### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PPP2R5C) # 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}}" "PPP2R5C" "protein phosphatase 2, regulatory subunit B\', gamma" "14" "q32.31" "unknown" "NC_000014.8" "UD_132465543443" "" "http://www.LOVD.nl/PPP2R5C" "" "1" "9311" "5527" "601645" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-03-01 09:59:11" "00006" "2025-04-14 16:12:39" ## 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}}" "00025983" "PPP2R5C" "transcript variant 8 (removed from reference sequence)" "000" "NM_001352913.1" "" "NP_001339842.1" "" "" "RefSeq select" "-96" "4460" "1740" "1" "1" "00006" "2025-03-01 09:48:12" "" "" ## 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}}" "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" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07162" "HJS" "Houge-Janssens syndrome" "AD" "" "" "" "" "00006" "2025-04-14 16:07:27" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PPP2R5C" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 28 "{{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}}" "00440389" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2763.1" "00464471" "" "" "" "1" "" "00006" "{PMID:Loveday 2015:25972378}, {PMID:Verbinnen 2025:39978342}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "COG0681;Pat2" "00465180" "" "" "" "2" "" "00006" "{PMID:Verbinnen 2025:39978342}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat36" "00465181" "" "" "" "1" "" "00006" "{PMID:Verbinnen 2025:39978342}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat9" "00465182" "" "" "" "1" "" "00006" "{PMID:Verbinnen 2025:39978342}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat32" "00465183" "" "" "" "1" "" "00006" "{PMID:Verbinnen 2025:39978342}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat21" "00465184" "" "" "" "1" "" "00006" "{PMID:Verbinnen 2025:39978342}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat1" "00465185" "" "" "" "1" "" "00006" "{PMID:Verbinnen 2025:39978342}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat6" "00465186" "" "" "" "1" "" "00006" "{PMID:Verbinnen 2025:39978342}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat8" "00465187" "" "" "" "1" "" "00006" "{PMID:Verbinnen 2025:39978342}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat5" "00465188" "" "" "" "1" "" "00006" "{PMID:Verbinnen 2025:39978342}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat35" "00465189" "" "" "" "1" "" "00006" "{PMID:Verbinnen 2025:39978342}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat18" "00465190" "" "" "" "1" "" "00006" "{PMID:Verbinnen 2025:39978342}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat19" "00465191" "" "" "" "1" "" "00006" "{PMID:Verbinnen 2025:39978342}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat11" "00465192" "" "" "" "1" "" "00006" "{PMID:Verbinnen 2025:39978342}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Pat29" "00465193" "" "" "" "1" "" "00006" "{PMID:Verbinnen 2025:39978342}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat12" "00465194" "" "" "" "1" "" "00006" "{PMID:Verbinnen 2025:39978342}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat7" "00465195" "" "" "" "1" "" "00006" "{PMID:Verbinnen 2025:39978342}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat26" "00465196" "" "" "" "1" "" "00006" "{PMID:Verbinnen 2025:39978342}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat16" "00465197" "" "" "" "1" "" "00006" "{PMID:Verbinnen 2025:39978342}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat28" "00465198" "" "" "" "1" "" "00006" "{PMID:Verbinnen 2025:39978342}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat10" "00465199" "" "" "" "1" "" "00006" "{PMID:Verbinnen 