### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CASK) # 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}}" "CASK" "calcium/calmodulin-dependent serine protein kinase (MAGUK family)" "X" "p11.4" "unknown" "NG_016754.1" "UD_132084390183" "" "https://www.LOVD.nl/CASK" "" "1" "1497" "8573" "300172" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/CASK_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2017-08-04 09:34:59" "00006" "2025-10-02 12:03:41" ## 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}}" "00000345" "CASK" "transcript variant 1" "003" "NM_003688.3" "" "NP_003679.2" "" "" "" "-46" "8252" "2766" "41374187" "41782287" "00000" "2012-09-13 12:08:52" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{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" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00768" "MICPCH" "mental retardation, microcephaly with pontine, cerebellar hypoplasia (MICPCH)" "XLD" "300749" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-01-15 09:18:41" "00769" "FGS4" "FG syndrome, type 4 (FGS4)" "XL" "300422" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-01-15 09:18:10" "00825" "MRXSBL;MRX60" "intellectual developmental disorder, X-linked syndromic, Billuart type" "XLR" "300486" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-11-16 16:06:59" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "04298" "EIG" "epilepsy, idiopathic, generalized (EIG)" "" "" "" "" "" "00006" "2015-07-15 15:03:52" "" "" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "CASK" "00139" "CASK" "00768" "CASK" "00769" ## Individuals ## Do not remove or alter this header ## ## Count = 71 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00050379" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050435" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050502" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050524" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "affected, unknown family members" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050587" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050644" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected and affected2nd degree relatives" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050678" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00057257" "" "" "" "1" "" "01494" "{PMID:Rump 2016:26846091}" "" "F" "" "" "" "0" "" "" "" "" "00111393" "" "" "" "1" "" "00729" "{PMID:Popp 2017:29158550}, {DOI:Popp 2017:10.1038/s41431-017-0022-1}" "" "F" "no" "" "" "0" "" "" "" "S_008" "00111690" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377234-Pat?" "00111691" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377235-Pat?" "00111692" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377236-Pat?" "00144508" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00163761" "" "" "" "1" "" "01835" "" "" "F" "" "" "" "0" "" "" "European" "UZL6032" "00163762" "" "" "" "1" "" "01835" "" "" "F" "" "" "" "0" "" "" "white" "UZL6596" "00163763" "" "" "" "1" "" "01835" "" "" "F" "" "" "" "0" "" "" "European" "UZL4581" "00163765" "" "" "" "1" "" "01835" "" "" "F" "" "" "" "0" "" "" "European" "UZL7743" "00172972" "" "" "" "24" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00183658" "" "" "" "1" "" "00006" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "" "" "Spain" "" "0" "" "" "" "27620904-Pat03" "00213087" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00275940" "" "" "" "1" "" "01469" "" "" "M" "" "" "12y" "" "" "" "" "" "00275942" "" "" "" "1" "" "01469" "" "" "F" "" "" "01y06m" "" "" "" "" "CCM031" "00275943" "" "" "" "1" "" "01469" "" "" "F" "" "Romania" "" "" "" "" "" "CCM041" "00275944" "" "" "" "1" "" "01469" "" "" "F" "" "Italy" "05y07m" "" "" "" "" "CCM043" "00275945" "" "" "" "1" "" "01469" "" "" "F" "" "" "15y06m" "" "" "" "" "CCM086" "00275946" "" "" "" "1" "" "01469" "" "" "F" "" "Italy" "26y04m" "" "" "" "" "CCM115" "00275947" "" "" "" "1" "" "01469" "" "" "F" "" "Italy" "05y" "" "" "" "" "CCM157" "00275948" "" "" "" "1" "" "01469" "" "" "M" "" "Italy" "01y09m" "" "" "" "" "CCM195" "00275949" "" "" "" "1" "" "01469" "" "" "F" "" "" "03y06m" "" "" "" "" "CCM239" "00275950" "" "" "" "1" "" "01469" "" "" "M" "" "Italy" "04y02m" "" "" "" "" "CCM395" "00275951" "" "" "" "1" "" "01469" "" "" "F" "" "Croatia (Hrvatska)" "00y04m" "" "" "" "" "CCM249" "00275952" "" "" "" "1" "" "01469" "" "" "F" "" "Italy" "04y02m" "" "" "" "" "CCM333" "00275953" "" "" "" "1" "" "01469" "" "" "F" "" "Morocco" "03y04m" "" "" "" "" "CCM411" "00275954" "" "" "" "1" "" "01469" "" "" "F" "" "Italy" "03y09m" "" "" "" "" "CCM529" "00275955" "" "" "" "1" "" "01469" "" "" "F" "" "Italy" "03y06m" "" "" "" "" "CCM530" "00275956" "" "" "" "1" "" "01469" "" "" "F" "" "Italy" "00y08m" "" "" "" "" "CCM433" "00275957" "" "" "" "1" "" "01469" "" "" "F" "" "Italy" "05y04m" "" "" "" "" "CCM457" "00275958" "" "" "" "1" "" "01469" "" "" "F" "" "Israel" "07y" "" "" "" "" "CCM509" "00275959" "" "" "" "1" "" "01469" "" "" "M" "" "Albania" "03y04m" "" "" "" "" "CCM510" "00275960" "" "" "" "1" "" "01469" "" "" "F" "" "Italy" "05y02m" "" "" "" "" "CCM515" "00275961" "" "" "" "1" "" "01469" "" "" "F" "" "Serbia" "01y09m" "" "" "" "" "CCM525" "00275962" "" "" "" "1" "" "01469" "" "" "F" "" "" "" "" "" "" "" "CCM532" "00275963" "" "" "" "1" "" "01469" "" "" "F" "" "Italy" "07y05m" "" "" "" "" "CCM531" "00275964" "" "" "" "1" "" "01469" "" "" "F" "" "Italy" "04y" "" "" "" "" "CCM533" "00275965" "" "" "" "1" "" "01469" "" "" "F" "" "Italy" "06y" "" "" "" "" "CCM568" "00295059" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295060" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295061" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00302680" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00302975" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat20" "00326801" "" "" "" "2" "" "03974" "" "" "M" "no" "China" "" "" "" "" "" "" "00326807" "" "" "" "3" "" "03974" "" "" "" "" "China" "" "" "" "" "" "" "00326808" "" "" "" "2" "" "03974" "" "" "" "no" "(China)" "" "" "" "" "" "" "00326809" "" "" "" "1" "" "03974" "" "" "" "" "China" "" "" "" "" "" "" "00326810" "" "" "" "1" "" "03974" "" "" "" "" "China" "" "" "" "" "" "" "00326811" "" "" "" "1" "" "03974" "" "" "" "" "" "" "" "" "" "" "" "00326812" "" "" "" "1" "" "03974" "" "" "" "" "" "" "0" "" "" "" "" "00326813" "" "" "" "1" "" "03974" "" "" "" "" "China" "" "" "" "" "" "" "00374179" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2936" "00374190" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2989" "00387872" "" "" "" "4" "" "00006" "{PMID:Hu 2019:29302074}" "family, 4 affected individuals, first cousin parents" "" "yes" "" "" "0" "" "" "Arab" "M9000047" "00387890" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals" "" "" "Iran" "" "0" "" "" "Persia" "M9000120" "00411450" "" "" "" "1" "" "03178" "{DOI:Rodríguez-García 2022:10.1038/s10038-023-01150-4}" "" "M" "no" "Spain" ">10y" "0" "" "" "white" "" "00416850" "" "" "" "1" "" "00000" "{PMID:Rump 2016:26846091}" "" "F" "" "" "" "0" "" "" "" "19" "00419868" "" "" "" "1" "" "00006" "{PMID:Patel 2022:35149592}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "" "United States" "00y02m" "0" "" "" "" "patient" "00434848" "" "" "" "1" "" "00006" "{PMID:Gostain 2020:32960281}" "" "F" "" "Canada" "" "0" "" "" "" "CMC10" "00455464" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "307639" "00464356" "" "" "" "1" "" "04459" "" "" "" "" "" "" "" "" "" "" "" "00466584" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 71 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00050379" "00198" "00050435" "00198" "00050502" "00198" "00050524" "00198" "00050587" "00198" "00050644" "00198" "00050678" "00198" "00057257" "00768" "00111393" "00768" "00111690" "00187" "00111691" "00187" "00111692" "00187" "00144508" "00198" "00163761" "00768" "00163763" "00768" "00163765" "00139" "00172972" "00187" "00183658" "00139" "00213087" "00198" "00275940" "00768" "00275940" "00825" "00275942" "00768" "00275943" "00768" "00275944" "00768" "00275945" "00768" "00275946" "00768" "00275947" "00768" "00275948" "00768" "00275949" "00768" "00275950" "00768" "00275951" "00768" "00275952" "00768" "00275953" "00768" "00275954" "00768" "00275955" "00768" "00275956" "00768" "00275957" "00768" "00275958" "00768" "00275959" "00768" "00275960" "00768" "00275961" "00768" "00275962" "00768" "00275963" "00768" "00275964" "00768" "00275965" "00768" "00295059" "00198" "00295060" "00198" "00295061" "00198" "00302680" "00198" "00302975" "05521" "00326801" "04298" "00326807" "04270" "00326808" "04270" "00326809" "04270" "00326810" "04270" "00326811" "04270" "00326812" "04270" "00326813" "04270" "00374179" "00198" "00374190" "00198" "00387872" "00139" "00387890" "00139" "00411450" "00768" "00416850" "00768" "00419868" "00198" "00434848" "00198" "00455464" "00768" "00464356" "00769" "00466584" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 00768, 00769, 00825, 01157, 04270, 04298, 05521 ## Count = 63 "{{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/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000036991" "00198" "00050379" "00006" "Isolated (sporadic)" "" "microcephaly, developmental regression, global developmental delay, hearing impairment, diabetes mellitus, aplasia/hypoplasia of the cerebellum, abnormality of the brainstem, delayed cns myelination" "" "" "" "" "" "" "" "" "" "" "" "" "0000037047" "00198" "00050435" "00006" "Isolated (sporadic)" "" "oligohydramnios, talipes equinovarus, generalized tonic seizures, hypertonia, microcephaly, progressive congenital scoliosis, abnormality of earlobe" "" "" "" "" "" "" "" "" "" "" "" "" "0000037114" "00198" "00050502" "00006" "Isolated (sporadic)" "" "global developmental delay, microcephaly, pulmonic stenosis, dandy-walker malformation, narrow palate, deeply set eye, sensorineural hearing impairment, 2-3 toe syndactyly, clinodactyly of the 5th finger" "" "" "" "" "" "" "" "" "" "" "" "" "0000037136" "00198" "00050524" "00006" "Unknown" "" "pontocerebellar hypoplasia, progressive