### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PIK3R2) # 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}}" "PIK3R2" "phosphoinositide-3-kinase, regulatory subunit 2 (beta)" "19" "q13.2-q13.4" "unknown" "NG_033010.1" "UD_132462974057" "" "http://www.LOVD.nl/PIK3R2" "" "1" "8980" "5296" "603157" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PIK3R2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-12-08 00:17:03" "00000" "2025-09-25 11:43:03" ## 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}}" "00024151" "PIK3R2" "transcript variant 1" "002" "NM_005027.3" "" "NP_005018.1" "" "" "" "-540" "3426" "2187" "18263988" "18281343" "00006" "2016-06-24 17:36:53" "" "" ## 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" "00844" "MPPH1" "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, type 1 (MPPH-1)" "AD" "603387" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02612" "BFPP" "Polymicrogyria, bilateral frontoparietal" "AR" "606854" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PIK3R2" "00139" "PIK3R2" "00844" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00034521" "" "" "" "1" "" "01265" "" "" "M" "no" "Italy" "" "0" "yes" "" "" "" "00056046" "" "" "" "3" "" "00006" "{PMID:Riviere 2012:22729224}, {DOI:Riviere 2012:10.1038/ng.2331}" "2-generation family, 3 affected sibs (2F, M), unaffected non-carrier parents/sister; suspected germline mosaicism parent since 3 affected sibs share germline variant not detected in either parent (2 tissues)" "M" "no" "" ">16y" "0" "" "" "European" "" "00073756" "" "" "" "1" "" "01470" "" "" "F" "no" "Spain" "" "0" "" "" "" "" "00079901" "" "" "" "1" "" "01742" "{PMID:Mirzaa 2015:26520804}" "" "" "" "" "" "0" "" "" "" "" "00079902" "" "" "" "1" "" "01742" "{PMID:Mirzaa 2015:26520804}" "" "" "" "" "" "0" "" "" "" "" "00081754" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2015:26520804}" "" "" "" "" "" "0" "" "" "" "" "00081755" "" "" "" "1" "" "00006" "{PMID:Mirzaa 2015:26520804}" "" "" "" "" "" "0" "" "" "" "" "00374807" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4894" "00464536" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "323321" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00034521" "00844" "00056046" "00844" "00073756" "02612" "00079901" "00198" "00079902" "00198" "00374807" "00198" "00464536" "00844" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00844, 02612 ## Count = 7 "{{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}}" "0000042699" "00844" "00034521" "01265" "Isolated (sporadic)" "" "MPPH syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000042702" "00844" "00056046" "00006" "Familial" "16y" "mild developmental delay particularly involving speech, later diagnosed with Asperger syndrome; 18m-third ventriculostomy for progressive ventriculomegaly (HP:0002119), no seizures; 12.5y MRI-brain striking megalencephaly (HP:0001355), bilateral perisylvian polymicrogyria (HP:0002126), borderline cerebellar tonsillar ectopia, moderately thick corpus callosum, no vascular malformations, no digital anomalies (no polydactyly (-HP:0010442), no syndactyly (-HP:0001159))" "" "" "ventriculomegaly (HP:0002119)" "" "" "" "" "" "" "" "" "0000054162" "02612" "00073756" "01470" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061393" "00198" "00079901" "01742" "Unknown" "" "Diagnosis: Bilateral perisylvian polymicrogyria (BPP)" "" "" "" "" "" "" "" "" "" "" "" "0000061394" "00198" "00079902" "01742" "Unknown" "" "Diagnosis: Bilateral perisylvian polymicrogyria (BPP)" "" "" "" "" "" "" "" "" "" "" "" "0000270017" "00198" "00374807" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "lissencephaly" "" "0000350535" "00844" "00464536" "01164" "Isolated (sporadic)" "17y" "Intellectual disability, Macrocephaly, Seizure, Neurodevelopmental delay" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000034592" "00034521" "1" "01265" "01265" "2015-03-23 18:06:01" "" "" "SEQ-NG-I" "DNA" "" "" "0000056000" "00056046" "1" "00006" "00006" "2015-12-08 12:05:28" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000073917" "00073756" "1" "01470" "01470" "2016-06-23 13:10:02" "" "" "SEQ-NG" "DNA" "Blood" "" "0000079984" "00079901" "1" "01742" "01742" "2016-08-26 15:12:17" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000079985" "00079902" "1" "01742" "01742" "2016-08-26 15:18:12" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081884" "00081754" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000081885" "00081755" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000376001" "00374807" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000466174" "00464536" "1" "01164" "01164" "2025-03-25 13:52:46" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000034592" "PIK3R2" "0000056000" "PIK3R2" "0000073917" "PIK3R2" "0000079984" "PIK3R2" "0000079985" "PIK3R2" "0000081884" "PIK3R2" "0000081885" "PIK3R2" "0000376001" "PIK3R2" "0000466174" "PIK3R2" ## 