### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PPP2R5D) # 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}}" "PPP2R5D" "protein phosphatase 2, regulatory subunit B\', delta" "6" "p21.1" "unknown" "NG_050636.1" "UD_136072784483" "" "https://www.LOVD.nl/PPP2R5D" "" "1" "9312" "5528" "601646" "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/PPP2R5D_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-11-17 15:46:23" "00006" "2025-12-19 18:53:31" ## 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}}" "00016707" "PPP2R5D" "transcript variant 1" "002" "NM_006245.3" "" "NP_006236.1" "" "" "" "-179" "2868" "1809" "42952237" "42980083" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00108" "DYT" "dystonia (DYT)" "" "" "" "" "" "00054" "2013-01-24 21:46:00" "00006" "2018-04-03 21:21:00" "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" "00509" "OGS" "overgrowth syndrome" "" "" "" "" "" "00006" "2014-08-18 16:40:08" "00006" "2025-03-18 15:39:30" "04624" "HJS1;MRD35" "Houge-Janssens syndrome, type 1" "AD" "616355" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2025-03-18 15:52:48" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PPP2R5D" "04624" ## Individuals ## Do not remove or alter this header ## ## Count = 34 "{{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}}" "00019889" "" "" "" "1" "" "00705" "{PMID:Gilissen 2014:24896178}" "" "?" "?" "" "" "0" "" "" "" "" "00050375" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050506" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050643" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050675" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00080819" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00183068" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}" "" "M" "" "Netherlands" "" "0" "" "" "" "Trio72" "00306227" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "" "" "" "" "134" "00307963" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:28940097}" "simplex case" "F" "" "" "" "0" "" "" "" "15DG0837" "00319998" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00359336" "" "" "" "1" "" "01164" "" "" "F" "" "Hungary" "" "0" "" "" "" "163496" "00427978" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A029" "00440416" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2604.1" "00450288" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG1674" "00450289" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG1744" "00450290" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG0328" "00455845" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "F" "" "" "" "0" "" "" "" "Pat85" "00464343" "" "" "" "1" "" "04459" "" "" "" "" "" "" "" "" "" "" "" "00464344" "" "" "" "1" "" "04459" "" "" "" "" "" "" "" "" "" "" "" "00464472" "" "" "" "1" "" "00006" "{PMID:Loveday 2015:25972378}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "COG1744" "00464473" "" "" "" "1" "" "00006" "{PMID:Loveday 2015:25972378}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "COG1674" "00464474" "" "" "" "1" "" "00006" "{PMID:Loveday 2015:25972378}" "2-generation family, 1 affected, unaffected parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "COG0328" "00464582" "" "" "" "1" "" "00006" "{PMID:Houge 2015:26168268}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat1" "00464583" "" "" "" "1" "" "00006" "{PMID:Houge 2015:26168268}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat2" "00464584" "" "" "" "1" "" "00006" "{PMID:Houge 2015:26168268}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat3" "00464585" "" "" "" "1" "" "00006" "{PMID:Houge 2015:26168268}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat4" "00464586" "" "" "" "1" "" "00006" "{PMID:Houge 2015:26168268}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat5" "00464587" "" "" "" "1" "" "00006" "{PMID:Houge 2015:26168268}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat6" "00464588" "" "" "" "1" "" "00006" "{PMID:Houge 2015:26168268}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat7" "00464589" "" "" "" "1" "" "00006" "{PMID:Houge 2015:26168268}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat8" "00464590" "" "" "" "1" "" "00006" "{PMID:Houge 2015:26168268}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat9" "00464591" "" "" "" "1" "" "00006" "{PMID:Houge 2015:26168268}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat10" "00464592" "" "" "" "1" "" "00006" "{PMID:Houge 2015:26168268}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat11" "00471301" "" "" "" "1" "" "00006" "{PMID:Zech 2020:33098801}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "IS-DYS-402" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 34 "{{individualid}}" "{{diseaseid}}" "00019889" "00139" "00050375" "00198" "00050506" "00198" "00050643" "00198" "00050675" "00198" "00080819" "04624" "00183068" "00139" "00306227" "04624" "00307963" "00139" "00319998" "00198" "00359336" "04624" "00427978" "00198" "00440416" "00198" "00450288" "00198" "00450289" "00198" "00450290" "00198" "00455845" "00198" "00464343" "04624" "00464344" "04624" "00464472" "00509" "00464473" "00509" "00464474" "00509" "00464582" "00139" "00464583" "00139" "00464584" "00139" "00464585" "00139" "00464586" "00139" "00464587" "00139" "00464588" "00139" "00464589" "00139" "00464590" "00139" "00464591" "00139" "00464592" "00139" "00471301" "00108" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00108, 00139, 00198, 00509, 04624 ## Count = 33 "{{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}}" "0000017611" "00139" "00019889" "00705" "Isolated (sporadic)" "" "ID (dyshormonic profile; performal IQ 50, verbal 90), hypotonia, no facial dysmorphisms, progressive scoliosis, hip dysplasia, fatigue problems." "" "" "" "" "" "" "" "" "" "" "" "0000036987" "00198" "00050375" "00006" "Isolated (sporadic)" "" "severe intellectual disability, hydrocephalus, chronic