### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CAMK2D) # 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}}" "CAMK2D" "calcium/calmodulin-dependent protein kinase II delta" "4" "q26" "unknown" "NC_000004.11" "UD_132465763553" "" "https://www.LOVD.nl/CAMK2D" "" "1" "1462" "817" "607708" "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" "2026-02-06 14:37:37" "00006" "2026-02-06 15:06:49" ## 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}}" "00025915" "CAMK2D" "transcript variant 12 (removed from reference sequence)" "000" "NM_001321571.1" "" "NP_001308500.1" "" "" "" "-859" "5115" "1602" "1" "1" "00006" "2024-02-16 20:31:12" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CAMK2D" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00448135" "" "" "" "1" "" "00006" "{PMID:Rigter 2024:38272033}, {DOI:Rigter 2024:10.1016/j.ajhg.2023.12.016}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "Belgium" "" "0" "" "" "" "Pat1" "00448136" "" "" "" "1" "" "00006" "{PMID:Rigter 2024:38272033}, {DOI:Rigter 2024:10.1016/j.ajhg.2023.12.016}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "" "" "0" "" "" "" "Pat2" "00448137" "" "" "" "1" "" "00006" "{PMID:Rigter 2024:38272033}, {DOI:Rigter 2024:10.1016/j.ajhg.2023.12.016}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "Ethiopia" "" "0" "" "" "" "Pat3" "00448138" "" "" "" "1" "" "00006" "{PMID:Rigter 2024:38272033}, {DOI:Rigter 2024:10.1016/j.ajhg.2023.12.016}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "" "" "0" "" "" "" "Pat4" "00448139" "" "" "" "1" "" "00006" "{PMID:Rigter 2024:38272033}, {DOI:Rigter 2024:10.1016/j.ajhg.2023.12.016}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "Netherlands" "" "0" "" "" "" "Pat5" "00448140" "" "" "" "2" "" "00006" "{PMID:Rigter 2024:38272033}, {DOI:Rigter 2024:10.1016/j.ajhg.2023.12.016}" "2-generation family, 2 affected sibs (brother/sister), similarly affected father" "M" "" "" "" "0" "" "" "" "FamPat6" "00448141" "" "" "00448140" "1" "" "00006" "{PMID:Rigter 2024:38272033}, {DOI:Rigter 2024:10.1016/j.ajhg.2023.12.016}" "sister" "F" "" "" "" "0" "" "" "" "FamPat7" "00448142" "" "" "" "1" "" "00006" "{PMID:Rigter 2024:38272033}, {DOI:Rigter 2024:10.1016/j.ajhg.2023.12.016}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "" "" "0" "" "" "" "Pat8" "00466472" "" "" "" "1" "" "00006" "{PMID:Tolmacheva 2023:37372357}, {DOI:Tolmacheva 2023:10.3390/genes14061177}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Russia" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00448135" "05611" "00448136" "05611" "00448137" "05611" "00448138" "05611" "00448139" "05611" "00448140" "05611" "00448141" "05611" "00448142" "05611" "00466472" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05611 ## Count = 9 "{{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}}" "0000337350" "05611" "00448135" "00006" "Isolated (sporadic)" "11y" "height +1.69SD; mild developmental delay/intellectual disability; delayed walking; speech delay; dysmorphic facial features; skeletal anomalies hands/feet; no dilated cardiomyopathy; abnormal muscle tone; seizures; autism spectrum disorder; no digestive problems; visual anomalies; no urogenital/kidney anomalies; MRI brain enlarged ventricles; EEG abnormal" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000337351" "05611" "00448136" "00006" "Isolated (sporadic)" "2y" "height -1.14SD; moderate-severe developmental delay/intellectual disability; delayed walking; no speech; dysmorphic facial features; skeletal anomalies spine; dilated cardiomyopathy, cardiac transplantation; abnormal muscle tone; no seizures; autism spectrum disorder; digestive problems, GJ tube feeding; visual anomalies; no urogenital/kidney anomalies; MRI brain enlarged ventricles; EEG normal" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000337352" "05611" "00448137" "00006" "Isolated (sporadic)" "4y" "height -2.86SD; severe developmental delay/intellectual disability; delayed walking; no speech; dysmorphic facial features; skeletal anomalies thorax; dilated cardiomyopathy, planned cardiac transplantation; abnormal muscle tone; no seizures; behavioral anomalies; digestive problems, NJ feeding; urogenital/kidney anomalies; MRI brain hemorrhagic infarcts" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000337353" "05611" "00448138" "00006" "Isolated (sporadic)" "6y" "height -1.37SD; severe developmental delay/intellectual disability; delayed walking; speech delay, vocalizations only; dysmorphic facial features; skeletal anomalies hands, feet, thorax, palate; no