### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PPFIA3) # 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}}" "PPFIA3" "protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3" "19" "" "unknown" "NC_000019.9" "UD_132465593890" "" "https://www.LOVD.nl/PPFIA3" "" "1" "9247" "8541" "603144" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-01-04 21:20:59" "00000" "2026-01-20 18:57:21" ## 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}}" "00016609" "PPFIA3" "protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3" "001" "NM_003660.2" "" "NP_003651.1" "" "" "" "-332" "4389" "3585" "49622663" "49654283" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PPFIA3" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 20 "{{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}}" "00445147" "" "" "" "1" "" "00006" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" ">16y" "0" "" "" "white" "Fam1Pat1" "00445148" "" "" "" "1" "" "00006" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" ">13y" "0" "" "" "" "Fam2Pat2" "00445149" "" "" "" "1" "" "00006" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "2-generation family, 1 affected, unaffected non-carrier mother" "F" "" "" ">22y" "0" "" "" "white" "Fam3Pat3" "00445150" "" "" "" "1" "" "00006" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "2-generation family, 1 affected" "F" "" "" ">1y10m" "0" "" "" "white" "Fam4Pat4" "00445151" "" "" "" "1" "" "00006" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "2-generation family, affected, mother/daughter" "F" "" "" ">5y" "0" "" "" "white" "Fam5Pat5" "00445152" "" "" "" "1" "" "00006" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "mother" "F" "" "" ">35y" "0" "" "" "white" "Fam5Pat6" "00445153" "" "" "" "1" "" "00006" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "2-generation family, affected fetus, unaffected non-carrier parents" "F" "" "" "<0d" "0" "" "" "Latino" "Fam6Pat7" "00445154" "" "" "" "1" "" "00006" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" ">8y" "0" "" "" "Europe;Asia" "Fam7Pat8" "00445155" "" "" "" "1" "" "00006" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "2-generation family, 1 affected" "F" "" "" ">10y9m" "0" "" "" "Asia" "Fam8Pat9" "00445156" "" "" "" "1" "" "00006" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "2-generation family, affected fetus, unaffected non-carrier parents" "F" "" "" "<0d" "0" "" "" "white" "Fam9Pat10" "00445157" "" "" "" "1" "" "00006" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Syria" ">6y11m" "0" "" "" "Asia" "Fam10Pat11" "00445158" "" "" "" "1" "" "00006" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" ">11y" "0" "" "" "white" "Fam11Pat12" "00445159" "" "" "" "1" "" "00006" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" ">16y" "0" "" "" "white" "Fam12Pat13" "00445160" "" "" "" "1" "" "00006" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "2-generation family, affected monozygotic twins, unaffected non-carrier parents" "F" "" "" ">5y" "0" "" "" "white" "Fam13Pat14" "00445161" "" "" "" "1" "" "00006" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "twin" "F" "" "" ">5y" "0" "" "" "white" "Fam13Pat15" "00445162" "" "" "" "1" "" "00006" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "2-generation family, 1 affected" "M" "" "" ">23y" "0" "" "" "white" "Fam14Pat16" "00445163" "" "" "" "1" "" "00006" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" ">13y11m" "0" "" "" "white" "Fam15Pat17" "00445164" "" "" "" "1" "" "00006" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "2-generation family, 1 affected" "F" "" "" ">9y9m" "0" "" "" "white" "Fam16Pat18" "00445165" "" "" "" "1" "" "00006" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "2-generation family, affected mother/daughter, unaffected non-carrier