### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = H3F3B) # 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}}" "H3F3B" "H3 histone, family 3B (H3.3B)" "17" "q25.1" "unknown" "NC_000017.10" "UD_136018479022" "" "https://www.LOVD.nl/H3F3B" "" "1" "4765" "3021" "601058" "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/H3F3B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-12-24 13:26:51" "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}}" "00009122" "H3F3B" "H3 histone, family 3B (H3.3B)" "001" "NM_005324.3" "" "NP_005315.1" "" "" "" "-133" "2572" "411" "73775860" "73772515" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07054" "BRYLIB2" "Bryant-Li-Bhoj neurodevelopmental syndrome, type 2" "AD" "619721" "" "" "" "00006" "2023-12-24 13:23:53" "" "" "07055" "BRYLIB" "Bryant-Li-Bhoj neurodevelopmental syndrome" "" "" "" "" "" "00006" "2023-12-24 13:24:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "H3F3B" "07054" "H3F3B" "07055" ## Individuals ## Do not remove or alter this header ## ## Count = 21 "{{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}}" "00434847" "" "" "" "1" "" "00006" "{PMID:Gostain 2020:32960281}" "" "M" "" "Canada" "" "0" "" "" "" "CMC09" "00449770" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00465910" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat34" "00465911" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat35" "00465912" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat36" "00465913" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat37" "00465914" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat38" "00465915" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat39" "00465916" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat40" "00465917" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat41" "00465918" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat42" "00465919" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat43" "00465920" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat44" "00465921" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat45" "00465922" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat46" "00465928" "" "" "" "1" "" "00006" "{PMID:Okur 2021:34876591}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat5" "00465929" "" "" "" "1" "" "00006" "{PMID:Okur 2021:34876591}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat6" "00465930" "" "" "" "1" "" "00006" "{PMID:Okur 2021:34876591}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat7" "00465931" "" "" "" "1" "" "00006" "{PMID:Okur 2021:34876591}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat8" "00465932" "" "" "" "1" "" "00006" "{PMID:Okur 2021:34876591}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat9" "00465933" "" "" "" "1" "" "00006" "{PMID:Okur 2021:34876591}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat10" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 21 "{{individualid}}" "{{diseaseid}}" "00434847" "00198" "00449770" "00139" "00465910" "05611" "00465911" "05611" "00465912" "05611" "00465913" "05611" "00465914" "05611" "00465915" "05611" "00465916" "05611" "00465917" "05611" "00465918" "05611" "00465919" "05611" "00465920" "05611" "00465921" "05611" "00465922" "05611" "00465928" "05611" "00465929" "05611" "00465930" "05611" "00465931" "05611" "00465932" "05611" "00465933" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05611, 07054, 07055 ## Count = 8 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000325086" "00198" "00434847" "00006" "Isolated (sporadic)" "" "global developmental delay or intellectual disability, seizures, cerebral atrophy" "" "" "" "" "" "" "" "" "" "" "" "0000338915" "00139" "00449770" "03544" "Isolated (sporadic)" "" "HP:0001511, HP:0002079, HP:0008058, HP:0000260, HP:0011304, HP:0000365, HP:0001508, HP:0000028, HP:0001998" "" "" "" "" "" "" "" "" "BRYLIB2" "neurodevelopmental delay" "" "0000351328" "05611" "00465928" "00006" "Isolated (sporadic)" "14y" "see paper; ..., small for gestational age; short stature, failure to thrive; global developmental delay, intellectual disability, no speech; microcephaly, hypotonia, possible craniosynostosis; MRI brain leukoencephalopathy; plagiocephaly, heavy eyebrows, deep set eyes, long eyelashes, down-slanting palpebral fissures, thin upper lips, hypodontia hypertrichosis trunk, sparse hair scalp, camptodactyly 4th/5th finger; retinal degeneration, dysplastic optic nerve; scoliosis" "" "" "" "" "" "" "" "" "BRYLIB2" "neurodegenerative delay" "" "0000351329" "05611" "00465929" "00006" "Isolated (sporadic)" "33y" "see paper; ..., prenatal induced for postterm pregnancy; birth hypotonia, apneic episodes, difficulty feeding; short stature, hypothyroidism, diabetes mellitus type 1; global developmental delay, motor delay, speech delay, intellectual disability; generalized seizures; MRI brain normal; flat facial profile, triangular shaped face, depressed nasal bridge, thin upper lip, relative mandibular prognathism, mild clubbing fingers; strabismus; thoracolumbar scoliosis" "" "" "" "" "" "" "" "" "BRYLIB2" "neurodegenerative delay" "" "0000351330" "05611" "00465930" "00006" "Isolated (sporadic)" "4y" "see paper; ..., decreased fetal movements; birth axial hypotonia, weak cry, difficulty feeding; normal growth; global developmental delay; hypotonia; MRI brain normal; dolichocephaly, bitemporal narrowing, sparse hair bitemporal areas, mild smooth philtrum, incomplete single palmar crease, tapered fingers; nystagmus; constipation; no cardiac anomalies; bilateral sensorineural hearing loss, laryngomalacia" "" "" "" "" "" "" "" "" "BRYLIB2" "neurodegenerative delay" "" "0000351331" "05611" "00465931" "00006" "Isolated (sporadic)" "12y" "see paper; ..., prenatal small for gestational age; small for gestational age; advanced bone age, precocious puberty, 11y-growth plateau; global developmental delay, motor delay, speech delay, intellectual disability; abnormal gait; MRI brain cortical dysplasia, cerebellar hypoplasia, hypoplasia corpus callosum; low anterior hairline, narrow forehead, large ears, down-slanting palpebral fissures, bulbous tubular nose, smooth philtrum, persistence primary teeth, widely spaced teeth, pointed chin, bilateral 5th finger clinodactyly/brachydactyly, bilaterally digitalized thumbs, short middle phalanges fingers, broad big toes, pes planus; severe myopia (-18 to -20 diopter); joint contractures; constipation; no cardiac anomalies; normal hearing" "" "" "" "" "" "" "" "" "BRYLIB2" "neurodegenerative delay" "" "0000351332" "05611" "00465932" "00006" "Isolated (sporadic)" "5y" "see paper; ..., small for gestational age; global developmental delay, speech delay, developmental regression, autism; microcephaly, hypotonia, ataxia, seizures; MRI brain normal; astigmatism blindness left eye; hypermobility; dysphagia, vomiting, congenial malformation small bowel; recurrent otitis media, velvety/hyperextensible skin, patchy hair, soft hair" "" "" "" "" "" "" "" "" "BRYLIB2" "neurodegenerative delay" "" "0000351333" "05611" "00465933" "00006" "Isolated (sporadic)" "8y" "see paper; ..., intrauterine growth retardation; birth possible seizure activity, immature thermoregulation; short stature, advanced bone age, congenital hypothyroidism; global developmental delay, motor delay, speech delay, happy demeanor, stereotypic flying of arms; microcephaly, hypotonia, abnormal gait; prominent forehead, posteriorly