### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SIN3B) # 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}}" "SIN3B" "SIN3 transcription regulator homolog B (yeast)" "19" "p13.12" "unknown" "NC_000019.9" "UD_136019704955" "" "https://www.LOVD.nl/SIN3B" "" "1" "19354" "23309" "607777" "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/SIN3B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-05-09 21:20:04" "00006" "2026-03-26 10:48:49" ## 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}}" "00018933" "SIN3B" "SIN3 transcription regulator homolog B (yeast)" "001" "NM_015260.2" "" "NP_056075.1" "" "" "" "-23" "5115" "3489" "16940209" "16991164" "" "0000-00-00 00:00:00" "" "" ## 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" "00356" "MCOP" "anoophthalmia/microphthalmia" "" "" "" "" "" "00006" "2014-03-14 18:41:31" "00006" "2025-11-23 21:29:13" "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 = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00183687" "" "" "" "1" "" "00006" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "" "" "Spain" "" "0" "" "" "" "27620904-Pat32" "00372557" "" "" "" "1" "" "00006" "{PMID:Latypova 2021:33811806}, {DOI:Latypova 2021:10.1016/j.ajhg.2021.03.017}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat1-Decipher332280" "00372558" "" "" "" "1" "" "00006" "{PMID:Latypova 2021:33811806}, {DOI:Latypova 2021:10.1016/j.ajhg.2021.03.017}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat2-Decipher262142" "00372559" "" "" "" "1" "" "00006" "{PMID:Latypova 2021:33811806}, {DOI:Latypova 2021:10.1016/j.ajhg.2021.03.017}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat3" "00372560" "" "" "" "1" "" "00006" "{PMID:Latypova 2021:33811806}, {DOI:Latypova 2021:10.1016/j.ajhg.2021.03.017}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat4" "00372561" "" "" "" "1" "" "00006" "{PMID:Latypova 2021:33811806}, {DOI:Latypova 2021:10.1016/j.ajhg.2021.03.017}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat5-Decipher308455" "00372562" "" "" "" "1" "" "00006" "{PMID:Latypova 2021:33811806}, {DOI:Latypova 2021:10.1016/j.ajhg.2021.03.017}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat6-Decipher325602" "00372563" "" "" "" "1" "" "00006" "{PMID:Latypova 2021:33811806}, {DOI:Latypova 2021:10.1016/j.ajhg.2021.03.017}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Pat7" "00372564" "" "" "" "1" "" "00006" "{PMID:Latypova 2021:33811806}, {DOI:Latypova 2021:10.1016/j.ajhg.2021.03.017}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat8" "00372565" "" "" "" "1" "" "00006" "{PMID:Latypova 2021:33811806}, {DOI:Latypova 2021:10.1016/j.ajhg.2021.03.017}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Pat9" "00372566" "" "" "" "1" "" "00006" "{PMID:Aten 2009:19353584}, {PMID:Latypova 2021:33811806}, {DOI:Latypova 2021:10.1016/j.ajhg.2021.03.017}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Deciphe4101" "00372567" "" "" "" "1" "" "00006" "{PMID:Bens 2011:21700002}, {PMID:Latypova 2021:33811806}, {DOI:Latypova 2021:10.1016/j.ajhg.2021.03.017}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Germany" "" "0" "" "" "" "patient" "00474860" "" "" "" "1" "" "00006" "{PMID:Seese 2026:41339071}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "white" "Pat5" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00183687" "00139" "00372557" "05611" "00372558" "05611" "00372559" "05611" "00372560" "05611" "00372561" "05611" "00372562" "05611" "00372563" "05611" "00372564" "05611" "00372565" "05611" "00372566" "05611" "00372567" "05611" "00474860" "00356" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00356, 