### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PIGG) # 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}}" "PIGG" "phosphatidylinositol glycan anchor biosynthesis, class G" "4" "p16.3" "unknown" "NC_000004.11" "UD_136071649036" "" "http://www.LOVD.nl/PIGG" "" "1" "25985" "54872" "616918" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PIGG_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-05-18 12:44:48" "00000" "2025-11-01 13:22:20" ## 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}}" "00024133" "PIGG" "transcript variant 1" "001" "NM_001127178.1" "" "NP_001120650.1" "" "" "" "-136" "3114" "2952" "492989" "533320" "00006" "2016-05-18 12:43:45" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" "" "05365" "NEDHCAS" "neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures" "AR" "618879" "" "" "" "00006" "2017-12-29 14:39:52" "00006" "2024-07-24 10:12:34" "05403" "MRT53;GPIBD13" "mental retardation, autosomal recessive, type 53 (MRT-53, glycosylphosphatidylinositol deficiency, type 13 (GPIBD-13))" "AR" "616917" "" "autosomal recessive" "" "00006" "2018-03-09 09:03:42" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PIGG" "05403" ## 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}}" "00050680" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00065123" "" "" "" "2" "" "01604" "{PMID:Makrythanasis 2016:26996948}, {DOI:Makrythanasis 2016:10.1016/j.ajhg.2016.02.007}" "2-generation family, 2-affected sisters, PatV1[EG01]" "F" "yes" "Egypt" ">24y" "0" "" "Combiantion of valproate and carbamazepine" "" "26996948-FamPatV1[EG01]" "00065125" "" "" "00065123" "1" "" "01604" "{PMID:Makrythanasis 2016:26996948}, {DOI:Makrythanasis 2016:10.1016/j.ajhg.2016.02.007}" "PatV5[EG02]" "F" "yes" "Egypt" ">14y" "0" "" "Combiantion of valproate and topiramate" "" "26996948-FamPatV5[EG02]" "00065127" "" "" "" "1" "" "01604" "{PMID:Makrythanasis 2016:26996948}, {DOI:Makrythanasis 2016:10.1016/j.ajhg.2016.02.007}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Japan" ">03y" "0" "" "" "" "26996948-FamJPPatV6[JP01]" "00065129" "" "" "" "2" "" "01604" "{PMID:Makrythanasis 2016:26996948}, {DOI:Makrythanasis 2016:10.1016/j.ajhg.2016.02.007}" "4-generation family, affected brothers, unaffected heterozygous carrier parents" "M" "yes" "Pakistan" ">12y" "0" "" "" "" "26996948-FamPKPatV6[JP01]" "00065132" "" "" "00065129" "1" "" "01604" "{PMID:Makrythanasis 2016:26996948}, {DOI:Makrythanasis 2016:10.1016/j.ajhg.2016.02.007}" "" "M" "yes" "Pakistan" ">10y" "0" "" "" "" "26996948-FamPKPatV10[PK02]" "00155045" "" "" "" "2" "" "00081" "{PMID:Zhao 2017:28581210}" "" "M" "no" "Palestine" "" "0" "" "" "" "" "00155046" "" "" "00155045" "1" "" "00081" "{PMID:Zhao 2017:28581210}" "" "F" "no" "Palestine" "" "0" "" "" "" "" "00207523" "" "" "" "1" "" "00081" "{PMID:Lionel et al., 2018:28771251}" "Variant found in a patient with a clinical phenotype suggestive of an underlying genetic disorder using WGS" "M" "" "Canada" "" "0" "" "" "" "28771251-Pat64" "00271538" "" "" "" "1" "" "01164" "" "" "F" "?" "Greece" "" "0" "" "" "" "158025" "00289309" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00293623" "" "" "" "27" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00467516" "" "" "" "1" "" "04909" "" "" "F" "no" "Brazil;(Brazil)" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00050680" "00198" "00065123" "00139" "00065125" "00139" "00065127" "00139" "00065129" "00139" "00065132" "00139" "00155045" "00139" "00155046" "00139" "00207523" "05365" "00271538" "05162" "00271538" "05356" "00289309" "00198" "00293623" "00198" "00467516" "05403" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05162, 