### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CAMTA1) # 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}}" "CAMTA1" "calmodulin binding transcription activator 1" "1" "p36.31-p36.23" "unknown" "NG_053148.1" "UD_132319014521" "" "https://www.LOVD.nl/CAMTA1" "" "1" "18806" "23261" "611501" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/CAMTA1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2019-11-27 10:16:13" "00000" "2026-01-20 18:57:21" ## 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}}" "00001075" "CAMTA1" "transcript variant 1" "001" "NM_015215.2" "" "NP_056030.1" "" "" "" "-207" "8237" "5022" "6845384" "7829766" "00000" "2012-09-13 13:11:20" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00789" "CANPMR" "ataxia, cerebellar, nonprogressive, with mental retardation (CANPMR)" "AD" "614756" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CAMTA1" "00139" "CAMTA1" "00789" ## Individuals ## Do not remove or alter this header ## ## Count = 27 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00050388" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050487" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00226096" "" "" "" "1" "" "03208" "" "" "M" "" "" "" "0" "" "" "" "" "00226097" "" "" "" "1" "" "03208" "" "" "F" "no" "" "" "0" "" "" "" "" "00226098" "" "" "" "1" "" "03208" "" "" "M" "no" "" "" "0" "" "" "" "" "00226099" "" "" "" "1" "" "03208" "" "" "F" "no" "" "" "0" "" "" "" "" "00269422" "" "" "" "1" "" "03208" "{PMID:Shinawi 2014:24738973}, {DOI:Shinawi 2014:10.1111/cge.12407}" "2-generation family, 1 affected and carrier mother" "M" "" "United States" "" "0" "" "" "white" "Family1" "00269423" "" "" "" "1" "" "03208" "{PMID:Shinawi 2014:24738973}, {DOI:Shinawi 2014:10.1111/cge.12407}" "2-generation family, 1 affected" "M" "?" "United States" "" "0" "" "" "white" "Family2" "00269424" "" "" "" "9" "" "03208" "{PMID:Thevenon 2012:22693284}, {DOI:Thevenon 2012:10.1136/jmedgenet-2012-100856}" "3-generation family, 9 affected (5F, 4M)" "F" "?" "France" "" "0" "" "" "" "Fam1PatIII6" "00269425" "" "" "" "5" "" "03208" "{PMID:Thevenon 2012:22693284}, {DOI:Thevenon 2012:10.1136/jmedgenet-2012-100856}" "3-generation family, 5 affected (2F, 3M)" "F" "" "France" "" "0" "" "" "" "Fam2PatI1" "00269430" "" "" "" "1" "" "03208" "{PMID:Thevenon 2012:22693284}, {DOI:Thevenon 2012:10.1136/jmedgenet-2012-100856}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "France" "" "0" "" "" "" "Fam3Pat" "00269479" "" "" "00269424" "1" "" "00006" "{PMID:Thevenon 2012:22693284}, {DOI:Thevenon 2012:10.1136/jmedgenet-2012-100856}" "" "F" "" "France" "" "0" "" "" "" "Fam1PatIII7" "00269480" "" "" "00269424" "1" "" "00006" "{PMID:Thevenon 2012:22693284}, {DOI:Thevenon 2012:10.1136/jmedgenet-2012-100856}" "" "M" "" "France" "" "0" "" "" "" "Fam1PatIII8" "00269481" "" "" "00269424" "1" "" "00006" "{PMID:Thevenon 2012:22693284}, {DOI:Thevenon 2012:10.1136/jmedgenet-2012-100856}" "" "F" "" "France" "" "0" "" "" "" "Fam1PatII6" "00269482" "" "" "00269424" "1" "" "00006" "{PMID:Thevenon 2012:22693284}, {DOI:Thevenon 2012:10.1136/jmedgenet-2012-100856}" "" "F" "" "France" "" "0" "" "" "" "Fam1PatII4" "00269483" "" "" "00269424" "1" "" "00006" "{PMID:Thevenon 2012:22693284}, {DOI:Thevenon 2012:10.1136/jmedgenet-2012-100856}" "" "M" "" "France" "" "0" "" "" "" "Fam1PatIII3" "00269484" "" "" "00269424" "1" "" "00006" "{PMID:Thevenon 2012:22693284}, {DOI:Thevenon 2012:10.1136/jmedgenet-2012-100856}" "" "M" "" "France" "" "0" "" "" "" "Fam1PatIII4" "00269485" "" "" "00269425" "1" "" "00006" "{PMID:Thevenon 2012:22693284}, {DOI:Thevenon 2012:10.1136/jmedgenet-2012-100856}" "" "M" "" "France" "" "0" "" "" "" "Fam2PatII1" "00269486" "" "" "00269425" "1" "" "00006" "{PMID:Thevenon 2012:22693284}, {DOI:Thevenon 2012:10.1136/jmedgenet-2012-100856}" "" "F" "" "France" "" "0" "" "" "" "Fam2PatII2" "00269494" "" "" "" "1" "" "00006" "{PMID:Mikhail 2011:22031302}, {DOI:Mikhail 2011:10.1002/ajmg.a.34177}" "" "M" "" "" "" "0" "" "" "" "Pat3" "00334922" "" "" "" "2" "" "03286" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "family, 2 affected (F, M)" "F" "no" "Italy" "" "0" "" "" "" "PME17" "00334925" "" "" "00334922" "1" "" "03286" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "relative of PME17" "M" "no" "Italy" "" "0" "" "" "" "PME18" "00377052" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "129512" "00377053" "" "" "" "1" "" "01164" "" "" "F" "?" "Turkey" "" "0" "" "" "" "148611" "00427990" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A070" "00455867" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "M" "" "" "" "0" "" "" "" "Pat107" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 26 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00050388" "00198" "00050487" "00198" "00226096" "00789" "00226097" "00789" "00226099" "00789" "00269422" "05356" "00269423" "05356" "00269424" "05356" "00269425" "05356" "00269430" "05356" "00269479" "05356" "00269480" "05356" "00269481" "05356" "00269482" "05356" "00269483" "05356" "00269484" "05356" "00269485" "05356" "00269486" "05356" "00269494" "00198" "00334922" "05356" "00334925" "05356" "00377052" "00789" "00377053" "00789" "00427990" "00198" "00455867" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00789, 01157, 05356 ## Count = 23 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037000" "00198" "00050388" "00006" "Isolated (sporadic)" "" "dry skin, hypermetropia, esotropia, abnormality of the 5th finger, abnormality of the nervous system, abnormality of the oral cavity, cognitive impairment, ataxia" "" "" "" "" "" "" "" "" "" "" "" "0000037099" "00198" "00050487" "00006" "Isolated (sporadic)" "" "global developmental delay, microcephaly, seizures" "" "" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "" "" "0000207256" "05356" "00269424" "00006" "Familial, autosomal dominant" "06y" "term gestation 38m; no intrauterine growth retardation; no neonatal hypotonia; sit-9m; walk-18m; first words 48m; normal growth; dysmorphism; ataxic gait; mild dysmetry; instability; dysarthria/abnormal pronunciation; scale assessment and rating ataxia 9/56; normal nerve sensitivity; normal tendon reflexes; no pyramidal symptoms; no tremor; no nystagmus; no Romberg sign; no convulsions; strabismus; IQ 58, verbal intellectual quotient 52, performance intellectual quotient 57; special needs for scholarship/job; stereotypies, aggressive behaviour" "" "" "" "" "" "" "" "" "CANPMR" "ataxia" "" "0000207301" "05356" "00269430" "00006" "Isolated (sporadic)" "04y" "intrauterine growth retardation; neonatal hypotonia; sit-9m; walk-21m; delayed speech; normal growth; dysmorphism; ataxic gait; dysmetry; instability; dysarthria/abnormal pronunciation; scale assessment and rating ataxia 9/56; normal nerve sensitivity; normal tendon reflexes; no pyramidal symptoms; no tremor; no nystagmus; no Romberg sign; no convulsions; no strabismus; dissociation between verbal and non-verbal skills; special needs for scholarship/job; no behavioural troubles; MRI brain normal" "" "" "" "" "" "" "" "" "CANPMR" "ataxia" "" "0000207302" "05356" "00269425" "00006" "Familial, autosomal dominant" "42y" "delayed walking; first words; normal growth; dysmorphism; ataxic gait; mild dysmetry; instability; no dysarthria/abnormal pronunciation; scale assessment and rating ataxia 6/56; normal nerve sensitivity; normal tendon reflexes; no pyramidal symptoms; no tremor; no nystagmus; no Romberg sign; no convulsions; no strabismus; IQ 54, verbal intellectual quotient 52, performance intellectual quotient 60; not working; no behavioural troubles;" "" "" "" "" "" "" "" "" "CANPMR" "ataxia" "" "0000207305" "05356" "00269479" "00006" "Familial, autosomal dominant" "4y" "term gestation 40m; no intrauterine growth retardation; no neonatal hypotonia; sit-11m; walk-24m; no speech; normal growth; dysmorphism; no ataxic gait; no dysmetry; instability; scale assessment and rating ataxia 9/56; normal nerve sensitivity; normal tendon reflexes; no pyramidal symptoms; no tremor; no nystagmus; no Romberg sign; no convulsions; no strabismus; IQ 67, verbal intellectual quotient 78, performance intellectual quotient 61; special needs for scholarship/job; no behavioural troubles;" "" "" "" "" "" "" "" "" "" "" "" "0000207306" "05356" "00269480" "00006" "Familial, autosomal dominant" "2y" "term gestation 39m; no intrauterine growth retardation; neonatal hypotonia; sit-10m; walk-20m (with assistance); no speech; normal growth; dysmorphism; ataxic gait; dysmetry; instability; scale assessment and rating ataxia 9/56; normal nerve sensitivity; normal tendon reflexes; no pyramidal symptoms; no tremor; no nystagmus; no Romberg sign; 2 febrile crisis; no strabismus; no behavioural troubles;" "" "" "" "" "" "" "" "" "" "" "" "0000207307" "05356" "00269481" "00006" "Familial, autosomal dominant" "41y" "first words; normal growth; facial dysmorphism; no ataxic gait; no dysmetry; mild instability; dysarthria/abnormal pronunciation; scale assessment and rating ataxia 6/56; normal nerve sensitivity; normal tendon reflexes; no pyramidal symptoms; no tremor; no nystagmus; no Romberg sign; no convulsions; no strabismus; IQ 58, verbal intellectual quotient 59, performance intellectual quotient 58; job reserved for disabled; no behavioural troubles; MRI brain pathological" "" "" "" "" "" "" "" "" "" "" "" "0000207308" "05356" "00269482" "00006" "Familial, autosomal