05611 ## Count = 13 "{{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}}" "0000144373" "00139" "00183687" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "0000267870" "05611" "00372557" "00006" "Isolated (sporadic)" "20y" "weight -4 SD, height -2 SD, OFC 0 SD; no developmental delay/intellectual disability (IQ 96); walk-18m; no speech delay; autism spectrum disorder; attention deficit hyperactivity disorder; no epilepsy; MRI brain normal; dysmorphic featuresc; short hands; myopia, daytime hypersomnia, decreased melatonin urinary excretion" "" "" "" "" "" "" "" "" "syndromic intellectual disability" "0000267871" "05611" "00372558" "00006" "Isolated (sporadic)" "11y" "weight +1 SD, height -0.5 SD, OFC -0.5 SD; moderate developmental delay/intellectual disability (IQ 41); walk-2y8m; speech delay; no autism spectrum disorder; attention deficit hyperactivity disorder; no epilepsy; MRI brain normal; dysmorphic featuresc; bilateral fifth fingers clinodactyly, genu recurvatum; ventricular septal defect, bifid uvula, strabismus; ataxia" "" "" "" "" "" "" "" "" "syndromic intellectual disability" "0000267872" "05611" "00372559" "00006" "Isolated (sporadic)" "2y6m" "weight -0.5 SD, height normal, OFC -3 SD; moderate developmental delay/intellectual disability (IQ ND); walk-2y4m; speech delay; no autism spectrum disorder; no epilepsy; MRI brain short corpus callosum, olfactory bulb agenesis; dysmorphic featuresc; no limb abnormalities; ventricular septal defect, left iris coloboma, ocular anterior segment dysgenesis, left cleft lip and palate, micropenis;" "" "" "" "" "" "" "" "" "syndromic intellectual disability" "0000267873" "05611" "00372560" "00006" "Isolated (sporadic)" "8y10m" "weight -1 SD, height +0.5 SD, OFC -1.5 SD; mild developmental delay/intellectual disability (WISC-IV); walk-13m; no speech delay, articulation problems; no autism spectrum disorder; hyperactivity, impulsivity, low frustration tolerance, anxiety; no epilepsy; MRI brain mild tonsillar ectopia; dysmorphic featuresc; clinodactyly 2nd and 5th digits, tapered distal phalanges; bifid uvula, strabismus; umbilical hernia, clumsiness, myopia, hypotonia" "" "" "" "" "" "" "" "" "syndromic intellectual disability" "0000267874" "05611" "00372561" "00006" "Isolated (sporadic)" "3y10m" "weight -0.75 SD, height -1.04 SD, OFC -0.97 SD; mild developmental delay/intellectual disability (IQ ND); walk-24m; no speech delay; no autism spectrum disorder; no epilepsy; dysmorphic featuresc; no limb abnormalities; tetralogy of Fallot, preauricular pit; pectus carinatum" "" "" "" "" "" "" "" "" "syndromic intellectual disability" "0000267875" "05611" "00372562" "00006" "Isolated (sporadic)" "15y" "weight +3 SD, height +2.5 SD, OFC +2.5 SD; mild developmental delay/intellectual disability (IQ ND); walk-24m; speech delay; autism spectrum disorder; aggressive behavior; no epilepsy; MRI brain defects in corpus callosum and subependymal nodular heterotopia; dysmorphic featuresc; no limb abnormalities; conductive hearing loss" "" "" "" "" "" "" "" "" "syndromic intellectual disability" "0000267876" "05611" "00372563" "00006" "Unknown" "50y4m" "weight -1 SD, height -2 SD, OFC normal; mild developmental delay/intellectual