diarrhea, hypoglycemia" "" "" "" "" "" "" "" "" "HJS1" "intellectual disability" "" "0000037118" "00198" "00050506" "00006" "Isolated (sporadic)" "" "global developmental delay, seizures, ventriculomegaly, narrow forehead, downslanted palpebral fissures, pyloric stenosis, narrow palate, generalized hypotonia, macrocephaly, ventriculomegaly" "" "" "" "" "" "" "" "" "HJS1" "" "" "0000037255" "00198" "00050643" "00006" "Isolated (sporadic)" "" "global developmental delay, congenital muscular torticollis, congenital hip dislocation" "" "" "" "" "" "" "" "" "HJS1" "" "" "0000037287" "00198" "00050675" "00006" "Isolated (sporadic)" "" "global developmental delay, deeply set eye, abnormality of vision, myopia, strabismus, generalized hypotonia" "" "" "" "" "" "" "" "" "HJS1" "" "" "0000060388" "04624" "00080819" "01758" "Isolated (sporadic)" "" "Mental retardation, autosomal dominant 35 (OMIM:616355)" "" "" "" "" "" "" "" "" "HJS1" "" "" "0000143821" "00139" "00183068" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability (ID)" "" "0000232075" "04624" "00306227" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "HJS1" "" "" "0000233386" "00139" "00307963" "00006" "Isolated (sporadic)" "1y11m" "see paper; ..., Global developmental delay, Seizures, Macrocephaly, Prominent forehead, Generalized hypotonia, Downslanted palpebral fissures, Epicanthus, Anteverted nares, Cafe-au-lait spot" "" "" "" "" "" "" "" "" "" "intellectual diability" "" "0000242043" "00198" "00319998" "01807" "Unknown" "" "Abnormally large globe (HP:0001090); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000254632" "04624" "00359336" "01164" "Unknown" "" "exaggerated startle response, abnormality of movement" "" "00y03m" "" "" "" "" "" "" "HJS1" "" "" "0000318924" "00198" "00427978" "00006" "Familial, autosomal dominant" "28y" "" "" "" "" "" "" "" "" "" "Mental retardation, autosomal dominant 35" "" "" "0000330326" "00198" "00440416" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Autosomal dominant mental retardation-35 (MIM #616355)" "" "" "0000339348" "00198" "00450288" "00006" "Isolated (sporadic)" "5y" "overgrowth head; moderate intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339349" "00198" "00450289" "00006" "Isolated (sporadic)" "3y" "overgrowth head, overgrowth height; moderate intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339350" "00198" "00450290" "00006" "Unknown" "39y" "overgrowth head, overgrowth height; mild intellectual disability;" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000344378" "00198" "00455845" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "HJS1" "neurogenetic diseases" "" "0000350382" "00183" "00464343" "04459" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000350507" "00509" "00464472" "00006" "Isolated (sporadic)" "00y03m" "see paper; ..., birth weight 4300g (1.5SD), length 57cm (3SD), OFC 38.5cm (2.6SD); poor neonatal feeding; hypospadias meatus at glandular-shaft junction; 9m-delayed developmental milestones, poor head control, limited interaction; 3m-height 66cm (2.3SD), OFC 45.7cm (3.6SD), weight 7.65kg (1.8SD); telecanthus, long palpebral fissures, pencilled eyebrows, broad, high forehead, plagiocephaly, deep palma/plantar creases; intellectual disability" "" "" "" "" "" "" "" "" "HJS1" "overgrowth" "" "0000350508" "00509" "00464473" "00006" "Isolated (sporadic)" "00y20m" "see paper; ..., birth-36w; 20m-macrocephaly (OFC 54.5cm, 3.8SD), heigh 79.5cm (-1.4SD), weight 12.85kg (1.2SD); moderate intellectual disability; no dysmorphism, broad, tall forehead" "" "" "" "" "" "" "" "" "HJS1" "overgrowth" "" "0000350509" "00509" "00464474" "00006" "Unknown" ">20y" "see paper; ..., birth at term, weight 3600g (0.4SD); hypotonia;delayed motor milestones, 15m-crawl, 2y-walk; 18m-OFC 52cm (3.4SD); 14y-height 173cm (2SD), OFC 60cm (3.8SD); mild intellectual disability; asymmetric resting tremor progressed to florid features of dopa responsive Parkinsonism" "" "" "" "" "" "" "" "" "HJS1" "overgrowth" "" "0000350568" "00139" "00464582" "00006" "Isolated (sporadic)" "53y" "see paper; ..., severe intellectual disability, severe developmental delay" "" "" "" "" "" "" "" "" "HJS1" "intellectual disability" "" "0000350569" "00139" "00464583" "00006" "Isolated (sporadic)" "5y" "see paper; ..., severe intellectual disability, severe developmental delay" "" "" "" "" "" "" "" "" "HJS1" "intellectual disability" "" "0000350570" "00139" "00464584" "00006" "Isolated (sporadic)" "11y" "see paper; ..., severe intellectual disability, severe developmental delay" "" "" "" "" "" "" "" "" "HJS1" "intellectual disability" "" "0000350571" "00139" "00464585" "00006" "Isolated (sporadic)" "10y" "see paper; ..., severe intellectual disability, severe developmental delay" "" "" "" "" "" "" "" "" "HJS1" "intellectual disability" "" "0000350572" "00139" "00464586" "00006" "Isolated (sporadic)" "15y" "see paper; ..., severe intellectual disability, severe developmental delay" "" "" "" "" "" "" "" "" "HJS1" "intellectual disability" "" "0000350573" "00139" "00464587" "00006" "Isolated (sporadic)" "13y" "see paper; ..., severe intellectual disability, severe developmental delay" "" "" "" "" "" "" "" "" "HJS1" "intellectual disability" "" "0000350574" "00139" "00464588" "00006" "Isolated (sporadic)" "2y" "see paper; ..., severe intellectual disability, severe developmental delay" "" "" "" "" "" "" "" "" "HJS1" "intellectual disability" "" "0000350575" "00139" "00464589" "00006" "Isolated (sporadic)" "20y" "see paper; ..., mild intellectual disability, mild developmental delay" "" "" "" "" "" "" "" "" "HJS1" "intellectual disability" "" "0000350576" "00139" "00464590" "00006" "Isolated (sporadic)" "4y" "see paper; ..., mild intellectual disability, mild developmental delay" "" "" "" "" "" "" "" "" "HJS1" "intellectual disability" "" "0000350577" "00139" "00464591" "00006" "Isolated (sporadic)" "3y" "see paper; ..., moderate intellectual