### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PPP2R1A) # 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}}" "PPP2R1A" "protein phosphatase 2, regulatory subunit A, alpha" "19" "q13" "unknown" "NC_000019.9" "UD_132378821364" "" "http://www.LOVD.nl/PPP2R1A" "" "1" "9302" "5518" "605983" "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/PPP2R1A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-03-18 19:43:36" "00000" "2025-09-25 10:16:03" ## 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}}" "00016694" "PPP2R1A" "transcript variant 1" "001" "NM_014225.5" "" "NP_055040.2" "" "" "" "-295" "2214" "1770" "52693055" "52729678" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04623" "HJS2;MRD36" "Houge-Janssens syndrome, type 2" "AD" "616362" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2025-03-18 19:44:50" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PPP2R1A" "04623" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00050405" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050460" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050691" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00307962" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:28940097}" "familial" "M" "" "" "" "0" "" "" "" "15DG2336" "00401571" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "183P" "00438687" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0692" "00440386" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2709.1" "00464593" "" "" "" "1" "" "00006" "{PMID:Houge 2015:26168268}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat12" "00464594" "" "" "" "1" "" "00006" "{PMID:Houge 2015:26168268}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat13" "00464595" "" "" "" "1" "" "00006" "{PMID:Houge 2015:26168268}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat14" "00464596" "" "" "" "1" "" "00006" "{PMID:Houge 2015:26168268}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat15" "00464597" "" "" "" "1" "" "00006" "{PMID:Houge 2015:26168268}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat16" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00050405" "00198" "00050460" "00198" "00050691" "00198" "00307962" "00139" "00401571" "00139" "00438687" "06906" "00440386" "00198" "00464593" "00139" "00464594" "00139" "00464595" "00139" "00464596" "00139" "00464597" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 04623, 06906 ## Count = 11 "{{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}}" "0000037017" "00198" "00050405" "00006" "Isolated (sporadic)" "" "plagiocephaly, anteverted nares, muscular hypotonia, broad hallux, abnormal hair whorl, abnormality of the eye, hydrocephalus, seizures, thin corpus callosum" "" "" "" "" "" "" "" "" "" "" "" "0000037072" "00198" "00050460" "00006" "Isolated (sporadic)" "" "intellectual disability, finger joint hypermobility, joint hypermobility, aplasia/hypoplasia of the corpus callosum, deviation of the 5th finger, pectus excavatum, seizures" "" "" "" "" "" "" "" "" "" "" "" "0000037303" "00198" "00050691" "00006" "Isolated (sporadic)" "" "delayed gross motor development, aplasia/hypoplasia of the corpus callosum, congenital visual impairment, plagiocephaly, facial asymmetry, prominent metopic ridge" "" "" "" "" "" "" "" "" "" "" "" "0000233385" "00139" "00307962" "00006" "Familial, autosomal dominant" "5y" "see paper; ..., Global developmental delay, IUGR, Hypospadias, Cryptorchidism, Central sleep apnea, Epicanthus inversus, Underdeveloped nasal alae, Hypotelorism, Scoliosis" "" "" "" "" "" "" "" "" "" "intellectual