### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CSNK2A1) # 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}}" "CSNK2A1" "casein kinase 2, alpha 1 polypeptide" "20" "p13" "unknown" "NC_000020.10" "UD_132118816104" "" "http://www.LOVD.nl/CSNK2A1" "" "1" "2457" "1457" "115440" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/CSNK2A1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-02-14 12:17:22" "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}}" "00025981" "CSNK2A1" "transcript variant 1" "003" "NM_177559.2" "" "NP_808227.1" "" "" "" "-393" "2443" "1176" "524482" "463338" "00006" "2025-02-14 12:16:42" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "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" "06507" "OCNDS" "Okur-Chung neurodevelopmental syndrome" "AD" "617062" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CSNK2A1" "06507" ## Individuals ## Do not remove or alter this header ## ## Count = 30 "{{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}}" "00324473" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00458252" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00462608" "" "" "" "1" "" "00006" "{PMID:Liu 2025:39915227}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "United States" "" "0" "" "" "" "patient" "00464039" "" "" "" "1" "" "00006" "{PMID:Okur 2016:27048600}" "" "F" "" "United States" "" "0" "" "" "" "Pat1" "00464040" "" "" "" "1" "" "00006" "{PMID:Okur 2016:27048600}" "" "F" "" "United States" "" "0" "" "" "" "Pat2" "00464041" "" "" "" "1" "" "00006" "{PMID:Okur 2016:27048600}" "" "F" "" "United States" "" "0" "" "" "" "Pat3" "00464042" "" "" "" "1" "" "00006" "{PMID:Okur 2016:27048600}" "" "F" "" "United States" "" "0" "" "" "" "Pat4" "00464043" "" "" "" "1" "" "00006" "{PMID:Okur 2016:27048600}" "" "F" "" "United States" "" "0" "" "" "" "Pat5" "00464044" "" "" "" "1" "" "00006" "{PMID:Chiu 2018:29240241}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Hong Kong" "" "0" "" "" "" "Pat1" "00464045" "" "" "" "1" "" "00006" "{PMID:Chiu 2018:29240241}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Netherlands" "" "0" "" "" "" "Pat2" "00464046" "" "" "" "1" "" "00006" "{PMID:Chiu 2018:29240241}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Netherlands" "" "0" "" "" "" "Pat3" "00464047" "" "" "" "1" "" "00006" "{PMID:Chiu 2018:29240241}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Netherlands" "" "0" "" "" "" "Pat4" "00464048" "" "" "" "1" "" "00006" "{PMID:Chiu 2018:29240241}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "France" "" "0" "" "" "" "Pat5" "00464049" "" "" "" "1" "" "00006" "{PMID:Chiu 2018:29240241}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "yes" "France" "" "0" "" "" "Tunisia" "Pat6" "00464050" "" "" "" "1" "" "00006" "{PMID:Chiu 2018:29240241}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "France" "" "0" "" "" "" "Pat7" "00464051" "" "" "" "1" "" "00006" "{PMID:Chiu 2018:29240241}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "France" "" "0" "" "" "" "Pat8" "00464052" "" "" "" "1" "" "00006" "{PMID:Trinh 2017:28725024}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "Germany" "" "0" "" "" "" "patient" "00464053" "" "" "" "1" "" "00006" "{PMID:Owen 2018:29383814}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat1" "00464054" "" "" "" "1" "" "00006" "{PMID:Owen 2018:29383814}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat2" "00464055" "" "" "" "1" "" "00006" "{PMID:Owen 2018:29383814}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat3" "00464056" "" "" "" "1" "" "00006" "{PMID:Owen 2018:29383814}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat4" "00464057" "" "" "" "1" "" "00006" "{PMID:Owen 2018:29383814}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat5" "00464058" "" "" "" "1" "" "00006" "{PMID:Owen 2018:29383814}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat6" "00464059" "" "" "" "1" "" "00006" "{PMID:Owen 2018:29383814}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat7" "00464060" "" "" "" "1" "" "00006" "{PMID:Owen 2018:29383814}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat8" "00464061" "" "" "" "1" "" "00006" "{PMID:Owen 2018:29383814}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat9" "00464062" "" "" "" "1" "" "00006" "{PMID:Owen 2018:29383814}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat10" "00464063" "" "" "" "1" "" "00006" "{PMID:Owen 2018:29383814}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat11" "00464073" "" "" "" "1" "" "00006" "{PMID:Akahira-Azuma 2018:29619237}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "Japan" "" "0" "" "" "" "patient" "00464617" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "321367" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 30 "{{individualid}}" "{{diseaseid}}" "00324473" "00198" "00458252" "04270" "00462608" "00198" "00464039" "05611" "00464040" "05611" "00464041" "05611" "00464042" "05611" "00464043" "05611" "00464044" "05611" "00464045" "05611" "00464046" "05611" "00464047" "05611" "00464048" "05611" "00464049" "05611" "00464050" "05611" "00464051" "05611" "00464052" "05611" "00464053" "05611" "00464054" "05611" "00464055" "05611" "00464056" "05611" "00464057" "05611" "00464058" "05611" "00464059" "05611" "00464060" "05611" "00464061" "05611" "00464062" "05611" "00464063" "05611" "00464073" "06507" "00464617" "06507" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04270, 