05356, 05365, 05403 ## Count = 10 "{{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}}" "0000037292" "00198" "00050680" "00006" "Unknown" "" "intrauterine growth retardation, febrile seizures, feeding difficulties in infancy, microcephaly, global developmental delay, deeply set eye, flat nose, shoulder dimples, skin dimples, macrotia, inverted nipples, pes planus, 2-3 toe syndactyly" "" "" "" "" "" "" "" "" "" "" "" "0000051228" "00139" "00065123" "01604" "Familial, autosomal recessive" "" "seizures (HP:0001250), thin corpus calosum (HP:0002079), asymmetry of the lateral ventricles (HP:?), hypotonia (HP:0001252), hyporeflexia (HP:0001265), joint laxity (HP:0001388), difficulty walking (HP:0002355), dysmorphic features (HP:0001999); profound intellectual disability (HP:0002187); motor delay (HP:0001270); no speech delay (-HP:0000750)" "" "" "4m" "" "" "" "" "" "" "" "" "0000051230" "00139" "00065125" "01604" "Familial, autosomal recessive" "" "seizures (HP:0001250), thin corpus calosum (HP:0002079), asymmetry of the lateral ventricles (HP:?), hypotonia (HP:0001252), hyporeflexia (HP:0001265), joint laxity (HP:0001388), difficulty walking (HP:0002355), dysmorphic features (HP:0001999); profound intellectual disability (HP:0002187); motor delay (HP:0001270); no speech delay (-HP:0000750)" "00y04m" "" "" "" "" "" "" "" "" "" "" "0000051232" "00139" "00065127" "01604" "Familial, autosomal recessive" "" "seizures (HP:0001250), vomiting (HP:0002013), lowering of consciousness (HP:0004372), eye deviation to the right side (HP:?), tonic-clonic seizures (HP:0002069), no dysmorphism (-HP:0001999), no hepatosplenomegaly (-HP:0001433), psychomotor developmental delay (HP:0001263), autistic features (HP:0001263), poor appetite (HP:0004396); severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); no speech (HP:0001344)" "00y08m" "" "Intrauterine growth retardation (HP:0001511)" "" "" "" "" "" "" "" "" "0000051234" "00139" "00065129" "01604" "Familial, autosomal recessive" "" "severe ataxia (HP:0001251), single episode of seizures (HP:0001250), no dysmorphic features (HP:0001999), nonspecific cerebellar hypoplasia (HP:0001321), mild cerebral atrophy (HP:0002059); severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); motor delay (HP:0001270)" "" "" "" "" "" "" "" "" "" "" "" "0000051238" "00139" "00065132" "01604" "Familial, autosomal recessive" "" "severe ataxia (HP:0001251), no epileptic seizures (HP:0001250), no dysmorphic features (HP:0001999), nonspecific cerebellar hypoplasia (HP:0001321), mild cerebral atrophy (HP:0002059); severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); motor delay (HP:0001270)" "" "" "" "" "" "" "" "" "" "" "" "0000155300" "05365" "00207523" "00081" "Familial, autosomal recessive" "" "Global developmental delay; muscular hypotonia; febrile seizures; decreased activity of mitochondrial complex II" "" "" "" "" "" "" "" "" "" "" "" "0000208125" "05162" "00271538" "01164" "Unknown" "" "HPO´s: Ataxia; Global developmental delay; seizures; Intracranial cystic lesion" "" "" "" "" "" "" "" "" "" "1" "" "0000222940" "00198" "00289309" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Microcephaly (HP:0000252); Epicanthus (HP:0000286); Highly arched eyebrow (HP:0002553); Low-set ears (HP:0000369); Self-injurious behavior (HP:0100716); Ventricular