### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PIGV) # 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}}" "PIGV" "phosphatidylinositol glycan anchor biosynthesis, class V" "1" "p36.11" "unknown" "NG_028133.1" "UD_131827380221" "" "http://www.LOVD.nl/PIGV" "" "1" "26031" "55650" "610274" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/PIGV_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-11-27 00:00:00" "00081" "2018-12-31 00:40:13" "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}}" "00016161" "PIGV" "transcript variant 2" "001" "NM_017837.3" "" "NP_060307.2" "" "" "" "-363" "2041" "1482" "27114454" "27124894" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "00541" "HPMRS1;GPIBD2" "hyperphosphatasia, with mental retardation syndrome, type 1 (HPMRS-1, glycosylphosphatidylinositol deficiency, type 2 (GPIBD-2))" "AR" "239300" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04060" "HPMRS4;GPIBD10" "hyperphosphatasia, with mental retardation syndrome, type 4 (HPMRS-4, glycosylphosphatidylinositol deficiency, type 10 (GPIBD-10))" "AR" "615716" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04147" "MRT" "mental retardation, autosomal recessive (MRT, intellectual disability (IDT))" "" "" "" "autosomal recessive" "" "00006" "2014-10-11 12:21:35" "00006" "2018-12-18 09:25:11" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PIGV" "00139" "PIGV" "00541" ## Individuals ## Do not remove or alter this header ## ## Count = 25 "{{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}}" "00025920" "" "" "" "3" "" "00081" "{PMID: Krawitz 2010:20802478}, {PMID:Horn 2010:20080219}" "3 siblings of unrelated parents with hyperphosphatasia and severe mental retardation syndrome." "-" "no" "Germany" "" "0" "" "" "white" "" "00025921" "" "" "" "2" "" "00081" "{PMID: Krawitz 2010:20802478}, {PMID:Rabe 1991:1724113}" "two sibsters, 3 and 6 year-old, with with hyperphosphatasia and severe mental retardation syndrome 1." "F" "?" "" "" "0" "" "" "" "" "00025922" "" "" "" "2" "" "00081" "{PMID: Krawitz 2010:20802478}, {PMID:Marcelis:17351347}" "Two sisters with hyperphospatasia mental retardation 1." "F" "yes" "Morocco" "" "0" "" "" "African" "" "00025923" "" "" "" "1" "" "00081" "{PMID: Krawitz 2010:20802478}, {PMID:Thompson 2010:20578257}" "13-year-old proposita with hyperphophatasia and severe mental retardation." "F" "no" "Germany" "" "0" "" "" "white" "" "00025924" "" "" "" "1" "" "00081" "{PMID: Horn 2011:21739589}" "Index case with Hyperphosphatasia-mental retardation syndrome 1." "?" "?" "Poland" "" "0" "" "" "white" "" "00025925" "" "" "" "1" "" "00081" "{PMID: Horn 2011:21739589}" "Index case with Hyperphosphatasia-mental retardation syndrome 1." "?" "?" "Germany" "" "0" "" "" "white" "" "00025926" "" "" "" "1" "" "00081" "{PMID:Thompson 2012:22315194}" "Siblings with hyperphosphatasia with neurologic deficit." "-" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00025927" "" "" "" "1" "" "00081" "{PMID:Thompson 2012:22315194}" "Index case with hyperphosphatasia with mental retardation." "F" "yes" "Netherlands" "" "0" "" "" "white" "" "00025928" "" "" "" "1" "" "00081" "{PMID:Thompson 2012:22315194}" "Index case with hyperphosphatasia with mental retardation 1." "F" "no" "United States" "" "0" "" "" "white" "" "00025929" "" "" "" "1" "" "00081" "{PMID:Howard 2014:24439110}" "Index case." "F" "no" "United States" "" "0" "" "" "white" "" "00050599" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00155025" "" "" "" "1" "" "00081" "{PMID:Xue 2016:27177984}" "" "F" "no" "China" "" "0" "" "" "" "" "00155027" "" "" "" "1" "" "00081" "{PMID:Reynolds 2017:28817240}" "" "M" "?" "" "" "0" "" "" "" "" "00155028" "" "" "" "1" "" "00081" "{PMID:Horn 2014:24129430}" "" "F" "yes" "" "" "0" "" "" "Pakistani" "Patient_1" "00155029" "" "" "" "1" "" "00081" "{PMID:Horn 2014:24129430}" "" "M" "no" "" "" "0" "" "" "German" "Patient_2" "00155030" "" "" "" "1" "" "00081" "{PMID:Horn 2014:24129430}" "" "F" "no" "" "" "0" "" "" "German" "Patient_3" "00155031" "" "" "" "1" "" "00081" "{PMID:Horn 2014:24129430}" "" "M" "no" "" "" "0" "" "" "Croatian" "Patient_4" "00155032" "" "" "" "1" "" "00081" "{PMID:Horn 2014:24129430}" "" "M" "no" "" "" "0" "" "" "Croatian" "Patient_5" "00155033" "" "" "" "1" "" "00081" "{PMID:Horn 2014:24129430}" "" "M" "no" "" "" "0" "" "" "German" "Patient_6" "00155034" "" "" "" "1" "" "00081" "{PMID:Horn 2014:24129430}" "" "F" "no" "" "" "0" "" "" "German" "Patient_7" "00155035" "" "" "" "1" "" "00081" "{PMID:Horn 2014:24129430}" "" "M" "no" "" "" "0" "" "" "German" "Patient_8" "00155036" "" "" "" "1" "" "00081" "{PMID:Horn 2014:24129430}" "" "F" "no" "" "" "0" "" "" "German" "Patient_9" "00207586" "" "" "" "1" "" "00081" "{PMID:Coutton et al., 2013:23521658}" "Clinical and molecular characterization of a patient with de novo 1p36.11 microduplication including PIGV and ARID1A in a girl with intellectual disability and hexadactyly" "F" "no" "" "" "0" "" "" "" "Patient" "00289812" "" "" "" "42" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304196" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 25 "{{individualid}}" "{{diseaseid}}" "00025920" "00541" "00025921" "00541" "00025922" "00541" "00025923" "00541" "00025924" "00541" "00025925" "00541" "00025926" "00541" "00025927" "00541" "00025928" "00541" "00025929" "04060" "00050599" "00198" "00155025" "00541" "00155027" "00541" "00155028" "00139" "00155029" "00139" "00155030" "00139" "00155031" "00139" "00155032" "00139" "00155033" "00139" "00155034" "00139" "00155035" "00139" "00155036" "00139" "00207586" "04147" "00289812" "00198" "00304196" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00541, 04060, 04147 ## Count = 12 "{{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}}" "0000021990" "00541" "00025920" "00081" "Familial, autosomal recessive" "" "Oldest patien twas a 4-year-old girl, her brothers were dizygotic twin brothers of patient 1 and were 18 months old at time of first evaluation. Facial anomalies comprised hypertelorism, large appearing eyes, a short nose with a broad nasal bridge and tip, thin upper lip with down-turned corners of the mouth. Clinically and radiologically, shortness of several distal phalanges could be demonstrated which mainly affected digits II and V. All patients had a severe global developmental delay without any speech development. At two years, patient 2 developed seizures. Older sister had congenital megacolon. Twin brothers presented sensorineural deafness." "" "" "" "" "" "" "" "" "" "" "" "0000021991" "00541" "00025921" "00081" "Familial, autosomal recessive" "" "The patients presented developmental retardation, facial and skeletal anomalies, and hyperphosphatasia. Facial features included hyperthelorism, wide palpebral fissures, broad nasal bridge, downturned corners of mouth. The prsented nail hypoplasia." "" "" "" "" "" "" "" "" "" "" "" "0000021992" "00541" "00025922" "00081" "Familial, autosomal recessive" "" "These siblings share severe mental retardation, epilepsy, anterior displaced anus, and hypoplastic nails. Fetal pads were noted on all fingers and toes. The nail hypoplasia was associated with hypoplasia of the distal phalanx of the fifth finger in the older sibling. Elder sister died suddenly at age 10 years." "" "" "" "" "" "" "" "" "" "" "" "0000021993" "00541" "00025923" "00081" "Familial, autosomal recessive" "" "Her psychomotor development was considerably delayed. Epilepsy started as early as in\r\nher first year of life which responded well to treatment with valproic acid. Serum alkaline\r\nphosphatase was significantly and constantly elevated. Dysmorphic facial features include\r\nwidely spaced eyes with an upward slant of palpebral fissures, a broad nasal bridge and tip,\r\nand a tented upper lip. Her hands and feet show bilateral brachytelephalangy including\r\nsmall nails. Radiographs of her left hand and left foot disclosed abnormally short distal\r\nphalanges of fingers and toes, respectively." "" "" "" "" "" "" "" "" "" "" "" "0000021994" "00541" "00025924" "00081" "Familial, autosomal recessive" "" "Clinical features included developmental delay, elevated serum levels of AP, distinctive facial features, hypoplastic terminal phalanges, and anal atresia." "" "" "" "" "" "" "" "" "" "" "" "0000021995" "00541" "00025925" "00081" "Familial, autosomal recessive" "" "Patient with developmental delay, elevated serum levels of AP, distinctive facial features, hypoplastic terminal phalanges, and Hirschsprung disease." "" "" "" "" "" "" "" "" "" "" "" "0000021996" "00541" "00025926" "00081" "Familial, autosomal recessive" "" "Elder sister was hypotonic at birth and had a round face, downturned mouth, and thickened helices. She developed tonic-clonic seizures at age 8 weeks. Renal ultrasound study showed unilateral hydronephrosis. She had an anteriorly placed anus and constipation, but a rectal biopsy showed normal innervation. Development was delayed and at the age 4 years. Long palpebral fissures, a prominent nasal bridge, simple cupped ears with thickened helices, and a tented upper lip with downturned corners of the mouth were observed. Brachytelephalangy was present with hypoplastic nails, especially on thumbs and little fingers. She developed a mild scoliosis. Her brother developed seizures after birth. He had Hirschsprung disease. He had simple cupped ears with thickened helices, a tented upper lip with downturned corners of the mouth, a high palate with bifid uvula, convergent squint, and glue ear. Development was profoundly delayed at age 5 years. Hypoplastic nails and diminutive terminal phalanges of all digits of both hands and feet suggested brachytelephalangy. He had problems swallowing secretions, and had multiple upper respiratory tract infections and was oxygen dependent. He died at 7 years of age." "" "" "" "" "" "" "" "" "" "" "" "0000021997" "00541" "00025927" "00081" "Familial, autosomal recessive" "" "At birth, features included a tented upper lip. Hands and feet were affected with hypoplasia of the terminal phalanges and missing nails on the second and fifth digits. At 2 years, Moderate to severe intellectual disability, hypotonia and growth delay were noted. Seizures developed after the age of 5 years." "" "" "" "" "" "" "" "" "" "" "" "0000021998" "00541" "00025928" "00081" "Familial, autosomal recessive" "" "Developmental delay was noted by the age of 16 months. Frequent generalized tonic-clonic seizures commenced at age 4 years. She had delayed psychomotor development and hypotonia, hypertelorism, a