### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PIP5K1C) # 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}}" "PIP5K1C" "phosphatidylinositol-4-phosphate 5-kinase, type I, gamma" "19" "p13.3" "unknown" "NC_000019.9" "UD_132118707144" "" "https://www.LOVD.nl/PIP5K1C" "" "1" "8996" "23396" "606102" "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/PIP5K1C_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2023-08-06 22:52:22" "00000" "2025-05-05 21:14:00" ## 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}}" "00001324" "PIP5K1C" "transcript variant 2" "002" "NM_012398.2" "" "NP_036530.1" "" "" "" "-89" "4993" "2007" "3630179" "3700477" "00000" "2012-09-13 13:26:38" "" "" ## 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}}" "00743" "LCCS3" "contracture syndrome, lethal, congenital, type 3 (LCCS-3)" "AR" "611369" "" "severe joint contractures, muscle atrophy, respiratory insufficiency" "" "00006" "2014-09-25 23:29:40" "00006" "2023-08-06 21:38:11" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07018" "LCCS" "contracture syndrome, lethal, congenital" "" "" "" "" "" "00006" "2023-08-06 22:40:22" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PIP5K1C" "00743" "PIP5K1C" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00104028" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-729A" "00104038" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-762A" "00435628" "" "" "" "1" "" "00006" "{PMID:Narkis 2007:17701898}" "5-generation family, 9 affected (6F, 3M)" "F;M" "yes" "Israel" "" "0" "" "" "Bedouin" "family" "00435629" "" "" "" "1" "" "00006" "{PMID:Morleo 2023:37451268}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Kazakhstan" "" "0" "" "" "" "Pat1" "00435630" "" "" "" "1" "" "00006" "{PMID:Morleo 2023:37451268}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "Romania" "" "0" "" "" "" "Pat2" "00435631" "" "" "" "1" "" "00006" "{PMID:Morleo 2023:37451268}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Pakistan" "" "0" "" "" "" "Pat3" "00435632" "" "" "" "1" "" "00006" "{PMID:Morleo 2023:37451268}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "United States" "" "0" "" "" "Europe-N;native American" "Pat4" "00435633" "" "" "" "1" "" "00006" "{PMID:Morleo 2023:37451268}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Netherlands" "" "0" "" "" "Europe-N;Asia" "Pat5" "00435634" "" "" "" "1" "" "00006" "{PMID:Morleo 2023:37451268}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Italy" "" "0" "" "" "" "Pat6" "00435635" "" "" "" "1" "" "00006" "{PMID:Morleo 2023:37451268}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "France" "" "0" "" "" "" "Pat7" "00435636" "" "" "" "1" "" "00006" "{PMID:Morleo 2023:37451268}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Italy" "" "0" "" "" "Europe" "Pat8" "00435637" "" "" "" "1" "" "00006" "{PMID:Morleo 2023:37451268}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Colombia" "" "0" "" "" "" "Pat9" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00104028" "03381" "00104038" "03381" "00435628" "07018" "00435629" "05611" "00435630" "05611" "00435631" "05611" "00435632" "05611" "00435633" "05611" "00435634" "05611" "00435635" "05611" "00435636" "05611" "00435637" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00743, 01157, 03381, 05611, 07018 ## Count = 13 