### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CAMK2B) # 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}}" "CAMK2B" "calcium/calmodulin-dependent protein kinase II beta" "7" "p14.3-p14.1" "unknown" "NG_029407.1" "UD_132084388798" "" "https://www.LOVD.nl/CAMK2B" "" "1" "1461" "816" "607707" "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/CAMK2B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-02-03 16:18:03" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024294" "CAMK2B" "transcript variant 1" "008" "NM_001220.4" "" "NP_001211.3" "" "" "" "-210" "4376" "2001" "44365230" "44256749" "00006" "2017-07-06 08:46:33" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00614" "MRD20" "mental retardation, autosomal dominant, type 20 (MRD20)" "AD" "613443" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-06-06 18:59:00" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06749" "MRD54" "Mental retardation, autosomal dominant 54" "AD" "617799" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CAMK2B" "00139" "CAMK2B" "06749" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00106659" "" "" "" "1" "" "01197" "{PMID:Kury 2017:29100089}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "United States" "" "0" "" "" "" "Pat15" "00106660" "" "" "" "1" "" "01197" "{PMID:Kury 2017:29100089}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "United States" "" "0" "" "" "" "Pat16" "00106661" "" "" "" "1" "" "01197" "{PMID:Kury 2017:29100089}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "United States" "" "0" "" "" "" "Pat17" "00106662" "" "" "" "1" "" "01197" "{PMID:Kury 2017:29100089}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat18" "00106663" "" "" "" "1" "" "01197" "{PMID:Kury 2017:29100089}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat19" "00106664" "" "" "" "1" "" "01197" "{PMID:Kury 2017:29100089}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat21" "00106665" "" "" "" "1" "" "01197" "{PMID:Kury 2017:29100089}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "United States" "" "0" "" "" "" "Pat22" "00106666" "" "" "" "1" "" "01197" "{PMID:Kury 2017:29100089}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "United States" "" "0" "" "" "" "Pat23" "00106667" "" "" "" "1" "" "01197" "{PMID:Kury 2017:29100089}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Norway" "" "0" "" "" "" "Pat24" "00295974" "" "" "" "1" "" "03555" "TBD" "" "F" "no" "(Italy)" "" "0" "" "" "Indian" "" "00447947" "" "" "" "1" "" "00006" "{PMID:Kury 2017:29100089}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United States" "" "0" "" "" "" "Pat20" "00447960" "" "" "" "1" "" "00006" "{PMID:Akita 2018:29560374}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Japan" "" "0" "" "" "" "Pat4" "00447961" "" "" "" "1" "" "00006" "{PMID:Akita 2018:29560374}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Japan" "" "0" "" "" "" "Pat5" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00106659" "00139" "00106660" "00139" "00106661" "00139" "00106662" "00139" "00106663" "00139" "00106664" "00139" "00106665" "00139" "00106666" "00139" "00106667" "00139" "00295974" "00614" "00447947" "00139" "00447960" "05611" "00447961" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00614, 05611, 06749 ## Count = 13 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000084465" "00139" "00106659" "01197" "Isolated (sporadic)" "05y01m" "HP:0001249; HP:0000750; HP:0001250; intellectual disability (HP:0001249); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "0000084466" "00139" "00106660" "01197" "Isolated (sporadic)" "11y" "HP:0001249; HP:0000750; HP:0001252; HP:0100022; HP:0100851; HP:0000478; HP:0025031; intellectual disability (HP:0001249); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "0000084467" "00139" "00106661" "01197" "Isolated (sporadic)" "03y10m" "HP:0001263; HP:0001249; HP:0000750; HP:0002194; HP:0001252; HP:0100022; HP:0100851; HP:0001507; HP:0000478; HP:0000271; HP:0000252; HP:0025031; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "0000084468" "00139" "00106662" "01197" "Isolated (sporadic)" "10y11m" "HP:0001263; HP:0001249; HP:0000750; HP:0002194; HP:0001252; HP:0100851; HP:0001507; HP:0000478; HP:0000271; HP:0025031; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "0000084469" "00139" "00106663" "01197" "Isolated (sporadic)" "11y" "HP:0001263; HP:0001249; HP:0000750; HP:0002194; HP:0001252; HP:0100022; HP:0100851; HP:0001507; HP:0000478; HP:0000271; HP:0000252; HP:0025031; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "0000084470" "00139" "00106664" "01197" "Isolated (sporadic)" "14y02m" "HP:0001263; HP:0001249; HP:0000750; HP:0002194; HP:0001252; HP:0100851; HP:0001250; HP:0001507; HP:0000478; HP:0000271; HP:0025031; intellectual disability (HP:0001249); mild global developmental delay (HP:0011342); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "0000084471" "00139" "00106665" "01197" "Isolated (sporadic)" "14y" "HP:0001263; HP:0001249; HP:0000750; HP:0002194; HP:0001252; HP:0000478; HP:0025031; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "0000084472" "00139" "00106666" "01197" "Isolated (sporadic)" "07y" "HP:0001249; HP:0000750; HP:0001252; HP:0100851; HP:0001250; HP:0001507; HP:0000271; HP:0000252; intellectual disability (HP:0001249); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "0000084473" "00139" "00106667" "01197" "Isolated (sporadic)" "11y" "HP:0001263; HP:0001249; HP:0000750; HP:0002194; HP:0001252; HP:0100022; HP:0100851; HP:0001250; HP:0001507; HP:0000478; HP:0000252; HP:0025031; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "0000223441" "00614" "00295974" "03555" "Isolated (sporadic)" "22y" "Global developmental delay (severe), intellectual disability, microcephaly, hypotonia (severe)" "00y03m?" "" "" "" "" "" "" "" "" "" "0000337140" "00139" "00447947" "00006" "Isolated (sporadic)" "" "severe intellectual disability (HP:0001249; delayed speech and language development (HP:0000750); normal behavior (-HP:0100851); global developmental delay (HP:0001263); delayed gross motor development (HP:0002194); hypotonia (HP:0001252); abnormal facial shape (HP:0001999); abnormality of the digestive system (HP:0025031); growth abnormality (HP:0001507); visual impairment (HP:0000505); no seizures (-HP:0001250); microcephaly (HP:0000256)" "" "" "" "" "" "" "" "" "MRD54" "intellectual disability" "0000337150" "05611" "00447960" "00006" "Isolated (sporadic)" "7y" "see paper; ..., 1y-developmental delay; 1y11m-open eyelid with akinesia when fallen asleep; 2y-open eyelid with eye deviation followed by clonic hemiconvulsion during asleep; EEG spikes in frontal region (2y and 7y); OFC 32.5 cm(−0.6 SD) at birth, (and 47.5 cm(−2.3 SD) at 5y; 1y7m-walk, 2y-words; mild intelletucal disability, mild hypotonia; no involuntary movement; episodic ataxia; MRI brain 4y-normal; elder brother febrile seizure" "" "" "" "" "" "" "" "" "MRD54" "developmental delay" "0000337151" "05611" "00447961" "00006" "Isolated (sporadic)" "8y" "see paper; ..., 4m-developmental delay; EEG no epileptic discharge (10 month and 5y); OFC 35.0 cm(+1.1 SD) at birth, 43.3 cm(−1.4 SD) at 9 month, 46 cm(−2.4 SD) at 2y; no head control, no words; profound