diability" "" "0000328590" "06906" "00438687" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000330296" "00198" "00440386" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Autosomal dominant mental retardation-36 (MIM #616362)" "" "" "0000350579" "00139" "00464593" "00006" "Isolated (sporadic)" "3.5y" "see paper; ..., severe intellectual disability, severe developmental delay" "" "" "" "" "" "" "" "" "HJS2" "intellectual disability" "" "0000350580" "00139" "00464594" "00006" "Isolated (sporadic)" "4y" "see paper; ..., severe intellectual disability, severe developmental delay" "" "" "" "" "" "" "" "" "HJS2" "intellectual disability" "" "0000350581" "00139" "00464595" "00006" "Isolated (sporadic)" "11y" "see paper; ..., severe intellectual disability, severe developmental delay" "" "" "" "" "" "" "" "" "HJS2" "intellectual disability" "" "0000350582" "00139" "00464596" "00006" "Isolated (sporadic)" "1y" "see paper; ..., severe intellectual disability, severe developmental delay" "" "" "" "" "" "" "" "" "HJS2" "intellectual disability" "" "0000350583" "00139" "00464597" "00006" "Isolated (sporadic)" "5y" "see paper; ..., severe intellectual disability, severe developmental delay" "" "" "" "" "" "" "" "" "HJS2" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050350" "00050405" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050405" "00050460" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050636" "00050691" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000309106" "00307962" "1" "00006" "00006" "2020-08-23 13:31:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000402814" "00401571" "1" "02494" "02494" "2022-02-01 10:12:12" "" "" "SEQ-NG" "DNA" "" "WES" "0000440169" "00438687" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000441871" "00440386" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000466234" "00464593" "1" "00006" "00006" "2025-03-31 14:44:50" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000466235" "00464594" "1" "00006" "00006" "2025-03-31 14:44:50" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000466236" "00464595" "1" "00006" "00006" "2025-03-31 14:44:50" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000466237" "00464596" "1" "00006" "00006" "2025-03-31 14:44:50" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000466238" "00464597" "1" "00006" "00006" "2025-03-31 14:44:50" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000050350" "PPP2R1A" "0000050405" "PPP2R1A" "0000050636" "PPP2R1A" "0000309106" "PPP2R1A" ## 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 = 39 "{{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}}" "0000079330" "0" "90" "19" "52715979" "52715979" "subst" "0" "00006" "PPP2R1A_000001" "g.52715979C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.52212726C>T" "" "pathogenic" "" "0000079385" "0" "90" "19" "52715971" "52715971" "subst" "0" "00006" "PPP2R1A_000002" "g.52715971C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.52212718C>T" "" "pathogenic" "" "0000079616" "0" "90" "19" "52715979" "52715979" "subst" "0" "00006" "PPP2R1A_000001" "g.52715979C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.52212726C>T" "" "pathogenic" "" "0000301150" "0" "90" "19" "52715979" "52715979" "subst" "0" "02326" "PPP2R1A_000001" "g.52715979C>T" "" "" "" "PPP2R1A(NM_014225.5):c.544C>T (p.R182W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52212726C>T" "" "pathogenic" "" "0000301151" "0" "90" "19" "52716329" "52716329" "subst" "0" "02326" "PPP2R1A_000003" "g.52716329G>A" "" "" "" "PPP2R1A(NM_014225.5):c.773G>A (p.