### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KDM3B) # 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}}" "KDM3B" "lysine demethylase 3B" "5" "q31.2" "unknown" "NC_000005.9" "UD_145627735737" "" "https://www.LOVD.nl/KDM3B" "" "1" "1337" "51780" "609373" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00000" "2017-08-08 00:00:00" "00006" "2026-01-05 17:31:35" "00006" "2026-01-05 20:42:42" ## 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}}" "00024646" "KDM3B" "lysine (K)-specific demethylase 3B" "001" "NM_016604.3" "" "NP_057688.2" "" "" "" "-200" "6613" "5286" "137688285" "137772716" "00000" "2017-08-08 13:19:53" "" "" ## 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}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "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" "06688" "DIJOS" "Diets-Jongmans syndrome" "AD" "618846" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "KDM3B" "00139" "KDM3B" "06688" ## Individuals ## Do not remove or alter this header ## ## Count = 22 "{{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}}" "00050575" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00311925" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00433675" "" "" "" "1" "" "03544" "" "" "" "" "" "" "" "" "" "" "" "00434804" "" "" "" "2" "" "00006" "{PMID:Gofin 2022:35796094}" "2-generation family, affected father/daughter" "F;M" "" "United States" "" "0" "" "" "" "Pat1" "00436138" "" "" "" "1" "" "00006" "{PMID:Schonauer 2023:37207645}, {DOI:Schonauer 2023:10.1016/j.ajhg.2023.04.010}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat7" "00472019" "" "" "" "1" "" "00006" "{PMID:Diets 2019:30929739}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat1" "00472020" "" "" "" "2" "" "00006" "{PMID:Diets 2019:30929739}" "2-generation family, affected daughter/mother" "F" "" "" "" "0" "" "" "" "Pat2" "00472021" "" "" "00472020" "1" "" "00006" "{PMID:Diets 2019:30929739}" "mother" "F" "" "" "" "0" "" "" "" "Pat3" "00472022" "" "" "" "1" "" "00006" "{PMID:Diets 2019:30929739}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat4" "00472023" "" "" "" "2" "" "00006" "{PMID:Diets 2019:30929739}" "2-generation family, affected son/mother" "M" "" "" "" "0" "" "" "" "Pat5" "00472024" "" "" "00472023" "1" "" "00006" "{PMID:Diets 2019:30929739}" "mother" "F" "" "" "" "0" "" "" "" "Pat6" "00472025" "" "" "" "1" "" "00006" "{PMID:Diets 2019:30929739}" "2-generation family, 1 affected, unaffected non-carrier mother" "F" "" "" "" "0" "" "" "" "Pat7" "00472026" "" "" "" "1" "" "00006" "{PMID:Diets 2019:30929739}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat8" "00472027" "" "" "" "1" "" "00006" "{PMID:Diets 2019:30929739}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat9" "00472028" "" "" "" "1" "" "00006" "{PMID:Diets 2019:30929739}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat10" "00472029" "" "" "" "1" "" "00006" "{PMID:Diets 2019:30929739}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat11" "00472030" "" "" "" "1" "" "00006" "{PMID:Diets 2019:30929739}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat12" "00472031" "" "" "" "1" "" "00006" "{PMID:Diets 2019:30929739}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat13" "00472032" "" "" "" "1" "" "00006" "{PMID:Diets 2019:30929739}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat14" "00472033" "" "" "" "2" "" "00006" "{PMID:Diets 2019:30929739}" "2-generation family, affected son/father" "M" "" "" "" "0" "" "" "" "Pat15" "00472034" "" "" "00472033" "1" "" "00006" "{PMID:Diets 2019:30929739}" "father" "M" "" "" "" "0" "" "" "" "Pat16" "00472035" "" "" "" "1" "" "00006" "{PMID:Diets 2019:30929739}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat17" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00050575" "00198" "00311925" "00198" "00433675" "00138" "00434804" "00198" "00436138" "05611" "00472019" "00139" "00472020" "00139" "00472021" "00139" "00472022" "00139" "00472023" "00139" "00472024" "00139" "00472025" "00139" "00472026" "00139" "00472027" "00139" "00472028" "00139" "00472029" "00139" "00472030" "00139" "00472031" "00139" "00472032" "00139" "00472033" "00139" "00472034" "00139" "00472035" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00139, 00198, 05611, 06688 ## Count = 20 "{{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}}" "0000037187" "00198" "00050575" "00006" "Isolated (sporadic)" "" "intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "0000324098" "00138" "00433675" "03544" "Isolated (sporadic)" "" "intellectual disability, autism, hypotonia, gait abnormality" "" "" "" "" "" "" "" "" "" "autism" "" "0000326322" "05611" "00436138" "00006" "Isolated (sporadic)" "16y" "onset infancy; neurodevelopmental delay; obesity; no hyperphagia; no diabetes; brain MRI normal; no uro-renal anomalies; no neonatal hypotonia; feeding difficulties infancy; moderate speech delay; severe motor delay; severe learning disabilities; no school (special education); moderate intellectual disability; epilepsy" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000356828" "00139" "00472019" "00006" "Isolated (sporadic)" "6y" "see paper; ..., uncomplicated pregnancy; birth weight 3700g; mild intellectual disability; motor delay; 2y6m-walk; language delay, 2y-first words; height -1.7SD, OFC -0.75SD; normal behavior; no epilepsy; hypotonia (childhood); MRI brain normal; neonatal feeding difficulties, swallowing problems; no eye abnormalities; no hearing loss; joint hypermobility; no scoliosis; pes planus, long fingers, clinodactyly 5th toe; migraine; chronic bladder infections; inverted nipples; long ears; upslanted palpebral fissures; no downslanted palpebral fissures; no ptosis; broad nasal tip; low hanging columella; thin upper lip vermillion; wide mouth; pointed chin; retrognathia, squared ears with notch" "" "" "" "" "" "" "" "" "DIJOS" "intelleellectual disabilityctual disability" "" "0000356829" "00139" "00472020" "00006" "Familial, autosomal dominant" "16y" "see paper; ..., pregnancy breech presentation; developmental delay, learning problems; motor delay; language delay; height -2.5SD, OFC -0.2SD; normal behavior; no epilepsy; MRI brain normal; congenital hip dysplasia; no neonatal feeding difficulties; no eye abnormalities; no hearing loss; joint hypermobility; no scoliosis; short broad distal phalanges thumb, short 5th fingers; 14y-acute myeloid leukemia; congenital hypothyroidism; long ears; no upslanted palpebral fissures; no downslanted palpebral fissures; no ptosis; broad nasal tip; low hanging columella; thin upper lip vermillion; wide mouth; pointed chin; prominent eyes, small alae nasi" "" "" "" "" "" "" "" "" "DIJOS" "intelleellectual disabilityctual disability" "" "0000356830" "00139" "00472021" "00006" "Unknown" ">18y" "see paper; ..., mild intellectual disability; language delay; no epilepsy; bilateral hearing loss; narrow pelvic floor; one miscarriage; narrow pelvic floor; one miscarriage" "" "" "" "" "" "" "" "" "DIJOS" "intelleellectual disabilityctual disability" "" "0000356831" "00139" "00472022" "00006" "Isolated (sporadic)" "13y" "see paper; ..., pregnancy breech presentation; birth weight 3010g; mild intellectual disability; motor delay; 19m-walk; language delay, speech therapy; height 0SD, OFC +0.3SD; attention deficit hyperactivity disorder; no epilepsy; MRI brain normal; no neonatal feeding difficulties; hyperopia; no hearing loss; no joint hypermobility; no scoliosis; small 5th fingers, sandal gap; hypodontia; premature pubarche; sleeping difficulties; no long ears; no upslanted palpebral fissures; downslanted palpebral fissures; no ptosis; broad nasal tip; low hanging columella; thin upper lip vermillion; wide mouth; pointed chin; broad nasal bridge, high palate" "" "" "" "" "" "" "" "" "" "intelleellectual disabilityctual disability" "" "0000356832" "00139" "00472023" "00006" "Familial, autosomal dominant" "7y" "see paper; ..., 28wg-premature contractions; birth weight 2340g; developmental delay, learning problems; no motor delay; language delay, dyslexia; height -0.9SD, OFC 0SD; attention deficit hyperactivity disorder, autism spectrum disorder; no epilepsy; no hypotonia (childhood); congenital diaphragmatic hernia, ventricular septal defect, umbilical and inguinal hernia; neonatal feeding difficulties, mainly in context of CHD; no eye abnormalities; no hearing loss; no joint hypermobility; no scoliosis; no hand/feet abnormalities; no long ears; no upslanted palpebral fissures; no downslanted palpebral fissures; ptosis; broad nasal tip; no low hanging columella; no thin upper lip vermillion; wide mouth; pointed chin; high nasal bridge, slight hypertelorism" "" "" "" "" "" "" "" "" "" "intelleellectual disabilityctual disability" "" "0000356833" "00139" "00472024" "00006" "Unknown" "42y" "see paper; ..., pregnancy supine position, cerclage (mother had 5 miscarriages); mild intellectual disability, language dyslexia; no motor delay; language delay, speech therapy in childhood; height -0.5SD, OFC +2SD; attention deficit hyperactivity disorder; no epilepsy; no hypotonia (childhood); no eye abnormalities; hearing loss, 20y-hearing apparatus, Menière disease; no joint hypermobility; no scoliosis; no hand/feet abnormalities; no long ears; no upslanted palpebral fissures; mild downslanted palpebral fissures; no ptosis; broad nasal tip; no low hanging columella; thin upper lip vermillion; no wide mouth; pointed chin; high nasal bridge, slight hypertelorism, attached ear lobules" "" "" "" "" "" "" "" "" "" "intelleellectual disabilityctual disability" "" "0000356834" "00139" "00472025" "00006" "Unknown" "9m" "see paper; ..., uncomplicated pregnancy; motor delay; height -1.7SD, OFC -2.5SD; no epilepsy; hypotonia (childhood); MRI brain normal; pulmonary capillary hemangiomatosis; no neonatal feeding difficulties; no eye abnormalities; no hearing loss; no joint hypermobility; no scoliosis; no hand/feet abnormalities; 6m-pulmonary hypertension due to pulmonary capillary hemangiomatosis and severe microangiopathy; no long ears; no upslanted palpebral fissures; no downslanted palpebral fissures; no ptosis; no broad nasal tip; no low hanging columella; no thin upper lip vermillion; no wide mouth; no pointed chin" "" "" "" "" "" "" "" "" "DIJOS" "intelleellectual disabilityctual disability" "" "0000356835" "00139" "00472026" "00006" "Isolated (sporadic)" "4y" "see paper; ..., birth weight 3459g; mild intellectual disability; motor delay; 18m-20m-walk; language delay, speech therapy; height <-2.5SD, OFC ND; normal behavior; no epilepsy; no hypotonia (childhood); MRI brain