dominant" "38y" "no intrauterine growth retardation; first words; normal growth; dysmorphism; no ataxic gait; no dysmetry; mild instability; dysarthria/abnormal pronunciation; scale assessment and rating ataxia 6/56; normal nerve sensitivity; normal tendon reflexes; no pyramidal symptoms; no tremor; no nystagmus; no Romberg sign; no convulsions; no strabismus; IQ 65, verbal intellectual quotient 66, performance intellectual quotient 68; not working; no behavioural troubles; MRI brain pathological" "" "" "" "" "" "" "" "" "" "" "" "0000207309" "05356" "00269483" "00006" "Familial, autosomal dominant" "18y" "term gestation at term; no intrauterine growth retardation; no neonatal hypotonia; sit-10m; walk-18m; delayed speech; normal growth; dysmorphism; ataxic gait; mild dysmetry; mild instability; no dysarthria/abnormal pronunciation; scale assessment and rating ataxia 8/56; normal nerve sensitivity; normal tendon reflexes; no pyramidal symptoms; no tremor; no nystagmus; no Romberg sign; no convulsions; no strabismus; IQ 51 ; job reserved for disabled; solitary behaviour;" "" "" "" "" "" "" "" "" "" "" "" "0000207310" "05356" "00269484" "00006" "Familial, autosomal dominant" "14y" "term gestation 36+5m; no intrauterine growth retardation; no neonatal hypotonia; walk-22m; delayed speech; normal growth; dysmorphism; no ataxic gait; no dysmetry; mild instability; dysarthria/abnormal pronunciation; scale assessment and rating ataxia 4/56; normal nerve sensitivity; normal tendon reflexes; no pyramidal symptoms; no tremor; no nystagmus; no Romberg sign; no convulsions; no strabismus; IQ 61, verbal intellectual quotient 76, performance intellectual quotient 65; special needs for scholarship/job; no behavioural troubles; MRI brain abnormal" "" "" "" "" "" "" "" "" "" "" "" "0000207311" "05356" "00269485" "00006" "Familial, autosomal dominant" "16y" "term gestation 38m; no intrauterine growth retardation; no neonatal hypotonia; walk-24m; first words36m; macrocephaly; dysmorphism; ataxic gait; mild dysmetry; instability; no dysarthria/abnormal pronunciation; scale assessment and rating ataxia 9/56; normal nerve sensitivity; polykinetic tendon reflexes; pyramidal symptoms; no tremor; no nystagmus; no Romberg sign; no convulsions; no strabismus; IQ 40, verbal intellectual quotient 50, performance intellectual quotient 50; special needs for scholarship/job; autism spectrum disorder, aggressiveness;" "" "" "" "" "" "" "" "" "" "" "" "0000207312" "05356" "00269486" "00006" "Familial, autosomal dominant" "12y" "term gestation 38m; no intrauterine growth retardation; neonatal hypotonia; walk-18m; first words36m; normal growth; dysmorphism; no ataxic gait; no dysmetry; mild instability; no dysarthria/abnormal pronunciation; scale assessment and rating ataxia 8/56; normal nerve sensitivity; normal tendon reflexes; no pyramidal symptoms; no tremor; no nystagmus; no Romberg sign; no convulsions; no strabismus; IQ 53, verbal intellectual quotient 55, performance intellectual quotient 56; special needs for scholarship/job; no behavioural troubles;" "" "" "" "" "" "" "" "" "" "" "" "0000207321" "05356" "00269422" "00006" "Familial, autosomal dominant" "12y" "see paper; ..., DD, poor oral motor skills, short stature" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000207322" "05356" "00269423" "00006" "Unknown" "12y" "see paper; ..., epilepsy,DD/ID, ADHD, aggressive behavioral tendencies" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000207325" "00198" "00269494" "00006" "Unknown" "14y" "see paper; ..., developmental delay, intellectual disability, attention deficit hyperactivity disorder, developmental pervasive disorder, no seizures, velopharyngeal insufficiency, speech problems, abnormal ataxic gait, no dysmorphic features" "" "" "" "" "" "" "" "" "" "" "" "0000257413" "05356" "00334922" "00006" "Familial, autosomal dominant" "" "Father-daughter pair. Daughter age of onset 18 years with myolonus; no other seizure types. Father with adult onset rare TCS and mild myoclonus. Both on a backround of normal development, with no cognitive impairment or ataxia." "" "" "" "" "" "" "" "" "" "Unverricht-Lundborg disease like" "" "0000257414" "05356" "00334925" "00006" "Familial, autosomal dominant" "" "see father" "" "" "" "" "" "" "" "" "" "Unverricht-Lundborg disease like" "" "0000272242" "00789" "00377052" "01164" "Unknown" "" "Hypotonia, Global developmental delay, Gait disturbance, Myopathic facies, Waddling gait, Steatorrhea, Fat malabsorption, Abnormal muscle tone, Decreased facial expression, Neurodevelopmental delay" "" "" "" "" "" "" "" "" "6y" "" "" "0000272243" "00789" "00377053" "01164" "Unknown" "14y" "Abnormality of the forehead, High forehead, Delayed speech and language development, Intellectual disability,Motor delay, Language impairment, Muscular dystrophy, Abnormality of higher mental function, Abnormal skeletal muscle morphology, Neurodevelopmental delay, Neurodevelopmental abnormality" "" "" "" "" "" "" "" "" "" "" "" "0000318936" "00198" "00427990" "00006" "Familial, autosomal dominant" "6y" "" "" "" "" "" "" "" "" "" "" "" "" "0000344400" "00198" "00455867" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CECBA" "neurogenetic diseases" "" ## Screenings ## Do not remove or alter this header ## ## Count = 27 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000050333" "00050388" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050432" "00050487" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000227165" "00226096" "1" "03208" "03208" "2019-02-25 14:28:13" "" "" "PCR" "DNA" "" "" "0000227166" "00226097" "1" "03208" "03208" "2019-02-25 14:34:02" "" "" "PCR" "DNA" "" "" "0000227167" "00226098" "1" "03208" "03208" "2019-02-25 14:35:54" "" "" "PCR" "DNA" "" "" "0000227168" "00226099" "1" "03208" "03208" "2019-02-25 14:37:53" "" "" "PCR" "DNA" "" "" "0000270565" "00269422" "1" "03208" "03208" "2019-11-26 09:37:13" "" "" "arrayCNV" "DNA" "" "" "0000270566" "00269423" "1" "03208" "03208" "2019-11-26 09:42:30" "" "" "arrayCNV" "DNA" "" "" "0000270567" "00269424" "1" "03208" "03208" "2019-11-26 09:48:16" "00006" "2019-11-28 17:03:13" "arrayCNV;RT-PCR;SEQ" "DNA;RNA" "" "" "0000270568" "00269425" "1" "03208" "03208" "2019-11-26 09:55:51" "" "" "arrayCNV" "DNA" "" "" "0000270573" "00269430" "1" "03208" "03208" "2019-11-26 10:41:51" "" "" "arrayCNV" "DNA" "" "" "0000270633" "00269479" "1" "00006" "00006" "2019-11-28 17:35:03" "" "" "arrayCNV" "DNA" "" "" "0000270634" "00269480" "1" "00006" "00006" "2019-11-28 17:35:03" "" "" "arrayCNV" "DNA" "" "" "0000270635" "00269481" "1" "00006" "00006" "2019-11-28 17:35:03" "" "" "arrayCNV" "DNA" "" "" "0000270636" "00269482" "1" "00006" "00006" "2019-11-28 17:35:03" "" "" "arrayCNV" "DNA" "" "" "0000270637" "00269483" "1" "00006" "00006" "2019-11-28 17:35:03" "" "" "arrayCNV" "DNA" "" "" "0000270638" "00269484" "1" "00006" "00006" "2019-11-28 17:35:03" "" "" "arrayCNV" "DNA" "" "" "0000270639" "00269485" "1" "00006" "00006" "2019-11-28 17:35:03" "" "" "arrayCNV" "DNA" "" "" "0000270640" "00269486" "1" "00006" "00006" "2019-11-28 17:35:03" "" "" "arrayCNV" "DNA" "" "" "0000270648" "00269494" "1" "00006" "00006" "2019-11-28 19:57:10" "00006" "2019-11-29 10:19:47" "arrayCGH;FISH" "DNA" "" "" "0000336152" "00334922" "1" "03286" "03286" "2021-03-02 13:29:55" "00006" "2021-04-14 09:22:08" "SEQ;SEQ-NG" "DNA" "WES parent-child pair" "" "0000336154" "00334925" "1" "03286" "03286" "2021-03-02 13:32:00" "00006" "2021-04-14 09:22:08" "SEQ;SEQ-NG" "DNA" "WES parent-child pair" "" "0000378257" "00377052" "1" "01164" "01164" "2021-06-29 16:35:19" "" "" "SEQ-NG-I" "DNA" "" "" "0000378258" "00377053" "1" "01164" "01164" "2021-06-29 18:11:12" "" "" "SEQ-NG-I" "DNA" "" "" "0000429403" "00427990" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood" "singleton WES" "0000457483" "00455867" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000050333" "CAMTA1" "0000050432" "CAMTA1" "0000227165" "CAMTA1" "0000270633" "CAMTA1" "0000270634" "CAMTA1" "0000270635" "CAMTA1" "0000270636" "CAMTA1" "0000270637" "CAMTA1" "0000270638" "CAMTA1" "0000270639" "CAMTA1" "0000270640" "CAMTA1" "0000270648" "CAMTA1" "0000378257" "CAMTA1" "0000378258" "CAMTA1" ## 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}}" "0000010282" "3" "50" "1" "7103437" "7103438" "ins" "0" "00037" "CAMTA1_000004" "g.7103437_7103438insAG" "" "" "" "" "" "Germline" "" "" "" "" "" "g.7043377_7043378insAG" "" "VUS" "" "0000011356" "3" "50" "1" "7022812" "7022812" "subst" "0" "00037" "CAMTA1_000003" "g.7022812C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.6962752C>G" "" "VUS" "" "0000011357" "3" "50" "1" "7595125" "7595125" "subst" "0" "00037" "CAMTA1_000001" "g.7595125G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.7535065G>A" "" "VUS" "" "0000011358" "3" "50" "1" "7595233" "7595233" "subst" "0" "00037" "CAMTA1_000002" "g.7595233G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.7535173G>A" "" "VUS" "" "0000079313" "0" "90" "1" "7538305" "7760463" "del" "0" "00006" "CAMTA1_000006" "g.7538305_7760463del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.7478245_7700403del" "" "pathogenic" "" "0000079412" "0" "90" "1" "7797375" "7797375" "subst" "0" "00006" "CAMTA1_000005" "g.7797375C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.7737315C>T" "" "pathogenic" "" "0000248977" "0" "10" "1" "7737799" "7737799" "subst" "0.547215" "02325" "CAMTA1_000016" "g.7737799A>G" "" "" "" "CAMTA1(NM_015215.4):c.2914+6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7677739A>G" "" "benign" "" "0000266473" "0" "30" "1" "7796991" "7796991" "subst" "0" "02325" "CAMTA1_000018" "g.7796991T>G" "" "" "" "CAMTA1(NM_015215.4):c.3264T>G (p.R1088=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7736931T>G" "" "likely benign" "" "0000266474" "0" "10" "1" "7797503" "7797503" "subst" "0.120666" "02325" "CAMTA1_000020" "g.7797503C>G" "" "" "" "CAMTA1(NM_015215.4):c.3531C>G (p.N1177K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7737443C>G" "" "benign" "" "0000266475" "0" "30" "1" "7798492" "7798492" "subst" "5.29743E-5" "02325" "CAMTA1_000024" "g.7798492C>A" "" "" "" "CAMTA1(NM_015215.4):c.4132C>A (p.R1378S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7738432C>A" "" "likely benign" "" "0000266476" "0" "10" "1" "7811014" "7811014" "subst" "0" "02325" "CAMTA1_000026" "g.7811014G>A" "" "" "" "CAMTA1(NM_015215.4):c.4690-245G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7750954G>A" "" "benign" "" "0000266477" "0" "50" "1" "7723427" "7723427" "subst" "3.82572E-5" "02325" "CAMTA1_000011" "g.7723427G>A" "" "" "" "CAMTA1(NM_015215.4):c.820G>A (p.