(Arg258His), p.R258H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52213076G>A" "" "pathogenic" "" "0000326761" "0" "50" "19" "52716329" "52716329" "subst" "0" "01804" "PPP2R1A_000003" "g.52716329G>A" "" "" "" "PPP2R1A(NM_014225.5):c.773G>A (p.(Arg258His), p.R258H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52213076G>A" "" "VUS" "" "0000326762" "0" "30" "19" "52719090" "52719090" "subst" "0" "01804" "PPP2R1A_000004" "g.52719090A>T" "" "" "" "PPP2R1A(NM_014225.5):c.866A>T (p.(Asn289Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52215837A>T" "" "likely benign" "" "0000341934" "0" "70" "19" "52714672" "52714672" "subst" "0" "02327" "PPP2R1A_000005" "g.52714672C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52211419C>T" "" "likely pathogenic" "" "0000342776" "0" "50" "19" "52722957" "52722957" "subst" "0" "02327" "PPP2R1A_000006" "g.52722957G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52219704G>A" "" "VUS" "" "0000346768" "0" "50" "19" "52728996" "52728996" "subst" "0" "02327" "PPP2R1A_000007" "g.52728996T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52225743T>C" "" "VUS" "" "0000568311" "0" "50" "19" "52716214" "52716214" "subst" "0" "02327" "PPP2R1A_000009" "g.52716214G>A" "" "" "" "PPP2R1A(NM_001363656.1):c.121G>A (p.V41M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52212961G>A" "" "VUS" "" "0000568312" "0" "50" "19" "52716214" "52716214" "subst" "0" "01943" "PPP2R1A_000010" "g.52716214G>C" "" "" "" "PPP2R1A(NM_014225.5):c.658G>C (p.V220L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52212961G>C" "" "VUS" "" "0000568313" "0" "30" "19" "52716287" "52716287" "subst" "0" "01804" "PPP2R1A_000011" "g.52716287T>C" "" "" "" "PPP2R1A(NM_014225.5):c.731T>C (p.(Val244Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52213034T>C" "" "likely benign" "" "0000624077" "0" "50" "19" "52716214" "52716214" "subst" "0" "01943" "PPP2R1A_000009" "g.52716214G>A" "" "" "" "PPP2R1A(NM_001363656.1):c.121G>A (p.V41M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52212961G>A" "" "VUS" "" "0000681503" "0" "50" "19" "52693411" "52693411" "subst" "0" "01943" "PPP2R1A_000013" "g.52693411G>A" "" "" "" "PPP2R1A(NM_014225.5):c.62G>A (p.R21H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000683569" "0" "70" "19" "52709236" "52709236" "subst" "0" "00006" "PPP2R1A_000014" "g.52709236G>A" "" "{PMID:Anazi 2017:28940097}" "" "" "ACMG PM1,PM2, PP3,PP1" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000837051" "0" "50" "19" "52716211" "52716211" "subst" "0" "02494" "PPP2R1A_000015" "g.52716211T>C" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "VUS" "" "0000855683" "0" "30" "19" "52709305" "52709305" "subst" "0.00192319" "01943" "PPP2R1A_000016" "g.52709305C>T" "" "" "" "PPP2R1A(NM_014225.5):c.259C>T (p.H87Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855684" "0" "50" "19" "52716253" "52716253" "subst" "0" "01943" "PPP2R1A_000017" "g.52716253C>G" "" "" "" "PPP2R1A(NM_001363656.1):c.160C>G (p.Q54E), PPP2R1A(NM_014225.5):c.697C>G (p.Q233E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895116" "0" "50" "19" "52693428" "52693428" "subst" "0" "02329" "PPP2R1A_000018" "g.52693428G>T" "" "" "" "PPP2R1A(NM_014225.6):c.78+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895117" "0" "70" "19" "52716217" "52716217" "subst" "0" "02329" "PPP2R1A_000019" "g.52716217C>T" "" "" "" "PPP2R1A(NM_001363656.2):c.124C>T (p.R42W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000906303" "0" "70" "19" "52716212" "52716212" "subst" "0" "03779" "PPP2R1A_000020" "g.52716212C>T" "" "" "" "" "" "Unknown" "" "rs1555791268" "0" "" "" "" "" "likely