05611, 06507 ## Count = 30 "{{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}}" "0000243016" "00198" "00324473" "01807" "Unknown" "" "Iris coloboma (HP:0000612); Global developmental delay (HP:0001263); Congenital microcephaly (HP:0011451)" "" "" "" "" "" "" "" "" "" "" "" "0000346688" "04270" "00458252" "03544" "Isolated (sporadic)" "" "HP:0001256, HP:0001250, HP:0000750, HP:0000252" "" "" "" "" "" "" "" "" "OCNDS" "" "" "0000350086" "00198" "00462608" "00006" "Di-genic" "03y06m" "see paper; ..., 3y-global developmental delay, postnatal growth failure, feeding difficulties, self‐injurious behaviors, recurrent infections; birth weight 3.6kg (55th), height 52.1cm (79th), OFC 34.9cm (32th); 18m-progressive growth failure (height 72.6cm (2.6th), weight 8.7kg (0.2th), OFC 46cm (8.3th), global developmental delay, mild bilateral conductive hearing loss due to recurrent otitis media, hypertelorism, epicanthal folds, flat nasal bridge, mild cupid\'s bow lip, mild generalized hypotonia" "" "" "" "" "" "" "" "" "DMD;OCNDS" "global developmental delay, growth failure, dysmorphic facial features" "" "0000350100" "05611" "00464039" "00006" "Isolated (sporadic)" "6y" "see paper; ... 35w-birth weight 1796 g (3-10%), length 44cm (3-10%), OFC 29 cm (<3%); 3y-OFC 46.4 cm (<3%); intellectual disability; developmental delay; 15m-sit; 28m-walk; after 2y-speech 200 words, short sentences; hypotonia, tantrums, attention deficit/hyperactivity disorder features, ataxia; MRI brain pachygria, microcephaly; hypertelorism, low set folded ears, high palate, micrognathia, ptosis, high arched eyebrows, 5th finger clinodactyly, brachydactyly, unilateral single palmar crease; no musculo-skeletal anomalies; no gastrointestinal issues; no immunologic anomalies; birth umbilical hernia; palmar erythema, cutis marmorata" "" "" "" "" "" "" "" "" "OCNDS" "neurodevelopmental delay" "" "0000350101" "05611" "00464040" "00006" "Isolated (sporadic)" "4.5y" "see paper; ..., birth weight 2551 g (3-10%), length 44.5 cm (<3%); 4.5y-OFC 48 cm (12%); intellectual disability; developmental delay; 1y-sit; 2y-walk; 22m-speech 2 words, still impaired speech ability; past hypotonia volatile tantrums; MRI brain relative underdevelopment left operculum, some secondary enlargement Sylvian fissure; round face, epicanthal folds, slightly low set ears, cupped ears that protrude, high palate, thin upper lip, generous tongue that protrudes, thin hair, mild synophrys, arched eyebrows; wears leg braces for gait abnormality; failure to thrive, G-tube, severe gastroesophageal reflux disease. silent aspiration, pharyngeal dysphagia issues; hypogammaglobulinemia requiring intravenous immunoglobulin; polyhydramnios, laryngomalacia at birth, dry skin, labial adhesions, intermittent esotropia" "" "" "" "" "" "" "" "" "OCNDS" "neurodevelopmental delay" "" "0000350102" "05611" "00464041" "00006" "Isolated (sporadic)" "4y" "see paper; ..., birth weight 2950 g (10-25%), length 50 cm (50-75%), OFC 32 cm (5-10%); 4y-OFC 46 cm (<3%); intellectual disability; developmental delay; 12m-sit; 4y-not walking; 4y-no speech; clapping, hand-flapping, atonic seizures, ataxia, sleep problems; MRI brain simple gyral cortication, no significant structural defects; broad nasal bridge, short upturned nose, epicanthal folds; no musculo-skeletal anomalies; constipation; no immunologic anomalies; heat intolerance, mild hearing loss" "" "" "" "" "" "" "" "" "OCNDS" "neurodevelopmental delay" "" "0000350103" "05611" "00464042" "00006" "Isolated (sporadic)" "13y" "see paper; ..., birth weight 3486 g (50-75%), length 48.2 cm (25-50%), OFC normal; 13y_OFC 55 cm (75-90%); intellectual disability (IQ60); developmental delay; 10m-sit; 16m-walk; 2y-normal speech; hypotonia, attention deficit/hyperactivity disorder, sleep problems; MRI brain normal; no dysmorphic features; scoliosis (19 degrees); failure to thrive, G-tube, constipation; mild IgA deficiency; easy fatigability, inguinal hernia, carnitine deficiency" "" "" "" "" "" "" "" "" "OCNDS" "neurodevelopmental delay" "" "0000350104" "05611" "00464043" "00006" "Isolated (sporadic)" "2y" "see paper; ..., birth weight 3345 g (25-50%); 2y-OFC 44.5 cm (<3%); developmental delay; 8m-sit; 20m-walk; 1y-speech 2 words; hypotonia, seizures or severe breath holding spell, EEG normal; MRI brain normal; extra fold in helix, inverted epicanthal folds, broad great toes; loose joints; constipation/diarrhea, delayed and disorganized oral preparatory skills, delayed swallow initiation; frequent upper respiratory infections, low IgG; short stature; mild iris coloboma vs. anisocoria; blue sclera; hyperpigmented plagues on posterior scalp" "" "" "" "" "" "" "" "" "OCNDS" "neurodevelopmental delay" "" "0000350105" "05611" "00464044" "00006" "Isolated (sporadic)" "8y" "see paper; ..., dysmorphism, developmental delay, multisystem involvement; mild