septal defect (HP:0001629); Intrauterine growth retardation (HP:0001511)" "" "" "" "" "" "" "" "" "" "" "" "0000352724" "05403" "00467516" "04909" "Familial, autosomal recessive" "20y" "Myokymia (HP:0002411), Gait ataxia (HP:0002066), Peripheral nerve hyperexcitability (HP:0034351), Demyelinating motor neuropathy (HP:0007220), Muscle hypertrophy of the lower extremities (HP:0008968), EMG: myokymic discharges (HP:0100288), Febrile seizure (HP:0002373)" "08y" "27y" "Myokymia (HP:0002411)" "" "" "" "" "" "" "Peripheral nerve hyperexcitability" "" ## 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}}" "0000050625" "00050680" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000065274" "00065123" "1" "01604" "01604" "2016-05-19 12:32:45" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000065276" "00065125" "1" "01604" "01604" "2016-05-19 13:00:15" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000065278" "00065127" "1" "01604" "01604" "2016-05-19 13:09:34" "" "" "PCRq;SEQ;SEQ-NG-I" "DNA" "" "" "0000065280" "00065129" "1" "01604" "01604" "2016-05-19 13:37:06" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000065284" "00065132" "1" "01604" "01604" "2016-05-19 13:42:54" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000155909" "00155045" "1" "00081" "00081" "2018-03-12 22:04:12" "" "" "SEQ-NG" "DNA" "" "WES" "0000155910" "00155046" "1" "00081" "00081" "2018-03-12 22:09:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000208561" "00207523" "1" "00081" "00081" "2018-11-23 18:21:23" "" "" "SEQ-NG-I" "DNA" "" "WGS Illumina" "0000272692" "00271538" "1" "01164" "01164" "2019-12-20 09:46:24" "" "" "SEQ-NG-I" "DNA" "" "" "0000290479" "00289309" "1" "01807" "01807" "2020-03-02 12:47:15" "" "" "SEQ" "DNA" "" "" "0000294791" "00293623" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000469179" "00467516" "1" "04909" "04909" "2025-10-14 19:52:21" "" "" "SEQ-NG-I" "DNA" "blood" "WES (whole exome sequencing)" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000065274" "PIGG" "0000065276" "PIGG" "0000065278" "PIGG" "0000065280" "PIGG" "0000065284" "PIGG" "0000208561" "PIGG" "0000272692" "PIGG" ## 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 = 58 "{{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}}" "0000079605" "0" "90" "4" "71552" "3375637" "del" "0" "00006" "IDUA_000000" "g.71552_3375637del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000096943" "3" "90" "4" "509788" "509788" "subst" "0" "01604" "PIGG_000004" "g.509788C>T" "" "{PMID:Makrythanasis 2016:26996948}, {DOI:Makrythanasis 2016:10.1016/j.ajhg.2016.02.007}" "" "" "" "Germline" "" "" "0" "" "" "g.515999C>T" "" "pathogenic" "" "0000096945" "3" "90" "4" "509788" "509788" "subst" "0" "01604" "PIGG_000004" "g.509788C>T" "" "{PMID:Makrythanasis 2016:26996948}, {DOI:Makrythanasis 2016:10.1016/j.ajhg.2016.02.007}" "" "" "" "Germline" "" "" "0" "" "" "g.515999C>T" "" "pathogenic" "" "0000096949" "11" "70" "4" "517638" "517638" "subst" "6.34753E-5" "01604" "PIGG_000001" "g.517638C>T" "" "{PMID:Makrythanasis 2016:26996948}, {DOI:Makrythanasis 2016:10.1016/j.ajhg.2016.02.007}" "" "" "" "Germline" "" "" "0" "" "" "g.523849C>T" "" "likely pathogenic" "" "0000096953" "3" "90" "4" "521020" "521020" "subst" "0" "01604" "PIGG_000005" "g.521020G>C" "" "{PMID:Makrythanasis 2016:26996948}, {DOI:Makrythanasis 2016:10.1016/j.ajhg.2016.02.007}" "" "" "" "Germline" "" "" "0" "" "" "g.527231G>C" "" "pathogenic" "" "0000096957" "3" "90" "4" "521020" "521020" "subst" "0" "01604" "PIGG_000005" "g.521020G>C" "" "{PMID:Makrythanasis 2016:26996948}, {DOI:Makrythanasis 2016:10.1016/j.ajhg.2016.02.007}" "" "" "" "Germline" "" "" "0" "" "" "g.527231G>C" "" "pathogenic" "" "0000305603" "0" "90" "4" "533077" "533077" "subst" "0" "01943" "PIGG_000007" "g.533077C>A" "" "" "" "PIGG(NM_001127178.2):c.2871C>A (p.Y957*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.539288C>A" "" "pathogenic" "" "0000336590" "20" "90" "4" "0" "0" "" "0" "00006" "PIGG_000006" "g.