(Val274Met), p.V274M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7663367G>A" "" "VUS" "" "0000272585" "0" "30" "1" "7724797" "7724797" "subst" "0.00038837" "01943" "CAMTA1_000015" "g.7724797C>T" "" "" "" "CAMTA1(NM_015215.3):c.2190C>T (p.A730=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7664737C>T" "" "likely benign" "" "0000272586" "0" "50" "1" "7792636" "7792636" "subst" "4.6117E-5" "01943" "CAMTA1_000017" "g.7792636G>A" "" "" "" "CAMTA1(NM_015215.3):c.3043G>A (p.G1015R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7732576G>A" "" "VUS" "" "0000272587" "0" "30" "1" "7797443" "7797443" "subst" "0.00065806" "01943" "CAMTA1_000019" "g.7797443G>A" "" "" "" "CAMTA1(NM_015215.3):c.3471G>A (p.V1157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7737383G>A" "" "likely benign" "" "0000272588" "0" "30" "1" "7798083" "7798083" "subst" "6.90423E-5" "01943" "CAMTA1_000022" "g.7798083G>A" "" "" "" "CAMTA1(NM_015215.3):c.3723G>A (p.P1241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7738023G>A" "" "likely benign" "" "0000272589" "0" "30" "1" "7721907" "7721907" "subst" "1.65759E-5" "01943" "CAMTA1_000009" "g.7721907C>T" "" "" "" "CAMTA1(NM_015215.3):c.786C>T (p.C262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7661847C>T" "" "likely benign" "" "0000272590" "0" "30" "1" "7723408" "7723408" "del" "0" "01943" "CAMTA1_000010" "g.7723408del" "" "" "" "CAMTA1(NM_015215.3):c.806-5delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7663348del" "" "likely benign" "" "0000320505" "0" "30" "1" "6880244" "6880244" "subst" "0.000172418" "01804" "CAMTA1_000007" "g.6880244G>A" "" "" "" "CAMTA1(NM_001195563.1):c.49G>A (p.(Val17Ile)), CAMTA1(NM_015215.4):c.49G>A (p.V17I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6820184G>A" "" "likely benign" "" "0000320506" "0" "50" "1" "6931823" "6931823" "subst" "0" "01804" "CAMTA1_000008" "g.6931823T>G" "" "" "" "CAMTA1(NM_001195563.1):c.241T>G (p.(Ter81GlyextTer13))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6871763T>G" "" "VUS" "" "0000320507" "0" "50" "1" "7723593" "7723593" "subst" "0.00732608" "01804" "CAMTA1_000012" "g.7723593A>G" "" "" "" "CAMTA1(NM_015215.2):c.986A>G (p.(Lys329Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7663533A>G" "" "VUS" "" "0000320508" "0" "50" "1" "7723761" "7723761" "subst" "1.62754E-5" "01804" "CAMTA1_000013" "g.7723761C>T" "" "" "" "CAMTA1(NM_015215.2):c.1154C>T (p.(Ala385Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7663701C>T" "" "VUS" "" "0000320510" "0" "50" "1" "7798033" "7798033" "subst" "6.14915E-5" "01804" "CAMTA1_000021" "g.7798033C>T" "" "" "" "CAMTA1(NM_015215.2):c.3673C>T (p.(Arg1225Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7737973C>T" "" "VUS" "" "0000320511" "0" "50" "1" "7798213" "7798213" "subst" "8.14113E-5" "01804" "CAMTA1_000023" "g.7798213G>A" "" "" "" "CAMTA1(NM_015215.2):c.3853G>A (p.(Glu1285Lys)), CAMTA1(NM_015215.3):c.3853G>A (p.E1285K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7738153G>A" "" "VUS" "" "0000344295" "0" "90" "1" "7700525" "7700525" "subst" "0" "02327" "CAMTA1_000028" "g.7700525C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7640465C>A" "" "pathogenic" "" "0000344781" "0" "50" "1" "7723649" "7723649" "subst" "0" "02327" "CAMTA1_000029" "g.7723649C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7663589C>G" "" "VUS" "" "0000345601" "0" "50" "1" "7792534" "7792534" "subst" "0" "02327" "CAMTA1_000030" "g.7792534G>A" "" "" "" "CAMTA1(NM_015215.4):c.2941G>A (p.(Glu981Lys), p.E981K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7732474G>A" "" "VUS" "" "0000345726" "0" "70" "1" "7309678" "7309678" "subst" "0" "02327" "CAMTA1_000027" "g.7309678G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7249618G>T" "" "likely pathogenic" "" "0000347529" "0" "30" "1" "7723593" "7723593" "subst" "0.00732608" "02327" "CAMTA1_000012" "g.7723593A>G" "" "" "" "CAMTA1(NM_015215.2):c.986A>G (p.(Lys329Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7663533A>G" "" "likely benign" "" "0000461179" "0" "90" "1" "7309678" "7309678" "subst" "0" "03208" "CAMTA1_000027" "g.7309678G>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.7249618G>T" "" "pathogenic" "" "0000461180" "0" "90" "1" "7700525" "7700525" "subst" "0" "03208" "CAMTA1_000028" "g.7700525C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.7640465C>A" "" "pathogenic" "" "0000461181" "0" "70" "1" "7309652" "7309652" "subst" "0" "03208" "CAMTA1_000032" "g.7309652A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.7249592A>G" "" "likely pathogenic" "" "0000461182" "0" "90" "1" "7309627" "7309628" "del" "0" "03208" "CAMTA1_000031" "g.7309627_7309628del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.7249567_7249568del" "" "pathogenic" "" "0000508272" "0" "30" "1" "6880304" "6880304" "subst" "2.05185E-5" "01804" "CAMTA1_000033" "g.6880304A>G" "" "" "" "CAMTA1(NM_001195563.1):c.109A>G (p.(Ile37Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6820244A>G" "" "likely benign" "" "0000508284" "0" "50" "1" "6931825" "6931825" "subst" "2.32974E-5" "01943" "CAMTA1_000034" "g.6931825A>T" "" "" "" "CAMTA1(NM_001195563.1):c.243A>T (p.*81Cext*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6871765A>T" "" "VUS" "" "0000508290" "0" "70" "1" "7309627" "7309628" "del" "0" "02325" "CAMTA1_000031" "g.7309627_7309628del" "" "" "" "CAMTA1(NM_015215.4):c.379_380delAG (p.R127Efs*152)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7249567_7249568del" "" "likely pathogenic" "" "0000508291" "0" "90" "1" "7309652" "7309652" "subst" "0" "02327" "CAMTA1_000032" "g.7309652A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7249592A>G" "" "pathogenic" "" "0000508357" "0" "50" "1" "7527946" "7527946" "subst" "0" "02327" "CAMTA1_000035" "g.7527946C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7467886C>G" "" "VUS" "" "0000508365" "0" "30" "1" "7700450" "7700450" "subst" "0.000207631" "01943" "CAMTA1_000036" "g.7700450C>T" "" "" "" "CAMTA1(NM_015215.3):c.511-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7640390C>T" "" "likely benign" "" "0000508368" "0" "30" "1" "7723546" "7723546" "subst" "0.00091753" "01943" "CAMTA1_000038" "g.7723546C>T" "" "" "" "CAMTA1(NM_015215.3):c.939C>T (p.H313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7663486C>T" "" "likely benign" "" "0000508369" "0" "30" "1" "7723699" "7723699" "subst" "8.53097E-5" "01943" "CAMTA1_000039" "g.7723699C>T" "" "" "" "CAMTA1(NM_015215.3):c.1092C>T (p.S364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7663639C>T" "" "likely benign" "" "0000508372" "0" "10" "1" "7723852" "7723852" "subst" "0.00146218" "01943" "CAMTA1_000042" "g.7723852C>T" "" "" "" "CAMTA1(NM_015215.3):c.1245C>T (p.T415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7663792C>T" "" "benign" "" "0000508373" "0" "30" "1" "7723909" "7723909" "subst" "0" "01943" "CAMTA1_000043" "g.7723909C>T" "" "" "" "CAMTA1(NM_015215.3):c.1302C>T (p.A434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7663849C>T" "" "likely benign" "" "0000508374" "0" "30" "1" "7723921" "7723921" "subst" "0.000308785" "01943" "CAMTA1_000044" "g.7723921T>C" "" "" "" "CAMTA1(NM_015215.3):c.1314T>C (p.D438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7663861T>C" "" "likely benign" "" "0000508375" "0" "30" "1" "7724028" "7724028" "subst" "8.13451E-5" "01943" "CAMTA1_000045" "g.7724028G>A" "" "" "" "CAMTA1(NM_015215.3):c.1421G>A (p.R474Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7663968G>A" "" "likely benign" "" "0000508376" "0" "50" "1" "7724562" "7724562" "subst" "0.00128896" "01943" "CAMTA1_000046" "g.7724562C>T" "" "" "" "CAMTA1(NM_015215.3):c.1955C>T (p.S652L), CAMTA1(NM_015215.4):c.1955C>T (p.S652L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7664502C>T" "" "VUS" "" "0000508377" "0" "30" "1" "7724697" "7724697" "subst" "0.000989031" "01943" "CAMTA1_000014" "g.7724697C>T" "" "" "" "CAMTA1(NM_015215.3):c.2090C>T (p.A697V), CAMTA1(NM_015215.4):c.2090C>T (p.A697V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7664637C>T" "" "likely benign" "" "0000508378" "0" "30" "1" "7724697" "7724697" "subst" "0.000989031" "02325" "CAMTA1_000014" "g.7724697C>T" "" "" "" "CAMTA1(NM_015215.3):c.2090C>T (p.A697V), CAMTA1(NM_015215.4):c.2090C>T (p.A697V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7664637C>T" "" "likely benign" "" "0000508379" "0" "50" "1" "7724727" "7724727" "subst" "0.000625322" "01943" "CAMTA1_000047" "g.7724727C>G" "" "" "" "CAMTA1(NM_015215.3):c.2120C>G (p.S707C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7664667C>G" "" "VUS" "" "0000508381" "0" "90" "1" "7724964" "7724964" "del" "0" "02327" "CAMTA1_000049" "g.7724964del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7664904del" "" "pathogenic" "" "0000508382" "0" "50" "1" "7724979" "7724979" "subst" "0" "01943" "CAMTA1_000050" "g.7724979A>G" "" "" "" "CAMTA1(NM_015215.3):c.2372A>G (p.Y791C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7664919A>G" "" "VUS" "" "0000508383" "0" "50" "1" "7725065" "7725065" "subst" "0" "02325" "CAMTA1_000051" "g.7725065T>C" "" "" "" "CAMTA1(NM_015215.4):c.2458T>C (p.C820R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7665005T>C" "" "VUS" "" "0000508384" "0" "30" "1" "7725128" "7725128" "subst" "0" "01943" "CAMTA1_000052" "g.7725128A>G" "" "" "" "CAMTA1(NM_015215.3):c.2521A>G (p.S841G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7665068A>G" "" "likely benign" "" "0000508385" "0" "30" "1" "7725152" "7725152" "subst" "6.08879E-5" "01943" "CAMTA1_000053" "g.7725152G>A" "" "" "" "CAMTA1(NM_015215.3):c.2545G>A (p.A849T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7665092G>A" "" "likely benign" "" "0000508386" "0" "30" "1" "7731043" "7731043" "subst" "0" "01804" "CAMTA1_000054" "g.7731043A>T" "" "" "" "CAMTA1(NM_015215.2):c.2725A>T (p.(Ile909Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7670983A>T" "" "likely benign" "" "0000508387" "0" "10" "1" "7731048" "7731048" "subst" "0.00131203" "01943" "CAMTA1_000055" "g.7731048A>G" "" "" "" "CAMTA1(NM_015215.3):c.2730A>G (p.S910=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7670988A>G" "" "benign" "" "0000508389" "0" "50" "1" "7797369" "7797369" "subst" "0" "01943" "CAMTA1_000057" "g.7797369G>A" "" "" "" "CAMTA1(NM_015215.3):c.3397G>A (p.D1133N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7737309G>A" "" "VUS" "" "0000508390" "0" "50" "1" "7797373" "7797373" "subst" "4.47024E-5" "01943" "CAMTA1_000058" "g.7797373G>A" "" "" "" "CAMTA1(NM_015215.3):c.3401G>A (p.R1134H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7737313G>A" "" "VUS" "" "0000508391" "0" "30" "1" "7797392" "7797392" "subst" "0.000373689" "01943" "CAMTA1_000059" "g.7797392C>T" "" "" "" "CAMTA1(NM_015215.3):c.3420C>T (p.P1140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7737332C>T" "" "likely benign" "" "0000508392" "0" "30" "1" "7797570" "7797570" "subst" "0.000146605" "02325" "CAMTA1_000060" "g.7797570G>A" "" "" "" "CAMTA1(NM_015215.4):c.3598G>A (p.E1200K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7737510G>A" "" "likely benign" "" "0000508393" "0" "30" "1" "7797625" "7797625" "subst" "0.00835699" "01943" "CAMTA1_000061" "g.7797625A>C" "" "" "" "CAMTA1(NM_015215.2):c.3653A>C (p.(Asn1218Thr)), CAMTA1(NM_015215.3):c.3653A>C (p.N1218T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7737565A>C" "" "likely benign" "" "0000508395" "0" "10" "1" "7798367" "7798367" "subst" "0.00218307" "02325" "CAMTA1_000062" "g.7798367C>T" "" "" "" "CAMTA1(NM_015215.3):c.4007C>T (p.T1336I), CAMTA1(NM_015215.4):c.4007C>T (p.T1336I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7738307C>T" "" "benign" "" "0000508396" "0" "10" "1" "7798485" "7798485" "subst" "0.00743911" "01943" "CAMTA1_000063" "g.7798485G>A" "" "" "" "CAMTA1(NM_015215.3):c.4125G>A (p.G1375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7738425G>A" "" "benign" "" "0000508401" "0" "50" "1" "7811385" "7811385" "subst" "8.22064E-6" "01943" "CAMTA1_000067" "g.7811385A>G" "" "" "" "CAMTA1(NM_015215.3):c.4816A>G (p.S1606G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7751325A>G" "" "VUS" "" "0000604336" "21" "90" "1" "7511105" "7758798" "del" "0" "03208" "CAMTA1_000071" "g.(7309687_7511105)_(7758798_7792507)del" "" "{PMID:Shinawi 2014:24738973}, {DOI:Shinawi 2014:10.1111/cge.12407}" "" "chr1:7,511,105–7,758,798" "mother not available" "Germline" "" "" "0" "" "" "g.(7249627_7451045)_(7698738_7732447)del" "" "pathogenic (dominant)" "" "0000604337" "0" "90" "1" "7511105" "7759064" "del" "0" "03208" "CAMTA1_000072" "g.(7309687_7511105)_(7759064_7792507)del" "" "{PMID:Shinawi 2014:24738973}, {DOI:Shinawi 2014:10.1111/cge.12407}" "" "7,511,105–7,759,064del" "mother not available\r\nc.439-16785_2914+21271del" "Germline/De novo (untested)" "" "" "0" "" "" "g.(7249627_7451045)_(7699004_7732447)del" "" "pathogenic (dominant)" "" "0000604338" "1" "90" "1" "7119268" "7200395" "del" "0" "03208" "CAMTA1_000068" "g.(6885271_7119268)_(7200395_7309550)del" "" "{PMID:Thevenon 2012:22693284}, {DOI:Thevenon 2012:10.1136/jmedgenet-2012-100856}" "" "" "" "Germline" "yes" "" "0" "" "hg19 arrCGH 1p36.31p36.23 (7119268-7200395)x1" "g.(6825211_7059208)_(7140335_7249490)del" "" "pathogenic (dominant)" "" "0000604344" "0" "90" "1" "6882372" "7422115" "dup" "0" "03208" "CAMTA1_000069" "g.(6880311_6882372)_(7422115_7527889)dup" "" "{PMID:Thevenon 2012:22693284}, {DOI:Thevenon 2012:10.1136/jmedgenet-2012-100856}" "" "dup ex3-5" "539 kb duplication" "Germline/De novo (untested)" "" "" "0" "" "hg19 arrCGH 1p36.31p36.23 (6882372-7422115)x3" "g.(6820251_6822312)_(7362055_7467829)dup" "" "pathogenic (dominant)" "" "0000604345" "0" "70" "1" "6854451" "6903599" "del" "0" "03208" "CAMTA1_000070" "g.(6845636_6854451)_(6903599_7151363)del" "" "{PMID:Thevenon 2012:22693284}, {DOI:Thevenon 2012:10.1136/jmedgenet-2012-100856}" "" "del ex2-3" "49 kb deletion" "De novo" "" "" "0" "" "hg18 arrSNP 1p36.31 (6777038-6826186)x1 dn" "g.(6785576_6794391)_(6843539_7091303)del" "" "likely pathogenic (dominant)" "" "0000604417" "21" "90" "1" "7119268" "7200395" "del" "0" "00006" "CAMTA1_000068" "g.(6885271_7119268)_(7200395_7309550)del" "" "{PMID:Thevenon 2012:22693284}, {DOI:Thevenon 2012:10.1136/jmedgenet-2012-100856}" "" "del ex4" "81 kb deletion" "Germline" "yes" "" "0" "" "hg19 arrCGH 1p36.31p36.23 (7119268-7200395)x1" "g.(6825211_7059208)_(7140335_7249490)del" "" "pathogenic (dominant)" "" "0000604418" "21" "90" "1" "7119268" "7200395" "del" "0" "00006" "CAMTA1_000068" "g.(6885271_7119268)_(7200395_7309550)del" "" "{PMID:Thevenon 2012:22693284}, {DOI:Thevenon 2012:10.1136/jmedgenet-2012-100856}" "" "del ex4" "81 kb deletion" "Germline" "yes" "" "0" "" "hg19 arrCGH 1p36.31p36.23 (7119268-7200395)x1" "g.(6825211_7059208)_(7140335_7249490)del" "" "pathogenic (dominant)" "" "0000604419" "21" "90" "1" "7119268" "7200395" "del" "0" "00006" "CAMTA1_000068" "g.(6885271_7119268)_(7200395_7309550)del" "" "{PMID:Thevenon 2012:22693284}, {DOI:Thevenon 2012:10.1136/jmedgenet-2012-100856}" "" "del ex4" "81 kb deletion" "Germline" "yes" "" "0" "" "hg19 arrCGH 1p36.31p36.23 (7119268-7200395)x1" "g.(6825211_7059208)_(7140335_7249490)del" "" "pathogenic (dominant)" "" "0000604420" "21" "90" "1" "7119268" "7200395" "del" "0" "00006" "CAMTA1_000068" "g.(6885271_7119268)_(7200395_7309550)del" "" "{PMID:Thevenon 2012:22693284}, {DOI:Thevenon 2012:10.1136/jmedgenet-2012-100856}" "" "del ex4" "81 kb deletion" "Germline" "yes" "" "0" "" "hg19 arrCGH 1p36.31p36.23 (7119268-7200395)x1" "g.(6825211_7059208)_(7140335_7249490)del" "" "pathogenic (dominant)" "" "0000604421" "21" "90" "1" "7119268" "7200395" "del" "0" "00006" "CAMTA1_000068" "g.(6885271_7119268)_(7200395_7309550)del" "" "{PMID:Thevenon 2012:22693284}, {DOI:Thevenon 2012:10.1136/jmedgenet-2012-100856}" "" "del ex4" "81 kb deletion" "Germline" "yes" "" "0" "" "hg19 arrCGH 1p36.31p36.23 (7119268-7200395)x1" "g.(6825211_7059208)_(7140335_7249490)del" "" "pathogenic (dominant)" "" "0000604422" "21" "90" "1" "7119268" "7200395" "del" "0" "00006" "CAMTA1_000068" "g.(6885271_7119268)_(7200395_7309550)del" "" "{PMID:Thevenon 2012:22693284}, {DOI:Thevenon 2012:10.1136/jmedgenet-2012-100856}" "" "del ex4" "81 kb deletion" "Germline" "yes" "" "0" "" "hg19 arrCGH 1p36.31p36.23 (7119268-7200395)x1" "g.(6825211_7059208)_(7140335_7249490)del" "" "pathogenic (dominant)" "" "0000604423" "21" "90" "1" "6882372" "7422115" "dup" "0" "00006" "CAMTA1_000069" "g.(6880311_6882372)_(7422115_7527889)dup" "" "{PMID:Thevenon 2012:22693284}, {DOI:Thevenon 2012:10.1136/jmedgenet-2012-100856}" "" "dup ex3-5" "539 kb duplication" "Germline" "yes" "" "0" "" "hg19 arrCGH 1p36.31p36.23 (6882372-7422115)x3" "g.(6820251_6822312)_(7362055_7467829)dup" "" "pathogenic (dominant)" "" "0000604424" "21" "90" "1" "6882372" "7422115" "dup" "0" "00006" "CAMTA1_000069" "g.(6880311_6882372)_(7422115_7527889)dup" "" "{PMID:Thevenon 2012:22693284}, {DOI:Thevenon 2012:10.1136/jmedgenet-2012-100856}" "" "dup ex3-5" "539 kb duplication" "Germline" "yes" "" "0" "" "hg19 arrCGH 1p36.31p36.23 (6882372-7422115)x3" "g.(6820251_6822312)_(7362055_7467829)dup" "" "pathogenic (dominant)" "" "0000604453" "0" "90" "1" "6594333" "6899375" "del" "0" "00006" "CAMTA1_000073" "g.(6495591_6594333)_(6899375_7151363)del" "" "{PMID:Mikhail 2011:22031302}, {DOI:Mikhail 2011:10.1002/ajmg.a.34177}" "" "hg19 6,594,333-6,899,375del" "305 kb deletion incl. PHF13, THAP3, and DNAJC11" "De novo" "" "" "0" "" "" "g.