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 = 100 "{{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}}" "0000061696" "0" "70" "19" "18278049" "18278049" "subst" "0" "01265" "PIK3R2_000001" "g.18278049G>C" "" "" "" "" "" "De novo" "" "rs372272045" "0" "" "" "g.18167239G>C" "" "likely pathogenic" "" "0000086030" "0" "90" "19" "18273784" "18273784" "subst" "0" "00006" "PIK3R2_000002" "g.18273784G>A" "1/19 MPPH cases" "{PMID:Riviere 2012:22729224}, {DOI:Riviere 2012:10.1038/ng.2331}, {OMIM603157:0001}" "" "" "lymphoblastoid cell analysis shows increased PI3K activity and elevated PI3K-mTOR signaling" "Germline" "yes" "rs587776934" "0" "" "" "g.18162974G>A" "" "pathogenic" "" "0000117710" "0" "70" "19" "18273784" "18273784" "subst" "0" "01470" "PIK3R2_000002" "g.18273784G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.18162974G>A" "" "likely pathogenic" "" "0000128859" "0" "50" "19" "18273784" "18273784" "subst" "0" "01742" "PIK3R2_000002" "g.18273784G>A" "" "{PMID:Mirzaa 2015:26520804}" "" "" "" "Germline" "" "" "0" "" "" "g.18162974G>A" "" "VUS" "" "0000128860" "0" "50" "19" "18273793" "18273793" "subst" "0" "01742" "PIK3R2_000003" "g.18273793A>G" "" "{PMID:Mirzaa 2015:26520804}" "" "" "" "Germline" "" "" "0" "" "" "g.18162983A>G" "" "VUS" "" "0000132587" "0" "50" "19" "18273784" "18273784" "subst" "0" "00006" "PIK3R2_000002" "g.18273784G>A" "" "{PMID:Mirzaa 2015:26520804}" "" "" "" "Germline" "" "" "0" "" "" "g.18162974G>A" "" "VUS" "" "0000132588" "0" "50" "19" "18273793" "18273793" "subst" "0" "00006" "PIK3R2_000003" "g.18273793A>G" "" "{PMID:Mirzaa 2015:26520804}" "" "" "" "Germline" "" "" "0" "" "" "g.18162983A>G" "" "VUS" "" "0000247553" "0" "10" "19" "18272190" "18272190" "subst" "0.884085" "02330" "PIK3R2_000010" "g.18272190A>C" "" "" "" "PIK3R2(NM_005027.3):c.700A>C (p.S234R), PIK3R2(NM_005027.4):c.700A>C (p.S234R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18161380A>C" "" "benign" "" "0000253387" "0" "10" "19" "18272190" "18272190" "subst" "0.884085" "01943" "PIK3R2_000010" "g.18272190A>C" "" "" "" "PIK3R2(NM_005027.3):c.700A>C (p.S234R), PIK3R2(NM_005027.4):c.700A>C (p.S234R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18161380A>C" "" "benign" "" "0000291539" "0" "30" "19" "18260224" "18260224" "subst" "0" "01943" "MAST3_000003" "g.18260224C>T" "" "" "" "MAST3(NM_015016.2):c.3618C>T (p.P1206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18149414C>T" "" "likely benign" "" "0000293763" "0" "10" "19" "18266849" "18266849" "subst" "0.00197931" "02330" "PIK3R2_000005" "g.18266849G>A" "" "" "" "PIK3R2(NM_005027.2):c.160G>A (p.(Val54Met)), PIK3R2(NM_005027.3):c.160G>A (p.V54M), PIK3R2(NM_005027.4):c.160G>A (p.V54M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18156039G>A" "" "benign" "" "0000293764" "0" "10" "19" "18279638" "18279638" "subst" "0.881456" "02330" "PIK3R2_000019" "g.18279638T>C" "" "" "" "PIK3R2(NM_005027.3):c.1911T>C (p.S637=), PIK3R2(NM_005027.4):c.1911T>C (p.S637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18168828T>C" "" "benign" "" "0000293765" "0" "30" "19" "18280032" "18280032" "subst" "0" "02330" "PIK3R2_000021" "g.18280032C>T" "" "" "" "PIK3R2(NM_005027.4):c.2115C>T (p.N705=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18169222C>T" "" "likely benign" "" "0000293766" "0" "10" "19" "18280044" "18280044" "subst" "0.0493655" "02330" "PIK3R2_000022" "g.18280044C>T" "" "" "" "PIK3R2(NM_005027.2):c.2127C>T (p.(Thr709=)), PIK3R2(NM_005027.3):c.2127C>T (p.T709=), PIK3R2(NM_005027.4):c.2127C>T (p.T709=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18169234C>T" "" "benign" "" "0000293767" "0" "10" "19" "18280096" "18280096" "subst" "0.0416117" "02330" "PIK3R2_000024" "g.18280096G>A" "" "" "" "PIK3R2(NM_005027.2):c.2179G>A (p.(Ala727Thr)), PIK3R2(NM_005027.3):c.2179G>A (p.A727T), PIK3R2(NM_005027.4):c.2179G>A (p.A727T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18169286G>A" "" "benign" "" "0000293768" "0" "10" "19" "18273013" "18273013" "subst" "0.043464" "02330" "PIK3R2_000013" "g.18273013G>A" "" "" "" "PIK3R2(NM_005027.2):c.903G>A (p.(Ala301=)), PIK3R2(NM_005027.3):c.903G>A (p.A301=), PIK3R2(NM_005027.4):c.903G>A (p.A301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18162203G>A" "" "benign" "" "0000293769" "0" "10" "19" "18273047" "18273047" "subst" "0.952007" "02330" "PIK3R2_000014" "g.18273047T>C" "" "" "" "PIK3R2(NM_005027.3):c.937T>C (p.S313P), PIK3R2(NM_005027.4):c.937T>C (p.S313P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18162237T>C" "" "benign" "" "0000296960" "0" "10" "19" "18279638" "18279638" "subst" "0.881456" "02325" "PIK3R2_000019" "g.18279638T>C" "" "" "" "PIK3R2(NM_005027.3):c.1911T>C (p.S637=), PIK3R2(NM_005027.4):c.1911T>C (p.S637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18168828T>C" "" "benign" "" "0000296961" "0" "10" "19" "18280044" "18280044" "subst" "0.0493655" "02325" "PIK3R2_000022" "g.18280044C>T" "" "" "" "PIK3R2(NM_005027.2):c.2127C>T (p.