### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DOT1L) # 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}}" "DOT1L" "DOT1-like, histone H3 methyltransferase (S. cerevisiae)" "19" "p13.3" "unknown" "NC_000019.9" "UD_132118989158" "" "https://www.LOVD.nl/DOT1L" "" "1" "24948" "84444" "607375" "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/DOT1L_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-11-05 09:05:01" "00006" "2023-11-04 15:17:44" ## 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}}" "00006638" "DOT1L" "DOT1-like, histone H3 methyltransferase (S. cerevisiae)" "001" "NM_032482.2" "" "NP_115871.1" "" "" "" "-36" "7400" "4614" "2164148" "2232577" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DOT1L" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00303298" "" "" "" "1" "" "00006" "Fliedner ESHG2020 C02.1, {PMID:Fliedner 2020:32730804}, {DOI:Fliedner 2020:10.1016/j.ajhg.2020.06.019}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Pat3" "00311909" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311910" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311911" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00440581" "" "" "" "1" "" "00006" "{PMID:Nil 2023:37827158}" "" "M" "" "Canada" "" "0" "" "" "China-Han;Europe" "Pat1" "00440582" "" "" "" "1" "" "00006" "{PMID:Nil 2023:37827158}" "" "F" "" "United States" "4y4m" "0" "" "" "" "Pat2" "00440583" "" "" "" "1" "" "00006" "{PMID:Nil 2023:37827158}" "" "M" "" "United States" "4m" "0" "" "" "Europe" "Pat3" "00440584" "" "" "" "1" "" "00006" "{PMID:Nil 2023:37827158}" "" "M" "" "China" "" "0" "" "" "Han" "Pat4" "00440585" "" "" "" "1" "" "00006" "{PMID:Nil 2023:37827158}" "" "F" "" "New Zealand" "" "0" "" "" "Europe-W;Europe-E" "Pat5" "00440586" "" "" "" "1" "" "00006" "{PMID:Nil 2023:37827158}" "" "M" "" "France" "" "0" "" "" "Europe;Romania" "Pat6" "00440587" "" "" "" "1" "" "00006" "{PMID:Nil 2023:37827158}" "" "M" "" "Norway" "" "0" "" "" "" "Pat7" "00440588" "" "" "" "1" "" "00006" "{PMID:Nil 2023:37827158}" "" "M" "" "China" "" "0" "" "" "Han" "Pat8" "00440589" "" "" "" "1" "" "00006" "{PMID:Nil 2023:37827158}" "" "M" "" "France" "" "0" "" "" "Maghreb" "Pat9" "00440590" "" "" "" "1" "" "00006" "{PMID:Nil 2023:37827158}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat10" "00440591" "" "" "" "1" "" "00006" "{PMID:Nil 2023:37827158}" "" "F" "" "United States" "" "0" "" "" "" "Pat11" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00303298" "05611" "00311909" "00198" "00311910" "00198" "00311911" "00198" "00440581" "05611" "00440582" "05611" "00440583" "05611" "00440584" "05611" "00440585" "05611" "00440586" "05611" "00440587" "05611" "00440588" "05611" "00440589" "05611" "00440590" "05611" "00440591" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05611 ## Count = 12 "{{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}}" "0000230374" "05611" "00303298" "00006" "Isolated (sporadic)" "16y" "height 162.6 cm (SD −1.6), weight 67.5kg (SD 0.40); mild developmental delay/intellectual disability; 14m-walk; 2.5y-first words, 3y-speech therapy; no regression; no seizures; ultrasound brain normal; no muscular hypotonia; autistic features in infancy; ventricle septum defect, bicuspid aortic valve, hypoplastic aortic arch, dilated cardiomyopathy; unilateral agenesis; cryptorchidism; tracheesophageal fistula, imperforate anus; sacrum segmentation anomaly, brachydactyly; tethered cord, hypothyroidism" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000330493" "05611" "00440581" "00006" "Isolated (sporadic)" "5y" "birth 41w+5, weight 3595g; MRI brain cortical dysplasia, periventricular heterotopia; atrial septal defect, persistent left supervior vena cava; hypotonia; hip subluxation; hypospadias with chordee; sensorineural and conductive; stenosis external auditory canal; severe global developmental delay; no speech; length short (2.94%); no microcephaly (97%); 9m-sit and rolled over, 