developmental language delay, hyperlaxity joints, dysmorphic facial features, low set hairline, widow’s peak, thick eyebrows, unilateral partial ptosis, thick lips, wide opened mouth, relatively thick fingers" "" "" "" "" "" "" "" "" "OCNDS" "neurodevelopmental delay" "" "0000350106" "05611" "00464045" "00006" "Isolated (sporadic)" "4y" "see paper; ..., dysmorphism, developmental delay, multisystem involvement; microcephaly, unilateral partial ptosis, dysmorphic facial features, straight horizontal eyebrows, broad nasal bridge" "" "" "" "" "" "" "" "" "OCNDS" "neurodevelopmental delay" "" "0000350107" "05611" "00464046" "00006" "Isolated (sporadic)" "14y" "see paper; ..., dysmorphism, developmental delay, multisystem involvement; intellectual disability, autism spectrum disorder, hypotonia, dyspraxia" "" "" "" "" "" "" "" "" "OCNDS" "neurodevelopmental delay" "" "0000350108" "05611" "00464047" "00006" "Isolated (sporadic)" "2.5y" "see paper; ..., dysmorphism, developmental delay, multisystem involvement; stereotypic movements hands/feet, dysmorphic facial features, plagiocephaly, flat face, almond-shaped eyes, deep nasal bridge, retrognathia, low set ears" "" "" "" "" "" "" "" "" "OCNDS" "neurodevelopmental delay" "" "0000350109" "05611" "00464048" "00006" "Isolated (sporadic)" "8y" "see paper; ..., dysmorphism, developmental delay, multisystem involvement; global developmental delay, language delay" "" "" "" "" "" "" "" "" "OCNDS" "neurodevelopmental delay" "" "0000350110" "05611" "00464049" "00006" "Isolated (sporadic)" "2y" "see paper; ..., dysmorphism, multisystem involvement; multiple congenital anomaly, global developmental delay" "" "" "" "" "" "" "" "" "OCNDS" "neurodevelopmental delay" "" "0000350111" "05611" "00464050" "00006" "Isolated (sporadic)" "14y" "see paper; ..., dysmorphism, multisystem involvement; mild developmental language delay, bilateral epicanthus, small mouth, thin upper lip, large central upper incisors" "" "" "" "" "" "" "" "" "OCNDS" "neurodevelopmental delay" "" "0000350112" "05611" "00464051" "00006" "Isolated (sporadic)" "4y" "see paper; ..., failure to thrive, developmental delay, dysmorphism, prominent forehead, arched eyebrows, downslanting palpebral fissures, almond-shaped eyes, low set ears, retronagthia, high-arched palate, bilateral single palmer crease, bilateral 5th finger clinodactyly, bilateral hypoplasia 5th toe nails" "" "" "" "" "" "" "" "" "OCNDS" "neurodevelopmental delay" "" "0000350113" "05611" "00464052" "00006" "Isolated (sporadic)" "07y" "see paper; ..., 35w+5 birth weight 3220 g (+1.4 SD), length 50.0 cm (+0.8 SD), 32.0 cm (-0.7 SD); 14d-nasogastric tube; 2y-microcephaly, OFC -2.8 SD; delayed motor development, 22m-walk; delayed speech development" "" "" "" "" "" "" "" "" "OCNDS" "neurodevelopmental disorder" "" "0000350114" "05611" "00464053" "00006" "Isolated (sporadic)" "6.1y" "see paper; ..., birth weight 2.27 (SD-2.1); 5.6y-weight 16.2kg (SD-2.0), height 105.8cm (SD-1.9), OFC 49.5cm (SD-1.5); 6m-sit; 22m-walk; 12m-first words, 24m-lost speech; no behavioral issues; no neonatal hypotonia; swallowing difficulties; no seizures; ECG not tolerated; MRI brain normal; asthma, flexion deformity right 2nd-3rd fingers, umbilical hernia, pes planus, gastro-esophageal reflux disease" "" "" "" "" "" "" "" "" "OCNDS" "neurodevelopmental delay" "" "0000350115" "05611" "00464054" "00006" "Isolated (sporadic)" "11.1y" "see paper; ..., birth weight 2.88 (SD-1.9); 11.1y-weight 17.6kg (SD-4.7), height 111cm (SD-5.1), OFC 51.5cm (SD-0.9); 7m-sit; 24m-walk; 36m-first words; no behavioral issues; no neonatal hypotonia; no swallowing difficulties; no seizures; Tetralogy of Fallot; 8m-severe infantile scoliosis" "" "" "" "" "" "" "" "" "OCNDS" "neurodevelopmental delay" "" "0000350116" "05611" "00464055" "00006" "Isolated (sporadic)" "10.7y" "see paper; ..., birth weight 3.69 (SD-0.8); 9.3y-weight 38.8kg (SD1.4), height 124.5cm (SD-1.7), OFC 56.0cm (SD2.50); 30m-walk; 60m-first words; challenging behaviors, autistic traits, anxiety; neonatal hypotonia; no swallowing difficulties; no seizures; no cardiac anomalies; MRI brain normal; hypermobile joints, painful leg cramps" "" "" "" "" "" "" "" "" "OCNDS" "neurodevelopmental delay" "" "0000350117" "05611" "00464056" "00006" "Isolated (sporadic)" "10.9y" "see paper; ..., birth weight 1.84 (SD-0.5); 2.1y-weight 13.3kg (SD-0.6), height 89.6cm (SD-1.4), OFC 48.0cm (SD-0.9); 18m-sit; 30m-walk; 18m-first words; autistic traits, mannerisms and obsessions, anxiety; neonatal hypotonia; swallowing difficulties; no seizures; no cardiac anomalies" "" "" "" "" "" "" "" "" "OCNDS" "neurodevelopmental delay" "" "0000350118" "05611" "00464057" "00006" "Isolated (sporadic)" "10.0y" "see paper; ..., birth weight 3.57 (SD+1.0); 5.5y-weight 19kg (SD0.0), height 108cm (SD-0.6), OFC 48.3cm (SD-1.9); 12m-sit; 18m-walk; 36m-first words; passive, easily frustrated; neonatal hypotonia; swallowing difficulties, slow eate, chokes easily; no seizures; large atrial septal defect; tongue tie" "" "" "" "" "" "" "" "" "OCNDS" "neurodevelopmental delay" "" "0000350119" "05611" "00464058" "00006" "Isolated (sporadic)" "8.0y" "see