### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NFIB) # 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}}" "NFIB" "nuclear factor I/B" "9" "p24.1" "unknown" "NC_000009.11" "UD_132438322524" "" "https://www.LOVD.nl/NFIB" "" "1" "7785" "4781" "600728" "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/NFIB_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-02-17 13:13:02" "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}}" "00025378" "NFIB" "transcript variant 1" "007" "NM_001190737.1" "" "NP_001177666.1" "" "" "" "-535" "7951" "1485" "14314045" "14081842" "00006" "2019-02-17 12:35:57" "" "" ## 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" "06824" "MACID" "Macrocephaly, acquired, with impaired intellectual development" "AD" "618286" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "07004" "NEDHFS" "neurodevelopmental disorder with hypotonia, dysmorphic facies, skin abnormalities" "AR" "620191" "" "" "" "00006" "2023-02-08 20:03:36" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "NFIB" "06824" ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{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}}" "00225489" "" "" "" "1" "" "00006" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "30388402-Pat1" "00225490" "" "" "" "1" "" "00006" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "30388402-Pat2" "00225491" "" "" "" "1" "" "00006" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "30388402-Pat3" "00225492" "" "" "" "1" "" "00006" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "30388402-Pat4" "00225493" "" "" "" "1" "" "00006" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "30388402-Pat5" "00225494" "" "" "" "2" "" "00006" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "2-generation family, affected mother/son" "F;M" "" "" "" "0" "" "" "Jewish-Ashkenazi;Jewish-Sephardic" "30388402-Pat6a/b" "00225495" "" "" "" "1" "" "00006" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "30388402-Pat7" "00225496" "" "" "" "2" "" "00006" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "2-generation family, affected sisters, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "30388402-Pat8a/b" "00225497" "" "" "" "1" "" "00006" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "white" "30388402-Pat9" "00225498" "" "" "" "2" "" "00006" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "2-generation family, affected mother/daughter" "F" "" "" "" "0" "" "" "" "30388402-Pat10a/b" "00225499" "" "" "" "1" "" "00006" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "30388402-Pat11" "00225500" "" "" "" "1" "" "00006" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "adopted" "M" "" "" "" "0" "" "" "" "30388402-Pat12" "00225501" "" "" "" "1" "" "00006" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "" "F" "" "" "" "0" "" "" "" "30388402-Pat13" "00225502" "" "" "" "1" "" "00006" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "white" "30388402-Pat14" "00225503" "" "" "" "1" "" "00006" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "white" "30388402-Pat15" "00225504" "" "" "" "1" "" "00006" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "fetus" "M" "" "" "" "0" "" "" "" "30388402-Pat16" "00433668" "" "" "" "1" "" "03544" "" "" "" "" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 17 "{{individualid}}" "{{diseaseid}}" "00225489" "00139" "00225490" "00139" "00225491" "00139" "00225492" "00139" "00225493" "00139" "00225494" "00139" "00225495" "00139" "00225496" "00139" "00225497" "00139" "00225498" "00139" "00225499" "00139" "00225500" "00139" "00225501" "00139" "00225502" "00139" "00225503" "00139" "00225504" "00139" "00433668" "07004" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 06824, 07004 ## Count = 17 "{{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}}" "0000170603" "00139" "00225489" "00006" "Isolated (sporadic)" "16y" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000170604" "00139" "00225490" "00006" "Isolated (sporadic)" "7y" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000170605" "00139" "00225491" "00006" "Isolated (sporadic)" "7y" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000170606" "00139" "00225492" "00006" "Isolated (sporadic)" "32y" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000170607" "00139" "00225493" "00006" "Isolated (sporadic)" "8y" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000170608" "00139" "00225494" "00006" "Familial, autosomal dominant" "" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000170609" "00139" "00225495" "00006" "Isolated (sporadic)" "3y" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000170610" "00139" "00225496" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000170611" "00139" "00225497" "00006" "Isolated (sporadic)" "6y" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000170612" "00139" "00225498" "00006" "Familial, autosomal dominant" "" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000170613" "00139" "00225499" "00006" "Isolated (sporadic)" "8y4m" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000170614" "00139" "00225500" "00006" "Isolated (sporadic)" "32y" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000170615" "00139" "00225501" "00006" "Isolated (sporadic)" "7y10m" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000170616" "00139" "00225502" "00006" "Isolated (sporadic)" "17y" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000170617" "00139" "00225503" "00006" "Isolated (sporadic)" "8y" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000170618" "00139" "00225504" "00006" "Isolated (sporadic)" "<0d" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability" "0000324091" "07004" "00433668" "03544" "Familial, autosomal dominant" "" "moderate intellectual disability, facial abnormality" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000226568" "00225489" "1" "00006" "00006" "2019-02-17 13:07:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226569" "00225490" "1" "00006" "00006" "2019-02-17 13:07:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226570" "00225491" "1" "00006" "00006" "2019-02-17 13:07:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226571" "00225492" "1" "00006" "00006" "2019-02-17 13:07:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226572" "00225493" "1" "00006" "00006" "2019-02-17 13:07:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226573" "00225494" "1" "00006" "00006" "2019-02-17 13:07:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226574" "00225495" "1" "00006" "00006" "2019-02-17 13:07:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226575" "00225496" "1" "00006" "00006" "2019-02-17 13:07:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226576" "00225497" "1" "00006" "00006" "2019-02-17 13:07:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226577" "00225498" "1" "00006" "00006" "2019-02-17 13:07:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226578" "00225499" "1" "00006" "00006" "2019-02-17 13:07:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226579" "00225500" "1" "00006" "00006" "2019-02-17 13:07:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226580" "00225501" "1" "00006" "00006" "2019-02-17 13:07:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226581" "00225502" "1" "00006" "00006" "2019-02-17 13:07:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226582" "00225503" "1" "00006" "00006" "2019-02-17 13:07:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226583" "00225504" "1" "00006" "00006" "2019-02-17 13:07:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000435126" "00433668" "1" "03544" "03544" "2023-03-12 20:51:28" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{geneid}}" "0000226568" "NFIB" "0000226569" "NFIB" "0000226570" "NFIB" "0000226571" "NFIB" "0000226572" "NFIB" "0000226573" "NFIB" "0000226574" "NFIB" "0000226575" "NFIB" "0000226576" "NFIB" "0000226577" "NFIB" "0000226578" "NFIB" "0000226579" "NFIB" "0000226580" "NFIB" "0000226581" "NFIB" "0000226582" "NFIB" "0000226583" "NFIB" ## 