2025:39978342}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat30" "00465200" "" "" "" "1" "" "00006" "{PMID:Verbinnen 2025:39978342}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat14" "00465201" "" "" "" "2" "" "00006" "{PMID:Verbinnen 2025:39978342}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat25" "00465202" "" "" "" "1" "" "00006" "{PMID:Verbinnen 2025:39978342}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Pat37" "00465203" "" "" "" "1" "" "00006" "{PMID:Verbinnen 2025:39978342}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat22" "00465204" "" "" "" "1" "" "00006" "{PMID:Verbinnen 2025:39978342}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Pat3" "00465205" "" "" "" "1" "" "00006" "{PMID:Verbinnen 2025:39978342}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat23" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 28 "{{individualid}}" "{{diseaseid}}" "00440389" "00198" "00464471" "00509" "00465180" "07162" "00465181" "07162" "00465182" "07162" "00465183" "07162" "00465184" "07162" "00465185" "07162" "00465186" "07162" "00465187" "07162" "00465188" "07162" "00465189" "07162" "00465190" "07162" "00465191" "07162" "00465192" "07162" "00465193" "07162" "00465194" "07162" "00465195" "07162" "00465196" "07162" "00465197" "07162" "00465198" "07162" "00465199" "07162" "00465200" "07162" "00465201" "07162" "00465202" "07162" "00465203" "07162" "00465204" "07162" "00465205" "07162" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00509, 05611, 07162 ## Count = 28 "{{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}}" "0000330299" "00198" "00440389" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "PMID: 25972378, 26168268" "" "" "0000350506" "00509" "00464471" "00006" "Isolated (sporadic)" "9.3y" "see paper; ..., birth-37w, weight 3100g (0.8SD), OFC 36cm (2.4SD), floppy, poor neonatal feeding; 2y-febrile seizures; moderate intellectual disability; high arched palate, telecanthus, mild facial asymmetry; conductive hearing loss; 9.3y- height SD1.6, OFC SD3.3" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000350716" "07162" "00465180" "00006" "Isolated (sporadic)" "16y" "see paper; ..., mild neurodevelopmental delay; mild epilepsy; height normal, OFC SD+2.6; no hypotonia; no autism spectrum disorder; nystagmus; MRI brain normal" "" "" "" "" "" "" "" "" "" "Houge-Janssens syndrome" "" "0000350717" "07162" "00465181" "00006" "Isolated (sporadic)" "2y8m" "see paper; ..., mild neurodevelopmental delay; moderate epilepsy; height normal, OFC SD+2.2; no hypotonia; no facial dysmorphism; no autism spectrum disorder; normal eye vision; MRI brain normal" "" "" "" "" "" "" "" "" "" "Houge-Janssens syndrome" "" "0000350718" "07162" "00465182" "00006" "Isolated (sporadic)" "7y" "see paper; ..., moderate neurodevelopmental delay; severe epilepsy; heigth SD+2, OFC SD+5.4; hypotonia; no facial dysmorphism; autism spectrum disorder; normal eye vision; MRI brain large cisterna magna" "" "" "" "" "" "" "" "" "" "Houge-Janssens syndrome" "" "0000350719" "07162" "00465183" "00006" "Isolated (sporadic)" "29y" "see paper; ..., learning difficulties; no epilepsy; height normal, OFC SD+5.2; mild hypotonia; tall forehead, hypertelorism; no autism spectrum disorder; normal eye vision; MRI brain normal" "" "" "" "" "" "" "" "" "" "Houge-Janssens syndrome" "" "0000350720" "07162" "00465184" "00006" "Isolated (sporadic)" "2y2m" "see paper; ..., severe neurodevelopmental delay; moderate epilepsy; OFC normal; hypotonia; epicanthus; no autism spectrum disorder; normal eye vision; MRI brain normal" "" "" "" "" "" "" "" "" "" "Houge-Janssens syndrome" "" "0000350721" "07162" "00465185" "00006" "Isolated (sporadic)" "1y8m" "see paper; ..., severe neurodevelopmental delay; no epilepsy; height normal, OFC SD+3.6; neonatal jaundice; hypotonia; tall