parents" "M" "" "" ">7y8m" "0" "" "" "white" "Fam17Pat19" "00445166" "" "" "" "1" "" "00006" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "2-generation family, 1 affected, unaffected carrier parents" "M" "" "" ">9y" "0" "" "" "white" "Fam18Pat20" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00445147" "05611" "00445148" "05611" "00445149" "05611" "00445150" "05611" "00445151" "05611" "00445152" "05611" "00445153" "05611" "00445154" "05611" "00445155" "05611" "00445156" "05611" "00445157" "05611" "00445158" "05611" "00445159" "05611" "00445160" "05611" "00445161" "05611" "00445162" "05611" "00445163" "05611" "00445164" "05611" "00445165" "05611" "00445166" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611 ## Count = 20 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000334401" "05611" "00445147" "00006" "Isolated (sporadic)" "16y" "see paper; ...; EEG abnormal; no autism, no autistic features; global delayed development, intellectual disability, epilepsy, strabismus, hypotonia, hyperreflexia, short stature, self-injurious behaviors, aggression, dysmorphisms" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000334402" "05611" "00445148" "00006" "Isolated (sporadic)" "13y" "see paper; ...; EEG abnormal; no autism, no autistic features; delayed development, intellectual disability, epilepsy, strabismus, 27m-right cryptorchidism with orchiopexy, wide-based gait, dysarthric speech, dysmorphisms, abnormal MRI brain findings" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000334403" "05611" "00445149" "00006" "Unknown" "22y" "see paper; ...; EEG abnormal; no autism, no autistic features; global developmental delay, spastic diplegic cerebral palsy, epilepsy, ataxic gait, dysarthria, urinary incontinence, scoliosis, facial dysmorphism; anterior pituitary insufficiency (most likely of ischemic origin) with central hypothyroidism, growth hormone deficiency with short stature, secondary adrenocortical insufficiency, hypogonadotropic hypogonadism, delayed puberty" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000334404" "05611" "00445150" "00006" "Unknown" "1y10m" "see paper; ...; no epilepsy; global developmental delays, dysarthria, autistic features, hypotonia, astigmatism, constipation, dysmorphisms" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000334405" "05611" "00445151" "00006" "Familial, autosomal dominant" "5y" "see paper; ...; no epilepsy; no autism, no autistic features; global delayed development, intellectual disability, hyperreflexia, microcephaly (-3 SD), strabismus, facial features" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000334406" "05611" "00445152" "00006" "Unknown" "35y" "see paper; ...; no epilepsy; microcephaly (-2 SD), hyperthyroidism, history of miscarriages, intellectual disability" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000334407" "05611" "00445153" "00006" "Isolated (sporadic)" "<0d" "see paper; ..., deceased neonatally, genitourinary malformations, microcephaly, hypoglycemia, hydronephrosis, renal failure, newborn sepsis, feeding difficulties, dysmorphisms including anorectal malformations, absent bladder, bilateral cystic renal dysplasia, cloacal anomaly, anal atresia, ambiguous genitalia" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000334408" "05611" "00445154" "00006" "Isolated (sporadic)" "8y" "see paper; ...; EEG abnormal; epilepsy; severe global delayed development, severe intellectual disability, macrocephaly, medically refractory epilepsy, dysmorphisms, dysarthria, dysphagia, congenital hypotonia, gastroesophageal reflux disease, constipation, motor stereotypies, mild tremor, infantile exotropia, delayed visual maturation, persistent sialorrhea, hydronephrosis, recurrent UTI’s, frequent pneumonia" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000334409" "05611" "00445155" "00006" "Unknown" "10y9m" "see paper; ...; EEG abnormal; autistic