pathogenic" "" "0000906304" "0" "70" "19" "52716212" "52716212" "subst" "0" "03779" "PPP2R1A_000020" "g.52716212C>T" "" "" "" "" "" "Unknown" "" "rs1555791268" "0" "" "" "" "" "likely pathogenic" "" "0000936467" "0" "70" "19" "52716212" "52716212" "subst" "0" "00006" "PPP2R1A_000020" "g.52716212C>T" "" "{PMID:Hamdan 2017:29100083}" "" "NM_014225:c.C656T (S219L)" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000939813" "0" "70" "19" "52716212" "52716212" "subst" "0" "00006" "PPP2R1A_000020" "g.52716212C>T" "" "{PMID:Nambot 2018:29095811}" "" "" "" "De novo" "" "" "0" "" "" "g.52212959C>T" "" "likely pathogenic (dominant)" "" "0000983637" "0" "30" "19" "52709278" "52709278" "subst" "1.21876E-5" "01804" "PPP2R1A_000021" "g.52709278A>C" "" "" "" "PPP2R1A(NM_014225.5):c.232A>C (p.(Thr78Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005096" "0" "30" "19" "52693362" "52693362" "subst" "0" "01804" "PPP2R1A_000022" "g.52693362G>A" "" "" "" "PPP2R1A(NM_014225.5):c.13G>A (p.(Asp5Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005097" "0" "30" "19" "52693392" "52693392" "subst" "0" "01804" "PPP2R1A_000023" "g.52693392G>C" "" "" "" "PPP2R1A(NM_014225.5):c.43G>C (p.(Val15Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005098" "0" "70" "19" "52715983" "52715983" "subst" "0" "02329" "PPP2R1A_000024" "g.52715983G>A" "" "" "" "PPP2R1A(NM_001363656.2):c.11G>A (p.R4Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001005099" "0" "50" "19" "52724370" "52724370" "subst" "0" "01804" "PPP2R1A_000025" "g.52724370C>G" "" "" "" "PPP2R1A(NM_014225.5):c.1502C>G (p.(Thr501Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030136" "0" "70" "19" "52715971" "52715971" "subst" "0" "00006" "PPP2R1A_000002" "g.52715971C>T" "" "{PMID:Houge 2015:26168268}" "" "" "" "De novo" "" "" "0" "" "" "g.52212718C>T" "" "likely pathogenic (dominant)" "" "0001030137" "0" "70" "19" "52715979" "52715979" "subst" "0" "00006" "PPP2R1A_000001" "g.52715979C>T" "" "{PMID:Houge 2015:26168268}" "" "" "" "De novo" "" "" "0" "" "" "g.52212726C>T" "" "likely pathogenic (dominant)" "" "0001030138" "0" "70" "19" "52715979" "52715979" "subst" "0" "00006" "PPP2R1A_000001" "g.52715979C>T" "" "{PMID:Houge 2015:26168268}" "" "" "" "De novo" "" "" "0" "" "" "g.52212726C>T" "" "likely pathogenic (dominant)" "" "0001030139" "0" "70" "19" "52715979" "52715979" "subst" "0" "00006" "PPP2R1A_000001" "g.52715979C>T" "" "{PMID:Houge 2015:26168268}" "" "" "" "De novo" "" "" "0" "" "" "g.52212726C>T" "" "likely pathogenic (dominant)" "" "0001030140" "0" "70" "19" "52716329" "52716329" "subst" "0" "00006" "PPP2R1A_000003" "g.52716329G>A" "" "{PMID:Houge 2015:26168268}" "" "" "" "De novo" "" "" "0" "" "" "g.52213076G>A" "" "likely pathogenic (dominant)" "" "0001043155" "0" "30" "19" "52708907" "52708907" "subst" "0" "01804" "PPP2R1A_000026" "g.52708907T>C" "" "" "" "PPP2R1A(NM_014225.6):c.170-309T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043156" "0" "30" "19" "52728961" "52728961" "subst" "0" "01804" "PPP2R1A_000027" "g.52728961G>A" "" "" "" "PPP2R1A(NM_014225.6):c.1662-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001048376" "0" "70" "19" "52715959" "52715959" "subst" "0" "03779" "PPP2R1A_000028" "g.52715959C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001048377" "0" "50" "19" "52719275" "52719275" "subst" "0" "03779" "PPP2R1A_000029" "g.52719275C>T" "" "" "" "" "" "Unknown" "" "rs1978547580" "0" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PPP2R1A ## Count = 39 "{{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}}" "0000079330" "00016694" "00" "544" "0" "544" "0" "c.544C>T" "r.(?)" "p.(Arg182Trp)" "" "0000079385" "00016694" "00" "536" "0" "536" "0" "c.536C>T" "r.