disability, moderate developmental delay" "" "" "" "" "" "" "" "" "HJS1" "intellectual disability" "" "0000350578" "00139" "00464592" "00006" "Isolated (sporadic)" "9y" "see paper; ..., moderate intellectual disability, moderate developmental delay" "" "" "" "" "" "" "" "" "HJS1" "intellectual disability" "" "0000356138" "00108" "00471301" "00006" "Isolated (sporadic)" "" "isolated dystonia, coexisting non-movement disorder-related neurological symptoms; onset infancy (0-2y); generalized dystonia; no dystonic cerebral palsy" "" "" "" "" "" "" "" "" "MRD26" "dystonia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 34 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000019882" "00019889" "1" "00705" "00705" "2014-09-15 10:38:09" "00006" "2014-11-08 09:45:31" "SEQ" "DNA" "" "" "0000050320" "00050375" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050451" "00050506" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050588" "00050643" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050620" "00050675" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000080931" "00080819" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000184028" "00183068" "1" "00006" "00006" "2018-10-12 16:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000307360" "00306227" "1" "03695" "03695" "2020-07-11 10:39:52" "" "" "SEQ-NG" "DNA" "" "" "0000309107" "00307963" "1" "00006" "00006" "2020-08-23 13:31:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000321180" "00319998" "1" "01807" "01807" "2020-11-16 11:54:01" "" "" "SEQ" "DNA" "" "" "0000360577" "00359336" "1" "01164" "01164" "2021-03-19 14:34:38" "" "" "SEQ-NG-I" "DNA" "" "" "0000429391" "00427978" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood, peripheral blood mononuclear cells" "trio WES" "0000441901" "00440416" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000451884" "00450288" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451885" "00450289" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451886" "00450290" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000457461" "00455845" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000465973" "00464343" "1" "04459" "04459" "2025-03-06 06:51:36" "" "" "SEQ-NG" "DNA" "" "" "0000465974" "00464344" "1" "04459" "04459" "2025-03-06 06:59:45" "" "" "SEQ-NG" "DNA" "" "" "0000466110" "00464472" "1" "00006" "00006" "2025-03-18 16:03:21" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000466111" "00464473" "1" "00006" "00006" "2025-03-18 16:03:21" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000466112" "00464474" "1" "00006" "00006" "2025-03-18 16:03:21" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000466223" "00464582" "1" "00006" "00006" "2025-03-31 14:44:50" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000466224" "00464583" "1" "00006" "00006" "2025-03-31 14:44:50" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000466225" "00464584" "1" "00006" "00006" "2025-03-31 14:44:50" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000466226" "00464585" "1" "00006" "00006" "2025-03-31 14:44:50" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000466227" "00464586" "1" "00006" "00006" "2025-03-31 14:44:50" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000466228" "00464587" "1" "00006" "00006" "2025-03-31 14:44:50" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000466229" "00464588" "1" "00006" "00006" "2025-03-31 14:44:50" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000466230" "00464589" "1" "00006" "00006" "2025-03-31 14:44:50" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000466231" "00464590" "1" "00006" "00006" "2025-03-31 14:44:50" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000466232" "00464591" "1" "00006" "00006" "2025-03-31 14:44:50" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000466233" "00464592" "1" "00006" "00006" "2025-03-31 14:44:50" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000472971" "00471301" "1" "00006" "00006" "2025-12-19 18:53:19" "" "" "SEQ;SEQ-NG" "DNA" "" "solo WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000019882" "ELMO2" "0000019882" "PPP2R5D" "0000050320" "PPP2R5D" "0000050451" "PPP2R5D" "0000050588" "PPP2R5D" "0000050620" "PPP2R5D" "0000080931" "PPP2R5D" "0000307360" "PPP2R5D" "0000309107" "PPP2R5D" "0000360577" "PPP2R5D" "0000465973" "PPP2R5D" "0000465974" "PPP2R5D" ## 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 = 99 "{{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}}" "0000040349" "0" "90" "6" "42975030" "42975030" "subst" "0" "00705" "PPP2R5D_000001" "g.42975030T>A" "" "{PMID:Gilissen 2014:24896178}" "" "" "" "De novo" "" "" "0" "" "" "g.43007292T>A" "" "pathogenic" "" "0000079300" "0" "90" "6" "42975003" "42975003" "subst" "0" "00006" "PPP2R5D_000003" "g.42975003G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.43007265G>A" "" "pathogenic" "" "0000079431" "0" "90" "6" "42975003" "42975003" "subst" "0" "00006" "PPP2R5D_000003" "g.42975003G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.43007265G>A" "" "pathogenic" "" "0000079568" "0" "90" "6" "42975013" "42975013" "subst" "0" "00006" "MEA1_000002" "g.42975013C>G" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.43007275C>G" "" "pathogenic" "" "0000079600" "0" "90" "6" "42975003" "42975003" "subst" "0" "00006" "PPP2R5D_000003" "g.42975003G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.43007265G>A" "" "pathogenic" "" "0000130017" "0" "90" "6" "42975003" "42975003" "subst" "0" "01758" "PPP2R5D_000003" "g.42975003G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.43007265G>A" "" "pathogenic" "ACMG" "0000296920" "0" "10" "6" "42946490" "42946490" "subst" "0.376405" "02325" "PEX6_000146" "g.42946490C>A" "" "" "" "PEX6(NM_000287.4):c.399G>T (p.V133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42978752C>A" "" "benign" "" "0000296921" "0" "30" "6" "42946358" "42946358" "subst" "0" "02325" "PEX6_000144" "g.42946358T>G" "" "" "" "PEX6(NM_000287.3):c.531A>C (p.P177=), PEX6(NM_000287.4):c.531A>C (p.P177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42978620T>G" "" "likely benign" "" "0000296922" "0" "30" "6" "42946036" "42946036" "subst" "0.00152709" "02325" "PEX6_000142" "g.42946036G>C" "" "" "" "PEX6(NM_000287.3):c.853C>G (p.P285A), PEX6(NM_000287.4):c.853C>G (p.P285A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42978298G>C" "" "likely benign" "" "0000297289" "0" "90" "6" "42975009" "42975009" "subst" "0" "02325" "MEA1_000003" "g.42975009G>A" "" "" "" "PPP2R5D(NM_001270476.1):c.145G>A (p.E49K, p.