### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PLD1) # 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}}" "PLD1" "phospholipase D1, phosphatidylcholine-specific" "3" "q26" "unknown" "NG_029851.1" "UD_136020308064" "" "https://www.LOVD.nl/PLD1" "" "1" "9067" "5337" "602382" "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/PLD1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-06-11 15:01:28" "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}}" "00016314" "PLD1" "transcript variant 1" "002" "NM_002662.4" "" "NP_002653.1" "" "" "" "-127" "5898" "3225" "171528284" "171318195" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "05768" "CVDP1" "dysplasia, valvular, cardiac, type 1" "AR" "212093" "" "" "" "00006" "2020-06-11 15:04:05" "00006" "2024-01-26 11:42:20" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PLD1" "05768" ## Individuals ## Do not remove or alter this header ## ## Count = 22 "{{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}}" "00303392" "" "" "" "3" "" "00006" "{PMID:Ta-Shma 2017:27799408}" "2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents" "F;M" "yes" "Israel" "" "0" "" "" "" "FamA" "00303393" "" "" "" "3" "" "00006" "{PMID:Ta-Shma 2017:27799408}" "2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents" "F;M" "yes" "Israel" "" "0" "" "" "" "FamBPatII1" "00303394" "" "" "" "2" "" "00006" "Lahrouchi ESHG2020 C05.3" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "yes" "Netherlands" "" "0" "" "" "" "FamA" "00303395" "" "" "" "1" "" "00006" "Lahrouchi ESHG2020 C05.3" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "FamB" "00303396" "" "" "" "1" "" "00006" "Lahrouchi ESHG2020 C05.3" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "FamC" "00303397" "" "" "" "2" "" "00006" "Lahrouchi ESHG2020 C05.3" "2-generation family, 2 affected fetuses, unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "FamD" "00303398" "" "" "" "2" "" "00006" "Lahrouchi ESHG2020 C05.3" "2-generation family, 2 affected fetuses, unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "FamE" "00303399" "" "" "" "2" "" "00006" "Lahrouchi ESHG2020 C05.3" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "FamF" "00303400" "" "" "" "2" "" "00006" "Lahrouchi ESHG2020 C05.3" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "Jewish-Ashkenazi" "FamG" "00303401" "" "" "" "1" "" "00006" "Lahrouchi ESHG2020 C05.3" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "Jewish-Ashkenazi" "FamH" "00303402" "" "" "" "1" "" "00006" "Lahrouchi ESHG2020 C05.3" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "Jewish-Ashkenazi" "FamI" "00303403" "" "" "" "1" "" "00006" "Lahrouchi ESHG2020 C05.3" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "FamJ" "00303404" "" "" "" "1" "" "00006" "Lahrouchi ESHG2020 C05.3" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "FamK" "00303405" "" "" "" "1" "" "00006" "Lahrouchi ESHG2020 C05.3" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "FamL" "00303406" "" "" "" "1" "" "00006" "Lahrouchi ESHG2020 C05.3" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "FamM" "00303407" "" "" "" "1" "" "00006" "Lahrouchi ESHG2020 C05.3" "2-generation family, 3 affected fetuses, unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "FamP" "00303408" "" "" "" "3" "" "00006" "Lahrouchi ESHG2020 C05.3" "2-generation family, 1 affected