broad nasal bridge and tented upper lip. Her hands and feet were normal with no evidence of clinodactyly or brachytelephalangy." "" "" "" "" "" "" "" "" "" "" "" "0000021999" "04060" "00025929" "00081" "Familial, autosomal recessive" "10y" "She presented global development delay, elevated serum ALP levels, and tonic-clonic and cluster seizures. Facial features included apparent hypertelorism, broad nasal bridge and nasal tip, short nose, Tented upper-lip vermilion ." "" "" "" "" "" "" "" "" "" "" "" "0000037211" "00198" "00050599" "00006" "Isolated (sporadic)" "" "postnatal microcephaly, specific learning disability, hypoplastic iris stroma, low hanging columella" "" "" "" "" "" "" "" "" "" "" "" "0000155397" "04147" "00207586" "00081" "Unknown" "" "Four‐limb postaxial hexadactyly. Facial dysmorphic features (broad nasal bridge and tip, short philtrum, thin upper lip, abnormal ears, spare scalp hairs), severe microcephaly of prenatal onset and overlapping toes. She also suffered of constipation, gastro‐oesophageal reflux, feeding problems and eczema in relation to a cow\'s milk protein allergy. Motor skills delay, severe developmental and speech delay. Serum ALP level was normal." "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 25 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000025922" "00025920" "1" "00081" "00081" "2014-12-04 17:17:08" "" "" "SEQ" "DNA" "" "" "0000025923" "00025921" "1" "00081" "00081" "2014-12-04 17:34:07" "" "" "SEQ" "DNA" "" "" "0000025924" "00025922" "1" "00081" "00081" "2014-12-04 18:01:21" "" "" "SEQ" "DNA" "" "" "0000025925" "00025923" "1" "00081" "00081" "2014-12-04 18:11:29" "" "" "SEQ" "DNA" "" "" "0000025926" "00025924" "1" "00081" "00081" "2014-12-04 18:38:06" "" "" "SEQ" "DNA" "" "" "0000025927" "00025925" "1" "00081" "00081" "2014-12-04 18:46:44" "" "" "SEQ" "DNA" "" "" "0000025928" "00025926" "1" "00081" "00081" "2014-12-04 19:13:58" "" "" "SEQ" "DNA" "" "" "0000025929" "00025927" "1" "00081" "00081" "2014-12-04 19:38:45" "" "" "SEQ" "DNA" "" "" "0000025930" "00025928" "1" "00081" "00081" "2014-12-04 19:55:27" "" "" "SEQ" "DNA" "" "" "0000025931" "00025929" "1" "00081" "00081" "2014-12-08 18:15:50" "" "" "SEQ-NG" "DNA" "" "" "0000050544" "00050599" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000155890" "00155025" "1" "00081" "00081" "2018-03-12 16:39:38" "" "" "SEQ-NG" "DNA" "" "panel of 470 genes related to epilepsy" "0000155891" "00155027" "1" "00081" "00081" "2018-03-12 17:04:07" "" "" "SEQ-NG" "DNA" "" "WES" "0000155892" "00155028" "1" "00081" "00081" "2018-03-12 17:25:20" "" "" "PCR" "DNA" "peripheral blood" "BigDye Terminator v3.1 Cycle Sequencing Kit" "0000155893" "00155029" "1" "00081" "00081" "2018-03-12 17:33:25" "00081" "2018-03-12 17:35:53" "PCR" "DNA" "peripheral blood" "BigDye Terminator v3.1 Cycle Sequencing Kit" "0000155894" "00155030" "1" "00081" "00081" "2018-03-12 17:38:21" "" "" "PCR" "DNA" "peripheral blood" "BigDye Terminator v3.1 Cycle Sequencing Kit" "0000155895" "00155031" "1" "00081" "00081" "2018-03-12 17:41:44" "" "" "PCR" "DNA" "peripheral blood" "BigDye Terminator v3.1 Cycle Sequencing Kit" "0000155896" "00155032" "1" "00081" "00081" "2018-03-12 17:45:44" "" "" "PCR" "DNA" "peripheral blood" "BigDye Terminator v3.1 Cycle Sequencing Kit" "0000155897" "00155033" "1" "00081" "00081" "2018-03-12 17:48:48" "" "" "PCR" "DNA" "peripheral blood" "BigDye Terminator v3.1 Cycle Sequencing Kit" "0000155898" "00155034" "1" "00081" "00081" "2018-03-12 17:55:15" "" "" "PCR" "DNA" "peripheral blood" "BigDye Terminator v3.1 Cycle Sequencing Kit" "0000155899" "00155035" "1" "00081" "00081" "2018-03-12 17:57:46" "" "" "PCR" "DNA" "peripheral blood" "BigDye Terminator v3.1 Cycle Sequencing Kit" "0000155900" "00155036" "1" "00081" "00081" "2018-03-12 18:02:04" "" "" "PCR" "DNA" "peripheral blood" "BigDye Terminator v3.1 Cycle Sequencing Kit" "0000208623" "00207586" "1" "00081" "00081" "2018-11-25 18:36:43" "" "" "arrayCGH;FISH" "DNA" "" "" "0000290980" "00289812" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305325" "00304196" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{geneid}}" "0000025922" "PIGV" "0000025923" "PIGV" "0000025924" "PIGV" "0000025925" "PIGV" "0000025926" "PIGV" "0000025927" "PIGV" "0000025928" "PIGV" "0000025929" "PIGV" "0000025930" "PIGV" "0000025931" "PGAP3" "0000050544" "ARID1A" "0000155892" "PIGV" "0000155893" "PIGV" "0000155894" "PIGV" "0000155895" "PIGV" "0000155896" "PIGV" "0000155897" "PIGV" "0000155898" "PIGV" "0000155899" "PIGV" "0000155900" "PIGV" "0000208623" "PIGV" ## 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 = 75 "{{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}}" "0000048948" "3" "99" "1" "27121547" "27121547" "subst" "0.0001137" "00081" "PIGV_000001" "g.27121547C>A" "" "{PMID:Krawtiz 2010:20802478]}" "" "" "This mutation affectis an evolutionarily highly conserved residue. PIGV-deficient CHO cells that were transiently transfected with p.Ala341Glu mutant didn\'t restore CD59 and CD55 surface expression." "Germline" "yes" "rs139073416" "0" "" "" "g.26795056C>A" "" "pathogenic" "" "0000048949" "0" "90" "1" "27121679" "27121679" "subst" "4.11431E-6" "00081" "PIGV_000002" "g.27121679A>C" "" "{PMID:Krawtiz 2010:20802478]}" "" "" "This mutation affects a highly