(Glu49Lys)), PPP2R5D(NM_001270476.2):c.145G>A (p.E49K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43007271G>A" "" "pathogenic" "" "0000301152" "0" "90" "6" "42975030" "42975030" "subst" "0" "02326" "PPP2R5D_000001" "g.42975030T>A" "" "" "" "PPP2R5D(NM_001270476.2):c.166T>A (p.W56R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43007292T>A" "" "pathogenic" "" "0000301153" "0" "90" "6" "42975003" "42975003" "subst" "0" "02326" "PPP2R5D_000003" "g.42975003G>A" "" "" "" "PPP2R5D(NM_006245.3):c.592G>A (p.(Glu198Lys)), PPP2R5D(NM_006245.4):c.592G>A (p.E198K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43007265G>A" "" "pathogenic" "" "0000305500" "0" "30" "6" "42946482" "42946482" "subst" "2.35971E-5" "01943" "PEX6_000145" "g.42946482G>T" "" "" "" "PEX6(NM_000287.3):c.407C>A (p.P136Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42978744G>T" "" "likely benign" "" "0000305501" "0" "10" "6" "42946076" "42946076" "subst" "0.0013726" "01943" "PEX6_000143" "g.42946076C>A" "" "" "" "PEX6(NM_000287.3):c.813G>T (p.A271=), PEX6(NM_000287.4):c.813G>T (p.A271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42978338C>A" "" "benign" "" "0000306246" "0" "90" "6" "42975009" "42975009" "subst" "0" "01943" "MEA1_000003" "g.42975009G>A" "" "" "" "PPP2R5D(NM_001270476.1):c.145G>A (p.E49K, p.(Glu49Lys)), PPP2R5D(NM_001270476.2):c.145G>A (p.E49K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43007271G>A" "" "pathogenic" "" "0000345217" "0" "70" "6" "42975003" "42975003" "subst" "0" "02327" "PPP2R5D_000003" "g.42975003G>A" "" "" "" "PPP2R5D(NM_006245.3):c.592G>A (p.(Glu198Lys)), PPP2R5D(NM_006245.4):c.592G>A (p.E198K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43007265G>A" "" "likely pathogenic" "" "0000345407" "0" "70" "6" "42977066" "42977066" "subst" "0" "02327" "MEA1_000004" "g.42977066G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43009328G>A" "" "likely pathogenic" "" "0000407994" "0" "70" "6" "42974252" "42974252" "subst" "0" "00006" "PPP2R5D_000002" "g.42974252C>T" "" "{PMID:de Ligt 2012:23033978}" "" "NM_006245.2:c.157C>T (Pro53Ser)" "candidate variant" "De novo" "" "" "0" "" "" "g.43006514C>T" "" "likely pathogenic" "" "0000528882" "0" "50" "6" "42946036" "42946036" "subst" "0.00152709" "01943" "PEX6_000142" "g.42946036G>C" "" "" "" "PEX6(NM_000287.3):c.853C>G (p.P285A), PEX6(NM_000287.4):c.853C>G (p.P285A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42978298G>C" "" "VUS" "" "0000528885" "0" "30" "6" "42946864" "42946864" "subst" "0.000243706" "01943" "GNMT_000007" "g.42946864G>A" "" "" "" "PEX6(NM_000287.3):c.25C>T (p.L9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42979126G>A" "" "likely benign" "" "0000528886" "0" "90" "6" "42975009" "42975009" "subst" "0" "01804" "MEA1_000003" "g.42975009G>A" "" "" "" "PPP2R5D(NM_001270476.1):c.145G>A (p.E49K, p.(Glu49Lys)), PPP2R5D(NM_001270476.2):c.145G>A (p.E49K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43007271G>A" "" "pathogenic" "" "0000528887" "0" "90" "6" "42975009" "42975009" "subst" "0" "02327" "MEA1_000003" "g.42975009G>A" "" "" "" "PPP2R5D(NM_001270476.1):c.145G>A (p.E49K, p.(Glu49Lys)), PPP2R5D(NM_001270476.2):c.145G>A (p.E49K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43007271G>A" "" "pathogenic" "" "0000528888" "0" "90" "6" "42975013" "42975013" "subst" "0" "01943" "MEA1_000002" "g.42975013C>G" "" "" "" "PPP2R5D(NM_001270476.1):c.149C>G (p.P50R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43007275C>G" "" "pathogenic" "" "0000528890" "0" "50" "6" "42975224" "42975224" "subst" "4.06058E-6" "02325" "KLHDC3_000002" "g.42975224G>A" "" "" "" "PPP2R5D(NM_001270476.2):c.253G>A (p.D85N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43007486G>A" "" "VUS" "" "0000528891" "0" "50" "6" "42975694" "42975694" "subst" "0" "02327" "KLHDC3_000003" "g.42975694G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43007956G>A" "" "VUS" "" "0000528893" "0" "30" "6" "42980713" "42980715" "del" "0" "01804" "KLHDC3_000005" "g.42980713_42980715del" "" "" "" "MEA1(NM_001318942.1):c.320_322del (p.(Glu107del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43012975_43012977del" "" "likely benign" "" "0000528894" "0" "30" "6" "42981134" "42981134" "subst" "0" "01804" "KLHDC3_000006" "g.42981134G>T" "" "" "" "MEA1(NM_014623.2):c.29-7C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43013396G>T" "" "likely benign" "" "0000610354" "0" "90" "6" "42946073" "42946076" "dup" "0" "02327" "GNMT_000008" "g.42946073_42946076dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42978335_42978338dup" "" "pathogenic" "" "0000610355" "0" "50" "6" "42974387" "42974387" "subst" "8.1479E-6" "02327" "MEA1_000006" "g.42974387C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43006649C>T" "" "VUS" "" "0000610356" "0" "90" "6" "42975698" "42975698" "subst" "0" "02327" "KLHDC3_000007" "g.42975698A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43007960A>C" "" "pathogenic" "" "0000621710" "0" "30" "6" "42946358" "42946358" "subst" "0" "01943" "PEX6_000144" "g.42946358T>G" "" "" "" "PEX6(NM_000287.3):c.531A>C (p.P177=), PEX6(NM_000287.4):c.531A>C (p.P177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42978620T>G" "" "likely benign" "" "0000621711" "0" "50" "6" "42946587" "42946587" "subst" "0" "01943" "GNMT_000009" "g.42946587G>A" "" "" "" "PEX6(NM_000287.3):c.302C>T (p.P101L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42978849G>A" "" "VUS" "" "0000655594" "0" "50" "6" "42946587" "42946587" "subst" "0" "02325" "GNMT_000010" "g.42946587G>C" "" "" "" "PEX6(NM_000287.4):c.302C>G (p.