microcephaly, cortical visual impairment, severe global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "0000037199" "00198" "00050587" "00006" "Isolated (sporadic)" "" "severe short stature, global developmental delay, specific learning disability, abnormal facial shape, generalized hypotonia due to defect at the neuromuscular junction, attention deficit hyperactivity disorder, aggressive behavior, myopia, increased body weight, cafe-au-lait spot, fifth toe clinodactyly, joint hypermobility, large for gestational age, autism" "" "" "" "" "" "" "" "" "" "" "" "" "0000037256" "00198" "00050644" "00006" "Unknown" "" "microcephaly, global developmental delay, abnormal facial shape" "" "" "" "" "" "" "" "" "" "" "" "" "0000037290" "00198" "00050678" "00006" "Isolated (sporadic)" "" "microcephaly, intellectual disability, global developmental delay, large for gestational age, epicanthus, long philtrum, depressed nasal bridge, hypotelorism, wide intermamillary distance, low-set ears" "" "" "" "" "" "" "" "" "" "" "" "" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000044543" "00768" "00057257" "01494" "Familial, X-linked" "" "Microcephaly HP:0000252" "" "" "" "" "" "" "" "" "" "" "" "" "0000087478" "00768" "00111393" "00729" "Isolated (sporadic)" "" "Microcephaly, MRI: cerebellopontine hypoplasia, moderate to severe ID, muscular hypertonia, hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "0000087533" "00187" "00111690" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087534" "00187" "00111691" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087535" "00187" "00111692" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000117246" "00198" "00144508" "01807" "Unknown" "" "Delayed speech and language development (HP:0000750); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "" "0000128889" "00768" "00163761" "01835" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128891" "00768" "00163763" "01835" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128892" "00139" "00163765" "01835" "Isolated (sporadic)" "" "postnatal microcephaly (HP:0005484)\r\ndelayed psychomotor development (HP:0001263)\r\nnystagmus (HP:0000639)\r\nhyperopia (HP:0000540)\r\nesotropia (HP:0000565)" "" "" "" "" "" "" "" "" "" "" "" "" "0000137836" "00187" "00172972" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000144344" "00139" "00183658" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "MICPCH" "intellectual disability" "" "0000161567" "00198" "00213087" "01807" "Unknown" "" "HP:0001263 (Global developmental delay)" "" "" "" "" "" "" "" "" "" "" "" "" "0000210623" "00768" "00275940" "01469" "Familial, X-linked dominant" "12y" "pontocerebellar hypoplasia" "" "" "" "" "" "" "" "" "" "" "" "" "0000210624" "00768" "00275942" "01469" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210625" "00768" "00275943" "01469" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210626" "00768" "00275944" "01469" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210627" "00768" "00275945" "01469" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210628" "00768" "00275946" "01469" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210629" "00768" "00275947" "01469" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210630" "00768" "00275948" "01469" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210631" "00768" "00275949" "01469" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210632" "00768" "00275950" "01469" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210633" "00768" "00275951" "01469" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210634" "00768" "00275952" "01469" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210635" "00768" "00275953" "01469" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210636" "00768" "00275954" "01469" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210637" "00768" "00275955" "01469" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210638" "00768" "00275956" "01469" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210639" "00768" "00275957" "01469" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210640" "00768" "00275958" "01469" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210641" "00768" "00275959" "01469" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210642" "00768" "00275960" "01469" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210643" "00768" "00275961" "01469" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210644" "00768" "00275962" "01469" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210645" "00768" "00275963" "01469" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210646" "00768" "00275964" "01469" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210647" "00768" "00275965" "01469" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229764" "00198" "00302680" "01164" "Unknown" "" "Global developmental delay (HP:0001263); Abnormality of the cerebellum (HP:0001317); Hearing impairment (HP:0000365); Aplasia/Hypoplasia of the corpus callosum (HP:0007370); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "" "0000230058" "05521" "00302975" "00006" "Isolated (sporadic)" "" "Unclassified epilepsy; age onset unknown" "" "" "" "" "" "" "" "" "" "" "seizures" "" "0000245267" "04298" "00326801" "03974" "Familial, X-linked recessive" "" "Epilepsy, intellectual disability and cerebral palsy of spasticity" "" "" "" "" "" "" "" "" "" "" "" "" "0000245272" "04270" "00326807" "03974" "Familial, X-linked dominant" "" "microcephaly, epilepsy, developmental delay, delayed speech" "" "" "" "" "" "" "" "" "" "" "" "" "0000245273" "04270" "00326808" "03974" "Familial, X-linked dominant" "" "epilepsy, ID, ASD" "" "" "" "" "" "" "" "" "" "" "" "" "0000245274" "04270" "00326809" "03974" "Isolated (sporadic)" "" "epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "0000245275" "04270" "00326810" "03974" "Unknown" "" "Epilepsy and ID" "" "" "" "" "" "" "" "" "" "" "" "" "0000269389" "00198" "00374179" "00006" "Familial, autosomal dominant" "" "Developmental delay, microcephaly and Dandy-Walker malformations" "" "" "" "" "" "" "" "" "" "" "microcephaly" "" "0000269400" "00198" "00374190" "00006" "Familial, autosomal dominant" "" "Mild global developmental delay, febrile illness, dyskinesia, dystonia and regression of milestones" "" "" "" "" "" "" "" "" "" "" "dystonia" "" "0000281440" "00139" "00387872" "00006" "Familial, autosomal recessive" "" "non-syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000281458" "00139" "00387890" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000303487" "00768" "00411450" "03178" "Isolated (sporadic)" "00y03m" "HP:0001263\r\nHP:0003502\r\nHP:0000252\r\nHP:0001272\r\nHP:0006834\r\nHP:0000496\r\nHP:0002521\r\nHP:0002540\r\nHP:0001344\r\nHP:0001252\r\nHP:0001631\r\nHP:0000648" "00y03m" "" "" "" "" "" "" "" "" "MICPCH" "Epileptic encephalopathy" "" "0000308360" "00768" "00416850" "00000" "Familial, X-linked" "22y" "brain magnetic resonance imaging: atrophy, mild enlarged ventricles on ct-scan; additional clinical featuresumbilical hernia, hip dysplasia, scoliosis, spasticity, feeding problems, severe intellectual disability, seizures, no speech, prominent upper incisors" "" "" "" "" "" "" "" "" "" "Mental retardation and microcephaly with pontine and cerebellar hypoplasia [MIM 300749]" "" "" "0000311149" "00198" "00419868" "00006" "Isolated (sporadic)" "" "expired due to hypoventilation and neurogenic respiratory failure; MRI brain normal lateral and third ventricles, elongated fourth ventricle, cerebellum markedly hypoplastic with extremely rudimentary vermis, small posterior fossa filled with fluid, corpus callosum thin without any midline shift, myelination delayed for age, cavum septum pellucidum more prominen, no heterotopic cells noted in any area, some simplification gyral pattern, particularly in frontal cortex, brain stem extremely thin" "" "" "" "" "" "" "" "" "" "" "" "" "0000325087" "00198" "00434848" "00006" "Isolated (sporadic)" "" "global developmental delay or intellectual disability, microcephaly" "" "" "" "" "" "" "" "" "" "" "" "" "0000344027" "00768" "00455464" "01164" "Unknown" "02y" "Microcephaly, Delayed cranial suture closure, Neurodevelopmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "0000351948" "00198" "00466584" "03544" "Isolated (sporadic)" "" "HP:0000253, HP:0004322, HP:0008915, HP:0000518" "" "" "" "" "" "" "" "" "" "MICPCH" "multiple congenital abnormalities" "" ## Screenings ## Do not remove or alter this header ## ## Count = 72 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000050324" "00050379" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050380" "00050435" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050447" "00050502" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050469" "00050524" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050532" "00050587" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050589" "00050644" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050623" "00050678" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000057218" "00057257" "1" "01494" "01494" "2016-01-21 14:51:51" "" "" "SEQ-NG-I" "DNA" "DNA isolated from blood" "" "0000111858" "00111393" "1" "00729" "00729" "2017-08-03 00:40:50" "" "" "SEQ-NG" "DNA" "" "" "0000112149" "00111690" "1" "00124" "00006" "2009-04-08 13:58:13" "" "" "SEQ" "DNA" "" "" "0000112150" "00111691" "1" "00124" "00006" "2009-04-08 13:58:13" "" "" "SEQ" "DNA" "" "" "0000112151" "00111692" "1" "00124" "00006" "2009-04-08 13:58:13" "" "" "SEQ" "DNA" "" "" "0000145365" "00144508" "0" "01807" "01807" "2017-12-15 14:21:16" "" "" "SEQ" "DNA" "" "" "0000164623" "00163761" "1" "01835" "01835" "2018-04-10 12:00:36" "01835" "2018-04-10 12:21:18" "SEQ" "DNA" "" "" "0000164624" "00163762" "1" "01835" "01835" "2018-04-10 12:28:20" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000164625" "00163763" "1" "01835" "01835" "2018-04-10 12:38:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000164628" "00163765" "1" "01835" "01835" "2018-04-10 14:26:53" "00006" "2018-04-15 