conserved residue of PIGV. This was absent in 200 200 healthy, unrelated central European individuals." "Germline" "yes" "rs267606951" "0" "" "" "g.26795188A>C" "" "pathogenic" "" "0000048950" "0" "99" "1" "27121547" "27121547" "subst" "0.0001137" "00081" "PIGV_000001" "g.27121547C>A" "" "{PMID:Krawtiz 2010:20802478]}" "" "" "This mutation affects a highly conserved residue, it was not found in 200 healthy controls. PIGV-deficient CHO cells that were transiently transfected with p.Ala341Glu mutant didn\'t restore CD59 and CD55 surface expression." "Germline" "yes" "" "0" "" "" "g.26795056C>A" "" "pathogenic" "" "0000048951" "3" "90" "1" "27121291" "27121291" "subst" "0" "00081" "PIGV_000003" "g.27121291C>A" "" "{PMID:Krawtiz 2010:20802478]}" "" "" "This mutations results in a substitution in a highly conserved residue. The mutation was not found in 200 controls." "Germline" "yes" "rs267606952" "0" "" "" "g.26794800C>A" "" "pathogenic" "" "0000048952" "3" "99" "1" "27121547" "27121547" "subst" "0" "00081" "PIGV_000004" "g.27121547C>T" "" "{PMID:Krawtiz 2010:20802478]}" "" "" "This mutation affects a highly conserved residue. This was absent in 200 controls. PIGV-deficient CHO cells that were transiently transfected with p.Ala341Glu mutant didn\'t restore CD59 and CD55 surface expression." "Germline" "yes" "rs139073416" "0" "" "" "g.26795056C>T" "" "pathogenic" "" "0000048953" "0" "90" "1" "27120992" "27120992" "subst" "0.000105579" "00081" "PIGV_000005" "g.27120992G>A" "" "{PMID:Horn 2011:21739589}" "" "" "This mutation was not detected in 150 control samples. This missense mutation affects a conserved residue." "Germline" "yes" "" "0" "" "" "g.26794501G>A" "" "pathogenic" "" "0000048954" "0" "99" "1" "27121547" "27121547" "subst" "0.0001137" "00081" "PIGV_000001" "g.27121547C>A" "" "" "" "" "" "Germline" "?" "rs139073416" "0" "" "" "g.26795056C>A" "" "pathogenic" "" "0000048955" "3" "99" "1" "27121547" "27121547" "subst" "0.0001137" "00081" "PIGV_000001" "g.27121547C>A" "" "{PMID:Horn 2011:21739589}" "" "" "" "Germline" "?" "rs139073416" "0" "" "" "g.26795056C>A" "" "pathogenic" "" "0000048956" "0" "90" "1" "27120992" "27120992" "subst" "0.000105579" "00081" "PIGV_000005" "g.27120992G>A" "" "{PMID:Thompson 2012:22315194}" "" "" "This mutation alters a residues in PIGV that is well conserved adn it was not found in the 4,000 exomes available through the University of Washington genome centre." "Germline" "yes" "" "0" "" "" "g.26794501G>A" "" "pathogenic" "" "0000048957" "0" "90" "1" "27121019" "27121019" "subst" "2.03049E-5" "00081" "PIGV_000006" "g.27121019C>A" "" "{PMID:Thompson 2012:22315194}" "" "" "First report of this mutation. This mutation alters a residue in PIGV that is well conserved. It was not detected in the 4,000 exomes available through the University of Washington genome centre." "Germline" "yes" "" "0" "" "" "g.26794528C>A" "" "pathogenic" "" "0000048958" "0" "99" "1" "27121547" "27121547" "subst" "0.0001137" "00081" "PIGV_000001" "g.27121547C>A" "" "{PMID:Thompson 2012:22315194}" "" "" "Alters a conserved residue. It was not found in 4000 exomes." "Germline" "yes" "rs139073416" "0" "" "" "g.26795056C>A" "" "pathogenic" "" "0000048959" "0" "90" "1" "27121547" "27121547" "subst" "0" "00081" "PIGV_000004" "g.27121547C>T" "" "{PMID:Thompson 2012:22315194}" "" "" "This mutation affects a conserved residue. it was not not detected in the 4,000 exomes available through the University of Washington genome centre." "Germline" "yes" "" "0" "" "" "g.26795056C>T" "" "pathogenic" "" "0000048960" "0" "90" "1" "27124222" "27124222" "subst" "0.000864904" "00081" "PIGV_000007" "g.27124222C>T" "" "{PMID:Thompson 2012:22315194}" "" "" "This mutation results in a substitution in the mannose transferase domain of the enzyme. Polyphen-2 modeling for pathogenicity of the p.Leu457Phe variant suggested that it would probably be damaging to protein structure and function. It was not detected in the 4,000 exomes available through the University of Washington genome centre." "Germline" "yes" "" "0" "" "" "g.26797731C>T" "" "pathogenic" "" "0000048961" "0" "30" "1" "27124222" "27124222" "subst" "0.000864904" "00081" "PIGV_000007" "g.27124222C>T" "" "{PMID:Howard 2014:24439110}" "" "" "PIGV-defective Chinese hamster ovary (CHO) cells, the altered protein restored the surface levels of GPI-APs as efficiently as the wild-type protein, suggesting no functional impairment of PIGV" "Germline" "no" "" "0" "" "" "g.26797731C>T" "" "likely benign" "" "0000079524" "0" "90" "1" "27022755" "27190596" "dup" "0" "00006" "ARID1A_000099" "g.27022755_27190596dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "De novo" "" "" "0" "" "" "g.26696264_26864105dup" "" "pathogenic" "" "0000300787" "0" "90" "1" "27120964" "27120964" "subst" "2.03031E-5" "02326" "PIGV_000011" "g.27120964C>T" "" "" "" "PIGV(NM_001202554.1):c.439C>T (p.Q147*), PIGV(NM_001202554.2):c.439C>T (p.Q147*), PIGV(NM_017837.4):c.439C>T (p.(Gln147Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26794473C>T" "" "pathogenic" "" "0000300788" "0" "70" "1" "27121019" "27121019" "subst" "2.03049E-5" "02326" "PIGV_000006" "g.27121019C>A" "" "" "" "PIGV(NM_001202554.1):c.494C>A (p.