### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BPTF) # 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}}" "BPTF" "bromodomain PHD finger transcription factor" "17" "q24" "unknown" "NG_052828.1" "UD_132378650403" "" "https://www.LOVD.nl/BPTF" "" "1" "3581" "2186" "601819" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/BPTF_NM_004459.6_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-07-14 16:06:48" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024281" "BPTF" "transcript variant 2" "014" "NM_004459.6" "" "NP_004450.3" "" "" "" "-61" "10802" "8712" "65821780" "65980494" "00729" "2017-07-02 20:40:46" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "05339" "CHTD" "disease, heart, congenital (CHTD)" "" "" "" "" "" "00006" "2017-11-05 11:35:27" "" "" "06349" "NEDDFL" "Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies" "AD" "617755" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "BPTF" "06349" ## 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}}" "00106517" "" "" "" "1" "" "00729" "{PMID:Stankiewicz 2017:28942966}, {DOI:Stankiewicz 2017:10.1016/j.ajhg.2017.08.014}" "" "M" "no" "" "" "0" "yes" "" "white" "28942966-Pat1" "00106518" "" "" "" "1" "" "00729" "{PMID:Stankiewicz 2017:28942966}, {DOI:Stankiewicz 2017:10.1016/j.ajhg.2017.08.014}" "" "M" "no" "" "" "0" "yes" "" "Latino" "28942966-Pat2" "00106519" "" "" "" "1" "" "00729" "{PMID:Stankiewicz 2017:28942966}, {DOI:Stankiewicz 2017:10.1016/j.ajhg.2017.08.014}" "" "M" "no" "" "" "0" "yes" "" "Latino" "28942966-Pat3" "00106520" "" "" "" "1" "" "00729" "{PMID:Stankiewicz 2017:28942966}, {DOI:Stankiewicz 2017:10.1016/j.ajhg.2017.08.014}" "" "F" "no" "" "" "0" "" "" "Latino" "28942966-Pat4" "00106521" "" "" "" "1" "" "00729" "{PMID:Stankiewicz 2017:28942966}, {DOI:Stankiewicz 2017:10.1016/j.ajhg.2017.08.014}" "" "F" "no" "" "" "0" "" "" "Latino" "28942966-Pat5" "00106522" "" "" "" "1" "" "00729" "{PMID:Stankiewicz 2017:28942966}, {DOI:Stankiewicz 2017:10.1016/j.ajhg.2017.08.014}" "" "M" "no" "" "" "0" "" "" "white" "28942966-Pat6" "00106523" "" "" "" "1" "" "00729" "{PMID:Stankiewicz 2017:28942966}, {DOI:Stankiewicz 2017:10.1016/j.ajhg.2017.08.014}" "" "M" "no" "" "" "0" "" "" "white" "28942966-Pat7" "00106524" "" "" "" "1" "" "00729" "{PMID:Stankiewicz 2017:28942966}, {DOI:Stankiewicz 2017:10.1016/j.ajhg.2017.08.014}" "" "?" "?" "" "" "0" "" "" "" "28942966-Pat8" "00106525" "" "" "" "1" "" "00729" "{PMID:Stankiewicz 2017:28942966}, {DOI:Stankiewicz 2017:10.1016/j.ajhg.2017.08.014}" "" "M" "no" "" "" "0" "" "" "white" "28942966-Pat9" "00106526" "" "" "" "1" "" "00729" "{PMID:Stankiewicz 2017:28942966}, {DOI:Stankiewicz 2017:10.1016/j.ajhg.2017.08.014}" "" "M" "no" "" "" "0" "" "" "Latino" "28942966-Pat10" "00385451" "" "" "" "1" "" "00006" "{PMID:Ackerman 2016:27452334}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "United States" "" "0" "" "" "" "patient" "00464072" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00106517" "00139" "00106518" "00139" "00106519" "00139" "00106520" "00139" "00106521" "00139" "00106522" "00139" "00106523" "00139" "00106524" "00139" "00106525" "00139" "00106526" "00139" "00385451" "05339" "00464072" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 05339, 06349 ## Count = 12 "{{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}}" "0000084330" "04147" "00106517" "00729" "Isolated (sporadic)" "02y01m" "Developmental delay/Intellectual disability, Speech/language delay Motor delay, Hypotonia, Microcephaly" "" "" "" "" "" "" "" "" "" "0000084331" "00139" "00106518" "00729" "Isolated (sporadic)" "07y09m" "Severe Developmental delay/Intellectual disability, Speech/language delay Motor delay, Microcephaly, Bilateral occipital protuberances, long nasal bridge with mildly hypolastic alae nasi, Multiple lateral flaring of eyebrows, ; outward deviation of one eye, Pes planus, 5th digit clinodactyly, windswept 2nd toe with lateral deviation, broad short great toes dental caries; profound intellectual disability (HP:0002187); severe global developmental delay (HP:0011344); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "0000084332" "00139" "00106519" "00729" "Isolated (sporadic)" "10y09m" "mild Developmental delay/Intellectual disability, mild speech/language delay, Motor delay, Large helices of both ears (similar to father),; mild intellectual disability (HP:0001256); mild global developmental delay (HP:0011342); mild speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "0000084333" "00139" "00106520" "00729" "Isolated (sporadic)" "10y00m" "Developmental delay/Intellectual disability, Speech/language delay Motor delay, Hypotonia, Microcephaly, Brain MRI: bilateral nonspecific multifocal white matter lesions; Prominent nose, Ocular hypertelorism, epicantal folds, up-slanting palpebral fissures, Advanced bone age; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "0000084334" "00139" "00106521" "00729" "Isolated (sporadic)" "04y03m" "Developmental delay/Intellectual disability, Autistic spectrum disorder, Speech/language delay, Microcephaly, Mediofacial hypoplasia, Up-slanting palpebral fissures, hypertelorism, 5th digit clinodactyly; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "0000084335" "00139" "00106522" "00729" "Isolated (sporadic)" "13y00m" "Developmental delay/Intellectual disability, Speech/language delay, Microcephaly, High palate, prominent nose and columella, thin upper lip, Slender fingers and toes,; bulbous halluces; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "0000084336" "00139" "00106523" "00729" "Isolated (sporadic)" "11y00m" "Developmental delay/Intellectual disability, Speech/language delay Motor delay, Hypotonia, Microcephaly, broad nasal tip, prominent gum line, Lack of subcutaneous fat, Peg like, disorganized teeth, Lateral flaring of eyebrows, prominent supraorbital ridges, short palpebral fissures, severe myopia and convergent squint, Wrinkly hands, flexed fingers, 5th finger clinodactyly, bulbous halluces, overlapping toes; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "0000084337" "00139" "00106524" "00729" "Isolated (sporadic)" "?" "Mild Intellectual disability, Speech/language delay, Motor delay; mild intellectual disability (HP:0001256); mild global developmental delay (HP:0011342); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "0000084338" "00139" "00106525" "00729" "Isolated (sporadic)" "07y11m" "Moderate (IQ 54), aggression and distractedness, disturbed sleep rhythm and sleeping problems, Speech/language delay Motor delay, Hypotonia, Microcephaly,MRI at age 4 years 8 months: periventricular white matter lesions, Long nasal bridge, small mouth and micrognathia, Cataract in right eye, hyperopia, Sandals\' gap of both feet; moderate intellectual disability (HP:0002342); moderate global developmental delay (HP:0011343); mild-moderate speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "0000084339" "00139" "00106526" "00729" "Isolated (sporadic)" "04y08m" "Developmental delay/Intellectual disability, Speech/language delay, Hypotonia, Microcephaly, Bilateral facial paresis, bilateral anotia; absence of external auditory canals bilaterally, complete opacification of both middle ears, Epicanthal folds, up-slanting palpebral fissures, left colobomatous (iris and disk) microphthalmia, slight inferior lens subluxation, astigmatism left, Right thumb and thenar hypoplasia; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "0000279246" "05339" "00385451" "00006" "Isolated (sporadic)" "" "see paper; ..., mild pulmonary valve stenosis, mild aortic root dilatation, atrial septal defect, ventricular septal defect, patent ductus arteriosus (closed surgically); polyvalvular syndrome, involvement both semilunar and both atrioventricular valves; hypotonia, myopia, soft pale skin, joint hypermobility, mild facial dysmorphism" "" "" "" "" "" "" "" "CHTD2" "" "0000350134" "00139" "00464072" "03544" "Isolated (sporadic)" "" "HP:0000252, HP:0004322, HP:0100543, HP:0000483" "" "" "" "" "" "" "" "NEDDFL" "neurodevelopmental disorder" ## 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}}" "0000106986" "00106517" "1" "00729" "00729" "2017-07-02 21:01:01" "" "" "SEQ-NG" "DNA" "" "" "0000106987" "00106518" "1" "00729" "00729" "2017-07-02 21:11:50" "" "" "SEQ-NG" "DNA" "" "" "0000106988" "00106519" "1" "00729" "00729" "2017-07-02 21:26:21" "00729" "2017-07-02 23:11:30" "SEQ-NG" "DNA" "" "" "0000106989" "00106520" "1" "00729" "00729" "2017-07-02 21:35:55" "" "" "SEQ-NG" "DNA" "" "" "0000106990" "00106521" "1" "00729" "00729" "2017-07-02 23:05:10" "" "" "SEQ-NG" "DNA" "" "" "0000106991" "00106522" "1" "00729" "00729" "2017-07-02 23:17:26" "00729" "2017-07-02 23:25:58" "SEQ-NG" "DNA" "" "" "0000106992" "00106523" "1" "00729" "00729" "2017-07-02 23:22:56" "" "" "SEQ-NG" "DNA" "" "" "0000106993" "00106524" "1" "00729" "00729" "2017-07-02 23:32:10" "" "" "SEQ-NG" "DNA" "" "" "0000106994" "00106525" "1" "00729" "00729" "2017-07-02 23:36:46" "" "" "SEQ-NG" "DNA" "" "" "0000106995" "00106526" "1" "00729" "00729" "2017-07-02 23:47:17" "" "" "SEQ-NG" "DNA" "" "" "0000386680" "00385451" "1" "00006" "00006" "2021-10-12 17:12:34" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000465703" "00464072" "1" "03544" "03544" "2025-02-20 14:23:40" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000106986" "BPTF" "0000106987" "BPTF" "0000106988" "BPTF" "0000106989" "BPTF" "0000106990" "BPTF" "0000106991" "BPTF" "0000106993" "BPTF" "0000106994" "BPTF" "0000106995" "BPTF" "0000386680" "TAB2" ## 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 = 94 "{{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}}" "0000172724" "0" "99" "17" "65890220" "65890220" "dup" "0" "00729" "BPTF_000001" "g.65890220dup" "" "{PMID:Stankiewicz 2017:28942966}, {DOI:Stankiewicz 2017:10.1016/j.ajhg.2017.08.014}" "" "" "" "De novo" "yes" "" "0" "" "" "g.67894104dup" "" "pathogenic" "ACMG" "0000172725" "0" "99" "17" "65908838" "65908839" "del" "0" "00729" "BPTF_000002" "g.65908838_65908839del" "" "{PMID:Stankiewicz 2017:28942966}, {DOI:Stankiewicz 2017:10.1016/j.ajhg.2017.08.014}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.67912722_67912723del" "" "pathogenic" "ACMG" "0000172726" "0" "99" "17" "65972049" "65972049" "subst" "0" "00729" "BPTF_000003" "g.65972049A>T" "" "{PMID:Stankiewicz 2017:28942966}, {DOI:Stankiewicz 2017:10.1016/j.ajhg.2017.08.014}" "" "" "" "De novo" "yes" "" "0" "" "" "g.67975933A>T" "" "pathogenic" "ACMG" "0000172727" "0" "99" "17" "65700188" "65896330" "del" "0" "00729" "BPTF_000004" "g.65700188_65896330del" "" "{PMID:Stankiewicz 2017:28942966}, {DOI:Stankiewicz 2017:10.1016/j.ajhg.2017.08.014}" "" "" "" "De novo" "yes" "" "0" "" "" "g.67704072_67900214del" "" "pathogenic" "ACMG" "0000172728" "0" "99" "17" "65898399" "65986981" "del" "0" "00729" "BPTF_000005" "g.65898399_65986981del" "" "{PMID:Stankiewicz 2017:28942966}, {DOI:Stankiewicz 2017:10.1016/j.ajhg.2017.08.014}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.67902283_67990865del" "" "likely pathogenic" "ACMG" "0000172729" "0" "99" "17" "65905867" "65905878" "del" "0" "00729" "BPTF_000006" "g.65905867_65905878del" "" "{PMID:Stankiewicz 2017:28942966}, {DOI:Stankiewicz 2017:10.1016/j.ajhg.2017.08.014}" "" "" "" "De novo" "yes" "" "0" "" "" "g.67909751_67909762del" "" "pathogenic" "ACMG" "0000172730" "0" "77" "17" "65914918" "65914918" "subst" "0" "00729" "BPTF_000007" "g.65914918G>A" "" "{PMID:Stankiewicz 2017:28942966}, {DOI:Stankiewicz 2017:10.1016/j.ajhg.2017.08.014}" "" "" "" "De novo" "yes" "" "0" "" "" "g.67918802G>A" "" "likely pathogenic" "ACMG" "0000172731" "0" "55" "17" "65971957" "65971957" "subst" "0" "00729" "BPTF_000008" "g.65971957T>G" "" "{PMID:Stankiewicz 2017:28942966}, {DOI:Stankiewicz 2017:10.1016/j.ajhg.2017.08.014}" "" "" "" "Unknown" "?" "" "0" "" "" "g.67975841T>G" "" "VUS" "ACMG" "0000172732" "0" "99" "17" "65850431" "65850431" "del" "0" "00729" "BPTF_000009" "g.65850431del" "" "{PMID:Stankiewicz 2017:28942966}, {DOI:Stankiewicz 2017:10.1016/j.ajhg.2017.08.014}" "" "" "" "De novo" "yes" "" "0" "" "" "g.67854315del" "" "pathogenic" "ACMG" "0000172733" "0" "77" "17" "65960326" "65960326" "subst" "0" "00729" "BPTF_000010" "g.65960326A>G" "" "{PMID:Stankiewicz 2017:28942966}, {DOI:Stankiewicz 2017:10.1016/j.ajhg.2017.08.014}" "" "" "" "De novo" "yes" "" "0" "" "" "g.67964210A>G" "" "pathogenic" "ACMG" "0000172734" "0" "99" "17" "65889796" "65889796" "del" "0" "00729" "BPTF_000011" "g.65889796del" "" "{PMID:Stankiewicz 2017:28942966}, {DOI:Stankiewicz 2017:10.1016/j.ajhg.2017.08.014}" "" "" "" "De novo" "yes" "" "0" "" "" "g.67893680del" "" "pathogenic" "ACMG" "0000263738" "0" "30" "17" "65888108" "65888108" "subst" "0.00013378" "01943" "BPTF_000014" "g.65888108C>T" "" "" "" "BPTF(NM_182641.4):c.2013C>T (p.A671=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67891992C>T" "" "likely benign" "" "0000263739" "0" "10" "17" "65822394" "65822396" "del" "0" "01943" "BPTF_000013" "g.65822394_65822396del" "" "" "" "BPTF(NM_182641.3):c.554_556delACG (p.(Asp185del)), BPTF(NM_182641.4):c.554_556delACG (p.D185del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67826278_67826280del" "" "benign" "" "0000263740" "0" "50" "17" "65924675" "65924675" "subst" "0" "01943" "BPTF_000015" "g.65924675C>T" "" "" "" "BPTF(NM_182641.4):c.5956C>T (p.Q1986*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67928559C>T" "" "VUS" "" "0000263741" "0" "50" "17" "65944279" "65944279" "subst" "0" "01943" "BPTF_000016" "g.65944279C>T" "" "" "" "BPTF(NM_182641.4):c.7783C>T (p.R2595C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67948163C>T" "" "VUS" "" "0000347804" "0" "50" "17" "65971957" "65971957" "subst" "0" "02327" "BPTF_000008" "g.65971957T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67975841T>G" "" "VUS" "" "0000562841" "0" "50" "17" "65882421" "65882421" "subst" "0" "01804" "BPTF_000019" "g.65882421A>G" "" "" "" "BPTF(NM_004459.6):c.2231A>G (p.(Gln744Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67886305A>G" "" "VUS" "" "0000562842" "0" "90" "17" "65889832" "65889833" "ins" "0" "02329" "BPTF_000020" "g.65889832_65889833insTGAT" "" "" "" "BPTF(NM_182641.4):c.2402_2403insTGAT (p.S802Dfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67893716_67893717insTGAT" "" "pathogenic" "" "0000562844" "0" "30" "17" "65899926" "65899926" "subst" "0" "01804" "BPTF_000021" "g.65899926T>G" "" "" "" "BPTF(NM_004459.6):c.2943T>G (p.