disability (IQ 56); walk-ND; speech delay; no autism spectrum disorder; echolalia; epilepsy; MRI brain normal; dysmorphic featuresc; no limb abnormalities; hand tremor" "" "" "" "" "" "" "" "" "syndromic intellectual disability" "0000267877" "05611" "00372564" "00006" "Isolated (sporadic)" "3y" "weight +1.2 SD, height -0.5 SD, OFC -0.5 SD; moderate developmental delay/intellectual disability (IQ ND); walk-22m; speech delay; no autism spectrum disorder; no epilepsy; dysmorphic featuresc; no limb abnormalities; intestinal malrotation" "" "" "" "" "" "" "" "" "syndromic intellectual disability" "0000267878" "05611" "00372565" "00006" "Unknown" "5y" "weight +2 SD, height +2 SD, OFC +2 SD; mild developmental delay/intellectual disability (IQ ND); walk-18m; speech delay; autism spectrum disorder; attention deficit hyperactivity disorder; no epilepsy; dysmorphic featuresc; bilateral radio-ulnar synostosis" "" "" "" "" "" "" "" "" "syndromic intellectual disability" "0000267879" "05611" "00372566" "00006" "Isolated (sporadic)" "6y" "see paper; ..., height -0.3 SD, OFC -1 SD; severe developmental delay/intellectual disability (IQ ND); speech delay; no autism spectrum disorder; no epilepsy; dysmorphic featuresc; split hand and foot malformation; tetralogy of Fallot; strabismus" "" "" "" "" "" "" "" "" "syndromic intellectual disability" "0000267880" "05611" "00372567" "00006" "Isolated (sporadic)" "4y" "see paper; ..., weight -1.4 SD, height -1.9 SD, OFC -3.5 SD; severe developmental delay/intellectual disability (IQ ND); speech delay; no autism spectrum disorder; no epilepsy; dysmorphic featuresc; no limb abnormalities; initial poor feeding, premature pubarche, strabismus, ataxia" "" "" "" "" "" "" "" "" "syndromic intellectual disability" "0000359653" "00356" "00474860" "00006" "Isolated (sporadic)" "" "bilateral iris coloboma, microphthalmia, cataract; non-syndromic" "" "" "" "" "" "" "" "" "colobomatous microphthalmia" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000184655" "00183687" "1" "00006" "00006" "2018-10-27 10:06:27" "" "" "SEQ;SEQ-NG" "DNA" "" "1256 gene panel" "0000373790" "00372557" "1" "00006" "00006" "2021-05-10 09:29:40" "" "" "arraySNP" "DNA" "" "" "0000373791" "00372558" "1" "00006" "00006" "2021-05-10 09:29:40" "" "" "arraySNP" "DNA" "" "" "0000373792" "00372559" "1" "00006" "00006" "2021-05-10 09:29:40" "" "" "arraySNP" "DNA" "" "" "0000373793" "00372560" "1" "00006" "00006" "2021-05-10 09:29:40" "" "" "arraySNP" "DNA" "" "" "0000373794" "00372561" "1" "00006" "00006" "2021-05-10 09:29:40" "" "" "arraySNP" "DNA" "" "" "0000373795" "00372562" "1" "00006" "00006" "2021-05-10 09:29:40" "" "" "SEQ-NG" "DNA" "" "WES" "0000373796" "00372563" "1" "00006" "00006" "2021-05-10 09:29:40" "" "" "SEQ-NG" "DNA" "" "WES" "0000373797" "00372564" "1" "00006" "00006" "2021-05-10 09:29:40" "" "" "SEQ-NG" "DNA" "" "WES" "0000373798" "00372565" "1" "00006" "00006" "2021-05-10 09:29:40" "" "" "SEQ-NG" "DNA" "" "WES" "0000373799" "00372566" "1" "00006" "00006" "2021-05-10 09:29:40" "" "" "arraySNP" "DNA" "" "" "0000373800" "00372567" "1" "00006" "00006" "2021-05-10 09:29:40" "" "" "arraySNP" "DNA" "" "" "0000476542" "00474860" "1" "00006" "00006" "2026-03-26 10:48:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000184655" "SIN3B" "0000373790" "SIN3B" "0000373791" "SIN3B" "0000373792" "SIN3B" "0000373793" "SIN3B" "0000373794" "SIN3B" "0000373795" "SIN3B" "0000373796" "SIN3B" "0000373797" "SIN3B" "0000373798" "SIN3B" "0000373799" "SIN3B" "0000373800" "SIN3B" ## 