(pter_60226)_(2452836_2500000)del" "" "{PMID:Makrythanasis 2016:26996948}, {DOI:Makrythanasis 2016:10.1016/j.ajhg.2016.02.007}" "" "chr4: 60,226–2,452,836del" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000357752" "3" "70" "4" "517273" "517273" "subst" "2.05021E-5" "00081" "PIGG_000009" "g.517273G>A" "" "{PMID:Zhao et al. 2017:28581210}" "" "" "" "Germline" "" "" "0" "" "" "g.523484G>A" "" "likely pathogenic" "" "0000357753" "3" "70" "4" "517273" "517273" "subst" "2.05021E-5" "00081" "PIGG_000009" "g.517273G>A" "" "{PMID:Zhao et al. 2017:28581210}" "" "" "" "Germline" "" "" "0" "" "" "g.523484G>A" "" "likely pathogenic" "" "0000438441" "3" "90" "4" "527635" "527636" "del" "0" "00081" "PIGG_000010" "g.527635_527636delTA" "" "" "" "c.2600_2601delTA p.(Leu867*) (hom) [NM_017733.3]" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000522641" "0" "50" "4" "494339" "494340" "del" "0" "01804" "PIGG_000008" "g.494339_494340del" "" "" "" "PIGG(NM_001127178.1):c.307_308del (p.(His103GlnfsTer5))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.500550_500551del" "" "VUS" "" "0000522642" "0" "50" "4" "509834" "509834" "subst" "8.1211E-6" "01804" "PIGG_000014" "g.509834C>G" "" "" "" "PIGG(NM_001127178.1):c.974C>G (p.(Pro325Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.516045C>G" "" "VUS" "" "0000522643" "0" "30" "4" "515567" "515567" "subst" "0.000304549" "01804" "PIGG_000015" "g.515567C>T" "" "" "" "PIGG(NM_001127178.1):c.1451C>T (p.(Ser484Leu)), PIGG(NM_001345994.1):c.353C>T (p.S118L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.521778C>T" "" "likely benign" "" "0000522644" "0" "90" "4" "515631" "515631" "subst" "0.000694388" "02326" "PIGG_000016" "g.515631G>A" "" "" "" "PIGG(NM_001127178.2):c.1515G>A (p.W505*), PIGG(NM_001127178.3):c.1515G>A (p.(Trp505Ter), p.W505*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.521842G>A" "" "pathogenic" "" "0000522645" "0" "30" "4" "517406" "517406" "subst" "2.03047E-5" "01943" "PIGG_000017" "g.517406A>C" "" "" "" "PIGG(NM_001127178.2):c.1773A>C (p.Q591H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.523617A>C" "" "likely benign" "" "0000522646" "0" "30" "4" "517462" "517462" "subst" "8.1246E-6" "01804" "PIGG_000018" "g.517462G>T" "" "" "" "PIGG(NM_001127178.1):c.1829G>T (p.(Cys610Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.523673G>T" "" "likely benign" "" "0000522647" "0" "50" "4" "517587" "517587" "subst" "2.46017E-5" "02327" "PIGG_000019" "g.517587T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.523798T>C" "" "VUS" "" "0000522649" "0" "50" "4" "520973" "520973" "subst" "0.000799769" "01943" "PIGG_000021" "g.520973G>A" "" "" "" "PIGG(NM_001127178.2):c.2215G>A (p.G739R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.527184G>A" "" "VUS" "" "0000522651" "0" "90" "4" "527659" "527660" "del" "9.74635E-5" "02325" "PIGG_000022" "g.527659_527660del" "" "" "" "PIGG(NM_001127178.3):c.2624_2625delTA (p.L875*), PIGG(NM_001345994.2):c.1526_1527delTA (p.L509*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.533870_533871del" "" "pathogenic" "" "0000522656" "0" "50" "4" "533124" "533124" "subst" "3.67278E-5" "01943" "PIGG_000023" "g.533124C>T" "" "" "" "PIGG(NM_001127178.2):c.2918C>T (p.T973M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.539335C>T" "" "VUS" "" "0000609217" "0" "30" "4" "502710" "502710" "subst" "0" "01943" "PIGG_000024" "g.502710G>A" "" "" "" "PIGG(NM_001345986.1):c.585G>A (p.E195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.508921G>A" "" "likely benign" "" "0000609218" "0" "30" "4" "509982" "509982" "subst" "0.00287375" "01943" "PIGG_000025" "g.509982A>G" "" "" "" "PIGG(NM_001127178.3):c.1114+8A>G, PIGG(NM_001345994.1):c.-99+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.516193A>G" "" "likely benign" "" "0000609219" "0" "30" "4" "514984" "514984" "subst" "0.00287905" "01943" "PIGG_000026" "g.514984G>A" "" "" "" "PIGG(NM_001127178.2):c.1254G>A (p.T418=), PIGG(NM_001127178.3):c.1254G>A (p.T418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.521195G>A" "" "likely benign" "" "0000609226" "0" "30" "4" "532975" "532975" "subst" "0.000365512" "01943" "PIGG_000027" "g.532975C>T" "" "" "" "PIGG(NM_001127178.2):c.2769C>T (p.Y923=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.539186C>T" "" "likely benign" "" "0000626632" "0" "70" "4" "517304" "517328" "delins" "0" "01164" "PIGG_000029" "g.517304_517328delinsCCACGTCTTGAGCCT" "" "" "" "" "ACMG PVS1, PM2" "Germline" "?" "" "0" "" "" "g.523515_523539delinsCCACGTCTTGAGCCT" "" "likely pathogenic" "ACMG" "0000626633" "0" "50" "4" "527715" "527715" "subst" "0" "01164" "PIGG_000028" "g.527715G>A" "" "" "" "" "ACMG PM2, PP3" "Germline" "?" "" "0" "" "" "g.533926G>A" "" "VUS" "ACMG" "0000647151" "3" "70" "4" "517629" "517638" "del" "0" "01807" "PIGG_000030" "g.517629_517638del" "" "" "" "1996_2005delCGGCTGCTGC" "" "Unknown" "" "" "0" "" "" "g.523840_523849del" "" "likely pathogenic" "" "0000651480" "1" "10" "4" "509983" "509983" "subst" "0.00331734" "03575" "PIGG_000031" "g.509983A>G" "27/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "27 heterozygous, no homozygous; {DB:CLININrs150974506}" "Germline" "" "rs150974506" "0" "" "" "g.516194A>G" "" "benign" "" "0000655151" "0" "70" "4" "515631" "515631" "subst" "0.000694388" "01943" "PIGG_000016" "g.515631G>A" "" "" "" "PIGG(NM_001127178.2):c.1515G>A (p.W505*), PIGG(NM_001127178.3):c.1515G>A (p.(Trp505Ter), p.W505*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.521842G>A" "" "likely pathogenic" "" "0000677286" "0" "50" "4" "502759" "502759" "subst" "1.23434E-5" "01943" "PIGG_000032" "g.502759G>A" "" "" "" "PIGG(NM_001127178.2):c.901G>A (p.G301S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677287" "0" "30" "4" "515488" "515488" "subst" "0.000129965" "01943" "PIGG_000033" "g.515488C>T" "" "" "" "PIGG(NM_001127178.2):c.1372C>T (p.R458C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677288" "0" "30" "4" "517683" "517683" "subst" "0" "01943" "PIGG_000034" "g.517683C>T" "" "" "" "PIGG(NM_001345994.1):c.952C>T (p.L318F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689306" "0" "30" "4" "524468" "524468" "subst" "0" "01943" "PIGG_000035" "g.524468G>T" "" "" "" "PIGG(NM_001345994.1):c.1407G>T (p.L469=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719920" "0" "50" "4" "494258" "494258" "subst" "3.24849E-5" "02329" "PIGG_000013" "g.494258G>T" "" "" "" "PIGG(NM_001127178.2):c.228G>T (p.L76F), PIGG(NM_001127178.3):c.228G>T (p.