intelletucal disability, hypotonia with ankle clonus; myoclonic movements extremities/lip, ocular convergence spasm, oculogyric crisis; no ataxia; MRI brain 12m-normal; 2y-progressive cerebellar atrophy; elder brother mild intellectual disability" "" "" "" "" "" "" "" "" "MRD54" "developmental delay" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000107130" "00106659" "1" "01197" "01197" "2017-07-07 14:15:19" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000107131" "00106660" "1" "01197" "01197" "2017-07-07 14:20:08" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000107132" "00106661" "1" "01197" "01197" "2017-07-07 14:25:08" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000107133" "00106662" "1" "01197" "01197" "2017-07-07 14:30:02" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000107134" "00106663" "1" "01197" "01197" "2017-07-07 14:34:04" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000107135" "00106664" "1" "01197" "01197" "2017-07-07 14:44:26" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000107136" "00106665" "1" "01197" "01197" "2017-07-07 14:50:39" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000107137" "00106666" "1" "01197" "01197" "2017-07-07 14:55:49" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000107138" "00106667" "1" "01197" "01197" "2017-07-07 15:00:02" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000297145" "00295974" "1" "03555" "03555" "2020-03-31 16:21:08" "03555" "2020-03-31 16:57:50" "SEQ-NG-I" "DNA" "blood" "WES" "0000449518" "00447947" "1" "00006" "00006" "2024-02-03 16:36:25" "" "" "SEQ-NG" "DNA" "" "" "0000449533" "00447960" "1" "00006" "00006" "2024-02-05 12:29:02" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000449534" "00447961" "1" "00006" "00006" "2024-02-05 12:29:02" "" "" "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 = 53 "{{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}}" "0000172887" "0" "70" "7" "44323805" "44323805" "subst" "0" "01197" "CAMK2B_000001" "g.44323805G>A" "1/20,000 trios with developmental disorders" "{PMID:Kury 2017:29100089}" "" "" "" "De novo" "-" "" "0" "" "" "g.44284206G>A" "" "likely pathogenic (dominant)" "" "0000172888" "0" "90" "7" "44294154" "44294154" "subst" "0" "01197" "CAMK2B_000002" "g.44294154C>T" "1/20,000 trios with developmental disorders" "{PMID:Kury 2017:29100089}" "" "" "" "De novo" "-" "" "0" "" "" "g.44254555C>T" "" "pathogenic (dominant)" "" "0000172889" "0" "90" "7" "44283125" "44283125" "subst" "0" "01197" "CAMK2B_000003" "g.44283125G>A" "3/20,000 trios with developmental disorders" "{PMID:Kury 2017:29100089}" "" "" "" "De novo" "-" "" "0" "" "" "g.44243526G>A" "" "pathogenic (dominant)" "" "0000172890" "0" "90" "7" "44283125" "44283125" "subst" "0" "01197" "CAMK2B_000003" "g.44283125G>A" "3/20,000 trios with developmental disorders" "{PMID:Kury 2017:29100089}" "" "" "" "De novo" "-" "" "0" "" "" "g.44243526G>A" "" "pathogenic (dominant)" "" "0000172891" "0" "90" "7" "44283125" "44283125" "subst" "0" "01197" "CAMK2B_000003" "g.44283125G>A" "3/20,000 trios with developmental disorders" "{PMID:Kury 2017:29100089}" "" "" "" "De novo" "-" "" "0" "" "" "g.44243526G>A" "" "pathogenic (dominant)" "" "0000172892" "0" "90" "7" "44281927" "44281927" "subst" "0" "01197" "CAMK2B_000004" "g.44281927C>T" "1/20,000 trios with developmental disorders" "{PMID:Kury 2017:29100089}" "" "" "" "De novo" "-" "" "0" "" "" "g.44242328C>T" "" "pathogenic (dominant)" "" "0000172893" "0" "30" "7" "44281383" "44281383" "subst" "0" "01197" "CAMK2B_000005" "g.44281383C>T" "1/20,000 trios with developmental