### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = POU3F2) # 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}}" "POU3F2" "POU class 3 homeobox 2" "6" "q16.2" "unknown" "NC_000006.11" "UD_136090212661" "" "https://www.LOVD.nl/POU3F2" "" "1" "9215" "5454" "600494" "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/POU3F2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-08-15 15:33:06" "00000" "2025-02-07 18:57:27" ## 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}}" "00016572" "POU3F2" "POU class 3 homeobox 2" "001" "NM_005604.3" "" "NP_005595.2" "" "" "" "-170" "3917" "1332" "99282580" "99286666" "" "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}}" "POU3F2" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00436130" "" "" "" "2" "" "00006" "{PMID:Schonauer 2023:37207645}, {DOI:Schonauer 2023:10.1016/j.ajhg.2023.04.010}" "2-generation family, affected mother/son, unaffected non-carrier parents" "M" "" "Germany" "" "0" "" "" "" "Fam1Pat1" "00436131" "" "" "00436130" "1" "" "00006" "{PMID:Schonauer 2023:37207645}, {DOI:Schonauer 2023:10.1016/j.ajhg.2023.04.010}" "mother" "F" "" "Germany" "" "0" "" "" "" "Fam1Pat2" "00436132" "" "" "" "1" "" "00006" "{PMID:Schonauer 2023:37207645}, {DOI:Schonauer 2023:10.1016/j.ajhg.2023.04.010}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat2" "00436133" "" "" "" "1" "" "00006" "{PMID:Schonauer 2023:37207645}, {DOI:Schonauer 2023:10.1016/j.ajhg.2023.04.010}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat3" "00436134" "" "" "" "1" "" "00006" "{PMID:Schonauer 2023:37207645}, {DOI:Schonauer 2023:10.1016/j.ajhg.2023.04.010}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat4" "00436135" "" "" "" "2" "" "00006" "{PMID:Schonauer 2023:37207645}, {DOI:Schonauer 2023:10.1016/j.ajhg.2023.04.010}" "2-generation family, affected father/son, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Fam5Pat1" "00436136" "" "" "00436135" "1" "" "00006" "{PMID:Schonauer 2023:37207645}, {DOI:Schonauer 2023:10.1016/j.ajhg.2023.04.010}" "father" "M" "" "" "" "0" "" "" "" "Fam5Pat2" "00436137" "" "" "" "1" "" "00006" "{PMID:Schonauer 2023:37207645}, {DOI:Schonauer 2023:10.1016/j.ajhg.2023.04.010}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat6" "00436138" "" "" "" "1" "" "00006" "{PMID:Schonauer 2023:37207645}, {DOI:Schonauer 2023:10.1016/j.ajhg.2023.04.010}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat7" "00436139" "" "" "" "1" "" "00006" "{PMID:Schonauer 2023:37207645}, {DOI:Schonauer 2023:10.1016/j.ajhg.2023.04.010}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat8" "00436140" "" "" "" "1" "" "00006" "{PMID:Schonauer 2023:37207645}, {DOI:Schonauer 2023:10.1016/j.ajhg.2023.04.010}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Pat9" "00436141" "" "" "" "1" "" "00006" "{PMID:Schonauer 2023:37207645}, {DOI:Schonauer 2023:10.1016/j.ajhg.2023.04.010}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat10" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00436130" "05611" "00436131" "05611" "00436132" "05611" "00436133" "05611" "00436134" "05611" "00436135" "05611" "00436136" "05611" "00436137" "05611" "00436138" "05611" "00436139" "05611" "00436140" "05611" "00436141" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611 ## Count = 12 "{{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}}" "0000326314" "05611" "00436130" "00006" "Familial" "33y" "onset infancy; neurodevelopmental delay; obesity; hyperphagia; diabetes; CAKUT (hydro-nephrosis); prominent occiput (HP:0011220); no widely spaced eyes (HP:0000316); no epicanthus (-HP:0000286); no upslanted palpebral fissure (-HP:0000582); no downslanted palpebral fissure (-HP:0000494); upper eyelid, fullness of (HP:0000629); depressed nasal bridge (HP:0005280); wide nose (HP:0000445); no anteverted nares (-HP:0000463); no thick ala nasi (-HP:0009928); broad philtrum (HP:0000289); no short philtrum (-HP:0000322); thin upper lip vermilion (HP:0000219); no thick lower lip vermilion (-HP:0000179); wide mouth (HP:0000154); no narrow mouth (-HP:0000160); downturned corners mouth (HP:0002714); dolichocephaly; prominent glabella; mild speech delay; mild motor delay; moderate learning disabilities; special school; mild intellectual disability; no epilepsy; formal diagnosis of Autism Spectrum Disorder and ADHD, stereotypic behavior, social distancing" "" "" "" "" "" "" "" "Prader-Willi syndrome" "0000326315" "05611" "00436131" "00006" "Unknown" "62y" "no neurodevelopmental delay; obesity; hyperphagia; diabetes; no uro-renal anomalies; prominent occiput (HP:0011220); widely spaced eyes (HP:0000316); no epicanthus (-HP:0000286); no upslanted palpebral fissure (-HP:0000582); no downslanted palpebral fissure (-HP:0000494); upper eyelid, fullness of (HP:0000629); depressed nasal bridge (HP:0005280); wide nose (HP:0000445); no anteverted nares (-HP:0000463); no thick ala nasi (-HP:0009928); broad philtrum (HP:0000289); no short philtrum (-HP:0000322); no thin upper lip vermilion (-HP:0000219); thick lower lip vermilion (HP:0000179); wide mouth (HP:0000154); no narrow mouth (-HP:0000160); downturned corners mouth (HP:0002714); prominent glabella; no speech delay; no motor delay; mild learning disabilities; middle school; no epilepsy" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000326316" "05611" "00436132" "00006" "Isolated (sporadic)" "9y" "onset postnatal; neurodevelopmental delay; obesity; hyperphagia; no diabetes; brain MRI normal; no uro-renal anomalies; neonatal hypotonia; no feeding difficulties infancy; severe speech delay; mild motor delay; moderate-severe learning disabilities; middle school, 6y-special school; moderate intellectual disability; epilepsy; absent language, stereotypy, poor eye contact, compulsive eating behavior, poor communication skills" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000326317" "05611" "00436133" "00006" "Isolated (sporadic)" "4y" "onset toddler; neurodevelopmental delay; no obesity; no hyperphagia; no diabetes; no uro-renal anomalies; no prominent occiput (-HP:0011220); no thick eyebrow (-HP:0000574); no widely spaced eyes (HP:0000316); no epicanthus (-HP:0000286); no upslanted palpebral fissure (-HP:0000582); no downslanted palpebral fissure (-HP:0000494); upper eyelid, fullness of (HP:0000629); no depressed nasal bridge (-HP:0005280); no wide nose (-HP:0000445); no anteverted nares (-HP:0000463); no thick ala nasi (-HP:0009928); no broad philtrum (-HP:0000289); short philtrum (HP:0000322); no thin upper lip vermilion (-HP:0000219); thick lower lip vermilion (HP:0000179); no wide mouth (-HP:0000154); narrow mouth (HP:0000160); no downturned corners mouth (-HP:0002714); arched eyebrow; wide nasal bridge; neonatal hypotonia; feeding difficulties infancy; mild speech delay; no motor delay; mild learning disabilities; preschool; no intellectual disability; no epilepsy; emotional dysregulation, sensory seeking and/or attention seeking behaviors like hitting head, temper tantrums, aggressive behavior with tantrums, high risk for elopement, difficulty