(Ala165Glu)), PIGV(NM_001202554.2):c.494C>A (p.A165E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26794528C>A" "" "likely pathogenic" "" "0000305610" "0" "50" "1" "27120626" "27120626" "subst" "0.00170953" "01943" "PIGV_000010" "g.27120626C>T" "" "" "" "PIGV(NM_001202554.1):c.101C>T (p.P34L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26794135C>T" "" "VUS" "" "0000305611" "0" "30" "1" "27120998" "27120998" "subst" "0.000710793" "01943" "PIGV_000012" "g.27120998G>A" "" "" "" "PIGV(NM_001202554.1):c.473G>A (p.S158N, p.(Ser158Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26794507G>A" "" "likely benign" "" "0000320685" "0" "50" "1" "27120619" "27120619" "subst" "2.43645E-5" "01804" "PIGV_000009" "g.27120619A>G" "" "" "" "PIGV(NM_001202554.1):c.94A>G (p.(Ile32Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26794128A>G" "" "VUS" "" "0000320687" "0" "50" "1" "27120998" "27120998" "subst" "0.000710793" "01804" "PIGV_000012" "g.27120998G>A" "" "" "" "PIGV(NM_001202554.1):c.473G>A (p.S158N, p.(Ser158Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26794507G>A" "" "VUS" "" "0000320688" "0" "30" "1" "27121102" "27121102" "subst" "8.12203E-6" "01804" "PIGV_000013" "g.27121102G>A" "" "" "" "PIGV(NM_001202554.1):c.577G>A (p.(Val193Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26794611G>A" "" "likely benign" "" "0000320689" "0" "50" "1" "27121397" "27121397" "subst" "6.9031E-5" "01804" "PIGV_000014" "g.27121397A>G" "" "" "" "PIGV(NM_001202554.1):c.872A>G (p.(Asn291Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26794906A>G" "" "VUS" "" "0000320690" "0" "50" "1" "27121714" "27121714" "subst" "2.9107E-5" "01804" "PIGV_000015" "g.27121714A>G" "" "" "" "PIGV(NM_001202554.1):c.1189A>G (p.(Met397Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26795223A>G" "" "VUS" "" "0000320691" "0" "30" "1" "27124283" "27124283" "subst" "0" "01804" "PIGV_000016" "g.27124283C>T" "" "" "" "PIGV(NM_001202554.1):c.1430C>T (p.(Thr477Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26797792C>T" "" "likely benign" "" "0000341202" "0" "90" "1" "27121019" "27121019" "subst" "2.03049E-5" "02327" "PIGV_000006" "g.27121019C>A" "" "" "" "PIGV(NM_001202554.1):c.494C>A (p.(Ala165Glu)), PIGV(NM_001202554.2):c.494C>A (p.A165E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26794528C>A" "" "pathogenic" "" "0000357722" "11" "70" "1" "27121140" "27121140" "subst" "0" "00081" "PIGV_000017" "g.27121140C>G" "" "{PMID:Xue et al. 2016:27177984}" "" "NM_001202554:c.615C>G" "" "Germline" "" "" "0" "" "" "g.26794649C>G" "" "likely pathogenic" "" "0000357723" "21" "70" "1" "27121379" "27121379" "subst" "4.06068E-6" "00081" "PIGV_000018" "g.27121379A>G" "" "{PMID:Xue et al. 2016:27177984}" "" "NM_001202554:c.854A>G" "" "Germline" "" "" "0" "" "" "g.26794888A>G" "" "likely pathogenic" "" "0000357724" "21" "70" "1" "27121547" "27121547" "subst" "0.0001137" "00081" "PIGV_000001" "g.27121547C>A" "" "{PMID:Reynolds et al. 2017:28817240}" "" "" "" "Germline" "" "" "0" "" "" "g.26795056C>A" "" "likely pathogenic" "" "0000357725" "11" "70" "1" "27124106" "27124106" "subst" "0" "00081" "PIGV_000019" "g.27124106C>A" "" "{PMID:Reynolds et al. 2017:28817240}" "" "" "" "Germline" "" "" "0" "" "" "g.26797615C>A" "" "likely pathogenic" "" "0000357726" "3" "70" "1" "27121430" "27121430" "subst" "2.03028E-5" "00081" "PIGV_000020" "g.27121430T>C" "" "{PMID:Horn et al. 2014:24129430}" "" "" "" "Germline" "" "" "0" "" "" "g.26794939T>C" "" "likely pathogenic" "" "0000357727" "3" "70" "1" "27121547" "27121547" "subst" "0.0001137" "00081" "PIGV_000001" "g.27121547C>A" "" "{PMID:Horn et al. 2014:24129430}" "" "" "" "Germline" "" "" "0" "" "" "g.26795056C>A" "" "likely pathogenic" "" "0000357728" "3" "70" "1" "27121547" "27121547" "subst" "0.0001137" "00081" "PIGV_000001" "g.27121547C>A" "" "{PMID:Horn et al. 2014:24129430}" "" "" "" "Germline" "" "" "0" "" "" "g.26795056C>A" "" "likely pathogenic" "" "0000357729" "3" "70" "1" "27121547" "27121547" "subst" "0.0001137" "00081" "PIGV_000001" "g.27121547C>A" "" "{PMID:Horn et al. 2014:24129430}" "" "" "" "Germline" "" "" "0" "" "" "g.26795056C>A" "" "likely pathogenic" "" "0000357730" "3" "70" "1" "27121547" "27121547" "subst" "0.0001137" "00081" "PIGV_000001" "g.27121547C>A" "" "{PMID:Horn et al. 2014:24129430}" "" "" "" "Germline" "" "" "0" "" "" "g.26795056C>A" "" "likely pathogenic" "" "0000357731" "0" "70" "1" "27121547" "27121547" "subst" "0.0001137" "00081" "PIGV_000001" "g.27121547C>A" "" "{PMID:Horn et al. 2014:24129430}" "" "" "" "Germline" "" "" "0" "" "" "g.26795056C>A" "" "likely pathogenic" "" "0000357732" "0" "70" "1" "27120701" "27120701" "subst" "8.1211E-6" "00081" "PIGV_000021" "g.27120701T>G" "" "{PMID:Horn et al. 2014:24129430}" "" "" "" "Germline" "" "" "0" "" "" "g.26794210T>G" "" "likely pathogenic" "" "0000357733" "3" "70" "1" "27121547" "27121547" "subst" "0.0001137" "00081" "PIGV_000001" "g.27121547C>A" "" "{PMID:Horn et al. 2014:24129430}" "" "" "" "Germline" "" "" "0" "" "" "g.26795056C>A" "" "likely pathogenic" "" "0000357734" "0" "70" "1" "27121547" "27121547" "subst" "0.0001137" "00081" "PIGV_000001" "g.27121547C>A" "" "{PMID:Horn et al. 2014:24129430}" "" "" "" "Germline" "" "" "0" "" "" "g.26795056C>A" "" "likely pathogenic" "" "0000357735" "0" "70" "1" "27117359" "27117359" "subst" "0" "00081" "PIGV_000022" "g.27117359G>A" "" "{PMID:Horn