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "0000081962" "03381" "00104028" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "0000081972" "03381" "00104038" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "0000325812" "07018" "00435628" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "LCCS3" "lethal congenital contracture syndrome" "" "0000325813" "05611" "00435629" "00006" "Isolated (sporadic)" "3y" "see paper; ..., motor delay, 5y-walk; no speech; intellectual disability; no seizures; mild optic atrophy; hypotonia; MRI brain abnormal lateral ventricles (contour), abnormal white matter signal, Chiari malformation type 1 (s/p repair); coronal synostosis, mildly tapered fingers, 5th finger clinodactyly; prominent maxilla/upper lip; no micrognathia; long ears" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000325814" "05611" "00435630" "00006" "Isolated (sporadic)" "6y" "see paper; ..., motor delay, 2y6m-walk; speech delay; intellectual disability; seizures; pale optic nerves, strabismus, myopia; no hypotonia; MRI brain abnormal white matter signal (delayed myelination), focal dysgyria, agenesis of anterior falx cerebri; mildly tapered fingers; prominent maxilla/upper lip; micrognathia; long ears" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000325815" "05611" "00435631" "00006" "Isolated (sporadic)" "10y" "see paper; ..., motor delay; no speech; intellectual disability; seizures; mild myopia; hypotonia; MRI brain abnormal white matter signal (hypomyelination); no; prominent maxilla/upper lip; micrognathia; long ears" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000325816" "05611" "00435632" "00006" "Isolated (sporadic)" "7y" "see paper; ..., motor delay, non-ambulant; no speech; intellectual disability; seizures, developmental and epileptic encephalopathy; cerebral visual impairment, strabismus, nystagmus ,myopia, astigmatism; hypotonia; MRI brain abnormal white matter signal (T2 prolongation), possible focal dysgyria, cerebral atrophy; prominent metopic ridge, mildly tapered fingers, coxa valga; prominent maxilla/upper lip; micrognathia; long ears" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000325817" "05611" "00435633" "00006" "Isolated (sporadic)" "7y" "see paper; ..., motor delay, 2y-walk; speech delay; intellectual disability; no seizures; probable cerebral visual impairment, mild hyperopia; no hypotonia; no; prominent maxilla/upper lip; micrognathia; no long ears" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000325818" "05611" "00435634" "00006" "Isolated (sporadic)" "7y" "see paper; ..., motor delay; no speech; intellectual disability; seizures; mild cerebral visual impairment, strabismus; no hypotonia; prominent metopic ridge, talipes equinovarus, prominent xyphoid process, short arms and hand; prominent maxilla/upper lip; micrognathia; long ears" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000325819" "05611" "00435635" "00006" "Isolated (sporadic)" "3y" "see paper; ..., motor delay, non-ambulant; no speech; intellectual disability; seizures, developmental and epileptic encephalopathy; strabismus, astigmatism; hypotonia; MRI brain abnormal lateral ventricles (microcysts in bilateral frontal horns); no; prominent maxilla/upper lip; no micrognathia; no long ears" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000325820" "05611" "00435636" "00006" "Isolated (sporadic)" "4y" "see paper; ..., motor