forehead, hypertelorism; no autism spectrum disorder; normal eye vision; MRI brain hyperintense white matter foci" "" "" "" "" "" "" "" "" "" "Houge-Janssens syndrome" "" "0000350722" "07162" "00465186" "00006" "Isolated (sporadic)" "11y" "see paper; ..., severe neurodevelopmental delay; moderate epilepsy; heigth SD-2, OFC SD+4.8; hypotonia; tall forehead; autism spectrum disorder; normal eye vision; MRI brain hyperintense white matter foci" "" "" "" "" "" "" "" "" "" "Houge-Janssens syndrome" "" "0000350723" "07162" "00465187" "00006" "Isolated (sporadic)" "10y" "see paper; ..., severe neurodevelopmental delay; moderate epilepsy; height normal, OFC SD+3.2; hypotonia; tall forehead, hypertelorism; autism spectrum disorder; normal eye vision; MRI brain normal" "" "" "" "" "" "" "" "" "" "Houge-Janssens syndrome" "" "0000350724" "07162" "00465188" "00006" "Isolated (sporadic)" "5y" "see paper; ..., mild neurodevelopmental delay; no epilepsy; height normal, OFC SD+4; mild hypotonia; no autism spectrum disorder; normal eye vision" "" "" "" "" "" "" "" "" "" "Houge-Janssens syndrome" "" "0000350725" "07162" "00465189" "00006" "Isolated (sporadic)" "3y" "see paper; ..., severe neurodevelopmental delay; moderate epilepsy; heigth SD-2, OFC SD+2.2; neonatal poor feeding; hypotonia; no autism spectrum disorder; strabismus; MRI brain mildly enlarged ventricles" "" "" "" "" "" "" "" "" "" "Houge-Janssens syndrome" "" "0000350726" "07162" "00465190" "00006" "Isolated (sporadic)" "17y" "see paper; ..., severe neurodevelopmental delay; severe epilepsy; height normal, OFC SD+6; neonatal poor feeding; hypotonia; no facial dysmorphism; no autism spectrum disorder; strabismus; MRI brain normal" "" "" "" "" "" "" "" "" "" "Houge-Janssens syndrome" "" "0000350727" "07162" "00465191" "00006" "Isolated (sporadic)" "14y" "see paper; ..., severe neurodevelopmental delay; severe epilepsy; height normal, OFC SD+4.4; neonatal lethargy; no hypotonia; no facial dysmorphism; autism spectrum disorder; normal eye vision; MRI brain abnormal sulcation" "" "" "" "" "" "" "" "" "" "Houge-Janssens syndrome" "" "0000350728" "07162" "00465192" "00006" "Unknown" "9y" "see paper; ..., moderate neurodevelopmental delay; severe epilepsy; height normal, OFC SD+3; neonatal jaundice; no hypotonia; no facial dysmorphism; no autism spectrum disorder; normal eye vision" "" "" "" "" "" "" "" "" "" "Houge-Janssens syndrome" "" "0000350729" "07162" "00465193" "00006" "Isolated (sporadic)" "4y2m" "see paper; ..., mild neurodevelopmental delay; no epilepsy; height normal, OFC SD+2.6; mild hypotonia; tall forehead; no autism spectrum disorder; normal eye vision; MRI brain slight corpus callosum hypoplasia" "" "" "" "" "" "" "" "" "" "Houge-Janssens syndrome" "" "0000350730" "07162" "00465194" "00006" "Isolated (sporadic)" "10y" "see paper; ..., severe neurodevelopmental delay; moderate epilepsy; height normal, OFC normal; neonatal poor feeding, jaundice; mild hypotonia; tall forehead; autism spectrum disorder; eye vision CVI; MRI brain hyperintense white matter foci" "" "" "" "" "" "" "" "" "" "Houge-Janssens syndrome" "" "0000350731" "07162" "00465195" "00006" "Isolated (sporadic)" "16y" "see paper; ..., severe neurodevelopmental delay; severe epilepsy; height normal, OFC normal; neonatal poor feeding; hypotonia; congenital pyloric stenosis; tall forehead, high palate; eye vision CVI; MRI brain mildly enlarged ventricles" "" "" "" "" "" "" "" "" "" "Houge-Janssens syndrome" "" "0000350732" "07162" "00465196" "00006" "Isolated (sporadic)" "10y" "see paper; ..., mild neurodevelopmental delay; severe epilepsy; height normal, OFC normal; neonatal poor feeding; mild hypotonia; tall forehead, high palate; no autism spectrum disorder; normal eye vision; MRI brain hippocampal