(6435531_6534273)_(6839315_7091303)del" "" "pathogenic (dominant)" "" "0000605948" "0" "30" "1" "7805981" "7805981" "subst" "2.0308E-5" "01943" "CAMTA1_000076" "g.7805981G>A" "" "" "" "CAMTA1(NM_015215.3):c.4447G>A (p.A1483T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7745921G>A" "" "likely benign" "" "0000605949" "0" "50" "1" "7811407" "7811407" "subst" "0" "02325" "CAMTA1_000078" "g.7811407G>A" "" "" "" "CAMTA1(NM_015215.4):c.4838G>A (p.R1613K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7751347G>A" "" "VUS" "" "0000620696" "0" "70" "1" "7725261" "7725261" "subst" "0" "01943" "CAMTA1_000074" "g.7725261T>A" "" "" "" "CAMTA1(NM_015215.3):c.2652+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7665201T>A" "" "likely pathogenic" "" "0000620697" "0" "30" "1" "7805929" "7805929" "subst" "6.50037E-5" "01943" "CAMTA1_000075" "g.7805929C>T" "" "" "" "CAMTA1(NM_015215.3):c.4395C>T (p.T1465=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7745869C>T" "" "likely benign" "" "0000620698" "0" "30" "1" "7806094" "7806094" "subst" "5.68643E-5" "01943" "CAMTA1_000077" "g.7806094A>G" "" "" "" "CAMTA1(NM_015215.3):c.4560A>G (p.E1520=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7746034A>G" "" "likely benign" "" "0000654105" "0" "50" "1" "7151384" "7151384" "subst" "0" "01943" "CAMTA1_000079" "g.7151384A>G" "" "" "" "CAMTA1(NM_015215.3):c.255A>G (p.I85M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7091324A>G" "" "VUS" "" "0000654107" "0" "30" "1" "7798367" "7798367" "subst" "0.00218307" "01943" "CAMTA1_000062" "g.7798367C>T" "" "" "" "CAMTA1(NM_015215.3):c.4007C>T (p.T1336I), CAMTA1(NM_015215.4):c.4007C>T (p.T1336I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7738307C>T" "" "likely benign" "" "0000654108" "0" "50" "1" "7804957" "7804957" "subst" "1.62448E-5" "01943" "CAMTA1_000080" "g.7804957G>C" "" "" "" "CAMTA1(NM_015215.3):c.4245G>C (p.E1415D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7744897G>C" "" "VUS" "" "0000675922" "0" "70" "1" "7309672" "7309672" "del" "0" "02329" "CAMTA1_000081" "g.7309672del" "" "" "" "CAMTA1(NM_015215.4):c.424delG (p.V142Sfs*39)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000675932" "0" "30" "1" "7805969" "7805969" "subst" "3.24958E-5" "01943" "CAMTA1_000082" "g.7805969G>A" "" "" "" "CAMTA1(NM_015215.3):c.4435G>A (p.V1479I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675933" "0" "70" "1" "7811343" "7811343" "subst" "0" "02327" "CAMTA1_000083" "g.7811343C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000675934" "0" "30" "1" "7826559" "7826559" "subst" "0.000213244" "01943" "CAMTA1_000084" "g.7826559C>T" "" "" "" "CAMTA1(NM_001349609.1):c.4681C>T (p.Q1561*), CAMTA1(NM_001349609.2):c.4681C>T (p.(Gln1561Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717682" "0" "30" "1" "6885275" "6885275" "subst" "0.000868365" "01943" "CAMTA1_000085" "g.6885275A>T" "" "" "" "CAMTA1(NM_015215.3):c.234+5A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717686" "0" "30" "1" "7309611" "7309611" "subst" "0.00032495" "01943" "CAMTA1_000086" "g.7309611G>A" "" "" "" "CAMTA1(NM_015215.3):c.363G>A (p.G121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717695" "0" "90" "1" "7723489" "7723489" "del" "0" "02327" "CAMTA1_000087" "g.7723489del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000717696" "0" "90" "1" "7723683" "7723684" "del" "0" "02327" "CAMTA1_000088" "g.7723683_7723684del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000717697" "0" "30" "1" "7724770" "7724770" "subst" "1.22477E-5" "01943" "CAMTA1_000089" "g.7724770G>A" "" "" "" "CAMTA1(NM_015215.3):c.2163G>A (p.P721=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717698" "0" "50" "1" "7724930" "7724930" "subst" "8.14797E-6" "02329" "CAMTA1_000048" "g.7724930G>A" "" "" "" "CAMTA1(NM_015215.4):c.2323G>A (p.D775N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717699" "0" "30" "1" "7725170" "7725170" "subst" "0.000363117" "01943" "CAMTA1_000090" "g.7725170G>A" "" "" "" "CAMTA1(NM_015215.3):c.2563G>A (p.A855T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717700" "0" "50" "1" "7805928" "7805928" "subst" "0" "02329" "CAMTA1_000065" "g.7805928C>G" "" "" "" "CAMTA1(NM_015215.4):c.4394C>G (p.T1465S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717701" "0" "50" "1" "7811409" "7811409" "subst" "1.23798E-5" "01943" "CAMTA1_000091" "g.7811409C>T" "" "" "" "CAMTA1(NM_015215.3):c.4840C>T (p.R1614W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717702" "0" "50" "1" "7815714" "7815714" "subst" "4.06058E-6" "01943" "CAMTA1_000092" "g.7815714A>G" "" "" "" "CAMTA1(NM_015215.3):c.4975A>G (p.R1659G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000735249" "1" "50" "1" "7805952" "7805952" "subst" "4.06207E-6" "03286" "CAMTA1_000093" "g.7805952G>C" "" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "" "ACMG PM2, BP1; The patients\' electroclinical phenotype has little overlap with previous reports for this gene, with no evidence of ataxia or cognitive impairment. However, the confirmed autosomal dominant inheritance is consistent with this ultra-rare, predicted damaging variant being causative. It is therefore with moderate confidence that we expand the CAMTA1 clinical spectrum to PME." "Germline" "yes" "" "0" "" "" "" "" "VUS" "ACMG" "0000735252" "1" "50" "1" "7805952" "7805952" "subst" "4.06207E-6" "03286" "CAMTA1_000093" "g.7805952G>C" "" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "" "ACMG PM2, BP1; The patients\' electroclinical phenotype has little overlap with previous reports for this gene, with no evidence of ataxia or cognitive impairment. However, the confirmed autosomal dominant inheritance is consistent with this ultra-rare, predicted damaging variant being causative. It is therefore with moderate confidence that we expand the CAMTA1 clinical spectrum to PME." "Germline" "yes" "" "0" "" "" "" "" "VUS" "ACMG" "0000790967" "0" "70" "1" "7723489" "7723490" "del" "0" "01164" "CAMTA1_000094" "g.7723489_7723490del" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline/De novo (untested)" "?" "" "0" "" "" "g.7663429_7663430del" "" "likely pathogenic (dominant)" "ACMG" "0000790968" "0" "70" "1" "7797448" "7797448" "subst" "0" "01164" "CAMTA1_000095" "g.7797448T>A" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline/De novo (untested)" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000799527" "0" "30" "1" "7723837" "7723837" "subst" "0.000783954" "01943" "CAMTA1_000096" "g.7723837C>T" "" "" "" "CAMTA1(NM_015215.3):c.1230C>T (p.Y410=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799528" "0" "30" "1" "7724209" "7724209" "subst" "0.000310196" "01943" "CAMTA1_000097" "g.7724209C>T" "" "" "" "CAMTA1(NM_015215.3):c.1602C>T (p.T534=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799529" "0" "30" "1" "7792504" "7792504" "subst" "0.000480871" "01943" "CAMTA1_000098" "g.7792504C>T" "" "" "" "CAMTA1(NM_015215.3):c.2915-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799530" "0" "30" "1" "7797627" "7797627" "subst" "0.000346688" "01943" "CAMTA1_000099" "g.7797627C>G" "" "" "" "CAMTA1(NM_015215.3):c.3655C>G (p.P1219A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000812940" "0" "90" "1" "7811336" "7811336" "del" "0" "03779" "CAMTA1_000100" "g.7811336del" "" "" "" "" "" "CLASSIFICATION record" "" "rs754008719" "0" "" "" "" "" "pathogenic" "" "0000848847" "0" "30" "1" "7723693" "7723693" "subst" "4.87409E-5" "01943" "CAMTA1_000102" "g.7723693C>T" "" "" "" "CAMTA1(NM_015215.3):c.1086C>T (p.I362=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848848" "0" "50" "1" "7725260" "7725260" "subst" "0" "02327" "CAMTA1_000104" "g.7725260G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848849" "0" "50" "1" "7798213" "7798213" "subst" "8.14113E-5" "01943" "CAMTA1_000023" "g.7798213G>A" "" "" "" "CAMTA1(NM_015215.2):c.3853G>A (p.(Glu1285Lys)), CAMTA1(NM_015215.3):c.3853G>A (p.E1285K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857606" "0" "50" "1" "7721917" "7721917" "subst" "0.000134907" "01943" "CAMTA1_000101" "g.7721917G>A" "" "" "" "CAMTA1(NM_015215.3):c.796G>A (p.G266S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857607" "0" "50" "1" "7725091" "7725091" "subst" "0" "01943" "CAMTA1_000103" "g.7725091G>A" "" "" "" "CAMTA1(NM_015215.3):c.2484G>A (p.Q828=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857608" "0" "70" "1" "7797428" "7797428" "del" "0" "01943" "CAMTA1_000105" "g.7797428del" "" "" "" "CAMTA1(NM_015215.3):c.3456delG (p.R1152Sfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000857609" "0" "30" "1" "7805932" "7805932" "subst" "0" "01943" "CAMTA1_000106" "g.7805932T>G" "" "" "" "CAMTA1(NM_015215.3):c.4398T>G (p.P1466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883563" "0" "30" "1" "6880244" "6880244" "subst" "0.000172418" "02325" "CAMTA1_000007" "g.6880244G>A" "" "" "" "CAMTA1(NM_001195563.1):c.49G>A (p.