with sound pronunciation, possible processing difficulty, challenges with conversation and reciprocal exchanges, fine motor delays" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000326318" "05611" "00436134" "00006" "Isolated (sporadic)" "10y" "onset infancy; neurodevelopmental delay; no obesity; no hyperphagia; no diabetes; brain MRI normal; no uro-renal anomalies; prominent occiput (HP:0011220); thick eyebrow (HP:0000574); widely spaced eyes (HP:0000316); no epicanthus (-HP:0000286); no upslanted palpebral fissure (-HP:0000582); no downslanted palpebral fissure (-HP:0000494); no upper eyelid, fullness of (-HP:0000629); depressed nasal bridge (HP:0005280); wide nose (HP:0000445); no anteverted nares (-HP:0000463); no thick ala nasi (-HP:0009928); broad philtrum (HP:0000289); short philtrum (HP:0000322); thin upper lip vermilion (HP:0000219); thick lower lip vermilion (HP:0000179); wide mouth (HP:0000154); no narrow mouth (-HP:0000160); no downturned corners mouth (-HP:0002714); abnormality outer ear (HP:0000356); synophris; arched eyebrow; wide nasal bridge; uplifted and large earlobe; neonatal hypotonia; feeding difficulties infancy; severe speech delay; mild motor delay; severe learning disabilities; special school; mild intellectual disability (IQ55); no epilepsy; reduced frustration tolerance, short attention span" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000326319" "05611" "00436135" "00006" "Familial" "8y" "onset infancy; neurodevelopmental delay; no obesity; no hyperphagia; no diabetes; leuko-encephalopathy; CAKUT (ureter duplex, dysplastic kidneys); no neonatal hypotonia; no feeding difficulties infancy; mild speech delay; no motor delay; no learning disabilities; elementary school; no intellectual disability; no epilepsy" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000326320" "05611" "00436136" "00006" "Unknown" ">30y" "neurodevelopmental delay; no obesity; no hyperphagia; no diabetes; leuko-encephalopathy; neurogenic bladder;" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000326321" "05611" "00436137" "00006" "Isolated (sporadic)" "20y" "onset infancy; neurodevelopmental delay; obesity; hyperphagia; no diabetes; brain MRI normal; no uro-renal anomalies; no neonatal hypotonia; no feeding difficulties infancy; mild speech delay; no motor delay; mild learning disabilities; middle school; no intellectual disability; no epilepsy" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000326322" "05611" "00436138" "00006" "Isolated (sporadic)" "16y" "onset infancy; neurodevelopmental delay; obesity; no hyperphagia; no diabetes; brain MRI normal; no uro-renal anomalies; no neonatal hypotonia; feeding difficulties infancy; moderate speech delay; severe motor delay; severe learning disabilities; no school (special education); moderate intellectual disability; epilepsy" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000326323" "05611" "00436139" "00006" "Isolated (sporadic)" "14y" "onset infancy; neurodevelopmental delay; obesity; hyperphagia; no diabetes; no uro-renal anomalies; no prominent occiput (-HP:0011220); thick eyebrow (HP:0000574); no widely spaced eyes (HP:0000316); no epicanthus (-HP:0000286); no upslanted palpebral fissure (-HP:0000582); no downslanted palpebral fissure (-HP:0000494); upper eyelid, fullness of (HP:0000629); no depressed nasal bridge (-HP:0005280); wide nose (HP:0000445); no anteverted nares (-HP:0000463); thick ala nasi (HP:0009928); no broad philtrum (-HP:0000289); no short philtrum (-HP:0000322); no thin upper lip vermilion (-HP:0000219); no thick lower lip vermilion (-HP:0000179); no wide mouth (-HP:0000154); no narrow mouth (-HP:0000160); no downturned corners mouth (-HP:0002714); abnormality outer ear (HP:0000356); strabismus; uplifted and large earlobe; neonatal hypotonia; feeding difficulties infancy; moderate speech delay; mild motor delay; moderate learning disabilities; middle school (regular school with special needs); moderate intellectual disability (IQ44); no epilepsy; rituals, mannerisms, unusual interests, Social Communication Questionnaire (SCQ) score 1" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000326324" "05611" "00436140" "00006" "Unknown" "11y" "onset infancy; neurodevelopmental delay; obesity; hyperphagia; no diabetes; no uro-renal anomalies; no prominent occiput (-HP:0011220); no thick eyebrow (-HP:0000574); widely spaced eyes (HP:0000316); epicanthus (HP:0000286); no upslanted palpebral fissure (-HP:0000582); no downslanted palpebral fissure (-HP:0000494); upper eyelid, fullness of (HP:0000629); depressed nasal bridge (HP:0005280); no wide nose (-HP:0000445); no anteverted nares (-HP:0000463); no thick ala nasi (-HP:0009928); no broad philtrum (-HP:0000289); no short philtrum (-HP:0000322); thin upper lip vermilion (HP:0000219); no thick lower lip vermilion (-HP:0000179); no wide mouth (-HP:0000154); no narrow mouth (-HP:0000160); no downturned corners mouth (-HP:0002714); sparse lateral eyebrow; arched eyebrow; wide nasal bridge; small mouth; neonatal hypotonia; feeding difficulties infancy; mild speech delay; no motor delay; mild learning disabilities; regular primary school, special school (secondary school); moderate intellectual disability; no epilepsy; formal diagnosis of Autism Spectrum Disorder and ADHD, lack of danger awareness, dislike of busy areas and new places, dislike of the everyday demands of life, obsessive behavior, sensory aversions, meltdowns, sleep difficulties, behavioural difficulties (screaming, shouting and meltdowns)" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000326325" "05611" "00436141" "00006" "Isolated (sporadic)" "15y" "onset infancy; neurodevelopmental delay; obesity; hyperphagia; no diabetes; microcephaly; no uro-renal anomalies; prominent occiput (HP:0011220); no thick eyebrow (-HP:0000574); no widely spaced eyes (HP:0000316); no epicanthus (-HP:0000286); no upslanted palpebral fissure (-HP:0000582); no downslanted palpebral fissure (-HP:0000494); upper eyelid, fullness of (HP:0000629); depressed nasal bridge (HP:0005280); wide nose (HP:0000445); anteverted nares (HP:0000463); thick ala nasi (HP:0009928); broad philtrum (HP:0000289); no short philtrum (-HP:0000322); no thin upper lip vermilion (-HP:0000219); thick lower lip vermilion (HP:0000179); no wide mouth (-HP:0000154); no narrow mouth (-HP:0000160); no downturned corners mouth (-HP:0002714); no abnormality outer ear (-HP:0000356); prominent glabella; neonatal hypotonia; no feeding difficulties infancy; moderate speech delay; moderate motor delay; moderate-severe learning disabilities; special education program; moderate-severe intellectual disability; no epilepsy; delayed speech, behavioral difficulties (tantrums)" "" "" "" "" "" "" "" "neurodevelopmental delay" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000437611" "00436130" "1" "00006" "00006" "2023-08-16 11:42:32" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000437612" "00436131" "1" "00006" "00006" "2023-08-16 