11:50:22" "RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "" "" "0000164644" "00163761" "1" "01835" "01835" "2018-04-11 14:50:04" "" "" "SEQ-NG-I" "DNA" "" "" "0000173855" "00172972" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000184626" "00183658" "1" "00006" "00006" "2018-10-27 10:06:27" "" "" "SEQ;SEQ-NG" "DNA" "" "1256 gene panel" "0000214162" "00213087" "1" "01807" "01807" "2019-01-09 13:24:27" "" "" "SEQ" "DNA" "" "" "0000277093" "00275940" "1" "01469" "01469" "2020-01-21 13:51:33" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000277095" "00275942" "1" "01469" "01469" "2020-01-21 14:55:31" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000277096" "00275943" "1" "01469" "01469" "2020-01-21 15:04:09" "" "" "MLPA" "DNA" "blood" "" "0000277097" "00275944" "1" "01469" "01469" "2020-01-21 16:08:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000277098" "00275945" "1" "01469" "01469" "2020-01-21 16:13:07" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000277099" "00275946" "1" "01469" "01469" "2020-01-21 16:17:37" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000277100" "00275947" "1" "01469" "01469" "2020-01-21 16:22:58" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000277101" "00275948" "1" "01469" "01469" "2020-01-21 16:28:07" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000277102" "00275949" "1" "01469" "01469" "2020-01-21 16:32:44" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000277103" "00275950" "1" "01469" "01469" "2020-01-21 16:37:07" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000277104" "00275951" "1" "01469" "01469" "2020-01-21 16:42:27" "" "" "MLPA" "DNA" "blood" "" "0000277105" "00275952" "1" "01469" "01469" "2020-01-21 16:46:32" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000277106" "00275953" "1" "01469" "01469" "2020-01-21 16:50:38" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000277107" "00275954" "1" "01469" "01469" "2020-01-21 16:55:36" "" "" "MLPA" "DNA" "blood" "" "0000277108" "00275955" "1" "01469" "01469" "2020-01-21 16:59:54" "" "" "MLPA" "DNA" "blood" "" "0000277109" "00275956" "1" "01469" "01469" "2020-01-21 17:04:58" "" "" "MLPA" "DNA" "blood" "" "0000277110" "00275957" "1" "01469" "01469" "2020-01-21 17:08:41" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000277111" "00275958" "1" "01469" "01469" "2020-01-21 17:13:11" "" "" "MLPA" "DNA" "blood" "" "0000277112" "00275959" "1" "01469" "01469" "2020-01-21 17:16:17" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000277113" "00275960" "1" "01469" "01469" "2020-01-21 17:20:44" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000277114" "00275961" "1" "01469" "01469" "2020-01-21 17:24:57" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000277115" "00275962" "1" "01469" "01469" "2020-01-21 17:28:46" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000277116" "00275963" "1" "01469" "01469" "2020-01-21 17:49:17" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000277117" "00275964" "1" "01469" "01469" "2020-01-21 17:53:16" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000277118" "00275965" "1" "01469" "01469" "2020-01-21 18:03:47" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000296227" "00295059" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296228" "00295060" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296229" "00295061" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000303806" "00302680" "1" "01164" "01164" "2020-05-29 15:04:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000304100" "00302975" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000328020" "00326801" "1" "03974" "03974" "2021-01-14 22:41:26" "" "" "SEQ-NG" "DNA" "" "" "0000328021" "00326807" "1" "03974" "03974" "2021-01-14 23:00:27" "" "" "SEQ-NG" "DNA" "" "" "0000328022" "00326808" "1" "03974" "03974" "2021-01-14 23:38:21" "" "" "SEQ-NG" "DNA" "" "" "0000328023" "00326809" "1" "03974" "03974" "2021-01-15 00:03:15" "" "" "SEQ-NG" "DNA" "" "" "0000328024" "00326810" "1" "03974" "03974" "2021-01-15 03:00:25" "" "" "SEQ-NG" "DNA" "" "" "0000328025" "00326811" "1" "03974" "03974" "2021-01-15 03:08:26" "" "" "SEQ-NG" "DNA" "" "" "0000328026" "00326812" "1" "03974" "03974" "2021-01-15 03:18:30" "" "" "SEQ-NG" "DNA" "" "" "0000328027" "00326813" "1" "03974" "03974" "2021-01-15 03:25:34" "" "" "SEQ-NG" "DNA" "" "" "0000375373" "00374179" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375384" "00374190" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000389103" "00387872" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000389121" "00387890" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000412719" "00411450" "1" "03178" "03178" "2022-06-13 19:51:35" "" "" "RT-PCR;SEQ-NG" "DNA;RNA" "BLOOD" "" "0000418132" "00416850" "1" "00000" "03840" "2022-09-08 10:25:47" "" "" "arraySNP;SEQ-NG-I;SEQ" "DNA" "" "" "0000421173" "00419868" "1" "00006" "00006" "2022-10-23 22:05:08" "" "" "SEQ" "DNA" "" "" "0000436320" "00434848" "1" "00006" "00006" "2023-04-07 18:27:15" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000457078" "00455464" "1" "01164" "01164" "2024-10-10 12:36:35" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000465986" "00464356" "1" "04459" "04459" "2025-03-06 08:09:57" "" "" "SEQ-NG" "DNA" "" "" "0000468248" "00466584" "1" "03544" "03544" "2025-09-17 09:41:12" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 27 "{{screeningid}}" "{{geneid}}" "0000050324" "CASK" "0000050380" "CASK" "0000050447" "CASK" "0000050532" "CASK" "0000050589" "CASK" "0000050623" "CASK" "0000111858" "CASK" "0000112149" "CASK" "0000112150" "CASK" "0000112151" "CASK" "0000164623" "CASK" "0000164624" "CASK" "0000164628" "CASK" "0000173855" "RAB40A" "0000184626" "CASK" "0000277096" "CASK" "0000277104" "CASK" "0000277108" "CASK" "0000277109" "CASK" "0000304100" "CASK" "0000375373" "ADAR" "0000375384" "ANG" "0000389103" "CASK" "0000389121" "CASK" "0000418132" "CASK" "0000457078" "CASK" "0000465986" "CASK" ## 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 = 175 "{{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}}" "0000001875" "20" "50" "X" "41530667" "41530667" "dup" "0" "00037" "CASK_000019" "g.41530667dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.41671414dup" "" "VUS" "" "0000002899" "20" "50" "X" "41530667" "41530667" "dup" "0" "00037" "CASK_000010" "g.41530667dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.41671414dup" "" "VUS" "" "0000006637" "20" "50" "X" "41412729" "41412729" "subst" "0" "00037" "CASK_000007" "g.41412729T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.41553476T>C" "" "VUS" "" "0000006638" "20" "50" "X" "41548943" "41548943" "subst" "0" "00037" "CASK_000006" "g.41548943T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.41689690T>C" "" "VUS" "" "0000008693" "0" "50" "X" "41416234" "41416234" "subst" "0" "00037" "CASK_000018" "g.41416234T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.41556981T>G" "" "VUS" "" "0000008694" "0" "50" "X" "41482151" "41482151" "dup" "0" "00037" "CASK_000008" "g.41482151dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.41622898dup" "" "VUS" "" "0000008695" "0" "50" "X" "41530667" "41530667" "dup" "0" "00037" "CASK_000019" "g.41530667dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.41671414dup" "" "VUS" "" "0000008696" "0" "50" "X" "41530666" "41530667" "dup" "0" "00037" "CASK_000005" "g.41530666_41530667dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.41671413_41671414dup" "" "VUS" "" "0000008697" "20" "50" "X" "41548943" "41548943" "subst" "0" "00037" "GPR34_000007" "g.41548943T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.41689690T>C" "" "VUS" "" "0000010898" "0" "50" "X" "41482133" "41482133" "del" "0" "00037" "CASK_000009" "g.41482133del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.41622880del" "" "VUS" "" "0000010899" "0" "50" "X" "41530667" "41530667" "dup" "0" "00037" "CASK_000010" "g.41530667dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.41671414dup" "" "VUS" "" "0000079304" "0" "90" "X" "41509725" "41527913" "dup" "0" "00006" "CASK_000012" "g.41509725_41527913dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "De novo" "" "" "0" "" "" "g.41650472_41668660dup" "" "pathogenic" "" "0000079360" "21" "90" "X" "41414858" "41414858" "subst" "0" "00006" "CASK_000016" "g.41414858G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.41555605G>A" "" "pathogenic" "" "0000079427" "0" "90" "X" "41420871" "41420871" "subst" "0" "00006" "CASK_000011" "g.41420871G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.41561618G>A" "" "pathogenic" "" "0000079449" "0" "90" "X" "41646322" "43741871" "del" "0" "00006" "CASK_000037" "g.41646322_43741871del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000079512" "0" "90" "X" "41519760" "41519760" "subst" "0" "00006" "CASK_000014" "g.41519760G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.41660507G>A" "" "pathogenic" "" "0000079569" "0" "90" "X" "41519691" "41519691" "subst" "0" "00006" "CASK_000013" "g.41519691C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "splice variant" "De novo" "" "" "0" "" "" "g.41660438C>T" "" "pathogenic" "" "0000079603" "0" "90" "X" "41413137" "41413137" "subst" "0" "00006" "CASK_000015" "g.41413137G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.41553884G>A" "" "pathogenic" "" "0000087510" "0" "70" "X" "41393957" "41393957" "subst" "0" "01494" "CASK_000004" "g.41393957A>C" "1/38 patients" "{PMID:Rump 2016:26846091}" "" "" "" "De novo" "yes" "" "0" "" "" "g.41534704A>C" "" "likely pathogenic" "" "0000179016" "0" "90" "X" "41712473" "41712473" "del" "0" "00729" "CASK_000020" "g.41712473del" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41853220del" "" "pathogenic" "ACMG" "0000179305" "1" "30" "X" "41437704" "41437704" "subst" "0.000190718" "00124" "CASK_000001" "g.41437704G>A" "" "{PMID:Tarpey 2009:19377476}" "" "T464T" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.41578451G>A" "" "likely