fetus, unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "FamQ" "00303409" "" "" "" "1" "" "00006" "Lahrouchi ESHG2020 C05.3" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "FamR" "00303410" "" "" "" "1" "" "00006" "Lahrouchi ESHG2020 C05.3" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "FamS" "00303411" "" "" "" "1" "" "00006" "Lahrouchi ESHG2020 C05.3" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "FamT" "00303412" "" "" "00303393" "1" "" "00006" "{PMID:Ta-Shma 2017:27799408}" "distant relative" "M" "" "Israel" "" "0" "" "" "" "FamBPatII3" "00447729" "" "" "" "2" "" "01164" "" "prenatal trio exom after ultrasound abnormalities; family, 2 affected" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "283496" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00303392" "00152" "00303393" "00152" "00303394" "00152" "00303395" "00152" "00303396" "00152" "00303397" "00152" "00303398" "00152" "00303399" "00152" "00303400" "00152" "00303401" "00152" "00303402" "00152" "00303403" "00152" "00303404" "00152" "00303405" "00152" "00303406" "00152" "00303407" "00152" "00303408" "00152" "00303409" "00152" "00303410" "00152" "00303411" "00152" "00303412" "00152" "00447729" "05768" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00152, 05768 ## Count = 22 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000230468" "00152" "00303392" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "CVDD" "congenital heart disease" "0000230469" "00152" "00303393" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "CVDD" "congenital heart disease" "0000230470" "00152" "00303394" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "CVDD" "congenital heart disease" "0000230471" "00152" "00303395" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "CVDD" "congenital heart disease" "0000230472" "00152" "00303396" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "CVDD" "congenital heart disease" "0000230473" "00152" "00303397" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "CVDD" "congenital heart disease" "0000230474" "00152" "00303398" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "CVDD" "congenital heart disease" "0000230475" "00152" "00303399" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "CVDD" "congenital heart disease" "0000230476" "00152" "00303400" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "CVDD" "congenital heart disease" "0000230477" "00152" "00303401" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "CVDD" "congenital heart disease" "0000230478" "00152" "00303402" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "CVDD" "congenital heart disease" "0000230479" "00152" "00303403" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "CVDD" "congenital heart disease" "0000230480" "00152" "00303404" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "CVDD" "congenital heart disease" "0000230481" "00152" "00303405" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "CVDD" "congenital heart disease" "0000230482" "00152" "00303406" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "CVDD" "congenital heart disease" "0000230483" "00152" "00303407" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "CVDD" "congenital heart disease" "0000230484" "00152" "00303408" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "CVDD" "congenital heart disease" "0000230485" "00152" "00303409" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "CVDD" "congenital