normal; neonatal feeding difficulties, swallowing problems; no eye abnormalities; bilateral hearing loss; no joint hypermobility; no scoliosis; no hand/feet abnormalities; long ears; no upslanted palpebral fissures; downslanted palpebral fissures; ptosis; broad nasal tip; low hanging columella; thin upper lip vermillion; wide mouth; pointed chin" "" "" "" "" "" "" "" "" "DIJOS" "intelleellectual disabilityctual disability" "" "0000356836" "00139" "00472027" "00006" "Isolated (sporadic)" "2y3m" "see paper; ..., uncomplicated pregnancy; birth weight 3450g; mild intellectual disability; motor delay; 14m-walk; language delay; height -2.5SD, OFC -1.6SD; hyperactivity; no epilepsy; hypotonia (childhood); MRI brain normal; neonatal feeding difficulties; strabism; no hearing loss; no joint hypermobility; no scoliosis; no hand/feet abnormalities; mild CK/lactate elevation; tooth malformations; sleeping disorder; no long ears; upslanted palpebral fissures; no downslanted palpebral fissures; ptosis; broad nasal tip; no low hanging columella; thin upper lip vermillion; wide mouth; pointed chin; depressed nasal bridge, telecanthus" "" "" "" "" "" "" "" "" "DIJOS" "intelleellectual disabilityctual disability" "" "0000356837" "00139" "00472028" "00006" "Isolated (sporadic)" "25y" "see paper; ..., pregnancy complicated by growth retardation; birth weight low; mild-moderate intellectual disability; motor delay; language delay; height -1.24SD, OFC -1.6SD; normal behavior; no epilepsy; no hypotonia (childhood); neonatal feeding difficulties, slow drinking, tube feeding; low vision, nystagmus; no hearing loss; no joint hypermobility; no scoliosis; sandal gap, pes planus; long ears; no upslanted palpebral fissures; no downslanted palpebral fissures; no ptosis; broad nasal tip; no low hanging columella; thin upper lip vermillion; wide mouth; pointed chin; posteriorly rotated ears" "" "" "" "" "" "" "" "" "DIJOS" "intelleellectual disabilityctual disability" "" "0000356838" "00139" "00472029" "00006" "Isolated (sporadic)" "17y" "see paper; ..., pregnancy breech presentation; birth weight 3145g; mild-moderate intellectual disability; motor delay; language delay; height -2.5SD, OFC -0.5SD; attention deficit hyperactivity disorder, autism spectrum disorder; epilepsy (early childhood); hypotonia (childhood); MRI brain hypoplasia posterior corpus callosum; umbilical hernia, inguinal hernia, neonatal cryptorchidism; neonatal feeding difficulties, frequent vomiting; strabism, vertical limitation right eye; no hearing loss; joint hypermobility; no scoliosis; small feet, sandal gap; 14y-Hodgkin lymphoma; solitary anal ulcer; obesity; long ears; no upslanted palpebral fissures; downslanted palpebral fissures; ptosis; broad nasal tip; low hanging columella; thin upper lip vermillion; wide mouth; pointed chin; squared ears, broad palate" "" "" "" "" "" "" "" "" "DIJOS" "intelleellectual disabilityctual disability" "" "0000356839" "00139" "00472030" "00006" "Isolated (sporadic)" "7y" "see paper; ..., uncomplicated pregnancy; birth weight 4030g; intellectual disability; motor delay; 15m-walk; language delay, 2y-first words; height -0.5SD, OFC +0.8SD; Incidental aggressive behavior; no epilepsy; no hypotonia (childhood); MRI brain small retrocerebellar cyst; no neonatal feeding difficulties; no eye abnormalities; no hearing loss; mild joint hypermobility; no scoliosis; long fingers/toes, clinodactyly 5th finger; sleeping difficulties; hypopigmentation hair; long ears; upslanted palpebral fissures; no downslanted palpebral fissures; no ptosis; broad nasal tip; no low hanging columella; thin upper lip vermillion; wide mouth; no pointed chin; small nasal bridge, squared ears with notch" "" "" "" "" "" "" "" "" "DIJOS" "intelleellectual disabilityctual disability" "" "0000356840" "00139" "00472031" "00006" "Isolated (sporadic)" "5y" "see paper; ..., pregnancy complicated by polyhydramnios, 33wg-premature birth; birth weight 1615g; developmental delay; motor delay; 17m-walk; language delay; height <-2.5SD, OFC ND; normal behavior; no epilepsy; no hypotonia (childhood); MRI brain white matter gliosis; heterotaxy, interrupted inferior vena cava, duodenal atresia, visceral situs ambigous; neonatal feeding difficulties; myopia, astigmatism; no hearing loss; no joint hypermobility; no scoliosis; no hand/feet abnormalities; growth hormone deficiency; vit.D-deficiency; no long ears; no upslanted palpebral fissures; downslanted palpebral fissures; ptosis; broad nasal tip; no low hanging columella; thin upper lip vermillion; wide mouth; pointed chin; frontal bossing" "" "" "" "" "" "" "" "" "DIJOS" "intelleellectual disabilityctual disability" "" "0000356841" "00139" "00472032" "00006" "Isolated (sporadic)" "7y" "see paper; ..., pregnancy complicated by little liquid excess; birth weight 2650g; mild intellectual disability; motor delay; 16m-walk; language delay; height -2.5SD, OFC -0.5SD; autism spectrum disorder; no epilepsy; no hypotonia (childhood); MRI brain thick corpus callosum; hypospadia; neonatal feeding difficulties, slow drinking; no eye abnormalities; no hearing loss; no joint hypermobility; scoliosis; no hand/feet abnormalities; long ears; no upslanted palpebral fissures; no downslanted palpebral fissures; no ptosis; broad nasal tip; low hanging columella; thin