disorders" "{PMID:Kury 2017:29100089}" "" "" "" "De novo" "-" "" "0" "" "" "g.44241784C>T" "" "likely pathogenic (dominant)" "" "0000172894" "0" "90" "7" "44281301" "44281301" "subst" "0" "01197" "CAMK2B_000007" "g.44281301T>C" "1/20,000 trios with developmental disorders" "{PMID:Kury 2017:29100089}" "" "" "" "De novo" "-" "" "0" "" "" "g.44241702T>C" "" "pathogenic (dominant)" "" "0000172895" "0" "70" "7" "44281298" "44281298" "subst" "0" "01197" "CAMK2B_000006" "g.44281298C>T" "1/20,000 trios with developmental disorders" "{PMID:Kury 2017:29100089}" "" "" "" "De novo" "-" "" "0" "" "" "g.44241699C>T" "" "likely pathogenic (dominant)" "" "0000532064" "0" "50" "7" "44260489" "44260491" "del" "0" "02325" "CAMK2B_000008" "g.44260489_44260491del" "" "" "" "CAMK2B(NM_001220.5):c.1609_1611delGAG (p.E537del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44220890_44220892del" "" "VUS" "" "0000532066" "0" "30" "7" "44269066" "44269066" "subst" "0.000299558" "02325" "CAMK2B_000010" "g.44269066C>T" "" "" "" "CAMK2B(NM_001220.5):c.1260G>A (p.R420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44229467C>T" "" "likely benign" "" "0000532067" "0" "90" "7" "44281299" "44281299" "subst" "0" "02325" "CAMK2B_000011" "g.44281299C>A" "" "" "" "CAMK2B(NM_001220.5):c.903G>T (p.K301N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44241700C>A" "" "pathogenic" "" "0000532069" "0" "50" "7" "44282158" "44282158" "subst" "0" "02327" "CAMK2B_000013" "g.44282158C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44242559C>T" "" "VUS" "" "0000532071" "0" "50" "7" "44323801" "44323801" "subst" "0" "02327" "CAMK2B_000015" "g.44323801C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44284202C>T" "" "VUS" "" "0000611083" "0" "30" "7" "44259684" "44259684" "subst" "8.4564E-5" "02327" "CAMK2B_000016" "g.44259684C>T" "" "" "" "CAMK2B(NM_001220.5):c.1978G>A (p.(Ala660Thr), p.A660T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44220085C>T" "" "likely benign" "" "0000611084" "0" "50" "7" "44281923" "44281923" "subst" "0" "02327" "CAMK2B_000017" "g.44281923C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44242324C>A" "" "VUS" "" "0000611085" "0" "50" "7" "44282890" "44282890" "subst" "0" "02327" "CAMK2B_000018" "g.44282890C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44243291C>T" "" "VUS" "" "0000611086" "0" "50" "7" "44282923" "44282923" "subst" "0" "02327" "CAMK2B_000019" "g.44282923C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44243324C>T" "" "VUS" "" "0000611087" "0" "50" "7" "44294175" "44294175" "subst" "0" "01943" "CAMK2B_000020" "g.44294175C>A" "" "" "" "CAMK2B(NM_001220.4):c.307G>T (p.V103L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44254576C>A" "" "VUS" "" "0000611088" "0" "50" "7" "44294176" "44294176" "subst" "0" "01943" "CAMK2B_000021" "g.44294176A>T" "" "" "" "CAMK2B(NM_001220.4):c.306T>A (p.I102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44254577A>T" "" "VUS" "" "0000659769" "0" "90" "7" "44283125" "44283125" "subst" "0" "03555" "CAMK2B_000003" "g.44283125G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.44243526G>A" "" "pathogenic" "ACMG" "0000678107" "0" "50" "7" "44268994" "44268997" "dup" "0" "01804" "CAMK2B_000022" "g.44268994_44268997dup" "" "" "" "CAMK2B(NM_001220.4):c.1335_1336insAGCC (p.(Pro446SerfsTer8))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678108" "0" "70" "7" "44282206" "44282206" "subst" "0" "01943" "CAMK2B_000023" "g.44282206C>T" "" "" "" "CAMK2B(NM_001220.4):c.649G>A (p.E217K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000721463" "0" "50" "7" "44259684" "44259684" "subst" "8.4564E-5" "02325" "CAMK2B_000016" "g.44259684C>T" "" "" "" "CAMK2B(NM_001220.5):c.1978G>A (p.