heart disease" "0000230486" "00152" "00303410" "00006" "Familial, autosomal recessive" "" "see paper; ..., neonatal cardiomyopathy; 3d-died circulatory failure" "" "" "" "" "" "" "" "CVDD" "congenital heart disease" "0000230487" "00152" "00303411" "00006" "Familial, autosomal recessive" "" "see paper; ..., neonatal histiocytoid cardiomyopathy; 8d-died" "" "" "" "" "" "" "" "CVDD" "congenital heart disease" "0000230488" "00152" "00303412" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "0000336928" "05768" "00447729" "01164" "Familial, autosomal recessive" "23+3" "Abnormality of prenatal development or birth, Abnormal fetal cardiovascular morphology, Biparietal narrowing, Muscular ventricular septal defect, Endocardial fibroelastosis, Coronary cameral fistula to right ventricle" "" "" "prenatal" "" "" "" "" "CVDP1" "" ## Screenings ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000304518" "00303392" "1" "00006" "00006" "2020-06-11 15:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304519" "00303393" "1" "00006" "00006" "2020-06-11 15:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304520" "00303394" "1" "00006" "00006" "2020-06-11 15:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304521" "00303395" "1" "00006" "00006" "2020-06-11 15:56:30" "" "" "SEQ" "DNA" "" "" "0000304522" "00303396" "1" "00006" "00006" "2020-06-11 15:56:30" "" "" "SEQ" "DNA" "" "" "0000304523" "00303397" "1" "00006" "00006" "2020-06-11 15:56:30" "" "" "SEQ" "DNA" "" "" "0000304524" "00303398" "1" "00006" "00006" "2020-06-11 15:56:30" "" "" "SEQ" "DNA" "" "" "0000304525" "00303399" "1" "00006" "00006" "2020-06-11 15:56:30" "" "" "SEQ" "DNA" "" "" "0000304526" "00303400" "1" "00006" "00006" "2020-06-11 15:56:30" "" "" "SEQ" "DNA" "" "" "0000304527" "00303401" "1" "00006" "00006" "2020-06-11 15:56:30" "" "" "SEQ" "DNA" "" "" "0000304528" "00303402" "1" "00006" "00006" "2020-06-11 15:56:30" "" "" "SEQ" "DNA" "" "" "0000304529" "00303403" "1" "00006" "00006" "2020-06-11 15:56:30" "" "" "SEQ" "DNA" "" "" "0000304530" "00303404" "1" "00006" "00006" "2020-06-11 15:56:30" "" "" "SEQ" "DNA" "" "" "0000304531" "00303405" "1" "00006" "00006" "2020-06-11 15:56:30" "" "" "SEQ" "DNA" "" "" "0000304532" "00303406" "1" "00006" "00006" "2020-06-11 15:56:30" "" "" "SEQ" "DNA" "" "" "0000304533" "00303407" "1" "00006" "00006" "2020-06-11 15:56:30" "" "" "SEQ" "DNA" "" "" "0000304534" "00303408" "1" "00006" "00006" "2020-06-11 15:56:30" "" "" "SEQ" "DNA" "" "" "0000304535" "00303409" "1" "00006" "00006" "2020-06-11 15:56:30" "" "" "SEQ" "DNA" "" "" "0000304536" "00303410" "1" "00006" "00006" "2020-06-11 15:56:30" "" "" "SEQ" "DNA" "" "" "0000304537" "00303411" "1" "00006" "00006" "2020-06-11 15:56:30" "" "" "SEQ" "DNA" "" "" "0000304538" "00303412" "1" "00006" "00006" "2020-06-11 16:04:31" "" "" "SEQ" "DNA" "" "" "0000449306" "00447729" "1" "01164" "01164" "2024-01-26 10:59:00" "" "" "SEQ-NG-I" "DNA" "amniotic fluid" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{geneid}}" "0000304518" "PLD1" "0000304519" "PLD1" "0000304520" "PLD1" "0000304521" "PLD1" "0000304522" "PLD1" "0000304523" "PLD1" "0000304524" "PLD1" "0000304525" "PLD1" "0000304526" "PLD1" "0000304527" "PLD1" "0000304528" "PLD1" "0000304529" "PLD1" "0000304530" "PLD1" "0000304531" "PLD1" "0000304532" "PLD1" "0000304533" "PLD1" "0000304534" "PLD1" "0000304535" "PLD1" "0000304536" "PLD1" "0000304537" "PLD1" "0000304538" "PLD1" "0000449306" "PLD1" ## 