et al. 2014:24129430}" "" "" "" "Germline" "" "" "0" "" "" "g.26790868G>A" "" "likely pathogenic" "" "0000357736" "0" "70" "1" "27121547" "27121547" "subst" "0.0001137" "00081" "PIGV_000001" "g.27121547C>A" "" "{PMID:Horn et al. 2014:24129430}" "" "" "" "Germline" "" "" "0" "" "" "g.26795056C>A" "" "likely pathogenic" "" "0000357737" "0" "70" "1" "27124258" "27124258" "subst" "4.06072E-5" "00081" "PIGV_000023" "g.27124258C>T" "" "{PMID:Horn et al. 2014:24129430}" "" "" "" "Germline" "" "" "0" "" "" "g.26797767C>T" "" "likely pathogenic" "" "0000438540" "0" "90" "1" "27001256" "27190935" "dup" "0" "00081" "PIGV_000024" "g.27001256_27190935dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.26674765_26864444dup" "" "pathogenic" "" "0000439017" "0" "77" "1" "27120790" "27120790" "subst" "0" "00081" "PIGV_000025" "g.27120790C>T" "" "{PMID:Knaus et al. 2018:29310717}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.26794299C>T" "" "likely pathogenic" "" "0000439018" "0" "77" "1" "27120977" "27120977" "subst" "0" "00081" "PIGV_000026" "g.27120977C>T" "" "{PMID:Knaus et al. 2018:29310717}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.26794486C>T" "" "likely pathogenic" "" "0000439019" "0" "77" "1" "27121139" "27121139" "subst" "1.62433E-5" "00081" "PIGV_000027" "g.27121139A>G" "" "{PMID:Knaus et al. 2018:29310717}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.26794648A>G" "" "likely pathogenic" "" "0000506977" "0" "30" "1" "27120874" "27120874" "subst" "0.00141313" "01804" "PIGV_000028" "g.27120874A>G" "" "" "" "PIGV(NM_001202554.1):c.349A>G (p.(Ile117Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26794383A>G" "" "likely benign" "" "0000506978" "0" "30" "1" "27120953" "27120953" "subst" "7.71517E-5" "01943" "PIGV_000029" "g.27120953A>G" "" "" "" "PIGV(NM_001202554.1):c.428A>G (p.H143R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26794462A>G" "" "likely benign" "" "0000506979" "0" "70" "1" "27121019" "27121019" "subst" "2.03049E-5" "01804" "PIGV_000006" "g.27121019C>A" "" "" "" "PIGV(NM_001202554.1):c.494C>A (p.(Ala165Glu)), PIGV(NM_001202554.2):c.494C>A (p.A165E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26794528C>A" "" "likely pathogenic" "" "0000506980" "0" "70" "1" "27121019" "27121019" "subst" "2.03049E-5" "02325" "PIGV_000006" "g.27121019C>A" "" "" "" "PIGV(NM_001202554.1):c.494C>A (p.(Ala165Glu)), PIGV(NM_001202554.2):c.494C>A (p.A165E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26794528C>A" "" "likely pathogenic" "" "0000506981" "0" "30" "1" "27121036" "27121036" "subst" "4.06081E-6" "01943" "PIGV_000030" "g.27121036G>A" "" "" "" "PIGV(NM_001202554.1):c.511G>A (p.A171T), PIGV(NM_017837.4):c.511G>A (p.(Ala171Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26794545G>A" "" "likely benign" "" "0000506982" "0" "50" "1" "27121036" "27121036" "subst" "4.06081E-6" "01804" "PIGV_000030" "g.27121036G>A" "" "" "" "PIGV(NM_001202554.1):c.511G>A (p.A171T), PIGV(NM_017837.4):c.511G>A (p.(Ala171Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26794545G>A" "" "VUS" "" "0000506983" "0" "30" "1" "27121151" "27121151" "subst" "1.21825E-5" "01804" "PIGV_000031" "g.27121151G>C" "" "" "" "PIGV(NM_001202554.1):c.626G>C (p.(Ser209Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26794660G>C" "" "likely benign" "" "0000506984" "0" "50" "1" "27124222" "27124222" "subst" "0.000864904" "01804" "PIGV_000007" "g.27124222C>T" "" "" "" "PIGV(NM_001202554.1):c.1369C>T (p.(Leu457Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26797731C>T" "" "VUS" "" "0000605650" "0" "50" "1" "27120640" "27120640" "subst" "4.46664E-5" "01943" "PIGV_000032" "g.27120640G>A" "" "" "" "PIGV(NM_001202554.1):c.115G>A (p.E39K), PIGV(NM_017837.4):c.115G>A (p.(Glu39Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26794149G>A" "" "VUS" "" "0000605651" "0" "30" "1" "27124130" "27124130" "subst" "0.00135233" "01804" "PIGV_000033" "g.27124130C>T" "" "" "" "PIGV(NM_001202554.1):c.1277C>T (p.(Pro426Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26797639C>T" "" "likely benign" "" "0000647669" "1" "50" "1" "27114484" "27114484" "subst" "0" "03575" "PIGV_000034" "g.27114484C>T" "42/2786 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "42 heterozygous; {DB:CLININrs118069986}" "Germline" "" "rs118069986" "0" "" "" "g.26787993C>T" "" "VUS" "" "0000669013" "3" "50" "1" "27114484" "27114484" "subst" "0" "03575" "PIGV_000034" "g.27114484C>T" "2/2786 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs118069986}" "Germline" "" "rs118069986" "0" "" "" "g.26787993C>T" "" "VUS" "" "0000688125" "0" "70" "1" "27120992" "27120992" "subst" "0.000105579" "01943" "PIGV_000005" "g.27120992G>A" "" "" "" "PIGV(NM_001202554.1):c.467G>A (p.C156Y, p.(Cys156Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000717416" "0" "90" "1" "27120964" "27120964" "subst" "2.03031E-5" "01943" "PIGV_000011" "g.27120964C>T" "" "" "" "PIGV(NM_001202554.1):c.439C>T (p.Q147*), PIGV(NM_001202554.2):c.439C>T (p.Q147*), PIGV(NM_017837.4):c.439C>T (p.