" "01804" "CUL3_000052" "g.225370766C>T" "" "" "" "CUL3(NM_003590.5):c.1113G>A (p.(Ala371=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033049" "0" "50" "2" "225378293" "225378293" "subst" "0" "01804" "CUL3_000053" "g.225378293T>C" "" "" "" "CUL3(NM_003590.5):c.602A>G (p.(Tyr201Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051101" "0" "50" "2" "225370770" "225370770" "subst" "0" "01804" "CUL3_000054" "g.225370770A>G" "" "" "" "CUL3(NM_003590.5):c.1109T>C (p.(Ile370Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001068206" "0" "70" "2" "225339003" "225339003" "subst" "0" "03779" "CUL3_000023" "g.225339003G>A" "" "" "" "" "" "Unknown" "" "rs765501841" "0" "" "" "" "" "likely pathogenic" "" ## 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 CUL3 ## Count = 55 "{{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}}" "0000328129" "00025468" "50" "467" "0" "467" "0" "c.467G>A" "r.(?)" "p.(Cys156Tyr)" "" "0000349637" "00025468" "50" "223" "0" "223" "0" "c.223A>C" "r.(?)" "p.(Thr75Pro)" "" "0000351053" "00025468" "90" "1207" "-3" "1207" "-3" "c.1207-3C>T" "r.spl?" "p.?" "" "0000514886" "00025468" "50" "2132" "0" "2132" "0" "c.2132T>A" "r.(?)" "p.(Met711Lys)" "" "0000514887" "00025468" "70" "1777" "0" "1777" "0" "c.1777C>T" "r.(?)" "p.(Gln593Ter)" "" "0000514888" "00025468" "70" "1526" "0" "1526" "0" "c.1526del" "r.(?)" "p.(Thr509ArgfsTer32)" "" "0000514891" "00025468" "50" "856" "0" "856" "0" "c.856del" "r.(?)" "p.(His286IlefsTer3)" "" "0000514892" "00025468" "50" "378" "1" "378" "1" "c.378+1G>A" "r.spl?" "p.?" "" "0000514893" "00025468" "50" "179" "0" "180" "0" "c.179_180del" "r.(?)" "p.(Asn60SerfsTer8)" "" "0000597839" "00025468" "70" "854" "0" "854" "0" "c.854T>C" "r.(?)" "p.(Val285Ala)" "" "0000597846" "00025468" "70" "137" "0" "137" "0" "c.137del" "r.(?)" "p.(Arg46Leufs*32)" "" "0000597847" "00025468" "90" "1239" "0" "1239" "0" "c.1239del" "r.(?)" "p.(Asp413Glufs*42)" "" "0000607555" "00025468" "30" "539" "4" "539" "4" "c.539+4A>G" "r.spl?" "p.?" "" "0000607556" "00025468" "50" "415" "0" "415" "0" "c.415G>T" "r.(?)" "p.(Val139Phe)" "" "0000660119" "00025468" "70" "2175" "1" "2175" "1" "c.2175+1G>C" "r.spl" "p.?" "" "0000666138" "00025468" "70" "805" "0" "850" "0" "c.805_850dup" "r.(?)" "p.(Leu284Hisfs*36)" "" "0000718543" "00025468" "50" "1336" "0" "1337" "0" "c.1336_1337del" "r.(?)" "p.(Val446Phefs*2)" "" "0000718544" "00025468" "50" "1007" "0" "1007" "0" "c.1007del" "r.(?)" "p.(Lys336ArgfsTer13)" "" "0000822513" "00025468" "90" "1206" "0" "1206" "1" "c.1206_1206+1dup" "r.(?)" "p.(?)" "" "0000846523" "00025468" "70" "909" "0" "909" "0" "c.909dup" "r.(?)" "p.(Ser304*)" "" "0000849762" "00025468" "50" "2266" "0" "2266" "0" "c.2266C>T" "r.(?)" "p.(Arg756*)" "" "0000849763" "00025468" "50" "223" "0" "223" "0" "c.223A>C" "r.(?)" "p.(Thr75Pro)" "" "0000858383" "00025468" "70" "1373" "0" "1373" "0" "c.1373T>A" "r.(?)" "p.(Leu458*)" "" "0000858384" "00025468" "50" "443" "0" "443" "0" "c.443G>A" "r.(?)" "p.