### 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" "00006" "2025-11-13 13:04:16" ## 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 = 6 "{{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" "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 = 16 "{{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" "00467468" "" "" "" "1" "" "00006" "{PMID:Chapman 2025:40885185}, {DOI:Chapman 2025:10.1016/j.ajhg.2025.08.004}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat2" "00469222" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469223" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{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" "00467468" "05611" "00469222" "00198" "00469223" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00743, 01157, 03381, 05611, 07018 ## Count = 16 "{{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}}" "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" "" "0000352675" "05611" "00467468" "00006" "Isolated (sporadic)" "" "see paper; ..., developmental delay; intellectual disability; no microcephaly; no thin or hypoplastic corpus callosum; seizures" "9y" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000354375" "00198" "00469222" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the musculoskeletal system" "" "0000354376" "00198" "00469223" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the musculoskeletal system" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{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" "0000469131" "00467468" "1" "00006" "00006" "2025-10-13 13:50:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470890" "00469222" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470891" "00469223" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "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 = 38 "{{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" "" "0001049320" "21" "70" "19" "3653547" "3653547" "subst" "0" "00006" "PIP5K1C_000022" "g.3653547T>C" "" "{PMID:Chapman 2025:40885185}, {DOI:Chapman 2025:10.1016/j.ajhg.2025.08.004}" "" "" "" "Germline" "" "" "0" "" "" "g.3653549T>C" "" "VUS" "" "0001059012" "0" "90" "19" "3646025" "3646025" "subst" "0" "00006" "PIP5K1C_000038" "g.3646025T>C" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.3646027T>C" "" "pathogenic" "" "0001059013" "0" "90" "19" "3645984" "3645984" "subst" "4.06329E-6" "00006" "PIP5K1C_000037" "g.3645984G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.3645986G>A" "" "pathogenic" "" ## 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 = 38 "{{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.(=)" "" "0001049320" "00001324" "70" "662" "0" "662" "0" "c.662A>G" "r.(?)" "p.(Tyr221Cys)" "" "0001059012" "00001324" "90" "1292" "0" "1292" "0" "c.1292A>G" "r.(?)" "p.(Tyr431Cys)" "" "0001059013" "00001324" "90" "1333" "0" "1333" "0" "c.1333C>T" "r.(?)" "p.(Arg445Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{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" "0000469131" "0001049320" "0000470890" "0001059012" "0000470891" "0001059013"