benign" "" "0000179306" "1" "50" "X" "41401970" "41401970" "subst" "0" "00124" "CASK_000002" "g.41401970T>C" "" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.41542717T>C" "" "VUS" "" "0000179307" "1" "50" "X" "41519721" "41519721" "subst" "0" "00124" "CASK_000003" "g.41519721A>G" "" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.41660468A>G" "" "VUS" "" "0000236478" "0" "90" "X" "41782205" "41782205" "subst" "0" "01807" "CASK_000021" "g.41782205C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41922952C>A" "" "pathogenic" "" "0000247746" "0" "10" "X" "41383311" "41383311" "del" "0" "02330" "CASK_000024" "g.41383311del" "" "" "" "CASK(NM_003688.3):c.2506-11delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41524058del" "" "benign" "" "0000249589" "0" "30" "X" "41530667" "41530667" "dup" "0" "02325" "CASK_000019" "g.41530667dup" "" "" "" "CASK(NM_003688.4):c.532+13delTinsTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41671414dup" "" "likely benign" "" "0000249724" "0" "50" "X" "41604839" "41604839" "subst" "0" "02325" "CASK_000049" "g.41604839A>C" "" "" "" "CASK(NM_003688.4):c.294T>G (p.D98E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41745586A>C" "" "VUS" "" "0000250504" "0" "70" "X" "41401965" "41401965" "subst" "0" "02329" "CASK_000029" "g.41401965A>G" "" "" "" "CASK(NM_003688.3):c.2134T>C (p.Y712H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41542712A>G" "" "likely pathogenic" "" "0000251675" "0" "10" "X" "41383299" "41383299" "subst" "0" "02326" "CASK_000025" "g.41383299A>G" "" "" "" "CASK(NM_003688.3):c.2506-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41524046A>G" "" "benign" "" "0000251676" "0" "30" "X" "41383311" "41383311" "del" "0" "02326" "CASK_000027" "g.41383311del" "" "" "" "CASK(NM_003688.3):c.2506-11delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41524058del" "" "likely benign" "" "0000251677" "0" "10" "X" "41531040" "41531040" "subst" "0" "02326" "CASK_000043" "g.41531040A>T" "" "" "" "CASK(NM_003688.3):c.430-257T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41671787A>T" "" "benign" "" "0000251678" "0" "10" "X" "41604860" "41604860" "subst" "0" "02326" "CASK_000050" "g.41604860A>T" "" "" "" "CASK(NM_003688.3):c.279-6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41745607A>T" "" "benign" "" "0000252356" "0" "30" "X" "41420904" "41420904" "subst" "1.14966E-5" "02326" "CASK_000033" "g.41420904A>C" "" "" "" "CASK(NM_003688.3):c.1583-7T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41561651A>C" "" "likely benign" "" "0000252357" "0" "30" "X" "41448860" "41448860" "subst" "1.74639E-5" "02326" "CASK_000036" "g.41448860A>C" "" "" "" "CASK(NM_003688.3):c.1156-15T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41589607A>C" "" "likely benign" "" "0000253950" "0" "10" "X" "41448750" "41448750" "subst" "0.000629316" "01943" "CASK_000069" "g.41448750A>G" "" "" "" "CASK(NM_003688.3):c.1233+18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41589497A>G" "" "benign" "" "0000254273" "0" "30" "X" "41598703" "41598703" "subst" "0.0127758" "01943" "CASK_000048" "g.41598703A>G" "" "" "" "CASK(NM_003688.3):c.363T>C (p.Y121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41739450A>G" "" "likely benign" "" "0000256367" "0" "50" "X" "41555485" "41555485" "subst" "3.98536E-5" "01943" "CASK_000044" "g.41555485A>G" "" "" "" "GPR34(NM_001097579.2):c.599A>G (p.N200S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41696232A>G" "" "VUS" "" "0000269753" "0" "90" "X" "41414858" "41414858" "subst" "0" "02326" "CASK_000016" "g.41414858G>A" "" "" "" "CASK(NM_003688.3):c.1837C>T (p.R613*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41555605G>A" "" "pathogenic" "" "0000269754" "0" "30" "X" "41646514" "41646514" "subst" "2.24312E-5" "02326" "CASK_000051" "g.41646514G>A" "" "" "" "CASK(NM_003688.3):c.195C>T (p.I65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41787261G>A" "" "likely benign" "" "0000269755" "0" "30" "X" "41412957" "41412957" "subst" "0.00156388" "02326" "CASK_000031" "g.41412957C>T" "" "" "" "CASK(NM_003688.3):c.2039+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41553704C>T" "" "likely benign" "" "0000269756" "0" "30" "X" "41402068" "41402068" "subst" "0.00154868" "02326" "CASK_000030" "g.41402068T>C" "" "" "" "CASK(NM_003688.3):c.2040-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41542815T>C" "" "likely benign" "" "0000269758" "0" "10" "X" "41383311" "41383311" "dup" "0" "02326" "CASK_000023" "g.41383311dup" "" "" "" "CASK(NM_003688.3):c.2506-11dupT, CASK(NM_003688.4):c.2506-11dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41524058dup" "" "benign" "" "0000269759" "0" "10" "X" "41530567" "41530567" "subst" "0" "02326" "CASK_000039" "g.41530567G>T" "" "" "" "CASK(NM_003688.3):c.532+114C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41671314G>T" "" "benign" "" "0000269760" "0" "30" "X" "41530667" "41530667" "subst" "0" "02326" "CASK_000042" "g.41530667T>A" "" "" "" "CASK(NM_003688.3):c.532+14A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41671414T>A" "" "likely benign" "" "0000269761" "0" "30" "X" "41530666" "41530666" "subst" "0" "02326" "CASK_000041" "g.41530666T>A" "" "" "" "CASK(NM_003688.3):c.532+15A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41671413T>A" "" "likely benign" "" "0000269762" "0" "10" "X" "41530667" "41530667" "del" "0" "02326" "CASK_000040" "g.41530667del" "" "" "" "CASK(NM_003688.3):c.532+25delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41671414del" "" "benign" "" "0000272638" "0" "30" "X" "41469235" "41469235" "subst" "0.000952707" "01943" "CASK_000038" "g.41469235C>T" "" "" "" "CASK(NM_003688.3):c.1077G>A (p.A359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41609982C>T" "" "likely benign" "" "0000272639" "0" "30" "X" "41469208" "41469208" "subst" "0" "01943" "CASK_000037" "g.41469208T>C" "" "" "" "CASK(NM_003688.3):c.1104A>G (p.L368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41609955T>C" "" "likely benign" "" "0000272640" "0" "50" "X" "41429002" "41429002" "subst" "0" "01943" "CASK_000034" "g.41429002G>A" "" "" "" "CASK(NM_001367721.1):c.1504-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41569749G>A" "" "VUS" "" "0000272641" "0" "30" "X" "41646514" "41646514" "subst" "2.24312E-5" "01943" "CASK_000051" "g.41646514G>A" "" "" "" "CASK(NM_003688.3):c.195C>T (p.I65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41787261G>A" "" "likely benign" "" "0000272642" "0" "30" "X" "41390254" "41390254" "subst" "2.80491E-5" "01943" "CASK_000028" "g.41390254C>T" "" "" "" "CASK(NM_001367721.1):c.2520+6G>A, CASK(NM_003688.3):c.2505+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41531001C>T" "" "likely benign" "" "0000333816" "0" "50" "X" "41555836" "41555836" "subst" "1.69052E-5" "01804" "CASK_000045" "g.41555836C>T" "" "" "" "GPR34(NM_001097579.1):c.950C>T (p.(Ser317Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41696583C>T" "" "VUS" "" "0000333817" "0" "50" "X" "41586304" "41586304" "subst" "3.15169E-5" "01804" "CASK_000046" "g.41586304C>A" "" "" "" "CASK(NM_001126054.2):c.429+12333G>T (p.(=)), GPR82(NM_080817.4):c.25C>A (p.Q9K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41727051C>A" "" "VUS" "" "0000333818" "0" "50" "X" "41587153" "41587154" "del" "0" "01804" "CASK_000047" "g.41587153_41587154del" "" "" "" "CASK(NM_001126054.2):c.429+11487_429+11488del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41727900_41727901del" "" "VUS" "" "0000338057" "0" "90" "X" "41429000" "41429000" "subst" "0" "02327" "CASK_000056" "g.41429000C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41569747C>T" "" "pathogenic" "" "0000338058" "0" "90" "X" "41782241" "41782241" "subst" "0" "02327" "CASK_000064" "g.41782241T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41922988T>C" "" "pathogenic" "" "0000342490" "0" "90" "X" "41712461" "41712461" "subst" "0" "02327" "CASK_000062" "g.41712461G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41853208G>A" "" "pathogenic" "" "0000344281" "0" "90" "X" "41782197" "41782197" "subst" "0" "02327" "CASK_000063" "g.41782197G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41922944G>T" "" "pathogenic" "" "0000345446" "0" "90" "X" "41437676" "41437676" "subst" "0" "02327" "CASK_000058" "g.41437676C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41578423C>A" "" "pathogenic" "" "0000345561" "0" "90" "X" "41390319" "41390319" "subst" "0" "02327" "CASK_000053" "g.41390319C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41531066C>A" "" "pathogenic" "" "0000346101" "0" "90" "X" "41437664" "41437664" "subst" "0" "02327" "CASK_000057" "g.41437664C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41578411C>A" "" "pathogenic" "" "0000346138" "0" "70" "X" "41428941" "41428941" "subst" "0" "02327" "CASK_000055" "g.41428941C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41569688C>T" "" "likely pathogenic" "" "0000346992" "0" "50" "X" "41524600" "41524600" "subst" "0" "02327" "CASK_000060" "g.41524600A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41665347A>C" "" "VUS" "" "0000351183" "0" "70" "X" "41598636" "41598636" "subst" "0" "02327" "CASK_000061" "g.41598636C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41739383C>T" "" "likely pathogenic" "" "0000368184" "0" "90" "X" "41437788" "41437788" "subst" "0" "01835" "CASK_000065" "g.41437788T>C" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41578535T>C" "{CV:000611616}" "pathogenic" "" "0000368185" "0" "90" "X" "41712431" "41712431" "subst" "0" "01835" "CASK_000066" "g.41712431G>A" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41853178G>A" "{CV:000611617}" "pathogenic" "" "0000368186" "0" "70" "X" "41524612" "41524612" "subst" "0" "01835" "CASK_000067" "g.41524612A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.41665359A>G" "{CV:000611618}" "likely pathogenic" "" "0000368201" "0" "70" "X" "41393958" "41393958" "subst" "0" "01835" "CASK_000068" "g.41393958C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.41534705C>T" "{CV:000611619}" "likely pathogenic" "" "0000394094" "1" "50" "X" "41587218" "41587218" "subst" "0.810351" "00124" "CASK_000070" "g.41587218T>C" "24/208 cases" "{PMID:Tarpey 2009:19377476}" "" "D313D" "recurrent, found 24 