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 = 55 "{{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}}" "0000305841" "0" "30" "3" "171455415" "171455415" "subst" "4.11624E-6" "01943" "PLD1_000002" "g.171455415T>C" "" "" "" "PLD1(NM_002662.4):c.195A>G (p.Q65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.171737625T>C" "" "likely benign" "" "0000305842" "0" "50" "3" "171360656" "171360656" "subst" "0" "01943" "PLD1_000001" "g.171360656G>C" "" "" "" "PLD1(NM_002662.4):c.2567C>G (p.S856C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.171642866G>C" "" "VUS" "" "0000518496" "0" "50" "3" "171321041" "171321041" "subst" "0.000260368" "02325" "PLD1_000004" "g.171321041C>T" "" "" "" "PLD1(NM_002662.5):c.3052G>A (p.D1018N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.171603251C>T" "" "VUS" "" "0000518497" "0" "10" "3" "171452701" "171452701" "subst" "0.00265927" "02325" "PLD1_000005" "g.171452701C>T" "" "" "" "PLD1(NM_002662.5):c.494G>A (p.R165H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.171734911C>T" "" "benign" "" "0000608409" "0" "90" "3" "171362701" "171362701" "subst" "0" "02325" "PLD1_000006" "g.171362701T>A" "" "" "" "PLD1(NM_002662.5):c.2542A>T (p.R848*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.171644911T>A" "" "pathogenic" "" "0000608410" "0" "90" "3" "171392328" "171392328" "subst" "1.21991E-5" "02325" "PLD1_000007" "g.171392328T>A" "" "" "" "PLD1(NM_002662.5):c.2191A>T (p.R731*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.171674538T>A" "" "pathogenic" "" "0000608411" "0" "50" "3" "171417591" "171417591" "subst" "3.65848E-5" "02327" "PLD1_000008" "g.171417591G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.171699801G>A" "" "VUS" "" "0000608412" "0" "50" "3" "171426605" "171426605" "subst" "8.12704E-6" "02327" "PLD1_000009" "g.171426605A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.171708815A>G" "" "VUS" "" "0000654845" "0" "90" "3" "171377017" "171377017" "del" "0" "02325" "PLD1_000003" "g.171377017del" "" "" "" "PLD1(NM_002662.5):c.2416delC (p.L806*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.171659227del" "" "pathogenic" "" "0000654846" "0" "90" "3" "171431702" "171431702" "subst" "4.06365E-5" "02325" "PLD1_000010" "g.171431702G>A" "" "" "" "PLD1(NM_002662.5):c.892C>T (p.R298*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.171713912G>A" "" "pathogenic" "" "0000667969" "3" "90" "3" "171410135" "171410135" "subst" "0" "00006" "PLD1_000011" "g.171410135T>G" "" "{PMID:Ta-Shma 2017:27799408}" "" "A1325C" "" "Germline" "yes" "" "0" "" "" "g.171692345T>G" "" "pathogenic (recessive)" "" "0000667970" "3" "90" "3" "171406522" "171406523" "del" "0" "00006" "PLD1_000012" "g.171406522_171406523del" "" "{PMID:Ta-Shma 2017:27799408}" "" "" "" "Germline" "yes" "" "0" "" "" "g.171688732_171688733del" "" "pathogenic (recessive)" "" "0000667971" "3" "90" "3" "171394537" "171394537" "subst" "3.25124E-5" "00006" "PLD1_000014" "g.171394537G>A" "" "Lahrouchi ESHG2020 C05.3" "" "R695C" "" "Germline" "" "" "0" "" "" "g.171676747G>A" "" "pathogenic (recessive)" "" "0000667972" "11" "90" "3" "171330222" "171330222" "subst" "0" "00006" "PLD1_000015" "g.171330222C>A" "" "Lahrouchi ESHG2020 C05.3" "" "G910V" "" "Germline" "" "" "0" "" "" "g.171612432C>A" "" "pathogenic (recessive)" "" "0000667973" "11" "90" "3" "171455826" "171455826" "subst" "0.000233112" "00006" "PLD1_000017" "g.171455826C>T" "" "Lahrouchi ESHG2020 C05.3" "" "E6K" "" "Germline" "" "" "0" "" "" "g.171738036C>T" "" "pathogenic (recessive)" "" "0000667974" "11" "90" "3" "171417591" "171417591" "subst" "3.65848E-5" "00006" "PLD1_000008" "g.171417591G>A" "" "Lahrouchi ESHG2020 C05.3" "" "R391C" "" "Germline" "" "" "0" "" "" "g.171699801G>A" "" "pathogenic (recessive)" "" "0000667975" "11" "90" "3" "171323205" "171323205" "del" "0" "00006" "PLD1_000000" "g.(171323205del)" "" "Lahrouchi ESHG2020 C05.3" "" "V962Ffs*" "Variant Error [ESYNTAX]: This genomic variant has an error (char 25: expected one of \')\', \'_\', or a digit). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.(171605415del)" "" "pathogenic (recessive)" "" "0000667976" "11" "90" "3" "171392289" "171417617" "dup" "0" "00006" "PLD1_000021" "g.(171379952_171392289)_(171417617_171426544)dup" "" "Lahrouchi ESHG2020 C05.3" "" "dup ex12-19" "" "Germline" "" "" "0" "" "" "g.(171662162_171674499)_(171699827_171708754)dup" "" "pathogenic (recessive)" "" "0000667977" "3" "90" "3" "171394618" "171394618" "subst" "0.000970146" "00006" "PLD1_000034" "g.171394618T>A" "" "Lahrouchi ESHG2020 C05.3" "" "I668F" "" "Germline" "" "" "0" "" "" "g.171676828T>A" "" "pathogenic (recessive)" "" "0000667978" "3" "90" "3" "171394618" "171394618" "subst" "0.000970146" "00006" "PLD1_000034" "g.171394618T>A" "" "Lahrouchi ESHG2020 C05.3" "" "I668F" "" "Germline" "" "" "0" "" "" "g.171676828T>A" "" "pathogenic (recessive)" "" "0000667979" "3" "90" "3" "171394618" "171394618" "subst" "0.000970146" "00006" "PLD1_000034" "g.171394618T>A" "" "Lahrouchi ESHG2020 C05.3" "" "I668F" "" "Germline" "" 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"g.171394596C>T" "" "Lahrouchi ESHG2020 C05.3" "" "R675Q" "" "Germline" "" "" "0" "" "" "g.171676806C>T" "" "pathogenic (recessive)" "" "0000667989" "11" "90" "3" "171406522" "171406523" "del" "0" "00006" "PLD1_000012" "g.171406522_171406523del" "" "{PMID:Ta-Shma 2017:27799408}" "" "" "" "Germline" "yes" "" "0" "" "" "g.171688732_171688733del" "" "pathogenic (recessive)" "" "0000667990" "21" "90" "3" "171330067" "171330067" "subst" "0" "00006" "PLD1_000013" "g.171330067A>G" "" "{PMID:Ta-Shma 2017:27799408}" "" "" "" "Germline" "" "" "0" "" "" "g.171612277A>G" "" "pathogenic (recessive)" "" "0000667991" "21" "90" "3" "171362767" "171362767" "" "0" "00006" "PLD1_000016" "g.171362767C>K" "" "Lahrouchi ESHG2020 C05.3" "" "G826R" "" "Germline" "" "" "0" "" "" "g.171644977C>K" "" "pathogenic (recessive)" "" "0000667992" "21" "90" "3" "171392385" "171392385" "subst" "4.94711E-5" "00006" "PLD1_000018" "g.171392385G>A" "" "Lahrouchi ESHG2020 C05.3" "" "R712W" "" "Germline" "" "" "0" "" "" "g.171674595G>A" "" "pathogenic (recessive)" "" "0000667993" "21" "90" "3" "171426605" "171426605" "subst" "8.12704E-6" "00006" "PLD1_000009" "g.171426605A>G" "" "Lahrouchi ESHG2020 C05.3" "" "F362S" "" "Germline" "" "" "0" "" "" "g.171708815A>G" "" "pathogenic (recessive)" "" "0000667994" "21" "90" "3" "171406614" "171406614" "subst" "0" "00006" "PLD1_000019" "g.171406614T>C" "" "Lahrouchi ESHG2020 C05.3" "" "H464R" "" "Germline" "" "" "0" "" "" "g.171688824T>C" "" "pathogenic (recessive)" "" "0000667995" "21" "90" "3" "171320951" "171320951" "subst" "0" "00006" "PLD1_000020" "g.171320951G>C" "" "Lahrouchi