(Ala660Thr), p.A660T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721464" "0" "50" "7" "44281378" "44281378" "subst" "0" "01943" "CAMK2B_000024" "g.44281378C>T" "" "" "" "CAMK2B(NM_001220.4):c.824G>A (p.R275H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803158" "0" "50" "7" "44268525" "44268525" "subst" "0.000100453" "01943" "CAMK2B_000025" "g.44268525T>A" "" "" "" "CAMK2B(NM_001220.4):c.1340-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851623" "0" "30" "7" "44269103" "44269103" "subst" "0" "01943" "CAMK2B_000026" "g.44269103G>A" "" "" "" "CAMK2B(NM_001220.4):c.1226-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851624" "0" "30" "7" "44286796" "44286796" "subst" "1.62631E-5" "02325" "CAMK2B_000028" "g.44286796G>A" "" "" "" "CAMK2B(NM_001220.5):c.342-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860831" "0" "50" "7" "44282173" "44282173" "subst" "0" "02325" "CAMK2B_000027" "g.44282173C>A" "" "" "" "CAMK2B(NM_001220.5):c.682G>T (p.A228S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887902" "0" "70" "7" "44323825" "44323825" "dup" "0" "02326" "CAMK2B_000029" "g.44323825dup" "" "" "" "CAMK2B(NM_001220.5):c.70dupG (p.A24Gfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000924726" "0" "90" "7" "44283125" "44283125" "subst" "0" "02327" "CAMK2B_000003" "g.44283125G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929354" "0" "50" "7" "44283019" "44283019" "subst" "0" "02327" "CAMK2B_000030" "g.44283019C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000959739" "0" "90" "7" "44283125" "44283125" "subst" "0" "00006" "CAMK2B_000003" "g.44283125G>A" "" "{PMID:Kury 2017:29100089}" "" "" "" "De novo" "" "" "0" "" "" "g.44243526G>A" "" "pathogenic (dominant)" "" "0000959755" "0" "90" "7" "44282217" "44282217" "subst" "0" "00006" "CAMK2B_000032" "g.44282217G>A" "" "{PMID:Akita 2018:29560374}" "" "" "" "De novo" "" "" "0" "" "" "g.44242618G>A" "" "pathogenic (dominant)" "ACMG" "0000959756" "0" "90" "7" "44281350" "44281350" "subst" "0" "00006" "CAMK2B_000031" "g.44281350T>A" "" "{PMID:Akita 2018:29560374}" "" "" "" "De novo" "" "" "0" "" "" "g.44241751T>A" "" "pathogenic (dominant)" "ACMG" "0000964602" "0" "50" "7" "44282920" "44282920" "subst" "0" "02325" "CAMK2B_000033" "g.44282920G>A" "" "" "" "CAMK2B(NM_001220.5):c.530C>T (p.T177I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977722" "0" "30" "7" "44259671" "44259671" "subst" "0" "01804" "CAMK2B_000034" "g.44259671G>A" "" "" "" "CAMK2B(NM_001220.4):c.1991C>T (p.(Pro664Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977723" "0" "30" "7" "44259684" "44259684" "subst" "8.4564E-5" "01804" "CAMK2B_000016" "g.44259684C>T" "" "" "" "CAMK2B(NM_001220.5):c.1978G>A (p.(Ala660Thr), p.A660T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977724" "0" "30" "7" "44265317" "44265317" "subst" "0" "01804" "CAMK2B_000035" "g.44265317A>G" "" "" "" "CAMK2B(NM_001220.5):c.1597+798T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996534" "0" "30" "7" "44266108" "44266108" "subst" "0" "01804" "CAMK2B_000036" "g.44266108T>C" "" "" "" "CAMK2B(NM_001220.4):c.1597+7A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996535" "0" "50" "7" "44268443" "44268443" "del" "0" "01804" "CAMK2B_000037" "g.44268443del" "" "" "" "CAMK2B(NM_001220.4):c.1424delC (p.(Pro475fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996536" "0" "50" "7" "44268445" "44268445" "subst" "0" "01804" "CAMK2B_000038" "g.44268445C>T" "" "" "" "CAMK2B(NM_001220.4):c.1418G>A (p.