### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PPP2R2B) # 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}}" "PPP2R2B" "protein phosphatase 2, regulatory subunit B, beta" "5" "q32" "unknown" "NG_011570.2" "UD_132118595257" "" "https://www.LOVD.nl/PPP2R2B" "" "1" "9305" "5521" "604325" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/PPP2R2B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-08-06 16:40:59" "00000" "2021-09-17 14:40:49" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00016697" "PPP2R2B" "transcript variant 6" "001" "NM_181678.2" "" "NP_858064.1" "" "" "" "-275" "1742" "1299" "146461033" "145969067" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "02497" "SCA12" "ataxia, spinocerebellar, type 12 (SCA-12)" "AD" "604326" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05296" "OI" "osteogenesis imperfecta (OI)" "AD" "" "" "" "" "00006" "2017-06-26 22:59:16" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PPP2R2B" "02497" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00300373" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "" "" "China" "" "0" "" "" "" "Fam27" "00302785" "" "" "" "1" "" "00006" "{PMID:Hamdan 2015:25356899}" "" "M" "" "Canada" "" "0" "" "" "" "1841.646" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00300373" "05296" "00302785" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 02497, 05296 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000227681" "05296" "00300373" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "osteogeneis imperfecta type IV" "0000229867" "00139" "00302785" "00006" "Isolated (sporadic)" "6y" "moderate intellectual disability; speech delay, complete sentences; walk-13m; intractable eplilepsy; autistic features; no microcephaly; no macrocephaly; MRI brain normal; no neurological abnormalities; no congenitial malformations; no cardiac malformations; no urogenitory abnormalities" "" "" "" "" "" "" "" "" "intellectual disability" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000301494" "00300373" "1" "00006" "00006" "2020-05-01 16:05:35" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000303911" "00302785" "1" "00006" "00006" "2020-06-01 10:33:11" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000301494" "COL1A2" "0000303911" "PPP2R2B" ## 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 = 12 "{{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}}" "0000306242" "0" "10" "5" "146258320" "146258322" "del" "0" "01943" "PPP2R2B_000002" "g.146258320_146258322del" "" "" "" "PPP2R2B(NM_181675.3):c.55_57delAGC (p.S19del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.146878757_146878759del" "" "benign" "" "0000524670" "0" "30" "5" "145969624" "145969624" "subst" "0.000678906" "01943" "PPP2R2B_000005" "g.145969624G>A" "" "" "" "PPP2R2B(NM_001271948.1):c.1185C>T (p.V395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.146590061G>A" "" "likely benign" "" "0000524672" "0" "30" "5" "146080718" "146080718" "subst" "0" "02326" "PPP2R2B_000007" "g.146080718A>C" "" "" "" "PPP2R2B(NM_001271948.1):c.38-13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.146701155A>C" "" "likely benign" "" "0000524682" "0" "10" "5" "146258314" "146258322" "dup" "0" "01943" "PPP2R2B_000017" "g.146258314_146258322dup" "" "" "" "PPP2R2B(NM_181675.3):c.43_51dupAGCAGCAGC (p.S17_S19dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.146878751_146878759dup" "" "benign" "" "0000609555" "0" "30" "5" "146030293" "146030293" "del" "0.0000165312" "01943" "PPP2R2B_000018" "g.146030293del" "" "" "" "PPP2R2B(NM_001271948.1):c.415-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.146650730del" "" "likely benign" "" "0000609556" "0" "10" "5" "146258305" "146258322" "dup" "0" "01943" "PPP2R2B_000019" "g.146258305_146258322dup" "" "" "" "PPP2R2B(NM_181675.3):c.34_51dupAGCAGCAGCAGCAGCAGC (p.S14_S19dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.146878742_146878759dup" "" "benign" "" "0000609557" "0" "30" "5" "146258311" "146258322" "dup" "0" "01804" "PPP2R2B_000016" "g.146258311_146258322dup" "" "" "" "PPP2R2B(NM_001271948.1):c.-775_-774insAGCAGCAGCAGC (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.146878748_146878759dup" "" "likely benign" "" "0000655316" "0" "50" "5" "146258293" "146258293" "subst" "0" "01943" "PPP2R2B_000020" "g.146258293T>A" "" "" "" "PPP2R2B(NM_181675.3):c.55A>T (p.S19C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.146878730T>A" "" "VUS" "" "0000664516" "0" "70" "5" "0" "0" "" "0" "00006" "PPP2R2B_000000" "g.146294374_qterdelins[NC_000007.13:g.94038710_qter]" "" "{PMID:Liu 2017:28725987}" "" "chr5:146294373,chr7:94038710" "translocation" "Germline/De novo (untested)" "" "" "0" "" "t(5;7)(q32;q21)" "" "" "VUS" "" "0000667313" "0" "70" "5" "146070692" "146070692" "subst" "0" "00006" "PPP2R2B_000021" "g.146070692C>G" "" "{PMID:Hamdan 2015:25356899}" "" "" "" "De novo" "" "" "0" "" "" "g.146691129C>G" "" "pathogenic (dominant)" "" "0000801948" "0" "50" "5" "146080667" "146080667" "subst" "0" "02327" "PPP2R2B_000022" "g.146080667C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801949" "0" "50" "5" "146258320" "146258322" "dup" "0" "01943" "PPP2R2B_000001" "g.146258320_146258322dup" "" "" "" "PPP2R2B(NM_181675.3):c.55_57dupAGC (p.S19dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PPP2R2B ## Count = 12 "{{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}}" "0000306242" "00016697" "10" "-48" "-22147" "-48" "-22145" "c.-48-22147_-48-22145del" "r.(=)" "p.(=)" "" "0000524670" "00016697" "30" "1185" "0" "1185" "0" "c.1185C>T" "r.(?)" "p.(Val395=)" "" "0000524672" "00016697" "30" "38" "-13" "38" "-13" "c.38-13T>G" "r.(=)" "p.(=)" "" "0000524682" "00016697" "10" "-48" "-22153" "-48" "-22145" "c.-48-22153_-48-22145dup" "r.(=)" "p.(=)" "" "0000609555" "00016697" "30" "415" "-6" "415" "-6" "c.415-6del" "r.(=)" "p.(=)" "" "0000609556" "00016697" "10" "-48" "-22162" "-48" "-22145" "c.-48-22162_-48-22145dup" "r.(=)" "p.(=)" "" "0000609557" "00016697" "30" "-48" "-22156" "-48" "-22145" "c.-48-22156_-48-22145dup" "r.(=)" "p.(=)" "" "0000655316" "00016697" "50" "-48" "-22147" "-48" "-22147" "c.-48-22147A>T" "r.(=)" "p.(=)" "" "0000664516" "00016697" "70" "0" "0" "0" "0" "c.-48-58227::[NM_000089.3:c.869]" "r.?" "p.?" "" "0000667313" "00016697" "70" "413" "0" "413" "0" "c.413G>C" "r.(?)" "p.(Arg138Pro)" "" "0000801948" "00016697" "50" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Glu26Lys)" "" "0000801949" "00016697" "50" "-48" "-22147" "-48" "-22145" "c.-48-22147_-48-22145dup" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000301494" "0000664516" "0000303911" "0000667313"