sclerosis" "" "" "" "" "" "" "" "" "" "Houge-Janssens syndrome" "" "0000350733" "07162" "00465197" "00006" "Isolated (sporadic)" "6y" "see paper; ..., mild neurodevelopmental delay ax; no epilepsy; height normal, OFC SD+2; neonatal poor feeding; mild hypotonia; no facial dysmorphism; no autism spectrum disorder; normal eye vision; MRI brain normal" "" "" "" "" "" "" "" "" "" "Houge-Janssens syndrome" "" "0000350734" "07162" "00465198" "00006" "Isolated (sporadic)" "2y4m" "see paper; ..., mild neurodevelopmental delay; no epilepsy; height normal, OFC SD+2.4; mild hypotonia; congenital coloboma; no facial dysmorphism; no autism spectrum disorder; coloboma; MRI brain large corpus callosum" "" "" "" "" "" "" "" "" "" "Houge-Janssens syndrome" "" "0000350735" "07162" "00465199" "00006" "Isolated (sporadic)" "14y" "see paper; ..., mild neurodevelopmental delay; no epilepsy; height normal, OFC SD+3; neonatal nystagmus; mild hypotonia; tall forehead; no autism spectrum disorder; nystagmus, bilateral ptosis; MRI brain large corpus callosum" "" "" "" "" "" "" "" "" "" "Houge-Janssens syndrome" "" "0000350736" "07162" "00465200" "00006" "Isolated (sporadic)" "2y6m" "see paper; ..., mild neurodevelopmental delay; moderate epilepsy; height normal, OFC SD+2; hypotonia; tall forehead; no autism spectrum disorder; MRI brain normal" "" "" "" "" "" "" "" "" "" "Houge-Janssens syndrome" "" "0000350737" "07162" "00465201" "00006" "Isolated (sporadic)" "14y" "see paper; ..., mild neurodevelopmental delay; no epilepsy; height normal, OFC normal; mild hypotonia; congenital bilateral foot deformity; no autism spectrum disorder; normal eye vision; MRI brain normal" "" "" "" "" "" "" "" "" "" "Houge-Janssens syndrome" "" "0000350738" "07162" "00465202" "00006" "Unknown" "7y" "see paper; ..., mild neurodevelopmental delay; no epilepsy; height normal, OFC normal; no hypotonia; no congenital malformation; no autism spectrum disorder; normal eye vision" "" "" "" "" "" "" "" "" "" "Houge-Janssens syndrome" "" "0000350739" "07162" "00465203" "00006" "Isolated (sporadic)" "2y" "see paper; ..., learning difficulties; no epilepsy; heigth SD-2.7, OFC SD−2.8; neonatal poor feeding; hypotonia; epicanthus; no autism spectrum disorder; normal eye vision" "" "" "" "" "" "" "" "" "" "Houge-Janssens syndrome" "" "0000350740" "07162" "00465204" "00006" "Unknown" "" "see paper; ..., learning difficulties; no epilepsy; height normal, OFC normal; neonatal suspected drug exposure in utero; hypotonia; no congenital malformation; flat occiput; no autism spectrum disorder; normal eye vision; MRI brain normal" "" "" "" "" "" "" "" "" "" "Houge-Janssens syndrome" "" "0000350741" "07162" "00465205" "00006" "Isolated (sporadic)" "1y2m" "see paper; ..., mild neurodevelopmental delay; no epilepsy; height normal, OFC SD+4.9; hypotonia; congenital coloboma; no autism spectrum disorder; nystagmus; MRI brain normal" "" "" "" "" "" "" "" "" "" "Houge-Janssens syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 28 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000441874" "00440389" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000466109" "00464471" "1" "00006" "00006" "2025-03-18 15:45:47" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000466828" "00465180" "1" "00006" "00006" "2025-04-14 16:12:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000466829" "00465181" "1" "00006" "00006" "2025-04-14 16:12:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000466830" "00465182" "1" "00006" "00006" "2025-04-14 16:12:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000466831" "00465183" "1" "00006" "00006" "2025-04-14 16:12:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000466832" "00465184" "1" "00006" "00006" "2025-04-14 16:12:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000466833" "00465185" "1" "00006" "00006" "2025-04-14 