(Pro101Arg), p.P101R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42978849G>C" "" "VUS" "" "0000655596" "0" "50" "6" "42975704" "42975704" "subst" "8.12117E-6" "02327" "KLHDC3_000009" "g.42975704G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43007966G>A" "" "VUS" "" "0000673987" "0" "90" "6" "42975009" "42975009" "subst" "0" "03695" "MEA1_000003" "g.42975009G>A" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000677780" "0" "50" "6" "42946149" "42946149" "subst" "6.49773E-5" "01943" "GNMT_000011" "g.42946149G>C" "" "" "" "PEX6(NM_000287.3):c.740C>G (p.P247R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677781" "0" "50" "6" "42975692" "42975692" "subst" "0" "02325" "KLHDC3_000010" "g.42975692G>C" "" "" "" "PPP2R5D(NM_006245.4):c.746G>C (p.S249T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000683570" "0" "70" "6" "42975003" "42975003" "subst" "0" "00006" "PPP2R5D_000003" "g.42975003G>A" "" "{PMID:Anazi 2017:28940097}" "" "NM_180977.2:c.274G>A" "ACMG PS2,PM2,PP3" "De novo" "" "" "0" "" "" "g.43007265G>A" "" "likely pathogenic (dominant)" "ACMG" "0000703984" "0" "70" "6" "42975043" "42975043" "subst" "0" "01807" "PPP2R5D_000005" "g.42975043A>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000720943" "0" "50" "6" "42946204" "42946204" "subst" "0.000418403" "02329" "GNMT_000005" "g.42946204T>C" "" "" "" "PEX6(NM_000287.3):c.685A>G (p.R229G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720944" "0" "30" "6" "42946559" "42946559" "subst" "0.00771688" "01943" "PEX6_000234" "g.42946559G>C" "" "" "" "PEX6(NM_000287.3):c.330C>G (p.T110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720945" "0" "70" "6" "42975043" "42975043" "subst" "0" "02329" "PPP2R5D_000005" "g.42975043A>C" "" "" "" "PPP2R5D(NM_001270476.2):c.179A>C (p.Q60P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000760616" "0" "90" "6" "42975003" "42975003" "subst" "0" "01164" "PPP2R5D_000003" "g.42975003G>A" "" "PMID: 25533962; PMID: 25972378; PMID: 26168268" "" "" "ACMG Class 5 (PS2, PS4_MOD, PS3_SUP, PM2, PP3)" "De novo" "?" "" "" "" "" "" "VCV000190286.15" "pathogenic (dominant)" "ACMG" "0000802600" "0" "90" "6" "42946489" "42946489" "del" "0" "01943" "PEX6_000023" "g.42946489del" "" "" "" "PEX6(NM_000287.3):c.402delC (p.G135Dfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000851236" "0" "30" "6" "42946499" "42946499" "subst" "0" "01943" "GNMT_000017" "g.42946499G>C" "" "" "" "PEX6(NM_000287.3):c.390C>G (p.T130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860356" "0" "50" "6" "42946235" "42946235" "subst" "4.06455E-6" "01943" "GNMT_000016" "g.42946235G>C" "" "" "" "PEX6(NM_000287.3):c.654C>G (p.F218L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887259" "0" "70" "6" "42975012" "42975012" "subst" "0" "02326" "KLHDC3_000011" "g.42975012C>A" "" "" "" "PPP2R5D(NM_006245.4):c.601C>A (p.P201T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000908864" "0" "70" "6" "42975694" "42975694" "subst" "0" "00006" "KLHDC3_000003" "g.42975694G>A" "" "{PMID:Bournazos 2022:34906502}" "" "" "transcripts cycloheximide insensitive" "Germline" "" "" "0" "" "" "g.43007956G>A" "" "likely pathogenic (dominant)" "" "0000929194" "0" "30" "6" "42957392" "42957392" "subst" "6.91479E-5" "02325" "MEA1_000007" "g.42957392C>T" "" "" "" "PPP2R5D(NM_006245.4):c.71C>T (p.S24L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000939843" "0" "90" "6" "42975003" "42975003" "subst" "0" "00006" "PPP2R5D_000003" "g.42975003G>A" "" "{PMID:Nambot 2018:29095811}" "" "" "" "De novo" "" "" "0" "" "" "g.43007265G>A" "" "pathogenic (dominant)" "" "0000948710" "0" "30" "6" "42946679" "42946679" "subst" "0.00610167" "01804" "PEX6_000235" "g.42946679C>T" "" "" "" "PEX6(NM_000287.3):c.210G>A (p.(Gly70=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977251" "0" "50" "6" "42946408" "42946408" "subst" "0" "01804" "GNMT_000022" "g.42946408G>A" "" "" "" "PEX6(NM_000287.4):c.481C>T (p.(Arg161Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977252" "0" "50" "6" "42946702" "42946702" "subst" "0" "01804" "GNMT_000023" "g.42946702C>T" "" "" "" "PEX6(NM_000287.4):c.187G>A (p.(Gly63Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977253" "0" "30" "6" "42975147" "42975147" "subst" "0" "01804" "KLHDC3_000012" "g.42975147T>C" "" "" "" "PPP2R5D(NM_006245.4):c.634-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977254" "0" "30" "6" "42975149" "42975149" "subst" "4.46664E-5" "01804" "KLHDC3_000013" "g.42975149T>C" "" "" "" "PPP2R5D(NM_006245.4):c.634-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977255" "0" "30" "6" "42976222" "42976222" "subst" "3.65761E-5" "01804" "KLHDC3_000014" "g.42976222C>T" "" "" "" "PPP2R5D(NM_006245.4):c.1026+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000985801" "0" "90" "6" "42975009" "42975009" "subst" "0" "00006" "MEA1_000003" "g.42975009G>A" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "De novo" "" "" "0" "" "" "g.43007271G>A" "" "pathogenic (dominant)" "" "0000985802" "0" "90" "6" "42975003" "42975003" "subst" "0" "00006" "PPP2R5D_000003" "g.42975003G>A" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "De novo" "" "" "0" "" "" "g.43007265G>A" "" "pathogenic (dominant)" "" "0000985803" "0" "90" "6" "42975009" "42975009" "subst" "0" "00006" "MEA1_000003" "g.42975009G>A" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.43007271G>A" "" "pathogenic (dominant)" "" "0000995768" "0" "70" "6" "42946751" "42946751" "del" "0" "01804" "GNMT_000024" "g.42946751del" "" "" "" "PEX6(NM_000287.3):c.140delC (p.(Pro47fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000995769" "0" "50" "6" "42974283" "42974283" "subst" "3.25516E-5" "01804" "MEA1_000008" "g.42974283C>T" "" "" "" "PPP2R5D(NM_006245.3):c.188C>T (p.