delay, non-ambulant; no speech; intellectual disability; seizures, developmental and epileptic encephalopathy; no ophthalmologic abnormalities; hypotonia; MRI brain abnormal lateral ventricles (contour, septum pellucidum cyst), focal dysgyria, velum interpositium cyst, increased csf spaces at the temporal poles, flattening of corpus callosum; scoliosis, small feet; prominent maxilla/upper lip; no micrognathia; long ears" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000325821" "05611" "00435637" "00006" "Isolated (sporadic)" "15y" "see paper; ..., motor delay, non-ambulant; no speech; intellectual disability; seizures; strabismus; no hypotonia; MRI brain abnormal white matter (decreased volume in parietal lobes), possible focal dysgria, hypoplastic anterior temporal lobes, J-shaped sella; narrow fingers, distal camptodactyly, 5th finger clinodactyly, pes planus, bent 3rd toes; prominent maxilla/upper lip; micrognathia; no long ears" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000104499" "00104028" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000104509" "00104038" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000437109" "00435628" "1" "00006" "00006" "2023-08-06 22:46:18" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "" "0000437110" "00435629" "1" "00006" "00006" "2023-08-06 22:51:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437111" "00435630" "1" "00006" "00006" "2023-08-06 22:51:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437112" "00435631" "1" "00006" "00006" "2023-08-06 22:51:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437113" "00435632" "1" "00006" "00006" "2023-08-06 22:51:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437114" "00435633" "1" "00006" "00006" "2023-08-06 22:51:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437115" "00435634" "1" "00006" "00006" "2023-08-06 22:51:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437116" "00435635" "1" "00006" "00006" "2023-08-06 22:51:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437117" "00435636" "1" "00006" "00006" "2023-08-06 22:51:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000437118" "00435637" "1" "00006" "00006" "2023-08-06 22:51:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000437109" "PIP5K1C" ## 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}}" "0000005821" "3" "50" "19" "3643974" "3643974" "subst" "0" "00037" "PIP5K1C_000001" "g.3643974G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.3643976G>A" "" "VUS" "" "0000169391" "0" "70" "19" "3651837" "3651837" "subst" "1.64871E-5" "00587" "PIP5K1C_000002" "g.3651837C>T" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_001300849.1(PIP5K1C):c.1114G>A p.(Glu372Lys)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.3651839C>T" "" "likely pathogenic" "" "0000169436" "0" "70" "19" "3653307" "3653307" "subst" "4.20016E-6" "00587" "PIP5K1C_000003" "g.3653307G>A" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_001300849.1(PIP5K1C):c.902C>T p.