(Thr709=)), PIK3R2(NM_005027.3):c.2127C>T (p.T709=), PIK3R2(NM_005027.4):c.2127C>T (p.T709=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18169234C>T" "" "benign" "" "0000296962" "0" "50" "19" "18271304" "18271304" "subst" "1.62652E-5" "02325" "PIK3R2_000007" "g.18271304G>A" "" "" "" "PIK3R2(NM_005027.4):c.346G>A (p.E116K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18160494G>A" "" "VUS" "" "0000296963" "0" "10" "19" "18273047" "18273047" "subst" "0.952007" "02325" "PIK3R2_000014" "g.18273047T>C" "" "" "" "PIK3R2(NM_005027.3):c.937T>C (p.S313P), PIK3R2(NM_005027.4):c.937T>C (p.S313P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18162237T>C" "" "benign" "" "0000300793" "0" "90" "19" "18273784" "18273784" "subst" "0" "02326" "PIK3R2_000002" "g.18273784G>A" "" "" "" "PIK3R2(NM_005027.3):c.1117G>A (p.G373R), PIK3R2(NM_005027.4):c.1117G>A (p.G373R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18162974G>A" "" "pathogenic" "" "0000305631" "0" "30" "19" "18280110" "18280110" "subst" "0.000272347" "01943" "PIK3R2_000025" "g.18280110G>A" "" "" "" "PIK3R2(NM_005027.3):c.*6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18169300G>A" "" "likely benign" "" "0000305632" "0" "90" "19" "18273784" "18273784" "subst" "0" "01943" "PIK3R2_000002" "g.18273784G>A" "" "" "" "PIK3R2(NM_005027.3):c.1117G>A (p.G373R), PIK3R2(NM_005027.4):c.1117G>A (p.G373R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18162974G>A" "" "pathogenic" "" "0000305633" "0" "10" "19" "18277923" "18277923" "subst" "0.00100842" "01943" "PIK3R2_000015" "g.18277923C>T" "" "" "" "PIK3R2(NM_005027.3):c.1560-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18167113C>T" "" "benign" "" "0000305634" "0" "50" "19" "18279558" "18279558" "subst" "0" "01943" "PIK3R2_000018" "g.18279558G>A" "" "" "" "PIK3R2(NM_005027.3):c.1831G>A (p.E611K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18168748G>A" "" "VUS" "" "0000305635" "0" "10" "19" "18279638" "18279638" "subst" "0.881456" "01943" "PIK3R2_000019" "g.18279638T>C" "" "" "" "PIK3R2(NM_005027.3):c.1911T>C (p.S637=), PIK3R2(NM_005027.4):c.1911T>C (p.S637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18168828T>C" "" "benign" "" "0000305636" "0" "30" "19" "18279665" "18279665" "subst" "0.000636577" "01943" "PIK3R2_000020" "g.18279665C>T" "" "" "" "PIK3R2(NM_005027.3):c.1938C>T (p.I646=), PIK3R2(NM_005027.4):c.1938C>T (p.(Ile646=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18168855C>T" "" "likely benign" "" "0000305637" "0" "10" "19" "18280044" "18280044" "subst" "0.0493655" "01943" "PIK3R2_000022" "g.18280044C>T" "" "" "" "PIK3R2(NM_005027.2):c.2127C>T (p.(Thr709=)), PIK3R2(NM_005027.3):c.2127C>T (p.T709=), PIK3R2(NM_005027.4):c.2127C>T (p.T709=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18169234C>T" "" "benign" "" "0000305638" "0" "50" "19" "18280055" "18280055" "subst" "0" "01943" "PIK3R2_000023" "g.18280055C>T" "" "" "" "PIK3R2(NM_005027.3):c.2138C>T (p.A713V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18169245C>T" "" "VUS" "" "0000305639" "0" "10" "19" "18280096" "18280096" "subst" "0.0416117" "01943" "PIK3R2_000024" "g.18280096G>A" "" "" "" "PIK3R2(NM_005027.2):c.2179G>A (p.(Ala727Thr)), PIK3R2(NM_005027.3):c.2179G>A (p.A727T), PIK3R2(NM_005027.4):c.2179G>A (p.A727T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18169286G>A" "" "benign" "" "0000305640" "0" "50" "19" "18266981" "18266981" "subst" "0" "01943" "PIK3R2_000006" "g.18266981G>A" "" "" "" "PIK3R2(NM_005027.3):c.292G>A (p.A98T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18156171G>A" "" "VUS" "" "0000305642" "0" "50" "19" "18271764" "18271764" "subst" "0.0121175" "01943" "PIK3R2_000009" "g.18271764C>T" "" "" "" "PIK3R2(NM_005027.3):c.451C>T (p.P151S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18160954C>T" "" "VUS" "" "0000305643" "0" "50" "19" "18272196" "18272196" "subst" "0.000231107" "01943" "PIK3R2_000011" "g.18272196G>A" "" "" "" "PIK3R2(NM_005027.3):c.706G>A (p.A236T), PIK3R2(NM_005027.4):c.706G>A (p.A236T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18161386G>A" "" "VUS" "" "0000305644" "0" "30" "19" "18272995" "18272995" "subst" "0.000162871" "01943" "PIK3R2_000012" "g.18272995G>A" "" "" "" "PIK3R2(NM_005027.3):c.902-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18162185G>A" "" "likely benign" "" "0000305645" "0" "10" "19" "18273013" "18273013" "subst" "0.043464" "01943" "PIK3R2_000013" "g.18273013G>A" "" "" "" "PIK3R2(NM_005027.2):c.903G>A (p.