3y-crawl, last assessment able to stand only with support; no seizures; unilateral choanal stenosis; aspiration pneumonias; oral motor dysfunction, GERD, no G-tube; no hematologic problems; neonatal hypoglycemia (requiring glucagon infusion); short 5th digits on hands, overlapping 2nd and 3rd toes, hypoplastic 5th toenails; hypertelorism, wide anterior fontanel, wide nasal bridge, s-shaped palpebral fissures, midface retraction; yes:anisometropic high myopia and amblyopia, tortuous retinal vessels in the left eye, blepharophimosis; café au lait spot on L arm" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000330494" "05611" "00440582" "00006" "Isolated (sporadic)" "4y4m" "4y4m-deceased due to worsening respiratory events and quality of life, compassionate withdrawal from life-sustaining therapies and ventilator support; birth 39w, weight 3620g, length 50.8cm, OFC 34.3cm; MRI brain normal; myocarditis with cardiomyopathy, resolved by 1y; hypotonia; hyperflexible hip joints; no urogenital anomalies; 9m-lack of reaction to loud stimuli or startle responses; global developmental delay; no speech; length short (4.95%); no microcephaly (60%); 3y-sit, but lost this ability, last assessment not able to sit independently or crawl, able to roll; no seizures; central and obstructive apneas, aspiration pneumonia, trach dependent; G-tube dependent; no hematologic problems; partial growth hormone deficiency, receives growth hormone treatment; no abnormalities hand/feet; full cheeks, myopathic face, tented upper lip, small epicanthal folds, depressed nasal bridge, high arched palate, ptosis of left eyelid; yes: strabismus, conjugate gaze palsy, ptosis of left eye lid;" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000330495" "05611" "00440583" "00006" "Unknown" "4m" "deceased, cardiorespiratory arrest during sleep, possibly in setting of intercurrent illness, on background of severe neurological impairmen; tbirth 41w, weight 3780g, OFC 37.5cm; MRI brain hypoxic ischemic encephalopathy; large ventricular septal defect, moderate size atrial septal defect/patent ductus arteriosus; hypotonia; tall vertebral bodies, anomalous ribs (first 3), non ossified patella; hypospadias; no hearing loss; severe global developmental delay; microcephaly (<3.0%); no head control prior to death; seizures, EEG w/ persistent epileptiform discharges, possibility of infantile spasms; on home oxygen; tube fed; transient neonatal thrombocytopenia; hypothyroidism, may be transient; no abnormalities hand/feet; retrognathia, unusual philtrum with very narrow deep midline groove, tented mouth with downturned corners, pointed chin, maxillary areas appear small; no ophthalmological anomalies;" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000330496" "05611" "00440584" "00006" "Isolated (sporadic)" "5y" "birth 39w; MRI brain bilateral brain atrophy, bilateral frontotemporal extra brain space widening, multiple small cysts in the corpus callosum; atrial septal defect; no hypotonia; cryptorchidism; mild hearing loss in both ears; severe global developmental delay; only a few words; 8m-head control, 18m-rolled ove, 27m-crawl, 3y-walk unsteadily; no seizures; dysplasia teeth, laryngomalacia; aspiration pneumonias; feeding difficulties, choking on milk easily; no hematologic problems; congenital hypothyroidism; no abnormalities hand/feet; wide eye distance, wide nose bridge and wings, mouth salivation, thick lips, micrognathia; no ophthalmological anomalies;" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000330497" "05611" "00440585" "00006" "Isolated (sporadic)" "3y11m" "birth 37w+6, weight 2551g, length 49.5cm,; MRI brain optic nerve hypoplasia/tract truncated corpus callosum; no cardiac anomalies; hypotonia; hip laxity; grade 1 vesicoureteral reflux; no hearing loss; severe global developmental delay; no speech; length normal (93.3%); microcephaly (4.0%); 19m-crawl, 3y- walk; no seizures; no respiratory problems; chronic constipation; no