paper; ..., birth weight 2.78 (SD+0.4); 3.3y-weight 12.1kg (SD-1.6), height 85cm (SD-2.8), OFC 46.5cm (SD-1.5); 6m-sit; 24m-walk; 48m-first words; no behavioral issues; no neonatal hypotonia; no swallowing difficulties; no seizures; no cardiac anomalies; MRI brain normal; absent left sided ear canal" "" "" "" "" "" "" "" "" "OCNDS" "neurodevelopmental delay" "" "0000350120" "05611" "00464059" "00006" "Isolated (sporadic)" "7.3y" "see paper; ..., birth weight 3.81 (SD+0.8); 5.8y-weight 16.2kg (SD-1.5), height 102.7cm (SD-2.1), OFC 50.0cm (SD-0.5); 15m-sit; 49m-walk; 48m-first words; autistic traits, repetitive behaviors, verbal ticks, motor ticks; neonatal hypotonia; no swallowing difficulties; three febrile seizures; no cardiac anomalies; MRI brain normal; post-axial polydactyly" "" "" "" "" "" "" "" "" "OCNDS" "neurodevelopmental delay" "" "0000350121" "05611" "00464060" "00006" "Isolated (sporadic)" "10.9y" "see paper; ..., birth weight 3.02 (SD-0.8); 7.7y-weight 21.8kg (SD-0.2), height 113.4cm (SD-1.3), OFC 49.2cm (SD-1.9); 6m-sit; 40m-walk; 96m-first words; no behavioral issues; no neonatal hypotonia; no swallowing difficulties; no seizures; no cardiac anomalies; MRI brain normal; eczema" "" "" "" "" "" "" "" "" "OCNDS" "neurodevelopmental delay" "" "0000350122" "05611" "00464061" "00006" "Isolated (sporadic)" "18.3y" "see paper; ..., birth weight 2.92 (SD-1.0); 7.3y-weight 17.6kg (SD-2.5), height 110cm (SD-2.5), OFC 50.5cm (SD-1.2); 11m-sit; 24m-walk; no behavioral issues; neonatal hypotonia; no swallowing difficulties; possible absence seizures; no cardiac anomalies; mild cutaneous syndactyly digits 1-4 in hands" "" "" "" "" "" "" "" "" "OCNDS" "neurodevelopmental delay" "" "0000350123" "05611" "00464062" "00006" "Isolated (sporadic)" "18.7y" "see paper; ..., birth weight 2.80 (SD-1.3); 10.0y-weight 24.8kg (SD-1.7), height 129cm (SD-1.4), OFC 49.5cm (SD-2.1); 24m-sit; 48m-walk; 72m-first words; no behavioral issues; neonatal hypotonia; no swallowing difficulties; no seizures; no cardiac anomalies; MRI brain delayed myelination; duplex right renal collecting system" "" "" "" "" "" "" "" "" "OCNDS" "neurodevelopmental delay" "" "0000350124" "05611" "00464063" "00006" "Isolated (sporadic)" "6.0y" "see paper; ..., birth weight 2.70 (SD-0.7); 5.3y-weight 15.3kg (SD-1.6), height 100.3cm (SD-2.2), OFC 49.4cm (SD-1.1); 10m-sit; 27m-walk; 14m-first words; autistic traits, self-injurious (biting), tantrums; neonatal hypotonia; no swallowing difficulties; no seizures; atrial septal defect; pes planus" "" "" "" "" "" "" "" "" "OCNDS" "neurodevelopmental delay" "" "0000350135" "06507" "00464073" "00006" "Isolated (sporadic)" "08y04m" "see paper; ..., 40w+6 birth, birth weight 2740 g, length 47.5 cm, OFC 33.0 cm; delayed developmental milestones, 4m-head control, 12m-sit; 1y4m-hypotonia, decreased muscle bulk, non-verbal, MRI brain reduced anterior pituitary gland/delayed myelination; 2y-10m-distinct facial features, synophrys, hypertrichosis, down-slanting palpebral fissures, bulbous nose; severe growth retardation, relative macrocephaly, friendly, hyperactive behavior, intellectual disability" "" "" "" "" "" "" "" "" "OCNDS" "Okur-Chung syndrome" "" "0000350604" "06507" "00464617" "01164" "Isolated (sporadic)" "06y" "EEG abnormality, Neurodevelopmental delay, Poor or absent speech" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 30 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000325663" "00324473" "1" "01807" "01807" "2020-12-14 13:36:01" "" "" "SEQ" "DNA" "" "" "0000459874" "00458252" "1" "03544" "03544" "2024-12-11 06:46:15" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000464241" "00462608" "1" "00006" "00006" "2025-02-14 12:01:59" "00006" "2025-02-14 12:12:54" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "WES" "0000465670" "00464039" "1" "00006" "00006" "2025-02-14 17:50:49" "" "" "SEQ-NG" "DNA" "" "WES" "0000465671" "00464040" "1" "00006" "00006" "2025-02-14 17:50:49" "" "" "SEQ-NG" "DNA" "" "WES" "0000465672" "00464041" "1" "00006" "00006" "2025-02-14 17:50:49" "" "" "SEQ-NG" "DNA" "" "WES" "0000465673" "00464042" "1" "00006" "00006" "2025-02-14 17:50:49" "" "" "SEQ-NG" "DNA" "" "WES" "0000465674" "00464043" "1" "00006" "00006" "2025-02-14 17:50:49" "" "" "SEQ-NG" "DNA" "" "WES" "0000465675" "00464044" "1" "00006" "00006" "2025-02-14 18:11:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000465676" "00464045" "1" "00006" "00006" "2025-02-14 18:11:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000465677" "00464046" "1" "00006" "00006" "2025-02-14 18:11:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000465678" "00464047" "1" "00006" "00006" "2025-02-14 18:11:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000465679" "00464048" "1" "00006" "00006" "2025-02-14 18:11:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000465680" "00464049" "1" "00006" "00006" "2025-02-14 18:11:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000465681" "00464050" "1" "00006" "00006" "2025-02-14 18:11:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000465682" "00464051" "1" "00006" "00006" "2025-02-14 