(Leu76Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719921" "0" "70" "4" "515631" "515631" "subst" "0.000694388" "02327" "PIGG_000016" "g.515631G>A" "" "" "" "PIGG(NM_001127178.2):c.1515G>A (p.W505*), PIGG(NM_001127178.3):c.1515G>A (p.(Trp505Ter), p.W505*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000719922" "0" "50" "4" "515734" "515734" "subst" "2.03105E-5" "01943" "PIGG_000036" "g.515734C>T" "" "" "" "PIGG(NM_001289053.1):c.1351C>T (p.R451C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719923" "0" "70" "4" "527659" "527660" "del" "9.74635E-5" "02329" "PIGG_000022" "g.527659_527660del" "" "" "" "PIGG(NM_001127178.3):c.2624_2625delTA (p.L875*), PIGG(NM_001345994.2):c.1526_1527delTA (p.L509*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000850622" "0" "30" "4" "501373" "501373" "subst" "0.0015907" "02326" "PIGG_000039" "g.501373G>A" "" "" "" "PIGG(NM_001127178.3):c.750G>A (p.L250=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859444" "0" "50" "4" "499540" "499540" "subst" "2.84257E-5" "01943" "PIGG_000038" "g.499540G>A" "" "" "" "PIGG(NM_001289051.1):c.127G>A (p.D43N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859445" "0" "30" "4" "515567" "515567" "subst" "0.000304549" "01943" "PIGG_000015" "g.515567C>T" "" "" "" "PIGG(NM_001127178.1):c.1451C>T (p.(Ser484Leu)), PIGG(NM_001345994.1):c.353C>T (p.S118L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859446" "0" "30" "4" "515845" "515845" "subst" "0" "01943" "PIGG_000040" "g.515845G>A" "" "" "" "PIGG(NM_001127178.2):c.1614+115G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859447" "0" "50" "4" "520962" "520962" "subst" "0.000545493" "01943" "PIGG_000041" "g.520962G>A" "" "" "" "PIGG(NM_001345994.1):c.1106G>A (p.R369Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948326" "0" "50" "4" "502670" "502670" "subst" "0" "02327" "PIGG_000042" "g.502670T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948327" "0" "30" "4" "515503" "515503" "subst" "0.00190857" "02326" "PIGG_000043" "g.515503C>G" "" "" "" "PIGG(NM_001127178.3):c.1387C>G (p.L463V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976302" "0" "50" "4" "501335" "501335" "subst" "8.13623E-5" "01804" "PIGG_000044" "g.501335G>A" "" "" "" "PIGG(NM_001127178.3):c.712G>A (p.(Glu238Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976303" "0" "50" "4" "515977" "515977" "subst" "0" "01804" "PIGG_000045" "g.515977G>A" "" "" "" "PIGG(NM_001345989.2):c.1814G>A (p.(Arg605Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976304" "0" "70" "4" "515985" "515985" "subst" "0" "01804" "PIGG_000046" "g.515985C>T" "" "" "" "PIGG(NM_001345989.2):c.1822C>T (p.(Arg608Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001024924" "0" "30" "4" "499568" "499568" "subst" "0.000483225" "02326" "PIGG_000047" "g.499568C>T" "" "" "" "PIGG(NM_001127178.3):c.422C>T (p.A141V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024925" "0" "30" "4" "501347" "501347" "subst" "0.000439786" "02326" "PIGG_000048" "g.501347G>A" "" "" "" "PIGG(NM_001127178.3):c.724G>A (p.V242M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024926" "0" "30" "4" "509982" "509982" "subst" "0.00287375" "02326" "PIGG_000025" "g.509982A>G" "" "" "" "PIGG(NM_001127178.3):c.1114+8A>G, PIGG(NM_001345994.1):c.-99+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024927" "0" "30" "4" "514984" "514984" "subst" "0.00287905" "02326" "PIGG_000026" "g.514984G>A" "" "" "" "PIGG(NM_001127178.2):c.1254G>A (p.T418=), PIGG(NM_001127178.3):c.1254G>A (p.T418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034571" "0" "50" "4" "494258" "494258" "subst" "3.24849E-5" "01804" "PIGG_000013" "g.494258G>T" "" "" "" "PIGG(NM_001127178.2):c.228G>T (p.L76F), PIGG(NM_001127178.3):c.228G>T (p.