(Ile981Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67903810T>G" "" "likely benign" "" "0000562845" "0" "30" "17" "65905835" "65905835" "subst" "4.39684E-6" "01804" "BPTF_000022" "g.65905835A>G" "" "" "" "BPTF(NM_004459.6):c.3328A>G (p.(Asn1110Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67909719A>G" "" "likely benign" "" "0000562848" "0" "30" "17" "65907644" "65907644" "subst" "0.00114139" "01804" "BPTF_000025" "g.65907644T>C" "" "" "" "BPTF(NM_004459.6):c.4022T>C (p.(Ile1341Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67911528T>C" "" "likely benign" "" "0000562849" "0" "30" "17" "65907914" "65907914" "subst" "0.00256833" "01804" "BPTF_000026" "g.65907914A>G" "" "" "" "BPTF(NM_004459.6):c.4292A>G (p.(Asp1431Gly)), BPTF(NM_004459.7):c.4292A>G (p.D1431G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67911798A>G" "" "likely benign" "" "0000562850" "0" "50" "17" "65914879" "65914879" "subst" "0" "02327" "BPTF_000027" "g.65914879C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67918763C>T" "" "VUS" "" "0000680988" "0" "30" "17" "65942214" "65942214" "subst" "0" "02327" "BPTF_000033" "g.65942214C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680989" "0" "30" "17" "65955782" "65955783" "ins" "0" "02325" "BPTF_000034" "g.65955782_65955783insGCCCCTCCAGCCCCTCCAGCCCCTCCA" "" "" "" "BPTF(NM_004459.7):c.8001_8002insGCCCCTCCAGCCCCTCCAGCCCCTCCA (p.A2659_P2667dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692447" "0" "70" "17" "65905740" "65905744" "del" "0" "01804" "BPTF_000035" "g.65905740_65905744del" "" "" "" "BPTF(NM_004459.6):c.3229_3233del (p.(Arg1078Metfs*13))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000726630" "0" "70" "17" "65918955" "65918955" "subst" "0" "02329" "BPTF_000028" "g.65918955G>A" "" "" "" "BPTF(NM_182641.4):c.5558-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000808228" "0" "30" "17" "65871803" "65871803" "subst" "1.65868E-5" "02325" "BPTF_000036" "g.65871803G>A" "" "" "" "BPTF(NM_004459.7):c.1996G>A (p.D666N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808229" "0" "50" "17" "65960485" "65960485" "subst" "0" "02327" "BPTF_000037" "g.65960485T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808230" "0" "50" "17" "65960521" "65960521" "subst" "0" "02327" "BPTF_000038" "g.65960521G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000814502" "1" "50" "17" "65928105" "65928105" "subst" "0.00014219" "00006" "BPTF_000039" "g.65928105A>G" "" "{PMID:Ackerman 2016:27452334}" "" "6229A>G (Ile2077Val)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000814503" "2" "50" "17" "65907644" "65907644" "subst" "0.00114139" "00006" "BPTF_000025" "g.65907644T>C" "" "{PMID:Ackerman 2016:27452334}" "" "3644T>C (Ile1215Thr)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000894215" "0" "70" "17" "65850811" "65850811" "subst" "0" "02327" "BPTF_000040" "g.65850811C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000894216" "0" "70" "17" "65862670" "65862670" "subst" "0" "02327" "BPTF_000041" "g.65862670A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000894217" "0" "50" "17" "65890147" "65890147" "subst" "0" "02327" "BPTF_000042" "g.65890147C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894218" "0" "30" "17" "65907914" "65907914" "subst" "0.00256833" "02325" "BPTF_000026" "g.65907914A>G" "" "" "" "BPTF(NM_004459.6):c.4292A>G (p.(Asp1431Gly)), BPTF(NM_004459.7):c.4292A>G (p.D1431G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894219" "0" "50" "17" "65909296" "65909296" "subst" "0" "02329" "BPTF_000043" "g.65909296A>T" "" "" "" "BPTF(NM_182641.4):c.5296A>T (p.T1766S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926632" "0" "50" "17" "65882304" "65882304" "subst" "0" "02325" "BPTF_000044" "g.65882304C>T" "" "" "" "BPTF(NM_004459.7):c.2114C>T (p.P705L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951022" "0" "50" "17" "65907146" "65907146" "subst" "4.06481E-6" "02325" "BPTF_000045" "g.65907146C>T" "" "" "" "BPTF(NM_004459.7):c.3524C>T (p.T1175I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969189" "0" "30" "17" "65822084" "65822086" "del" "0" "02329" "BPTF_000046" "g.65822084_65822086del" "" "" "" "BPTF(NM_182641.4):c.244_246delCCG (p.P82del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969191" "0" "50" "17" "65899959" "65899959" "del" "0" "02325" "BPTF_000047" "g.65899959del" "" "" "" "BPTF(NM_004459.7):c.2976delA (p.E993Rfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982733" "0" "50" "17" "65822095" "65822095" "dup" "0" "02325" "BPTF_000048" "g.65822095dup" "" "" "" "BPTF(NM_004459.7):c.255dupC (p.S86Qfs*43)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982734" "0" "30" "17" "65899902" "65899902" "subst" "0" "01804" "BPTF_000049" "g.65899902T>A" "" "" "" "BPTF(NM_182641.4):c.2544-3T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982735" "0" "30" "17" "65900053" "65900053" "subst" "0" "01804" "BPTF_000050" "g.65900053C>G" "" "" "" "BPTF(NM_182641.4):c.2673+19C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982736" "0" "50" "17" "65907060" "65907062" "del" "0" "01804" "BPTF_000051" "g.65907060_65907062del" "" "" "" "BPTF(NM_182641.4):c.3060_3062del (p.