times" "Germline" "" "" "0" "" "" "g.41727965T>C" "" "VUS" "" "0000408749" "0" "90" "X" "41413142" "41413142" "subst" "0" "00006" "CASK_000071" "g.41413142A>C" "" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "" "" "De novo" "" "" "0" "" "" "g.41553889A>C" "" "pathogenic (dominant)" "" "0000446094" "0" "90" "X" "41420838" "41420841" "del" "0" "01807" "CASK_000072" "g.41420838_41420841del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.41561585_41561588del" "" "pathogenic" "" "0000575983" "0" "50" "X" "41379814" "41379814" "subst" "0" "01943" "CASK_000073" "g.41379814G>T" "" "" "" "CASK(NM_003688.3):c.2625C>A (p.D875E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41520561G>T" "" "VUS" "" "0000575984" "0" "70" "X" "41379849" "41379849" "subst" "0" "02327" "CASK_000074" "g.41379849C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41520596C>A" "" "likely pathogenic" "" "0000575985" "0" "10" "X" "41383310" "41383311" "dup" "0" "01943" "CASK_000075" "g.41383310_41383311dup" "" "" "" "CASK(NM_003688.3):c.2506-12_2506-11dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41524057_41524058dup" "" "benign" "" "0000575986" "0" "10" "X" "41383311" "41383311" "dup" "0" "01943" "CASK_000023" "g.41383311dup" "" "" "" "CASK(NM_003688.3):c.2506-11dupT, CASK(NM_003688.4):c.2506-11dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41524058dup" "" "benign" "" "0000575987" "0" "10" "X" "41383311" "41383311" "dup" "0" "02325" "CASK_000023" "g.41383311dup" "" "" "" "CASK(NM_003688.3):c.2506-11dupT, CASK(NM_003688.4):c.2506-11dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41524058dup" "" "benign" "" "0000575988" "0" "90" "X" "41393958" "41393958" "subst" "0" "02325" "CASK_000068" "g.41393958C>T" "" "" "" "CASK(NM_003688.4):c.2302+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41534705C>T" "" "pathogenic" "" "0000575989" "0" "30" "X" "41394233" "41394233" "subst" "5.02453E-5" "01804" "CASK_000076" "g.41394233C>T" "" "" "" "CASK(NM_001126055.2):c.2069-7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41534980C>T" "" "likely benign" "" "0000575990" "0" "30" "X" "41413185" "41413185" "subst" "4.035E-5" "02326" "CASK_000077" "g.41413185C>T" "" "" "" "CASK(NM_003688.3):c.1843-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41553932C>T" "" "likely benign" "" "0000575992" "0" "50" "X" "41437658" "41437658" "subst" "0" "02329" "CASK_000079" "g.41437658T>C" "" "" "" "CASK(NM_003688.3):c.1438A>G (p.M480V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41578405T>C" "" "VUS" "" "0000575993" "0" "30" "X" "41446142" "41446142" "subst" "0.00229553" "02326" "CASK_000080" "g.41446142A>G" "" "" "" "CASK(NM_003688.3):c.1314+18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41586889A>G" "" "likely benign" "" "0000575994" "0" "10" "X" "41448750" "41448750" "subst" "0.000629316" "02326" "CASK_000069" "g.41448750A>G" "" "" "" "CASK(NM_003688.3):c.1233+18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41589497A>G" "" "benign" "" "0000575995" "0" "70" "X" "41448824" "41448825" "del" "0" "02327" "CASK_000081" "g.41448824_41448825del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41589571_41589572del" "" "likely pathogenic" "" "0000575996" "0" "10" "X" "41469284" "41469284" "subst" "0.0238447" "02330" "CASK_000082" "g.41469284G>A" "" "" "" "CASK(NM_001126054.2):c.1034-6C>T (p.(=)), CASK(NM_003688.3):c.1034-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41610031G>A" "" "benign" "" "0000575997" "0" "10" "X" "41469284" "41469284" "subst" "0.0238447" "01943" "CASK_000082" "g.41469284G>A" "" "" "" "CASK(NM_001126054.2):c.1034-6C>T (p.(=)), CASK(NM_003688.3):c.1034-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41610031G>A" "" "benign" "" "0000575998" "0" "30" "X" "41469284" "41469284" "subst" "0.0238447" "01804" "CASK_000082" "g.41469284G>A" "" "" "" "CASK(NM_001126054.2):c.1034-6C>T (p.(=)), CASK(NM_003688.3):c.1034-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41610031G>A" "" "likely benign" "" "0000575999" "0" "90" "X" "41495830" "41495830" "subst" "0" "02327" "CASK_000083" "g.41495830C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41636577C>T" "" "pathogenic" "" "0000576000" "0" "70" "X" "41530732" "41530732" "subst" "0" "02327" "CASK_000084" "g.41530732C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41671479C>T" "" "likely pathogenic" "" "0000576001" "0" "30" "X" "41555359" "41555359" "subst" "5.70692E-6" "01804" "CASK_000085" "g.41555359G>C" "" "" "" "GPR34(NM_001097579.1):c.473G>C (p.(Arg158Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41696106G>C" "" "likely benign" "" "0000619566" "0" "50" "X" "41390265" "41390265" "subst" "5.60375E-6" "01804" "CASK_000087" "g.41390265G>A" "" "" "" "CASK(NM_001126054.2):c.2431C>T (p.(Pro811Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41531012G>A" "" "VUS" "" "0000619567" "0" "50" "X" "41390265" "41390265" "subst" "5.60375E-6" "02327" "CASK_000087" "g.41390265G>A" "" "" "" "CASK(NM_001126054.2):c.2431C>T (p.(Pro811Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41531012G>A" "" "VUS" "" "0000619568" "0" "30" "X" "41429014" "41429014" "del" "0" "01943" "CASK_000035" "g.41429014del" "" "" "" "CASK(NM_003688.3):c.1504-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41569761del" "" "likely benign" "" "0000624617" "0" "30" "X" "41390347" "41390347" "subst" "0.000117452" "01943" "CASK_000088" "g.41390347G>A" "" "" "" "CASK(NM_003688.3):c.2418C>T (p.H806=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41531094G>A" "" "likely benign" "" "0000624618" "0" "30" "X" "41416297" "41416297" "subst" "0.00101376" "01943" "CASK_000089" "g.41416297G>A" "" "" "" "CASK(NM_001367721.1):c.1794C>T (p.N598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41557044G>A" "" "likely benign" "" "0000624619" "0" "50" "X" "41428921" "41428921" "subst" "0" "02329" "CASK_000090" "g.41428921C>T" "" "" "" "CASK(NM_003688.3):c.1582G>A (p.G528S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41569668C>T" "" "VUS" "" "0000624620" "0" "30" "X" "41530769" "41530769" "subst" "0" "01943" "CASK_000091" "g.41530769G>A" "" "" "" "CASK(NM_001367721.1):c.444C>T (p.L148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41671516G>A" "" "likely benign" "" "0000631824" "0" "70" "X" "41413159" "41413159" "subst" "0" "01469" "CASK_000108" "g.41413159T>C" "" "" "" "g.374129A>G" "" "De novo" "" "" "" "" "" "g.41553906T>C" "" "likely pathogenic" "" "0000631825" "0" "70" "X" "41394160" "41394161" "ins" "0" "01469" "CASK_000111" "g.41394160_41394161insCACTAGTCTTAGGAAAACAC" "" "" "" "g.393127_393128insGTGTTTTCCTAAGACTAGTG" "" "De novo" "" "" "" "" "" "g.41534907_41534908insCACTAGTCTTAGGAAAACAC" "" "pathogenic" "" "0000631827" "0" "70" "X" "41712367" "41712481" "dup" "0" "01469" "CASK_000098" "g.(41646537_41712367)_(41712481_41782182)dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.(41787284_41853114)_(41853228_41922929)dup" "" "likely pathogenic" "" "0000631828" "0" "70" "X" "41604817" "41604817" "subst" "0" "01469" "CASK_000100" "g.41604817G>A" "" "" "" "g.182471C>T" "" "De novo" "" "" "" "" "" "g.41745564G>A" "" "pathogenic" "" "0000631829" "0" "70" "X" "41420870" "41420870" "del" "0" "01469" "CASK_000107" "g.41420870del" "" "" "" "g.366418del" "" "De novo" "" "" "" "" "" "g.41561617del" "" "pathogenic" "" "0000631830" "0" "70" "X" "41485875" "41485876" "ins" "0" "01469" "CASK_000103" "g.41485875_41485876insA" "" "" "" "g.301412_301413insT" "" "Germline" "" "" "" "" "" "g.41626622_41626623insA" "" "likely pathogenic" "" "0000631831" "0" "70" "X" "41598694" "41598695" "del" "0" "01469" "CASK_000101" "g.41598694_41598695del" "" "" "" "g.188594_188595del" "" "De novo" "" "" "" "" "" "g.41739441_41739442del" "" "likely pathogenic" "" "0000631832" "0" "70" "X" "41712458" "41712458" "subst" "0" "01469" "CASK_000099" "g.41712458G>A" "" "" "" "g.74830C>T" "" "De novo" "" "" "" "" "" "g.41853205G>A" "" "pathogenic" "" "0000631833" "0" "70" "X" "41437596" "41437596" "dup" "0" "01469" "CASK_000106" "g.41437596dup" "" "" "" "g.349693dup" "" "De novo" "" "" "" "" "" "g.41578343dup" "" "pathogenic" "" "0000631834" "0" "70" "X" "41485856" "41495915" "del" "0" "01469" "CASK_000097" "g.(41481888_41485856)_(41495915_41519691)del" "" "" "" "del exons 9-10" "" "Germline" "" "" "0" "" "" "g.(41622635_41626603)_(41636662_41660438)del" "" "likely pathogenic" "" "0000631835" "0" "70" "X" "41530680" "41530784" "del" "0" "01469" "CASK_000096" "g.(41524706_41530680)_(41530784_41598636)del" "" "" "" "del exon 6" "" "Germline" "" "" "0" "" "" "g.(41665453_41671427)_(41671531_41739383)del" "" "likely pathogenic" "" "0000631836" "0" "70" "X" "41393958" "41393958" "subst" "0" "01469" "CASK_000068" "g.41393958C>T" "" "" "" "g.393330G>A" "" "Germline" "" "" "" "" "" "g.41534705C>T" "" "pathogenic" "" "0000631837" "0" "70" "X" "41390319" "41390319" "subst" "0" "01469" "CASK_000053" "g.41390319C>A" "" "" "" "g.396969G>T" "" "De novo" "" "" "" "" "" "g.41531066C>A" "" "pathogenic" "" "0000631838" "0" "70" "X" "41782182" "41782287" "del" "0" "01469" "CASK_000095" "g.(41712481_41782182)_(41782287_?)del" "" "" "" "del exon 1" "" "Germline" "" "" "0" "" "" "g.(41853228_41922929)_(41923034_?)del" "" "likely pathogenic" "" "0000631839" "0" "70" "X" "41782182" "41782287" "del" "0" "01469" "CASK_000095" "g.(41712481_41782182)_(41782287_?)del" "" "" "" "del exon 1" "" "Germline" "" "" "0" "" "" "g.(41853228_41922929)_(41923034_?)del" "" "likely pathogenic" "" "0000631840" "0" "70" "X" "41782182" "41782287" "del" "0" "01469" "CASK_000095" "g.(41712481_41782182)_(41782287_?)del" "" "" "" "del exon 1" "" "Germline" "" "" "0" "" "" "g.(41853228_41922929)_(41923034_?)del" "" "likely pathogenic" "" "0000631841" "0" "70" "X" "41413041" "41413041" "subst" "0" "01469" "CASK_000109" "g.41413041C>T" "" "" "" "g.374247G>A" "" "De novo" "" "" "" "" "" "g.41553788C>T" "" "pathogenic" "" "0000631842" "0" "70" "X" "41598636" "41604855" "del" "0" "01469" "CASK_000094" "g.(41530784_41598636)_(41604855_41646430)del" "" "" "" "del exons 4-5" "" "De novo" "" "" "0" "" "" "g.