18:11:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000465683" "00464052" "1" "00006" "00006" "2025-02-14 18:49:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000465684" "00464053" "1" "00006" "00006" "2025-02-14 19:45:17" "" "" "SEQ-NG" "DNA" "" "WES" "0000465685" "00464054" "1" "00006" "00006" "2025-02-14 19:45:17" "" "" "SEQ-NG" "DNA" "" "WES" "0000465686" "00464055" "1" "00006" "00006" "2025-02-14 19:45:17" "" "" "SEQ-NG" "DNA" "" "WES" "0000465687" "00464056" "1" "00006" "00006" "2025-02-14 19:45:17" "" "" "SEQ-NG" "DNA" "" "WES" "0000465688" "00464057" "1" "00006" "00006" "2025-02-14 19:45:17" "" "" "SEQ-NG" "DNA" "" "WES" "0000465689" "00464058" "1" "00006" "00006" "2025-02-14 19:45:17" "" "" "SEQ-NG" "DNA" "" "WES" "0000465690" "00464059" "1" "00006" "00006" "2025-02-14 19:45:17" "" "" "SEQ-NG" "DNA" "" "WES" "0000465691" "00464060" "1" "00006" "00006" "2025-02-14 19:45:17" "" "" "SEQ-NG" "DNA" "" "WES" "0000465692" "00464061" "1" "00006" "00006" "2025-02-14 19:45:17" "" "" "SEQ-NG" "DNA" "" "WES" "0000465693" "00464062" "1" "00006" "00006" "2025-02-14 19:45:17" "" "" "SEQ-NG" "DNA" "" "WES" "0000465694" "00464063" "1" "00006" "00006" "2025-02-14 19:45:17" "" "" "SEQ-NG" "DNA" "" "WES" "0000465704" "00464073" "1" "00006" "00006" "2025-02-21 11:32:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000466261" "00464617" "1" "01164" "01164" "2025-04-03 11:34:56" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000466261" "CSNK2A1" ## 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 = 59 "{{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}}" "0000268606" "0" "90" "20" "485826" "485826" "subst" "0" "02329" "CSNK2A1_000002" "g.485826T>C" "" "" "" "CSNK2A1(NM_177559.3):c.149A>G (p.Y50C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.505182T>C" "" "pathogenic" "" "0000345321" "0" "50" "20" "489117" "489117" "subst" "0" "02327" "CSNK2A1_000004" "g.489117C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.508473C>T" "" "VUS" "" "0000347468" "0" "90" "20" "472926" "472926" "subst" "4.06273E-6" "02327" "CSNK2A1_000003" "g.472926T>C" "" "" "" "CSNK2A1(NM_177559.2):c.593A>G (p.K198R), CSNK2A1(NM_177559.3):c.593A>G (p.K198R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.492282T>C" "" "pathogenic" "" "0000347704" "0" "70" "20" "489195" "489195" "subst" "0" "02327" "CSNK2A1_000005" "g.489195T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.508551T>C" "" "likely pathogenic" "" "0000569876" "0" "50" "20" "464725" "464725" "subst" "0" "01804" "CSNK2A1_000006" "g.464725A>C" "" "" "" "CSNK2A1(NM_001895.4):c.1061-5T>G, CSNK2A1(NM_177559.3):c.1061-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.484081A>C" "" "VUS" "" "0000569884" "0" "90" "20" "472926" "472926" "subst" "4.06273E-6" "02325" "CSNK2A1_000003" "g.472926T>C" "" "" "" "CSNK2A1(NM_177559.2):c.593A>G (p.K198R), CSNK2A1(NM_177559.3):c.593A>G (p.K198R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.492282T>C" "" "pathogenic" "" "0000569885" "0" "70" "20" "472995" "472995" "subst" "0" "02325" "CSNK2A1_000009" "g.472995T>A" "" "" "" "CSNK2A1(NM_001362770.2):c.524A>T (p.D175V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.492351T>A" "" "likely pathogenic" "" "0000569910" "0" "70" "20" "479897" "479900" "del" "0" "01804" "CSNK2A1_000010" "g.479897_479900del" "" "" "" "CSNK2A1(NM_177559.2):c.366_366+3del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.499253_499256del" "" "likely pathogenic" "" "0000569924" "0" "70" "20" "485826" "485826" "subst" "0" "02327" "CSNK2A1_000002" "g.485826T>C" "" "" "" "CSNK2A1(NM_177559.3):c.149A>G (p.Y50C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.505182T>C" "" "likely pathogenic" "" "0000618194" "0" "70" "20" "468212" "468212" "subst" "0" "02327" "CSNK2A1_000012" "g.468212G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.487568G>A" "" "likely pathogenic" "" "0000618195" "0" "70" "20" "470455" "470455" "subst" "0" "02327" "CSNK2A1_000013" "g.470455G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.489811G>C" "" "likely pathogenic" "" "0000618196" "0" "90" "20" "472926" "472926" "subst" "4.06273E-6" "01943" "CSNK2A1_000003" "g.472926T>C" "" "" "" "CSNK2A1(NM_177559.2):c.593A>G (p.K198R), CSNK2A1(NM_177559.3):c.593A>G (p.K198R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.492282T>C" "" "pathogenic" "" "0000618201" "0" "70" "20" "485833" "485833" "subst" "0" "02327" "CSNK2A1_000015" "g.485833C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.505189C>T" "" "likely pathogenic" "" "0000624167" "0" "50" "20" "478391" "478391" "subst" "0" "01943" "CSNK2A1_000014" "g.478391G>A" "" "" "" "CSNK2A1(NM_177559.2):c.400C>T (p.R134*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.497747G>A" "" "VUS" "" "0000658777" "0" "70" "20" "478426" "478426" "subst" "0" "02327" "CSNK2A1_000016" "g.478426T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.497782T>C" "" "likely pathogenic" "" "0000708799" "0" "70" "20" "470423" "470423" "subst" "0" "01807" "CSNK2A1_000018" "g.470423C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.489779C>G" "" "likely pathogenic" "" "0000809262" "0" "30" "20" "467035" "467035" "subst" "0.00011375" "02325" "CSNK2A1_000019" "g.467035C>T" "" "" "" "CSNK2A1(NM_001895.4):c.1045G>A (p.A349T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.486391C>T" "" "likely benign" "" "0000895354" "0" "30" "20" "464725" "464725" "subst" "0" "02325" "CSNK2A1_000006" "g.464725A>C" "" "" "" "CSNK2A1(NM_001895.4):c.1061-5T>G, CSNK2A1(NM_177559.3):c.1061-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.484081A>C" "" "likely benign" "" "0000895357" "0" "70" "20" "479895" "479901" "del" "0" "02329" "CSNK2A1_000020" "g.479895_479901del" "" "" "" "CSNK2A1(NM_001895.4):c.366_366+6delGGTATAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.499251_499257del" "" "likely pathogenic" "" "0000931179" "0" "90" "20" "468109" "468109" "subst" "0" "02326" "CSNK2A1_000021" "g.468109C>T" "" "" "" "CSNK2A1(NM_001895.4):c.935G>A (p.R312Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.487465C>T" "" "pathogenic" "" "0000970173" "0" "10" "20" "472838" "472838" "del" "0" "02329" "CSNK2A1_000022" "g.472838del" "" "" "" "CSNK2A1(NM_001895.4):c.621+71delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.492194del" "" "benign" "" "0000983833" "0" "50" "20" "464726" "464727" "ins" "0" "01804" "CSNK2A1_000023" "g.464726_464727insTCACATT" "" "" "" "CSNK2A1(NM_177559.3):c.1061-7_1061-6insAATGTGA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.484082_484083insTCACATT" "" "VUS" "" "0001005437" "0" "30" "20" "464636" "464636" "subst" "0" "01804" "CSNK2A1_000024" "g.464636G>C" "" "" "" "CSNK2A1(NM_177559.2):c.1145C>G (p.(Pro382Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.483992G>C" "" "likely benign" "" "0001005440" "0" "50" "20" "469318" "469318" "subst" "4.07203E-6" "01804" "CSNK2A1_000025" "g.469318T>C" "" "" "" "CSNK2A1(NM_177559.2):c.824+4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.488674T>C" "" "VUS" "" "0001005445" "0" "50" "20" "485776" "485776" "subst" "0" "01804" "CSNK2A1_000026" "g.485776C>G" "" "" "" "CSNK2A1(NM_177559.2):c.199G>C (p.(Val67Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.505132C>G" "" "VUS" "" "0001005446" "0" "70" "20" "485818" "485818" "subst" "0" "01804" "CSNK2A1_000027" "g.485818C>T" "" "" "" "CSNK2A1(NM_177559.2):c.157G>A (p.(Val53Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.505174C>T" "" "likely pathogenic" "" "0001005447" "0" "50" "20" "485848" "485848" "subst" "0" "01804" "CSNK2A1_000028" "g.485848G>A" "" "" "" "CSNK2A1(NM_177559.2):c.127C>T (p.(Arg43*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.505204G>A" "" "VUS" "" "0001018814" "0" "70" "20" "476394" "476394" "subst" "0" "03544" "CSNK2A1_000029" "g.476394T>C" "" "" "" "" "" "De novo" "yes" "rs2018334830" "0" "" "" "g.495750T>C" "{CV:975528}" "likely pathogenic" "ACMG" "0001027924" "0" "90" "20" "472926" "472926" "subst" "4.06273E-6" "00006" "CSNK2A1_000003" "g.472926T>C" "" "{PMID:Liu 2025:39915227}" "" "" "" "De novo" "" "" "0" "" "" "g.492282T>C" "" "pathogenic (dominant)" "" "0001029356" "0" "90" "20" "485835" "485835" "subst" "0" "00006" "CSNK2A1_000042" "g.485835C>T" "" "{PMID:Okur 2016:27048600}" "" "" "" "De novo" "" "" "0" "" "" "g.505191C>T" "" "pathogenic (dominant)" "" "0001029357" "0" "90" "20" "472926" "472926" "subst" "4.06273E-6" "00006" "CSNK2A1_000003" "g.472926T>C" "" "{PMID:Okur 2016:27048600}" "" "" "" "De novo" "" "" "0" "" "" "g.492282T>C" "" "pathogenic (dominant)" "" "0001029358" "0" "90" "20" "472995" "472995" "subst" "0" "00006" "CSNK2A1_000035" "g.472995T>C" "" "{PMID:Okur 2016:27048600}" "" "" "" "De novo" "" "" "0" "" "" "g.492351T>C" "" "pathogenic (dominant)" "" "0001029359" "0" "90" "20" "469320" "469320" "subst" "0" "00006" "CSNK2A1_000032" "g.469320A>G" "" "{PMID:Okur 2016:27048600}" "" "" "" "De novo" "" "" "0" "" "" "g.488676A>G" "" "pathogenic (dominant)" "" "0001029360" "0" "90" "20" "485826" "485826" "subst" "0" "00006" "CSNK2A1_000041" "g.485826T>G" "" "{PMID:Okur 2016:27048600}" "" "" "" "De novo" "" "" "0" "" "" "g.505182T>G" "" "pathogenic (dominant)" "" "0001029361" "0" "90" "20" "472926" "472926" "subst" "4.06273E-6" "00006" "CSNK2A1_000003" "g.472926T>C" "" "{PMID:Chiu 2018:29240241}" "" "" "" "De novo" "" "" "0" "" "" "g.492282T>C" "" "pathogenic (dominant)" "" "0001029362" "0" "90" "20" "470455" "470455" "subst" "0" "00006" "CSNK2A1_000013" "g.470455G>C" "" "{PMID:Chiu 2018:29240241}" "" "" "" "De novo" "" "" "0" "" "" "g.489811G>C" "" "pathogenic (dominant)" "" "0001029363" "0" "90" "20" "489117" "489117" "subst" "0" "00006" "CSNK2A1_000004" "g.489117C>T" "" "{PMID:Chiu 2018:29240241}" "" "" "" "De novo" "" "" "0" "" "" "g.508473C>T" "" "pathogenic (dominant)" "" "0001029364" "0" "90" "20" "489195" "489195" "subst" "0" "00006" "CSNK2A1_000005" "g.489195T>C" "" "{PMID:Chiu 2018:29240241}" "" "(Met1Val)" "" "De novo" "" "" "0" "" "" "g.508551T>C" "" "pathogenic (dominant)" "" "0001029365" "0" "90" "20" "480574" "480574" "subst" "0" "00006" "CSNK2A1_000038" "g.480574A>T" "" "{PMID:Chiu 2018:29240241}" "" "" "" "De novo" "" "" "0" "" "" "g.499930A>T" "" "pathogenic (dominant)" "" "0001029366" "0" "90" "20" "485835" "485835" "subst" "0" "00006" "CSNK2A1_000042" "g.485835C>T" "" "{PMID:Chiu 2018:29240241}" "" "" "" "De