dilated cardiomyopathy; abnormal muscle tone; no seizures; behavioral anomalies; digestive problems, chronic constipation; visual anomalies; no urogenital/kidney anomalies; MRI brain enlarged ventricles; EEG abnormal" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000337354" "05611" "00448139" "00006" "Isolated (sporadic)" "20y" "height -3.28SD; profound developmental delay/intellectual disability; delayed walking; no speech; dysmorphic facial features; skeletal anomalies feet, thorax; severe dilated cardiomyopathy, cardiac transplantation impossible; ventricular septal defect repaired, patent ductus arteriosus; abnormal muscle tone; seizures; autism spectrum disorder; digestive problems, tube feeding, EoE, dysphagia, megacolon; visual anomalies; urogenital/kidney anomalies; MRI brain decreased brain volume" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000337355" "05611" "00448140" "00006" "Familial, autosomal dominant" "12y" "height -0.94SD; mild developmental delay/intellectual disability; delayed walking; speech delay, mixed receptive-expressive language disorder; dysmorphic facial features; skeletal anomalies hands; dilated cardiomyopathy, cardiac transplantation; normal muscle tone; no seizures; attention deficit/hyperactivity disorder" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000337356" "05611" "00448141" "00006" "Familial, autosomal dominant" "17y" "height -2.1SD; severe developmental delay/intellectual disability; delayed walking; no speech; dysmorphic facial features; skeletal anomalies hands, feet, palate; severe dilated cardiomyopathy; partial anomalous pulmonary venous return repaired, atrial septal defect; normal muscle tone; no seizures; autism spectrum disorder; visual anomalies" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000337357" "05611" "00448142" "00006" "Isolated (sporadic)" "35d" "height -1.14SD; no dysmorphic facial features; no skeletal anomalies; severe dilated cardiomyopathy; normal muscle tone; no seizures; no digestive problems; no urogenital/kidney anomalies" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000351834" "00198" "00466472" "00006" "Isolated (sporadic)" "03y" "see paper; ..., 31wg-ECG prenatal moderate dilatation of left ventricle, decreased contractility; birth 39w-Cesarean section, weight 2830g, length 49cm, OFC 35cm; 2h-critically unstable; 21d-pyloric stenosis (surgical correction); left ventricle noncompaction; frontal bossing, underfolded cleft helix, prominent superior crus of antihelix, serpiginous left antihelix stem, single transverse palmar crease right hand, dilated cardiomyopathy; central nervous system depression, decreasing periods wakefulness/response to examination; decreased general motor activity, muscle hypotension, delayed unconditional reflex activity; delayed motor development" "" "" "0d" "" "" "" "" "" "" "intellectual disability, cardiomyopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000449709" "00448135" "1" "00006" "00006" "2024-02-18 13:47:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449710" "00448136" "1" "00006" "00006" "2024-02-18 13:47:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449711" "00448137" "1" "00006" "00006" "2024-02-18 13:47:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449712" "00448138" "1" "00006" "00006" "2024-02-18 13:47:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449713" "00448139" "1" "00006" "00006" "2024-02-18 13:47:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449714" "00448140" "1" "00006" "00006" "2024-02-18 13:47:08" "00006" "2025-09-05 16:16:03" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "WES" "0000449715" "00448141" "1" "00006" "00006" "2024-02-18 13:47:08" "00006" "2025-09-05 16:20:37" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "WES" "0000449716" "00448142" "1" "00006" "00006" "2024-02-18 13:47:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000468135" "00466472" "1" "00006" "00006" "2025-09-05 16:36:19" "" "" "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 = 11 "{{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}}" "0000960152" "0" "70" "4" "114530307" "114530307" "subst" "0" "00006" "CAMK2D_000006" "g.114530307C>A" "" "{PMID:Rigter 2024:38272033}, {DOI:Rigter 2024:10.1016/j.ajhg.2023.12.016}" "" "" "ACMG PVS1, PS2, PM2" "De novo" "" "" "0" "" "" "g.113609151C>A" "SCV002103284" "pathogenic (dominant)" "ACMG" "0000960153" "0" "70" "4" "114530347" "114530347" "subst" "0" "00006" "CAMK2D_000007" "g.114530347C>T" "" "{PMID:Rigter 2024:38272033}, {DOI:Rigter 