(Val17Ile)), CAMTA1(NM_015215.4):c.49G>A (p.V17I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883597" "0" "30" "1" "7724562" "7724562" "subst" "0.00128896" "02325" "CAMTA1_000046" "g.7724562C>T" "" "" "" "CAMTA1(NM_015215.3):c.1955C>T (p.S652L), CAMTA1(NM_015215.4):c.1955C>T (p.S652L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883598" "0" "30" "1" "7725155" "7725155" "subst" "3.33559E-5" "02325" "CAMTA1_000107" "g.7725155G>A" "" "" "" "CAMTA1(NM_015215.4):c.2548G>A (p.E850K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883599" "0" "30" "1" "7737667" "7737667" "subst" "0" "02327" "CAMTA1_000108" "g.7737667A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883600" "0" "50" "1" "7806105" "7806105" "subst" "0" "02327" "CAMTA1_000109" "g.7806105T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000908876" "0" "70" "1" "7527939" "7527939" "subst" "0" "00006" "CAMTA1_000110" "g.7527939G>A" "" "{PMID:Bournazos 2022:34906502}" "" "" "" "De novo" "" "" "0" "" "" "g.7467879G>A" "" "likely pathogenic (dominant)" "" "0000911133" "0" "50" "1" "7798108" "7798108" "subst" "0" "02327" "CAMTA1_000111" "g.7798108C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923242" "0" "70" "1" "7807839" "7807839" "dup" "0" "02325" "CAMTA1_000112" "g.7807839dup" "" "" "" "CAMTA1(NM_015215.4):c.4687dupC (p.Q1563Pfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000928215" "0" "70" "1" "7807827" "7807827" "del" "0" "02329" "CAMTA1_000114" "g.7807827del" "" "" "" "CAMTA1(NM_015215.4):c.4675delA (p.R1559Efs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000974089" "0" "30" "1" "6845589" "6845591" "del" "0" "01804" "CAMTA1_000115" "g.6845589_6845591del" "" "" "" "CAMTA1(NM_015215.4):c.-2_1del (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974092" "0" "30" "1" "7189979" "7189980" "ins" "0" "01804" "CAMTA1_000116" "g.7189979_7189980insG" "" "" "" "CAMTA1(NM_015215.4):c.302+38548_302+38549insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974109" "0" "50" "1" "7724336" "7724336" "subst" "0" "01804" "CAMTA1_000117" "g.7724336C>T" "" "" "" "CAMTA1(NM_015215.2):c.1729C>T (p.(Pro577Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974110" "0" "30" "1" "7725114" "7725114" "subst" "2.39588E-5" "01804" "CAMTA1_000118" "g.7725114C>T" "" "" "" "CAMTA1(NM_015215.4):c.2507C>T (p.(Ser836Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974111" "0" "30" "1" "7725209" "7725209" "subst" "3.90946E-5" "01804" "CAMTA1_000119" "g.7725209G>A" "" "" "" "CAMTA1(NM_015215.4):c.2602G>A (p.(Gly868Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974112" "0" "50" "1" "7792534" "7792534" "subst" "0" "01804" "CAMTA1_000030" "g.7792534G>A" "" "" "" "CAMTA1(NM_015215.4):c.2941G>A (p.(Glu981Lys), p.E981K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974113" "0" "50" "1" "7792624" "7792624" "subst" "8.23147E-6" "01804" "CAMTA1_000120" "g.7792624G>A" "" "" "" "CAMTA1(NM_015215.4):c.3031G>A (p.(Gly1011Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974114" "0" "50" "1" "7826544" "7826544" "subst" "0" "01804" "CAMTA1_000121" "g.7826544G>A" "" "" "" "CAMTA1(NM_015215.4):c.5015G>A (p.(Gly1672Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991406" "0" "30" "1" "7309567" "7309567" "subst" "3.65845E-5" "01804" "CAMTA1_000122" "g.7309567A>G" "" "" "" "CAMTA1(NM_015215.2):c.319A>G (p.(Met107Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991417" "0" "50" "1" "7700553" "7700553" "subst" "0" "01804" "CAMTA1_000123" "g.7700553G>C" "" "" "" "CAMTA1(NM_015215.2):c.604G>C (p.(Asp202His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991418" "0" "50" "1" "7723626" "7723626" "subst" "0" "01804" "CAMTA1_000124" "g.7723626G>A" "" "" "" "CAMTA1(NM_015215.2):c.1019G>A (p.(Ser340Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991419" "0" "50" "1" "7723901" "7723901" "subst" "4.87508E-5" "01804" "CAMTA1_000125" "g.7723901G>A" "" "" "" "CAMTA1(NM_015215.2):c.1294G>A (p.(Val432Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991420" "0" "30" "1" "7723934" "7723934" "subst" "4.87797E-5" "01804" "CAMTA1_000126" "g.7723934G>A" "" "" "" "CAMTA1(NM_015215.2):c.1327G>A (p.(Ala443Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991421" "0" "30" "1" "7724028" "7724028" "subst" "1.6269E-5" "01804" "CAMTA1_000127" "g.7724028G>C" "" "" "" "CAMTA1(NM_015215.2):c.1421G>C (p.(Arg474Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991422" "0" "30" "1" "7724394" "7724394" "subst" "4.88814E-5" "01804" "CAMTA1_000128" "g.7724394C>T" "" "" "" "CAMTA1(NM_015215.2):c.1787C>T (p.(Thr596Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991423" "0" "30" "1" "7724769" "7724769" "subst" "2.04187E-5" "01804" "CAMTA1_000129" "g.7724769C>T" "" "" "" "CAMTA1(NM_015215.2):c.2162C>T (p.(Pro721Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991424" "0" "30" "1" "7724817" "7724817" "subst" "1.22684E-5" "01804" "CAMTA1_000130" "g.7724817C>T" "" "" "" "CAMTA1(NM_015215.2):c.2210C>T (p.(Pro737Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991425" "0" "50" "1" "7737719" "7737719" "subst" "0" "02325" "CAMTA1_000131" "g.7737719C>T" "" "" "" "CAMTA1(NM_015215.4):c.2840C>T (p.S947L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991426" "0" "50" "1" "7792571" "7792571" "subst" "0" "01804" "CAMTA1_000132" "g.7792571T>A" "" "" "" "CAMTA1(NM_015215.2):c.2978T>A (p.(Met993Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991427" "0" "50" "1" "7797354" "7797354" "subst" "4.06832E-6" "01804" "CAMTA1_000133" "g.7797354G>A" "" "" "" "CAMTA1(NM_015215.2):c.3382G>A (p.(Val1128Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991428" "0" "70" "1" "7797550" "7797550" "subst" "0" "02329" "CAMTA1_000134" "g.7797550G>A" "" "" "" "CAMTA1(NM_015215.4):c.3578G>A (p.W1193*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000991429" "0" "50" "1" "7797550" "7797550" "subst" "0" "01804" "CAMTA1_000135" "g.7797550G>T" "" "" "" "CAMTA1(NM_015215.2):c.3578G>T (p.(Trp1193Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991430" "0" "30" "1" "7797625" "7797625" "subst" "0.00835699" "01804" "CAMTA1_000061" "g.7797625A>C" "" "" "" "CAMTA1(NM_015215.2):c.3653A>C (p.(Asn1218Thr)), CAMTA1(NM_015215.3):c.3653A>C (p.N1218T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991432" "0" "50" "1" "7811358" "7811358" "subst" "0" "01804" "CAMTA1_000136" "g.7811358G>T" "" "" "" "CAMTA1(NM_015215.2):c.4789G>T (p.(Ala1597Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991433" "0" "30" "1" "7811415" "7811415" "subst" "1.24425E-5" "01804" "CAMTA1_000137" "g.7811415G>T" "" "" "" "CAMTA1(NM_015215.2):c.4846G>T (p.(Ala1616Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991434" "0" "50" "1" "7812557" "7812557" "subst" "4.50628E-5" "01804" "CAMTA1_000138" "g.7812557G>A" "" "" "" "CAMTA1(NM_015215.2):c.4922G>A (p.(Arg1641Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001011986" "0" "90" "1" "7807773" "7807773" "subst" "0" "00006" "CAMTA1_000139" "g.7807773C>T" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Unknown" "" "" "0" "" "" "g.7747713C>T" "SUB7803796" "pathogenic" "" "0001013346" "0" "50" "1" "7798544" "7798544" "subst" "0" "02327" "CAMTA1_000140" "g.7798544T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032178" "0" "30" "1" "7683817" "7683817" "subst" "0" "01804" "CAMTA1_000142" "g.7683817C>T" "" "" "" "CAMTA1(NM_015215.4):c.511-16643C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032179" "0" "30" "1" "7723427" "7723427" "subst" "3.82572E-5" "01804" "CAMTA1_000011" "g.7723427G>A" "" "" "" "CAMTA1(NM_015215.4):c.820G>A (p.(Val274Met), p.V274M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032180" "0" "30" "1" "7724591" "7724591" "subst" "4.0814E-6" "01804" "CAMTA1_000143" "g.7724591G>A" "" "" "" "CAMTA1(NM_015215.4):c.1984G>A (p.(Val662Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032183" "0" "50" "1" "7792534" "7792534" "subst" "0" "02329" "CAMTA1_000030" "g.7792534G>A" "" "" "" "CAMTA1(NM_015215.4):c.2941G>A (p.(Glu981Lys), p.E981K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032184" "0" "30" "1" "7792615" "7792629" "dup" "0" "01804" "CAMTA1_000144" "g.7792615_7792629dup" "" "" "" "CAMTA1(NM_015215.4):c.3022_3036dup (p.(Ser1008_Ser1012dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032185" "0" "50" "1" "7796446" "7796446" "subst" "1.21893E-5" "02325" "CAMTA1_000145" "g.7796446C>T" "" "" "" "CAMTA1(NM_015215.4):c.3109C>T (p.R1037C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032188" "0" "30" "1" "7826559" "7826559" "subst" "0.000213244" "01804" "CAMTA1_000084" "g.7826559C>T" "" "" "" "CAMTA1(NM_001349609.1):c.4681C>T (p.Q1561*), CAMTA1(NM_001349609.2):c.4681C>T (p.(Gln1561Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045695" "0" "70" "1" "7700567" "7700567" "subst" "0" "02325" "CAMTA1_000146" "g.7700567G>A" "" "" "" "CAMTA1(NM_015215.4):c.618G>A (p.W206*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001049887" "0" "30" "1" "6845589" "6845591" "dup" "0" "01804" "CAMTA1_000147" "g.6845589_6845591dup" "" "" "" "CAMTA1(NM_015215.4):c.-2_1dup (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001049888" "0" "30" "1" "7723425" "7723425" "subst" "0" "01804" "CAMTA1_000148" "g.7723425G>A" "" "" "" "CAMTA1(NM_015215.4):c.818G>A (p.(Ser273Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001049889" "0" "30" "1" "7723796" "7723796" "subst" "4.88087E-5" "01804" "CAMTA1_000149" "g.7723796G>A" "" "" "" "CAMTA1(NM_015215.4):c.1189G>A (p.(Ala397Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001049890" "0" "30" "1" "7724105" "7724105" "subst" "6.90709E-5" "01804" "CAMTA1_000150" "g.7724105G>T" "" "" "" "CAMTA1(NM_015215.4):c.1498G>T (p.(Gly500Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001049891" "0" "30" "1" "7724265" "7724265" "subst" "1.65489E-5" "01804" "CAMTA1_000151" "g.7724265C>T" "" "" "" "CAMTA1(NM_015215.4):c.1658C>T (p.(Ala553Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001049892" "0" "50" "1" "7724565" "7724565" "subst" "4.07837E-6" "01804" "CAMTA1_000152" "g.7724565C>T" "" "" "" "CAMTA1(NM_015215.4):c.1958C>T (p.