16:12:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000466834" "00465186" "1" "00006" "00006" "2025-04-14 16:12:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000466835" "00465187" "1" "00006" "00006" "2025-04-14 16:12:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000466836" "00465188" "1" "00006" "00006" "2025-04-14 16:12:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000466837" "00465189" "1" "00006" "00006" "2025-04-14 16:12:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000466838" "00465190" "1" "00006" "00006" "2025-04-14 16:12:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000466839" "00465191" "1" "00006" "00006" "2025-04-14 16:12:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000466840" "00465192" "1" "00006" "00006" "2025-04-14 16:12:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000466841" "00465193" "1" "00006" "00006" "2025-04-14 16:12:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000466842" "00465194" "1" "00006" "00006" "2025-04-14 16:12:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000466843" "00465195" "1" "00006" "00006" "2025-04-14 16:12:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000466844" "00465196" "1" "00006" "00006" "2025-04-14 16:12:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000466845" "00465197" "1" "00006" "00006" "2025-04-14 16:12:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000466846" "00465198" "1" "00006" "00006" "2025-04-14 16:12:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000466847" "00465199" "1" "00006" "00006" "2025-04-14 16:12:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000466848" "00465200" "1" "00006" "00006" "2025-04-14 16:12:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000466849" "00465201" "1" "00006" "00006" "2025-04-14 16:12:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000466850" "00465202" "1" "00006" "00006" "2025-04-14 16:12:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000466851" "00465203" "1" "00006" "00006" "2025-04-14 16:12:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000466852" "00465204" "1" "00006" "00006" "2025-04-14 16:12:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000466853" "00465205" "1" "00006" "00006" "2025-04-14 16:12:37" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 35 "{{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}}" "0000306245" "0" "50" "14" "102349790" "102349790" "subst" "0" "01943" "PPP2R5C_000001" "g.102349790G>A" "" "" "" "PPP2R5C(NM_001161725.1):c.613G>A (p.E205K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101883453G>A" "" "VUS" "" "0000551163" "0" "30" "14" "102252364" "102252364" "subst" "0.00256369" "01804" "PPP2R5C_000002" "g.102252364G>A" "" "" "" "PPP2R5C(NM_001161726.1):c.103G>A (p.(Val35Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101786027G>A" "" "likely benign" "" "0000679863" "0" "50" "14" "102391479" "102391479" "subst" "4.51445E-5" "02325" "PPP2R5C_000004" "g.102391479C>G" "" "" "" "PPP2R5C(NM_001352913.2):c.1610C>G (p.A537G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101925142C>G" "" "VUS" "" "0000724590" "0" "50" "14" "102391506" "102391506" "subst" "0" "02325" "PPP2R5C_000005" "g.102391506C>T" "" "" "" "PPP2R5C(NM_001161725.2):c.1565C>T (p.P522L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101925169C>T" "" "VUS" "" "0000863426" "0" "10" "14" "102323093" "102323093" "subst" "0.0385046" "01804" "PPP2R5C_000006" "g.102323093T>C" "" "" "" "PPP2R5C(NM_001161725.1):c.258T>C (p.