(Thr301Met)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.3653309G>A" "" "likely pathogenic" "" "0000296981" "0" "10" "19" "3660944" "3660944" "subst" "0.571778" "02325" "PIP5K1C_000006" "g.3660944G>A" "" "" "" "PIP5K1C(NM_012398.3):c.468+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3660946G>A" "" "benign" "" "0000296982" "0" "10" "19" "3653525" "3653525" "subst" "0.568599" "02325" "PIP5K1C_000005" "g.3653525C>T" "" "" "" "PIP5K1C(NM_012398.3):c.684G>A (p.S228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3653527C>T" "" "benign" "" "0000300794" "0" "10" "19" "3645963" "3645963" "subst" "0.00145929" "02326" "PIP5K1C_000004" "g.3645963G>A" "" "" "" "PIP5K1C(NM_012398.3):c.1345+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3645965G>A" "" "benign" "" "0000567020" "0" "10" "19" "3633464" "3633464" "subst" "0.00298693" "02326" "PIP5K1C_000008" "g.3633464G>A" "" "" "" "PIP5K1C(NM_012398.3):c.1975C>T (p.(Pro659Ser), p.P659S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3633466G>A" "" "benign" "" "0000617556" "0" "30" "19" "3637485" "3637485" "subst" "0" "01943" "PIP5K1C_000014" "g.3637485C>T" "" "" "" "PIP5K1C(NM_001300849.1):c.2047G>A (p.G683R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3637487C>T" "" "likely benign" "" "0000617557" "0" "30" "19" "3638999" "3638999" "subst" "2.91111E-5" "01943" "PIP5K1C_000015" "g.3638999C>T" "" "" "" "PIP5K1C(NM_012398.2):c.1803G>A (p.P601=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3639001C>T" "" "likely benign" "" "0000617561" "0" "50" "19" "3651893" "3651893" "subst" "0" "01804" "PIP5K1C_000017" "g.3651893A>G" "" "" "" "PIP5K1C(NM_001195733.1):c.1058T>C (p.(Leu353Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3651895A>G" "" "VUS" "" "0000617565" "0" "30" "19" "3661916" "3661916" "subst" "0.0050036" "01943" "PIP5K1C_000018" "g.3661916G>A" "" "" "" "PIP5K1C(NM_012398.2):c.303C>T (p.D101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3661918G>A" "" "likely benign" "" "0000658550" "0" "50" "19" "3637592" "3637592" "subst" "0" "01943" "PIP5K1C_000019" "g.3637592C>T" "" "" "" "PIP5K1C(NM_001300849.1):c.1940G>A (p.W647*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3637594C>T" "" "VUS" "" "0000866049" "0" "30" "19" "3661985" "3661985" "subst" "0.000468795" "02326" "PIP5K1C_000020" "g.3661985G>A" "" "" "" "PIP5K1C(NM_012398.3):c.234C>T (p.T78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931876" "3" "90" "19" "3653452" "3653452" "subst" "0" "00006" "PIP5K1C_000021" "g.3653452C>T" "" "{PMID:Narkis 2007:17701898}" "" "G757A" "" "Germline" "yes" "" "0" "" "" "g.3653454C>T" "" "pathogenic (recessive)" "" "0000931877" "0" "90" "19" "3660996" "3660996" "subst" "0" "00006" "PIP5K1C_000024" "g.3660996C>T" "" "{PMID:Morleo 2023:37451268}" "" "" "" "De novo" "" "" "0" "" "" "g.3660998C>T" "" "pathogenic (dominant)" "" "0000931878" "0" "90" "19" "3656410" "3656410" "subst" "0" "00006" "PIP5K1C_000023" "g.3656410T>C" "" "{PMID:Morleo 2023:37451268}" "" "" "" "De novo" "" "" "0" "" "" "g.3656412T>C" "" "pathogenic (dominant)" "" "0000931879" "0" "90" "19" "3656410" "3656410" "subst" "0" "00006" "PIP5K1C_000023" "g.3656410T>C" "" "{PMID:Morleo 2023:37451268}" "" "" "" "De novo" "" "" "0" "" "" "g.3656412T>C" "" "pathogenic (dominant)" "" "0000931880" "0" "90" "19" "3653547" "3653547" "subst" "0" "00006" "PIP5K1C_000022" "g.3653547T>C" "" "{PMID:Morleo 2023:37451268}" "" "" "" "De novo" "" "" "0" "" "" "g.3653549T>C" "" "pathogenic (dominant)" "" "0000931881" "0" "90" "19" "3653547" "3653547" "subst" "0" "00006" "PIP5K1C_000022" "g.3653547T>C" "" "{PMID:Morleo 2023:37451268}" "" "" "somatic mosaicism" "Somatic" "" "" "0" "" "" "g.3653549T>C" "" "pathogenic (dominant)" "" "0000931882" "0" "90" "19" "3653547" "3653547" "subst" "0" "00006" "PIP5K1C_000022" "g.3653547T>C" "" "{PMID:Morleo 2023:37451268}" "" "" "" "De novo" "" "" "0" "" "" "g.3653549T>C" "" "pathogenic (dominant)" "" "0000931883" "0" "90" "19" "3653547" "3653547" "subst" "0" "00006" "PIP5K1C_000022" "g.3653547T>C" "" "{PMID:Morleo 2023:37451268}" "" "" "" "De novo" "" "" "0" "" "" "g.3653549T>C" "" "pathogenic (dominant)" "" "0000931884" "0" "90" "19" "3653547" "3653547" "subst" "0" "00006" "PIP5K1C_000022" "g.3653547T>C" "" "{PMID:Morleo 2023:37451268}" "" "" "" "De novo" "" "" "0" "" "" "g.3653549T>C" "" "pathogenic (dominant)" "" "0000931885" "0" "90" "19" "3653547" "3653547" "subst" "0" "00006" "PIP5K1C_000022" "g.3653547T>C" "" "{PMID:Morleo 2023:37451268}" "" "" "" "De novo" "" "" "0" "" "" "g.3653549T>C" "" "pathogenic (dominant)" "" "0000983402" "0" "30" "19" "3637614" "3637614" "subst" "0" "01804" "PIP5K1C_000026" "g.3637614G>A" "" "" "" "PIP5K1C(NM_001300849.2):c.1921-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983405" "0" "50" "19" "3653524" "3653525" "del" "0" "01804" "PIP5K1C_000027" "g.3653524_3653525del" "" "" "" "PIP5K1C(NM_012398.3):c.688_689del (p.(Gly230GlnfsTer114))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004667" "0" "50" "19" "3633440" "3633440" "subst" "0" "01804" "PIP5K1C_000028" "g.3633440C>T" "" "" "" "PIP5K1C(NM_012398.2):c.1999G>A (p.(Asp667Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015788" "0" "50" "19" "3643278" "3643278" "subst" "8.13365E-6" "02326" "PIP5K1C_000029" "g.3643278G>A" "" "" "" "PIP5K1C(NM_012398.3):c.1612C>T (p.R538W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042879" "0" "30" "19" "3633174" "3633174" "subst" "0.000347365" "01804" "PIP5K1C_000030" "g.3633174G>A" "" "" "" "PIP5K1C(NM_012398.3):c.2005-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042881" "0" "10" "19" "3633464" "3633464" "subst" "0.00298693" "01804" "PIP5K1C_000008" "g.3633464G>A" "" "" "" "PIP5K1C(NM_012398.3):c.1975C>T (p.(Pro659Ser), p.P659S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001042885" "0" "30" "19" "3637452" "3637452" "subst" "0" "01804" "PIP5K1C_000031" "g.3637452C>G" "" "" "" "PIP5K1C(NM_001300849.2):c.2080G>C (p.(Ala694Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042886" "0" "50" "19" "3637533" "3637533" "subst" "0" "01804" "PIP5K1C_000032" "g.3637533C>G" "" "" "" "PIP5K1C(NM_001300849.2):c.1999G>C (p.(Val667Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042887" "0" "50" "19" "3637551" "3637551" "subst" "0" "01804" "PIP5K1C_000033" "g.3637551G>C" "" "" "" "PIP5K1C(NM_001300849.2):c.1981C>G (p.(Leu661Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042890" "0" "30" "19" "3645964" "3645964" "subst" "4.47125E-5" "01804" "PIP5K1C_000034" "g.3645964T>C" "" "" "" "PIP5K1C(NM_012398.3):c.1345+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042891" "0" "50" "19" "3651960" "3651960" "subst" "0.00082799" "01804" "PIP5K1C_000035" "g.3651960G>A" "" "" "" "PIP5K1C(NM_012398.3):c.991C>T (p.(Arg331Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042895" "0" "30" "19" "3662007" "3662007" "subst" "0" "01804" "PIP5K1C_000036" "g.3662007G>T" "" "" "" "PIP5K1C(NM_012398.3):c.220-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 PIP5K1C ## 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}}" "0000005821" "00001324" "50" "1510" "111" "1510" "111" "c.1510+111C>T" "r.(=)" "p.