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 = 42 "{{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}}" "0000408779" "0" "70" "19" "16940262" "16940262" "del" "0" "00006" "SIN3B_000001" "g.16940262del" "" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "31_31delA" "" "De novo" "" "" "0" "" "" "g.16829451del" "" "likely pathogenic" "" "0000784045" "0" "90" "19" "16848440" "17871985" "del" "0" "00006" "SIN3B_000002" "g.(?_16848440)_(17871985_?)del" "" "{PMID:Latypova 2021:33811806}, {DOI:Latypova 2021:10.1016/j.ajhg.2021.03.017}" "" "19: 16848440–17871985" "1.02 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000784046" "0" "90" "19" "15978604" "17500427" "del" "0" "00006" "SIN3B_000002" "g.(?_15978604)_(17500427_?)del" "" "{PMID:Latypova 2021:33811806}, {DOI:Latypova 2021:10.1016/j.ajhg.2021.03.017}" "" "19: 15978604–17500427" "1.52 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000784047" "0" "90" "19" "16599950" "17469382" "del" "0" "00006" "SIN3B_000002" "g.(?_16599950)_(17469382_?)del" "" "{PMID:Latypova 2021:33811806}, {DOI:Latypova 2021:10.1016/j.ajhg.2021.03.017}" "" "19: 16599950–17469382" "869 kb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000784048" "0" "90" "19" "16456955" "17333482" "del" "0" "00006" "SIN3B_000002" "g.(?_16456955)_(17333482_?)del" "" "{PMID:Latypova 2021:33811806}, {DOI:Latypova 2021:10.1016/j.ajhg.2021.03.017}" "" "19: 16456955–17333482" "877 kb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000784049" "0" "90" "19" "16652215" "17079033" "del" "0" "00006" "SIN3B_000002" "g.(?_16652215)_(17079033_?)del" "" "{PMID:Latypova 2021:33811806}, {DOI:Latypova 2021:10.1016/j.ajhg.2021.03.017}" "" "19: 16652215–17079033" "427 kb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000784050" "0" "90" "19" "16940262" "16940262" "del" "0" "00006" "SIN3B_000001" "g.16940262del" "" "{PMID:Latypova 2021:33811806}, {DOI:Latypova 2021:10.1016/j.ajhg.2021.03.017}" "" "31delA" "" "De novo" "" "" "0" "" "" "g.16829451del" "" "pathogenic (dominant)" "" "0000784051" "0" "90" "19" "16976320" "16976320" "del" "0" "00006" "SIN3B_000005" "g.16976320del" "" "{PMID:Latypova 2021:33811806}, {DOI:Latypova 2021:10.1016/j.ajhg.2021.03.017}" "" "1579delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.16865509del" "" "pathogenic (dominant)" "" "0000784052" "0" "90" "19" "16942326" "16942326" "subst" "0" "00006" "SIN3B_000004" "g.16942326C>G" "" "{PMID:Latypova 2021:33811806}, {DOI:Latypova 2021:10.1016/j.ajhg.2021.03.017}" "" "" "" "De novo" "" "" "0" "" "" "g.16831515C>G" "" "pathogenic (dominant)" "" "0000784053" "0" "90" "19" "16940289" "16940289" "subst" "0" "00006" "SIN3B_000003" "g.16940289G>A" "" "{PMID:Latypova 2021:33811806}, {DOI:Latypova 2021:10.1016/j.ajhg.2021.03.017}" "" "" "father unavailable for testing" "Germline/De novo (untested)" "" "" "0" "" "" "g.16829478G>A" "" "pathogenic (dominant)" "" "0000784054" "0" "90" "19" "16548375" "17547292" "del" "0" "00006" "SIN3B_000002" "g.(?_16548375)_(17547292_?)del" "" "{PMID:Aten 2009:19353584}, {PMID:Latypova 2021:33811806}, {DOI:Latypova 2021:10.1016/j.ajhg.2021.03.017}" "" "19: 16548375–17547292" "0.99 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000784055" "0" "90" "19" "16611808" "17733344" "del" "0" "00006" "SIN3B_000002" "g.(?