(Phe86=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101856756T>C" "" "benign" "" "0000863427" "0" "30" "14" "102348613" "102348613" "subst" "0.00544936" "01804" "PPP2R5C_000007" "g.102348613C>T" "" "" "" "PPP2R5C(NM_001161725.1):c.498+5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101882276C>T" "" "likely benign" "" "0000914120" "0" "50" "14" "102391518" "102391518" "subst" "0.000466391" "02325" "PPP2R5C_000008" "g.102391518G>T" "" "" "" "PPP2R5C(NM_001161725.2):c.1577G>T (p.R526L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101925181G>T" "" "VUS" "" "0000939816" "0" "70" "14" "102348567" "102348567" "subst" "0" "00006" "PPP2R5C_000009" "g.102348567G>A" "" "{PMID:Nambot 2018:29095811}" "" "" "" "De novo" "" "" "0" "" "" "g.101882230G>A" "" "likely pathogenic (dominant)" "" "0001029943" "0" "70" "14" "102348578" "102348580" "del" "0" "00006" "PPP2R5C_000017" "g.102348578_102348580del" "" "{PMID:Loveday 2015:25972378}, {PMID:Verbinnen 2025:39978342}" "" "NM_001161725:468_470delAAC" "" "De novo" "" "" "0" "" "" "g.101882241_101882243del" "" "likely pathogenic" "" "0001030808" "0" "90" "14" "102323073" "102323073" "subst" "0" "00006" "PPP2R5C_000018" "g.102323073T>C" "" "{PMID:Verbinnen 2025:39978342}" "" "NP_848702.1:p.Cys49Arg" "" "De novo" "" "" "0" "" "" "g.101856736T>C" "" "pathogenic (dominant)" "" "0001030809" "0" "90" "14" "102323089" "102323094" "del" "0" "00006" "PPP2R5C_000019" "g.102323089_102323094del" "" "{PMID:Verbinnen 2025:39978342}" "" "NP_848702.1:p.Asp54_Phe55del" "" "De novo" "" "" "0" "" "" "g.101856752_101856757del" "" "pathogenic (dominant)" "" "0001030810" "0" "90" "14" "102323093" "102323093" "subst" "0" "00006" "PPP2R5C_000020" "g.102323093T>A" "" "{PMID:Verbinnen 2025:39978342}" "" "NP_848702.1:p.Phe55Leu" "" "De novo" "" "" "0" "" "" "g.101856756T>A" "" "pathogenic (dominant)" "" "0001030811" "0" "90" "14" "102348562" "102348562" "subst" "0" "00006" "PPP2R5C_000021" "g.102348562C>G" "" "{PMID:Verbinnen 2025:39978342}" "" "NP_848702.1:p.Pro120Arg" "" "De novo" "" "" "0" "" "" "g.101882225C>G" "" "pathogenic (dominant)" "" "0001030812" "0" "90" "14" "102348567" "102348567" "subst" "0" "00006" "PPP2R5C_000009" "g.102348567G>A" "" "{PMID:Verbinnen 2025:39978342}" "" "NP_848702.1:p.Glu122Lys" "" "De novo" "" "" "0" "" "" "g.101882230G>A" "" "pathogenic (dominant)" "" "0001030813" "0" "90" "14" "102348567" "102348567" "subst" "0" "00006" "PPP2R5C_000009" "g.102348567G>A" "" "{PMID:Verbinnen 2025:39978342}" "" "NP_848702.1:p.Glu122Lys" "" "De novo" "" "" "0" "" "" "g.101882230G>A" "" "pathogenic (dominant)" "" "0001030814" "0" "90" "14" "102348567" "102348567" "subst" "0" "00006" "PPP2R5C_000009" "g.102348567G>A" "" "{PMID:Verbinnen 2025:39978342}" "" "NP_848702.1:p.Glu122Lys" "" "De novo" "" "" "0" "" "" "g.101882230G>A" "" "pathogenic (dominant)" "" "0001030815" "0" "90" "14" "102348567" "102348567" "subst" "0" "00006" "PPP2R5C_000009" "g.102348567G>A" "" "{PMID:Verbinnen 2025:39978342}" "" "NP_848702.1:p.Glu122Lys" "" "De novo" "" "" "0" "" "" "g.101882230G>A" "" "pathogenic (dominant)" "" "0001030816" "0" "90" "14" "102348573" "102348573" "subst" "0" "00006" "PPP2R5C_000022" "g.102348573G>A" "" "{PMID:Verbinnen 2025:39978342}" "" "NP_848702.1:p.Glu124Lys" "" "De novo" "" "" "0" "" "" "g.101882236G>A" "" "pathogenic (dominant)" "" "0001030817" "0" "90" "14" "102348590" "102348592" "del" "0" "00006" "PPP2R5C_000023" "g.102348590_102348592del" "" "{PMID:Verbinnen 2025:39978342}" "" "NP_848702.1:p.Ala130del" "" "De novo" "" "" "0" "" "" "g.101882253_101882255del" "" "pathogenic (dominant)" "" "0001030818" "0" "90" "14" "102348590" "102348592" "del" "0" "00006" "PPP2R5C_000023" "g.102348590_102348592del" "" "{PMID:Verbinnen 2025:39978342}" "" "NP_848702.1:p.Ala130del" "" "De novo" "" "" "0" "" "" "g.101882253_101882255del" "" "pathogenic (dominant)" "" "0001030819" "0" "90" "14" "102348594" "102348594" "subst" "0" "00006" "PPP2R5C_000024" "g.102348594T>C" "" "{PMID:Verbinnen 2025:39978342}" "" "NP_848702.1:p.Trp131Arg" "" "De