(Ala301=)), PIK3R2(NM_005027.3):c.903G>A (p.A301=), PIK3R2(NM_005027.4):c.903G>A (p.A301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18162203G>A" "" "benign" "" "0000305646" "0" "10" "19" "18273047" "18273047" "subst" "0.952007" "01943" "PIK3R2_000014" "g.18273047T>C" "" "" "" "PIK3R2(NM_005027.3):c.937T>C (p.S313P), PIK3R2(NM_005027.4):c.937T>C (p.S313P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18162237T>C" "" "benign" "" "0000326340" "0" "50" "19" "18260204" "18260204" "subst" "3.25161E-5" "01804" "MAST3_000002" "g.18260204C>T" "" "" "" "MAST3(NM_015016.1):c.3598C>T (p.(Arg1200Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18149394C>T" "" "VUS" "" "0000326341" "0" "50" "19" "18260232" "18260232" "subst" "0" "01804" "MAST3_000004" "g.18260232C>T" "" "" "" "MAST3(NM_015016.1):c.3626C>T (p.(Pro1209Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18149422C>T" "" "VUS" "" "0000326342" "0" "30" "19" "18266699" "18266699" "subst" "0.00238528" "01804" "PIK3R2_000004" "g.18266699C>T" "" "" "" "PIK3R2(NM_005027.3):c.10C>T (p.(Pro4Ser)), PIK3R2(NM_005027.4):c.10C>T (p.P4S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18155889C>T" "" "likely benign" "" "0000326343" "0" "30" "19" "18266849" "18266849" "subst" "0.00197931" "01804" "PIK3R2_000005" "g.18266849G>A" "" "" "" "PIK3R2(NM_005027.2):c.160G>A (p.(Val54Met)), PIK3R2(NM_005027.3):c.160G>A (p.V54M), PIK3R2(NM_005027.4):c.160G>A (p.V54M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18156039G>A" "" "likely benign" "" "0000326347" "0" "50" "19" "18286007" "18286007" "subst" "0" "01804" "IFI30_000002" "g.18286007C>T" "" "" "" "IFI30(NM_006332.3):c.290C>T (p.(Thr97Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18175197C>T" "" "VUS" "" "0000346036" "0" "90" "19" "18273784" "18273784" "subst" "0" "02327" "PIK3R2_000002" "g.18273784G>A" "" "" "" "PIK3R2(NM_005027.3):c.1117G>A (p.G373R), PIK3R2(NM_005027.4):c.1117G>A (p.G373R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18162974G>A" "" "pathogenic" "" "0000347548" "0" "70" "19" "18273793" "18273793" "subst" "0" "02327" "PIK3R2_000003" "g.18273793A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18162983A>G" "" "likely pathogenic" "" "0000566613" "0" "30" "19" "18266808" "18266808" "subst" "0" "01804" "MAST3_000006" "g.18266808C>T" "" "" "" "PIK3R2(NM_005027.2):c.119C>T (p.(Ala40Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18155998C>T" "" "likely benign" "" "0000566615" "0" "50" "19" "18266970" "18266970" "subst" "0" "02329" "MAST3_000008" "g.18266970G>A" "" "" "" "PIK3R2(NM_005027.4):c.281G>A (p.R94H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18156160G>A" "" "VUS" "" "0000566616" "0" "10" "19" "18271391" "18271391" "dup" "0" "01943" "PIK3R2_000026" "g.18271391dup" "" "" "" "PIK3R2(NM_005027.3):c.415+18dupT, PIK3R2(NM_005027.4):c.415+18dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18160581dup" "" "benign" "" "0000566617" "0" "10" "19" "18273013" "18273013" "subst" "0.043464" "01804" "PIK3R2_000013" "g.18273013G>A" "" "" "" "PIK3R2(NM_005027.2):c.903G>A (p.(Ala301=)), PIK3R2(NM_005027.3):c.903G>A (p.A301=), PIK3R2(NM_005027.4):c.903G>A (p.A301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18162203G>A" "" "benign" "" "0000566618" "0" "30" "19" "18273251" "18273251" "subst" "3.66089E-5" "01943" "PIK3R2_000027" "g.18273251C>T" "" "" "" "PIK3R2(NM_005027.3):c.1044C>T (p.P348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18162441C>T" "" "likely benign" "" "0000566620" "0" "30" "19" "18278096" "18278096" "subst" "0" "02327" "PIK3R2_000029" "g.18278096G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18167286G>T" "" "likely benign" "" "0000566621" "0" "30" "19" "18279529" "18279529" "subst" "0.000321552" "01804" "PIK3R2_000030" "g.18279529A>C" "" "" "" "PIK3R2(NM_005027.2):c.1809-7A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18168719A>C" "" "likely benign" "" "0000566622" "0" "50" "19" "18280085" "18280085" "subst" "0.000300769" "01943" "PIK3R2_000031" "g.18280085C>T" "" "" "" "PIK3R2(NM_005027.3):c.2168C>T (p.P723L), PIK3R2(NM_005027.4):c.2168C>T (p.P723L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18169275C>T" "" "VUS" "" "0000566623" "0" "10" "19" "18280096" "18280096" "subst" "0.0416117" "01804" "PIK3R2_000024" "g.18280096G>A" "" "" "" "PIK3R2(NM_005027.2):c.2179G>A (p.(Ala727Thr)), PIK3R2(NM_005027.3):c.2179G>A (p.A727T), PIK3R2(NM_005027.4):c.2179G>A (p.A727T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18169286G>A" "" "benign" "" "0000566624" "0" "30" "19" "18285896" "18285896" "subst" "0.00232876" "01804" "PIK3R2_000032" "g.18285896C>T" "" "" "" "IFI30(NM_006332.3):c.179C>T (p.(Pro60Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18175086C>T" "" "likely benign" "" "0000617464" "0" "10" "19" "18271391" "18271391" "dup" "0" "02330" "PIK3R2_000026" "g.18271391dup" "" "" "" "PIK3R2(NM_005027.3):c.415+18dupT, PIK3R2(NM_005027.4):c.415+18dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18160581dup" "" "benign" "" "0000617465" "0" "30" "19" "18272187" "18272187" "subst" "0" "01804" "PIK3R2_000034" "g.18272187G>T" "" "" "" "PIK3R2(NM_005027.2):c.697G>T (p.