(Thr63Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995770" "0" "90" "6" "42975003" "42975003" "subst" "0" "01804" "PPP2R5D_000003" "g.42975003G>A" "" "" "" "PPP2R5D(NM_006245.3):c.592G>A (p.(Glu198Lys)), PPP2R5D(NM_006245.4):c.592G>A (p.E198K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000995771" "0" "50" "6" "42975221" "42975221" "subst" "1.21819E-5" "01804" "KLHDC3_000015" "g.42975221A>G" "" "" "" "PPP2R5D(NM_006245.3):c.703A>G (p.(Ile235Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995772" "0" "50" "6" "42976889" "42976889" "subst" "0" "01804" "KLHDC3_000016" "g.42976889A>C" "" "" "" "PPP2R5D(NM_006245.3):c.1175A>C (p.(Glu392Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995773" "0" "30" "6" "42978652" "42978652" "subst" "7.32279E-5" "01804" "KLHDC3_000017" "g.42978652C>T" "" "" "" "PPP2R5D(NM_006245.3):c.1588C>T (p.(Pro530Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995774" "0" "50" "6" "42978901" "42978901" "subst" "0" "01804" "KLHDC3_000018" "g.42978901C>G" "" "" "" "PPP2R5D(NM_006245.3):c.1686C>G (p.(Ile562Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001011964" "0" "90" "6" "42975003" "42975003" "subst" "0" "00006" "PPP2R5D_000003" "g.42975003G>A" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Unknown" "" "" "0" "" "" "g.43007265G>A" "VCV000190286.8" "pathogenic" "" "0001014219" "0" "90" "6" "42946006" "42946006" "subst" "0" "02325" "PEX6_000056" "g.42946006C>T" "" "" "" "PEX6(NM_000287.4):c.882+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014220" "0" "30" "6" "42946076" "42946076" "subst" "0.0013726" "02330" "PEX6_000143" "g.42946076C>A" "" "" "" "PEX6(NM_000287.3):c.813G>T (p.A271=), PEX6(NM_000287.4):c.813G>T (p.A271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001029778" "1" "70" "6" "42975697" "42975697" "subst" "0" "04459" "PPP2R5D_000006" "g.42975697G>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.43007959G>C" "" "likely pathogenic (dominant)" "" "0001029779" "0" "90" "6" "42975003" "42975003" "subst" "0" "04459" "PPP2R5D_000003" "g.42975003G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.43007265G>A" "" "pathogenic (dominant)" "" "0001029944" "0" "90" "6" "42975003" "42975003" "subst" "0" "00006" "PPP2R5D_000003" "g.42975003G>A" "" "{PMID:Loveday 2015:25972378}" "" "" "" "De novo" "" "" "0" "" "" "g.43007265G>A" "" "pathogenic (dominant)" "" "0001029945" "0" "90" "6" "42975009" "42975009" "subst" "0" "00006" "MEA1_000003" "g.42975009G>A" "" "{PMID:Loveday 2015:25972378}" "" "" "" "De novo" "" "" "0" "" "" "g.43007271G>A" "" "pathogenic (dominant)" "" "0001029946" "0" "90" "6" "42975009" "42975009" "subst" "0" "00006" "MEA1_000003" "g.42975009G>A" "" "{PMID:Loveday 2015:25972378}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.43007271G>A" "" "pathogenic (dominant)" "" "0001030125" "0" "70" "6" "42974252" "42974252" "subst" "0" "00006" "PPP2R5D_000002" "g.42974252C>T" "" "{PMID:Houge 2015:26168268}" "" "" "" "De novo" "" "" "0" "" "" "g.43006514C>T" "" "likely pathogenic" "" "0001030126" "0" "70" "6" "42975003" "42975003" "subst" "0" "00006" "PPP2R5D_000003" "g.42975003G>A" "" "{PMID:Houge 2015:26168268}" "" "" "" "De novo" "" "" "0" "" "" "g.43007265G>A" "" "pathogenic (dominant)" "" "0001030127" "0" "70" "6" "42975003" "42975003" "subst" "0" "00006" "PPP2R5D_000003" "g.42975003G>A" "" "{PMID:Houge 2015:26168268}" "" "" "" "De novo" "" "" "0" "" "" "g.43007265G>A" "" "pathogenic (dominant)" "" "0001030128" "0" "90" "6" "42975003" "42975003" "subst" "0" "00006" "PPP2R5D_000003" "g.42975003G>A" "" "{PMID:Houge 2015:26168268}" "" "" "" "De novo" "" "" "0" "" "" "g.43007265G>A" "" "pathogenic (dominant)" "" "0001030129" "0" "90" "6" "42975003" "42975003" "subst" "0" "00006" "PPP2R5D_000003" "g.42975003G>A" "" "{PMID:Houge 2015:26168268}" "" "" "" "De novo" "" "" "0" "" "" "g.43007265G>A" "" "pathogenic (dominant)" "" "0001030130" "0" "90" "6" "42975003" "42975003" "subst" "0" "00006" "PPP2R5D_000003" "g.42975003G>A" "" "{PMID:Houge 2015:26168268}" "" "" "" "De novo" "" "" "0" "" "" "g.43007265G>A" "" "pathogenic (dominant)" "" "0001030131" "0" "90" "6" "42975003" "42975003" "subst" "0" "00006" "PPP2R5D_000003" "g.42975003G>A" "" "{PMID:Houge 2015:26168268}" "" "" "" "De novo" "" "" "0" "" "" "g.43007265G>A" "" "pathogenic (dominant)" "" "0001030132" "0" "90" "6" "42975009" "42975009" "subst" "0" "00006" "MEA1_000003" "g.42975009G>A" "" "{PMID:Houge 2015:26168268}" "" "" "" "De novo" "" "" "0" "" "" "g.43007271G>A" "" "pathogenic (dominant)" "" "0001030133" "0" "70" "6" "42975009" "42975009" "subst" "0" "00006" "MEA1_000003" "g.42975009G>A" "" "{PMID:Houge 2015:26168268}" "" "" "" "De novo" "" "" "0" "" "" "g.43007271G>A" "" "pathogenic (dominant)" "" "0001030134" "0" "70" "6" "42975013" "42975013" "subst" "0" "00006" "MEA1_000002" "g.42975013C>G" "" "{PMID:Houge 2015:26168268}" "" "" "" "De novo" "" "" "0" "" "" "g.43007275C>G" "" "likely pathogenic (dominant)" "" "0001030135" "0" "70" "6" "42975030" "42975030" "subst" "0" "00006" "PPP2R5D_000001" "g.42975030T>A" "" "{PMID:Houge 2015:26168268}" "" "" "" "De novo" "" "" "0" "" "" "g.43007292T>A" "" "likely pathogenic (dominant)" "" "0001035776" "0" "50" "6" "42946264" "42946264" "subst" "1.22187E-5" "01804" "GNMT_000025" "g.42946264G>A" "" "" "" "PEX6(NM_000287.4):c.625C>T (p.(Arg209Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035777" "0" "50" "6" "42946272" "42946272" "subst" "8.55732E-5" "01804" "GNMT_000026" "g.42946272C>T" "" "" "" "PEX6(NM_000287.4):c.617G>A (p.(Gly206Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035778" "0" "50" "6" "42946509" "42946509" "subst" "0" "02327" "GNMT_000027" "g.42946509C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035779" "0" "50" "6" "42946587" "42946587" "subst" "0" "01804" "GNMT_000010" "g.42946587G>C" "" "" "" "PEX6(NM_000287.4):c.302C>G (p.