(Ser653Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049893" "0" "30" "1" "7725032" "7725032" "subst" "3.29679E-5" "01804" "CAMTA1_000153" "g.7725032G>A" "" "" "" "CAMTA1(NM_015215.4):c.2425G>A (p.(Gly809Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001049894" "0" "50" "1" "7740250" "7740250" "subst" "0" "01804" "CAMTA1_000154" "g.7740250G>A" "" "" "" "CAMTA1(NM_001349613.1):c.18G>A (p.(Gly6=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049895" "0" "30" "1" "7792599" "7792599" "subst" "1.63039E-5" "01804" "CAMTA1_000155" "g.7792599G>A" "" "" "" "CAMTA1(NM_015215.4):c.3006G>A (p.(Ala1002=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001049896" "0" "30" "1" "7792669" "7792669" "subst" "3.97832E-5" "01804" "CAMTA1_000156" "g.7792669G>A" "" "" "" "CAMTA1(NM_015215.4):c.3066+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001049897" "0" "30" "1" "7798280" "7798280" "subst" "1.63129E-5" "01804" "CAMTA1_000157" "g.7798280C>G" "" "" "" "CAMTA1(NM_015215.4):c.3920C>G (p.(Thr1307Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001062948" "0" "30" "1" "7723485" "7723485" "subst" "0.000123823" "02325" "CAMTA1_000158" "g.7723485G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001062949" "0" "50" "1" "7724961" "7724961" "subst" "0" "02325" "CAMTA1_000159" "g.7724961G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001062950" "0" "70" "1" "7796446" "7796447" "del" "0" "02325" "CAMTA1_000160" "g.7796446_7796447del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes CAMTA1 ## 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}}" "0000010282" "00001075" "50" "235" "-47927" "235" "-47926" "c.235-47927_235-47926insAG" "r.(=)" "p.(=)" "" "0000011356" "00001075" "50" "235" "-128552" "235" "-128552" "c.235-128552C>G" "r.(=)" "p.(=)" "" "0000011357" "00001075" "50" "510" "67164" "510" "67164" "c.510+67164G>A" "r.(=)" "p.(=)" "" "0000011358" "00001075" "50" "510" "67272" "510" "67272" "c.510+67272G>A" "r.(=)" "p.(=)" "" "0000079313" "00001075" "00" "510" "10344" "2914" "22670" "c.510+10344_2914+22670del" "r.?" "p.?" "" "0000079412" "00001075" "00" "3403" "0" "3403" "0" "c.3403C>T" "r.(?)" "p.(Arg1135Trp)" "" "0000248977" "00001075" "10" "2914" "6" "2914" "6" "c.2914+6A>G" "r.(=)" "p.(=)" "" "0000266473" "00001075" "30" "3264" "0" "3264" "0" "c.3264T>G" "r.(?)" "p.(Arg1088=)" "" "0000266474" "00001075" "10" "3531" "0" "3531" "0" "c.3531C>G" "r.(?)" "p.(Asn1177Lys)" "" "0000266475" "00001075" "30" "4132" "0" "4132" "0" "c.4132C>A" "r.(?)" "p.(Arg1378Ser)" "" "0000266476" "00001075" "10" "4690" "-245" "4690" "-245" "c.4690-245G>A" "r.(=)" "p.(=)" "" "0000266477" "00001075" "50" "820" "0" "820" "0" "c.820G>A" "r.(?)" "p.(Val274Met)" "" "0000272585" "00001075" "30" "2190" "0" "2190" "0" "c.2190C>T" "r.(?)" "p.(Ala730=)" "" "0000272586" "00001075" "50" "3043" "0" "3043" "0" "c.3043G>A" "r.(?)" "p.(Gly1015Arg)" "" "0000272587" "00001075" "30" "3471" "0" "3471" "0" "c.3471G>A" "r.(?)" "p.(Val1157=)" "" "0000272588" "00001075" "30" "3723" "0" "3723" "0" "c.3723G>A" "r.(?)" "p.(Pro1241=)" "" "0000272589" "00001075" "30" "786" "0" "786" "0" "c.786C>T" "r.(?)" "p.(Cys262=)" "" "0000272590" "00001075" "30" "806" "-5" "806" "-5" "c.806-5del" "r.spl?" "p.?" "" "0000320505" "00001075" "30" "49" "0" "49" "0" "c.49G>A" "r.(?)" "p.(Val17Ile)" "" "0000320506" "00001075" "50" "234" "46553" "234" "46553" "c.234+46553T>G" "r.(=)" "p.(=)" "" "0000320507" "00001075" "50" "986" "0" "986" "0" "c.986A>G" "r.(?)" "p.(Lys329Arg)" "" "0000320508" "00001075" "50" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.(Ala385Val)" "" "0000320510" "00001075" "50" "3673" "0" "3673" "0" "c.3673C>T" "r.(?)" "p.(Arg1225Cys)" "" "0000320511" "00001075" "50" "3853" "0" "3853" "0" "c.3853G>A" "r.(?)" "p.(Glu1285Lys)" "" "0000344295" "00001075" "90" "576" "0" "576" "0" "c.576C>A" "r.(?)" "p.(Cys192Ter)" "" "0000344781" "00001075" "50" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Gln348Glu)" "" "0000345601" "00001075" "50" "2941" "0" "2941" "0" "c.2941G>A" "r.(?)" "p.(Glu981Lys)" "" "0000345726" "00001075" "70" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Ter)" "" "0000347529" "00001075" "30" "986" "0" "986" "0" "c.986A>G" "r.(?)" "p.(Lys329Arg)" "" "0000461179" "00001075" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144*)" "5" "0000461180" "00001075" "90" "576" "0" "576" "0" "c.576C>A" "r.(?)" "p.(Cys192*)" "7" "0000461181" "00001075" "70" "404" "0" "404" "0" "c.404A>G" "r.(?)" "p.(Glu135Gly)" "5" "0000461182" "00001075" "90" "379" "0" "380" "0" "c.379_380del" "r.(?)" "p.(Arg127Glufs*152)" "5" "0000508272" "00001075" "30" "109" "0" "109" "0" "c.109A>G" "r.(?)" "p.(Ile37Val)" "" "0000508284" "00001075" "50" "234" "46555" "234" "46555" "c.234+46555A>T" "r.(=)" "p.(=)" "" "0000508290" "00001075" "70" "379" "0" "380" "0" "c.379_380del" "r.(?)" "p.(Arg127GlufsTer152)" "" "0000508291" "00001075" "90" "404" "0" "404" "0" "c.404A>G" "r.(?)" "p.(Glu135Gly)" "" "0000508357" "00001075" "50" "495" "0" "495" "0" "c.495C>G" "r.(?)" "p.(Cys165Trp)" "" "0000508365" "00001075" "30" "511" "-10" "511" "-10" "c.511-10C>T" "r.(=)" "p.(=)" "" "0000508368" "00001075" "30" "939" "0" "939" "0" "c.939C>T" "r.(?)" "p.(His313=)" "" "0000508369" "00001075" "30" "1092" "0" "1092" "0" "c.1092C>T" "r.(?)" "p.(Ser364=)" "" "0000508372" "00001075" "10" "1245" "0" "1245" "0" "c.1245C>T" "r.(?)" "p.(Thr415=)" "" "0000508373" "00001075" "30" "1302" "0" "1302" "0" "c.1302C>T" "r.(?)" "p.(Ala434=)" "" "0000508374" "00001075" "30" "1314" "0" "1314" "0" "c.1314T>C" "r.(?)" "p.(Asp438=)" "" "0000508375" "00001075" "30" "1421" "0" "1421" "0" "c.1421G>A" "r.(?)" "p.(Arg474Gln)" "" "0000508376" "00001075" "50" "1955" "0" "1955" "0" "c.1955C>T" "r.(?)" "p.(Ser652Leu)" "" "0000508377" "00001075" "30" "2090" "0" "2090" "0" "c.2090C>T" "r.(?)" "p.(Ala697Val)" "" "0000508378" "00001075" "30" "2090" "0" "2090" "0" "c.2090C>T" "r.(?)" "p.(Ala697Val)" "" "0000508379" "00001075" "50" "2120" "0" "2120" "0" "c.2120C>G" "r.(?)" "p.(Ser707Cys)" "" "0000508381" "00001075" "90" "2357" "0" "2357" "0" "c.2357del" "r.(?)" "p.(Gly786AlafsTer48)" "" "0000508382" "00001075" "50" "2372" "0" "2372" "0" "c.2372A>G" "r.(?)" "p.(Tyr791Cys)" "" "0000508383" "00001075" "50" "2458" "0" "2458" "0" "c.2458T>C" "r.(?)" "p.(Cys820Arg)" "" "0000508384" "00001075" "30" "2521" "0" "2521" "0" "c.2521A>G" "r.(?)" "p.(Ser841Gly)" "" "0000508385" "00001075" "30" "2545" "0" "2545" "0" "c.2545G>A" "r.(?)" "p.(Ala849Thr)" "" "0000508386" "00001075" "30" "2725" "0" "2725" "0" "c.2725A>T" "r.(?)" "p.(Ile909Phe)" "" "0000508387" "00001075" "10" "2730" "0" "2730" "0" "c.2730A>G" "r.(?)" "p.(Ser910=)" "" "0000508389" "00001075" "50" "3397" "0" "3397" "0" "c.3397G>A" "r.(?)" "p.(Asp1133Asn)" "" "0000508390" "00001075" "50" "3401" "0" "3401" "0" "c.3401G>A" "r.(?)" "p.(Arg1134His)" "" "0000508391" "00001075" "30" "3420" "0" "3420" "0" "c.3420C>T" "r.(?)" "p.(Pro1140=)" "" "0000508392" "00001075" "30" "3598" "0" "3598" "0" "c.3598G>A" "r.(?)" "p.(Glu1200Lys)" "" "0000508393" "00001075" "30" "3653" "0" "3653" "0" "c.3653A>C" "r.(?)" "p.(Asn1218Thr)" "" "0000508395" "00001075" "10" "4007" "0" "4007" "0" "c.4007C>T" "r.(?)" "p.(Thr1336Ile)" "" "0000508396" "00001075" "10" "4125" "0" "4125" "0" "c.4125G>A" "r.(?)" "p.(Gly1375=)" "" "0000508401" "00001075" "50" "4816" "0" "4816" "0" "c.4816A>G" "r.(?)" "p.(Ser1606Gly)" "" "0000604336" "00001075" "90" "439" "-16785" "2914" "21005" "c.(438+1_439-16785)_(2914+21005_2915-1)del" "r.?" "p.(Cys147Ilefs*22)" "5i_12i" "0000604337" "00001075" "90" "439" "-16785" "2914" "21271" "c.(438+1_439-16785)_(2914+21271_2915-1)del" "r.?" "p.(Cys147Ilefs*22)" "5i_12i" "0000604338" "00001075" "90" "235" "-32096" "302" "48964" "c.(234+1_235-32096)_(302+48964_303-1)del" "r.235_302del,436_510del,[235_302del;436_510del]]" "p.[Glu79Thrfs*178,?]" "3i_4i" "0000604344" "00001075" "90" "115" "2062" "439" "-105775" "c.(115+1_115+2062)_(439-105775_439-1)dup" "r.(?)" "p.(Asp39Valfs*133)" "2i_5i" "0000604345" "00001075" "70" "45" "8816" "234" "18329" "c.(45+1_45+8816)_(234+18329_235-1)del" "r.(?)" "p.(Ser16_Glu78del)" "1i_3i" "0000604417" "00001075" "90" "235" "-32096" "302" "48964" "c.(234+1_235-32096)_(302+48964_303-1)del" "r.?" "p.?" "3i_4i" "0000604418" "00001075" "90" "235" "-32096" "302" "48964" "c.(234+1_235-32096)_(302+48964_303-1)del" "r.?" "p.?" "3i_4i" "0000604419" "00001075" "90" "235" "-32096" "302" "48964" "c.(234+1_235-32096)_(302+48964_303-1)del" "r.?" "p.?" "3i_4i" "0000604420" "00001075" "90" "235" "-32096" "302" "48964" "c.(234+1_235-32096)_(302+48964_303-1)del" "r.?" "p.?" "3i_4i" "0000604421" "00001075" "90" "235" "-32096" "302" "48964" "c.(234+1_235-32096)_(302+48964_303-1)del" "r.?" "p.?" "3i_4i" "0000604422" "00001075" "90" "235" "-32096" "302" "48964" "c.(234+1_235-32096)_(302+48964_303-1)del" "r.?" "p.?" "3i_4i" "0000604423" "00001075" "90" "115" "2062" "439" "-105775" "c.(115+1_115+2062)_(439-105775_439-1)dup" "r.?" "p.?" "2i_5i" "0000604424" "00001075" "90" "115" "2062" "439" "-105775" "c.(115+1_115+2062)_(439-105775_439-1)dup" "r.?" "p.?" "2i_5i" "0000604453" "00001075" "90" "-251258" "0" "234" "14105" "c.(-350000_-251258)_(234+14105_235-1)del" "r.0?" "p.0?" "_1_3i" "0000605948" "00001075" "30" "4447" "0" "4447" "0" "c.4447G>A" "r.(?)" "p.(Ala1483Thr)" "" "0000605949" "00001075" "50" "4838" "0" "4838" "0" "c.4838G>A" "r.(?)" "p.