(Leu76Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034572" "0" "50" "4" "502725" "502725" "subst" "7.71674E-5" "01804" "PIGG_000049" "g.502725G>T" "" "" "" "PIGG(NM_001127178.3):c.867G>T (p.(Leu289=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034573" "0" "90" "4" "515631" "515631" "subst" "0.000694388" "01804" "PIGG_000016" "g.515631G>A" "" "" "" "PIGG(NM_001127178.2):c.1515G>A (p.W505*), PIGG(NM_001127178.3):c.1515G>A (p.(Trp505Ter), p.W505*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001045957" "0" "70" "4" "533040" "533040" "subst" "0" "02325" "PIGG_000050" "g.533040T>G" "" "" "" "PIGG(NM_001127178.3):c.2834T>G (p.L945*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001049366" "3" "90" "4" "515631" "515631" "subst" "0.000694388" "04909" "PIGG_000016" "g.515631G>A" "" "" "" "" "" "Germline" "?" "rs150259543" "0" "" "" "g.521842G>A" "" "pathogenic (recessive)" "ACMG" "0001051627" "0" "50" "4" "520908" "520908" "subst" "2.8493E-5" "01804" "PIGG_000051" "g.520908C>T" "" "" "" "PIGG(NM_001127178.3):c.2150C>T (p.(Ser717Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PIGG ## Count = 58 "{{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}}" "0000079605" "00024133" "00" "-421573" "0" "2845431" "0" "c.-421573_*2842479del" "r.0?" "p.0?" "" "0000096943" "00024133" "90" "928" "0" "928" "0" "c.928C>T" "r.(?)" "p.(Gln310*)" "6" "0000096945" "00024133" "90" "928" "0" "928" "0" "c.928C>T" "r.(?)" "p.(Gln310*)" "6" "0000096949" "00024133" "70" "2005" "0" "2005" "0" "c.2005C>T" "r.(?)" "p.(Arg669Cys)" "" "0000096953" "00024133" "90" "2261" "1" "2261" "1" "c.2261+1G>C" "r.spl" "p.?" "10i" "0000096957" "00024133" "90" "2261" "1" "2261" "1" "c.2261+1G>C" "r.spl" "p.?" "10i" "0000305603" "00024133" "90" "2871" "0" "2871" "0" "c.2871C>A" "r.(?)" "p.(Tyr957Ter)" "" "0000336590" "00024133" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_13_" "0000357752" "00024133" "70" "1640" "0" "1640" "0" "c.1640G>A" "r.(?)" "p.(Trp547*)" "" "0000357753" "00024133" "70" "1640" "0" "1640" "0" "c.1640G>A" "r.(?)" "p.(Trp547*)" "" "0000438441" "00024133" "90" "2600" "0" "2601" "0" "c.2600_2601delTA" "r.(?)" "p.(Leu867*)" "" "0000522641" "00024133" "50" "309" "0" "310" "0" "c.309_310del" "r.(?)" "p.(His103GlnfsTer5)" "" "0000522642" "00024133" "50" "974" "0" "974" "0" "c.974C>G" "r.(?)" "p.(Pro325Arg)" "" "0000522643" "00024133" "30" "1451" "0" "1451" "0" "c.1451C>T" "r.(?)" "p.(Ser484Leu)" "" "0000522644" "00024133" "90" "1515" "0" "1515" "0" "c.1515G>A" "r.(?)" "p.(Trp505Ter)" "" "0000522645" "00024133" "30" "1773" "0" "1773" "0" "c.1773A>C" "r.(?)" "p.(Gln591His)" "" "0000522646" "00024133" "30" "1829" "0" "1829" "0" "c.1829G>T" "r.(?)" "p.(Cys610Phe)" "" "0000522647" "00024133" "50" "1954" "0" "1954" "0" "c.1954T>C" "r.(?)" "p.(Trp652Arg)" "" "0000522649" "00024133" "50" "2215" "0" "2215" "0" "c.2215G>A" "r.(?)" "p.(Gly739Arg)" "" "0000522651" "00024133" "90" "2624" "0" "2625" "0" "c.2624_2625del" "r.(?)" "p.(Leu875Ter)" "" "0000522656" "00024133" "50" "2918" "0" "2918" "0" "c.2918C>T" "r.(?)" "p.(Thr973Met)" "" "0000609217" "00024133" "30" "852" "0" "852" "0" "c.852G>A" "r.(?)" "p.(Glu284=)" "" "0000609218" "00024133" "30" "1114" "8" "1114" "8" "c.1114+8A>G" "r.(=)" "p.(=)" "" "0000609219" "00024133" "30" "1254" "0" "1254" "0" "c.1254G>A" "r.