rotated ears, prominent eyebrows, hemangioma over glabella, blue sclerae, down-slanting palpebral fissures, upturned nose, midface hypoplasia, thin upper lip, small mouth, micrognathia, high arched palate; esotropia; scoliosis, hypermobility; bicuspid aortic valve, partial fusion aortic leaflets; shallow dental roots" "" "" "" "" "" "" "" "" "BRYLIB2" "neurodegenerative delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 21 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000436319" "00434847" "1" "00006" "00006" "2023-04-07 18:27:15" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451365" "00449770" "1" "03544" "03544" "2024-05-15 06:24:24" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000467562" "00465910" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467563" "00465911" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467564" "00465912" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467565" "00465913" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467566" "00465914" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467567" "00465915" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467568" "00465916" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467569" "00465917" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467570" "00465918" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467571" "00465919" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467572" "00465920" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467573" "00465921" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467574" "00465922" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467580" "00465928" "1" "00006" "00006" "2025-06-19 10:58:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467581" "00465929" "1" "00006" "00006" "2025-06-19 10:58:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467582" "00465930" "1" "00006" "00006" "2025-06-19 10:58:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467583" "00465931" "1" "00006" "00006" "2025-06-19 10:58:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467584" "00465932" "1" "00006" "00006" "2025-06-19 10:58:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467585" "00465933" "1" "00006" "00006" "2025-06-19 10:58:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 29 "{{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}}" "0000922681" "0" "90" "17" "73774722" "73774722" "subst" "0" "00006" "H3F3B_000001" "g.73774722G>C" "" "{PMID:Gostain 2020:32960281}" "" "" "" "De novo" "" "" "0" "" "" "g.75778641G>C" "" "pathogenic (dominant)" "" "0000982802" "0" "50" "17" "73774698" "73774698" "subst" "0" "02325" "H3F3B_000002" "g.73774698C>T" "" "" "" "H3-3B(NM_005324.5):c.389G>A (p.R130Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982803" "0" "90" "17" "73774722" "73774722" "subst" "0" "01804" "H3F3B_000003" "g.73774722G>A" "" "" "" "H3F3B(NM_005324.5):c.365C>T (p.(Pro122Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000982804" "0" "50" "17" "73775265" "73775265" "subst" "0" "01804" "H3F3B_000004" "g.73775265C>T" "" "" "" "H3F3B(NM_005324.5):c.-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985228" "0" "70" "17" "73775245" "73775245" "subst" "0" "03544" "H3F3B_000005" "g.73775245G>A" "" "" "" "" "" "De novo" "-" "" "" "" "" "g.75779164G>A" "{CV:3374710}" "likely pathogenic" "ACMG" "0001015614" "0" "70" "17" "73775210" "73775210" "subst" "0" "02327" "H3F3B_000006" "g.73775210C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001042179" "0" "50" "17" "73775265" "73775265" "subst" "0" "02325" "H3F3B_000007" "g.73775265C>A" "" "" "" "H3-3B(NM_005324.5):c.