(41671531_41739383)_(41745602_41787177)del" "" "likely pathogenic" "" "0000631843" "21" "70" "X" "41394195" "41394197" "del" "0" "01469" "CASK_000110" "g.41394195_41394197del" "" "" "" "g.393095_393097del" "" "Germline" "" "" "" "" "" "g.41534942_41534944del" "" "likely pathogenic" "" "0000631844" "0" "70" "X" "41437596" "41437597" "del" "0" "01469" "CASK_000105" "g.41437596_41437597del" "" "" "" "g.349691_349692del" "" "De novo" "" "" "" "" "" "g.41578343_41578344del" "" "pathogenic" "" "0000631845" "0" "70" "X" "41394145" "41394145" "delins" "0" "01469" "CASK_000112" "g.41394145delinsAT" "" "" "" "g.393143delinsAT" "" "De novo" "" "" "" "" "" "g.41534892delinsAT" "" "pathogenic" "" "0000631846" "0" "70" "X" "41485856" "41485856" "subst" "0" "01469" "CASK_000104" "g.41485856C>T" "" "" "" "g.301432G>A" "" "De novo" "" "" "" "" "" "g.41626603C>T" "" "pathogenic" "" "0000631847" "0" "70" "X" "41495900" "41495900" "subst" "0" "01469" "CASK_000102" "g.41495900G>C" "" "" "" "g.291388C>G" "" "Germline" "" "" "" "" "" "g.41636647G>C" "" "pathogenic" "" "0000631848" "0" "70" "X" "41420871" "41420871" "subst" "0" "01469" "CASK_000011" "g.41420871G>A" "" "" "" "g.366417C>T" "" "De novo" "" "" "" "" "" "g.41561618G>A" "" "pathogenic" "" "0000631849" "0" "70" "X" "41374187" "41394212" "del" "0" "01469" "CASK_000093" "g.(?_41374187)_(41394212_41401943)del" "" "" "" "del exons 23-27" "" "Germline" "" "" "0" "" "" "g.(?_41514934)_(41534959_41542690)del" "" "likely pathogenic" "" "0000652916" "1" "90" "X" "41390295" "41390295" "subst" "0" "03575" "CASK_000113" "g.41390295G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587783364}" "Germline" "" "rs587783364" "0" "" "" "g.41531042G>A" "" "pathogenic" "" "0000652917" "1" "90" "X" "41524529" "41524529" "subst" "0" "03575" "CASK_000114" "g.41524529C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs587783368}" "Germline" "" "rs587783368" "0" "" "" "g.41665276C>T" "" "pathogenic" "" "0000652918" "1" "90" "X" "41782215" "41782222" "del" "0" "03575" "CASK_000115" "g.41782215_41782222del" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs587783362}" "Germline" "" "rs587783362" "0" "" "" "g.41922962_41922969del" "" "pathogenic" "" "0000659304" "0" "30" "X" "41419083" "41419083" "subst" "3.39874E-5" "02326" "CASK_000116" "g.41419083A>G" "" "" "" "CASK(NM_001367721.1):c.1686T>C (p.S562=), CASK(NM_003688.3):c.1686T>C (p.S562=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41559830A>G" "" "likely benign" "" "0000659305" "0" "70" "X" "41420810" "41420811" "ins" "0" "02327" "CASK_000117" "g.41420810_41420811insAA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41561557_41561558insAA" "" "likely pathogenic" "" "0000667201" "0" "70" "X" "41419090" "41419091" "ins" "0" "01164" "CASK_000118" "g.41419090_41419091insT" "" "" "" "" "ACMG grading: PVS1,PM2" "Germline" "" "" "0" "" "" "g.41559837_41559838insT" "" "likely pathogenic" "ACMG" "0000667498" "0" "90" "X" "41402034" "41402034" "subst" "0" "00006" "CASK_000119" "g.41402034T>A" "" "{PMID:Helbig 2016:26795593}" "" "" "" "De novo" "" "" "0" "" "" "g.41542781T>A" "" "pathogenic (dominant)" "ACMG" "0000682434" "0" "90" "X" "41437630" "41437630" "subst" "0" "02327" "CASK_000120" "g.41437630C>T" "" "" "" "CASK(NM_003688.3):c.1466G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000682435" "0" "50" "X" "41469236" "41469236" "subst" "0" "01804" "CASK_000121" "g.41469236G>A" "" "" "" "CASK(NM_001126054.2):c.1076C>T (p.(Ala359Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682436" "0" "30" "X" "41587109" "41587109" "subst" "1.71743E-5" "01943" "CASK_000122" "g.41587109A>G" "" "" "" "GPR82(NM_080817.4):c.830A>G (p.Q277R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693590" "0" "50" "X" "41437688" "41437688" "subst" "0" "01943" "CASK_000123" "g.41437688C>T" "" "" "" "CASK(NM_001367721.1):c.1408G>A (p.G470S), CASK(NM_003688.4):c.1408G>A (p.G470S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693591" "0" "50" "X" "41448766" "41448766" "subst" "0" "02327" "CASK_000124" "g.41448766A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000711853" "21" "70" "X" "41390298" "41390298" "subst" "0" "03974" "CASK_000132" "g.41390298C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.41531045C>T" "" "pathogenic" "" "0000711854" "21" "70" "X" "41712478" "41712478" "subst" "0" "03974" "CASK_000131" "g.41712478C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.41853225C>T" "" "pathogenic (dominant)" "ACMG" "0000711855" "0" "70" "X" "41646525" "41646525" "subst" "0" "03974" "CASK_000130" "g.41646525C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.41787272C>T" "" "pathogenic" "" "0000711856" "0" "70" "X" "41495888" "41495888" "subst" "0" "03974" "CASK_000129" "g.41495888A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.41636635A>C" "" "pathogenic" "" "0000711857" "0" "70" "X" "41469207" "41469207" "subst" "0" "03974" "CASK_000128" "g.41469207C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.41609954C>G" "" "likely pathogenic" "" "0000711858" "21" "90" "X" "41469205" "41469206" "ins" "0" "03974" "CASK_000127" "g.41469205_41469206insAGAG" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.41609952_41609953insAGAG" "" "pathogenic" "" "0000711859" "0" "70" "X" "41413158" "41413158" "subst" "0" "03974" "CASK_000126" "g.41413158C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.41553905C>T" "" "likely pathogenic" "" "0000711860" "0" "70" "X" "41413018" "41413018" "subst" "0" "03974" "CASK_000125" "g.41413018T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.41553765T>C" "" "likely pathogenic" "" "0000728901" "0" "30" "X" "41393980" "41393980" "subst" "1.1189E-5" "02327" "CASK_000133" "g.41393980G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728902" "0" "90" "X" "41402061" "41402061" "subst" "0" "02325" "CASK_000134" "g.41402061T>C" "" "" "" "CASK(NM_003688.4):c.2040-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000728903" "0" "90" "X" "41519791" "41519791" "del" "0" "01943" "CASK_000135" "g.41519791del" "" "" "" "CASK(NM_001367721.1):c.732delT (p.H244Qfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000728904" "0" "30" "X" "41586346" "41586346" "subst" "0" "01943" "CASK_000136" "g.41586346A>C" "" "" "" "GPR82(NM_080817.4):c.67A>C (p.I23L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000787438" "2" "90" "X" "41712461" "41712461" "subst" "0" "00000" "CASK_000062" "g.41712461G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.41853208G>A" "" "pathogenic" "" "0000787443" "1" "50" "X" "41379764" "41379764" "subst" "5.61255E-6" "00000" "CASK_000137" "g.41379764T>C" "" "0" "" "" "" "Germline" "" "rs762230615" "0" "" "" "g.41520511T>C" "" "VUS" "" "0000810393" "0" "50" "X" "41485880" "41485880" "subst" "0" "01943" "CASK_000138" "g.41485880A>G" "" "" "" "CASK(NM_001367721.1):c.992T>C (p.F331S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000817896" "3" "50" "X" "41416344" "41416344" "subst" "0" "00006" "CASK_000139" "g.41416344G>C" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.41557091G>C" "" "VUS" "ACMG" "0000817914" "3" "50" "X" "41519706" "41519706" "subst" "0" "00006" "CASK_000140" "g.41519706G>A" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.41660453G>A" "" "VUS" "ACMG" "0000856610" "0" "50" "X" "41401950" "41401950" "subst" "0" "01943" "CASK_000141" "g.41401950T>C" "" "" "" "CASK(NM_001367721.1):c.2149A>G (p.N717D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856611" "0" "30" "X" "41448815" "41448815" "subst" "5.05837E-5" "01943" "CASK_000142" "g.41448815G>A" "" "" "" "CASK(NM_001367721.1):c.1186C>T (p.P396S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856612" "0" "50" "X" "41586304" "41586304" "subst" "3.15169E-5" "01943" "CASK_000046" "g.41586304C>A" "" "" "" "CASK(NM_001126054.2):c.429+12333G>T (p.(=)), GPR82(NM_080817.4):c.25C>A (p.Q9K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867372" "0" "30" "X" "41419083" "41419083" "subst" "3.39874E-5" "01943" "CASK_000116" "g.41419083A>G" "" "" "" "CASK(NM_001367721.1):c.1686T>C (p.S562=), CASK(NM_003688.3):c.1686T>C (p.S562=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867373" "0" "50" "X" "41481894" "41481894" "subst" "0" "01943" "CASK_000143" "g.41481894G>C" "" "" "" "CASK(NM_003688.3):c.1016-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000870082" "0" "90" "X" "41383293" "41383293" "subst" "0" "03178" "CASK_000144" "g.41383293T>C" "" "" "" "" "variant in patient induced two alternative splicing events that account for the 80% of the total transcripts, and likely to give rise to truncated proteins subjected to NMD" "De novo" "" "" "0" "" "" "g.41524040T>C" "" "pathogenic" "ACMG" "0000877875" "0" "70" "X" "41393957" "41393957" "subst" "0" "00000" "CASK_000004" "g.41393957A>C" "" "{PMID:Rump 2016:26846091}" "" "CASK c.2302 + 2 T > G, p.?" "heterozygous" "De novo" "?" "" "0" "" "" "g.41534704A>C" "" "likely pathogenic" "" "0000881785" "0" "90" "X" "41712461" "41712461" "subst" "0" "00006" "CASK_000062" "g.41712461G>A" "" "{PMID:Patel 2022:35149592}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000896227" "0" "90" "X" "41437631" "41437631" "subst" "0" "02329" "CASK_000145" "g.41437631G>A" "" "" "" "CASK(NM_001367721.1):c.1465C>T (p.R489W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000896228" "0" "70" "X" "41604776" "41604776" "subst" "0" "02327" "CASK_000146" "g.41604776C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000896229" "0" "70" "X" "41604817" "41604817" "subst" "0" "02327" "CASK_000100" "g.41604817G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000903133" "0" "50" "X" "41712367" "41712367" "subst" "0" "03779" "CASK_000147" "g.41712367C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000922682" "0" "90" "X" "41419084" "41419084" "dup" "0" "00006" "CASK_000148" "g.41419084dup" "" "{PMID:Gostain 2020:32960281}" "" "" "" "De novo" "" "" "0" "" "" "g.41559831dup" "" "pathogenic (dominant)" "" "0000927369" "0" "50" "X" "41401976" "41401976" "subst" "5.59992E-6" "02325" "CASK_000149" "g.41401976T>C" "" "" "" "CASK(NM_003688.4):c.2123A>G (p.Y708C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006755" "0" "50" "X" "41383235" "41383235" "subst" "0" "01804" "CASK_000150" "g.41383235G>A" "" "" "" "CASK(NM_001126055.2):c.2486C>T (p.