(?)" "p.(Thr418=)" "" "0000609226" "00024133" "30" "2769" "0" "2769" "0" "c.2769C>T" "r.(?)" "p.(Tyr923=)" "" "0000626632" "00024133" "70" "1671" "0" "1695" "0" "c.1671_1695delinsCCACGTCTTGAGCCT" "r.(?)" "p.(Thr558Hisfs*22)" "" "0000626633" "00024133" "50" "2680" "0" "2680" "0" "c.2680G>A" "r.(?)" "p.(Gly894Arg)" "" "0000647151" "00024133" "70" "1996" "0" "2005" "0" "c.1996_2005del" "r.(?)" "p.(Arg666Alafs*3)" "" "0000651480" "00024133" "10" "1114" "9" "1114" "9" "c.1114+9A>G" "r.(=)" "p.(=)" "" "0000655151" "00024133" "70" "1515" "0" "1515" "0" "c.1515G>A" "r.(?)" "p.(Trp505Ter)" "" "0000677286" "00024133" "50" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Gly301Ser)" "" "0000677287" "00024133" "30" "1372" "0" "1372" "0" "c.1372C>T" "r.(?)" "p.(Arg458Cys)" "" "0000677288" "00024133" "30" "2050" "0" "2050" "0" "c.2050C>T" "r.(?)" "p.(Leu684Phe)" "" "0000689306" "00024133" "30" "2505" "0" "2505" "0" "c.2505G>T" "r.(?)" "p.(Leu835=)" "" "0000719920" "00024133" "50" "228" "0" "228" "0" "c.228G>T" "r.(?)" "p.(Leu76Phe)" "" "0000719921" "00024133" "70" "1515" "0" "1515" "0" "c.1515G>A" "r.(?)" "p.(Trp505Ter)" "" "0000719922" "00024133" "50" "1614" "4" "1614" "4" "c.1614+4C>T" "r.spl?" "p.?" "" "0000719923" "00024133" "70" "2624" "0" "2625" "0" "c.2624_2625del" "r.(?)" "p.(Leu875Ter)" "" "0000850622" "00024133" "30" "750" "0" "750" "0" "c.750G>A" "r.(?)" "p.(Leu250=)" "" "0000859444" "00024133" "50" "394" "0" "394" "0" "c.394G>A" "r.(?)" "p.(Asp132Asn)" "" "0000859445" "00024133" "30" "1451" "0" "1451" "0" "c.1451C>T" "r.(?)" "p.(Ser484Leu)" "" "0000859446" "00024133" "30" "1614" "115" "1614" "115" "c.1614+115G>A" "r.(=)" "p.(=)" "" "0000859447" "00024133" "50" "2204" "0" "2204" "0" "c.2204G>A" "r.(?)" "p.(Arg735Gln)" "" "0000948326" "00024133" "50" "812" "0" "812" "0" "c.812T>G" "r.(?)" "p.(Met271Arg)" "" "0000948327" "00024133" "30" "1387" "0" "1387" "0" "c.1387C>G" "r.(?)" "p.(Leu463Val)" "" "0000976302" "00024133" "50" "712" "0" "712" "0" "c.712G>A" "r.(?)" "p.(Glu238Lys)" "" "0000976303" "00024133" "50" "1614" "247" "1614" "247" "c.1614+247G>A" "r.(=)" "p.(=)" "" "0000976304" "00024133" "70" "1614" "255" "1614" "255" "c.1614+255C>T" "r.(=)" "p.(=)" "" "0001024924" "00024133" "30" "422" "0" "422" "0" "c.422C>T" "r.(?)" "p.(Ala141Val)" "" "0001024925" "00024133" "30" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Val242Met)" "" "0001024926" "00024133" "30" "1114" "8" "1114" "8" "c.1114+8A>G" "r.(=)" "p.(=)" "" "0001024927" "00024133" "30" "1254" "0" "1254" "0" "c.1254G>A" "r.(?)" "p.(Thr418=)" "" "0001034571" "00024133" "50" "228" "0" "228" "0" "c.228G>T" "r.(?)" "p.(Leu76Phe)" "" "0001034572" "00024133" "50" "867" "0" "867" "0" "c.867G>T" "r.(?)" "p.(=)" "" "0001034573" "00024133" "90" "1515" "0" "1515" "0" "c.1515G>A" "r.(?)" "p.(Trp505Ter)" "" "0001045957" "00024133" "70" "2834" "0" "2834" "0" "c.2834T>G" "r.(?)" "p.(Leu945*)" "" "0001049366" "00024133" "90" "1515" "0" "1515" "0" "c.1515G>A" "r.(?)" "p.(Trp505*)" "" "0001051627" "00024133" "50" "2150" "0" "2150" "0" "c.2150C>T" "r.(?)" "p.(Ser717Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000050625" "0000079605" "0000065274" "0000096943" "0000065276" "0000096945" "0000065278" "0000096949" "0000065278" "0000336590" "0000065280" "0000096953" "0000065284" "0000096957" "0000155909" "0000357752" "0000155910" "0000357753" "0000208561" "0000438441" "0000272692" "0000626632" "0000272692" "0000626633" "0000290479" "0000647151" "0000294791" "0000651480" "0000469179" "0001049366"