upper lip vermillion; wide mouth; pointed chin; posteriorly rotated ears, small palpebral fissures" "" "" "" "" "" "" "" "" "DIJOS" "intelleellectual disabilityctual disability" "" "0000356842" "00139" "00472033" "00006" "Familial, autosomal dominant" "10y" "see paper; ..., IVF/ICSI pregnancy; birth weight 2488g; moderate intellectual disability; motor delay; 21m-walk; language delay; height <-2.5SD, OFC +0.5SD; normal behavior; epilepsy; hypotonia (childhood); MRI brain normal; neonatal feeding difficulties; no eye abnormalities; no hearing loss; no joint hypermobility; scoliosis; small hands/feet; obesity; hemiparesia left; long ears; no upslanted palpebral fissures; no downslanted palpebral fissures; no ptosis; broad nasal tip; no low hanging columella; thin upper lip vermillion; no wide mouth; pointed chin" "" "" "" "" "" "" "" "" "DIJOS" "intelleellectual disabilityctual disability" "" "0000356843" "00139" "00472034" "00006" "Unknown" ">18y" "see paper; ..., birth weight 2940g; mild intellectual disability; motor delay; 18m-walk; language delay; height <-2.5SD, OFC -1.5SD; normal behavior; no eye abnormalities; no hearing loss; no joint hypermobility; no scoliosis; no hand/feet abnormalities; oligospermia; long ears; no upslanted palpebral fissures; no downslanted palpebral fissures; no ptosis; no broad nasal tip; no low hanging columella; no thin upper lip vermillion; no wide mouth; no pointed chin" "" "" "" "" "" "" "" "" "DIJOS" "intelleellectual disabilityctual disability" "" "0000356844" "00139" "00472035" "00006" "Isolated (sporadic)" "16y" "see paper; ..., pregnancy breech presentation; birth weight 2590g; mild-moderate intellectual disability; motor delay; 24m-walk; language delay; height -2SD, OFC -1.2SD; delayed social-emotional development; epilepsy, aroxysmal attacks, 3y-EEG Rolandic spikes; no hypotonia (childhood); MRI brain normal; small congenital diaphragmatic hernia; no neonatal feeding difficulties; no eye abnormalities; hearing loss, unilateral with enlarged vestibular aquaduct syndrome; joint hypermobility; no scoliosis; no hand/feet abnormalities; cyclic vomiting; torticollis; obstipation; leg hypertonia; sleeping problems; disturbed balance; no long ears; mild upslanted palpebral fissures; no downslanted palpebral fissures; no ptosis; broad nasal tip; no low hanging columella; no thin upper lip vermillion; wide mouth; pointed chin" "" "" "" "" "" "" "" "" "DIJOS" "intelleellectual disabilityctual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050520" "00050575" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000313097" "00311925" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000435133" "00433675" "1" "03544" "03544" "2023-03-13 08:14:52" "" "" "SEQ-NG-I" "DNA" "" "" "0000436276" "00434804" "1" "00006" "00006" "2023-04-07 15:01:56" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000437619" "00436138" "1" "00006" "00006" "2023-08-16 11:42:32" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000473689" "00472019" "1" "00006" "00006" "2026-01-05 20:42:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473690" "00472020" "1" "00006" "00006" "2026-01-05 20:42:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473691" "00472021" "1" "00006" "00006" "2026-01-05 20:42:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473692" "00472022" "1" "00006" "00006" "2026-01-05 20:42:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473693" "00472023" "1" "00006" "00006" "2026-01-05 20:42:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473694" "00472024" "1" "00006" "00006" "2026-01-05 20:42:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473695" "00472025" "1" "00006" "00006" "2026-01-05 20:42:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473696" "00472026" "1" "00006" "00006" "2026-01-05 20:42:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473697" "00472027" "1" "00006" "00006" "2026-01-05 20:42:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473698" "00472028" "1" "00006" "00006" "2026-01-05 20:42:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473699" "00472029" "1" "00006" "00006" "2026-01-05 20:42:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473700" "00472030" "1" "00006" "00006" "2026-01-05 20:42:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473701" "00472031" "1" "00006" "00006" "2026-01-05 20:42:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473702" "00472032" "1" "00006" "00006" "2026-01-05 20:42:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473703" "00472033" "1" "00006" "00006" "2026-01-05 20:42:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473704" "00472034" "1" "00006" "00006" "2026-01-05 20:42:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000473705" "00472035" "1" "00006" "00006" "2026-01-05 20:42:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000313097" "KDM3B" ## 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 = 71 "{{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}}" "0000079500" "0" "90" "5" "123828524" "145717285" "dup" "0" "00006" "SIL1_000024" "g.123828524_145717285dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.38 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000330535" "0" "50" "5" "137688497" "137688497" "subst" "0.0251647" "01804" "KDM3B_000001" "g.137688497G>A" "" "" "" "KDM3B(NM_016604.3):c.13G>A (p.