(=)" "" "0000169391" "00001324" "00" "1114" "0" "1114" "0" "c.1114G>A" "r.(?)" "p.(Glu372Lys)" "" "0000169436" "00001324" "00" "902" "0" "902" "0" "c.902C>T" "r.(?)" "p.(Thr301Met)" "" "0000296981" "00001324" "10" "468" "20" "468" "20" "c.468+20C>T" "r.(=)" "p.(=)" "" "0000296982" "00001324" "10" "684" "0" "684" "0" "c.684G>A" "r.(?)" "p.(Ser228=)" "" "0000300794" "00001324" "10" "1345" "9" "1345" "9" "c.1345+9C>T" "r.(=)" "p.(=)" "" "0000567020" "00001324" "10" "1975" "0" "1975" "0" "c.1975C>T" "r.(?)" "p.(Pro659Ser)" "" "0000617556" "00001324" "30" "1920" "1397" "1920" "1397" "c.1920+1397G>A" "r.(=)" "p.(=)" "" "0000617557" "00001324" "30" "1803" "0" "1803" "0" "c.1803G>A" "r.(?)" "p.(Pro601=)" "" "0000617561" "00001324" "50" "1058" "0" "1058" "0" "c.1058T>C" "r.(?)" "p.(Leu353Pro)" "" "0000617565" "00001324" "30" "303" "0" "303" "0" "c.303C>T" "r.(?)" "p.(Asp101=)" "" "0000658550" "00001324" "50" "1920" "1290" "1920" "1290" "c.1920+1290G>A" "r.(=)" "p.(=)" "" "0000866049" "00001324" "30" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(Thr78=)" "" "0000931876" "00001324" "90" "757" "0" "757" "0" "c.757G>A" "r.(?)" "p.(Asp253Asn)" "" "0000931877" "00001324" "90" "436" "0" "436" "0" "c.436G>A" "r.(?)" "p.(Glu146Lys)" "" "0000931878" "00001324" "90" "614" "0" "614" "0" "c.614A>G" "r.(?)" "p.(Tyr205Cys)" "" "0000931879" "00001324" "90" "614" "0" "614" "0" "c.614A>G" "r.(?)" "p.(Tyr205Cys)" "" "0000931880" "00001324" "90" "662" "0" "662" "0" "c.662A>G" "r.(?)" "p.(Tyr221Cys)" "" "0000931881" "00001324" "90" "662" "0" "662" "0" "c.662A>G" "r.(?)" "p.(Tyr221Cys)" "" "0000931882" "00001324" "90" "662" "0" "662" "0" "c.662A>G" "r.(?)" "p.(Tyr221Cys)" "" "0000931883" "00001324" "90" "662" "0" "662" "0" "c.662A>G" "r.(?)" "p.(Tyr221Cys)" "" "0000931884" "00001324" "90" "662" "0" "662" "0" "c.662A>G" "r.(?)" "p.(Tyr221Cys)" "" "0000931885" "00001324" "90" "662" "0" "662" "0" "c.662A>G" "r.(?)" "p.(Tyr221Cys)" "" "0000983402" "00001324" "30" "1920" "1268" "1920" "1268" "c.1920+1268C>T" "r.(=)" "p.(=)" "" "0000983405" "00001324" "50" "688" "0" "689" "0" "c.688_689del" "r.(?)" "p.(Gly230Glnfs*114)" "" "0001004667" "00001324" "50" "1999" "0" "1999" "0" "c.1999G>A" "r.(?)" "p.(Asp667Asn)" "" "0001015788" "00001324" "50" "1612" "0" "1612" "0" "c.1612C>T" "r.(?)" "p.(Arg538Trp)" "" "0001042879" "00001324" "30" "2005" "-7" "2005" "-7" "c.2005-7C>T" "r.(=)" "p.(=)" "" "0001042881" "00001324" "10" "1975" "0" "1975" "0" "c.1975C>T" "r.(?)" "p.(Pro659Ser)" "" "0001042885" "00001324" "30" "1920" "1430" "1920" "1430" "c.1920+1430G>C" "r.(=)" "p.(=)" "" "0001042886" "00001324" "50" "1920" "1349" "1920" "1349" "c.1920+1349G>C" "r.(=)" "p.(=)" "" "0001042887" "00001324" "50" "1920" "1331" "1920" "1331" "c.1920+1331C>G" "r.(=)" "p.(=)" "" "0001042890" "00001324" "30" "1345" "8" "1345" "8" "c.1345+8A>G" "r.(=)" "p.(=)" "" "0001042891" "00001324" "50" "991" "0" "991" "0" "c.991C>T" "r.(?)" "p.(Arg331Cys)" "" "0001042895" "00001324" "30" "220" "-8" "220" "-8" "c.220-8C>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000000209" "0000005821" "0000104499" "0000169391" "0000104509" "0000169436" "0000437109" "0000931876" "0000437110" "0000931877" "0000437111" "0000931878" "0000437112" "0000931879" "0000437113" "0000931880" "0000437114" "0000931881" "0000437115" "0000931882" "0000437116" "0000931883" "0000437117" "0000931884" "0000437118" "0000931885"