(Gln147Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000717417" "0" "30" "1" "27121604" "27121604" "subst" "0" "01943" "PIGV_000035" "g.27121604G>A" "" "" "" "PIGV(NM_001202554.1):c.1079G>A (p.R360K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883379" "0" "70" "1" "27120790" "27120790" "subst" "0" "02327" "PIGV_000025" "g.27120790C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000911051" "0" "50" "1" "27120992" "27120992" "subst" "0.000105579" "01804" "PIGV_000005" "g.27120992G>A" "" "" "" "PIGV(NM_001202554.1):c.467G>A (p.C156Y, p.(Cys156Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000972067" "0" "50" "1" "27124283" "27124283" "subst" "0" "03779" "PIGV_000016" "g.27124283C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs940048236" "0" "" "" "" "" "VUS" "" "0000972068" "0" "50" "1" "27121102" "27121102" "subst" "8.12203E-6" "03779" "PIGV_000013" "g.27121102G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1460987621" "0" "" "" "" "" "VUS" "" "0000973880" "0" "50" "1" "27117359" "27117359" "subst" "0" "01804" "PIGV_000022" "g.27117359G>A" "" "" "" "PIGV(NM_017837.4):c.53G>A (p.(Cys18Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973881" "0" "50" "1" "27120640" "27120640" "subst" "4.46664E-5" "01804" "PIGV_000032" "g.27120640G>A" "" "" "" "PIGV(NM_001202554.1):c.115G>A (p.E39K), PIGV(NM_017837.4):c.115G>A (p.(Glu39Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973882" "0" "50" "1" "27120659" "27120659" "subst" "9.33934E-5" "01804" "PIGV_000036" "g.27120659G>A" "" "" "" "PIGV(NM_017837.4):c.134G>A (p.(Arg45His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991111" "0" "50" "1" "27121066" "27121066" "subst" "0" "01804" "PIGV_000037" "g.27121066A>T" "" "" "" "PIGV(NM_017837.3):c.541A>T (p.(Met181Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031950" "0" "30" "1" "27117244" "27117244" "subst" "0" "01804" "PIGV_000038" "g.27117244G>A" "" "" "" "PIGV(NM_017837.4):c.-57-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031951" "0" "70" "1" "27120964" "27120964" "subst" "2.03031E-5" "01804" "PIGV_000011" "g.27120964C>T" "" "" "" "PIGV(NM_001202554.1):c.439C>T (p.Q147*), PIGV(NM_001202554.2):c.439C>T (p.Q147*), PIGV(NM_017837.4):c.439C>T (p.(Gln147Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001031952" "0" "50" "1" "27121376" "27121376" "subst" "0.000113699" "01804" "PIGV_000039" "g.27121376G>A" "" "" "" "PIGV(NM_017837.4):c.851G>A (p.(Gly284Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031953" "0" "50" "1" "27121595" "27121595" "subst" "0" "01804" "PIGV_000040" "g.27121595G>A" "" "" "" "PIGV(NM_017837.4):c.1070G>A (p.(Gly357Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031954" "0" "50" "1" "27124258" "27124258" "subst" "1.62429E-5" "01804" "PIGV_000041" "g.27124258C>G" "" "" "" "PIGV(NM_017837.4):c.1405C>G (p.(Arg469Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031955" "0" "50" "1" "27124320" "27124320" "subst" "8.52875E-5" "01804" "PIGV_000042" "g.27124320C>G" "" "" "" "PIGV(NM_017837.4):c.1467C>G (p.(Phe489Leu))" "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 PIGV ## Count = 75 "{{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}}" "0000048948" "00016161" "99" "1022" "0" "1022" "0" "c.1022C>A" "r.(?)" "p.(Ala341Glu)" "" "0000048949" "00016161" "90" "1154" "0" "1154" "0" "c.1154A>C" "r.(?)" "p.(His385Pro)" "" "0000048950" "00016161" "99" "1022" "0" "1022" "0" "c.1022C>A" "r.(?)" "p.(Ala341Glu)" "" "0000048951" "00016161" "90" "766" "0" "766" "0" "c.766C>A" "r.(?)" "p.(Gln256Lys)" "" "0000048952" "00016161" "99" "1022" "0" "1022" "0" "c.1022C>T" "r.(?)" "p.(Ala341Val)" "" "0000048953" "00016161" "90" "467" "0" "467" "0" "c.467G>A" "r.(?)" "p.(Cys156Tyr)" "" "0000048954" "00016161" "99" "1022" "0" "1022" "0" "c.1022C>A" "r.(?)" "p.(Ala341Glu)" "" "0000048955" "00016161" "99" "1022" "0" "1022" "0" "c.1022C>A" "r.(?)" "p.(Ala341Glu)" "" "0000048956" "00016161" "90" "467" "0" "467" "0" "c.467G>A" "r.(?)" "p.(Cys156Tyr)" "" "0000048957" "00016161" "90" "494" "0" "494" "0" "c.494C>A" "r.(?)" "p.(Ala165Glu)" "" "0000048958" "00016161" "99" "1022" "0" "1022" "0" "c.1022C>A" "r.(?)" "p.(Ala341Glu)" "" "0000048959" "00016161" "90" "1022" "0" "1022" "0" "c.1022C>T" "r.(?)" "p.(Ala341Val)" "" "0000048960" "00016161" "90" "1369" "0" "1369" "0" "c.1369C>T" "r.(?)" "p.(Leu457Phe)" "" "0000048961" "00016161" "30" "1369" "0" "1369" "0" "c.1369C>T" "r.(?)" "p.(Leu457Phe)" "" "0000079524" "00016161" "00" "-92062" "0" "67743" "0" "c.-92062_*66261dup" "" "" "" "0000300787" "00016161" "90" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Gln147Ter)" "" "0000300788" "00016161" "70" "494" "0" "494" "0" "c.494C>A" "r.(?)" "p.(Ala165Glu)" "" "0000305610" "00016161" "50" "101" "0" "101" "0" "c.101C>T" "r.(?)" "p.(Pro34Leu)" "" "0000305611" "00016161" "30" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Ser158Asn)" "" "0000320685" "00016161" "50" "94" "0" "94" "0" "c.94A>G" "r.(?)" "p.(Ile32Val)" "" "0000320687" "00016161" "50" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Ser158Asn)" "" "0000320688" "00016161" "30" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Val193Ile)" "" "0000320689" "00016161" "50" "872" "0" "872" "0" "c.872A>G" "r.(?)" "p.(Asn291Ser)" "" "0000320690" "00016161" "50" "1189" "0" "1189" "0" "c.1189A>G" "r.(?)" "p.(Met397Val)" "" "0000320691" "00016161" "30" "1430" "0" "1430" "0" "c.1430C>T" "r.(?)" "p.(Thr477Ile)" "" "0000341202" "00016161" "90" "494" "0" "494" "0" "c.494C>A" "r.(?)" "p.