-10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042180" "0" "30" "17" "73775274" "73775274" "subst" "8.7122E-5" "01804" "H3F3B_000008" "g.73775274G>A" "" "" "" "H3F3B(NM_005324.5):c.-10-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045408" "0" "90" "17" "73775231" "73775231" "subst" "0" "00006" "H3F3B_000023" "g.73775231G>A" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.75779150G>A" "" "pathogenic (dominant)" "" "0001045409" "0" "90" "17" "73775225" "73775225" "subst" "0" "00006" "H3F3B_000021" "g.73775225A>G" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.75779144A>G" "" "pathogenic (dominant)" "" "0001045410" "0" "90" "17" "73775216" "73775216" "subst" "0" "00006" "H3F3B_000020" "g.73775216C>T" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.75779135C>T" "" "pathogenic (dominant)" "" "0001045411" "0" "90" "17" "73775168" "73775168" "subst" "0" "00006" "H3F3B_000018" "g.73775168C>G" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.75779087C>G" "" "pathogenic (dominant)" "" "0001045412" "0" "90" "17" "73775152" "73775152" "subst" "0" "00006" "H3F3B_000017" "g.73775152C>A" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.75779071C>A" "" "pathogenic (dominant)" "" "0001045413" "0" "90" "17" "73775137" "73775137" "subst" "0" "00006" "H3F3B_000016" "g.73775137T>C" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.75779056T>C" "" "pathogenic (dominant)" "" "0001045414" "0" "90" "17" "73775027" "73775027" "subst" "0" "00006" "H3F3B_000015" "g.73775027A>C" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.75778946A>C" "" "pathogenic (dominant)" "" "0001045415" "0" "90" "17" "73774761" "73774761" "subst" "0" "00006" "H3F3B_000013" "g.73774761T>C" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.75778680T>C" "" "pathogenic (dominant)" "" "0001045416" "0" "90" "17" "73774726" "73774726" "subst" "0" "00006" "H3F3B_000012" "g.73774726T>C" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.75778645T>C" "" "pathogenic (dominant)" "" "0001045417" "0" "90" "17" "73774722" "73774722" "subst" "0" "00006" "H3F3B_000001" "g.73774722G>C" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.75778641G>C" "" "pathogenic (dominant)" "" "0001045418" "0" "90" "17" "73774722" "73774722" "subst" "0" "00006" "H3F3B_000001" "g.73774722G>C" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.75778641G>C" "" "pathogenic (dominant)" "" "0001045419" "0" "90" "17" "73774710" "73774710" "subst" "0" "00006" "H3F3B_000011" "g.73774710T>C" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.75778629T>C" "" "pathogenic (dominant)" "" "0001045420" "0" "70" "17" "73774733" "73774733" "subst" "0" "00006" "H3F3B_000009" "g.73774733G>T" "" "{PMID:Bryant 2020:33268356}" "" "440C>A (S146X), V117V" "" "De novo" "" "" "0" "" "" "g.75778652G>T" "" "likely pathogenic (dominant)" "" "0001045428" "0" "90" "17" "73775233" "73775233" "subst" "0" "00006" "H3F3B_000024" "g.73775233G>A" "" "{PMID:Okur 2021:34876591}" "" "" "" "De novo" "" "" "0" "" "" "g.75779152G>A" "" "pathogenic (dominant)" "" "0001045429" "0" "90" "17" "73775231" "73775231" "subst" "0" "00006" "H3F3B_000023" "g.73775231G>A" "" "{PMID:Okur 2021:34876591}" "" "" "" "De novo" "" "" "0" "" "" "g.75779150G>A" "" "pathogenic (dominant)" "" "0001045430" "0" "90" "17" "73775228" "73775228" "subst" "0" "00006" "H3F3B_000022" "g.73775228T>C" "" "{PMID:Okur 2021:34876591}" "" "" "" "De novo" "" "" "0" "" "" "g.75779147T>C" "" "pathogenic (dominant)" "" "0001045431" "0" "90" "17" "73775188" "73775188" "subst" "0" "00006" "H3F3B_000019" "g.73775188G>T" "" "{PMID:Okur 2021:34876591}" "" "" "" "De novo" "" "" "0" "" "" "g.75779107G>T" "" "pathogenic (dominant)" "" "0001045432" "0" "90" "17" "73775018" "73775018" "subst" "0" "00006" "H3F3B_000014" "g.73775018A>T" "" "{PMID:Okur 2021:34876591}" "" "" "" "De