(Gly473Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996537" "0" "30" "7" "44269061" "44269061" "subst" "0" "01804" "CAMK2B_000039" "g.44269061C>T" "" "" "" "CAMK2B(NM_001220.4):c.1265G>A (p.(Gly422Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996538" "0" "30" "7" "44274027" "44274027" "subst" "0" "01804" "CAMK2B_000040" "g.44274027C>T" "" "" "" "CAMK2B(NM_001220.4):c.1093G>A (p.(Ala365Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014358" "0" "70" "7" "44268523" "44268523" "subst" "0" "02327" "CAMK2B_000041" "g.44268523G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001036383" "0" "30" "7" "44265708" "44265708" "subst" "0" "01804" "CAMK2B_000042" "g.44265708C>G" "" "" "" "CAMK2B(NM_001220.5):c.1597+407G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036384" "0" "30" "7" "44266226" "44266226" "subst" "0" "01804" "CAMK2B_000043" "g.44266226T>C" "" "" "" "CAMK2B(NM_001220.5):c.1486A>G (p.(Ile496Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036385" "0" "30" "7" "44272443" "44272443" "subst" "1.62496E-5" "01804" "CAMK2B_000044" "g.44272443T>C" "" "" "" "CAMK2B(NM_001220.5):c.1154A>G (p.(His385Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036386" "0" "30" "7" "44283014" "44283014" "del" "0" "01804" "CAMK2B_000045" "g.44283014del" "" "" "" "CAMK2B(NM_001220.5):c.517+10del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036387" "0" "30" "7" "44284213" "44284213" "subst" "0" "01804" "CAMK2B_000046" "g.44284213C>T" "" "" "" "CAMK2B(NM_001220.5):c.415-1087G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036388" "0" "30" "7" "44323334" "44323334" "subst" "0" "01804" "CAMK2B_000047" "g.44323334C>T" "" "" "" "CAMK2B(NM_001220.5):c.160+396G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047557" "0" "70" "7" "44268443" "44268443" "del" "0" "03779" "CAMK2B_000037" "g.44268443del" "" "" "" "" "" "Unknown" "" "rs1562813271" "0" "" "" "" "" "likely pathogenic" "" "0001052668" "0" "70" "7" "44283117" "44283117" "subst" "0" "01804" "CAMK2B_000048" "g.44283117G>C" "" "" "" "CAMK2B(NM_001220.5):c.424C>G (p.(Leu142Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 CAMK2B ## Count = 53 "{{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}}" "0000172887" "00024294" "70" "85" "0" "85" "0" "c.85C>T" "r.(?)" "p.(Arg29*)" "" "0000172888" "00024294" "90" "328" "0" "328" "0" "c.328G>A" "r.(?)" "p.(Glu110Lys)" "" "0000172889" "00024294" "90" "416" "0" "416" "0" "c.416C>T" "r.(?)" "p.(Pro139Leu)" "" "0000172890" "00024294" "90" "416" "0" "416" "0" "c.416C>T" "r.(?)" "p.(Pro139Leu)" "" "0000172891" "00024294" "90" "416" "0" "416" "0" "c.416C>T" "r.(?)" "p.(Pro139Leu)" "" "0000172892" "00024294" "90" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Glu237Lys)" "" "0000172893" "00024294" "70" "820" "-1" "820" "-1" "c.820-1G>A" "r.spl" "p.?" "" "0000172894" "00024294" "90" "901" "0" "901" "0" "c.901A>G" "r.(?)" "p.(Lys301Glu)" "" "0000172895" "00024294" "70" "903" "1" "903" "1" "c.903+1G>A" "r.spl?" "p.?" "" "0000532064" "00024294" "50" "1609" "0" "1611" "0" "c.1609_1611del" "r.(?)" "p.(Glu537del)" "" "0000532066" "00024294" "30" "1260" "0" "1260" "0" "c.1260G>A" "r.(?)" "p.(Arg420=)" "" "0000532067" "00024294" "90" "903" "0" "903" "0" "c.903G>T" "r.(?)" "p.(Lys301Asn)" "" "0000532069" "00024294" "50" "696" "1" "696" "1" "c.696+1G>A" "r.spl?" "p.?" "" "0000532071" "00024294" "50" "89" "0" "89" "0" "c.89G>A" "r.(?)" "p.(Arg30His)" "" "0000611083" "00024294" "30" "1978" "0" "1978" "0" "c.1978G>A" "r.(?)" "p.(Ala660Thr)" "" "0000611084" "00024294" "50" "713" "0" "713" "0" "c.713G>T" "r.(?)" "p.