### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MEIS2) # 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}}" "MEIS2" "Meis homeobox 2" "15" "q14" "unknown" "NG_029108.1" "UD_132377015491" "" "https://www.LOVD.nl/MEIS2" "" "1" "7001" "4212" "601740" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-02-02 16:33:57" "00000" "2025-05-05 21:14:00" ## 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}}" "00011998" "MEIS2" "transcript variant a" "006" "NM_170677.3" "" "NP_733777.1" "" "" "" "-1074" "2682" "1206" "37392741" "37183222" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05392" "CPCMR" "cleft palate, cardiac defects, and mental retardation (CPCMR)" "AD" "600987" "brain;mouth;heart muscle" "autosomal dominant" "" "00001" "2018-02-02 12:22:52" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MEIS2" "05392" ## Individuals ## Do not remove or alter this header ## ## Count = 30 "{{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}}" "00152012" "" "" "" "1" "" "02261" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "M" "no" "Morocco" "05y" "0" "" "" "" "Pat1" "00152013" "" "" "" "1" "" "02261" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "M" "no" "Ireland" "10y11m" "" "" "" "" "Pat2" "00152014" "" "" "" "1" "" "02261" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "M" "no" "" "04y" "" "" "" "" "Pat3" "00152015" "" "" "" "1" "" "02261" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "F" "no" "" "20y" "" "" "" "" "Pat4" "00152123" "" "" "" "1" "" "02261" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "M" "no" "" "13y" "" "" "" "" "Pat5" "00152124" "" "" "" "1" "" "02261" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "F" "no" "" "05y08m" "" "" "" "" "Pat6" "00152125" "" "" "" "1" "" "02261" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "F" "no" "" "18y03m" "" "" "" "" "Pat7" "00152126" "" "" "" "1" "" "02261" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "F" "no" "Belgium" "11y" "" "" "" "" "Pat8" "00152128" "" "" "" "1" "" "02261" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "M" "no" "Germany" "01y01m" "" "" "" "" "Pat9" "00208559" "" "" "" "1" "" "03128" "" "" "M" "no" "" "" "0" "" "" "" "" "00302884" "" "" "" "1" "" "00006" "{PMID:Srivastava 2018:29322350}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat5" "00359545" "" "" "" "2" "" "03580" "{PMID:Santoro 2021:33722742}" "" "M" "no" "Italy" "" "" "" "" "" "" "00377302" "" "" "" "1" "" "00006" "{PMID:Louw 2015:25712757}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Belgium" "" "0" "" "" "" "patient" "00377303" "" "" "" "1" "" "00006" "{PMID:Fujita 2016:27225850}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "France" "" "0" "" "" "" "patient" "00377305" "" "" "" "1" "" "00006" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "M" "" "" "" "0" "" "" "" "PatA" "00377306" "" "" "" "1" "" "00006" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "M" "" "" "" "0" "" "" "" "PatB" "00377307" "" "" "" "1" "" "00006" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "F" "" "" "" "0" "" "" "" "PatC" "00377308" "" "" "" "1" "" "00006" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "M" "" "" "" "0" "" "" "" "PatD" "00377309" "" "" "" "1" "" "00006" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "F" "" "" "" "0" "" "" "" "PatE" "00377310" "" "" "" "1" "" "00006" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "M" "" "" "" "0" "" "" "" "PatF" "00377311" "" "" "" "1" "" "00006" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "M" "" "" "" "0" "" "" "" "PatG" "00377312" "" "" "" "1" "" "00006" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "F" "" "" "" "0" "" "" "" "PatH" "00377313" "" "" "" "1" "" "00006" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "M" "" "" "" "0" "" "" "" "PatI" "00377314" "" "" "" "1" "" "00006" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "M" "" "" "" "0" "" "" "" "PatJ" "00377315" "" "" "" "1" "" "00006" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "F" "" "" "" "0" "" "" "" "PatK" "00377316" "" "" "" "1" "" "00006" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "M" "" "" "" "0" "" "" "" "PatL" "00377317" "" "" "" "1" "" "00006" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "M" "" "" "" "0" "" "" "" "PatM" "00377318" "" "" "" "1" "" "00006" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "F" "" "" "" "0" "" "" "" "PatN" "00416608" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "203615" "00433655" "" "" "" "1" "" "03544" "" "" "" "" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 29 "{{individualid}}" "{{diseaseid}}" "00152012" "05392" "00152013" "05392" "00152014" "05392" "00152015" "05392" "00152123" "05392" "00152124" "05392" "00152125" "05392" "00152126" "05392" "00152128" "05392" "00302884" "00139" "00359545" "05392" "00377302" "00198" "00377303" "00198" "00377305" "00198" "00377306" "00198" "00377307" "00198" "00377308" "00198" "00377309" "00198" "00377310" "00198" "00377311" "00198" "00377312" "00198" "00377313" "00198" "00377314" "00198" "00377315" "00198" "00377316" "00198" "00377317" "00198" "00377318" "00198" "00416608" "05392" "00433655" "05392" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05392 ## Count = 28 "{{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}}" "0000125481" "05392" "00152012" "02261" "Familial, autosomal dominant" "05y" "cleft palate (HP:0000175); prominent metopic ridge (HP:HP:0005487); downslanting palpebral fissures (HP:0000494); eversion of lower eyelids (HP:0007655); arched eyebrows (HP:0002553); hypoplastic alae nasi (HP:0000430); intellectual disability, mild (HP:0001256); perimembranous ventricular septal defect (HP:0011682); microcephaly (HP:0000252)" "" "05y" "" "" "" "" "" "" "MEIS2-related syndrome" "" "" "0000125482" "05392" "00152013" "02261" "Familial, autosomal dominant" "" "unilateral ptosis (HP:0007687); dysplastic ears (HP:0000377); intellectual disability, mild to moderate (HP:0001256); cleft palate (HP:0000175); autism (HP:0000717)" "" "" "" "" "" "" "" "" "MEIS2-related syndrome" "" "" "0000125483" "05392" "00152014" "02261" "Familial, autosomal dominant" "04y" "submucous cleft palate (HP:0011819); prominent metopic ridge (HP:0005487); protruding ears (HP:0000411); epicanthic folds (HP:0000286); hypoplastic alae nasi (HP:0000430); prominent ears (HP:0000411); frontal upsweep of hair (HP:0002236); intellectual disability, moderate (HP:0002342)" "" "" "" "" "" "" "" "" "MEIS2-related syndrome" "" "" "0000125484" "05392" "00152015" "02261" "Familial, autosomal dominant" "" "cleft palate (HP:0000175); mitral regurgitation (HP:0001653); broad forehead (HP:0000337); bitemporal narrowing (HP:0000341)" "" "20y" "" "" "" "" "" "" "MEIS2-related syndrome" "" "" "0000125485" "05392" "00152123" "02261" "Familial, autosomal dominant" "" "bifid uvula (HP:0000193); broad forehead (HP:0000337); medial flaring of eyebrows (HP:0010747); hypertelorism (HP:0000316); distichiasis (HP:0009743); thin upper lip (HP:0000219); beaked nose (HP:0003683); retrognathia (HP:0000278); intellectual disability, mild (HP:0001256); cryptorchidism (HP:0000028); iris nevus (HP:0011525); precocious puberty (HP:0008185); scoliosis (HP:0002650)" "" "" "" "" "" "" "" "" "MEIS2-related syndrome" "" "" "0000125486" "05392" "00152124" "02261" "Familial, autosomal