ESHG2020 C05.3" "" "P1048A" "" "Germline" "" "" "0" "" "" "g.171603161G>C" "" "pathogenic (recessive)" "" "0000667996" "21" "90" "3" "171379954" "171379954" "subst" "5.29644E-5" "00006" "PLD1_000023" "g.171379954G>A" "" "Lahrouchi ESHG2020 C05.3" "" "R746C" "" "Germline" "" "" "0" "" "" "g.171662164G>A" "" "pathogenic (recessive)" "" "0000668001" "21" "90" "3" "171394522" "171394522" "subst" "6.50274E-5" "00006" "PLD1_000025" "g.171394522G>A" "" "Lahrouchi ESHG2020 C05.3" "" "R700C" "" "Germline" "" "" "0" "" "" "g.171676732G>A" "" "pathogenic (recessive)" "" "0000668002" "21" "90" "3" "171442535" "171442535" "subst" "0.000912476" "00006" "PLD1_000027" "g.171442535C>A" "" "Lahrouchi ESHG2020 C05.3" "" "G237C" "" "Germline" "" "" "0" "" "" "g.171724745C>A" "" "pathogenic (recessive)" "" "0000668003" "21" "90" "3" "171394522" "171394522" "subst" "6.50274E-5" "00006" "PLD1_000025" "g.171394522G>A" "" "Lahrouchi ESHG2020 C05.3" "" "R700C" "" "Germline" "" "" "0" "" "" "g.171676732G>A" "" "pathogenic (recessive)" "" "0000668004" "21" "90" "3" "171426628" "171426628" "" "0" "00006" "PLD1_000028" "g.171426628^171427350C>T" "" "Lahrouchi ESHG2020 C05.3" "" "W354Ter" "" "Germline" "" "" "0" "" "" "g.171708838^171709560C>T" "" "pathogenic (recessive)" "" "0000668005" "21" "90" "3" "171377017" "171377017" "del" "0" "00006" "PLD1_000003" "g.171377017del" "" "Lahrouchi ESHG2020 C05.3" "" "Leu806fs*0" "" "Germline" "" "" "0" "" "" "g.171659227del" "" "pathogenic (recessive)" "" "0000668006" "21" "90" "3" "171406602" "171406602" "subst" "2.43738E-5" "00006" "PLD1_000030" "g.171406602A>T" "" "Lahrouchi ESHG2020 C05.3" "" "V468D" "" "Germline" "" "" "0" "" "" "g.171688812A>T" "" "pathogenic (recessive)" "" "0000668007" "21" "90" "3" "171362700" "171362700" "subst" "0" "00006" "PLD1_000031" "g.171362700C>G" "" "Lahrouchi ESHG2020 C05.3" "" "R848T" "" "Germline" "" "" "0" "" "" "g.171644910C>G" "" "pathogenic (recessive)" "" "0000688982" "0" "50" "3" "171330084" "171330084" "subst" "3.25148E-5" "02325" "PLD1_000032" "g.171330084C>T" "" "" "" "PLD1(NM_002662.5):c.2867G>A (p.R956Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688983" "0" "50" "3" "171431828" "171431830" "del" "0" "02325" "PLD1_000033" "g.171431828_171431830del" "" "" "" "PLD1(NM_002662.5):c.766_768delATA (p.I256del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719278" "0" "50" "3" "171442535" "171442535" "subst" "0.000912476" "02325" "PLD1_000027" "g.171442535C>A" "" "" "" "PLD1(NM_002662.5):c.709G>T (p.G237C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885625" "0" "90" "3" "171395485" "171395485" "subst" "0" "02329" "PLD1_000036" "g.171395485C>A" "" "" "" "PLD1(NM_002662.5):c.1868-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000959478" "3" "70" "3" "171394537" "171394537" "subst" "3.25124E-5" "01164" "PLD1_000014" "g.171394537G>A" "" "PMID:33645542: found in homoz state in 2 affected from one consanguinous family, enzyme acticity 0% compared to WT" "" "" "ACMG: PS3, PM3, PM2_SUP" "Germline" "-" "" "0" "" "" "g.171676747G>A" "VCV000992859.1" "likely pathogenic (recessive)" "ACMG" "0001013840" "0" "30" "3" "171360618" "171360618" "subst" "1.37825E-5" "02329" "PLD1_000038" "g.171360618G>A" "" "" "" "PLD1(NM_002662.5):c.2593+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051572" "0" "10" "3" "171320907" "171320907" "subst" "0.0174481" "01804" "PLD1_000039" "g.171320907C>T" "" "" "" "PLD1(NM_002662.5):c.3186G>A (p.