hematologic problems; no abnormalities hand/feet; brachycephaly, forehead was broad but not overly tall, palpebral fissures with lateral tapering and residual epicanthal folds, flattened nasal tip; optic nerve hypoplasia, reduced visual acuity; autism" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000330498" "05611" "00440586" "00006" "Isolated (sporadic)" "6y" "birth weight 2810g, length 49cm, OFC 35cm; MRI brain enlarged Virchow Robin spaces, tentorial herniation; no cardiac anomalies; hypotonia; no musculoskeletal anomalies; no urogenital anomalies; no hearing loss; severe global developmental delay; only a few words; length short (0.64%); microcephaly (3.0%); 12m-sit, 2y-walked; no seizures; no respiratory problems; no feeding problems; transient neonatal thrombopenia; no abnormalities hand/feet; hypertelorism, epicanthal folds, up-slanting palpebral fissures, synophrys, bulbous nose; no ophthalmological anomalies; eczema" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000330499" "05611" "00440587" "00006" "Isolated (sporadic)" "7y" "birth 31w+2, weight 942g, length 34cm, OFC 25.7cm; MRI brain normal; ventricular septal defect; no hypotonia; pain after physical exercise, low endurance; small penis; sensorineural w/ bilateral semi-circular canal dysplasia; global developmental delay; only a few words; length short (0.40%); microcephaly (<1.0%); 18m-walk unsteadily, wears a helmet because of frequent falls; no seizures; unilateral narrow apertura piriformis; no respiratory problems; partially G-tube dependent; no hematologic problems; no abnormalities hand/feet; underdeveloped upper helix of external ear bilaterally, short palpebral fissures, smooth philtrum, prominent forehead; no ophthalmological anomalies; hemi-vertebra th8, spilt th3, 13 ribs left" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000330500" "05611" "00440588" "00006" "Isolated (sporadic)" "4y" "birth 40w; MRI brain bilateral brain atrophy, focal cortical dysplasia; no cardiac anomalies; no hypotonia; no urogenital anomalies; no hearing loss; mild global developmental delay; only a few words; microcephaly (n/d); 4m-head control, 6m-crawle, 18m-walk unsteadily; no seizures; pneumonias; feeding difficulties, poor sucking, diarrhea; no hematologic problems; subclinical hypothyroidism; no abnormalities hand/feet; small eye fissure and wide eye distance,wide nasal bridge and nostrils up; no ophthalmological anomalies;" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000330501" "05611" "00440589" "00006" "Isolated (sporadic)" "21y" "birth weight 2980g, length 49cm, OFC 36cm; MRI brain cerebellar atrophy, megalencephaly; no cardiac anomalies; no hypotonia; no musculoskeletal anomalies; no urogenital anomalies; no hearing loss; global developmental delay; only a few words; length normal (39.7%); no microcephaly (>99%); 2y-walk; 11y-seizures, clonic, generalized and absence; no respiratory problems; no feeding problems; no hematologic problems; no abnormalities hand/feet; high forehead, prognathism, large tip of nose; no ophthalmological anomalies;" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000330502" "05611" "00440590" "00006" "Unknown" "11y" "no cardiac anomalies; no hypotonia; no musculoskeletal anomalies; no urogenital anomalies; no hearing loss; no ophthalmological anomalies; global developmental delay; intellectual disability; no speech; height percentile 27.8; no microcephaly" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000330503" "05611" "00440591" "00006" "Unknown" "00y11m" "no cardiac anomalies; no hypotonia; torticollis, flexible hips, leg length discrepancy, right sided weakness with facial asymmetry; no urogenital anomalies; hearing loss; amblyopia, anisometropia; speech delay, articulation concern; height percentile 3.3; no microcephaly" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000304423" "00303298" "1" "00006" "00006" "2020-06-09 