dominant" "" "cleft palate (HP:0000175); high arched eyebrows (HP:0002553); thin eyebrows (HP:0045074); hypoplastic alae nasi (HP:0000430); short stature (HP:0004322); intellectual disability, mild (HP:0001256); hypoplastic corpus callosum (HP:0007370)" "" "05y08m" "" "" "" "" "" "" "MEIS2-related syndrome" "" "" "0000125487" "05392" "00152125" "02261" "Familial, autosomal dominant" "18y03m" "Tetralogy of Fallot (HP:0001636); Ebstein\'s malformation (HP:0010316); feeding difficulties (HP:0011968); strabismus (HP:0025068); scoliosis (HP:0002650); learning problems (HP:0001328)" "" "" "" "" "" "" "" "" "MEIS2-related syndrome" "" "" "0000125488" "05392" "00152126" "02261" "Familial, autosomal dominant" "" "cleft soft palate (HP:0000185); Ebstein\'s malformation (HP:0010316); VSD (HP:0011682); type secundum atrial septal defect (HP:0001684); high forehead (HP:0000348); broad forehead (HP:0000337); arched eyebrows (HP:0002553); thin eyebrows (HP:0045074); hypoplastic alae nasi (HP:0000430); short philtrum (HP:0000322); lowset ears (HP:0000369); dysplastic ears (HP:0000377); preauricular pit (HP:0004467); intellectual disability (HP:0001256); feeding difficulties (HP:0011968); oligodontia (HP:0000677); overriding toes (HP:0001845)" "" "11y" "" "" "" "" "" "" "" "" "" "0000125489" "05392" "00152128" "02261" "Familial, autosomal dominant" "" "ventricular septal defect (HP:0011682); secundum atrial septal defect (HP:0001684); pulmonary vein stenosis (HP:0005304); frontal bossing (HP:0002007); high frontal hairline (HP:0009890); bitemporal narrowing (HP:0000341); short palpebral fissures (HP:0012745); hypertelorism (HP:0000316); full cheeks (HP:0000293); low nasal bridge (HP:0005280); anteverted nares (HP:0000463); small mouth (HP:0000160); microcephaly (HP:0000252); short stature (HP:0004322); intellectual disability, profound (HP:0002187); duodenal stenosis (HP:0100867); feeding difficulties (HP:0011968); hypothyroidism (HP:0000851); inguinal hernia (HP:0000023)" "" "01y01m" "" "" "" "" "" "" "MEIS2-related syndrome" "" "" "0000229962" "00139" "00302884" "00006" "Isolated (sporadic)" "" "see paper; ..., intellectual disability, autism, epilepsy, hypotonia" "" "" "" "" "" "" "" "" "" "intellectual disability, RETT-like syndrome" "" "0000272454" "00198" "00377302" "00006" "Isolated (sporadic)" "04y" "see paper; ..., intellectual disability; atrial septal defect II, ventricular septal defect, left ventricular outflow tract obstruction, coarctation aorta; soft and hard cleft palate; severe gross motor and verbal delay; autism spectrum disorder" "" "" "" "" "" "" "" "" "" "multiple congenital malformation" "" "0000272455" "00198" "00377303" "00006" "Isolated (sporadic)" "00y18m" "see paper; ..., severe intellectual disability, moderate motor/verbal developmental delay, cleft palate, cardiac septal defect, hypermetropia, severe feeding difficulties with gastro-esophageal reflux, constipation" "" "" "" "" "" "" "" "" "" "" "" "0000272456" "00198" "00377305" "00006" "Isolated (sporadic)" "13y" "no cleft palate; no congenital heart defect; normal; hypoplasia of glenoid cavity; moderate intellectual disability; walk-27m; autism; dyspraxia" "" "" "" "" "" "" "" "" "" "" "" "0000272457" "00198" "00377306" "00006" "Isolated (sporadic)" "3y6m" "cleft palate; no congenital heart defect; mild dysmorphic features; normal limbs; mild intellectual disability; walk-18m" "" "" "" "" "" "" "" "" "" "" "" "0000272458" "00198" "00377307" "00006" "Isolated (sporadic)" "5y" "no cleft palate; no congenital heart defect; prominent forehead, flat face, sparse eyebrows, epicanthic folds, hypertelorism, bulbous nasal tip; clinodactyly V; psychomotor