(Asp1021del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982737" "0" "30" "17" "65908049" "65908049" "subst" "5.29148E-5" "01804" "BPTF_000052" "g.65908049C>T" "" "" "" "BPTF(NM_182641.4):c.4049C>T (p.(Pro1350Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003594" "0" "30" "17" "65822394" "65822396" "del" "0" "01804" "BPTF_000013" "g.65822394_65822396del" "" "" "" "BPTF(NM_182641.3):c.554_556delACG (p.(Asp185del)), BPTF(NM_182641.4):c.554_556delACG (p.D185del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003595" "0" "30" "17" "65862644" "65862644" "subst" "4.06121E-6" "01804" "BPTF_000054" "g.65862644G>A" "" "" "" "BPTF(NM_182641.3):c.1501G>A (p.(Ala501Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003596" "0" "30" "17" "65871819" "65871819" "subst" "0" "01804" "BPTF_000055" "g.65871819C>A" "" "" "" "BPTF(NM_004459.6):c.2012C>A (p.(Ala671Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003597" "0" "30" "17" "65882370" "65882370" "subst" "4.06207E-6" "01804" "BPTF_000056" "g.65882370C>T" "" "" "" "BPTF(NM_004459.6):c.2180C>T (p.(Ala727Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003598" "0" "30" "17" "65890239" "65890239" "subst" "0" "01804" "BPTF_000057" "g.65890239T>G" "" "" "" "BPTF(NM_182641.3):c.2501T>G (p.(Val834Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003599" "0" "50" "17" "65907142" "65907142" "subst" "1.21938E-5" "01804" "BPTF_000058" "g.65907142A>G" "" "" "" "BPTF(NM_182641.3):c.3142A>G (p.(Arg1048Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003600" "0" "70" "17" "65907483" "65907483" "subst" "0" "01804" "BPTF_000059" "g.65907483T>G" "" "" "" "BPTF(NM_182641.3):c.3483T>G (p.(Tyr1161*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001003601" "0" "30" "17" "65908430" "65908430" "subst" "0" "01804" "BPTF_000060" "g.65908430A>C" "" "" "" "BPTF(NM_182641.3):c.4430A>C (p.(Glu1477Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003602" "0" "50" "17" "65908592" "65908592" "subst" "2.03613E-5" "01804" "BPTF_000061" "g.65908592T>A" "" "" "" "BPTF(NM_182641.3):c.4592T>A (p.(Val1531Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003603" "0" "30" "17" "65908818" "65908818" "subst" "4.50617E-5" "01804" "BPTF_000062" "g.65908818A>T" "" "" "" "BPTF(NM_182641.3):c.4818A>T (p.(Glu1606Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003604" "0" "50" "17" "65908976" "65908976" "subst" "4.88122E-5" "01804" "BPTF_000063" "g.65908976C>T" "" "" "" "BPTF(NM_182641.3):c.4976C>T (p.(Thr1659Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003605" "0" "30" "17" "65909017" "65909017" "subst" "2.03318E-5" "01804" "BPTF_000064" "g.65909017G>A" "" "" "" "BPTF(NM_182641.3):c.5017G>A (p.(Val1673Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003606" "0" "50" "17" "65916170" "65916172" "del" "0" "01804" "BPTF_000065" "g.65916170_65916172del" "" "" "" "BPTF(NM_182641.3):c.5468_5470delAGA (p.(Lys1823del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003607" "0" "30" "17" "65924502" "65924502" "subst" "4.06788E-5" "01804" "BPTF_000066" "g.65924502T>C" "" "" "" "BPTF(NM_182641.3):c.5783T>C (p.(Ile1928Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003608" "0" "30" "17" "65925544" "65925544" "subst" "0" "01804" "BPTF_000067" "g.65925544G>A" "" "" "" "BPTF(NM_182641.3):c.6091G>A (p.(Ala2031Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003609" "0" "30" "17" "65928060" "65928060" "subst" "1.62528E-5" "01804" "BPTF_000068" "g.65928060A>C" "" "" "" "BPTF(NM_182641.3):c.6184A>C (p.(Thr2062Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003610" "0" "50" "17" "65928126" "65928126" "subst" "1.2244E-5" "01804" "BPTF_000069" "g.65928126G>C" "" "" "" "BPTF(NM_182641.3):c.6250G>C (p.(Val2084Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003611" "0" "50" "17" "65940357" "65940357" "subst" "0" "01804" "BPTF_000070" "g.65940357C>A" "" "" "" "BPTF(NM_182641.3):c.6569C>A (p.(Pro2190Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003612" "0" "50" "17" "65940456" "65940456" "subst" "0" "01804" "BPTF_000071" "g.65940456C>T" "" "" "" "BPTF(NM_182641.3):c.6668C>T (p.(Thr2223Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003613" "0" "30" "17" "65942098" "65942098" "subst" "4.0834E-6" "01804" "BPTF_000072" "g.65942098T>G" "" "" "" "BPTF(NM_182641.3):c.7274T>G (p.(Ile2425Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003614" "0" "30" "17" "65942200" "65942200" "subst" "2.4615E-5" "01804" "BPTF_000073" "g.65942200A>C" "" "" "" "BPTF(NM_182641.3):c.7376A>C (p.