(Ala829Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006756" "0" "30" "X" "41446204" "41446204" "subst" "0" "01804" "CASK_000151" "g.41446204C>T" "" "" "" "CASK(NM_003688.3):c.1270G>A (p.(Asp424Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006757" "0" "50" "X" "41586722" "41586722" "subst" "0" "01804" "CASK_000152" "g.41586722A>T" "" "" "" "GPR82(NM_080817.4):c.443A>T (p.(Gln148Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001011522" "0" "70" "X" "41712463" "41712463" "subst" "0" "01164" "CASK_000153" "g.41712463A>T" "" "" "" "" "ACMG: PM1, PP3_MOD, PS2_SUP, PM2_SUP, confirmed de novo" "De novo" "-" "" "" "" "" "g.41853210A>T" "" "likely pathogenic (recessive)" "ACMG" "0001027496" "0" "30" "X" "41390338" "41390338" "subst" "0.00197438" "01943" "CASK_000154" "g.41390338C>T" "" "" "" "CASK(NM_003688.3):c.2427G>A (p.A809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027497" "0" "50" "X" "41437688" "41437688" "subst" "0" "02325" "CASK_000123" "g.41437688C>T" "" "" "" "CASK(NM_001367721.1):c.1408G>A (p.G470S), CASK(NM_003688.4):c.1408G>A (p.G470S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001029797" "21" "90" "X" "41414858" "41414858" "subst" "0" "04459" "CASK_000016" "g.41414858G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.41555605G>A" "" "pathogenic (recessive)" "" "0001044332" "0" "30" "X" "41470966" "41470966" "subst" "0" "01804" "CASK_000155" "g.41470966T>A" "" "" "" "CASK(NM_001367721.1):c.1034-1688A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044333" "0" "30" "X" "41471000" "41471000" "subst" "0" "01804" "CASK_000156" "g.41471000G>C" "" "" "" "CASK(NM_001367721.1):c.1034-1722C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044334" "0" "30" "X" "41472359" "41472359" "del" "0" "01804" "CASK_000157" "g.41472359del" "" "" "" "CASK(NM_001367721.1):c.1034-3079del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001048007" "0" "90" "X" "41524528" "41524528" "subst" "0" "03544" "CASK_000158" "g.41524528A>C" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.41665275A>C" "{CV:4087720}" "pathogenic" "ACMG" ## 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 CASK ## Count = 175 "{{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}}" "0000001875" "00000345" "50" "532" "25" "532" "25" "c.532+25dup" "r.(=)" "p.(=)" "" "0000002899" "00000345" "50" "532" "25" "532" "25" "c.532+25dup" "r.(=)" "p.(=)" "" "0000006637" "00000345" "50" "2039" "243" "2039" "243" "c.2039+243A>G" "r.(=)" "p.(=)" "" "0000006638" "00000345" "50" "430" "-18160" "430" "-18160" "c.430-18160A>G" "r.(=)" "p.(=)" "" "0000008693" "00000345" "50" "1806" "51" "1806" "51" "c.1806+51A>C" "r.(=)" "p.(=)" "" "0000008694" "00000345" "50" "1016" "-247" "1016" "-247" "c.1016-247dup" "r.(=)" "p.(=)" "" "0000008695" "00000345" "50" "532" "25" "532" "25" "c.532+25dup" "r.(=)" "p.(=)" "" "0000008696" "00000345" "50" "532" "24" "532" "25" "c.532+24_532+25dup" "r.(=)" "p.(=)" "" "0000008697" "00000345" "50" "430" "-18160" "430" "-18160" "c.430-18160A>G" "r.(=)" "p.(=)" "" "0000010898" "00000345" "50" "1016" "-246" "1016" "-246" "c.1016-246del" "r.(=)" "p.(=)" "" "0000010899" "00000345" "50" "532" "25" "532" "25" "c.532+25dup" "r.(=)" "p.(=)" "" "0000079304" "00000345" "00" "532" "2768" "831" "9967" "c.532+2768_831+9967dup" "r.?" "p.?" "" "0000079360" "00000345" "00" "1837" "0" "1837" "0" "c.1837C>T" "r.(?)" "p.(Arg613Ter)" "" "0000079427" "00000345" "00" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Ter)" "" "0000079449" "00000345" "00" "-1959630" "0" "278" "109" "c.-1959630_278+109del" "" "" "" "0000079512" "00000345" "00" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Arg255Cys)" "" "0000079569" "00000345" "00" "831" "1" "831" "1" "c.831+1G>A" "r.spl?" "p.?" "" "0000079603" "00000345" "00" "1874" "0" "1874" "0" "c.1874C>T" "r.(?)" "p.(Pro625Leu)" "" "0000087510" "00000345" "70" "2302" "2" "2302" "2" "c.2302+2T>G" "r.spl?" "p.?" "24i" "0000179016" "00000345" "90" "68" "0" "68" "0" "c.68del" "r.(?)" "p.(Phe23Serfs*18)" "" "0000179305" "00000345" "30" "1392" "0" "1392" "0" "c.1392C>T" "r.(?)" "p.(Thr464=)" "?" "0000179306" "00000345" "50" "2129" "0" "2129" "0" "c.2129A>G" "r.(?)" "p.((asp710Gly)" "?" "0000179307" "00000345" "50" "802" "0" "802" "0" "c.802T>C" "r.(?)" "p.(Tyr268His)" "?" "0000236478" "00000345" "90" "37" "0" "37" "0" "c.37G>T" "r.(?)" "p.(Glu13*)" "" "0000247746" "00000345" "10" "2506" "-11" "2506" "-11" "c.2506-11del" "r.(=)" "p.(=)" "" "0000249589" "00000345" "30" "532" "25" "532" "25" "c.532+25dup" "r.(=)" "p.(=)" "" "0000249724" "00000345" "50" "294" "0" "294" "0" "c.294T>G" "r.(?)" "p.(Asp98Glu)" "" "0000250504" "00000345" "70" "2134" "0" "2134" "0" "c.2134T>C" "r.(?)" "p.(Tyr712His)" "" "0000251675" "00000345" "10" "2506" "-12" "2506" "-12" "c.2506-12T>C" "r.(=)" "p.(=)" "" "0000251676" "00000345" "30" "2506" "-11" "2506" "-11" "c.2506-11del" "r.(=)" "p.(=)" "" "0000251677" "00000345" "10" "430" "-257" "430" "-257" "c.430-257T>A" "r.(=)" "p.(=)" "" "0000251678" "00000345" "10" "279" "-6" "279" "-6" "c.279-6T>A" "r.(=)" "p.(=)" "" "0000252356" "00000345" "30" "1583" "-7" "1583" "-7" "c.1583-7T>G" "r.(=)" "p.(=)" "" "0000252357" "00000345" "30" "1156" "-15" "1156" "-15" "c.1156-15T>G" "r.(=)" "p.(=)" "" "0000253950" "00000345" "10" "1233" "18" "1233" "18" "c.1233+18T>C" "r.(=)" "p.(=)" "" "0000254273" "00000345" "30" "363" "0" "363" "0" "c.363T>C" "r.(?)" "p.(Tyr121=)" "" "0000256367" "00000345" "50" "430" "-24702" "430" "-24702" "c.430-24702T>C" "r.(=)" "p.(=)" "" "0000269753" "00000345" "90" "1837" "0" "1837" "0" "c.1837C>T" "r.(?)" "p.(Arg613Ter)" "" "0000269754" "00000345" "30" "195" "0" "195" "0" "c.195C>T" "r.(?)" "p.(Ile65=)" "" "0000269755" "00000345" "30" "2039" "15" "2039" "15" "c.2039+15G>A" "r.(=)" "p.(=)" "" "0000269756" "00000345" "30" "2040" "-9" "2040" "-9" "c.2040-9A>G" "r.(=)" "p.(=)" "" "0000269758" "00000345" "10" "2506" "-11" "2506" "-11" "c.2506-11dup" "r.(=)" "p.(=)" "" "0000269759" "00000345" "10" "532" "114" "532" "114" "c.532+114C>A" "r.(=)" "p.(=)" "" "0000269760" "00000345" "30" "532" "14" "532" "14" "c.532+14A>T" "r.(=)" "p.(=)" "" "0000269761" "00000345" "30" "532" "15" "532" "15" "c.532+15A>T" "r.(=)" "p.(=)" "" "0000269762" "00000345" "10" "532" "25" "532" "25" "c.532+25del" "r.(=)" "p.(=)" "" "0000272638" "00000345" "30" "1077" "0" "1077" "0" "c.1077G>A" "r.(?)" "p.(Ala359=)" "" "0000272639" "00000345" "30" "1104" "0" "1104" "0" "c.1104A>G" "r.(?)" "p.(Leu368=)" "" "0000272640" "00000345" "50" "1504" "-3" "1504" "-3" "c.1504-3C>T" "r.spl?" "p.?" "" "0000272641" "00000345" "30" "195" "0" "195" "0" "c.195C>T" "r.(?)" "p.(Ile65=)" "" "0000272642" "00000345" "30" "2505" "6" "2505" "6" "c.2505+6G>A" "r.(=)" "p.(=)" "" "0000333816" "00000345" "50" "430" "-25053" "430" "-25053" "c.430-25053G>A" "r.(=)" "p.(=)" "" "0000333817" "00000345" "50" "429" "12333" "429" "12333" "c.429+12333G>T" "r.(=)" "p.(=)" "" "0000333818" "00000345" "50" "429" "11487" "429" "11488" "c.429+11487_429+11488del" "r.(=)" "p.(=)" "" "0000338057" "00000345" "90" "1504" "-1" "1504" "-1" "c.1504-1G>A" "r.spl?" "p.?" "" "0000338058" "00000345" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000342490" "00000345" "90" "79" "0" "79" "0" "c.79C>T" "r.(?)" "p.(Arg27Ter)" "" "0000344281" "00000345" "90" "45" "0" "45" "0" "c.45C>A" "r.(?)" "p.(Cys15Ter)" "" "0000345446" "00000345" "90" "1420" "0" "1420" "0" "c.1420G>T" "r.(?)" "p.(Glu474Ter)" "" "0000345561" "00000345" "90" "2446" "0" "2446" "0" "c.2446G>T" "r.(?)" "p.(Glu816Ter)" "" "0000346101" "00000345" "90" "1432" "0" "1432" "0" "c.1432G>T" "r.(?)" "p.(Gly478Ter)" "" "0000346138" "00000345" "70" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Gly521Glu)" "" "0000346992" "00000345" "50" "638" "0" "638" "0" "c.638T>G" "r.(?)" "p.(Leu213Arg)" "" "0000351183" "00000345" "70" "429" "1" "429" "1" "c.429+1G>A" "r.spl?" "p.?" "" "0000368184" "00000345" "90" "1315" "-7" "1315" "-7" "c.1315-7A>G" "r.(1314_1315ins1315-6_1315-1)" "p.(Als439Hisfs2*)" "14i" "0000368185" "00000345" "90" "109" "0" "109" "0" "c.109C>T" "r.(?)" "p.(Gln37*)" "" "0000368186" "00000345" "70" "626" "0" "626" "0" "c.626T>C" "r.(?)" "p.(Leu209Pro)" "" "0000368201" "00000345" "70" "2302" "1" "2302" "1" "c.2302+1G>A" "r.2222_2302del" "p.Gly741_His768delinsAsp" "24i" "0000394094" "00000345" "00" "429" "11419" "429" "11419" "c.429+11419A>G" "r.(=)" "p.(=)" "" "0000408749" "00000345" "90" "1869" "0" "1869" "0" "c.1869T>G" "r.(?)" "p.(Tyr623*)" "19" "0000446094" "00000345" "90" "1641" "0" "1644" "0" "c.1641_1644del" "r.(?)" "p.(Thr548Trpfs*69)" "" "0000575983" "00000345" "50" "2625" "0" "2625" "0" "c.2625C>A" "r.(?)" "p.(Asp875Glu)" "" "0000575984" "00000345" "70" "2590" "0" "2590" "0" "c.2590G>T" "r.(?)" "p.(Asp864Tyr)" "" "0000575985" "00000345" "10" "2506" "-12" "2506" "-11" "c.2506-12_2506-11dup" "r.(=)" "p.(=)" "" "0000575986" "00000345" "10" "2506" "-11" "2506" "-11" "c.2506-11dup" "r.(=)" "p.(=)" "" "0000575987" "00000345" "10" "2506" "-11" "2506" "-11" "c.2506-11dup" "r.(=)" "p.(=)" "" "0000575988" "00000345" "90" "2302" "1" "2302" "1" "c.2302+1G>A" "r.spl?" "p.?" "" "0000575989" "00000345" "30" "2156" "-22" "2156" "-22" "c.2156-22G>A" "r.(=)" "p.(=)" "" "0000575990" "00000345" "30" "1843" "-17" "1843" "-17" "c.1843-17G>A" "r.(=)" "p.(=)" "" "0000575992" "00000345" "50" "1438" "0" "1438" "0" "c.1438A>G" "r.(?)" "p.(Met480Val)" "" "0000575993" "00000345" "30" "1314" "18" "1314" "18" "c.1314+18T>C" "r.(=)" "p.(=)" "" "0000575994" "00000345" "10" "1233" "18" "1233" "18" "c.1233+18T>C" "r.(=)" "p.(=)" "" "0000575995" "00000345" "70" "1177" "0" "1178" "0" "c.1177_1178del" "r.(?)" "p.(Lys393ValfsTer28)" "" "0000575996" "00000345" "10" "1034" "-6" "1034" "-6" "c.1034-6C>T" "r.(=)" "p.(=)" "" "0000575997" "00000345" "10" "1034" "-6" "1034" "-6" "c.1034-6C>T" "r.(=)" "p.(=)" "" "0000575998" "00000345" "30" "1034" "-6" "1034" "-6" "c.1034-6C>T" "r.(=)" "p.(=)" "" "0000575999" "00000345" "90" "915" "1" "915" "1" "c.915+1G>A" "r.spl?" "p.?" "" "0000576000" "00000345" "70" "481" "0" "481" "0" "c.481G>A" "r.(?)" "p.(Gly161Arg)" "" "0000576001" "00000345" "30" "430" "-24576" "430" "-24576" "c.430-24576C>G" "r.