features; dysmorphisms; intellectual disability, global delayed development, epilepsy, hypomimia, weak/absent cry, autistic features, nonverbal, nonambulatory, hypertonia, incontinence, strabismus, gastroesophageal reflux disease" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000334410" "05611" "00445156" "00006" "Isolated (sporadic)" "" "see paper; ..., 27wg-fetus elective pregnancy termination, abnormal brain gyration, ventriculomegaly with a heart defect (thin aorta, left ventricle larger than right ventricle) ; esophageal atresia with esophago-tracheal fistula" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000334411" "05611" "00445157" "00006" "Isolated (sporadic)" "6y11m" "see paper; ...; no epilepsy; autistic features improved over last few years; global delayed development, intellectual disability, mild dysmorphism" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000334412" "05611" "00445158" "00006" "Isolated (sporadic)" "11y" "see paper; ...; EEG normal; no epilepsy; no dysmorphisms; global delayed development, intellectual disability, autism spectrum disorder, motor stereotypies, Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections, hematuria" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000334413" "05611" "00445159" "00006" "Isolated (sporadic)" "16y" "see paper; ...; EEG abnormal; no autism, no autistic features; no dysmorphisms; intellectual disability, epilepsy, Landau Kleffner syndrome mild speech, constipation, thoracolumbar scoliosis, social delay" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000334414" "05611" "00445160" "00006" "Isolated (sporadic)" "5y" "see paper; ...; no epilepsy; no dysmorphisms; speech delay, social delay, microcephaly, nonverbal, autism, mixed receptive-expressive language disorder, constipation, anxiety" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000334415" "05611" "00445161" "00006" "Isolated (sporadic)" "5y" "see paper; ...; no epilepsy; no autism, no autistic features; no dysmorphisms; gross motor delay, speech delay, speech apraxia, hypotonia, receptive-expressive language disorder, plagiocephaly, microcephaly, torticollis, constipation, migraines, motor apraxia, difficulty with depth perception" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000334416" "05611" "00445162" "00006" "Unknown" "23y" "see paper; ...; global developmental delay, intellectual disability, hypotonia, autistic features, motor delay, motor incoordination, speech delay, hypermetropic, monocular exotropia, ADHD" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000334417" "05611" "00445163" "00006" "Isolated (sporadic)" "13y11m" "see paper; ...; EEG abnormal; no epilepsy; global developmental delay, intellectual disability, speech delay, macrocephaly, dysarthria, hypotonia, autism, astigmatism, dysmorphisms" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000334418" "05611" "00445164" "00006" "Unknown" "9y9m" "see paper; ...; EEG abnormal; no epilepsy; no autism, no autistic features; global delayed development, impulsive behavior, delayed speech, hypotonia, dysmorphisms including bilateral epicanthus vanished over years, right ear slightly different from left ear, protruding bilateral costal arch" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000334419" "05611" "00445165" "00006" "Familial, autosomal dominant" "7y8m" "see paper; ...; EEG normal; no epilepsy; dysmorphisms; delayed attainment of developmental milestones, intellectual disability, speech delay, dysarthria, hypotonia, microcephaly, bilateral clinodactyly" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000334420" "05611" "00445166" "00006" "Unknown" "9y" "see paper; ...; EEG abnormal; severe global developmental delay, intellectual disability, dystonic diplegia, dysarthria, hypotonia, epilepsy, dysmorphisms, microcephaly, autistic features, severe emotional lability, ataxic