(Ala5Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138352808G>A" "" "VUS" "" "0000330536" "0" "50" "5" "137763755" "137763755" "subst" "0" "01804" "KDM3B_000002" "g.137763755G>T" "" "" "" "KDM3B(NM_016604.3):c.4733G>T (p.(Gly1578Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138428066G>T" "" "VUS" "" "0000341668" "0" "70" "5" "137735585" "137735585" "subst" "0" "02327" "KDM3B_000005" "g.137735585G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138399896G>A" "" "likely pathogenic" "" "0000342925" "0" "50" "5" "137688617" "137688617" "subst" "0" "02327" "KDM3B_000003" "g.137688617C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138352928C>T" "" "VUS" "" "0000343867" "0" "50" "5" "137735597" "137735597" "subst" "0" "02327" "KDM3B_000006" "g.137735597A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138399908A>T" "" "VUS" "" "0000349675" "0" "50" "5" "137708519" "137708519" "subst" "0" "02327" "KDM3B_000004" "g.137708519T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138372830T>C" "" "VUS" "" "0000524300" "0" "70" "5" "137750858" "137750858" "subst" "0" "02327" "KDM3B_000007" "g.137750858G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138415169G>A" "" "likely pathogenic" "" "0000524301" "0" "50" "5" "137762901" "137762901" "subst" "0" "02327" "KDM3B_000008" "g.137762901T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138427212T>C" "" "VUS" "" "0000524303" "0" "50" "5" "137776776" "137776776" "subst" "0" "02327" "KDM3B_000009" "g.137776776A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138441087A>G" "" "VUS" "" "0000689436" "0" "70" "5" "137708526" "137708526" "subst" "0" "02327" "KDM3B_000010" "g.137708526C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000694831" "3" "30" "5" "137722019" "137722019" "subst" "2.84285E-5" "00006" "KDM3B_000011" "g.137722019C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in HARS" "Germline" "" "" "0" "" "" "g.138386330C>T" "" "likely benign" "ACMG" "0000720195" "0" "50" "5" "137727707" "137727707" "subst" "0" "02327" "KDM3B_000012" "g.137727707A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720196" "0" "90" "5" "137728913" "137728913" "subst" "0" "02325" "KDM3B_000013" "g.137728913G>T" "" "" "" "KDM3B(NM_016604.4):c.2683G>T (p.G895*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000801906" "0" "50" "5" "137722294" "137722294" "subst" "4.92935E-5" "02325" "KDM3B_000014" "g.137722294C>T" "" "" "" "KDM3B(NM_016604.4):c.1364C>T (p.S455L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801907" "0" "70" "5" "137729046" "137729046" "subst" "0" "02329" "KDM3B_000015" "g.137729046T>C" "" "" "" "KDM3B(NM_016604.4):c.2816T>C (p.F939S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000801908" "0" "70" "5" "137766025" "137766025" "subst" "0" "02327" "KDM3B_000016" "g.137766025C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000912228" "0" "50" "5" "137721841" "137721841" "subst" "4.0622E-6" "02327" "KDM3B_000017" "g.137721841G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912229" "0" "50" "5" "137754892" "137754892" "subst" "0" "02329" "KDM3B_000018" "g.137754892C>T" "" "" "" "KDM3B(NM_016604.4):c.3686C>T (p.A1229V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000921074" "0" "50" "5" "137710791" "137710791" "subst" "0" "03544" "KDM3B_000019" "g.137710791C>A" "" "" "" "" "borderline classification of pathogenicity VUS-LP" "De novo" "-" "" "" "" "" "" "" "VUS" "ACMG" "0000922637" "11" "70" "5" "137727201" "137727201" "subst" "4.09011E-6" "00006" "KDM3B_000020" "g.137727201A>G" "" "{PMID:Gofin 2022:35796094}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000924245" "0" "50" "5" "137754733" "137754733" "subst" "4.06075E-6" "02325" "KDM3B_000021" "g.137754733A>C" "" "" "" "KDM3B(NM_016604.4):c.3527A>C (p.D1176A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924246" "0" "50" "5" "137763713" "137763713" "subst" "0" "02327" "KDM3B_000022" "g.137763713C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000932943" "0" "50" "5" "137767234" "137767234" "subst" "0" "00006" "KDM3B_000023" "g.137767234G>A" "" "{PMID:Schonauer 2023:37207645}, {DOI:Schonauer 2023:10.1016/j.ajhg.2023.04.010}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.138431545G>A" "" "VUS" "" "0000948480" "0" "90" "5" "137727117" "137727118" "del" "0" "02329" "KDM3B_000024" "g.137727117_137727118del" "" "" "" "KDM3B(NM_016604.4):c.1796_1797delCC (p.P599Hfs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000948481" "0" "50" "5" "137753181" "137753181" "subst" "8.12315E-6" "02325" "KDM3B_000025" "g.137753181A>G" "" "" "" "KDM3B(NM_016604.4):c.3317A>G (p.N1106S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963437" "0" "50" "5" "137761247" "137761247" "subst" "0" "02327" "KDM3B_000026" "g.137761247T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976558" "0" "50" "5" "137688553" "137688558" "del" "0" "01804" "FAM53C_000002" "g.137688553_137688558del" "" "" "" "KDM3B(NM_016604.4):c.69_74del (p.(Ser27_Ala28del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976559" "0" "30" "5" "137709456" "137709456" "subst" "0" "01804" "KDM3B_000027" "g.137709456G>C" "" "" "" "KDM3B(NM_016604.4):c.360+926G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976562" "0" "30" "5" "137727340" "137727340" "subst" "0" "01804" "KDM3B_000028" "g.137727340C>G" "" "" "" "KDM3B(NM_016604.4):c.2019C>G (p.