(Gly1062=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001051573" "0" "30" "3" "171405198" "171405198" "subst" "0.00021536" "01804" "PLD1_000040" "g.171405198G>A" "" "" "" "PLD1(NM_002662.5):c.1716C>T (p.(His572=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051574" "0" "30" "3" "171417570" "171417570" "subst" "0.00347784" "01804" "PLD1_000037" "g.171417570G>A" "" "" "" "PLD1(NM_002662.5):c.1192C>T (p.(Arg398Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051575" "0" "30" "3" "171455461" "171455461" "del" "0" "01804" "PLD1_000041" "g.171455461del" "" "" "" "PLD1(NM_002662.5):c.161-3del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PLD1 ## Count = 55 "{{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}}" "0000305841" "00016314" "30" "195" "0" "195" "0" "c.195A>G" "r.(?)" "p.(Gln65=)" "" "0000305842" "00016314" "50" "2567" "0" "2567" "0" "c.2567C>G" "r.(?)" "p.(Ser856Cys)" "" "0000518496" "00016314" "50" "3052" "0" "3052" "0" "c.3052G>A" "r.(?)" "p.(Asp1018Asn)" "" "0000518497" "00016314" "10" "494" "0" "494" "0" "c.494G>A" "r.(?)" "p.(Arg165His)" "" "0000608409" "00016314" "90" "2542" "0" "2542" "0" "c.2542A>T" "r.(?)" "p.(Arg848Ter)" "" "0000608410" "00016314" "90" "2191" "0" "2191" "0" "c.2191A>T" "r.(?)" "p.(Arg731Ter)" "" "0000608411" "00016314" "50" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Arg391Cys)" "" "0000608412" "00016314" "50" "1085" "0" "1085" "0" "c.1085T>C" "r.(?)" "p.(Phe362Ser)" "" "0000654845" "00016314" "90" "2416" "0" "2416" "0" "c.2416del" "r.(?)" "p.(Leu806Ter)" "" "0000654846" "00016314" "90" "892" "0" "892" "0" "c.892C>T" "r.(?)" "p.(Arg298Ter)" "" "0000667969" "00016314" "90" "1325" "0" "1325" "0" "c.1325A>C" "r.(?)" "p.(His442Pro)" "" "0000667970" "00016314" "90" "1484" "0" "1485" "0" "c.1484_1485del" "r.(?)" "p.(Thr495Argfs*33)" "" "0000667971" "00016314" "90" "2083" "0" "2083" "0" "c.2083C>T" "r.(?)" "p.(Arg695Cys)" "" "0000667972" "00016314" "90" "2729" "0" "2729" "0" "c.2729G>T" "r.(?)" "p.(Gly910Val)" "" "0000667973" "00016314" "90" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Glu6Lys)" "" "0000667974" "00016314" "90" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Arg391Cys)" "" "0000667975" "00016314" "90" "2884" "0" "2884" "0" "c.(2884del)" "r.(?)" "p.(Val962Leufs*17)" "" "0000667976" "00016314" "90" "1146" "-1" "2229" "1" "c.(1145+1_1146-1)_(2229+1_2239-1)dup" "r.?" "p.?" "11i_19i" "0000667977" "00016314" "90" "2002" "0" "2002" "0" "c.2002A>T" "r.(?)" "p.(Ile668Phe)" "" "0000667978" "00016314" "90" "2002" "0" "2002" "0" "c.2002A>T" "r.(?)" "p.(Ile668Phe)" "" "0000667979" "00016314" "90" "2002" "0" "2002" "0" "c.2002A>T" "r.(?)" "p.(Ile668Phe)" "" "0000667980" "00016314" "90" "2452" "0" "2452" "0" "c.2452T>C" "r.(?)" "p.(Tyr818His)" "" "0000667981" "00016314" "90" "2002" "0" "2002" "0" "c.2002A>T" "r.(?)" "p.(Ile668Phe)" "" "0000667982" "00016314" "90" "2023" "0" "2023" "0" "c.2023C>T" "r.(?)" "p.(Arg675Trp)" "" "0000667983" "00016314" "90" "868" "0" "868" "0" "c.868G>C" "r.(?)" "p.(Glu290Gln)" "" "0000667984" "00016314" "90" "2681" "0" "2681" "0" "c.2681A>C" "r.(?)" "p.(Tyr894Ser)" "" "0000667985" "00016314" "90" "2681" "0" "2681" "0" "c.2681A>C" "r.(?)" "p.(Tyr894Ser)" "" "0000667986" "00016314" "90" "892" "0" "892" "0" "c.892C>T" "r.(?)" "p.