(Ala233Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18161377G>T" "" "likely benign" "" "0000617466" "0" "30" "19" "18272768" "18272768" "subst" "0.000358762" "02330" "PIK3R2_000035" "g.18272768C>T" "" "" "" "PIK3R2(NM_005027.4):c.816-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18161958C>T" "" "likely benign" "" "0000617467" "0" "30" "19" "18272832" "18272832" "subst" "0.000126115" "01804" "PIK3R2_000036" "g.18272832A>G" "" "" "" "PIK3R2(NM_005027.2):c.872A>G (p.(His291Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18162022A>G" "" "likely benign" "" "0000617468" "0" "30" "19" "18280044" "18280044" "subst" "0.0493655" "01804" "PIK3R2_000022" "g.18280044C>T" "" "" "" "PIK3R2(NM_005027.2):c.2127C>T (p.(Thr709=)), PIK3R2(NM_005027.3):c.2127C>T (p.T709=), PIK3R2(NM_005027.4):c.2127C>T (p.T709=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18169234C>T" "" "likely benign" "" "0000681338" "0" "30" "19" "18266745" "18266745" "subst" "4.1376E-5" "01943" "MAST3_000009" "g.18266745G>A" "" "" "" "PIK3R2(NM_005027.3):c.56G>A (p.R19Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681339" "0" "30" "19" "18266816" "18266816" "subst" "3.33792E-5" "01943" "MAST3_000007" "g.18266816G>A" "" "" "" "PIK3R2(NM_005027.3):c.127G>A (p.V43M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681340" "0" "30" "19" "18277964" "18277964" "subst" "8.52239E-6" "01943" "PIK3R2_000038" "g.18277964C>G" "" "" "" "PIK3R2(NM_005027.3):c.1584C>G (p.L528=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692721" "0" "10" "19" "18266699" "18266699" "subst" "0.00238528" "02330" "PIK3R2_000004" "g.18266699C>T" "" "" "" "PIK3R2(NM_005027.3):c.10C>T (p.(Pro4Ser)), PIK3R2(NM_005027.4):c.10C>T (p.P4S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000692722" "0" "30" "19" "18272094" "18272094" "subst" "0" "01804" "PIK3R2_000039" "g.18272094G>A" "" "" "" "PIK3R2(NM_005027.2):c.604G>A (p.(Ala202Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692723" "0" "30" "19" "18272196" "18272196" "subst" "0.000231107" "02330" "PIK3R2_000011" "g.18272196G>A" "" "" "" "PIK3R2(NM_005027.3):c.706G>A (p.A236T), PIK3R2(NM_005027.4):c.706G>A (p.A236T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692724" "0" "50" "19" "18278055" "18278055" "subst" "0" "02325" "PIK3R2_000040" "g.18278055C>A" "" "" "" "PIK3R2(NM_005027.4):c.1675C>A (p.R559S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727213" "0" "50" "19" "18273878" "18273878" "subst" "0" "02329" "PIK3R2_000041" "g.18273878A>G" "" "" "" "PIK3R2(NM_005027.4):c.1211A>G (p.H404R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000787352" "0" "50" "19" "18271983" "18271983" "subst" "2.13776E-5" "00006" "PIK3R2_000042" "g.18271983C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs770193876" "0" "" "" "g.18161173C>T" "" "VUS" "" "0000808768" "0" "30" "19" "18266993" "18266993" "subst" "2.1845E-5" "01804" "MAST3_000010" "g.18266993G>A" "" "" "" "PIK3R2(NM_005027.2):c.304G>A (p.(Asp102Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808769" "0" "10" "19" "18279997" "18279997" "subst" "0.00279277" "02330" "IFI30_000003" "g.18279997C>T" "" "" "" "PIK3R2(NM_005027.4):c.2080C>T (p.L694=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000808770" "0" "50" "19" "18280082" "18280082" "subst" "0" "01943" "IFI30_000004" "g.18280082G>T" "" "" "" "PIK3R2(NM_005027.3):c.2165G>T (p.G722V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855490" "0" "30" "19" "18266929" "18266929" "subst" "9.96825E-5" "02330" "MAST3_000011" "g.18266929C>T" "" "" "" "PIK3R2(NM_005027.4):c.240C>T (p.P80=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855491" "0" "10" "19" "18279903" "18279903" "subst" "0.000311485" "02330" "PIK3R2_000045" "g.18279903C>T" "" "" "" "PIK3R2(NM_005027.4):c.1986C>T (p.D662=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000865961" "0" "50" "19" "18272212" "18272212" "subst" "0" "01943" "PIK3R2_000043" "g.18272212C>T" "" "" "" "PIK3R2(NM_005027.3):c.722C>T (p.P241L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865962" "0" "30" "19" "18279572" "18279572" "subst" "2.08018E-5" "02330" "PIK3R2_000044" "g.18279572G>T" "" "" "" "PIK3R2(NM_005027.4):c.1845G>T (p.P615=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865963" "0" "30" "19" "18280080" "18280080" "subst" "0.0261919" "01804" "PIK3R2_000046" "g.18280080C>T" "" "" "" "PIK3R2(NM_005027.2):c.2163C>T (p.