novo" "" "" "0" "" "" "g.101882257T>C" "" "pathogenic (dominant)" "" "0001030820" "0" "90" "14" "102348594" "102348594" "subst" "0" "00006" "PPP2R5C_000024" "g.102348594T>C" "" "{PMID:Verbinnen 2025:39978342}" "" "NP_848702.1:p.Trp131Arg" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101882257T>C" "" "pathogenic (dominant)" "" "0001030821" "0" "90" "14" "102348601" "102348601" "subst" "0" "00006" "PPP2R5C_000025" "g.102348601A>G" "" "{PMID:Verbinnen 2025:39978342}" "" "NP_848702.1:p.His133Arg" "" "De novo" "" "" "0" "" "" "g.101882264A>G" "" "pathogenic (dominant)" "" "0001030822" "0" "90" "14" "102348601" "102348601" "subst" "0" "00006" "PPP2R5C_000025" "g.102348601A>G" "" "{PMID:Verbinnen 2025:39978342}" "" "NP_848702.1:p.His133Arg" "" "De novo" "" "" "0" "" "" "g.101882264A>G" "" "pathogenic (dominant)" "" "0001030823" "0" "90" "14" "102348601" "102348601" "subst" "0" "00006" "PPP2R5C_000026" "g.102348601A>C" "" "{PMID:Verbinnen 2025:39978342}" "" "NP_848702.1:p.His133Pro" "" "De novo" "" "" "0" "" "" "g.101882264A>C" "" "pathogenic (dominant)" "" "0001030824" "0" "90" "14" "102348601" "102348601" "subst" "0" "00006" "PPP2R5C_000026" "g.102348601A>C" "" "{PMID:Verbinnen 2025:39978342}" "" "NP_848702.1:p.His133Pro" "" "De novo" "" "" "0" "" "" "g.101882264A>C" "" "pathogenic (dominant)" "" "0001030825" "0" "90" "14" "102348601" "102348601" "subst" "0" "00006" "PPP2R5C_000027" "g.102348601A>T" "" "{PMID:Verbinnen 2025:39978342}" "" "NP_848702.1:p.His133Leu" "" "De novo" "" "" "0" "" "" "g.101882264A>T" "" "pathogenic (dominant)" "" "0001030826" "0" "90" "14" "102348604" "102348604" "subst" "0" "00006" "PPP2R5C_000028" "g.102348604T>C" "" "{PMID:Verbinnen 2025:39978342}" "" "NP_848702.1:p.Leu134Pro" "" "De novo" "" "" "0" "" "" "g.101882267T>C" "" "pathogenic (dominant)" "" "0001030827" "0" "90" "14" "102349790" "102349790" "subst" "0" "00006" "PPP2R5C_000001" "g.102349790G>A" "" "{PMID:Verbinnen 2025:39978342}" "" "NP_848702.1:p.Glu174Lys" "" "De novo" "" "" "0" "" "" "g.101883453G>A" "" "pathogenic (dominant)" "" "0001030828" "0" "90" "14" "102349794" "102349794" "subst" "0" "00006" "PPP2R5C_000029" "g.102349794A>T" "" "{PMID:Verbinnen 2025:39978342}" "" "NP_848702.1:p.Asp175Val" "" "De novo" "" "" "0" "" "" "g.101883457A>T" "" "pathogenic (dominant)" "" "0001030829" "0" "90" "14" "102349799" "102349799" "subst" "0" "00006" "PPP2R5C_000030" "g.102349799C>T" "" "{PMID:Verbinnen 2025:39978342}" "" "NP_848702.1:p.Arg177Trp" "" "De novo" "" "" "0" "" "" "g.101883462C>T" "" "pathogenic (dominant)" "" "0001030830" "0" "90" "14" "102349800" "102349800" "subst" "0" "00006" "PPP2R5C_000031" "g.102349800G>T" "" "{PMID:Verbinnen 2025:39978342}" "" "NP_848702.1:p.Arg177Leua" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101883463G>T" "" "pathogenic (dominant)" "" "0001030831" "0" "90" "14" "102359377" "102359377" "subst" "0" "00006" "PPP2R5C_000032" "g.102359377A>G" "" "{PMID:Verbinnen 2025:39978342}" "" "NP_848702.1:p.Lys244Glu" "" "De novo" "" "" "0" "" "" "g.101893040A>G" "" "pathogenic (dominant)" "" "0001030832" "0" "90" "14" "102368118" "102368118" "subst" "0" "00006" "PPP2R5C_000033" "g.102368118A>C" "" "{PMID:Verbinnen 2025:39978342}" "" "c.915A>C NP_848702.1:p.Leu305Phe" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.101901781A>C" "" "pathogenic (dominant)" "" "0001030833" "0" "90" "14" "102372745" "102372745" "subst" "0" "00006" "PPP2R5C_000034" "g.102372745G>A" "" "{PMID:Verbinnen 2025:39978342}" "" "NP_848702.1:p.Glu344Lys" "" "De novo" "" "" "0" "" "" "g.101906408G>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 PPP2R5C ## Count = 35 "{{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}}" "0000306245" "00025983" "50" "685" "0" "685" "0" "c.685G>A" "r.(?)" "p.(Glu229Lys)" "" "0000551163" "00025983" "30" "103" "0" "103" "0" "c.103G>A" "r.