11:42:32" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000437613" "00436132" "1" "00006" "00006" "2023-08-16 11:42:32" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000437614" "00436133" "1" "00006" "00006" "2023-08-16 11:42:32" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000437615" "00436134" "1" "00006" "00006" "2023-08-16 11:42:32" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000437616" "00436135" "1" "00006" "00006" "2023-08-16 11:42:32" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000437617" "00436136" "1" "00006" "00006" "2023-08-16 11:42:32" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000437618" "00436137" "1" "00006" "00006" "2023-08-16 11:42:32" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000437619" "00436138" "1" "00006" "00006" "2023-08-16 11:42:32" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000437620" "00436139" "1" "00006" "00006" "2023-08-16 11:42:32" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000437621" "00436140" "1" "00006" "00006" "2023-08-16 11:42:32" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000437622" "00436141" "1" "00006" "00006" "2023-08-16 11:42:32" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## 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 = 15 "{{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}}" "0000530015" "0" "50" "6" "99283527" "99283527" "subst" "2.0445E-5" "02329" "POU3F2_000001" "g.99283527T>A" "" "" "" "POU3F2(NM_005604.4):c.778T>A (p.S260T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98835651T>A" "" "VUS" "" "0000932929" "21" "90" "16" "99282884" "99282884" "subst" "0" "00006" "POU3F2_000002" "g.99282884C>A" "" "{PMID:Schonauer 2023:37207645}, {DOI:Schonauer 2023:10.1016/j.ajhg.2023.04.010}" "" "" "" "Germline" "" "" "0" "" "" "g.98835008C>A" "" "pathogenic (dominant)" "" "0000932930" "0" "90" "16" "99282884" "99282884" "subst" "0" "00006" "POU3F2_000002" "g.99282884C>A" "" "{PMID:Schonauer 2023:37207645}, {DOI:Schonauer 2023:10.1016/j.ajhg.2023.04.010}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.98835008C>A" "" "pathogenic (dominant)" "" "0000932931" "0" "90" "16" "99283663" "99283663" "subst" "0" "00006" "POU3F2_000005" "g.99283663A>G" "" "{PMID:Schonauer 2023:37207645}, {DOI:Schonauer 2023:10.1016/j.ajhg.2023.04.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98835787A>G" "" "pathogenic (dominant)" "" "0000932932" "0" "90" "16" "99282790" "99282790" "subst" "0" "00006" "POU3F2_000001" "g.99282790C>T" "" "{PMID:Schonauer 2023:37207645}, {DOI:Schonauer 2023:10.1016/j.ajhg.2023.04.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98834914C>T" "" "pathogenic (dominant)" "" "0000932933" "0" "90" "16" "99283561" "99283561" "subst" "0" "00006" "POU3F2_000004" "g.99283561A>T" "" "{PMID:Schonauer 2023:37207645}, {DOI:Schonauer 2023:10.1016/j.ajhg.2023.04.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98835685A>T" "" "pathogenic (dominant)" "" "0000932934" "11" "90" "16" "99283413" "99283413" "subst" "0" "00006" "POU3F2_000003" "g.99283413C>T" "" "{PMID:Schonauer 2023:37207645}, {DOI:Schonauer 2023:10.1016/j.ajhg.2023.04.010}" "" "" "" "Germline" "" "" "0" "" "" "g.98835537C>T" "" "pathogenic (dominant)" "" "0000932935" "0" "90" "16" "99283413" "99283413" "subst" "0" "00006" "POU3F2_000003" "g.99283413C>T" "" "{PMID:Schonauer 2023:37207645}, {DOI:Schonauer 2023:10.1016/j.ajhg.2023.04.010}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.98835537C>T" "" "pathogenic (dominant)" "" "0000932936" "0" "90" "16" "99283678" "99283678" "subst" "0" "00006" "POU3F2_000006" "g.99283678G>C" "" "{PMID:Schonauer 2023:37207645}, {DOI:Schonauer 2023:10.1016/j.ajhg.2023.04.