(Arg1613Lys)" "" "0000620696" "00001075" "70" "2652" "2" "2652" "2" "c.2652+2T>A" "r.spl?" "p.?" "" "0000620697" "00001075" "30" "4395" "0" "4395" "0" "c.4395C>T" "r.(?)" "p.(Thr1465=)" "" "0000620698" "00001075" "30" "4560" "0" "4560" "0" "c.4560A>G" "r.(?)" "p.(Glu1520=)" "" "0000654105" "00001075" "50" "255" "0" "255" "0" "c.255A>G" "r.(?)" "p.(Ile85Met)" "" "0000654107" "00001075" "30" "4007" "0" "4007" "0" "c.4007C>T" "r.(?)" "p.(Thr1336Ile)" "" "0000654108" "00001075" "50" "4245" "0" "4245" "0" "c.4245G>C" "r.(?)" "p.(Glu1415Asp)" "" "0000675922" "00001075" "70" "424" "0" "424" "0" "c.424del" "r.(?)" "p.(Val142SerfsTer39)" "" "0000675932" "00001075" "30" "4435" "0" "4435" "0" "c.4435G>A" "r.(?)" "p.(Val1479Ile)" "" "0000675933" "00001075" "70" "4774" "0" "4774" "0" "c.4774C>T" "r.(?)" "p.(Gln1592Ter)" "" "0000675934" "00001075" "30" "5030" "0" "5030" "0" "c.*8C>T" "r.(=)" "p.(=)" "" "0000717682" "00001075" "30" "234" "5" "234" "5" "c.234+5A>T" "r.spl?" "p.?" "" "0000717686" "00001075" "30" "363" "0" "363" "0" "c.363G>A" "r.(?)" "p.(Gly121=)" "" "0000717695" "00001075" "90" "882" "0" "882" "0" "c.882del" "r.(?)" "p.(Tyr297Thrfs*93)" "" "0000717696" "00001075" "90" "1076" "0" "1077" "0" "c.1076_1077del" "r.(?)" "p.(Pro359Argfs*48)" "" "0000717697" "00001075" "30" "2163" "0" "2163" "0" "c.2163G>A" "r.(?)" "p.(Pro721=)" "" "0000717698" "00001075" "50" "2323" "0" "2323" "0" "c.2323G>A" "r.(?)" "p.(Asp775Asn)" "" "0000717699" "00001075" "30" "2563" "0" "2563" "0" "c.2563G>A" "r.(?)" "p.(Ala855Thr)" "" "0000717700" "00001075" "50" "4394" "0" "4394" "0" "c.4394C>G" "r.(?)" "p.(Thr1465Ser)" "" "0000717701" "00001075" "50" "4840" "0" "4840" "0" "c.4840C>T" "r.(?)" "p.(Arg1614Trp)" "" "0000717702" "00001075" "50" "4975" "0" "4975" "0" "c.4975A>G" "r.(?)" "p.(Arg1659Gly)" "" "0000735249" "00001075" "50" "4418" "0" "4418" "0" "c.4418G>C" "r.(?)" "p.(Ser1473Thr)" "" "0000735252" "00001075" "50" "4418" "0" "4418" "0" "c.4418G>C" "r.(?)" "p.(Ser1473Thr)" "" "0000790967" "00001075" "70" "882" "0" "883" "0" "c.882_883del" "r.(?)" "p.(Gly296Valfs*11)" "" "0000790968" "00001075" "70" "3476" "0" "3476" "0" "c.3476T>A" "r.(?)" "p.(Leu1159*)" "" "0000799527" "00001075" "30" "1230" "0" "1230" "0" "c.1230C>T" "r.(?)" "p.(Tyr410=)" "" "0000799528" "00001075" "30" "1602" "0" "1602" "0" "c.1602C>T" "r.(?)" "p.(Thr534=)" "" "0000799529" "00001075" "30" "2915" "-4" "2915" "-4" "c.2915-4C>T" "r.spl?" "p.?" "" "0000799530" "00001075" "30" "3655" "0" "3655" "0" "c.3655C>G" "r.(?)" "p.(Pro1219Ala)" "" "0000812940" "00001075" "90" "4767" "0" "4767" "0" "c.4767del" "r.(?)" "p.(Lys1589AsnfsTer33)" "" "0000848847" "00001075" "30" "1086" "0" "1086" "0" "c.1086C>T" "r.(?)" "p.(Ile362=)" "" "0000848848" "00001075" "50" "2652" "1" "2652" "1" "c.2652+1G>A" "r.spl?" "p.?" "" "0000848849" "00001075" "50" "3853" "0" "3853" "0" "c.3853G>A" "r.(?)" "p.(Glu1285Lys)" "" "0000857606" "00001075" "50" "796" "0" "796" "0" "c.796G>A" "r.(?)" "p.(Gly266Ser)" "" "0000857607" "00001075" "50" "2484" "0" "2484" "0" "c.2484G>A" "r.(?)" "p.(Gln828=)" "" "0000857608" "00001075" "70" "3456" "0" "3456" "0" "c.3456del" "r.(?)" "p.(Arg1152Serfs*6)" "" "0000857609" "00001075" "30" "4398" "0" "4398" "0" "c.4398T>G" "r.(?)" "p.(Pro1466=)" "" "0000883563" "00001075" "30" "49" "0" "49" "0" "c.49G>A" "r.(?)" "p.(Val17Ile)" "" "0000883597" "00001075" "30" "1955" "0" "1955" "0" "c.1955C>T" "r.(?)" "p.(Ser652Leu)" "" "0000883598" "00001075" "30" "2548" "0" "2548" "0" "c.2548G>A" "r.(?)" "p.(Glu850Lys)" "" "0000883599" "00001075" "30" "2788" "0" "2788" "0" "c.2788A>G" "r.(?)" "p.(Thr930Ala)" "" "0000883600" "00001075" "50" "4571" "0" "4571" "0" "c.4571T>C" "r.(?)" "p.(Leu1524Pro)" "" "0000908876" "00001075" "70" "488" "0" "488" "0" "c.488G>A" "r.488g>a" "p.Arg163Gln" "" "0000911133" "00001075" "50" "3748" "0" "3748" "0" "c.3748C>T" "r.(?)" "p.(Pro1250Ser)" "" "0000923242" "00001075" "70" "4687" "0" "4687" "0" "c.4687dup" "r.(?)" "p.(Gln1563Profs*6)" "" "0000928215" "00001075" "70" "4675" "0" "4675" "0" "c.4675del" "r.(?)" "p.(Arg1559Glufs*12)" "" "0000974089" "00001075" "30" "-2" "0" "1" "0" "c.-2_1del" "r.?" "p.?" "" "0000974092" "00001075" "30" "302" "38548" "302" "38549" "c.302+38548_302+38549insG" "r.(=)" "p.(=)" "" "0000974109" "00001075" "50" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Pro577Ser)" "" "0000974110" "00001075" "30" "2507" "0" "2507" "0" "c.2507C>T" "r.(?)" "p.(Ser836Leu)" "" "0000974111" "00001075" "30" "2602" "0" "2602" "0" "c.2602G>A" "r.(?)" "p.(Gly868Arg)" "" "0000974112" "00001075" "50" "2941" "0" "2941" "0" "c.2941G>A" "r.(?)" "p.(Glu981Lys)" "" "0000974113" "00001075" "50" "3031" "0" "3031" "0" "c.3031G>A" "r.(?)" "p.(Gly1011Ser)" "" "0000974114" "00001075" "50" "5015" "0" "5015" "0" "c.5015G>A" "r.(?)" "p.(Gly1672Glu)" "" "0000991406" "00001075" "30" "319" "0" "319" "0" "c.319A>G" "r.(?)" "p.(Met107Val)" "" "0000991417" "00001075" "50" "604" "0" "604" "0" "c.604G>C" "r.(?)" "p.(Asp202His)" "" "0000991418" "00001075" "50" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Ser340Asn)" "" "0000991419" "00001075" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Val432Ile)" "" "0000991420" "00001075" "30" "1327" "0" "1327" "0" "c.1327G>A" "r.(?)" "p.(Ala443Thr)" "" "0000991421" "00001075" "30" "1421" "0" "1421" "0" "c.1421G>C" "r.(?)" "p.(Arg474Pro)" "" "0000991422" "00001075" "30" "1787" "0" "1787" "0" "c.1787C>T" "r.(?)" "p.(Thr596Met)" "" "0000991423" "00001075" "30" "2162" "0" "2162" "0" "c.2162C>T" "r.(?)" "p.(Pro721Leu)" "" "0000991424" "00001075" "30" "2210" "0" "2210" "0" "c.2210C>T" "r.(?)" "p.(Pro737Leu)" "" "0000991425" "00001075" "50" "2840" "0" "2840" "0" "c.2840C>T" "r.(?)" "p.(Ser947Leu)" "" "0000991426" "00001075" "50" "2978" "0" "2978" "0" "c.2978T>A" "r.(?)" "p.(Met993Lys)" "" "0000991427" "00001075" "50" "3382" "0" "3382" "0" "c.3382G>A" "r.(?)" "p.(Val1128Met)" "" "0000991428" "00001075" "70" "3578" "0" "3578" "0" "c.3578G>A" "r.(?)" "p.(Trp1193*)" "" "0000991429" "00001075" "50" "3578" "0" "3578" "0" "c.3578G>T" "r.(?)" "p.(Trp1193Leu)" "" "0000991430" "00001075" "30" "3653" "0" "3653" "0" "c.3653A>C" "r.(?)" "p.(Asn1218Thr)" "" "0000991432" "00001075" "50" "4789" "0" "4789" "0" "c.4789G>T" "r.(?)" "p.(Ala1597Ser)" "" "0000991433" "00001075" "30" "4846" "0" "4846" "0" "c.4846G>T" "r.(?)" "p.(Ala1616Ser)" "" "0000991434" "00001075" "50" "4922" "0" "4922" "0" "c.4922G>A" "r.(?)" "p.(Arg1641Gln)" "" "0001011986" "00001075" "90" "4621" "0" "4621" "0" "c.4621C>T" "r.(?)" "p.(Arg1541Ter)" "" "0001013346" "00001075" "50" "4182" "2" "4182" "2" "c.4182+2T>C" "r.spl?" "p.?" "" "0001032178" "00001075" "30" "511" "-16643" "511" "-16643" "c.511-16643C>T" "r.(=)" "p.(=)" "" "0001032179" "00001075" "30" "820" "0" "820" "0" "c.820G>A" "r.(?)" "p.(Val274Met)" "" "0001032180" "00001075" "30" "1984" "0" "1984" "0" "c.1984G>A" "r.(?)" "p.(Val662Met)" "" "0001032183" "00001075" "50" "2941" "0" "2941" "0" "c.2941G>A" "r.(?)" "p.(Glu981Lys)" "" "0001032184" "00001075" "30" "3022" "0" "3036" "0" "c.3022_3036dup" "r.(?)" "p.(Ser1008_Ser1012dup)" "" "0001032185" "00001075" "50" "3109" "0" "3109" "0" "c.3109C>T" "r.(?)" "p.(Arg1037Cys)" "" "0001032188" "00001075" "30" "5030" "0" "5030" "0" "c.*8C>T" "r.(=)" "p.(=)" "" "0001045695" "00001075" "70" "618" "0" "618" "0" "c.618G>A" "r.(?)" "p.(Trp206*)" "" "0001049887" "00001075" "30" "-2" "0" "1" "0" "c.-2_1dup" "r.?" "p.?" "" "0001049888" "00001075" "30" "818" "0" "818" "0" "c.818G>A" "r.(?)" "p.(Ser273Asn)" "" "0001049889" "00001075" "30" "1189" "0" "1189" "0" "c.1189G>A" "r.(?)" "p.(Ala397Thr)" "" "0001049890" "00001075" "30" "1498" "0" "1498" "0" "c.1498G>T" "r.(?)" "p.(Gly500Cys)" "" "0001049891" "00001075" "30" "1658" "0" "1658" "0" "c.1658C>T" "r.(?)" "p.(Ala553Val)" "" "0001049892" "00001075" "50" "1958" "0" "1958" "0" "c.1958C>T" "r.(?)" "p.(Ser653Phe)" "" "0001049893" "00001075" "30" "2425" "0" "2425" "0" "c.2425G>A" "r.(?)" "p.(Gly809Arg)" "" "0001049894" "00001075" "50" "2914" "2457" "2914" "2457" "c.2914+2457G>A" "r.(=)" "p.(=)" "" "0001049895" "00001075" "30" "3006" "0" "3006" "0" "c.3006G>A" "r.(?)" "p.(=)" "" "0001049896" "00001075" "30" "3066" "10" "3066" "10" "c.3066+10G>A" "r.(=)" "p.(=)" "" "0001049897" "00001075" "30" "3920" "0" "3920" "0" "c.3920C>G" "r.(?)" "p.(Thr1307Ser)" "" "0001062948" "00001075" "30" "878" "0" "878" "0" "c.878G>A" "r.(?)" "p.(Arg293Gln)" "" "0001062949" "00001075" "50" "2354" "0" "2354" "0" "c.2354G>C" "r.(?)" "p.(Gly785Ala)" "" "0001062950" "00001075" "70" "3109" "0" "3110" "0" "c.3109_3110del" "r.(?)" "p.(Arg1037Cysfs*57)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 30 "{{screeningid}}" "{{variantid}}" "0000000210" "0000010282" "0000000210" "0000011356" "0000000210" "0000011357" "0000000210" "0000011358" "0000050333" "0000079313" "0000050432" "0000079412" "0000227165" "0000461179" "0000227166" "0000461180" "0000227167" "0000461181" "0000227168" "0000461182" "0000270565" "0000604336" "0000270566" "0000604337" "0000270567" "0000604338" "0000270568" "0000604344" "0000270573" "0000604345" "0000270633" "0000604417" "0000270634" "0000604418" "0000270635" "0000604419" "0000270636" "0000604420" "0000270637" "0000604421" "0000270638" "0000604422" "0000270639" "0000604423" "0000270640" "0000604424" "0000270648" "0000604453" "0000336152" "0000735249" "0000336154" "0000735252" "0000378257" "0000790967" "0000378258" "0000790968" "0000429403" "0000908876" "0000457483" "0001011986"