(Arg298*)" "" "0000667987" "00016314" "90" "2191" "0" "2191" "0" "c.2191A>T" "r.(?)" "p.(Arg731*)" "" "0000667988" "00016314" "90" "2024" "0" "2024" "0" "c.2024G>A" "r.(?)" "p.(Arg675Gln)" "" "0000667989" "00016314" "90" "1484" "0" "1485" "0" "c.1484_1485del" "r.(?)" "p.(Thr495Argfs*33)" "" "0000667990" "00016314" "90" "2882" "2" "2882" "2" "c.2882+2T>C" "r.spl" "p.?" "" "0000667991" "00016314" "90" "2476" "0" "2476" "0" "c.2476G>M" "r.(?)" "p.(Gly826Arg)" "" "0000667992" "00016314" "90" "2134" "0" "2134" "0" "c.2134C>T" "r.(?)" "p.(Arg712Trp)" "" "0000667993" "00016314" "90" "1085" "0" "1085" "0" "c.1085T>C" "r.(?)" "p.(Phe362Ser)" "" "0000667994" "00016314" "90" "1391" "0" "1391" "0" "c.1391A>G" "r.(?)" "p.(His464Arg)" "" "0000667995" "00016314" "90" "3142" "0" "3142" "0" "c.3142C>G" "r.(?)" "p.(Pro1048Ala)" "" "0000667996" "00016314" "90" "2236" "0" "2236" "0" "c.2236C>T" "r.(?)" "p.(Arg746Cys)" "" "0000668001" "00016314" "90" "2098" "0" "2098" "0" "c.2098C>T" "r.(?)" "p.(Arg700Cys)" "" "0000668002" "00016314" "90" "709" "0" "709" "0" "c.709G>T" "r.(?)" "p.(Gly237Cys)" "" "0000668003" "00016314" "90" "2098" "0" "2098" "0" "c.2098C>T" "r.(?)" "p.(Arg700Cys)" "" "0000668004" "00016314" "90" "1061" "0" "1061" "0" "c.1061^1062G>A" "r.spl?" "p.(Trp354*)" "" "0000668005" "00016314" "90" "2416" "0" "2416" "0" "c.2416del" "r.(?)" "p.(Leu806*)" "" "0000668006" "00016314" "90" "1403" "0" "1403" "0" "c.1403T>A" "r.(?)" "p.(Val468Asp)" "" "0000668007" "00016314" "90" "2543" "0" "2543" "0" "c.2543G>C" "r.spl?" "p.(Arg848Thr)" "" "0000688982" "00016314" "50" "2867" "0" "2867" "0" "c.2867G>A" "r.(?)" "p.(Arg956Gln)" "" "0000688983" "00016314" "50" "766" "0" "768" "0" "c.766_768del" "r.(?)" "p.(Ile256del)" "" "0000719278" "00016314" "50" "709" "0" "709" "0" "c.709G>T" "r.(?)" "p.(Gly237Cys)" "" "0000885625" "00016314" "90" "1868" "-1" "1868" "-1" "c.1868-1G>T" "r.spl?" "p.?" "" "0000959478" "00016314" "70" "2083" "0" "2083" "0" "c.2083C>T" "r.(?)" "p.(Arg695Cys)" "" "0001013840" "00016314" "30" "2593" "12" "2593" "12" "c.2593+12C>T" "r.(=)" "p.(=)" "" "0001051572" "00016314" "10" "3186" "0" "3186" "0" "c.3186G>A" "r.(?)" "p.(=)" "" "0001051573" "00016314" "30" "1716" "0" "1716" "0" "c.1716C>T" "r.(?)" "p.(=)" "" "0001051574" "00016314" "30" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Arg398Cys)" "" "0001051575" "00016314" "30" "161" "-3" "161" "-3" "c.161-3del" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 36 "{{screeningid}}" "{{variantid}}" "0000304518" "0000667969" "0000304519" "0000667970" "0000304520" "0000667971" "0000304521" "0000667972" "0000304521" "0000667991" "0000304522" "0000667973" "0000304522" "0000667992" "0000304523" "0000667974" "0000304523" "0000667993" "0000304524" "0000667975" "0000304524" "0000667994" "0000304525" "0000667976" "0000304525" "0000667995" "0000304526" "0000667977" "0000304527" "0000667978" "0000304528" "0000667979" "0000304529" "0000667980" "0000304530" "0000667981" "0000304530" "0000667996" "0000304531" "0000667982" "0000304531" "0000668001" "0000304532" "0000667983" "0000304532" "0000668002" "0000304533" "0000667984" "0000304533" "0000668003" "0000304534" "0000667985" "0000304534" "0000668004" "0000304535" "0000667986" "0000304535" "0000668005" "0000304536" "0000667987" "0000304536" "0000668007" "0000304537" "0000667988" "0000304537" "0000668006" "0000304538" "0000667989" "0000304538" "0000667990" "0000449306" "0000959478"