gait, lower limb hypertonia, strabismus, exotropia" "" "" "" "" "" "" "" "neurodevelopmental delay" ## Screenings ## Do not remove or alter this header ## ## Count = 20 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000446718" "00445147" "1" "00006" "00006" "2024-01-05 10:36:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446719" "00445148" "1" "00006" "00006" "2024-01-05 10:36:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446720" "00445149" "1" "00006" "00006" "2024-01-05 10:36:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446721" "00445150" "1" "00006" "00006" "2024-01-05 10:36:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446722" "00445151" "1" "00006" "00006" "2024-01-05 10:36:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446723" "00445152" "1" "00006" "00006" "2024-01-05 10:36:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446724" "00445153" "1" "00006" "00006" "2024-01-05 10:36:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446725" "00445154" "1" "00006" "00006" "2024-01-05 10:36:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446726" "00445155" "1" "00006" "00006" "2024-01-05 10:36:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446727" "00445156" "1" "00006" "00006" "2024-01-05 10:36:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446728" "00445157" "1" "00006" "00006" "2024-01-05 10:36:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446729" "00445158" "1" "00006" "00006" "2024-01-05 10:36:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446730" "00445159" "1" "00006" "00006" "2024-01-05 10:36:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446731" "00445160" "1" "00006" "00006" "2024-01-05 10:36:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446732" "00445161" "1" "00006" "00006" "2024-01-05 10:36:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446733" "00445162" "1" "00006" "00006" "2024-01-05 10:36:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446734" "00445163" "1" "00006" "00006" "2024-01-05 10:36:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446735" "00445164" "1" "00006" "00006" "2024-01-05 10:36:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446736" "00445165" "1" "00006" "00006" "2024-01-05 10:36:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446737" "00445166" "1" "00006" "00006" "2024-01-05 10:36:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 38 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000326690" "0" "50" "19" "49622158" "49622158" "subst" "0.000136334" "01804" "C19orf73_000001" "g.49622158C>T" "" "" "" "C19orf73(NM_018111.2):c.122G>A (p.(Arg41Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49118901C>T" "" "VUS" "" "0000326692" "0" "50" "19" "49657619" "49657619" "subst" "0" "01804" "HRC_000002" "g.49657619G>T" "" "" "" "HRC(NM_002152.2):c.876C>A (p.(Asp292Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49154362G>T" "" "VUS" "" "0000326693" "0" "50" "19" "49657751" "49657753" "dup" "0" "01804" "HRC_000003" "g.49657751_49657753dup" "" "" "" "HRC(NM_002152.2):c.782_784dup (p.(Asp261dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49154494_49154496dup" "" "VUS" "" "0000326695" "0" "50" "19" "49657742" "49657753" "del" "0" "01804" "HRC_000004" "g.49657742_49657753del" "" "" "" "HRC(NM_002152.2):c.773_784del (p.(Asp258_Asp261del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49154485_49154496del" "" "VUS" "" "0000326696" "0" "50" "19" "49657739" "49657753" "del" "0" "01804" "HRC_000005" "g.49657739_49657753del" "" "" "" "HRC(NM_002152.2):c.770_784del (p.(Asp257_Asp261del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49154482_49154496del" "" "VUS" "" "0000326697" "0" "50" "19" "49657751" "49657753" "del" "0" "01804" "HRC_000007" "g.49657751_49657753del" "" "" "" "HRC(NM_002152.2):c.779_781del (p.