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}}" "0000347427" "0" "50" "9" "14307093" "14307093" "subst" "0" "02327" "NFIB_000002" "g.14307093T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14307094T>C" "" "VUS" "" "0000458907" "0" "90" "9" "14307441" "14307441" "subst" "0" "00006" "NFIB_000001" "g.14307441G>A" "" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "" "" "" "De novo" "" "" "0" "" "" "g.14307442G>A" "" "pathogenic (dominant)" "" "0000458908" "0" "90" "9" "14307285" "14307285" "subst" "0" "00006" "NFIB_000003" "g.14307285G>A" "" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.14307286G>A" "" "pathogenic (dominant)" "" "0000458909" "0" "90" "9" "14307209" "14307209" "subst" "0" "00006" "NFIB_000004" "g.14307209T>G" "" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.14307210T>G" "" "pathogenic (dominant)" "" "0000458910" "0" "90" "9" "14307174" "14307174" "subst" "0" "00006" "NFIB_000005" "g.14307174T>C" "" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "" "" "" "De novo" "" "" "0" "" "" "g.14307175T>C" "" "pathogenic (dominant)" "" "0000458911" "0" "90" "9" "14307155" "14307155" "subst" "0" "00006" "NFIB_000006" "g.14307155A>G" "" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "" "" "" "De novo" "" "" "0" "" "" "g.14307156A>G" "" "pathogenic (dominant)" "" "0000458912" "0" "90" "9" "14150191" "14150192" "dup" "0" "00006" "NFIB_000007" "g.14150191_14150192dup" "" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "" "758_759dupTG" "" "De novo" "yes" "" "0" "" "" "g.14150192_14150193dup" "" "pathogenic (dominant)" "" "0000458913" "0" "90" "9" "14120609" "14120622" "del" "0" "00006" "NFIB_000008" "g.14120609_14120622del" "" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "" "" "" "De novo" "" "" "0" "" "" "g.14120610_14120623del" "" "pathogenic (dominant)" "" "0000458914" "1" "90" "9" "14098659" "14324147" "del" "0" "00006" "NFIB_000009" "g.(14088326_14098659)_(14324147_14398522)del" "" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "" "14098659_14324147x1" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000458915" "0" "90" "9" "14102175" "14386038" "del" "0" "00006" "NFIB_000010" "g.(14088326_14102175)_(14386038_14398522)del" "" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "" "14102175_14386038 x1" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000458916" "0" "90" "9" "13974415" "14286259" "del" "0" "00006" "NFIB_000011" "g.(?_13974415)_(14286259_14306987)del" "" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "" "13974415_14286259 x1" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000458917" "0" "90" "9" "13106806" "14639971" "del" "0" "00006" "NFIB_000012" "g.(?_13106806)_(14639971_?)del" "" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "" "13106806_14639971 x1" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000458918" "0" "90" "9" "13034407" "14653394" "del" "0" "00006" "NFIB_000012" "g.(?_13034407)_(14653394_?)del" "" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "" "13034407_14653394 x1" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000458919" "0" "90" "9" "14178768" "16619009" "del" "0" "00006" "NFIB_000013" "g.(14155893_14178768)_(16619009_?)del" "" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "" "14178768_16619009 x1" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000458920" "0" "90" "9" "13563537" "18491752" "del" "0" "00006" "NFIB_000012" "g.(?_13563537)_(18491752_?)del" "" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "" "13563537_18491752 x1" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000458921" "0" "90" "9" "13739630" "18023839" "del" "0" "00006" "NFIB_000012" "g.(?