(Arg148Gln)" "" "0000884956" "00025468" "30" "2052" "0" "2052" "0" "c.2052C>T" "r.(?)" "p.(Ser684=)" "" "0000884957" "00025468" "50" "1651" "0" "1651" "0" "c.1651C>T" "r.(?)" "p.(Gln551*)" "" "0000884958" "00025468" "90" "1539" "0" "1539" "0" "c.1539G>A" "r.(?)" "p.(Trp513*)" "" "0000884959" "00025468" "30" "1485" "7" "1485" "7" "c.1485+7T>G" "r.(=)" "p.(=)" "" "0000884960" "00025468" "70" "1307" "0" "1307" "0" "c.1307T>A" "r.(?)" "p.(Leu436*)" "" "0000884961" "00025468" "70" "900" "0" "900" "0" "c.900C>G" "r.(?)" "p.(Tyr300*)" "" "0000884962" "00025468" "30" "883" "13" "883" "13" "c.883+13G>C" "r.(=)" "p.(=)" "" "0000884963" "00025468" "50" "137" "0" "137" "0" "c.137G>T" "r.(?)" "p.(Arg46Leu)" "" "0000923634" "00025468" "70" "1400" "0" "1400" "0" "c.1400C>T" "r.(?)" "p.(Thr467Met)" "" "0000961930" "00025468" "50" "68" "0" "68" "0" "c.68T>C" "r.(?)" "p.(Met23Thr)" "" "0000975032" "00025468" "30" "67" "-11898" "67" "-11894" "c.67-11898_67-11894del" "r.(=)" "p.(=)" "" "0000992569" "00025468" "50" "2092" "0" "2092" "0" "c.2092G>A" "r.(?)" "p.(Asp698Asn)" "" "0000992570" "00025468" "50" "1865" "0" "1865" "0" "c.1865T>C" "r.(?)" "p.(Ile622Thr)" "" "0000992571" "00025468" "50" "1610" "3" "1610" "3" "c.1610+3A>G" "r.spl?" "p.?" "" "0000992572" "00025468" "70" "1573" "0" "1573" "0" "c.1573C>A" "r.(?)" "p.(Pro525Thr)" "" "0000992573" "00025468" "70" "1173" "0" "1176" "0" "c.1173_1176del" "r.(?)" "p.(Phe391Leufs*5)" "" "0000992574" "00025468" "30" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Arg46His)" "" "0001007228" "00025468" "30" "1030" "-4" "1030" "-4" "c.1030-4T>A" "r.(?)" "p.(?)" "" "0001013673" "00025468" "50" "2306" "0" "2306" "0" "c.2306A>C" "r.(?)" "p.(*769Serext*22)" "" "0001013674" "00025468" "10" "264" "59" "264" "59" "c.264+59C>T" "r.(=)" "p.(=)" "" "0001018818" "00025468" "70" "1321" "0" "1321" "0" "c.1321del" "r.(?)" "p.(Leu441Serfs*14)" "9" "0001019147" "00025468" "30" "655" "-20" "655" "-20" "c.655-20T>C" "r.(=)" "p.(=)" "" "0001019150" "00025468" "30" "655" "-20" "655" "-20" "c.655-20T>C" "r.(=)" "p.(=)" "" "0001020294" "00025468" "90" "655" "-2" "655" "-2" "c.655-2A>G" "r.spl" "p.?" "5i" "0001024540" "00025468" "50" "857" "0" "857" "0" "c.857A>G" "r.(?)" "p.(His286Arg)" "" "0001024541" "00025468" "90" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247*)" "" "0001033047" "00025468" "70" "1894" "0" "1894" "0" "c.1894C>T" "r.(?)" "p.(Gln632*)" "" "0001033048" "00025468" "50" "1113" "0" "1113" "0" "c.1113G>A" "r.(?)" "p.(=)" "" "0001033049" "00025468" "50" "602" "0" "602" "0" "c.602A>G" "r.(?)" "p.(Tyr201Cys)" "" "0001051101" "00025468" "50" "1109" "0" "1109" "0" "c.1109T>C" "r.(?)" "p.(Ile370Thr)" "" "0001068206" "00025468" "70" "2266" "0" "2266" "0" "c.2266C>T" "r.(?)" "p.(Arg756Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000266991" "0000597839" "0000266998" "0000597846" "0000266999" "0000597847" "0000297517" "0000660119" "0000302784" "0000666138" "0000409367" "0000846523" "0000459878" "0001018818" "0000460158" "0001019147" "0000460159" "0001019150" "0000461159" "0001020294"