(Asp261del)), HRC(NM_002152.3):c.782_784delATG (p.D261del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49154494_49154496del" "" "VUS" "" "0000326699" "0" "50" "19" "49657754" "49657754" "subst" "0" "01804" "HRC_000010" "g.49657754G>T" "" "" "" "HRC(NM_002152.2):c.741C>A (p.(Asp247Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49154497G>T" "" "VUS" "" "0000326700" "0" "50" "19" "49657757" "49657757" "subst" "0" "01804" "HRC_000011" "g.49657757A>T" "" "" "" "HRC(NM_002152.2):c.738T>A (p.(Asp246Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49154500A>T" "" "VUS" "" "0000326702" "0" "50" "19" "49657765" "49657765" "subst" "0" "01804" "HRC_000012" "g.49657765C>T" "" "" "" "HRC(NM_002152.2):c.730G>A (p.(Glu244Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49154508C>T" "" "VUS" "" "0000326703" "0" "50" "19" "49657773" "49657773" "subst" "0" "01804" "HRC_000013" "g.49657773T>C" "" "" "" "HRC(NM_002152.2):c.722A>G (p.(Gln241Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49154516T>C" "" "VUS" "" "0000326704" "0" "50" "19" "49657792" "49657792" "subst" "0" "01804" "HRC_000014" "g.49657792C>T" "" "" "" "HRC(NM_002152.2):c.703G>A (p.(Gly235Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49154535C>T" "" "VUS" "" "0000326705" "0" "50" "19" "49657806" "49657806" "subst" "8.41673E-6" "01804" "HRC_000015" "g.49657806C>T" "" "" "" "HRC(NM_002152.2):c.689G>A (p.(Gly230Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49154549C>T" "" "VUS" "" "0000567958" "0" "50" "19" "49657603" "49657603" "subst" "4.50214E-5" "01804" "HRC_000017" "g.49657603G>A" "" "" "" "HRC(NM_002152.2):c.892C>T (p.(Arg298Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49154346G>A" "" "VUS" "" "0000915272" "0" "10" "19" "49657751" "49657753" "del" "0" "02326" "HRC_000006" "g.49657751_49657753del" "" "" "" "HRC(NM_002152.2):c.779_781del (p.(Asp261del)), HRC(NM_002152.3):c.782_784delATG (p.D261del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000955077" "0" "70" "19" "49631245" "49631245" "subst" "0" "00006" "PPFIA3_000002" "g.49631245C>T" "" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "" "" "" "De novo" "" "" "0" "" "" "g.49127988C>T" "" "likely pathogenic (dominant)" "" "0000955078" "0" "70" "19" "49631245" "49631245" "subst" "0" "00006" "PPFIA3_000002" "g.49631245C>T" "" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "" "" "" "De novo" "" "" "0" "" "" "g.49127988C>T" "" "likely pathogenic (dominant)" "" "0000955079" "0" "70" "19" "49631248" "49631248" "subst" "0" "00006" "PPFIA3_000003" "g.49631248G>A" "" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "" "" "father not available" "Germline/De novo (untested)" "" "" "0" "" "" "g.49127991G>A" "" "likely pathogenic (dominant)" "" "0000955080" "0" "70" "19" "49631369" "49631369" "subst" "0" "00006" "PPFIA3_000004" "g.49631369A>C" "" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49128112A>C" "" "likely pathogenic (dominant)" "" "0000955081" "21" "70" "19" "49631371" "49631371" "subst" "0" "00006" "PPFIA3_000005" "g.49631371G>A" "" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "" "" "" "Germline" "" "" "0" "" "" "g.49128114G>A" "" "likely pathogenic (dominant)" "" "0000955082" "0" "70" "19" "49631371" "49631371" "subst" "0" "00006" "PPFIA3_000005" "g.49631371G>A" "" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49128114G>A" "" "likely pathogenic (dominant)" "" "0000955083" "0" "70" "19" "49636321" "49636321" "subst" "0" "00006" "PPFIA3_000006" "g.49636321G>T" "" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "" "" "" "De novo" "" "" "0" "" "" "g.49133064G>T" "" "likely pathogenic (dominant)" "" "0000955084" "0" "70" "19" "49637134" "49637134" "subst" "0" "00006" "PPFIA3_000007" "g.49637134C>T" "" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "" "" "" "De novo" "" "" "0" "" "" "g.49133877C>T" "" "likely pathogenic (dominant)" "" "0000955085" "0" "70" "19" "49637134" "49637134" "subst" "0" "00006" "PPFIA3_000007" "g.49637134C>T" "" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49133877C>T" "" "likely pathogenic (dominant)" "" "0000955086" "0" "70" "19" "49637330" "49637330" "subst" "0" "00006" "PPFIA3_000008" "g.49637330C>T" "" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "" "" "variant 0.26 mosaic in sequence reads" "Somatic" "" "" "0" "" "" "g.49134073C>T" "" "likely pathogenic (dominant)" "" "0000955087" "0" "70" "19" "49638144" "49638144" "subst" "0" "00006" "PPFIA3_000009" "g.49638144C>T" "" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "" "" "" "De novo" "" "" "0" "" "" "g.49134887C>T" "" "likely pathogenic (dominant)" "" "0000955088" "0" "70" "19" "49639153" "49639153" "subst" "0" "00006" "PPFIA3_000010" "g.49639153G>T" "" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "" "" "" "De novo" "" "" "0" "" "" "g.49135896G>T" "" "likely pathogenic (dominant)" "" "0000955089" "0" "70" "19" "49643327" "49643327" "subst" "0" "00006" "PPFIA3_000012" "g.49643327C>T" "" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "" "" "" "De novo" "" "" "0" "" "" "g.49140070C>T" "" "likely pathogenic (dominant)" "" "0000955090" "0" "70" "19" "49646125" "49646125" "subst" "0" "00006" "PPFIA3_000014" "g.49646125T>A" "" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "" "" "" "De novo" "" "" "0" "" "" "g.49142868T>A" "" "likely pathogenic (dominant)" "" "0000955091" "0" "70" "19" "49646125" "49646125" "subst" "0" "00006" "PPFIA3_000014" "g.49646125T>A" "" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "" "" "" "De novo" "" "" "0" "" "" "g.49142868T>A" "" "likely pathogenic (dominant)" "" "0000955092" "0" "70" "19" "49646222" "49646222" "dup" "0" "00006" "PPFIA3_000015" "g.49646222dup" "" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49142965dup" "" "likely pathogenic (dominant)" "" "0000955093" "0" "70" "19" "49646233" "49646233" "subst" "0" "00006" "PPFIA3_000016" "g.49646233C>T" "" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "" "" "" "De novo" "" "" "0" "" "" "g.49142976C>T" "" "likely pathogenic (dominant)" "" "0000955094" "0" "70" "19" "49652535" "49652535" "del" "0" "00006" "PPFIA3_000017" "g.49652535del" "" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49149278del" "" "likely pathogenic (dominant)" "" "0000955095" "21" "70" "19" "49649199" "49654279" "del" "0" "00006" "PPFIA3_000001" "g.(49646262_49649199)_(49654279_?)del" "" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "" "del ex22-30" "" "Germline" "" "" "0" "" "" "g.(49143005_49145942)_(49151022_?)del" "" "likely pathogenic (dominant)" "" "0000955096" "21" "70" "19" "49644685" "49644685" "subst" "0.000736395" "00006" "PPFIA3_000013" "g.49644685C>A" "" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "" "" "inherited from unaffected parent" "Germline" "" "" "0" "" "" "g.49141428C>A" "" "likely pathogenic" "" "0000955097" "11" "70" "19" "49643253" "49643253" "subst" "5.27872E-5" "00006" "PPFIA3_000011" "g.49643253A>G" "" "{DOI:Paul 2024:10.1016/j.ajhg.2023.12.004}" "" "" "inherited from unaffected parent" "De novo" "" "" "0" "" "" "g.49139996A>G" "" "likely pathogenic" "" "0001043088" "0" "30" "19" "49633242" "49633242" "subst" "0" "01804" "PPFIA3_000018" "g.49633242A>T" "" "" "" "PPFIA3(NM_003660.4):c.583-8A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047496" "0" "70" "19" "49637137" "49637137" "del" "0" "03779" "PPFIA3_000019" "g.49637137del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001067243" "0" "30" "19" "49633675" "49633675" "subst" "2.98411E-5" "01804" "PPFIA3_000020" "g.49633675G>A" "" "" "" "PPFIA3(NM_003660.4):c.698G>A (p.(Arg233Gln))" "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 PPFIA3 ## Count = 38 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000326690" "00016609" "50" "-837" "0" "-837" "0" "c.