_16611808)_(17733344_?)del" "" "{PMID:Bens 2011:21700002}, {PMID:Latypova 2021:33811806}, {DOI:Latypova 2021:10.1016/j.ajhg.2021.03.017}" "" "19: 16611808–17733344" "1.12 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000894848" "0" "50" "19" "16940232" "16940232" "subst" "0" "02327" "SIN3B_000006" "g.16940232A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915157" "0" "50" "19" "16940621" "16940621" "subst" "0" "02329" "SIN3B_000007" "g.16940621A>G" "" "" "" "SIN3B(NM_015260.4):c.140A>G (p.Y47C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915158" "0" "50" "19" "16940706" "16940706" "subst" "0" "02325" "SIN3B_000008" "g.16940706G>T" "" "" "" "SIN3B(NM_015260.4):c.225G>T (p.Q75H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951242" "0" "50" "19" "16987025" "16987025" "subst" "0" "02326" "SIN3B_000009" "g.16987025G>A" "" "" "" "SIN3B(NM_015260.4):c.2848G>A (p.E950K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969609" "0" "30" "19" "16974604" "16974604" "subst" "3.65577E-5" "02325" "SIN3B_000010" "g.16974604C>T" "" "" "" "SIN3B(NM_015260.4):c.1476C>T (p.F492=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983287" "0" "50" "19" "16952586" "16952586" "subst" "0.00014633" "02325" "SIN3B_000011" "g.16952586C>T" "" "" "" "SIN3B(NM_015260.4):c.389C>T (p.S130L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983288" "0" "30" "19" "16977179" "16977179" "subst" "0.000415026" "01804" "SIN3B_000012" "g.16977179C>T" "" "" "" "SIN3B(NM_001297595.2):c.1623-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983289" "0" "30" "19" "16987019" "16987019" "subst" "5.74581E-5" "01804" "SIN3B_000013" "g.16987019G>T" "" "" "" "SIN3B(NM_001297595.2):c.2746G>T (p.(Ala916Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004491" "0" "30" "19" "16962244" "16962244" "subst" "1.2548E-5" "01804" "SIN3B_000014" "g.16962244G>A" "" "" "" "SIN3B(NM_015260.2):c.748G>A (p.(Glu250Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004492" "0" "30" "19" "16986941" "16986941" "subst" "8.54409E-6" "01804" "SIN3B_000015" "g.16986941G>A" "" "" "" "SIN3B(NM_015260.2):c.2764G>A (p.(Ala922Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004493" "0" "50" "19" "16989013" "16989013" "subst" "0" "01804" "SIN3B_000016" "g.16989013C>T" "" "" "" "SIN3B(NM_015260.2):c.3070C>T (p.(Arg1024Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004494" "0" "30" "19" "16989363" "16989363" "subst" "0" "01804" "SIN3B_000017" "g.16989363G>A" "" "" "" "SIN3B(NM_015260.2):c.3314G>A (p.(Arg1105His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042747" "0" "30" "19" "16962340" "16962340" "subst" "0.000104496" "01804" "SIN3B_000018" "g.16962340G>A" "" "" "" "SIN3B(NM_001297595.2):c.844G>A (p.(Ala282Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042748" "0" "30" "19" "16964961" "16964961" "subst" "4.07694E-6" "01804" "SIN3B_000019" "g.16964961G>T" "" "" "" "SIN3B(NM_001297595.2):c.947G>T (p.(Arg316Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042749" "0" "30" "19" "16965056" "16965056" "subst" "4.09568E-5" "01804" "SIN3B_000020" "g.16965056G>A" "" "" "" "SIN3B(NM_001297595.2):c.1042G>A (p.(Val348Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042750" "0" "50" "19" "16986892" "16986892" "subst" "0" "01804" "SIN3B_000021" "g.16986892C>T" "" "" "" "SIN3B(NM_001297595.2):c.2619C>T (p.(Val873=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042751" "0" "30" "19" "16987019" "16987021" "delins" "0" "01804" "SIN3B_000022" "g.16987019_16987021delinsTCT" "" "" "" "SIN3B(NM_001297595.2):c.2746_2748delinsTCT (p.