(Pro721=)), PIK3R2(NM_005027.4):c.2163C>T (p.P721=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894874" "0" "30" "19" "18266793" "18266793" "subst" "8.42755E-5" "02325" "MAST3_000005" "g.18266793G>A" "" "" "" "PIK3R2(NM_005027.4):c.104G>A (p.R35Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894875" "0" "50" "19" "18273256" "18273256" "subst" "0" "02327" "PIK3R2_000047" "g.18273256G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915167" "0" "10" "19" "18278023" "18278023" "subst" "0.00137286" "02330" "PIK3R2_000016" "g.18278023C>T" "" "" "" "PIK3R2(NM_005027.3):c.1643C>T (p.A548V), PIK3R2(NM_005027.4):c.1643C>T (p.A548V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915168" "0" "10" "19" "18280080" "18280080" "subst" "0.0261919" "02330" "PIK3R2_000046" "g.18280080C>T" "" "" "" "PIK3R2(NM_005027.2):c.2163C>T (p.(Pro721=)), PIK3R2(NM_005027.4):c.2163C>T (p.P721=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926847" "0" "30" "19" "18280085" "18280085" "subst" "0.000300769" "02325" "PIK3R2_000031" "g.18280085C>T" "" "" "" "PIK3R2(NM_005027.3):c.2168C>T (p.P723L), PIK3R2(NM_005027.4):c.2168C>T (p.P723L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931024" "0" "50" "19" "18273935" "18273935" "subst" "0" "02325" "PIK3R2_000048" "g.18273935A>G" "" "" "" "PIK3R2(NM_005027.4):c.1268A>G (p.Y423C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969630" "0" "30" "19" "18260219" "18260219" "subst" "0.000734378" "02326" "MAST3_000013" "g.18260219C>T" "" "" "" "MAST3(NM_015016.2):c.3613C>T (p.L1205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983318" "0" "50" "19" "18260214" "18260214" "subst" "0" "01804" "MAST3_000016" "g.18260214C>T" "" "" "" "MAST3(NM_015016.2):c.3608C>T (p.(Ser1203Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983319" "0" "30" "19" "18279530" "18279530" "subst" "4.22615E-6" "01804" "PIK3R2_000049" "g.18279530C>T" "" "" "" "PIK3R2(NM_005027.4):c.1809-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983320" "0" "30" "19" "18279665" "18279665" "subst" "0.000636577" "01804" "PIK3R2_000020" "g.18279665C>T" "" "" "" "PIK3R2(NM_005027.3):c.1938C>T (p.I646=), PIK3R2(NM_005027.4):c.1938C>T (p.(Ile646=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004514" "0" "50" "19" "18266718" "18266718" "subst" "6.26104E-6" "01804" "MAST3_000018" "g.18266718G>A" "" "" "" "PIK3R2(NM_005027.3):c.29G>A (p.(Arg10His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004515" "0" "50" "19" "18266937" "18266937" "del" "8.41978E-6" "01804" "MAST3_000019" "g.18266937del" "" "" "" "PIK3R2(NM_005027.3):c.248delT (p.(Leu83fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004516" "0" "50" "19" "18266948" "18266952" "del" "0" "01804" "MAST3_000020" "g.18266948_18266952del" "" "" "" "PIK3R2(NM_005027.3):c.259_263delGGCCC (p.(Gly87fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004517" "0" "50" "19" "18266961" "18266961" "subst" "0" "02325" "MAST3_000021" "g.18266961G>A" "" "" "" "PIK3R2(NM_005027.4):c.272G>A (p.R91Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004518" "0" "50" "19" "18272299" "18272299" "subst" "0" "01804" "PIK3R2_000050" "g.18272299C>A" "" "" "" "PIK3R2(NM_005027.3):c.809C>A (p.(Pro270His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004519" "0" "50" "19" "18273859" "18273859" "subst" "2.03122E-5" "01804" "PIK3R2_000051" "g.18273859G>A" "" "" "" "PIK3R2(NM_005027.3):c.1192G>A (p.(Val398Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004521" "0" "50" "19" "18276981" "18276981" "subst" "7.7195E-5" "01804" "PIK3R2_000052" "g.18276981G>T" "" "" "" "PIK3R2(NM_005027.3):c.1428G>T (p.(Met476Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004522" "0" "50" "19" "18277007" "18277007" "subst" "3.24897E-5" "01804" "PIK3R2_000053" "g.18277007A>G" "" "" "" "PIK3R2(NM_005027.3):c.1454A>G (p.(Asn485Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004523" "0" "50" "19" "18280058" "18280068" "del" "0" "01804" "PIK3R2_000054" "g.18280058_18280068del" "" "" "" "PIK3R2(NM_005027.3):c.2141_2151delACCCAGTGCGC (p.(His714fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027195" "0" "50" "19" "18266849" "18266849" "subst" "0.00197931" "01943" "PIK3R2_000005" "g.18266849G>A" "" "" "" "PIK3R2(NM_005027.2):c.160G>A (p.(Val54Met)), PIK3R2(NM_005027.3):c.160G>A (p.V54M), PIK3R2(NM_005027.4):c.160G>A (p.V54M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027196" "0" "50" "19" "18278023" "18278023" "subst" "0.00137286" "01943" "PIK3R2_000016" "g.18278023C>T" "" "" "" "PIK3R2(NM_005027.3):c.1643C>T (p.A548V), PIK3R2(NM_005027.4):c.1643C>T (p.A548V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030045" "0" "90" "19" "18273784" "18273784" "subst" "0" "01164" "PIK3R2_000002" "g.18273784G>A" "" "" "" "" "This variant meets the criteria to be classified as Pathogenic for mosaic autosomal dominant overgrowth with or without cerebral malformations due to abnormalities in MTOR-pathway genes based on the ACMG/AMP criteria applied, as specified by the ClinGen Brain Malformations Expert Panel: PS4_VSTR, PS2_MOD, PM1_SUP, PM2_SUP" "De novo" "-" "" "" "" "" "g.18162974G>A" "VCV000039808.66" "pathogenic" "ACMG" "0001042796" "0" "30" "19" "18271854" "18271854" "subst" "0" "01804" "PIK3R2_000055" "g.18271854G>T" "" "" "" "PIK3R2(NM_005027.4):c.467-10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001048379" "0" "50" "19" "18273263" "18273263" "subst" "0" "03779" "PIK3R2_000056" "g.18273263C>G" "" "" "" "" "" "Unknown" "" "rs1568636630" "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 PIK3R2 ## Count = 100 "{{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}}" "0000061696" "00024151" "70" "1669" "0" "1669" "0" "c.1669G>C" "r.