-837C>T" "r.(?)" "p.(=)" "" "0000326692" "00016609" "50" "7725" "0" "7725" "0" "c.*4140G>T" "r.(=)" "p.(=)" "" "0000326693" "00016609" "50" "7857" "0" "7859" "0" "c.*4272_*4274dup" "r.(=)" "p.(=)" "" "0000326695" "00016609" "50" "7848" "0" "7859" "0" "c.*4263_*4274del" "r.(=)" "p.(=)" "" "0000326696" "00016609" "50" "7845" "0" "7859" "0" "c.*4260_*4274del" "r.(=)" "p.(=)" "" "0000326697" "00016609" "50" "7857" "0" "7859" "0" "c.*4272_*4274del" "r.(=)" "p.(=)" "" "0000326699" "00016609" "50" "7860" "0" "7860" "0" "c.*4275G>T" "r.(=)" "p.(=)" "" "0000326700" "00016609" "50" "7863" "0" "7863" "0" "c.*4278A>T" "r.(=)" "p.(=)" "" "0000326702" "00016609" "50" "7871" "0" "7871" "0" "c.*4286C>T" "r.(=)" "p.(=)" "" "0000326703" "00016609" "50" "7879" "0" "7879" "0" "c.*4294T>C" "r.(=)" "p.(=)" "" "0000326704" "00016609" "50" "7898" "0" "7898" "0" "c.*4313C>T" "r.(=)" "p.(=)" "" "0000326705" "00016609" "50" "7912" "0" "7912" "0" "c.*4327C>T" "r.(=)" "p.(=)" "" "0000567958" "00016609" "50" "7709" "0" "7709" "0" "c.*4124G>A" "r.(=)" "p.(=)" "" "0000915272" "00016609" "10" "7857" "0" "7859" "0" "c.*4272_*4274del" "r.(=)" "p.(=)" "" "0000955077" "00016609" "70" "115" "0" "115" "0" "c.115C>T" "r.(?)" "p.(Arg39Cys)" "" "0000955078" "00016609" "70" "115" "0" "115" "0" "c.115C>T" "r.(?)" "p.(Arg39Cys)" "" "0000955079" "00016609" "70" "118" "0" "118" "0" "c.118G>A" "r.(?)" "p.(Glu40Lys)" "" "0000955080" "00016609" "70" "239" "0" "239" "0" "c.239A>C" "r.(?)" "p.(Gln80Pro)" "" "0000955081" "00016609" "70" "240" "1" "240" "1" "c.240+1G>A" "r.spl" "p.?" "" "0000955082" "00016609" "70" "240" "1" "240" "1" "c.240+1G>A" "r.spl" "p.?" "" "0000955083" "00016609" "70" "943" "0" "943" "0" "c.943G>T" "r.(?)" "p.(Ala315Ser)" "" "0000955084" "00016609" "70" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(Arg415Trp)" "" "0000955085" "00016609" "70" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(Arg415Trp)" "" "0000955086" "00016609" "70" "1285" "0" "1285" "0" "c.1285C>T" "r.(?)" "p.(Arg429Trp)" "" "0000955087" "00016609" "70" "1492" "0" "1492" "0" "c.1492C>T" "r.(?)" "p.(Arg498Trp)" "" "0000955088" "00016609" "70" "1638" "0" "1638" "0" "c.1638G>T" "r.(?)" "p.(Trp546Cys)" "" "0000955089" "00016609" "70" "2350" "0" "2350" "0" "c.2350C>T" "r.(?)" "p.(Arg784Trp)" "" "0000955090" "00016609" "70" "2609" "0" "2609" "0" "c.2609T>A" "r.(?)" "p.(Ile870Asn)" "" "0000955091" "00016609" "70" "2609" "0" "2609" "0" "c.2609T>A" "r.(?)" "p.(Ile870Asn)" "" "0000955092" "00016609" "70" "2706" "0" "2706" "0" "c.2706dup" "r.(?)" "p.(Ser903LeufsTer86)" "" "0000955093" "00016609" "70" "2717" "0" "2717" "0" "c.2717C>T" "r.(?)" "p.(Ser906Leu)" "" "0000955094" "00016609" "70" "3307" "0" "3307" "0" "c.3307del" "r.(?)" "p.(Glu1103AsnfsTer8)" "" "0000955095" "00016609" "70" "0" "0" "0" "0" "c.(2745+1_2746-1)_*800{0}" "r.?" "p.?" "21i_30_" "0000955096" "00016609" "50" "2377" "0" "2377" "0" "c.2377C>A" "r.(?)" "p.(Pro793Thr)" "" "0000955097" "00016609" "50" "2276" "0" "2276" "0" "c.2276A>G" "r.(?)" "p.(Lys759Arg)" "" "0001043088" "00016609" "30" "583" "-8" "583" "-8" "c.583-8A>T" "r.(=)" "p.(=)" "" "0001047496" "00016609" "70" "1245" "1" "1245" "1" "c.1245+1del" "r.(?)" "p.(?)" "" "0001067243" "00016609" "30" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Arg233Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000446718" "0000955077" "0000446719" "0000955078" "0000446720" "0000955079" "0000446721" "0000955080" "0000446722" "0000955081" "0000446723" "0000955082" "0000446724" "0000955083" "0000446725" "0000955084" "0000446726" "0000955085" "0000446727" "0000955086" "0000446728" "0000955087" "0000446729" "0000955088" "0000446730" "0000955089" "0000446731" "0000955090" "0000446732" "0000955091" "0000446733" "0000955092" "0000446734" "0000955093" "0000446735" "0000955094" "0000446736" "0000955095" "0000446737" "0000955096" "0000446737" "0000955097"