novo" "" "" "0" "" "" "g.505191C>T" "" "pathogenic (dominant)" "" "0001029367" "0" "90" "20" "468109" "468109" "subst" "0" "00006" "CSNK2A1_000021" "g.468109C>T" "" "{PMID:Chiu 2018:29240241}" "" "" "" "De novo" "" "" "0" "" "" "g.487465C>T" "" "pathogenic (dominant)" "" "0001029368" "0" "90" "20" "485824" "485824" "subst" "0" "00006" "CSNK2A1_000040" "g.485824T>G" "" "{PMID:Chiu 2018:29240241}" "" "" "" "De novo" "" "" "0" "" "" "g.505180T>G" "" "pathogenic (dominant)" "" "0001029369" "0" "90" "20" "476407" "476407" "subst" "0" "00006" "CSNK2A1_000030" "g.476407C>G" "" "{PMID:Trinh 2017:28725024}" "" "" "" "De novo" "" "" "0" "" "" "NC_000020.11:g.495763C>G" "" "pathogenic (dominant)" "" "0001029371" "0" "90" "20" "485835" "485835" "subst" "0" "00006" "CSNK2A1_000042" "g.485835C>T" "" "{PMID:Owen 2018:29383814}" "" "" "" "De novo" "" "" "0" "" "" "g.505191C>T" "" "pathogenic (dominant)" "" "0001029372" "0" "90" "20" "485823" "485823" "subst" "0" "00006" "CSNK2A1_000039" "g.485823C>T" "" "{PMID:Owen 2018:29383814}" "" "" "" "De novo" "" "" "0" "" "" "g.505179C>T" "" "pathogenic (dominant)" "" "0001029373" "0" "90" "20" "480553" "480553" "subst" "0" "00006" "CSNK2A1_000037" "g.480553C>T" "" "{PMID:Owen 2018:29383814}" "" "" "" "De novo" "" "" "0" "" "" "g.499909C>T" "" "pathogenic (dominant)" "" "0001029374" "0" "90" "20" "472997" "472997" "subst" "0" "00006" "CSNK2A1_000036" "g.472997T>C" "" "{PMID:Owen 2018:29383814}" "" "" "" "De novo" "" "" "0" "" "" "g.492353T>C" "" "pathogenic (dominant)" "" "0001029375" "0" "90" "20" "472947" "472947" "subst" "0" "00006" "CSNK2A1_000034" "g.472947C>T" "" "{PMID:Owen 2018:29383814}" "" "" "" "De novo" "" "" "0" "" "" "g.492303C>T" "" "pathogenic (dominant)" "" "0001029376" "0" "90" "20" "472930" "472930" "subst" "0" "00006" "CSNK2A1_000033" "g.472930A>T" "" "{PMID:Owen 2018:29383814}" "" "" "" "De novo" "" "" "0" "" "" "g.492286A>T" "" "pathogenic (dominant)" "" "0001029377" "0" "90" "20" "472926" "472926" "subst" "4.06273E-6" "00006" "CSNK2A1_000003" "g.472926T>C" "" "{PMID:Owen 2018:29383814}" "" "" "" "De novo" "" "" "0" "" "" "g.492282T>C" "" "pathogenic (dominant)" "" "0001029378" "0" "90" "20" "472926" "472926" "subst" "4.06273E-6" "00006" "CSNK2A1_000003" "g.472926T>C" "" "{PMID:Owen 2018:29383814}" "" "" "" "De novo" "" "" "0" "" "" "g.492282T>C" "" "pathogenic (dominant)" "" "0001029379" "0" "90" "20" "472926" "472926" "subst" "4.06273E-6" "00006" "CSNK2A1_000003" "g.472926T>C" "" "{PMID:Owen 2018:29383814}" "" "" "" "De novo" "" "" "0" "" "" "g.492282T>C" "" "pathogenic (dominant)" "" "0001029380" "0" "90" "20" "472926" "472926" "subst" "4.06273E-6" "00006" "CSNK2A1_000003" "g.472926T>C" "" "{PMID:Owen 2018:29383814}" "" "" "" "De novo" "" "" "0" "" "" "g.492282T>C" "" "pathogenic (dominant)" "" "0001029381" "0" "90" "20" "468110" "468110" "subst" "0" "00006" "CSNK2A1_000031" "g.468110G>A" "" "{PMID:Owen 2018:29383814}" "" "" "" "De novo" "" "" "0" "" "" "g.487466G>A" "" "pathogenic (recessive)" "" "0001029402" "0" "90" "20" "472926" "472926" "subst" "4.06273E-6" "00006" "CSNK2A1_000003" "g.472926T>C" "" "{PMID:Akahira-Azuma 2018:29619237}" "" "" "" "De novo" "" "" "0" "" "" "g.492282T>C" "" "pathogenic (dominant)" "" "0001030180" "0" "70" "20" "485835" "485835" "subst" "0" "01164" "CSNK2A1_000042" "g.485835C>T" "" "" "" "" "ACMG: PS2_VSTR, PM1, PM5, PM2_SUP; previous external CNV detected in index and non-affected father: Gain, 2 Mb; seq[GRCh38] 22q11.21q11.21(18936337x2,18939623_21209176x3,21209309x2); PMID: 27048600; 29383814" "De novo" "-" "" "0" "" "" "g.505191C>T" "VCV000224796.8" "pathogenic (dominant)" "ACMG" "0001043395" "0" "30" "20" "478422" "478422" "subst" "0.000293002" "01804" "CSNK2A1_000043" "g.478422T>C" "" "" "" "CSNK2A1(NM_177559.3):c.369A>G (p.(Gln123=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056815" "0" "50" "20" "464679" "464679" "subst" "0" "01804" "CSNK2A1_000044" "g.464679C>T" "" "" "" "CSNK2A1(NM_177559.3):c.1102G>A (p.(Ala368Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056816" "0" "70" "20" "468066" "468066" "subst" "0" "01804" "CSNK2A1_000045" "g.468066C>T" "" "" "" "CSNK2A1(NM_177559.3):c.973+5G>A" "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 CSNK2A1 ## Count = 59 "{{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}}" "0000268606" "00025981" "90" "149" "0" "149" "0" "c.149A>G" "r.(?)" "p.(Tyr50Cys)" "" "0000345321" "00025981" "50" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Glu27Lys)" "" "0000347468" "00025981" "90" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(Lys198Arg)" "" "0000347704" "00025981" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000569876" "00025981" "50" "1061" "-5" "1061" "-5" "c.1061-5T>G" "r.spl?" "p.?" "" "0000569884" "00025981" "90" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(Lys198Arg)" "" "0000569885" "00025981" "70" "524" "0" "524" "0" "c.524A>T" "r.(?)" "p.(Asp175Val)" "" "0000569910" "00025981" "70" "366" "0" "366" "3" "c.366_366+3del" "r.spl?" "p.?" "" "0000569924" "00025981" "70" "149" "0" "149" "0" "c.149A>G" "r.(?)" "p.(Tyr50Cys)" "" "0000618194" "00025981" "70" "832" "0" "832" "0" "c.832C>T" "r.(?)" "p.