(Ser673Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976563" "0" "30" "5" "137753279" "137753279" "subst" "3.65553E-5" "01804" "KDM3B_000029" "g.137753279G>A" "" "" "" "KDM3B(NM_016604.4):c.3415G>A (p.(Val1139Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976565" "0" "50" "5" "137776746" "137776746" "del" "0" "01804" "KDM3B_000030" "g.137776746del" "" "" "" "REEP2(NM_001271803.2):c.74del (p.(Lys25ArgfsTer3))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994669" "0" "30" "5" "137717221" "137717221" "subst" "0" "01804" "KDM3B_000031" "g.137717221C>T" "" "" "" "KDM3B(NM_016604.3):c.722C>T (p.(Ser241Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994670" "0" "30" "5" "137721976" "137721976" "subst" "8.12203E-6" "01804" "KDM3B_000032" "g.137721976A>G" "" "" "" "KDM3B(NM_016604.3):c.1046A>G (p.(Gln349Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994671" "0" "30" "5" "137722114" "137722114" "subst" "4.06359E-6" "01804" "KDM3B_000033" "g.137722114C>A" "" "" "" "KDM3B(NM_016604.3):c.1184C>A (p.(Ala395Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994672" "0" "30" "5" "137727041" "137727041" "subst" "3.65874E-5" "01804" "KDM3B_000034" "g.137727041G>A" "" "" "" "KDM3B(NM_016604.3):c.1720G>A (p.(Val574Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994673" "0" "50" "5" "137727210" "137727210" "subst" "4.09001E-6" "01804" "KDM3B_000035" "g.137727210G>A" "" "" "" "KDM3B(NM_016604.3):c.1889G>A (p.(Arg630Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994674" "0" "50" "5" "137727212" "137727212" "subst" "4.08844E-6" "01804" "KDM3B_000036" "g.137727212G>A" "" "" "" "KDM3B(NM_016604.3):c.1891G>A (p.(Glu631Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994675" "0" "30" "5" "137733881" "137733881" "subst" "8.17107E-6" "01804" "KDM3B_000037" "g.137733881G>A" "" "" "" "KDM3B(NM_016604.3):c.2846G>A (p.(Arg949Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994676" "0" "50" "5" "137753235" "137753235" "subst" "0" "01804" "KDM3B_000038" "g.137753235G>T" "" "" "" "KDM3B(NM_016604.3):c.3371G>T (p.(Cys1124Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994677" "0" "30" "5" "137754819" "137754819" "subst" "0" "01804" "KDM3B_000039" "g.137754819C>G" "" "" "" "KDM3B(NM_016604.3):c.3613C>G (p.(Leu1205Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014077" "0" "50" "5" "137726911" "137726911" "subst" "4.07475E-6" "02325" "KDM3B_000040" "g.137726911G>A" "" "" "" "KDM3B(NM_016604.4):c.1590G>A (p.M530I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025034" "0" "50" "5" "137713472" "137713472" "subst" "0" "02325" "KDM3B_000041" "g.137713472G>A" "" "" "" "KDM3B(NM_016604.4):c.538G>A (p.A180T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034904" "0" "30" "5" "137713512" "137713512" "subst" "3.25235E-5" "01804" "KDM3B_000042" "g.137713512G>A" "" "" "" "KDM3B(NM_016604.4):c.578G>A (p.(Arg193Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034905" "0" "30" "5" "137715339" "137715339" "subst" "6.91321E-5" "01804" "KDM3B_000043" "g.137715339A>G" "" "" "" "KDM3B(NM_016604.4):c.647A>G (p.(Tyr216Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034906" "0" "30" "5" "137721754" "137721756" "del" "0" "01804" "KDM3B_000044" "g.137721754_137721756del" "" "" "" "KDM3B(NM_016604.4):c.824_826del (p.(Lys275del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034907" "0" "50" "5" "137726982" "137726982" "subst" "0" "01804" "KDM3B_000045" "g.137726982G>A" "" "" "" "KDM3B(NM_016604.4):c.1661G>A (p.(Arg554Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034908" "0" "30" "5" "137727482" "137727482" "subst" "0.000101827" "01804" "KDM3B_000046" "g.137727482G>A" "" "" "" "KDM3B(NM_016604.4):c.2161G>A (p.(Gly721Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034909" "0" "30" "5" "137736446" "137736447" "ins" "0" "01804" "KDM3B_000047" "g.137736446_137736447insCATT" "" "" "" "KDM3B(NM_016604.4):c.3199+745_3199+746insCATT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052109" "0" "30" "5" "137710904" "137710904" "subst" "0.000134143" "01804" "KDM3B_000048" "g.137710904C>T" "" "" "" "KDM3B(NM_016604.4):c.474+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052110" "0" "50" "5" "137713412" "137713412" "subst" "0" "01804" "KDM3B_000049" "g.137713412G>C" "" "" "" "KDM3B(NM_016604.4):c.478G>C (p.(Gly160Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052111" "0" "30" "5" "137720452" "137720453" "del" "0" "01804" "KDM3B_000050" "g.137720452_137720453del" "" "" "" "KDM3B(NM_016604.4):c.781-1259_781-1258del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052112" "0" "50" "5" "137734043" "137734043" "subst" "0" "01804" "KDM3B_000051" "g.137734043T>C" "" "" "" "KDM3B(NM_016604.4):c.3008T>C (p.(Met1003Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052113" "0" "50" "5" "137759842" "137759842" "subst" "0" "01804" "KDM3B_000052" "g.137759842G>C" "" "" "" "KDM3B(NM_016604.4):c.4051G>C (p.