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98835802G>C" "" "pathogenic (dominant)" "" "0000932937" "0" "90" "16" "99283998" "99284001" "del" "0" "00006" "POU3F2_000009" "g.99283998_99284001del" "" "{PMID:Schonauer 2023:37207645}, {DOI:Schonauer 2023:10.1016/j.ajhg.2023.04.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98836122_98836125del" "" "pathogenic (dominant)" "" "0000932938" "0" "90" "16" "99283813" "99283813" "subst" "0" "00006" "POU3F2_000007" "g.99283813G>T" "" "{PMID:Schonauer 2023:37207645}, {DOI:Schonauer 2023:10.1016/j.ajhg.2023.04.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98835937G>T" "" "pathogenic (dominant)" "" "0000932939" "0" "90" "16" "99284074" "99284074" "subst" "0" "00006" "POU3F2_000010" "g.99284074T>C" "" "{PMID:Schonauer 2023:37207645}, {DOI:Schonauer 2023:10.1016/j.ajhg.2023.04.010}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.98836198T>C" "" "pathogenic (dominant)" "" "0000932940" "0" "90" "16" "99283961" "99283961" "subst" "0" "00006" "POU3F2_000008" "g.99283961C>A" "" "{PMID:Schonauer 2023:37207645}, {DOI:Schonauer 2023:10.1016/j.ajhg.2023.04.010}" "" "" "" "De novo" "" "" "0" "" "" "g.98836085C>A" "" "pathogenic (dominant)" "" "0000964301" "0" "30" "6" "99282962" "99282964" "del" "0" "02329" "POU3F2_000002" "g.99282962_99282964del" "" "" "" "POU3F2(NM_005604.4):c.213_215delCGG (p.G88del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025285" "0" "50" "6" "99284040" "99284040" "subst" "0" "02325" "POU3F2_000003" "g.99284040G>A" "" "" "" "POU3F2(NM_005604.4):c.1291G>A (p.D431N)" "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 POU3F2 ## Count = 15 "{{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}}" "0000530015" "00016572" "50" "778" "0" "778" "0" "c.778T>A" "r.(?)" "p.(Ser260Thr)" "" "0000932929" "00016572" "90" "135" "0" "135" "0" "c.135C>A" "r.(?)" "p.(Tyr45Ter)" "" "0000932930" "00016572" "90" "135" "0" "135" "0" "c.135C>A" "r.(?)" "p.(Tyr45Ter)" "" "0000932931" "00016572" "90" "914" "0" "914" "0" "c.914A>G" "r.(?)" "p.(Gln305Arg)" "" "0000932932" "00016572" "90" "41" "0" "41" "0" "c.41C>T" "r.(?)" "p.(Ser14Phe)" "" "0000932933" "00016572" "90" "812" "0" "812" "0" "c.812A>T" "r.(?)" "p.(Glu271Val)" "" "0000932934" "00016572" "90" "664" "0" "664" "0" "c.664C>T" "r.(?)" "p.(Pro222Ser)" "" "0000932935" "00016572" "90" "664" "0" "664" "0" "c.664C>T" "r.(?)" "p.(Pro222Ser)" "" "0000932936" "00016572" "90" "929" "0" "929" "0" "c.929G>C" "r.(?)" "p.(Arg310Thr)" "" "0000932937" "00016572" "90" "1249" "0" "1252" "0" "c.1249_1252del" "r.(?)" "p.(Gly417LeufsTer71)" "" "0000932938" "00016572" "90" "1064" "0" "1064" "0" "c.1064G>T" "r.(?)" "p.(Arg355Leu)" "" "0000932939" "00016572" "90" "1325" "0" "1325" "0" "c.1325T>C" "r.(?)" "p.(Val442Ala)" "" "0000932940" "00016572" "90" "1212" "0" "1212" "0" "c.1212C>A" "r.(?)" "p.(Asn404Lys)" "" "0000964301" "00016572" "30" "213" "0" "215" "0" "c.213_215del" "r.(?)" "p.(Gly88del)" "" "0001025285" "00016572" "50" "1291" "0" "1291" "0" "c.1291G>A" "r.(?)" "p.(Asp431Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000437611" "0000932929" "0000437612" "0000932930" "0000437613" "0000932931" "0000437614" "0000932932" "0000437615" "0000932933" "0000437616" "0000932934" "0000437617" "0000932935" "0000437618" "0000932936" "0000437619" "0000932937" "0000437620" "0000932938" "0000437621" "0000932939" "0000437622" "0000932940"