(Pro101Arg), p.P101R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035780" "0" "50" "6" "42946767" "42946767" "subst" "0" "01804" "GNMT_000028" "g.42946767C>T" "" "" "" "PEX6(NM_000287.4):c.122G>A (p.(Arg41Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035781" "0" "50" "6" "42974719" "42974719" "subst" "0" "01804" "MEA1_000009" "g.42974719C>T" "" "" "" "PPP2R5D(NM_006245.4):c.393C>T (p.(Phe131=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035782" "0" "30" "6" "42975254" "42975254" "subst" "1.62454E-5" "01804" "KLHDC3_000019" "g.42975254C>T" "" "" "" "PPP2R5D(NM_006245.4):c.726+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052352" "0" "50" "6" "42946019" "42946019" "subst" "3.24947E-5" "01804" "GNMT_000030" "g.42946019C>G" "" "" "" "PEX6(NM_000287.4):c.870G>C (p.(Glu290Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052353" "0" "30" "6" "42947258" "42947258" "subst" "0" "01804" "GNMT_000031" "g.42947258G>A" "" "" "" "PEX6(NM_000287.4):c.-370C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052354" "0" "30" "6" "42966826" "42966826" "subst" "0" "01804" "MEA1_000010" "g.42966826G>A" "" "" "" "PPP2R5D(NM_006245.4):c.106-7375G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052355" "0" "50" "6" "42974286" "42974286" "subst" "0" "01804" "MEA1_000011" "g.42974286C>T" "" "" "" "PPP2R5D(NM_006245.4):c.191C>T (p.(Pro64Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052356" "0" "50" "6" "42976202" "42976205" "del" "0" "01804" "KLHDC3_000020" "g.42976202_42976205del" "" "" "" "PPP2R5D(NM_006245.4):c.1015_1018del (p.(Tyr339Thrfs*18))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052357" "0" "50" "6" "42978406" "42978406" "subst" "4.06065E-6" "01804" "KLHDC3_000021" "g.42978406C>T" "" "" "" "PPP2R5D(NM_006245.4):c.1486C>T (p.(Arg496Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001061715" "0" "90" "6" "42975003" "42975003" "subst" "0" "00006" "PPP2R5D_000003" "g.42975003G>A" "" "{PMID:Zech 2020:33098801}" "" "" "" "De novo" "" "" "0" "" "" "g.43007265G>A" "" "pathogenic (dominant)" "" ## 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 PPP2R5D ## Count = 99 "{{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}}" "0000040349" "00016707" "90" "619" "0" "619" "0" "c.619T>A" "r.(?)" "p.(Trp207Arg)" "" "0000079300" "00016707" "00" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Glu198Lys)" "" "0000079431" "00016707" "00" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Glu198Lys)" "" "0000079568" "00016707" "00" "602" "0" "602" "0" "c.602C>G" "r.(?)" "p.(Pro201Arg)" "" "0000079600" "00016707" "00" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Glu198Lys)" "" "0000130017" "00016707" "90" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Glu198Lys)" "" "0000296920" "00016707" "10" "-5926" "0" "-5926" "0" "c.-5926C>A" "r.(?)" "p.(=)" "" "0000296921" "00016707" "30" "-6058" "0" "-6058" "0" "c.-6058T>G" "r.(?)" "p.(=)" "" "0000296922" "00016707" "30" "-6380" "0" "-6380" "0" "c.-6380G>C" "r.(?)" "p.(=)" "" "0000297289" "00016707" "90" "598" "0" "598" "0" "c.598G>A" "r.(?)" "p.(Glu200Lys)" "" "0000301152" "00016707" "90" "619" "0" "619" "0" "c.619T>A" "r.(?)" "p.(Trp207Arg)" "" "0000301153" "00016707" "90" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Glu198Lys)" "" "0000305500" "00016707" "30" "-5934" "0" "-5934" "0" "c.-5934G>T" "r.(?)" "p.(=)" "" "0000305501" "00016707" "10" "-6340" "0" "-6340" "0" "c.-6340C>A" "r.(?)" "p.(=)" "" "0000306246" "00016707" "90" "598" "0" "598" "0" "c.598G>A" "r.(?)" "p.(Glu200Lys)" "" "0000345217" "00016707" "70" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Glu198Lys)" "" "0000345407" "00016707" "70" "1258" "0" "1258" "0" "c.1258G>A" "r.(?)" "p.(Glu420Lys)" "" "0000407994" "00016707" "00" "157" "0" "157" "0" "c.157C>T" "r.(?)" "p.(Pro53Ser)" "" "0000528882" "00016707" "50" "-6380" "0" "-6380" "0" "c.-6380G>C" "r.(?)" "p.(=)" "" "0000528885" "00016707" "30" "-5552" "0" "-5552" "0" "c.-5552G>A" "r.(?)" "p.(=)" "" "0000528886" "00016707" "90" "598" "0" "598" "0" "c.598G>A" "r.(?)" "p.(Glu200Lys)" "" "0000528887" "00016707" "90" "598" "0" "598" "0" "c.598G>A" "r.(?)" "p.(Glu200Lys)" "" "0000528888" "00016707" "90" "602" "0" "602" "0" "c.602C>G" "r.(?)" "p.(Pro201Arg)" "" "0000528890" "00016707" "50" "706" "0" "706" "0" "c.706G>A" "r.(?)" "p.(Asp236Asn)" "" "0000528891" "00016707" "50" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Glu250Lys)" "" "0000528893" "00016707" "30" "3498" "0" "3500" "0" "c.*1689_*1691del" "r.(=)" "p.(=)" "" "0000528894" "00016707" "30" "3919" "0" "3919" "0" "c.*2110G>T" "r.(=)" "p.(=)" "" "0000610354" "00016707" "90" "-6343" "0" "-6340" "0" "c.-6343_-6340dup" "r.(?)" "p.(=)" "" "0000610355" "00016707" "50" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Trp)" "" "0000610356" "00016707" "90" "752" "0" "752" "0" "c.752A>C" "r.(?)" "p.(Asp251Ala)" "" "0000621710" "00016707" "30" "-6058" "0" "-6058" "0" "c.-6058T>G" "r.(?)" "p.(=)" "" "0000621711" "00016707" "50" "-5829" "0" "-5829" "0" "c.-5829G>A" "r.(?)" "p.(=)" "" "0000655594" "00016707" "50" "-5829" "0" "-5829" "0" "c.-5829G>C" "r.(?)" "p.(=)" "" "0000655596" "00016707" "50" "758" "0" "758" "0" "c.758G>A" "r.(?)" "p.(Arg253Gln)" "" "0000673987" "00016707" "90" "598" "0" "598" "0" "c.598G>A" "r.(?)" "p.(Glu200Lys)" "" "0000677780" "00016707" "50" "-6267" "0" "-6267" "0" "c.-6267G>C" "r.(?)" "p.(=)" "" "0000677781" "00016707" "50" "746" "0" "746" "0" "c.746G>C" "r.(?)" "p.(Ser249Thr)" "" "0000683570" "00016707" "70" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Glu198Lys)" "" "0000703984" "00016707" "70" "632" "0" "632" "0" "c.632A>C" "r.(?)" "p.(Gln211Pro)" "" "0000720943" "00016707" "50" "-6212" "0" "-6212" "0" "c.-6212T>C" "r.(?)" "p.(=)" "" "0000720944" "00016707" "30" "-5857" "0" "-5857" "0" "c.-5857G>C" "r.(?)" "p.(=)" "" "0000720945" "00016707" "70" "632" "0" "632" "0" "c.632A>C" "r.(?)" "p.(Gln211Pro)" "" "0000760616" "00016707" "90" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Glu198Lys)" "" "0000802600" "00016707" "90" "-5927" "0" "-5927" "0" "c.