(=)" "p.(=)" "" "0000619566" "00000345" "50" "2500" "0" "2500" "0" "c.2500C>T" "r.(?)" "p.(Pro834Ser)" "" "0000619567" "00000345" "50" "2500" "0" "2500" "0" "c.2500C>T" "r.(?)" "p.(Pro834Ser)" "" "0000619568" "00000345" "30" "1504" "-6" "1504" "-6" "c.1504-6del" "r.(=)" "p.(=)" "" "0000624617" "00000345" "30" "2418" "0" "2418" "0" "c.2418C>T" "r.(?)" "p.(His806=)" "" "0000624618" "00000345" "30" "1794" "0" "1794" "0" "c.1794C>T" "r.(?)" "p.(Asn598=)" "" "0000624619" "00000345" "50" "1582" "0" "1582" "0" "c.1582G>A" "r.(?)" "p.(Gly528Ser)" "" "0000624620" "00000345" "30" "444" "0" "444" "0" "c.444C>T" "r.(?)" "p.(Leu148=)" "" "0000631824" "00000345" "70" "1852" "0" "1852" "0" "c.1852A>G" "r.(?)" "p.(Arg618Gly)" "" "0000631825" "00000345" "70" "2206" "0" "2207" "0" "c.2206_2207insGTGTTTTCCTAAGACTAGTG" "r.(?)" "p.(Thr736Serfs*9)" "" "0000631827" "00000345" "70" "60" "-1" "172" "1" "c.(59+1_60-1)_(172+1_173-1)dup" "r.?" "p.?" "1i_2i" "0000631828" "00000345" "70" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Arg106*)" "" "0000631829" "00000345" "70" "1610" "0" "1610" "0" "c.1610del" "r.(?)" "p.(Arg537Glnfs*81)" "" "0000631830" "00000345" "70" "996" "0" "997" "0" "c.996_997insT" "r.(?)" "p.(Glu333*)" "" "0000631831" "00000345" "70" "372" "0" "373" "0" "c.372_373del" "r.(?)" "p.(Gln124Hisfs*10)" "" "0000631832" "00000345" "70" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Arg28*)" "" "0000631833" "00000345" "70" "1501" "0" "1501" "0" "c.1501dup" "r.(?)" "p.(Met501Asnfs*9)" "" "0000631834" "00000345" "70" "832" "-1" "1015" "1" "c.(831+1_832-1)_(1015+1_1016-1)del" "r.?" "p.?" "8i_10i" "0000631835" "00000345" "70" "430" "-1" "532" "1" "c.(429+1_430-1)_(532+1_533-1)del" "r.?" "p.?" "5i_6i" "0000631836" "00000345" "70" "2302" "1" "2302" "1" "c.2302+1G>A" "r.spl?" "p.?" "" "0000631837" "00000345" "70" "2446" "0" "2446" "0" "c.2446G>T" "r.(?)" "p.(Glu816*)" "" "0000631838" "00000345" "70" "-46" "0" "59" "1" "c.(?_-46)_(59+1_60-1)del" "r.?" "p.?" "_1_1i" "0000631839" "00000345" "70" "-46" "0" "59" "1" "c.(?_-46)_(59+1_60-1)del" "r.?" "p.?" "_1_1i" "0000631840" "00000345" "70" "-46" "0" "59" "1" "c.(?_-46)_(59+1_60-1)del" "r.(?)" "?" "_1_1i" "0000631841" "00000345" "70" "1970" "0" "1970" "0" "c.1970G>A" "r.(?)" "p.(Trp657*)" "" "0000631842" "00000345" "70" "279" "-1" "429" "1" "c.(278+1_279-1)_(429+1_430-1)del" "r.?" "p.?" "3i_5i" "0000631843" "00000345" "70" "2174" "0" "2176" "0" "c.2174_2176del" "r.(?)" "p.(Glu725del)" "" "0000631844" "00000345" "70" "1499" "0" "1500" "0" "c.1499_1500del" "r.(?)" "p.(Pro500Hisfs*9)" "" "0000631845" "00000345" "70" "2221" "1" "2221" "1" "c.2221+1delinsAT" "r.spl?" "p.?" "" "0000631846" "00000345" "70" "1015" "1" "1015" "1" "c.1015+1G>A" "r.spl?" "p.?" "" "0000631847" "00000345" "70" "846" "0" "846" "0" "c.846C>G" "r.(?)" "p.(Tyr282*)" "" "0000631848" "00000345" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537*)" "" "0000631849" "00000345" "70" "2156" "-1" "8252" "0" "c.(2155+1_2156-1)_(*5486_?)del" "r.?" "p.?" "22i_27i" "0000652916" "00000345" "90" "2470" "0" "2470" "0" "c.2470C>T" "r.(?)" "p.(Gln824*)" "" "0000652917" "00000345" "90" "708" "1" "708" "1" "c.708+1G>A" "r.spl?" "p.?" "" "0000652918" "00000345" "90" "20" "0" "27" "0" "c.20_27del" "r.(?)" "p.(Leu7Argfs*35)" "" "0000659304" "00000345" "30" "1686" "0" "1686" "0" "c.1686T>C" "r.(?)" "p.(Ser562=)" "" "0000659305" "00000345" "70" "1668" "2" "1668" "3" "c.1668+2_1668+3insTT" "r.spl?" "p.?" "" "0000667201" "00000345" "70" "1678" "0" "1679" "0" "c.1678_1679insA" "r.(?)" "p.(Arg560Glnfs*20)" "" "0000667498" "00000345" "90" "2065" "0" "2065" "0" "c.2065A>T" "r.(?)" "p.(Lys689*)" "" "0000682434" "00000345" "90" "1466" "0" "1466" "0" "c.1466G>A" "r.(?)" "p.(Arg489Gln)" "" "0000682435" "00000345" "50" "1076" "0" "1076" "0" "c.1076C>T" "r.(?)" "p.(Ala359Val)" "" "0000682436" "00000345" "30" "429" "11528" "429" "11528" "c.429+11528T>C" "r.(=)" "p.(=)" "" "0000693590" "00000345" "50" "1408" "0" "1408" "0" "c.1408G>A" "r.(?)" "p.(Gly470Ser)" "" "0000693591" "00000345" "50" "1233" "2" "1233" "2" "c.1233+2T>C" "r.spl?" "p.?" "" "0000711853" "00000345" "70" "2467" "0" "2467" "0" "c.2467G>A" "r.(?)" "p.(Glu823Lys)" "" "0000711854" "00000345" "70" "62" "0" "62" "0" "c.62G>A" "r.(?)" "p.(Gly21Asp)" "" "0000711855" "00000345" "70" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Glu62Lys)" "" "0000711856" "00000345" "70" "858" "0" "858" "0" "c.858T>G" "r.(?)" "p.(Ile286Met)" "" "0000711857" "00000345" "70" "1105" "0" "1105" "0" "c.1105G>C" "r.(?)" "p.(Asp369His)" "" "0000711858" "00000345" "90" "1106" "0" "1107" "0" "c.1106_1107insCTCT" "r.(?)" "p.(Phe370Serfs*20)" "" "0000711859" "00000345" "70" "1853" "0" "1853" "0" "c.1853G>A" "r.(?)" "p.(Arg618Lys)" "" "0000711860" "00000345" "70" "1993" "0" "1993" "0" "c.1993A>G" "r.(?)" "p.(Lys665Glu)" "" "0000728901" "00000345" "30" "2281" "0" "2281" "0" "c.2281C>T" "r.(?)" "p.(Arg761Trp)" "" "0000728902" "00000345" "90" "2040" "-2" "2040" "-2" "c.2040-2A>G" "r.spl?" "p.?" "" "0000728903" "00000345" "90" "732" "0" "732" "0" "c.732del" "r.(?)" "p.(His244Glnfs*9)" "" "0000728904" "00000345" "30" "429" "12291" "429" "12291" "c.429+12291T>G" "r.(=)" "p.(=)" "" "0000787438" "00000345" "90" "79" "0" "79" "0" "c.79C>T" "r.(?)" "p.(Arg27Ter)" "2" "0000787443" "00000345" "50" "2675" "0" "2675" "0" "c.2675A>G" "r.(?)" "p.(Asn892Ser)" "27" "0000810393" "00000345" "50" "992" "0" "992" "0" "c.992T>C" "r.(?)" "p.(Phe331Ser)" "" "0000817896" "00000345" "50" "1747" "0" "1747" "0" "c.1747C>G" "r.(?)" "p.(Pro583Ala)" "" "0000817914" "00000345" "50" "817" "0" "817" "0" "c.817C>T" "r.(?)" "p.(His273Tyr)" "" "0000856610" "00000345" "50" "2149" "0" "2149" "0" "c.2149A>G" "r.(?)" "p.(Asn717Asp)" "" "0000856611" "00000345" "30" "1186" "0" "1186" "0" "c.1186C>T" "r.(?)" "p.(Pro396Ser)" "" "0000856612" "00000345" "50" "429" "12333" "429" "12333" "c.429+12333G>T" "r.(=)" "p.(=)" "" "0000867372" "00000345" "30" "1686" "0" "1686" "0" "c.1686T>C" "r.(?)" "p.(Ser562=)" "" "0000867373" "00000345" "50" "1016" "-7" "1016" "-7" "c.1016-7C>G" "r.(=)" "p.(=)" "" "0000870082" "00000345" "90" "2506" "-6" "2506" "-6" "c.2506-6A>G" "r.[2505_2506ins2506-5_2506-1;2589_2702delins2589+1_2589+171]" "p.[Ala836HisfsTer4;Asp864ValfsTer10]" "" "0000877875" "00000345" "70" "2302" "2" "2302" "2" "c.2302+2T>G" "r.(?)" "p.(?)" "X" "0000881785" "00000345" "90" "79" "0" "79" "0" "c.79C>T" "r.(?)" "p.(Arg27*)" "" "0000896227" "00000345" "90" "1465" "0" "1465" "0" "c.1465C>T" "r.(?)" "p.(Arg489Trp)" "" "0000896228" "00000345" "70" "356" "1" "356" "1" "c.356+1G>A" "r.spl?" "p.?" "" "0000896229" "00000345" "70" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Arg106*)" "" "0000903133" "00000345" "50" "172" "1" "172" "1" "c.172+1G>A" "r.(?)" "p.(?)" "" "0000922682" "00000345" "90" "1685" "0" "1685" "0" "c.1685dup" "r.(?)" "p.(Ser562ArgfsTer18)" "" "0000927369" "00000345" "50" "2123" "0" "2123" "0" "c.2123A>G" "r.(?)" "p.(Tyr708Cys)" "" "0001006755" "00000345" "50" "2558" "0" "2558" "0" "c.2558C>T" "r.(?)" "p.(Ala853Val)" "" "0001006756" "00000345" "30" "1270" "0" "1270" "0" "c.1270G>A" "r.(?)" "p.(Asp424Asn)" "" "0001006757" "00000345" "50" "429" "11915" "429" "11915" "c.429+11915T>A" "r.(=)" "p.(=)" "" "0001011522" "00000345" "70" "77" "0" "77" "0" "c.77T>A" "r.?" "p.(Val26Glu)" "Ex2" "0001027496" "00000345" "30" "2427" "0" "2427" "0" "c.2427G>A" "r.(?)" "p.(Ala809=)" "" "0001027497" "00000345" "50" "1408" "0" "1408" "0" "c.1408G>A" "r.(?)" "p.(Gly470Ser)" "" "0001029797" "00000345" "90" "1837" "0" "1837" "0" "c.1837C>T" "r.(?)" "p.(Arg613*)" "" "0001044332" "00000345" "30" "1034" "-1688" "1034" "-1688" "c.1034-1688A>T" "r.(=)" "p.(=)" "" "0001044333" "00000345" "30" "1034" "-1722" "1034" "-1722" "c.1034-1722C>G" "r.(=)" "p.(=)" "" "0001044334" "00000345" "30" "1034" "-3079" "1034" "-3079" "c.1034-3079del" "r.(=)" "p.(=)" "" "0001048007" "00000345" "90" "708" "2" "708" "2" "c.708+2T>G" "r.spl" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 81 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001875" "0000000209" "0000002899" "0000000209" "0000006637" "0000000209" "0000006638" "0000000210" "0000008693" "0000000210" "0000008694" "0000000210" "0000008695" "0000000210" "0000008696" "0000000210" "0000008697" "0000000210" "0000010898" "0000000210" "0000010899" "0000050324" "0000079304" "0000050380" "0000079360" "0000050447" "0000079427" "0000050469" "0000079449" "0000050532" "0000079512" "0000050589" "0000079569" "0000050623" "0000079603" "0000057218" "0000087510" "0000111858" "0000179016" "0000112149" "0000179305" "0000112150" "0000179306" "0000112151" "0000179307" "0000145365" "0000236478" "0000164623" "0000368184" "0000164624" "0000368185" "0000164625" "0000368186" "0000164628" "0000368201" "0000164644" "0000368184" "0000173855" "0000394094" "0000184626" "0000408749" "0000214162" "0000446094" "0000277093" "0000631824" "0000277095" "0000631825" "0000277096" "0000631827" "0000277097" "0000631828" "0000277098" "0000631829" "0000277099" "0000631830" "0000277100" "0000631831" "0000277101" "0000631832" "0000277102" "0000631833" "0000277103" "0000631834" "0000277104" "0000631835" "0000277105" "0000631836" "0000277106" "0000631837" "0000277107" "0000631838" "0000277108" "0000631839" "0000277109" "0000631840" "0000277110" "0000631841" "0000277111" "0000631842" "0000277112" "0000631843" "0000277113" "0000631844" "0000277114" "0000631845" "0000277115" "0000631846" "0000277116" "0000631847" "0000277117" "0000631848" "0000277118" "0000631849" "0000296227" "0000652916" "0000296228" "0000652917" "0000296229" "0000652918" "0000303806" "0000667201" "0000304100" "0000667498" "0000328020" "0000711853" "0000328021" "0000711854" "0000328022" "0000711855" "0000328023" "0000711856" "0000328024" "0000711857" "0000328025" "0000711858" "0000328026" "0000711859" "0000328027" "0000711860" "0000375373" "0000787438" "0000375384" "0000787443" "0000389103" "0000817896" "0000389121" "0000817914" "0000412719" "0000870082" "0000418132" "0000877875" "0000421173" "0000881785" "0000436320" "0000922682" "0000457078" "0001011522" "0000465986" "0001029797" "0000468248" "0001048007"