(Gln2459Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003615" "0" "50" "17" "65962689" "65962689" "subst" "0" "01804" "BPTF_000074" "g.65962689C>T" "" "" "" "BPTF(NM_182641.3):c.8456C>T (p.(Ala2819Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027046" "0" "50" "17" "65908195" "65908195" "subst" "0" "02325" "BPTF_000075" "g.65908195G>A" "" "" "" "BPTF(NM_004459.7):c.4573G>A (p.G1525R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001029400" "0" "70" "17" "65908177" "65908177" "subst" "0" "03544" "BPTF_000076" "g.65908177C>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.67912061C>T" "" "likely pathogenic" "ACMG" "0001042112" "0" "30" "17" "65822375" "65822375" "subst" "0" "01804" "BPTF_000077" "g.65822375A>G" "" "" "" "BPTF(NM_182641.4):c.535A>G (p.(Met179Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042113" "0" "30" "17" "65845896" "65845896" "subst" "0" "01804" "BPTF_000078" "g.65845896A>C" "" "" "" "BPTF(NM_182641.4):c.614-4160A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042114" "0" "30" "17" "65862800" "65862800" "subst" "0.000114023" "02325" "BPTF_000079" "g.65862800A>G" "" "" "" "BPTF(NM_004459.7):c.1657A>G (p.N553D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042115" "0" "30" "17" "65871866" "65871866" "subst" "5.05046E-5" "01804" "BPTF_000080" "g.65871866G>C" "" "" "" "BPTF(NM_004459.7):c.2053+6G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042116" "0" "30" "17" "65899836" "65899836" "subst" "0" "01804" "BPTF_000081" "g.65899836G>A" "" "" "" "BPTF(NM_182641.4):c.2544-69G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042117" "0" "50" "17" "65907400" "65907400" "subst" "4.07534E-6" "01804" "BPTF_000082" "g.65907400G>A" "" "" "" "BPTF(NM_182641.4):c.3400G>A (p.(Glu1134Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042118" "0" "30" "17" "65907707" "65907707" "subst" "2.03207E-5" "01804" "BPTF_000083" "g.65907707C>T" "" "" "" "BPTF(NM_182641.4):c.3707C>T (p.(Pro1236Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042119" "0" "30" "17" "65908199" "65908199" "subst" "1.2398E-5" "01804" "BPTF_000084" "g.65908199A>G" "" "" "" "BPTF(NM_182641.4):c.4199A>G (p.(Gln1400Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042120" "0" "30" "17" "65908252" "65908252" "subst" "2.05019E-5" "01804" "BPTF_000085" "g.65908252T>A" "" "" "" "BPTF(NM_182641.4):c.4252T>A (p.(Leu1418Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042121" "0" "30" "17" "65908322" "65908322" "subst" "4.13654E-6" "01804" "BPTF_000086" "g.65908322A>G" "" "" "" "BPTF(NM_182641.4):c.4322A>G (p.(Asn1441Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042122" "0" "50" "17" "65924636" "65924636" "subst" "0" "01804" "BPTF_000087" "g.65924636C>T" "" "" "" "BPTF(NM_182641.4):c.5917C>T (p.(Pro1973Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042123" "0" "30" "17" "65928105" "65928105" "subst" "0.00014219" "01804" "BPTF_000039" "g.65928105A>G" "" "" "" "BPTF(NM_182641.4):c.6229A>G (p.(Ile2077Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042124" "0" "30" "17" "65935852" "65935852" "subst" "0" "01804" "BPTF_000088" "g.65935852C>T" "" "" "" "BPTF(NM_182641.4):c.6260-703C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042125" "0" "30" "17" "65944280" "65944280" "subst" "4.06286E-6" "01804" "BPTF_000089" "g.65944280G>A" "" "" "" "BPTF(NM_182641.4):c.7784G>A (p.(Arg2595His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042126" "0" "30" "17" "65952124" "65952124" "subst" "0" "01804" "BPTF_000090" "g.65952124T>C" "" "" "" "BPTF(NM_182641.4):c.7927-3533T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042127" "0" "30" "17" "65959765" "65959766" "del" "0" "01804" "BPTF_000091" "g.65959765_65959766del" "" "" "" "BPTF(NM_182641.4):c.8262-563_8262-562del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042129" "0" "30" "17" "65978019" "65978020" "del" "0" "01804" "BPTF_000092" "g.65978019_65978020del" "" "" "" "BPTF(NM_182641.4):c.8727-349_8727-348del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042130" "0" "50" "17" "65978657" "65978657" "subst" "0" "01804" "BPTF_000093" "g.65978657T>C" "" "" "" "BPTF(NM_182641.4):c.*253T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056149" "0" "50" "17" "65850091" "65850093" "del" "0" "01804" "BPTF_000094" "g.65850091_65850093del" "" "" "" "BPTF(NM_182641.4):c.649_651del (p.(Pro217del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056150" "0" "50" "17" "65850761" "65850761" "subst" "0" "01804" "BPTF_000095" "g.65850761C>G" "" "" "" "BPTF(NM_182641.4):c.1319C>G (p.(Pro440Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056151" "0" "30" "17" "65862813" "65862813" "subst" "1.65876E-5" "01804" "BPTF_000096" "g.65862813G>A" "" "" "" "BPTF(NM_182641.4):c.1660+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056152" "0" "50" "17" "65871810" "65871812" "del" "0" "01804" "BPTF_000097" "g.65871810_65871812del" "" "" "" "BPTF(NM_004459.7):c.2003_2005del (p.