(Arg278Ter)" "" "0000618195" "00025981" "70" "692" "0" "692" "0" "c.692C>G" "r.(?)" "p.(Pro231Arg)" "" "0000618196" "00025981" "90" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(Lys198Arg)" "" "0000618201" "00025981" "70" "142" "0" "142" "0" "c.142G>A" "r.(?)" "p.(Gly48Ser)" "" "0000624167" "00025981" "50" "400" "0" "400" "0" "c.400C>T" "r.(?)" "p.(Arg134Ter)" "" "0000658777" "00025981" "70" "367" "-2" "367" "-2" "c.367-2A>G" "r.spl?" "p.?" "" "0000708799" "00025981" "70" "723" "1" "723" "1" "c.723+1G>C" "r.spl" "p.?" "" "0000809262" "00025981" "30" "1045" "0" "1045" "0" "c.1045G>A" "r.(?)" "p.(Ala349Thr)" "" "0000895354" "00025981" "30" "1061" "-5" "1061" "-5" "c.1061-5T>G" "r.spl?" "p.?" "" "0000895357" "00025981" "70" "366" "0" "366" "6" "c.366_366+6del" "r.spl?" "p.?" "" "0000931179" "00025981" "90" "935" "0" "935" "0" "c.935G>A" "r.(?)" "p.(Arg312Gln)" "" "0000970173" "00025981" "10" "621" "71" "621" "71" "c.621+71del" "r.(?)" "p.(=)" "" "0000983833" "00025981" "50" "1061" "-7" "1061" "-6" "c.1061-7_1061-6insAATGTGA" "r.(=)" "p.(=)" "" "0001005437" "00025981" "30" "1145" "0" "1145" "0" "c.1145C>G" "r.(?)" "p.(Pro382Arg)" "" "0001005440" "00025981" "50" "824" "4" "824" "4" "c.824+4A>G" "r.spl?" "p.?" "" "0001005445" "00025981" "50" "199" "0" "199" "0" "c.199G>C" "r.(?)" "p.(Val67Leu)" "" "0001005446" "00025981" "70" "157" "0" "157" "0" "c.157G>A" "r.(?)" "p.(Val53Ile)" "" "0001005447" "00025981" "50" "127" "0" "127" "0" "c.127C>T" "r.(?)" "p.(Arg43*)" "" "0001018814" "00025981" "70" "479" "0" "479" "0" "c.479A>G" "r.(479A>G)" "p.(His160Arg)" "7" "0001027924" "00025981" "90" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(Lys198Arg)" "" "0001029356" "00025981" "90" "140" "0" "140" "0" "c.140G>A" "r.(?)" "p.(Arg47Gln)" "" "0001029357" "00025981" "90" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(Lys198Arg)" "" "0001029358" "00025981" "90" "524" "0" "524" "0" "c.524A>G" "r.(?)" "p.(Asp175Gly)" "" "0001029359" "00025981" "90" "824" "2" "824" "2" "c.824+2T>C" "r.spl" "p.?" "" "0001029360" "00025981" "90" "149" "0" "149" "0" "c.149A>C" "r.(?)" "p.(Tyr50Ser)" "" "0001029361" "00025981" "90" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(Lys198Arg)" "" "0001029362" "00025981" "90" "692" "0" "692" "0" "c.692C>G" "r.(?)" "p.(Pro231Arg)" "" "0001029363" "00025981" "90" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Glu27Lys)" "" "0001029364" "00025981" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0001029365" "00025981" "90" "218" "0" "218" "0" "c.218T>A" "r.(?)" "p.(Val73Glu)" "" "0001029366" "00025981" "90" "140" "0" "140" "0" "c.140G>A" "r.(?)" "p.(Arg47Gln)" "" "0001029367" "00025981" "90" "935" "0" "935" "0" "c.935G>A" "r.(?)" "p.(Arg312Gln)" "" "0001029368" "00025981" "90" "151" "0" "151" "0" "c.151A>C" "r.(?)" "p.(Ser51Arg)" "" "0001029369" "00025981" "90" "466" "0" "466" "0" "c.466G>C" "r.(?)" "p.(Asp156His)" "" "0001029371" "00025981" "90" "140" "0" "140" "0" "c.140G>A" "r.(?)" "p.(Arg47Gln)" "" "0001029372" "00025981" "90" "152" "0" "152" "0" "c.152G>A" "r.(?)" "p.(Ser51Asn)" "" "0001029373" "00025981" "90" "239" "0" "239" "0" "c.239G>A" "r.(?)" "p.(Arg80His)" "" "0001029374" "00025981" "90" "522" "0" "522" "0" "c.522A>G" "r.(?)" "p.(Ile174Met)" "" "0001029375" "00025981" "90" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Arg191Gln)" "" "0001029376" "00025981" "90" "589" "0" "589" "0" "c.589T>A" "r.(?)" "p.(Phe197Ile)" "" "0001029377" "00025981" "90" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(Lys198Arg)" "" "0001029378" "00025981" "90" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(Lys198Arg)" "" "0001029379" "00025981" "90" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(Lys198Arg)" "" "0001029380" "00025981" "90" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(Lys198Arg)" "" "0001029381" "00025981" "90" "934" "0" "934" "0" "c.934C>T" "r.(?)" "p.(Arg312Trp)" "" "0001029402" "00025981" "90" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(Lys198Arg)" "" "0001030180" "00025981" "70" "140" "0" "140" "0" "c.140G>A" "r.(?)" "p.(Arg47Gln)" "4" "0001043395" "00025981" "30" "369" "0" "369" "0" "c.369A>G" "r.(?)" "p.(=)" "" "0001056815" "00025981" "50" "1102" "0" "1102" "0" "c.1102G>A" "r.(?)" "p.(Ala368Thr)" "" "0001056816" "00025981" "70" "973" "5" "973" "5" "c.973+5G>A" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 30 "{{screeningid}}" "{{variantid}}" "0000325663" "0000708799" "0000459874" "0001018814" "0000464241" "0001027924" "0000465670" "0001029356" "0000465671" "0001029357" "0000465672" "0001029358" "0000465673" "0001029359" "0000465674" "0001029360" "0000465675" "0001029361" "0000465676" "0001029362" "0000465677" "0001029363" "0000465678" "0001029364" "0000465679" "0001029365" "0000465680" "0001029366" "0000465681" "0001029367" "0000465682" "0001029368" "0000465683" "0001029369" "0000465684" "0001029371" "0000465685" "0001029372" "0000465686" "0001029373" "0000465687" "0001029374" "0000465688" "0001029375" "0000465689" "0001029376" "0000465690" "0001029377" "0000465691" "0001029378" "0000465692" "0001029379" "0000465693" "0001029380" "0000465694" "0001029381" "0000465704" "0001029402" "0000466261" "0001030180"