delay; walk-15m; autism; hypotonia, joint laxity, sacral dimple, paraumbilical hernia" "" "" "" "" "" "" "" "" "" "" "" "0000272459" "00198" "00377308" "00006" "Unknown" "12y" "bifid uvula; no congenital heart defect; protruding ears, high anterior hairline, long columella; prominent fingertip pads; intellectual disability; walk-24m; feeding problems, joint laxity, CAL spot, cryptorchidism" "" "" "" "" "" "" "" "" "" "" "" "0000272460" "00198" "00377309" "00006" "Isolated (sporadic)" "10y9m" "no cleft palate; no congenital heart defect; dysmorphic, wide mouth; pes planus, long and narrow feet; intellectual disability; four large CAL spots, hypotonia, MRI broad sulci" "" "" "" "" "" "" "" "" "" "" "" "0000272461" "00198" "00377310" "00006" "Unknown" "13y" "bifid uvula, high-arched palate; no congenital heart defect; normal; normal limbs; moderate intellectual disability; walk-14m; normal behaviour; large CAL spots, dyspraxia" "" "" "" "" "" "" "" "" "" "" "" "0000272462" "00198" "00377311" "00006" "Unknown" "" "cleft palate; atrial septal defect; normal; normal limbs; moderate intellectual disability; 19m-not walking" "" "" "" "" "" "" "" "" "" "" "" "0000272463" "00198" "00377312" "00006" "Isolated (sporadic)" "5y8m" "no cleft palate; no congenital heart defect; anteverted nares, asymmetric ears with abnormal helix; normal limbs; intellectual disability; walk-30m; normal behaviour; bitemporal depigmentation area, migraine-like headaches" "" "" "" "" "" "" "" "" "" "" "" "0000272464" "00198" "00377313" "00006" "Isolated (sporadic)" "5y6m" "cleft palate; no congenital heart defect; high forehead, hypertelorism, eyes slant down, broad philtrum, hypoplastic alae nasi, absent alarfacial groove, mild retrognathia; normal limbs; motor delay, learning problems; walk-3y; ADD, anxiety; hypotonia, hyperlaxity" "" "" "" "" "" "" "" "" "" "" "" "0000272465" "00198" "00377314" "00006" "Isolated (sporadic)" "11y" "bifid uvula; convex nasal bridge, large prominent nose with beaked tip, short upturned philtrum, high palate, prominent upper gums and central incisors; arachnodactyly; severe intellectual disability; walk-4y; severe myopia, joint laxity" "" "" "" "" "" "" "" "" "" "" "" "0000272466" "00198" "00377315" "00006" "Isolated (sporadic)" "28y" "cleft palate; atrial and ventricular septal defect; bitemporal narrowing, hypertelorism, short alae nasi, large central incisors, narrow palate with cleft; long fingers; moderate intellectual disability; walk-20m; anxiety; astigmatism, hypermetropia, multiple naevi (no CAL spots)" "" "" "" "" "" "" "" "" "" "" "" "0000272467" "00198" "00377316" "00006" "Isolated (sporadic)" "16y" "cleft palate; mitral valve prolapse; large dysplastic ears, long and thin nose, hypoplastic alae nasi, low nasal tip, short philtrum, dolichocephaly; broad thumbs; moderate intellectual disability; walk-34m; normal behaviour; joint laxity, myopia, cryptorchidism, 4 CAL spots" "" "" "" "" "" "" "" "" "" "" "" "0000272468" "00198" "00377317" "00006" "Isolated (sporadic)" "2y3m" "velopharyngeal insufficiency; patent ductus arteriosus (surgery); bitemporal narrowing, downslanting palpebral fissures, malar hypoplasia, short philtrum, small mouth; short hands and feet; moderate/severe intellectual disability; walk-26m; autism; feeding problems, sleep disorder, GE-reflux, hypotonia, hyperlaxity, hypoplastic nipples" "" "" "" "" "" "" "" "" "" "" "" "0000272469" "00198" "00377318" "00006" "Unknown" "5y6m" "cleft palate; tetralogy of fallot; short palpebral fissures, prominent nasal bridge, pointed nasal tip, thin upper lip, retrognathia; normal limbs; moderate/severe intellectual disability; not