(Ser668del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056153" "0" "30" "17" "65908153" "65908153" "subst" "2.45726E-5" "01804" "BPTF_000098" "g.65908153A>G" "" "" "" "BPTF(NM_182641.4):c.4153A>G (p.(Thr1385Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056154" "0" "50" "17" "65914924" "65914924" "subst" "1.62509E-5" "01804" "BPTF_000099" "g.65914924G>T" "" "" "" "BPTF(NM_182641.4):c.5398G>T (p.(Ala1800Ser))" "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 BPTF ## Count = 94 "{{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}}" "0000172724" "00024281" "99" "2860" "0" "2860" "0" "c.2860dup" "r.(?)" "p.(Glu954Glyfs*5)" "9" "0000172725" "00024281" "99" "5216" "0" "5217" "0" "c.5216_5217del" "r.(?)" "p.(Val1739Glyfs*96)" "13" "0000172726" "00024281" "99" "8650" "0" "8650" "0" "c.8650A>T" "r.(?)" "p.(Lys2884*)" "29" "0000172727" "00024281" "99" "-121653" "0" "2922" "-3575" "c.-121653_2922-3575del" "r.0" "p.0" "_1_9i" "0000172728" "00024281" "99" "2922" "-1506" "17289" "0" "c.2922-1506_*8577del" "r.0?" "p.0?" "9i_30_" "0000172729" "00024281" "99" "3360" "0" "3370" "1" "c.3360_3370+1del" "r.spl" "p.0?" "12_12i" "0000172730" "00024281" "55" "5770" "0" "5770" "0" "c.5770G>A" "r.(?)" "p.(Ala1924Thr)" "14" "0000172731" "00024281" "55" "8558" "0" "8558" "0" "c.8558T>G" "r.(?)" "p.(Met2853Arg)" "29" "0000172732" "00024281" "99" "989" "0" "989" "0" "c.989del" "r.(?)" "p.(Leu330Argfs*28)" "2" "0000172733" "00024281" "77" "8211" "-2" "8211" "-2" "c.8211-2A>G" "r.spl" "p.0?" "26i" "0000172734" "00024281" "99" "2744" "0" "2744" "0" "c.2744del" "r.(?)" "p.(Asn915Thrfs*36)" "8" "0000263738" "00024281" "30" "2391" "0" "2391" "0" "c.2391C>T" "r.(?)" "p.(Ala797=)" "" "0000263739" "00024281" "10" "554" "0" "556" "0" "c.554_556del" "r.(?)" "p.(Asp185del)" "" "0000263740" "00024281" "50" "6334" "0" "6334" "0" "c.6334C>T" "r.(?)" "p.(Gln2112Ter)" "" "0000263741" "00024281" "50" "7732" "0" "7732" "0" "c.7732C>T" "r.(?)" "p.(Arg2578Cys)" "" "0000347804" "00024281" "50" "8558" "0" "8558" "0" "c.8558T>G" "r.(?)" "p.(Met2853Arg)" "" "0000562841" "00024281" "50" "2231" "0" "2231" "0" "c.2231A>G" "r.(?)" "p.(Gln744Arg)" "" "0000562842" "00024281" "90" "2780" "0" "2781" "0" "c.2780_2781insTGAT" "r.(?)" "p.(Ser928AspfsTer4)" "" "0000562844" "00024281" "30" "2943" "0" "2943" "0" "c.2943T>G" "r.(?)" "p.(Ile981Met)" "" "0000562845" "00024281" "30" "3328" "0" "3328" "0" "c.3328A>G" "r.(?)" "p.(Asn1110Asp)" "" "0000562848" "00024281" "30" "4022" "0" "4022" "0" "c.4022T>C" "r.(?)" "p.(Ile1341Thr)" "" "0000562849" "00024281" "30" "4292" "0" "4292" "0" "c.4292A>G" "r.(?)" "p.(Asp1431Gly)" "" "0000562850" "00024281" "50" "5731" "0" "5731" "0" "c.5731C>T" "r.(?)" "p.(Arg1911Trp)" "" "0000680988" "00024281" "30" "7566" "202" "7566" "202" "c.7566+202C>T" "r.(=)" "p.(=)" "" "0000680989" "00024281" "30" "8001" "0" "8002" "0" "c.8001_8002insGCCCCTCCAGCCCCTCCAGCCCCTCCA" "r.(?)" "p.(Ala2659_Pro2667dup)" "" "0000692447" "00024281" "70" "3233" "0" "3237" "0" "c.3233_3237del" "r.(?)" "p.(Arg1078MetfsTer13)" "" "0000726630" "00024281" "70" "5936" "-1" "5936" "-1" "c.5936-1G>A" "r.spl?" "p.?" "" "0000808228" "00024281" "30" "1996" "0" "1996" "0" "c.1996G>A" "r.(?)" "p.(Asp666Asn)" "" "0000808229" "00024281" "50" "8368" "0" "8368" "0" "c.8368T>G" "r.(?)" "p.(Tyr2790Asp)" "" "0000808230" "00024281" "50" "8403" "1" "8403" "1" "c.8403+1G>A" "r.spl?" "p.?" "" "0000814502" "00024281" "50" "6607" "0" "6607" "0" "c.6607A>G" "r.(?)" "p.(Ile2203Val)" "" "0000814503" "00024281" "50" "4022" "0" "4022" "0" "c.4022T>C" "r.(?)" "p.(Ile1341Thr)" "" "0000894215" "00024281" "70" "1369" "0" "1369" "0" "c.1369C>T" "r.(?)" "p.(Arg457*)" "" "0000894216" "00024281" "70" "1527" "0" "1527" "0" "c.1527A>C" "r.(?)" "p.(Lys509Asn)" "" "0000894217" "00024281" "50" "2790" "-3" "2790" "-3" "c.2790-3C>T" "r.spl?" "p.?" "" "0000894218" "00024281" "30" "4292" "0" "4292" "0" "c.4292A>G" "r.(?)" "p.(Asp1431Gly)" "" "0000894219" "00024281" "50" "5674" "0" "5674" "0" "c.5674A>T" "r.(?)" "p.(Thr1892Ser)" "" "0000926632" "00024281" "50" "2114" "0" "2114" "0" "c.2114C>T" "r.(?)" "p.(Pro705Leu)" "" "0000951022" "00024281" "50" "3524" "0" "3524" "0" "c.3524C>T" "r.(?)" "p.(Thr1175Ile)" "" "0000969189" "00024281" "30" "244" "0" "246" "0" "c.244_246del" "r.(?)" "p.(Pro82del)" "" "0000969191" "00024281" "50" "2976" "0" "2976" "0" "c.2976del" "r.(?)" "p.(Glu993Argfs*16)" "" "0000982733" "00024281" "50" "255" "0" "255" "0" "c.255dup" "r.(?)" "p.(Ser86Glnfs*43)" "" "0000982734" "00024281" "30" "2922" "-3" "2922" "-3" "c.2922-3T>A" "r.spl?" "p.?" "" "0000982735" "00024281" "30" "3051" "19" "3051" "19" "c.3051+19C>G" "r.(=)" "p.(=)" "" "0000982736" "00024281" "50" "3438" "0" "3440" "0" "c.3438_3440del" "r.(?)" "p.