(Ala165Glu)" "" "0000357722" "00016161" "70" "615" "0" "615" "0" "c.615C>G" "r.(?)" "p.(Asn205Lys)" "2" "0000357723" "00016161" "70" "854" "0" "854" "0" "c.854A>G" "r.(?)" "p.(Tyr285Cys)" "2" "0000357724" "00016161" "70" "1022" "0" "1022" "0" "c.1022C>A" "r.(?)" "p.(Ala341Glu)" "3" "0000357725" "00016161" "70" "1253" "0" "1253" "0" "c.1253C>A" "r.(?)" "p.(Ala418Asp)" "4" "0000357726" "00016161" "70" "905" "0" "905" "0" "c.905T>C" "r.(?)" "p.(Leu302Pro)" "" "0000357727" "00016161" "70" "1022" "0" "1022" "0" "c.1022C>A" "r.(?)" "p.(Ala341Glu)" "" "0000357728" "00016161" "70" "1022" "0" "1022" "0" "c.1022C>A" "r.(?)" "p.(Ala341Glu)" "" "0000357729" "00016161" "70" "1022" "0" "1022" "0" "c.1022C>A" "r.(?)" "p.(Ala341Glu)" "" "0000357730" "00016161" "70" "1022" "0" "1022" "0" "c.1022C>A" "r.(?)" "p.(Ala341Glu)" "" "0000357731" "00016161" "70" "1022" "0" "1022" "0" "c.1022C>A" "r.(?)" "p.(Ala341Glu)" "" "0000357732" "00016161" "70" "176" "0" "176" "0" "c.176T>G" "r.(?)" "p.(Leu59Arg)" "" "0000357733" "00016161" "70" "1022" "0" "1022" "0" "c.1022C>A" "r.(?)" "p.(Ala341Glu)" "" "0000357734" "00016161" "70" "1022" "0" "1022" "0" "c.1022C>A" "r.(?)" "p.(Ala341Glu)" "" "0000357735" "00016161" "70" "53" "0" "53" "0" "c.53G>A" "r.(?)" "p.(Cys18Tyr)" "" "0000357736" "00016161" "70" "1022" "0" "1022" "0" "c.1022C>A" "r.(?)" "p.(Ala341Glu)" "" "0000357737" "00016161" "70" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469*)" "" "0000438540" "00016161" "90" "-113561" "0" "68082" "0" "c.-113561_*66600dup" "r.0?" "p.0?" "" "0000439017" "00016161" "77" "265" "0" "265" "0" "c.265C>T" "r.(?)" "p.(Pro89Ser)" "" "0000439018" "00016161" "77" "452" "0" "452" "0" "c.452C>T" "r.(?)" "p.(Ala151Val)" "" "0000439019" "00016161" "77" "614" "0" "614" "0" "c.614A>G" "r.(?)" "p.(Asn205Ser)" "" "0000506977" "00016161" "30" "349" "0" "349" "0" "c.349A>G" "r.(?)" "p.(Ile117Val)" "" "0000506978" "00016161" "30" "428" "0" "428" "0" "c.428A>G" "r.(?)" "p.(His143Arg)" "" "0000506979" "00016161" "70" "494" "0" "494" "0" "c.494C>A" "r.(?)" "p.(Ala165Glu)" "" "0000506980" "00016161" "70" "494" "0" "494" "0" "c.494C>A" "r.(?)" "p.(Ala165Glu)" "" "0000506981" "00016161" "30" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Ala171Thr)" "" "0000506982" "00016161" "50" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Ala171Thr)" "" "0000506983" "00016161" "30" "626" "0" "626" "0" "c.626G>C" "r.(?)" "p.(Ser209Thr)" "" "0000506984" "00016161" "50" "1369" "0" "1369" "0" "c.1369C>T" "r.(?)" "p.(Leu457Phe)" "" "0000605650" "00016161" "50" "115" "0" "115" "0" "c.115G>A" "r.(?)" "p.(Glu39Lys)" "" "0000605651" "00016161" "30" "1277" "0" "1277" "0" "c.1277C>T" "r.(?)" "p.(Pro426Leu)" "" "0000647669" "00016161" "50" "-333" "0" "-333" "0" "c.-333C>T" "r.(=)" "p.(=)" "" "0000669013" "00016161" "50" "-333" "0" "-333" "0" "c.-333C>T" "r.(=)" "p.(=)" "" "0000688125" "00016161" "70" "467" "0" "467" "0" "c.467G>A" "r.(?)" "p.(Cys156Tyr)" "" "0000717416" "00016161" "90" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Gln147Ter)" "" "0000717417" "00016161" "30" "1079" "0" "1079" "0" "c.1079G>A" "r.(?)" "p.(Arg360Lys)" "" "0000883379" "00016161" "70" "265" "0" "265" "0" "c.265C>T" "r.(?)" "p.(Pro89Ser)" "" "0000911051" "00016161" "50" "467" "0" "467" "0" "c.467G>A" "r.(?)" "p.(Cys156Tyr)" "" "0000972067" "00016161" "50" "1430" "0" "1430" "0" "c.1430C>T" "r.(?)" "p.(Thr477Ile)" "" "0000972068" "00016161" "50" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Val193Ile)" "" "0000973880" "00016161" "50" "53" "0" "53" "0" "c.53G>A" "r.(?)" "p.(Cys18Tyr)" "" "0000973881" "00016161" "50" "115" "0" "115" "0" "c.115G>A" "r.(?)" "p.(Glu39Lys)" "" "0000973882" "00016161" "50" "134" "0" "134" "0" "c.134G>A" "r.(?)" "p.(Arg45His)" "" "0000991111" "00016161" "50" "541" "0" "541" "0" "c.541A>T" "r.(?)" "p.(Met181Leu)" "" "0001031950" "00016161" "30" "-57" "-6" "-57" "-6" "c.-57-6G>A" "r.(=)" "p.(=)" "" "0001031951" "00016161" "70" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Gln147Ter)" "" "0001031952" "00016161" "50" "851" "0" "851" "0" "c.851G>A" "r.(?)" "p.(Gly284Asp)" "" "0001031953" "00016161" "50" "1070" "0" "1070" "0" "c.1070G>A" "r.(?)" "p.(Gly357Glu)" "" "0001031954" "00016161" "50" "1405" "0" "1405" "0" "c.1405C>G" "r.(?)" "p.(Arg469Gly)" "" "0001031955" "00016161" "50" "1467" "0" "1467" "0" "c.1467C>G" "r.(?)" "p.(Phe489Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 34 "{{screeningid}}" "{{variantid}}" "0000025922" "0000048948" "0000025923" "0000048949" "0000025923" "0000048950" "0000025924" "0000048951" "0000025925" "0000048952" "0000025926" "0000048953" "0000025926" "0000048954" "0000025927" "0000048955" "0000025928" "0000048956" "0000025928" "0000048957" "0000025929" "0000048958" "0000025929" "0000048959" "0000025930" "0000048960" "0000025931" "0000048961" "0000050544" "0000079524" "0000155890" "0000357722" "0000155890" "0000357723" "0000155891" "0000357724" "0000155891" "0000357725" "0000155892" "0000357726" "0000155893" "0000357727" "0000155894" "0000357728" "0000155895" "0000357729" "0000155896" "0000357730" "0000155897" "0000357731" "0000155897" "0000357732" "0000155898" "0000357733" "0000155899" "0000357734" "0000155899" "0000357735" "0000155900" "0000357736" "0000155900" "0000357737" "0000208623" "0000438540" "0000290980" "0000647669" "0000305325" "0000669013"