(Trp238Leu)" "" "0000611085" "00024294" "50" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Arg187His)" "" "0000611086" "00024294" "50" "527" "0" "527" "0" "c.527G>A" "r.(?)" "p.(Gly176Asp)" "" "0000611087" "00024294" "50" "307" "0" "307" "0" "c.307G>T" "r.(?)" "p.(Val103Leu)" "" "0000611088" "00024294" "50" "306" "0" "306" "0" "c.306T>A" "r.(?)" "p.(Ile102=)" "" "0000659769" "00024294" "90" "416" "0" "416" "0" "c.416C>T" "r.(?)" "p.(Pro139Leu)" "7" "0000678107" "00024294" "50" "1332" "0" "1335" "0" "c.1332_1335dup" "r.(?)" "p.(Pro446SerfsTer8)" "" "0000678108" "00024294" "70" "649" "0" "649" "0" "c.649G>A" "r.(?)" "p.(Glu217Lys)" "" "0000721463" "00024294" "50" "1978" "0" "1978" "0" "c.1978G>A" "r.(?)" "p.(Ala660Thr)" "" "0000721464" "00024294" "50" "824" "0" "824" "0" "c.824G>A" "r.(?)" "p.(Arg275His)" "" "0000803158" "00024294" "50" "1340" "-2" "1340" "-2" "c.1340-2A>T" "r.spl?" "p.?" "" "0000851623" "00024294" "30" "1226" "-3" "1226" "-3" "c.1226-3C>T" "r.spl?" "p.?" "" "0000851624" "00024294" "30" "342" "-5" "342" "-5" "c.342-5C>T" "r.spl?" "p.?" "" "0000860831" "00024294" "50" "682" "0" "682" "0" "c.682G>T" "r.(?)" "p.(Ala228Ser)" "" "0000887902" "00024294" "70" "70" "0" "70" "0" "c.70dup" "r.(?)" "p.(Ala24Glyfs*16)" "" "0000924726" "00024294" "90" "416" "0" "416" "0" "c.416C>T" "r.(?)" "p.(Pro139Leu)" "" "0000929354" "00024294" "50" "517" "5" "517" "5" "c.517+5G>A" "r.spl?" "p.?" "" "0000959739" "00024294" "90" "416" "0" "416" "0" "c.416C>T" "r.(?)" "p.(Pro139Leu)" "" "0000959755" "00024294" "90" "638" "0" "638" "0" "c.638C>T" "r.(?)" "p.(Pro213Leu)" "" "0000959756" "00024294" "90" "852" "0" "852" "0" "c.852A>T" "r.(?)" "p.(Arg284Ser)" "" "0000964602" "00024294" "50" "530" "0" "530" "0" "c.530C>T" "r.(?)" "p.(Thr177Ile)" "" "0000977722" "00024294" "30" "1991" "0" "1991" "0" "c.1991C>T" "r.(?)" "p.(Pro664Leu)" "" "0000977723" "00024294" "30" "1978" "0" "1978" "0" "c.1978G>A" "r.(?)" "p.(Ala660Thr)" "" "0000977724" "00024294" "30" "1597" "798" "1597" "798" "c.1597+798T>C" "r.(=)" "p.(=)" "" "0000996534" "00024294" "30" "1597" "7" "1597" "7" "c.1597+7A>G" "r.(=)" "p.(=)" "" "0000996535" "00024294" "50" "1424" "0" "1424" "0" "c.1424del" "r.(?)" "p.(Pro475Argfs*9)" "" "0000996536" "00024294" "50" "1418" "0" "1418" "0" "c.1418G>A" "r.(?)" "p.(Gly473Glu)" "" "0000996537" "00024294" "30" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Gly422Asp)" "" "0000996538" "00024294" "30" "1093" "0" "1093" "0" "c.1093G>A" "r.(?)" "p.(Ala365Thr)" "" "0001014358" "00024294" "70" "1340" "0" "1340" "0" "c.1340C>T" "r.(?)" "p.(Ser447Phe)" "" "0001036383" "00024294" "30" "1597" "407" "1597" "407" "c.1597+407G>C" "r.(=)" "p.(=)" "" "0001036384" "00024294" "30" "1486" "0" "1486" "0" "c.1486A>G" "r.(?)" "p.(Ile496Val)" "" "0001036385" "00024294" "30" "1154" "0" "1154" "0" "c.1154A>G" "r.(?)" "p.(His385Arg)" "" "0001036386" "00024294" "30" "517" "10" "517" "10" "c.517+10del" "r.(=)" "p.(=)" "" "0001036387" "00024294" "30" "415" "-1087" "415" "-1087" "c.415-1087G>A" "r.(=)" "p.(=)" "" "0001036388" "00024294" "30" "160" "396" "160" "396" "c.160+396G>A" "r.(=)" "p.(=)" "" "0001047557" "00024294" "70" "1424" "0" "1424" "0" "c.1424del" "r.(?)" "p.(Pro475ArgfsTer9)" "" "0001052668" "00024294" "70" "424" "0" "424" "0" "c.424C>G" "r.(?)" "p.(Leu142Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000107130" "0000172887" "0000107131" "0000172888" "0000107132" "0000172889" "0000107133" "0000172890" "0000107134" "0000172891" "0000107135" "0000172892" "0000107136" "0000172893" "0000107137" "0000172894" "0000107138" "0000172895" "0000297145" "0000659769" "0000449518" "0000959739" "0000449533" "0000959755" "0000449534" "0000959756"