(Asp1351His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001062562" "0" "90" "5" "137688617" "137688617" "subst" "0" "00006" "KDM3B_000003" "g.137688617C>T" "" "{PMID:Diets 2019:30929739}" "" "" "" "De novo" "" "" "0" "" "" "g.138352928C>T" "" "pathogenic (dominant)" "" "0001062563" "21" "90" "5" "137708447" "137708447" "subst" "0" "00006" "KDM3B_000053" "g.137708447G>T" "" "{PMID:Diets 2019:30929739}" "" "" "" "Germline" "" "" "0" "" "" "g.138372758G>T" "" "pathogenic (dominant)" "" "0001062564" "0" "90" "5" "137708447" "137708447" "subst" "0" "00006" "KDM3B_000053" "g.137708447G>T" "" "{PMID:Diets 2019:30929739}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.138372758G>T" "" "pathogenic (dominant)" "" "0001062565" "0" "50" "5" "137708519" "137708519" "subst" "0" "00006" "KDM3B_000004" "g.137708519T>C" "" "{PMID:Diets 2019:30929739}" "" "" "" "De novo" "" "" "0" "" "" "g.138372830T>C" "" "VUS" "" "0001062566" "21" "50" "5" "137721937" "137721937" "subst" "0" "00006" "KDM3B_000054" "g.137721937A>G" "" "{PMID:Diets 2019:30929739}" "" "" "" "Germline" "" "" "0" "" "" "g.138386248A>G" "" "VUS" "" "0001062567" "0" "50" "5" "137721937" "137721937" "subst" "0" "00006" "KDM3B_000054" "g.137721937A>G" "" "{PMID:Diets 2019:30929739}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.138386248A>G" "" "VUS" "" "0001062568" "0" "90" "5" "137727800" "137727800" "subst" "0" "00006" "KDM3B_000055" "g.137727800C>T" "" "{PMID:Diets 2019:30929739}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.138392111C>T" "" "pathogenic (dominant)" "" "0001062569" "0" "70" "5" "137729057" "137729057" "subst" "0" "00006" "KDM3B_000056" "g.137729057C>T" "" "{PMID:Diets 2019:30929739}" "" "" "" "De novo" "" "" "0" "" "" "g.138393368C>T" "" "likely pathogenic (dominant)" "" "0001062570" "0" "70" "5" "137729058" "137729058" "subst" "0" "00006" "KDM3B_000057" "g.137729058G>A" "" "{PMID:Diets 2019:30929739}" "" "" "" "De novo" "" "" "0" "" "" "g.138393369G>A" "" "likely pathogenic (dominant)" "" "0001062571" "0" "70" "5" "137735585" "137735585" "subst" "0" "00006" "KDM3B_000005" "g.137735585G>A" "" "{PMID:Diets 2019:30929739}" "" "" "" "De novo" "" "" "0" "" "" "g.138399896G>A" "" "likely pathogenic (dominant)" "" "0001062572" "0" "70" "5" "137735597" "137735597" "subst" "0" "00006" "KDM3B_000006" "g.137735597A>T" "" "{PMID:Diets 2019:30929739}" "" "" "" "De novo" "" "" "0" "" "" "g.138399908A>T" "" "likely pathogenic (dominant)" "" "0001062573" "0" "70" "5" "137762901" "137762901" "subst" "0" "00006" "KDM3B_000008" "g.137762901T>C" "" "{PMID:Diets 2019:30929739}" "" "" "" "De novo" "" "" "0" "" "" "g.138427212T>C" "" "likely pathogenic (dominant)" "" "0001062574" "0" "90" "5" "137762924" "137762924" "subst" "0" "00006" "KDM3B_000058" "g.137762924C>T" "" "{PMID:Diets 2019:30929739}" "" "" "" "De novo" "" "" "0" "" "" "g.138427235C>T" "" "pathogenic (dominant)" "" "0001062575" "0" "70" "5" "137763006" "137763006" "subst" "0" "00006" "KDM3B_000059" "g.137763006A>G" "" "{PMID:Diets 2019:30929739}" "" "" "" "De novo" "" "" "0" "" "" "g.138427317A>G" "" "likely pathogenic (dominant)" "" "0001062576" "11" "70" "5" "137767234" "137767234" "subst" "0" "00006" "KDM3B_000023" "g.137767234G>A" "" "{PMID:Diets 2019:30929739}" "" "" "" "Germline" "" "" "0" "" "" "g.138431545G>A" "" "likely pathogenic (dominant)" "" "0001062577" "0" "70" "5" "137767234" "137767234" "subst" "0" "00006" "KDM3B_000023" "g.137767234G>A" "" "{PMID:Diets 2019:30929739}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.138431545G>A" "" "likely pathogenic (dominant)" "" "0001062578" "0" "70" "5" "137767244" "137767244" "subst" "0" "00006" "KDM3B_000060" "g.137767244T>G" "" "{PMID:Diets 2019:30929739}" "" "" "" "De novo" "" "" "0" "" "" "g.138431555T>G" "" "likely pathogenic (dominant)" "" ## 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 KDM3B ## Count = 71 "{{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}}" "0000079500" "00024646" "00" "-8388608" "0" "7951182" "0" "c.-13859961_*7945896dup" "" "" "" "0000330535" "00024646" "50" "13" "0" "13" "0" "c.13G>A" "r.(?)" "p.(Ala5Thr)" "" "0000330536" "00024646" "50" "4733" "0" "4733" "0" "c.4733G>T" "r.(?)" "p.(Gly1578Val)" "" "0000341668" "00024646" "70" "3083" "0" "3083" "0" "c.3083G>A" "r.(?)" "p.(Arg1028Gln)" "" "0000342925" "00024646" "50" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Ter)" "" "0000343867" "00024646" "50" "3095" "0" "3095" "0" "c.3095A>T" "r.(?)" "p.(Asp1032Val)" "" "0000349675" "00024646" "50" "349" "0" "349" "0" "c.349T>C" "r.(?)" "p.(Trp117Arg)" "" "0000524300" "00024646" "70" "3237" "0" "3237" "0" "c.3237G>A" "r.(?)" "p.(Trp1079Ter)" "" "0000524301" "00024646" "50" "4526" "0" "4526" "0" "c.4526T>C" "r.(?)" "p.(Leu1509Pro)" "" "0000524303" "00024646" "50" "10673" "0" "10673" "0" "c.*5387A>G" "r.(=)" "p.(=)" "" "0000689436" "00024646" "70" "356" "0" "356" "0" "c.356C>A" "r.(?)" "p.(Ala119Asp)" "" "0000694831" "00024646" "30" "1089" "0" "1089" "0" "c.1089C>T" "r.(?)" "p.(Asn363=)" "" "0000720195" "00024646" "50" "2386" "0" "2386" "0" "c.2386A>T" "r.(?)" "p.(Arg796Trp)" "" "0000720196" "00024646" "90" "2683" "0" "2683" "0" "c.2683G>T" "r.(?)" "p.(Gly895*)" "" "0000801906" "00024646" "50" "1364" "0" "1364" "0" "c.1364C>T" "r.(?)" "p.(Ser455Leu)" "" "0000801907" "00024646" "70" "2816" "0" "2816" "0" "c.2816T>C" "r.(?)" "p.(Phe939Ser)" "" "0000801908" "00024646" "70" "4981" "0" "4981" "0" "c.4981C>T" "r.(?)" "p.(Arg1661*)" "" "0000912228" "00024646" "50" "911" "0" "911" "0" "c.911G>T" "r.(?)" "p.(Gly304Val)" "" "0000912229" "00024646" "50" "3686" "0" "3686" "0" "c.3686C>T" "r.(?)" "p.