novo" "" "" "0" "" "" "g.75778937A>T" "" "pathogenic (dominant)" "" "0001045433" "0" "90" "17" "73774676" "73774677" "del" "0" "00006" "H3F3B_000010" "g.73774676_73774677del" "" "{PMID:Okur 2021:34876591}" "" "" "" "De novo" "" "" "0" "" "" "g.75778595_75778596del" "" "pathogenic (dominant)" "" "0001056188" "0" "30" "17" "73774813" "73774813" "subst" "0.000487302" "01804" "H3F3B_000025" "g.73774813G>A" "" "" "" "H3F3B(NM_005324.5):c.283-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056189" "0" "70" "17" "73775204" "73775204" "subst" "0" "02327" "H3F3B_000026" "g.73775204G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 H3F3B ## Count = 29 "{{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}}" "0000922681" "00009122" "90" "365" "0" "365" "0" "c.365C>G" "r.(?)" "p.(Pro122Arg)" "" "0000982802" "00009122" "50" "389" "0" "389" "0" "c.389G>A" "r.(?)" "p.(Arg130Gln)" "" "0000982803" "00009122" "90" "365" "0" "365" "0" "c.365C>T" "r.(?)" "p.(Pro122Leu)" "" "0000982804" "00009122" "50" "-10" "0" "-10" "0" "c.-10G>A" "r.(?)" "p.(=)" "" "0000985228" "00009122" "70" "11" "0" "11" "0" "c.11C>T" "r.(?)" "p.(Thr4Ile)" "2" "0001015614" "00009122" "70" "46" "0" "46" "0" "c.46G>C" "r.(?)" "p.(Ala16Pro)" "" "0001042179" "00009122" "50" "-10" "0" "-10" "0" "c.-10G>T" "r.(?)" "p.(=)" "" "0001042180" "00009122" "30" "-10" "-9" "-10" "-9" "c.-10-9C>T" "r.(=)" "p.(=)" "" "0001045408" "00009122" "90" "25" "0" "25" "0" "c.25C>T" "r.(?)" "p.(Arg9Cys)" "" "0001045409" "00009122" "90" "31" "0" "31" "0" "c.31T>C" "r.(?)" "p.(Ser11Pro)" "" "0001045410" "00009122" "90" "40" "0" "40" "0" "c.40G>A" "r.(?)" "p.(Gly14Arg)" "" "0001045411" "00009122" "90" "88" "0" "88" "0" "c.88G>C" "r.(?)" "p.(Ala30Pro)" "" "0001045412" "00009122" "90" "104" "0" "104" "0" "c.104G>T" "r.(?)" "p.(Gly35Val)" "" "0001045413" "00009122" "90" "119" "0" "119" "0" "c.119A>G" "r.(?)" "p.(His40Arg)" "" "0001045414" "00009122" "90" "146" "0" "146" "0" "c.146T>G" "r.(?)" "p.(Leu49Arg)" "" "0001045415" "00009122" "90" "326" "0" "326" "0" "c.326A>G" "r.(?)" "p.(Asn109Ser)" "" "0001045416" "00009122" "90" "361" "0" "361" "0" "c.361A>G" "r.(?)" "p.(Met121Val)" "" "0001045417" "00009122" "90" "365" "0" "365" "0" "c.365C>G" "r.(?)" "p.(Pro122Arg)" "" "0001045418" "00009122" "90" "365" "0" "365" "0" "c.365C>G" "r.(?)" "p.(Pro122Arg)" "" "0001045419" "00009122" "90" "377" "0" "377" "0" "c.377A>G" "r.(?)" "p.(Gln126Arg)" "" "0001045420" "00009122" "70" "354" "0" "354" "0" "c.354C>A" "r.spl?" "p.(Val118=)" "" "0001045428" "00009122" "90" "23" "0" "23" "0" "c.23C>T" "r.(?)" "p.(Ala8Val)" "" "0001045429" "00009122" "90" "25" "0" "25" "0" "c.25C>T" "r.(?)" "p.(Arg9Cys)" "" "0001045430" "00009122" "90" "28" "0" "28" "0" "c.28A>G" "r.(?)" "p.(Lys10Glu)" "" "0001045431" "00009122" "90" "68" "0" "68" "0" "c.68C>A" "r.(?)" "p.(Thr23Lys)" "" "0001045432" "00009122" "90" "155" "0" "155" "0" "c.155T>A" "r.(?)" "p.(Ile52Asn)" "" "0001045433" "00009122" "90" "410" "0" "411" "0" "c.410_411del" "r.(?)" "p.(Ter137CysextTer9)" "" "0001056188" "00009122" "30" "283" "-9" "283" "-9" "c.283-9C>T" "r.(=)" "p.(=)" "" "0001056189" "00009122" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000436319" "0000922681" "0000451365" "0000985228" "0000467562" "0001045408" "0000467563" "0001045409" "0000467564" "0001045410" "0000467565" "0001045411" "0000467566" "0001045412" "0000467567" "0001045413" "0000467568" "0001045414" "0000467569" "0001045415" "0000467570" "0001045416" "0000467571" "0001045417" "0000467572" "0001045418" "0000467573" "0001045419" "0000467574" "0001045420" "0000467580" "0001045428" "0000467581" "0001045429" "0000467582" "0001045430" "0000467583" "0001045431" "0000467584" "0001045432" "0000467585" "0001045433"