(?)" "p.(Asp557His)" "13" "0000086030" "00024151" "90" "1117" "0" "1117" "0" "c.1117G>A" "r.(?)" "p.(Gly373Arg)" "10" "0000117710" "00024151" "70" "1117" "0" "1117" "0" "c.1117G>A" "r.(?)" "p.(Gly373Arg)" "10" "0000128859" "00024151" "50" "1117" "0" "1117" "0" "c.1117G>A" "r.(?)" "p.(Gly373Arg)" "" "0000128860" "00024151" "50" "1126" "0" "1126" "0" "c.1126A>G" "r.(?)" "p.(Lys376Glu)" "" "0000132587" "00024151" "50" "1117" "0" "1117" "0" "c.1117G>A" "r.(?)" "p.(Gly373Arg)" "" "0000132588" "00024151" "50" "1126" "0" "1126" "0" "c.1126A>G" "r.(?)" "p.(Lys376Glu)" "" "0000247553" "00024151" "10" "700" "0" "700" "0" "c.700=" "r.(=)" "p.(Arg234=)" "" "0000253387" "00024151" "10" "700" "0" "700" "0" "c.700=" "r.(=)" "p.(Arg234=)" "" "0000291539" "00024151" "30" "-4304" "0" "-4304" "0" "c.-4304C>T" "r.(?)" "p.(=)" "" "0000293763" "00024151" "10" "160" "0" "160" "0" "c.160G>A" "r.(?)" "p.(Val54Met)" "" "0000293764" "00024151" "10" "1911" "0" "1911" "0" "c.1911T>C" "r.(?)" "p.(Ser637=)" "" "0000293765" "00024151" "30" "2115" "0" "2115" "0" "c.2115C>T" "r.(?)" "p.(Asn705=)" "" "0000293766" "00024151" "10" "2127" "0" "2127" "0" "c.2127C>T" "r.(?)" "p.(Thr709=)" "" "0000293767" "00024151" "10" "2179" "0" "2179" "0" "c.2179G>A" "r.(?)" "p.(Ala727Thr)" "" "0000293768" "00024151" "10" "903" "0" "903" "0" "c.903G>A" "r.(?)" "p.(Ala301=)" "" "0000293769" "00024151" "10" "937" "0" "937" "0" "c.937=" "r.(=)" "p.(Pro313=)" "" "0000296960" "00024151" "10" "1911" "0" "1911" "0" "c.1911T>C" "r.(?)" "p.(Ser637=)" "" "0000296961" "00024151" "10" "2127" "0" "2127" "0" "c.2127C>T" "r.(?)" "p.(Thr709=)" "" "0000296962" "00024151" "50" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Glu116Lys)" "" "0000296963" "00024151" "10" "937" "0" "937" "0" "c.937=" "r.(=)" "p.(Pro313=)" "" "0000300793" "00024151" "90" "1117" "0" "1117" "0" "c.1117G>A" "r.(?)" "p.(Gly373Arg)" "" "0000305631" "00024151" "30" "2193" "0" "2193" "0" "c.*6G>A" "r.(=)" "p.(=)" "" "0000305632" "00024151" "90" "1117" "0" "1117" "0" "c.1117G>A" "r.(?)" "p.(Gly373Arg)" "" "0000305633" "00024151" "10" "1560" "-17" "1560" "-17" "c.1560-17C>T" "r.(=)" "p.(=)" "" "0000305634" "00024151" "50" "1831" "0" "1831" "0" "c.1831G>A" "r.(?)" "p.(Glu611Lys)" "" "0000305635" "00024151" "10" "1911" "0" "1911" "0" "c.1911T>C" "r.(?)" "p.(Ser637=)" "" "0000305636" "00024151" "30" "1938" "0" "1938" "0" "c.1938C>T" "r.(?)" "p.(Ile646=)" "" "0000305637" "00024151" "10" "2127" "0" "2127" "0" "c.2127C>T" "r.(?)" "p.(Thr709=)" "" "0000305638" "00024151" "50" "2138" "0" "2138" "0" "c.2138C>T" "r.(?)" "p.(Ala713Val)" "" "0000305639" "00024151" "10" "2179" "0" "2179" "0" "c.2179G>A" "r.(?)" "p.(Ala727Thr)" "" "0000305640" "00024151" "50" "292" "0" "292" "0" "c.292G>A" "r.(?)" "p.(Ala98Thr)" "" "0000305642" "00024151" "50" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Pro151Ser)" "" "0000305643" "00024151" "50" "706" "0" "706" "0" "c.706G>A" "r.(?)" "p.(Ala236Thr)" "" "0000305644" "00024151" "30" "902" "-17" "902" "-17" "c.902-17G>A" "r.(=)" "p.(=)" "" "0000305645" "00024151" "10" "903" "0" "903" "0" "c.903G>A" "r.(?)" "p.(Ala301=)" "" "0000305646" "00024151" "10" "937" "0" "937" "0" "c.937=" "r.(=)" "p.(Pro313=)" "" "0000326340" "00024151" "50" "-4324" "0" "-4324" "0" "c.-4324C>T" "r.(?)" "p.(=)" "" "0000326341" "00024151" "50" "-4296" "0" "-4296" "0" "c.-4296C>T" "r.(?)" "p.(=)" "" "0000326342" "00024151" "30" "10" "0" "10" "0" "c.10C>T" "r.(?)" "p.(Pro4Ser)" "" "0000326343" "00024151" "30" "160" "0" "160" "0" "c.160G>A" "r.(?)" "p.(Val54Met)" "" "0000326347" "00024151" "50" "8090" "0" "8090" "0" "c.*5903C>T" "r.(=)" "p.(=)" "" "0000346036" "00024151" "90" "1117" "0" "1117" "0" "c.1117G>A" "r.(?)" "p.(Gly373Arg)" "" "0000347548" "00024151" "70" "1126" "0" "1126" "0" "c.1126A>G" "r.(?)" "p.(Lys376Glu)" "" "0000566613" "00024151" "30" "119" "0" "119" "0" "c.119C>T" "r.(?)" "p.(Ala40Val)" "" "0000566615" "00024151" "50" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Arg94His)" "" "0000566616" "00024151" "10" "415" "18" "415" "18" "c.415+18dup" "r.(=)" "p.(=)" "" "0000566617" "00024151" "10" "903" "0" "903" "0" "c.903G>A" "r.(?)" "p.(Ala301=)" "" "0000566618" "00024151" "30" "1044" "0" "1044" "0" "c.1044C>T" "r.