(?)" "p.(Val35Ile)" "" "0000679863" "00025983" "50" "1610" "0" "1610" "0" "c.1610C>G" "r.(?)" "p.(Ala537Gly)" "" "0000724590" "00025983" "50" "1637" "0" "1637" "0" "c.1637C>T" "r.(?)" "p.(Pro546Leu)" "" "0000863426" "00025983" "10" "330" "0" "330" "0" "c.330T>C" "r.(?)" "p.(Phe110=)" "" "0000863427" "00025983" "30" "570" "5" "570" "5" "c.570+5C>T" "r.spl?" "p.?" "" "0000914120" "00025983" "50" "1649" "0" "1649" "0" "c.1649G>T" "r.(?)" "p.(Arg550Leu)" "" "0000939816" "00025983" "70" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Glu177Lys)" "" "0001029943" "00025983" "70" "540" "0" "542" "0" "c.540_542del" "r.(540_542del)" "p.(Thr181del)" "" "0001030808" "00025983" "90" "310" "0" "310" "0" "c.310T>C" "r.(?)" "p.(Cys104Arg)" "" "0001030809" "00025983" "90" "326" "0" "331" "0" "c.326_331del" "r.(?)" "p.(Asp109_Phe110del)" "" "0001030810" "00025983" "90" "330" "0" "330" "0" "c.330T>A" "r.(?)" "p.(Phe110Leu)" "" "0001030811" "00025983" "90" "524" "0" "524" "0" "c.524C>G" "r.(?)" "p.(Pro175Arg)" "" "0001030812" "00025983" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Glu177Lys)" "" "0001030813" "00025983" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Glu177Lys)" "" "0001030814" "00025983" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Glu177Lys)" "" "0001030815" "00025983" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Glu177Lys)" "" "0001030816" "00025983" "90" "535" "0" "535" "0" "c.535G>A" "r.(?)" "p.(Glu179Lys)" "" "0001030817" "00025983" "90" "552" "0" "554" "0" "c.552_554del" "r.(?)" "p.(Ala185del)" "" "0001030818" "00025983" "90" "552" "0" "554" "0" "c.552_554del" "r.(?)" "p.(Ala185del)" "" "0001030819" "00025983" "90" "556" "0" "556" "0" "c.556T>C" "r.(?)" "p.(Trp186Arg)" "" "0001030820" "00025983" "90" "556" "0" "556" "0" "c.556T>C" "r.(?)" "p.(Trp186Arg)" "" "0001030821" "00025983" "90" "563" "0" "563" "0" "c.563A>G" "r.(?)" "p.(His188Arg)" "" "0001030822" "00025983" "90" "563" "0" "563" "0" "c.563A>G" "r.(?)" "p.(His188Arg)" "" "0001030823" "00025983" "90" "563" "0" "563" "0" "c.563A>C" "r.(?)" "p.(His188Pro)" "" "0001030824" "00025983" "90" "563" "0" "563" "0" "c.563A>C" "r.(?)" "p.(His188Pro)" "" "0001030825" "00025983" "90" "563" "0" "563" "0" "c.563A>T" "r.(?)" "p.(His188Leu)" "" "0001030826" "00025983" "90" "566" "0" "566" "0" "c.566T>C" "r.(?)" "p.(Leu189Pro)" "" "0001030827" "00025983" "90" "685" "0" "685" "0" "c.685G>A" "r.(?)" "p.(Glu229Lys)" "" "0001030828" "00025983" "90" "689" "0" "689" "0" "c.689A>T" "r.(?)" "p.(Asp230Val)" "" "0001030829" "00025983" "90" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Arg232Trp)" "" "0001030830" "00025983" "90" "695" "0" "695" "0" "c.695G>T" "r.(?)" "p.(Arg232Leu)" "" "0001030831" "00025983" "90" "895" "0" "895" "0" "c.895A>G" "r.(?)" "p.(Lys299Glu)" "" "0001030832" "00025983" "90" "1080" "0" "1080" "0" "c.1080A>C" "r.(?)" "p.(Leu360Phe)" "" "0001030833" "00025983" "90" "1195" "0" "1195" "0" "c.1195G>A" "r.(?)" "p.(Glu399Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 28 "{{screeningid}}" "{{variantid}}" "0000441874" "0000939816" "0000466109" "0001029943" "0000466828" "0001030808" "0000466829" "0001030809" "0000466830" "0001030810" "0000466831" "0001030811" "0000466832" "0001030812" "0000466833" "0001030813" "0000466834" "0001030814" "0000466835" "0001030815" "0000466836" "0001030816" "0000466837" "0001030817" "0000466838" "0001030818" "0000466839" "0001030819" "0000466840" "0001030820" "0000466841" "0001030821" "0000466842" "0001030822" "0000466843" "0001030823" "0000466844" "0001030824" "0000466845" "0001030825" "0000466846" "0001030826" "0000466847" "0001030827" "0000466848" "0001030828" "0000466849" "0001030829" "0000466850" "0001030830" "0000466851" "0001030831" "0000466852" "0001030832" "0000466853" "0001030833"