(?)" "p.(Pro179Leu)" "" "0000079616" "00016694" "00" "544" "0" "544" "0" "c.544C>T" "r.(?)" "p.(Arg182Trp)" "" "0000301150" "00016694" "90" "544" "0" "544" "0" "c.544C>T" "r.(?)" "p.(Arg182Trp)" "" "0000301151" "00016694" "90" "773" "0" "773" "0" "c.773G>A" "r.(?)" "p.(Arg258His)" "" "0000326761" "00016694" "50" "773" "0" "773" "0" "c.773G>A" "r.(?)" "p.(Arg258His)" "" "0000326762" "00016694" "30" "866" "0" "866" "0" "c.866A>T" "r.(?)" "p.(Asn289Ile)" "" "0000341934" "00016694" "70" "430" "0" "430" "0" "c.430C>T" "r.(?)" "p.(Arg144Cys)" "" "0000342776" "00016694" "50" "1142" "0" "1142" "0" "c.1142G>A" "r.(?)" "p.(Arg381Gln)" "" "0000346768" "00016694" "50" "1688" "0" "1688" "0" "c.1688T>C" "r.(?)" "p.(Ile563Thr)" "" "0000568311" "00016694" "50" "658" "0" "658" "0" "c.658G>A" "r.(?)" "p.(Val220Met)" "" "0000568312" "00016694" "50" "658" "0" "658" "0" "c.658G>C" "r.(?)" "p.(Val220Leu)" "" "0000568313" "00016694" "30" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Val244Ala)" "" "0000624077" "00016694" "50" "658" "0" "658" "0" "c.658G>A" "r.(?)" "p.(Val220Met)" "" "0000681503" "00016694" "50" "62" "0" "62" "0" "c.62G>A" "r.(?)" "p.(Arg21His)" "" "0000683569" "00016694" "70" "190" "0" "190" "0" "c.190G>A" "r.(?)" "p.(Glu64Lys)" "" "0000837051" "00016694" "50" "655" "0" "655" "0" "c.655T>C" "r.(?)" "p.(Ser219Pro)" "" "0000855683" "00016694" "30" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(His87Tyr)" "" "0000855684" "00016694" "50" "697" "0" "697" "0" "c.697C>G" "r.(?)" "p.(Gln233Glu)" "" "0000895116" "00016694" "50" "78" "1" "78" "1" "c.78+1G>T" "r.spl?" "p.?" "" "0000895117" "00016694" "70" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221Trp)" "" "0000906303" "00016694" "70" "656" "0" "656" "0" "c.656C>T" "r.(?)" "p.(Ser219Leu)" "" "0000906304" "00016694" "70" "656" "0" "656" "0" "c.656C>T" "r.(?)" "p.(Ser219Leu)" "" "0000936467" "00016694" "70" "656" "0" "656" "0" "c.656C>T" "r.(?)" "p.(Ser219Leu)" "" "0000939813" "00016694" "70" "656" "0" "656" "0" "c.656C>T" "r.(?)" "p.(Ser219Leu)" "6" "0000983637" "00016694" "30" "232" "0" "232" "0" "c.232A>C" "r.(?)" "p.(Thr78Pro)" "" "0001005096" "00016694" "30" "13" "0" "13" "0" "c.13G>A" "r.(?)" "p.(Asp5Asn)" "" "0001005097" "00016694" "30" "43" "0" "43" "0" "c.43G>C" "r.(?)" "p.(Val15Leu)" "" "0001005098" "00016694" "70" "548" "0" "548" "0" "c.548G>A" "r.(?)" "p.(Arg183Gln)" "" "0001005099" "00016694" "50" "1502" "0" "1502" "0" "c.1502C>G" "r.(?)" "p.(Thr501Arg)" "" "0001030136" "00016694" "70" "536" "0" "536" "0" "c.536C>T" "r.(?)" "p.(Pro179Leu)" "" "0001030137" "00016694" "70" "544" "0" "544" "0" "c.544C>T" "r.(?)" "p.(Arg182Trp)" "" "0001030138" "00016694" "70" "544" "0" "544" "0" "c.544C>T" "r.(?)" "p.(Arg182Trp)" "" "0001030139" "00016694" "70" "544" "0" "544" "0" "c.544C>T" "r.(?)" "p.(Arg182Trp)" "" "0001030140" "00016694" "70" "773" "0" "773" "0" "c.773G>A" "r.(?)" "p.(Arg258His)" "" "0001043155" "00016694" "30" "170" "-309" "170" "-309" "c.170-309T>C" "r.(=)" "p.(=)" "" "0001043156" "00016694" "30" "1662" "-9" "1662" "-9" "c.1662-9G>A" "r.(=)" "p.(=)" "" "0001048376" "00016694" "70" "524" "0" "524" "0" "c.524C>G" "r.(?)" "p.(Ser175Ter)" "" "0001048377" "00016694" "50" "941" "0" "941" "0" "c.941C>T" "r.(?)" "p.(Ser314Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000050350" "0000079330" "0000050405" "0000079385" "0000050636" "0000079616" "0000309106" "0000683569" "0000402814" "0000837051" "0000440169" "0000936467" "0000441871" "0000939813" "0000466234" "0001030136" "0000466235" "0001030137" "0000466236" "0001030138" "0000466237" "0001030139" "0000466238" "0001030140"