_13739630)_(18023839_?)del" "" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "" "13739630_18023839 x1" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000458922" "0" "90" "9" "14120617" "14120617" "subst" "0" "00006" "NFIB_000014" "g.14120617G>A" "" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "" "" "" "De novo" "" "" "0" "" "" "g.14120618G>A" "" "pathogenic (dominant)" "" "0000537672" "0" "30" "9" "14150140" "14150140" "subst" "4.07272E-6" "01804" "NFIB_000015" "g.14150140G>A" "" "" "" "NFIB(NM_001190737.1):c.806+4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14150141G>A" "" "likely benign" "" "0000537673" "0" "50" "9" "14307408" "14307408" "subst" "0" "01943" "NFIB_000016" "g.14307408G>A" "" "" "" "NFIB(NM_001190737.2):c.142C>T (p.R48*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14307409G>A" "" "VUS" "" "0000678638" "0" "30" "9" "14179741" "14179741" "subst" "0" "02327" "NFIB_000017" "g.14179741C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690494" "0" "50" "9" "14313500" "14313500" "subst" "0" "02325" "NFIB_000018" "g.14313500G>A" "" "" "" "NFIB(NM_001190737.2):c.11C>T (p.S4F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722451" "0" "30" "9" "14116327" "14116327" "subst" "0.00149649" "02325" "NFIB_000019" "g.14116327C>G" "" "" "" "NFIB(NM_001190737.2):c.1264G>C (p.V422L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722452" "0" "50" "9" "14307000" "14307000" "subst" "4.07435E-6" "01804" "NFIB_000020" "g.14307000C>T" "" "" "" "NFIB(NM_001190737.1):c.550G>A (p.(Val184Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722453" "0" "70" "9" "14307441" "14307441" "subst" "0" "02329" "NFIB_000001" "g.14307441G>A" "" "" "" "NFIB(NM_001190737.2):c.109C>T (p.R37*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000804037" "0" "70" "9" "14179755" "14179771" "del" "0" "02327" "NFIB_000021" "g.14179755_14179771del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000888768" "0" "70" "9" "14120542" "14120551" "del" "0" "02329" "NFIB_000022" "g.14120542_14120551del" "" "" "" "NFIB(NM_001369461.1):c.1134_1143delATCGAGCTAC (p.S379Ffs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000888769" "0" "30" "9" "14146714" "14146714" "subst" "0.000216468" "02325" "NFIB_000023" "g.14146714C>T" "" "" "" "NFIB(NM_001190737.2):c.899G>A (p.S300N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913136" "0" "70" "9" "14113048" "14113048" "subst" "0" "02327" "NFIB_000024" "g.14113048G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000921065" "11" "90" "9" "14155847" "14155847" "subst" "0" "03544" "NFIB_000025" "g.14155847G>C" "" "" "" "" "inherited from father with intellectual disability" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (paternal)" "ACMG" "0000978623" "0" "30" "9" "14155900" "14155900" "subst" "0" "01804" "NFIB_000026" "g.14155900T>C" "" "" "" "NFIB(NM_001190737.2):c.617-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978624" "0" "50" "9" "14307440" "14307440" "subst" "8.12572E-6" "01804" "NFIB_000027" "g.14307440C>T" "" "" "" "NFIB(NM_001190737.2):c.110G>A (p.(Arg37Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997777" "0" "30" "9" "14150196" "14150196" "subst" "0" "01804" "NFIB_000028" "g.14150196C>G" "" "" "" "NFIB(NM_001190737.1):c.754G>C (p.(Asp252His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997778" "0" "50" "9" "14155819" "14155819" "subst" "0" "01804" "NFIB_000029" "g.14155819C>A" "" "" "" "NFIB(NM_001190737.1):c.685+5G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997779" "0" "50" "9" "14307435" "14307435" "subst" "0" "01804" "NFIB_000030" "g.14307435G>A" "" "" "" "NFIB(NM_001190737.1):c.115C>T (p.(Arg39Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997780" "0" "30" "9" "14398597" "14398597" "subst" "0" "01804" "NFIB_000031" "g.14398597C>G" "" "" "" "NFIB(NM_001190738.1):c.34G>C (p.(Val12Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053209" "0" "30" "9" "14155853" "14155853" "subst" "1.29962E-5" "01804" "NFIB_000032" "g.14155853T>C" "" "" "" "NFIB(NM_001190737.2):c.656A>G (p.(Asn219Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053210" "0" "30" "9" "14295362" "14295362" "subst" "0" "01804" "NFIB_000033" "g.14295362T>G" "" "" "" "NFIB(NM_001190737.2):c.562+11626A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001065045" "0" "50" "9" "14120449" "14120449" "subst" "4.06359E-6" "02325" "NFIB_000034" "g.14120449T>G" "" "" "" "" "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 NFIB ## 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}}" "0000347427" "00025378" "50" "457" "0" "457" "0" "c.457A>G" "r.