(Asp1147del)" "" "0000982737" "00024281" "30" "4427" "0" "4427" "0" "c.4427C>T" "r.(?)" "p.(Pro1476Leu)" "" "0001003594" "00024281" "30" "554" "0" "556" "0" "c.554_556del" "r.(?)" "p.(Asp185del)" "" "0001003595" "00024281" "30" "1501" "0" "1501" "0" "c.1501G>A" "r.(?)" "p.(Ala501Thr)" "" "0001003596" "00024281" "30" "2012" "0" "2012" "0" "c.2012C>A" "r.(?)" "p.(Ala671Glu)" "" "0001003597" "00024281" "30" "2180" "0" "2180" "0" "c.2180C>T" "r.(?)" "p.(Ala727Val)" "" "0001003598" "00024281" "30" "2879" "0" "2879" "0" "c.2879T>G" "r.(?)" "p.(Val960Gly)" "" "0001003599" "00024281" "50" "3520" "0" "3520" "0" "c.3520A>G" "r.(?)" "p.(Arg1174Gly)" "" "0001003600" "00024281" "70" "3861" "0" "3861" "0" "c.3861T>G" "r.(?)" "p.(Tyr1287*)" "" "0001003601" "00024281" "30" "4808" "0" "4808" "0" "c.4808A>C" "r.(?)" "p.(Glu1603Ala)" "" "0001003602" "00024281" "50" "4970" "0" "4970" "0" "c.4970T>A" "r.(?)" "p.(Val1657Glu)" "" "0001003603" "00024281" "30" "5196" "0" "5196" "0" "c.5196A>T" "r.(?)" "p.(Glu1732Asp)" "" "0001003604" "00024281" "50" "5354" "0" "5354" "0" "c.5354C>T" "r.(?)" "p.(Thr1785Met)" "" "0001003605" "00024281" "30" "5395" "0" "5395" "0" "c.5395G>A" "r.(?)" "p.(Val1799Ile)" "" "0001003606" "00024281" "50" "5846" "0" "5848" "0" "c.5846_5848del" "r.(?)" "p.(Lys1949del)" "" "0001003607" "00024281" "30" "6161" "0" "6161" "0" "c.6161T>C" "r.(?)" "p.(Ile2054Thr)" "" "0001003608" "00024281" "30" "6469" "0" "6469" "0" "c.6469G>A" "r.(?)" "p.(Ala2157Thr)" "" "0001003609" "00024281" "30" "6562" "0" "6562" "0" "c.6562A>C" "r.(?)" "p.(Thr2188Pro)" "" "0001003610" "00024281" "50" "6628" "0" "6628" "0" "c.6628G>C" "r.(?)" "p.(Val2210Leu)" "" "0001003611" "00024281" "50" "6947" "0" "6947" "0" "c.6947C>A" "r.(?)" "p.(Pro2316Gln)" "" "0001003612" "00024281" "50" "7046" "0" "7046" "0" "c.7046C>T" "r.(?)" "p.(Thr2349Ile)" "" "0001003613" "00024281" "30" "7566" "86" "7566" "86" "c.7566+86T>G" "r.(=)" "p.(=)" "" "0001003614" "00024281" "30" "7566" "188" "7566" "188" "c.7566+188A>C" "r.(=)" "p.(=)" "" "0001003615" "00024281" "50" "8405" "0" "8405" "0" "c.8405C>T" "r.(?)" "p.(Ala2802Val)" "" "0001027046" "00024281" "50" "4573" "0" "4573" "0" "c.4573G>A" "r.(?)" "p.(Gly1525Arg)" "" "0001029400" "00024281" "70" "4555" "0" "4555" "0" "c.4555C>T" "r.(?)" "p.(Arg1519*)" "13" "0001042112" "00024281" "30" "535" "0" "535" "0" "c.535A>G" "r.(?)" "p.(Met179Val)" "" "0001042113" "00024281" "30" "614" "-4160" "614" "-4160" "c.614-4160A>C" "r.(=)" "p.(=)" "" "0001042114" "00024281" "30" "1657" "0" "1657" "0" "c.1657A>G" "r.(?)" "p.(Asn553Asp)" "" "0001042115" "00024281" "30" "2053" "6" "2053" "6" "c.2053+6G>C" "r.(=)" "p.(=)" "" "0001042116" "00024281" "30" "2922" "-69" "2922" "-69" "c.2922-69G>A" "r.(=)" "p.(=)" "" "0001042117" "00024281" "50" "3778" "0" "3778" "0" "c.3778G>A" "r.(?)" "p.(Glu1260Lys)" "" "0001042118" "00024281" "30" "4085" "0" "4085" "0" "c.4085C>T" "r.(?)" "p.(Pro1362Leu)" "" "0001042119" "00024281" "30" "4577" "0" "4577" "0" "c.4577A>G" "r.(?)" "p.(Gln1526Arg)" "" "0001042120" "00024281" "30" "4630" "0" "4630" "0" "c.4630T>A" "r.(?)" "p.(Leu1544Met)" "" "0001042121" "00024281" "30" "4700" "0" "4700" "0" "c.4700A>G" "r.(?)" "p.(Asn1567Ser)" "" "0001042122" "00024281" "50" "6295" "0" "6295" "0" "c.6295C>T" "r.(?)" "p.(Pro2099Ser)" "" "0001042123" "00024281" "30" "6607" "0" "6607" "0" "c.6607A>G" "r.(?)" "p.(Ile2203Val)" "" "0001042124" "00024281" "30" "6638" "-703" "6638" "-703" "c.6638-703C>T" "r.(=)" "p.(=)" "" "0001042125" "00024281" "30" "7733" "0" "7733" "0" "c.7733G>A" "r.(?)" "p.(Arg2578His)" "" "0001042126" "00024281" "30" "7876" "-3533" "7876" "-3533" "c.7876-3533T>C" "r.(=)" "p.(=)" "" "0001042127" "00024281" "30" "8211" "-563" "8211" "-562" "c.8211-563_8211-562del" "r.(=)" "p.(=)" "" "0001042129" "00024281" "30" "8676" "-349" "8676" "-348" "c.8676-349_8676-348del" "r.(=)" "p.(=)" "" "0001042130" "00024281" "50" "8965" "0" "8965" "0" "c.*253T>C" "r.(=)" "p.(=)" "" "0001056149" "00024281" "50" "649" "0" "651" "0" "c.649_651del" "r.(?)" "p.(Pro217del)" "" "0001056150" "00024281" "50" "1319" "0" "1319" "0" "c.1319C>G" "r.(?)" "p.(Pro440Arg)" "" "0001056151" "00024281" "30" "1660" "10" "1660" "10" "c.1660+10G>A" "r.(=)" "p.(=)" "" "0001056152" "00024281" "50" "2003" "0" "2005" "0" "c.2003_2005del" "r.(?)" "p.(Ser668del)" "" "0001056153" "00024281" "30" "4531" "0" "4531" "0" "c.4531A>G" "r.(?)" "p.(Thr1511Ala)" "" "0001056154" "00024281" "50" "5776" "0" "5776" "0" "c.5776G>T" "r.(?)" "p.(Ala1926Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000106986" "0000172724" "0000106987" "0000172725" "0000106988" "0000172726" "0000106989" "0000172727" "0000106990" "0000172728" "0000106991" "0000172729" "0000106992" "0000172730" "0000106993" "0000172731" "0000106994" "0000172732" "0000106995" "0000172733" "0000386680" "0000814502" "0000386680" "0000814503" "0000465703" "0001029400"