19:07:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000313081" "00311909" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313082" "00311910" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313083" "00311911" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000442066" "00440581" "1" "00006" "00006" "2023-11-04 14:53:49" "00006" "2023-11-04 14:54:57" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "WES" "0000442067" "00440582" "1" "00006" "00006" "2023-11-04 14:53:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442068" "00440583" "1" "00006" "00006" "2023-11-04 14:53:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442069" "00440584" "1" "00006" "00006" "2023-11-04 14:53:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442070" "00440585" "1" "00006" "00006" "2023-11-04 14:53:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442071" "00440586" "1" "00006" "00006" "2023-11-04 14:53:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442072" "00440587" "1" "00006" "00006" "2023-11-04 14:53:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442073" "00440588" "1" "00006" "00006" "2023-11-04 14:53:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442074" "00440589" "1" "00006" "00006" "2023-11-04 14:53:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442075" "00440590" "1" "00006" "00006" "2023-11-04 15:11:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442076" "00440591" "1" "00006" "00006" "2023-11-04 15:16:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000304423" "SCAF4" "0000313081" "DOT1L" "0000313082" "DOT1L" "0000313083" "DOT1L" ## 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 = 18 "{{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}}" "0000275491" "0" "30" "19" "2216658" "2216658" "subst" "4.65097E-5" "01943" "DOT1L_000002" "g.2216658G>C" "" "" "" "DOT1L(NM_032482.2):c.2302G>C (p.A768P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2216659G>C" "" "likely benign" "" "0000275492" "0" "30" "19" "2217035" "2217035" "subst" "6.1248E-5" "01943" "DOT1L_000003" "g.2217035G>A" "" "" "" "DOT1L(NM_032482.2):c.2490G>A (p.P830=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2217036G>A" "" "likely benign" "" "0000275493" "0" "50" "19" "2191215" "2191215" "subst" "0" "01943" "DOT1L_000001" "g.2191215G>A" "" "" "" "DOT1L(NM_032482.2):c.469G>A (p.D157N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2191216G>A" "" "VUS" "" "0000682822" "0" "50" "19" "2220180" "2220180" "subst" "0" "00006" "DOT1L_000004" "g.2220180C>T" "" "{PMID:Fliedner 2020:32730804}, {DOI:Fliedner 2020:10.1016/j.ajhg.2020.06.019}" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000694815" "0" "70" "19" "2207590" "2207590" "subst" "0" "00006" "DOT1L_000005" "g.2207590C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "no possible causative variants identified in other genes" "De novo" "" "" "0" "" "" "g.2207591C>T" "" "likely pathogenic" "ACMG" "0000694816" "11" "50" "19" "2216704" "2216704" "subst" "3.42645E-5" "00006" "DOT1L_000006" "g.2216704G>A" "" "{PMID:Faundes 2018:29276005}" "" "" "no possible causative variants identified in other genes" "Germline" "" "" "0" "" "" "g.2216705G>A" "" "VUS" "ACMG" "0000694817" "21" "30" "19" "2226728" "2226728" "subst" "0.000116676" "00006" "DOT1L_000007" "g.2226728C>A" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in SYNE1" "Germline" "" "" "0" "" "" "g.2226729C>A" "" "likely benign" "ACMG" "0000940028" "0" "70" "19" "2185861" "2185861" "subst" "0" "00006" "DOT1L_000009" "g.2185861T>G" "" "{PMID:Nil 2023:37827158}" "" "" "" "De novo" "" "" "0" "" "" "g.2185862T>G" "" "likely pathogenic (dominant)" "" "0000940029" "0" "70" "19" "2191045" "2191045" "subst" "4.20309E-6" "00006" "DOT1L_000010" "g.2191045C>T" "" "{PMID:Nil 2023:37827158}" "" "" "" "De novo" "" "" "0" "" "" "g.2191046C>T" "" "likely pathogenic (dominant)" "" "0000940030" "0" "70" "19" "2191113" "2191113" "subst" "0" "00006" "DOT1L_000011" "g.2191113G>A" "" "{PMID:Nil 