(?)" "p.(Lys153Glu)" "" "0000458907" "00025378" "90" "109" "0" "109" "0" "c.109C>T" "r.(?)" "p.(Arg37*)" "" "0000458908" "00025378" "90" "265" "0" "265" "0" "c.265C>T" "r.(?)" "p.(Arg89*)" "" "0000458909" "00025378" "90" "341" "0" "341" "0" "c.341A>C" "r.(?)" "p.(Lys114Thr)" "" "0000458910" "00025378" "90" "376" "0" "376" "0" "c.376A>G" "r.(?)" "p.(Lys126Glu)" "" "0000458911" "00025378" "90" "395" "0" "395" "0" "c.395T>C" "r.(?)" "p.(Leu132Pro)" "" "0000458912" "00025378" "90" "758" "0" "759" "0" "c.758_759dup" "r.(?)" "p.(Asn254*)" "" "0000458913" "00025378" "90" "1063" "0" "1076" "0" "c.1063_1076del" "r.(?)" "p.(Ile355Serfs*48)" "" "0000458914" "00025378" "90" "-10637" "0" "1468" "-10334" "c.(?_-10637)_(1468-10334_1468-1)del" "r.0?" "p.0?" "" "0000458915" "00025378" "90" "-72528" "0" "1467" "10823" "c.(?_-72528)_(1467+10823_1468-1)del" "r.0?" "p.0?" "" "0000458916" "00025378" "90" "0" "0" "0" "0" "c.(562+1_562+20729)_(*113893_)del" "r.?" "p.?" "" "0000458917" "00025378" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000458918" "00025378" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000458919" "00025378" "90" "-2305499" "0" "616" "958" "c.(?_-2305499)_616+958del" "r.0?" "p.0?" "" "0000458920" "00025378" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000458921" "00025378" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000458922" "00025378" "90" "1067" "0" "1067" "0" "c.1067C>T" "r.(?)" "p.(Ser356Leu)" "" "0000537672" "00025378" "30" "806" "4" "806" "4" "c.806+4C>T" "r.spl?" "p.?" "" "0000537673" "00025378" "50" "142" "0" "142" "0" "c.142C>T" "r.(?)" "p.(Arg48Ter)" "" "0000678638" "00025378" "30" "601" "0" "601" "0" "c.601G>C" "r.(?)" "p.(Ala201Pro)" "" "0000690494" "00025378" "50" "11" "0" "11" "0" "c.11C>T" "r.(?)" "p.(Ser4Phe)" "" "0000722451" "00025378" "30" "1264" "0" "1264" "0" "c.1264G>C" "r.(?)" "p.(Val422Leu)" "" "0000722452" "00025378" "50" "550" "0" "550" "0" "c.550G>A" "r.(?)" "p.(Val184Met)" "" "0000722453" "00025378" "70" "109" "0" "109" "0" "c.109C>T" "r.(?)" "p.(Arg37Ter)" "" "0000804037" "00025378" "70" "572" "0" "588" "0" "c.572_588del" "r.(?)" "p.(Gln191Profs*3)" "" "0000888768" "00025378" "70" "1134" "0" "1143" "0" "c.1134_1143del" "r.(?)" "p.(Ser379Phefs*12)" "" "0000888769" "00025378" "30" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Ser300Asn)" "" "0000913136" "00025378" "70" "1417" "0" "1417" "0" "c.1417C>T" "r.(?)" "p.(Arg473*)" "" "0000921065" "00025378" "90" "662" "0" "662" "0" "c.662C>G" "r.(?)" "p.(Ser221*)" "" "0000978623" "00025378" "30" "617" "-8" "617" "-8" "c.617-8A>G" "r.(=)" "p.(=)" "" "0000978624" "00025378" "50" "110" "0" "110" "0" "c.110G>A" "r.(?)" "p.(Arg37Gln)" "" "0000997777" "00025378" "30" "754" "0" "754" "0" "c.754G>C" "r.(?)" "p.(Asp252His)" "" "0000997778" "00025378" "50" "685" "5" "685" "5" "c.685+5G>T" "r.spl?" "p.?" "" "0000997779" "00025378" "50" "115" "0" "115" "0" "c.115C>T" "r.(?)" "p.(Arg39Cys)" "" "0000997780" "00025378" "30" "-85087" "0" "-85087" "0" "c.-85087G>C" "r.(?)" "p.(=)" "" "0001053209" "00025378" "30" "656" "0" "656" "0" "c.656A>G" "r.(?)" "p.(Asn219Ser)" "" "0001053210" "00025378" "30" "562" "11626" "562" "11626" "c.562+11626A>C" "r.(=)" "p.(=)" "" "0001065045" "00025378" "50" "1235" "0" "1235" "0" "c.1235A>C" "r.(?)" "p.(Gln412Pro)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000226568" "0000458907" "0000226569" "0000458908" "0000226570" "0000458909" "0000226571" "0000458910" "0000226572" "0000458911" "0000226573" "0000458912" "0000226574" "0000458913" "0000226575" "0000458914" "0000226576" "0000458915" "0000226577" "0000458916" "0000226578" "0000458917" "0000226579" "0000458918" "0000226580" "0000458919" "0000226581" "0000458920" "0000226582" "0000458921" "0000226583" "0000458922" "0000435126" "0000921065"