-5927del" "r.(?)" "p.(=)" "" "0000851236" "00016707" "30" "-5917" "0" "-5917" "0" "c.-5917G>C" "r.(?)" "p.(=)" "" "0000860356" "00016707" "50" "-6181" "0" "-6181" "0" "c.-6181G>C" "r.(?)" "p.(=)" "" "0000887259" "00016707" "70" "601" "0" "601" "0" "c.601C>A" "r.(?)" "p.(Pro201Thr)" "" "0000908864" "00016707" "70" "748" "0" "748" "0" "c.748G>A" "r.748g>a" "p.Glu250Lys" "" "0000929194" "00016707" "30" "71" "0" "71" "0" "c.71C>T" "r.(?)" "p.(Ser24Leu)" "" "0000939843" "00016707" "90" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Glu198Lys)" "5" "0000948710" "00016707" "30" "-5737" "0" "-5737" "0" "c.-5737C>T" "r.(?)" "p.(=)" "" "0000977251" "00016707" "50" "-6008" "0" "-6008" "0" "c.-6008G>A" "r.(?)" "p.(=)" "" "0000977252" "00016707" "50" "-5714" "0" "-5714" "0" "c.-5714C>T" "r.(?)" "p.(=)" "" "0000977253" "00016707" "30" "634" "-5" "634" "-5" "c.634-5T>C" "r.spl?" "p.?" "" "0000977254" "00016707" "30" "634" "-3" "634" "-3" "c.634-3T>C" "r.spl?" "p.?" "" "0000977255" "00016707" "30" "1026" "9" "1026" "9" "c.1026+9C>T" "r.(=)" "p.(=)" "" "0000985801" "00016707" "90" "598" "0" "598" "0" "c.598G>A" "r.(?)" "p.(Glu200Lys)" "" "0000985802" "00016707" "90" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Glu198Lys)" "" "0000985803" "00016707" "90" "598" "0" "598" "0" "c.598G>A" "r.(?)" "p.(Glu200Lys)" "" "0000995768" "00016707" "70" "-5665" "0" "-5665" "0" "c.-5665del" "r.(?)" "p.(=)" "" "0000995769" "00016707" "50" "188" "0" "188" "0" "c.188C>T" "r.(?)" "p.(Thr63Met)" "" "0000995770" "00016707" "90" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Glu198Lys)" "" "0000995771" "00016707" "50" "703" "0" "703" "0" "c.703A>G" "r.(?)" "p.(Ile235Val)" "" "0000995772" "00016707" "50" "1175" "0" "1175" "0" "c.1175A>C" "r.(?)" "p.(Glu392Ala)" "" "0000995773" "00016707" "30" "1588" "0" "1588" "0" "c.1588C>T" "r.(?)" "p.(Pro530Ser)" "" "0000995774" "00016707" "50" "1686" "0" "1686" "0" "c.1686C>G" "r.(?)" "p.(Ile562Met)" "" "0001011964" "00016707" "90" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Glu198Lys)" "" "0001014219" "00016707" "90" "-6410" "0" "-6410" "0" "c.-6410C>T" "r.(?)" "p.(=)" "" "0001014220" "00016707" "30" "-6340" "0" "-6340" "0" "c.-6340C>A" "r.(?)" "p.(=)" "" "0001029778" "00016707" "70" "751" "0" "751" "0" "c.751G>C" "r.(?)" "p.(Asp251His)" "" "0001029779" "00016707" "90" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Glu198Lys)" "" "0001029944" "00016707" "90" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Glu198Lys)" "" "0001029945" "00016707" "90" "598" "0" "598" "0" "c.598G>A" "r.(?)" "p.(Glu200Lys)" "" "0001029946" "00016707" "90" "598" "0" "598" "0" "c.598G>A" "r.(?)" "p.(Glu200Lys)" "" "0001030125" "00016707" "70" "157" "0" "157" "0" "c.157C>T" "r.(?)" "p.(Pro53Ser)" "" "0001030126" "00016707" "70" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Glu198Lys)" "" "0001030127" "00016707" "70" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Glu198Lys)" "" "0001030128" "00016707" "90" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Glu198Lys)" "" "0001030129" "00016707" "90" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Glu198Lys)" "" "0001030130" "00016707" "90" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Glu198Lys)" "" "0001030131" "00016707" "90" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Glu198Lys)" "" "0001030132" "00016707" "90" "598" "0" "598" "0" "c.598G>A" "r.(?)" "p.(Glu200Lys)" "" "0001030133" "00016707" "70" "598" "0" "598" "0" "c.598G>A" "r.(?)" "p.(Glu200Lys)" "" "0001030134" "00016707" "70" "602" "0" "602" "0" "c.602C>G" "r.(?)" "p.(Pro201Arg)" "" "0001030135" "00016707" "70" "619" "0" "619" "0" "c.619T>A" "r.(?)" "p.(Trp207Arg)" "" "0001035776" "00016707" "50" "-6152" "0" "-6152" "0" "c.-6152G>A" "r.(?)" "p.(=)" "" "0001035777" "00016707" "50" "-6144" "0" "-6144" "0" "c.-6144C>T" "r.(?)" "p.(=)" "" "0001035778" "00016707" "50" "-5907" "0" "-5907" "0" "c.-5907C>T" "r.(?)" "p.(=)" "" "0001035779" "00016707" "50" "-5829" "0" "-5829" "0" "c.-5829G>C" "r.(?)" "p.(=)" "" "0001035780" "00016707" "50" "-5649" "0" "-5649" "0" "c.-5649C>T" "r.(?)" "p.(=)" "" "0001035781" "00016707" "50" "393" "0" "393" "0" "c.393C>T" "r.(?)" "p.(=)" "" "0001035782" "00016707" "30" "726" "10" "726" "10" "c.726+10C>T" "r.(=)" "p.(=)" "" "0001052352" "00016707" "50" "-6397" "0" "-6397" "0" "c.-6397C>G" "r.(?)" "p.(=)" "" "0001052353" "00016707" "30" "-5158" "0" "-5158" "0" "c.-5158G>A" "r.(?)" "p.(=)" "" "0001052354" "00016707" "30" "106" "-7375" "106" "-7375" "c.106-7375G>A" "r.(=)" "p.(=)" "" "0001052355" "00016707" "50" "191" "0" "191" "0" "c.191C>T" "r.(?)" "p.(Pro64Leu)" "" "0001052356" "00016707" "50" "1015" "0" "1018" "0" "c.1015_1018del" "r.(?)" "p.(Tyr339Thrfs*18)" "" "0001052357" "00016707" "50" "1486" "0" "1486" "0" "c.1486C>T" "r.(?)" "p.(Arg496Trp)" "" "0001061715" "00016707" "90" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Glu198Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 34 "{{screeningid}}" "{{variantid}}" "0000019882" "0000040349" "0000050320" "0000079300" "0000050451" "0000079431" "0000050588" "0000079568" "0000050620" "0000079600" "0000080931" "0000130017" "0000184028" "0000407994" "0000307360" "0000673987" "0000309107" "0000683570" "0000321180" "0000703984" "0000360577" "0000760616" "0000429391" "0000908864" "0000441901" "0000939843" "0000451884" "0000985801" "0000451885" "0000985802" "0000451886" "0000985803" "0000457461" "0001011964" "0000465973" "0001029778" "0000465974" "0001029779" "0000466110" "0001029944" "0000466111" "0001029945" "0000466112" "0001029946" "0000466223" "0001030125" "0000466224" "0001030126" "0000466225" "0001030127" "0000466226" "0001030128" "0000466227" "0001030129" "0000466228" "0001030130" "0000466229" "0001030131" "0000466230" "0001030132" "0000466231" "0001030133" "0000466232" "0001030134" "0000466233" "0001030135" "0000472971" "0001061715"