2023:37827158}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2191114G>A" "" "likely pathogenic (dominant)" "" "0000940031" "0" "70" "19" "2191113" "2191113" "subst" "0" "00006" "DOT1L_000011" "g.2191113G>A" "" "{PMID:Nil 2023:37827158}" "" "" "" "De novo" "" "" "0" "" "" "g.2191114G>A" "" "likely pathogenic (dominant)" "" "0000940032" "0" "70" "19" "2191113" "2191113" "subst" "0" "00006" "DOT1L_000011" "g.2191113G>A" "" "{PMID:Nil 2023:37827158}" "" "" "" "De novo" "" "" "0" "" "" "g.2191114G>A" "" "likely pathogenic (dominant)" "" "0000940033" "0" "70" "19" "2191131" "2191131" "subst" "0" "00006" "DOT1L_000012" "g.2191131G>A" "" "{PMID:Nil 2023:37827158}" "" "" "" "De novo" "" "" "0" "" "" "g.2191132G>A" "" "likely pathogenic (dominant)" "" "0000940034" "0" "70" "19" "2214548" "2214548" "subst" "0" "00006" "DOT1L_000013" "g.2214548C>G" "" "{PMID:Nil 2023:37827158}" "" "" "" "De novo" "" "" "0" "" "" "g.2214549C>G" "" "likely pathogenic (dominant)" "" "0000940035" "0" "70" "19" "2217783" "2217783" "subst" "0" "00006" "DOT1L_000014" "g.2217783C>T" "" "{PMID:Nil 2023:37827158}" "" "" "" "De novo" "" "" "0" "" "" "g.2217784C>T" "" "likely pathogenic (dominant)" "" "0000940036" "0" "70" "19" "2222242" "2222242" "subst" "4.07804E-6" "00006" "DOT1L_000015" "g.2222242A>T" "" "{PMID:Nil 2023:37827158}" "" "" "" "De novo" "" "" "0" "" "" "g.2222243A>T" "" "likely pathogenic (dominant)" "" "0000940040" "0" "50" "19" "2207590" "2207590" "subst" "0" "00006" "DOT1L_000005" "g.2207590C>T" "" "{PMID:Nil 2023:37827158}" "" "" "" "De novo" "" "" "0" "" "" "g.2207591C>T" "" "VUS" "" "0000940041" "11" "50" "19" "2211098" "2211098" "subst" "0.000118403" "00006" "DOT1L_000008" "g.2211098A>G" "" "{PMID:Nil 2023:37827158}" "" "" "inherited from unaffected father" "Germline" "" "" "0" "" "" "g.2211099A>G" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes DOT1L ## Count = 18 "{{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}}" "0000275491" "00006638" "30" "2302" "0" "2302" "0" "c.2302G>C" "r.(?)" "p.(Ala768Pro)" "" "0000275492" "00006638" "30" "2490" "0" "2490" "0" "c.2490G>A" "r.(?)" "p.(Pro830=)" "" "0000275493" "00006638" "50" "469" "0" "469" "0" "c.469G>A" "r.(?)" "p.(Asp157Asn)" "" "0000682822" "00006638" "50" "2765" "0" "2765" "0" "c.2765C>T" "r.(?)" "p.(Ala922Val)" "" "0000694815" "00006638" "70" "874" "0" "874" "0" "c.874C>T" "r.(?)" "p.(Arg292Cys)" "" "0000694816" "00006638" "50" "2348" "0" "2348" "0" "c.2348G>A" "r.(?)" "p.(Arg783Gln)" "" "0000694817" "00006638" "30" "4208" "0" "4208" "0" "c.4208C>A" "r.(?)" "p.(Thr1403Asn)" "" "0000940028" "00006638" "70" "133" "0" "133" "0" "c.133T>G" "r.(?)" "p.(Cys45Gly)" "" "0000940029" "00006638" "70" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Thr100Met)" "" "0000940030" "00006638" "70" "367" "0" "367" "0" "c.367G>A" "r.(?)" "p.(Glu123Lys)" "" "0000940031" "00006638" "70" "367" "0" "367" "0" "c.367G>A" "r.(?)" "p.(Glu123Lys)" "" "0000940032" "00006638" "70" "367" "0" "367" "0" "c.367G>A" "r.(?)" "p.(Glu123Lys)" "" "0000940033" "00006638" "70" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Glu129Lys)" "" "0000940034" "00006638" "70" "1876" "0" "1876" "0" "c.1876C>G" "r.(?)" "p.(Leu626Val)" "" "0000940035" "00006638" "70" "2557" "0" "2557" "0" "c.2557C>T" "r.(?)" "p.(Arg853Cys)" "" "0000940036" "00006638" "70" "3074" "0" "3074" "0" "c.3074A>T" "r.(?)" "p.(Lys1025Met)" "" "0000940040" "00006638" "50" "874" "0" "874" "0" "c.874C>T" "r.(?)" "p.(Arg292Cys)" "" "0000940041" "00006638" "50" "1352" "0" "1352" "0" "c.1352A>G" "r.(?)" "p.(Asp451Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000304423" "0000682822" "0000313081" "0000694815" "0000313082" "0000694816" "0000313083" "0000694817" "0000442066" "0000940028" "0000442067" "0000940029" "0000442068" "0000940030" "0000442069" "0000940031" "0000442070" "0000940032" "0000442071" "0000940033" "0000442072" "0000940034" "0000442073" "0000940035" "0000442074" "0000940036" "0000442075" "0000940040" "0000442076" "0000940041"