(Ala916Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042752" "0" "50" "19" "16987351" "16987351" "subst" "4.0701E-6" "01804" "SIN3B_000023" "g.16987351A>G" "" "" "" "SIN3B(NM_001297595.2):c.2821A>G (p.(Thr941Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042753" "0" "50" "19" "16989007" "16989007" "subst" "0" "01804" "SIN3B_000024" "g.16989007T>A" "" "" "" "SIN3B(NM_001297595.2):c.2968T>A (p.(Phe990Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042754" "0" "30" "19" "16989014" "16989014" "subst" "0" "01804" "SIN3B_000025" "g.16989014G>A" "" "" "" "SIN3B(NM_001297595.2):c.2975G>A (p.(Arg992His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042755" "0" "50" "19" "16989380" "16989380" "subst" "0" "01804" "SIN3B_000026" "g.16989380G>A" "" "" "" "SIN3B(NM_001297595.2):c.3235G>A (p.(Val1079Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056552" "0" "30" "19" "16943025" "16943025" "del" "0" "01804" "SIN3B_000027" "g.16943025del" "" "" "" "SIN3B(NM_001297595.2):c.381+567del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056553" "0" "30" "19" "16952782" "16952782" "subst" "0.000323267" "01804" "SIN3B_000028" "g.16952782A>G" "" "" "" "SIN3B(NM_001297595.2):c.582+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056554" "0" "50" "19" "16980691" "16980691" "subst" "0" "01804" "SIN3B_000029" "g.16980691T>G" "" "" "" "SIN3B(NM_001297595.2):c.2227T>G (p.(Phe743Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056555" "0" "50" "19" "16980837" "16980839" "del" "0" "01804" "SIN3B_000030" "g.16980837_16980839del" "" "" "" "SIN3B(NM_001297595.2):c.2373_2375del (p.(Arg792del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067143" "0" "50" "19" "16952579" "16952581" "del" "0" "02325" "SIN3B_000031" "g.16952579_16952581del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067144" "0" "50" "19" "16962328" "16962328" "subst" "1.70162E-5" "01804" "SIN3B_000032" "g.16962328G>A" "" "" "" "SIN3B(NM_001297595.2):c.832G>A (p.(Val278Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067145" "0" "50" "19" "16989191" "16989191" "subst" "1.69089E-5" "02325" "SIN3B_000033" "g.16989191G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067146" "0" "50" "19" "16989363" "16989363" "subst" "0" "02325" "SIN3B_000017" "g.16989363G>A" "" "" "" "SIN3B(NM_015260.2):c.3314G>A (p.(Arg1105His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001071397" "0" "70" "19" "16952577" "16952577" "subst" "0" "00006" "SIN3B_000034" "g.16952577A>G" "" "{PMID:Seese 2026:41339071}" "" "" "ACMG PVS1, PS2, PM2" "De novo" "" "" "0" "" "" "g.16841766A>G" "" "likely pathogenic (dominant)" "ACMG" ## 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 SIN3B ## Count = 42 "{{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}}" "0000408779" "00018933" "70" "31" "0" "31" "0" "c.31del" "r.(?)" "p.(Ser11Alafs*11)" "1" "0000784045" "00018933" "90" "" "0" "" "0" "c.-23_*1626{0}" "r.0" "p.0" "" "0000784046" "00018933" "90" "" "0" "" "0" "c.-23_*1626{0}" "r.0" "p.0" "" "0000784047" "00018933" "90" "" "0" "" "0" "c.-23_*1626{0}" "r.0" "p.0" "" "0000784048" "00018933" "90" "" "0" "" "0" "c.-23_*1626{0}" "r.0" "p.0" "" "0000784049" "00018933" "90" "" "0" "" "0" "c.-23_*1626{0}" "r.0" "p.0" "" "0000784050" "00018933" "90" "31" "0" "31" "0" "c.31del" "r.(?)" "p.