2024:10.1016/j.ajhg.2023.12.016}" "" "" "ACMG PS2, PS3, PM2, PP3; loss-of-function varaint (in vitro analysis)" "De novo" "" "" "0" "" "" "g.113609191C>T" "SCV002103285" "pathogenic (dominant)" "ACMG" "0000960154" "0" "70" "4" "114458598" "114458598" "subst" "0" "00006" "CAMK2D_000005" "g.114458598G>A" "" "{PMID:Rigter 2024:38272033}, {DOI:Rigter 2024:10.1016/j.ajhg.2023.12.016}" "" "" "ACMG PS2, PS3, PM2, PP3; gain-of-function varaint (in vitro analysis)" "De novo" "" "" "0" "" "" "g.113537442G>A" "SCV002103286" "pathogenic (dominant)" "ACMG" "0000960155" "0" "70" "4" "114438787" "114438787" "subst" "0" "00006" "CAMK2D_000004" "g.114438787C>T" "" "{PMID:Rigter 2024:38272033}, {DOI:Rigter 2024:10.1016/j.ajhg.2023.12.016}" "" "" "ACMG PS2, PS3, PM2, PP3; gain-of-function varaint (in vitro analysis)" "De novo" "" "" "0" "" "" "g.113517631C>T" "SCV003799177" "pathogenic (dominant)" "ACMG" "0000960156" "0" "70" "4" "114435068" "114435068" "subst" "0" "00006" "CAMK2D_000003" "g.114435068T>G" "" "{PMID:Rigter 2024:38272033}, {DOI:Rigter 2024:10.1016/j.ajhg.2023.12.016}" "" "" "ACMG PS2, PS3, PM1, PM2, PP3; gain-of-function varaint (in vitro analysis)" "De novo" "" "" "0" "" "" "g.113513912T>G" "SCV002103287" "pathogenic (dominant)" "" "0000960157" "10" "70" "4" "114435065" "114435065" "subst" "0" "00006" "CAMK2D_000002" "g.114435065C>T" "" "{PMID:Rigter 2024:38272033}, {DOI:Rigter 2024:10.1016/j.ajhg.2023.12.016}" "" "" "ACMG PS3, PM1, PM2, PP1, PP3, PP4; gain-of-function varaint (in vitro analysis); patient carries a 16p11.2 microdeletion which may be associated with the neurodevelopmental features" "Germline" "yes" "" "0" "" "" "g.113513909C>T" "SCV002103288" "pathogenic (dominant)" "ACMG" "0000960158" "10" "70" "4" "114435065" "114435065" "subst" "0" "00006" "CAMK2D_000002" "g.114435065C>T" "" "{PMID:Rigter 2024:38272033}, {DOI:Rigter 2024:10.1016/j.ajhg.2023.12.016}" "" "" "ACMG PS3, PM1, PM2, PP1, PP3, PP4; gain-of-function varaint (in vitro analysis); patient carries a 16p11.2 microdeletion which may be associated with the neurodevelopmental features" "Germline" "yes" "" "0" "" "" "g.113513909C>T" "SCV002103288" "pathogenic (dominant)" "ACMG" "0000960159" "0" "70" "4" "114435016" "114435016" "subst" "0" "00006" "CAMK2D_000001" "g.114435016C>G" "" "{PMID:Rigter 2024:38272033}, {DOI:Rigter 2024:10.1016/j.ajhg.2023.12.016}" "" "" "ACMG PS2, PS3, PM1, PM2, PP3; dominant negative varaint (in vitro analysis)" "De novo" "" "" "0" "" "" "g.113513860C>G" "SCV002103289" "pathogenic (dominant)" "ACMG" "0001047743" "0" "90" "4" "114435065" "114435065" "subst" "0" "00006" "CAMK2D_000002" "g.114435065C>T" "" "{PMID:Tolmacheva 2023:37372357}, {DOI:Tolmacheva 2023:10.3390/genes14061177}" "" "" "" "De novo" "" "" "0" "" "" "g.113513909C>T" "" "pathogenic (dominant)" "" "0001051821" "0" "50" "4" "114376916" "114376916" "subst" "0" "01804" "CAMK2D_000008" "g.114376916T>G" "" "" "" "CAMK2D(NM_001321571.2):c.1597A>C (p.(Ile533Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051822" "0" "50" "4" "114582893" "114582893" "subst" "1.42489E-5" "01804" "CAMK2D_000009" "g.114582893G>A" "" "" "" "CAMK2D(NM_001321571.2):c.196C>T (p.(Arg66Cys))" "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 CAMK2D ## Count = 11 "{{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}}" "0000960152" "00025915" "70" "275" "1" "275" "1" "c.275+1G>T" "r.spl" "p.?" "" "0000960153" "00025915" "70" "236" "0" "236" "0" "c.236G>A" "r.(?)" "p.(Ser79Asn)" "" "0000960154" "00025915" "70" "416" "0" "416" "0" "c.416C>T" "r.(?)" "p.(Pro139Leu)" "" "0000960155" "00025915" "70" "628" "0" "628" "0" "c.628G>A" "r.(?)" "p.(Gly210Arg)" "" "0000960156" "00025915" "70" "821" "0" "821" "0" "c.821A>C" "r.(?)" "p.(Gln274Pro)" "" "0000960157" "00025915" "70" "824" "0" "824" "0" "c.824G>A" "r.(?)" "p.(Arg275His)" "" "0000960158" "00025915" "70" "824" "0" "824" "0" "c.824G>A" "r.(?)" "p.(Arg275His)" "" "0000960159" "00025915" "70" "873" "0" "873" "0" "c.873G>C" "r.(?)" "p.(Leu291Phe)" "" "0001047743" "00025915" "90" "824" "0" "824" "0" "c.824G>A" "r.(?)" "p.(Arg275His)" "" "0001051821" "00025915" "50" "1597" "0" "1597" "0" "c.1597A>C" "r.(?)" "p.(Ile533Leu)" "" "0001051822" "00025915" "50" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Arg66Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000449709" "0000960152" "0000449710" "0000960153" "0000449711" "0000960154" "0000449712" "0000960155" "0000449713" "0000960156" "0000449714" "0000960157" "0000449715" "0000960158" "0000449716" "0000960159" "0000468135" "0001047743"