(?)" "p.(Pro348=)" "" "0000566620" "00024151" "30" "1716" "0" "1716" "0" "c.1716G>T" "r.(?)" "p.(Lys572Asn)" "" "0000566621" "00024151" "30" "1809" "-7" "1809" "-7" "c.1809-7A>C" "r.(=)" "p.(=)" "" "0000566622" "00024151" "50" "2168" "0" "2168" "0" "c.2168C>T" "r.(?)" "p.(Pro723Leu)" "" "0000566623" "00024151" "10" "2179" "0" "2179" "0" "c.2179G>A" "r.(?)" "p.(Ala727Thr)" "" "0000566624" "00024151" "30" "7979" "0" "7979" "0" "c.*5792C>T" "r.(=)" "p.(=)" "" "0000617464" "00024151" "10" "415" "18" "415" "18" "c.415+18dup" "r.(=)" "p.(=)" "" "0000617465" "00024151" "30" "697" "0" "697" "0" "c.697G>T" "r.(?)" "p.(Ala233Ser)" "" "0000617466" "00024151" "30" "816" "-8" "816" "-8" "c.816-8C>T" "r.(=)" "p.(=)" "" "0000617467" "00024151" "30" "872" "0" "872" "0" "c.872A>G" "r.(?)" "p.(His291Arg)" "" "0000617468" "00024151" "30" "2127" "0" "2127" "0" "c.2127C>T" "r.(?)" "p.(Thr709=)" "" "0000681338" "00024151" "30" "56" "0" "56" "0" "c.56G>A" "r.(?)" "p.(Arg19Gln)" "" "0000681339" "00024151" "30" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Val43Met)" "" "0000681340" "00024151" "30" "1584" "0" "1584" "0" "c.1584C>G" "r.(?)" "p.(Leu528=)" "" "0000692721" "00024151" "10" "10" "0" "10" "0" "c.10C>T" "r.(?)" "p.(Pro4Ser)" "" "0000692722" "00024151" "30" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Ala202Thr)" "" "0000692723" "00024151" "30" "706" "0" "706" "0" "c.706G>A" "r.(?)" "p.(Ala236Thr)" "" "0000692724" "00024151" "50" "1675" "0" "1675" "0" "c.1675C>A" "r.(?)" "p.(Arg559Ser)" "" "0000727213" "00024151" "50" "1211" "0" "1211" "0" "c.1211A>G" "r.(?)" "p.(His404Arg)" "" "0000787352" "00024151" "50" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196Trp)" "5" "0000808768" "00024151" "30" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Asp102Asn)" "" "0000808769" "00024151" "10" "2080" "0" "2080" "0" "c.2080C>T" "r.(?)" "p.(Leu694=)" "" "0000808770" "00024151" "50" "2165" "0" "2165" "0" "c.2165G>T" "r.(?)" "p.(Gly722Val)" "" "0000855490" "00024151" "30" "240" "0" "240" "0" "c.240C>T" "r.(?)" "p.(Pro80=)" "" "0000855491" "00024151" "10" "1986" "0" "1986" "0" "c.1986C>T" "r.(?)" "p.(Asp662=)" "" "0000865961" "00024151" "50" "722" "0" "722" "0" "c.722C>T" "r.(?)" "p.(Pro241Leu)" "" "0000865962" "00024151" "30" "1845" "0" "1845" "0" "c.1845G>T" "r.(?)" "p.(Pro615=)" "" "0000865963" "00024151" "30" "2163" "0" "2163" "0" "c.2163C>T" "r.(?)" "p.(Pro721=)" "" "0000894874" "00024151" "30" "104" "0" "104" "0" "c.104G>A" "r.(?)" "p.(Arg35Gln)" "" "0000894875" "00024151" "50" "1049" "0" "1049" "0" "c.1049G>A" "r.(?)" "p.(Gly350Asp)" "" "0000915167" "00024151" "10" "1643" "0" "1643" "0" "c.1643C>T" "r.(?)" "p.(Ala548Val)" "" "0000915168" "00024151" "10" "2163" "0" "2163" "0" "c.2163C>T" "r.(?)" "p.(Pro721=)" "" "0000926847" "00024151" "30" "2168" "0" "2168" "0" "c.2168C>T" "r.(?)" "p.(Pro723Leu)" "" "0000931024" "00024151" "50" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(Tyr423Cys)" "" "0000969630" "00024151" "30" "-4309" "0" "-4309" "0" "c.-4309C>T" "r.(?)" "p.(=)" "" "0000983318" "00024151" "50" "-4314" "0" "-4314" "0" "c.-4314C>T" "r.(?)" "p.(=)" "" "0000983319" "00024151" "30" "1809" "-6" "1809" "-6" "c.1809-6C>T" "r.(=)" "p.(=)" "" "0000983320" "00024151" "30" "1938" "0" "1938" "0" "c.1938C>T" "r.(?)" "p.(Ile646=)" "" "0001004514" "00024151" "50" "29" "0" "29" "0" "c.29G>A" "r.(?)" "p.(Arg10His)" "" "0001004515" "00024151" "50" "248" "0" "248" "0" "c.248del" "r.(?)" "p.(Leu83Argfs*47)" "" "0001004516" "00024151" "50" "259" "0" "263" "0" "c.259_263del" "r.(?)" "p.(Gly87Serfs*14)" "" "0001004517" "00024151" "50" "272" "0" "272" "0" "c.272G>A" "r.(?)" "p.(Arg91Gln)" "" "0001004518" "00024151" "50" "809" "0" "809" "0" "c.809C>A" "r.(?)" "p.(Pro270His)" "" "0001004519" "00024151" "50" "1192" "0" "1192" "0" "c.1192G>A" "r.(?)" "p.(Val398Ile)" "" "0001004521" "00024151" "50" "1428" "0" "1428" "0" "c.1428G>T" "r.(?)" "p.(Met476Ile)" "" "0001004522" "00024151" "50" "1454" "0" "1454" "0" "c.1454A>G" "r.(?)" "p.(Asn485Ser)" "" "0001004523" "00024151" "50" "2141" "0" "2151" "0" "c.2141_2151del" "r.(?)" "p.(His714Argfs*93)" "" "0001027195" "00024151" "50" "160" "0" "160" "0" "c.160G>A" "r.(?)" "p.(Val54Met)" "" "0001027196" "00024151" "50" "1643" "0" "1643" "0" "c.1643C>T" "r.(?)" "p.(Ala548Val)" "" "0001030045" "00024151" "90" "1117" "0" "1117" "0" "c.1117G>A" "r.?" "p.(Gly373Arg)" "10" "0001042796" "00024151" "30" "467" "-10" "467" "-10" "c.467-10G>T" "r.(=)" "p.(=)" "" "0001048379" "00024151" "50" "1056" "0" "1056" "0" "c.1056C>G" "r.(?)" "p.(Phe352Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000034592" "0000061696" "0000056000" "0000086030" "0000073917" "0000117710" "0000079984" "0000128859" "0000079985" "0000128860" "0000081884" "0000132587" "0000081885" "0000132588" "0000376001" "0000787352" "0000466174" "0001030045"