(Ser11AlafsTer11)" "" "0000784051" "00018933" "90" "1579" "0" "1579" "0" "c.1579del" "r.(?)" "p.(Arg527GlyfsTer12)" "" "0000784052" "00018933" "90" "249" "0" "249" "0" "c.249C>G" "r.(?)" "p.(Ile83Met)" "" "0000784053" "00018933" "90" "58" "0" "58" "0" "c.58G>A" "r.(?)" "p.(Gly20Arg)" "" "0000784054" "00018933" "90" "" "0" "" "0" "c.-23_*1626{0}" "r.0" "p.0" "" "0000784055" "00018933" "90" "" "0" "" "0" "c.-23_*1626{0}" "r.0" "p.0" "" "0000894848" "00018933" "50" "1" "0" "1" "0" "c.1A>C" "r.(?)" "p.(Met1?)" "" "0000915157" "00018933" "50" "140" "0" "140" "0" "c.140A>G" "r.(?)" "p.(Tyr47Cys)" "" "0000915158" "00018933" "50" "225" "0" "225" "0" "c.225G>T" "r.(?)" "p.(Gln75His)" "" "0000951242" "00018933" "50" "2848" "0" "2848" "0" "c.2848G>A" "r.(?)" "p.(Glu950Lys)" "" "0000969609" "00018933" "30" "1476" "0" "1476" "0" "c.1476C>T" "r.(?)" "p.(=)" "" "0000983287" "00018933" "50" "389" "0" "389" "0" "c.389C>T" "r.(?)" "p.(Ser130Leu)" "" "0000983288" "00018933" "30" "1719" "-5" "1719" "-5" "c.1719-5C>T" "r.spl?" "p.?" "" "0000983289" "00018933" "30" "2842" "0" "2842" "0" "c.2842G>T" "r.(?)" "p.(Ala948Ser)" "" "0001004491" "00018933" "30" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Glu250Lys)" "" "0001004492" "00018933" "30" "2764" "0" "2764" "0" "c.2764G>A" "r.(?)" "p.(Ala922Thr)" "" "0001004493" "00018933" "50" "3070" "0" "3070" "0" "c.3070C>T" "r.(?)" "p.(Arg1024Cys)" "" "0001004494" "00018933" "30" "3314" "0" "3314" "0" "c.3314G>A" "r.(?)" "p.(Arg1105His)" "" "0001042747" "00018933" "30" "844" "0" "844" "0" "c.844G>A" "r.(?)" "p.(Ala282Thr)" "" "0001042748" "00018933" "30" "947" "0" "947" "0" "c.947G>T" "r.(?)" "p.(Arg316Leu)" "" "0001042749" "00018933" "30" "1042" "0" "1042" "0" "c.1042G>A" "r.(?)" "p.(Val348Ile)" "" "0001042750" "00018933" "50" "2715" "0" "2715" "0" "c.2715C>T" "r.(?)" "p.(=)" "" "0001042751" "00018933" "30" "2842" "0" "2844" "0" "c.2842_2844delinsTCT" "r.(?)" "p.(Ala948Ser)" "" "0001042752" "00018933" "50" "2917" "0" "2917" "0" "c.2917A>G" "r.(?)" "p.(Thr973Ala)" "" "0001042753" "00018933" "50" "3064" "0" "3064" "0" "c.3064T>A" "r.(?)" "p.(Phe1022Ile)" "" "0001042754" "00018933" "30" "3071" "0" "3071" "0" "c.3071G>A" "r.(?)" "p.(Arg1024His)" "" "0001042755" "00018933" "50" "3331" "0" "3331" "0" "c.3331G>A" "r.(?)" "p.(Val1111Met)" "" "0001056552" "00018933" "30" "381" "567" "381" "567" "c.381+567del" "r.(=)" "p.(=)" "" "0001056553" "00018933" "30" "582" "3" "582" "3" "c.582+3A>G" "r.spl?" "p.?" "" "0001056554" "00018933" "50" "2323" "0" "2323" "0" "c.2323T>G" "r.(?)" "p.(Phe775Val)" "" "0001056555" "00018933" "50" "2469" "0" "2471" "0" "c.2469_2471del" "r.(?)" "p.(Arg824del)" "" "0001067143" "00018933" "50" "382" "0" "384" "0" "c.382_384del" "r.(?)" "p.(Glu128del)" "" "0001067144" "00018933" "50" "832" "0" "832" "0" "c.832G>A" "r.(?)" "p.(Val278Met)" "" "0001067145" "00018933" "50" "3248" "0" "3248" "0" "c.3248G>A" "r.(?)" "p.(Arg1083Gln)" "" "0001067146" "00018933" "50" "3314" "0" "3314" "0" "c.3314G>A" "r.(?)" "p.(Arg1105His)" "" "0001071397" "00018933" "70" "382" "-2" "382" "-2" "c.382-2A>G" "r.spl" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000184655" "0000408779" "0000373790" "0000784045" "0000373791" "0000784046" "0000373792" "0000784047" "0000373793" "0000784048" "0000373794" "0000784049" "0000373795" "0000784050" "0000373796" "0000784051" "0000373797" "0000784052" "0000373798" "0000784053" "0000373799" "0000784054" "0000373800" "0000784055" "0000476542" "0001071397"