(Ala1229Val)" "" "0000921074" "00024646" "50" "370" "0" "370" "0" "c.370C>A" "r.(?)" "p.(Pro124Thr)" "" "0000922637" "00024646" "70" "1880" "0" "1880" "0" "c.1880A>G" "r.(?)" "p.(Lys627Arg)" "" "0000924245" "00024646" "50" "3527" "0" "3527" "0" "c.3527A>C" "r.(?)" "p.(Asp1176Ala)" "" "0000924246" "00024646" "50" "4691" "0" "4691" "0" "c.4691C>A" "r.(?)" "p.(Ser1564Tyr)" "" "0000932943" "00024646" "50" "5191" "0" "5191" "0" "c.5191G>A" "r.(?)" "p.(Glu1731Lys)" "" "0000948480" "00024646" "90" "1796" "0" "1797" "0" "c.1796_1797del" "r.(?)" "p.(Pro599Hisfs*20)" "" "0000948481" "00024646" "50" "3317" "0" "3317" "0" "c.3317A>G" "r.(?)" "p.(Asn1106Ser)" "" "0000963437" "00024646" "50" "4387" "0" "4387" "0" "c.4387T>C" "r.(?)" "p.(Trp1463Arg)" "" "0000976558" "00024646" "50" "69" "0" "74" "0" "c.69_74del" "r.(?)" "p.(Ser27_Ala28del)" "" "0000976559" "00024646" "30" "360" "926" "360" "926" "c.360+926G>C" "r.(=)" "p.(=)" "" "0000976562" "00024646" "30" "2019" "0" "2019" "0" "c.2019C>G" "r.(?)" "p.(Ser673Arg)" "" "0000976563" "00024646" "30" "3415" "0" "3415" "0" "c.3415G>A" "r.(?)" "p.(Val1139Ile)" "" "0000976565" "00024646" "50" "10643" "0" "10643" "0" "c.*5357del" "r.(?)" "p.(=)" "" "0000994669" "00024646" "30" "722" "0" "722" "0" "c.722C>T" "r.(?)" "p.(Ser241Leu)" "" "0000994670" "00024646" "30" "1046" "0" "1046" "0" "c.1046A>G" "r.(?)" "p.(Gln349Arg)" "" "0000994671" "00024646" "30" "1184" "0" "1184" "0" "c.1184C>A" "r.(?)" "p.(Ala395Asp)" "" "0000994672" "00024646" "30" "1720" "0" "1720" "0" "c.1720G>A" "r.(?)" "p.(Val574Ile)" "" "0000994673" "00024646" "50" "1889" "0" "1889" "0" "c.1889G>A" "r.(?)" "p.(Arg630Gln)" "" "0000994674" "00024646" "50" "1891" "0" "1891" "0" "c.1891G>A" "r.(?)" "p.(Glu631Lys)" "" "0000994675" "00024646" "30" "2846" "0" "2846" "0" "c.2846G>A" "r.(?)" "p.(Arg949Gln)" "" "0000994676" "00024646" "50" "3371" "0" "3371" "0" "c.3371G>T" "r.(?)" "p.(Cys1124Phe)" "" "0000994677" "00024646" "30" "3613" "0" "3613" "0" "c.3613C>G" "r.(?)" "p.(Leu1205Val)" "" "0001014077" "00024646" "50" "1590" "0" "1590" "0" "c.1590G>A" "r.(?)" "p.(Met530Ile)" "" "0001025034" "00024646" "50" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Ala180Thr)" "" "0001034904" "00024646" "30" "578" "0" "578" "0" "c.578G>A" "r.(?)" "p.(Arg193Gln)" "" "0001034905" "00024646" "30" "647" "0" "647" "0" "c.647A>G" "r.(?)" "p.(Tyr216Cys)" "" "0001034906" "00024646" "30" "824" "0" "826" "0" "c.824_826del" "r.(?)" "p.(Lys275del)" "" "0001034907" "00024646" "50" "1661" "0" "1661" "0" "c.1661G>A" "r.(?)" "p.(Arg554Gln)" "" "0001034908" "00024646" "30" "2161" "0" "2161" "0" "c.2161G>A" "r.(?)" "p.(Gly721Arg)" "" "0001034909" "00024646" "30" "3199" "745" "3199" "746" "c.3199+745_3199+746insCATT" "r.(=)" "p.(=)" "" "0001052109" "00024646" "30" "474" "9" "474" "9" "c.474+9C>T" "r.(=)" "p.(=)" "" "0001052110" "00024646" "50" "478" "0" "478" "0" "c.478G>C" "r.(?)" "p.(Gly160Arg)" "" "0001052111" "00024646" "30" "781" "-1259" "781" "-1258" "c.781-1259_781-1258del" "r.(=)" "p.(=)" "" "0001052112" "00024646" "50" "3008" "0" "3008" "0" "c.3008T>C" "r.(?)" "p.(Met1003Thr)" "" "0001052113" "00024646" "50" "4051" "0" "4051" "0" "c.4051G>C" "r.(?)" "p.(Asp1351His)" "" "0001062562" "00024646" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45Ter)" "" "0001062563" "00024646" "90" "277" "0" "277" "0" "c.277G>T" "r.(?)" "p.(Glu93Ter)" "" "0001062564" "00024646" "90" "277" "0" "277" "0" "c.277G>T" "r.(?)" "p.(Glu93Ter)" "" "0001062565" "00024646" "50" "349" "0" "349" "0" "c.349T>C" "r.(?)" "p.(Trp117Arg)" "" "0001062566" "00024646" "50" "1007" "0" "1007" "0" "c.1007A>G" "r.(?)" "p.(Asp336Gly)" "" "0001062567" "00024646" "50" "1007" "0" "1007" "0" "c.1007A>G" "r.(?)" "p.(Asp336Gly)" "" "0001062568" "00024646" "90" "2479" "0" "2479" "0" "c.2479C>T" "r.(?)" "p.(Gln827Ter)" "" "0001062569" "00024646" "70" "2827" "0" "2827" "0" "c.2827C>T" "r.(?)" "p.(Arg943Trp)" "" "0001062570" "00024646" "70" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" "" "0001062571" "00024646" "70" "3083" "0" "3083" "0" "c.3083G>A" "r.(?)" "p.(Arg1028Gln)" "" "0001062572" "00024646" "70" "3095" "0" "3095" "0" "c.3095A>T" "r.(?)" "p.(Asp1032Val)" "" "0001062573" "00024646" "70" "4526" "0" "4526" "0" "c.4526T>C" "r.(?)" "p.(Leu1509Pro)" "" "0001062574" "00024646" "90" "4549" "0" "4549" "0" "c.4549C>T" "r.(?)" "p.(Arg1517Ter)" "" "0001062575" "00024646" "70" "4631" "0" "4631" "0" "c.4631A>G" "r.(?)" "p.(Tyr1544Cys)" "" "0001062576" "00024646" "70" "5191" "0" "5191" "0" "c.5191G>A" "r.(?)" "p.(Glu1731Lys)" "" "0001062577" "00024646" "70" "5191" "0" "5191" "0" "c.5191G>A" "r.(?)" "p.(Glu1731Lys)" "" "0001062578" "00024646" "70" "5201" "0" "5201" "0" "c.5201T>G" "r.(?)" "p.(Leu1734Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000050520" "0000079500" "0000313097" "0000694831" "0000435133" "0000921074" "0000436276" "0000922637" "0000437619" "0000932943" "0000473689" "0001062562" "0000473690" "0001062563" "0000473691" "0001062564" "0000473692" "0001062565" "0000473693" "0001062566" "0000473694" "0001062567" "0000473695" "0001062568" "0000473696" "0001062569" "0000473697" "0001062570" "0000473698" "0001062571" "0000473699" "0001062572" "0000473700" "0001062573" "0000473701" "0001062574" "0000473702" "0001062575" "0000473703" "0001062576" "0000473704" "0001062577" "0000473705" "0001062578"