walking; hypotonia (lower limb more affected), conductive hearing loss, fair skin, astigmatism" "" "" "" "" "" "" "" "" "" "" "" "0000308328" "05392" "00416608" "01164" "Isolated (sporadic)" "" "Ventricular septal defect, Hypotonia, Motor delay, Expressive language delay, Pes planus, Gait ataxia, Neurodevelopmental abnormality, Impaired social interactions, Sleep disturbance, Delayed speech and language development, Genu valgum, Short stature" "" "" "" "" "" "" "" "" "" "1y" "" "0000324078" "05392" "00433655" "03544" "Isolated (sporadic)" "" "developmental delay, soft cleft palate, ventricular septal defect" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 30 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000152866" "00152012" "1" "02261" "02261" "2018-02-01 12:54:22" "" "" "SEQ-NG" "DNA" "peripheral blood-derived DNA" "" "0000152867" "00152013" "1" "02261" "02261" "2018-02-01 13:15:05" "" "" "SEQ-NG" "DNA" "peripheral blood-derived DNA" "WES" "0000152868" "00152014" "1" "02261" "02261" "2018-02-01 13:28:00" "" "" "SEQ-NG" "RNA" "peripheral blood-derived DNA" "WES" "0000152869" "00152015" "1" "02261" "02261" "2018-02-01 13:34:43" "" "" "SEQ-NG" "DNA" "" "WES" "0000152980" "00152123" "1" "02261" "02261" "2018-02-02 11:32:46" "" "" "SEQ-NG" "RNA" "peripheral blood-derived DNA" "WES" "0000152981" "00152124" "1" "02261" "02261" "2018-02-02 11:41:31" "" "" "SEQ-NG" "RNA" "peripheral blood-derived DNA" "WES" "0000152982" "00152125" "1" "02261" "02261" "2018-02-02 11:48:06" "" "" "SEQ-NG" "RNA" "peripheral blood-derived DNA" "WES" "0000152983" "00152126" "1" "02261" "02261" "2018-02-02 11:59:06" "" "" "SEQ" "RNA" "peripheral blood-derived DNA" "" "0000152985" "00152128" "1" "02261" "02261" "2018-02-02 12:12:43" "" "" "SEQ-NG" "RNA" "peripheral blood-derived DNA" "WES" "0000209607" "00208559" "1" "03128" "03128" "2018-12-10 16:35:15" "" "" "SEQ-NG" "DNA" "blood" "" "0000304010" "00302884" "1" "00006" "00006" "2020-06-02 21:28:09" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000360773" "00359545" "1" "03580" "03580" "2021-03-24 12:02:01" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000378504" "00377302" "1" "00006" "00006" "2021-07-22 09:48:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000378505" "00377303" "1" "00006" "00006" "2021-07-22 10:00:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000378508" "00377305" "1" "00006" "00006" "2021-07-22 10:42:59" "" "" "arrayCGH" "DNA" "" "Agilent 60k" "0000378509" "00377306" "1" "00006" "00006" "2021-07-22 10:42:59" "" "" "arrayCGH" "DNA" "" "Signature Chip v2.0" "0000378510" "00377307" "1" "00006" "00006" "2021-07-22 10:42:59" "" "" "arrayCGH" "DNA" "" "Agilent 4x180k" "0000378511" "00377308" "1" "00006" "00006" "2021-07-22 10:42:59" "" "" "arraySNP" "DNA" "" "Affymetrix SNP 6.0" "0000378512" "00377309" "1" "00006" "00006" "2021-07-22 10:42:59" "" "" "arraySNP" "DNA" "" "Affymetrix CytoScan" "0000378513" "00377310" "1" "00006" "00006" "2021-07-22 10:42:59" "" "" "arrayCGH" "DNA" "" "Agilent 60k" "0000378514" "00377311" "1" "00006" "00006" "2021-07-22 10:42:59" "" "" "arrayCGH" "DNA" "" "OGT 8x60K v2.0" "0000378515" "00377312" "1" "00006" "00006" "2021-07-22 10:42:59" "" "" "arrayCGH" "DNA" "" "Agilent 60k" "0000378516" "00377313" "1" "00006" "00006" "2021-07-22 10:42:59" "" "" "arrayCGH" "DNA" "" "Nimblegen CGX-12" "0000378517" "00377314" "1" "00006" "00006" "2021-07-22 10:42:59" "" "" "arrayCGH" "DNA" "" "OGT 8 x 60k" "0000378518" "00377315" "1" "00006" "00006" "2021-07-22 10:42:59" "" "" "arrayCGH" "DNA" "" "Agilent 4x180k" "0000378519" "00377316" "1" "00006" "00006" "2021-07-22 10:42:59" "" "" "arrayCGH" "DNA" "" "Agilent 4x180k" "0000378520" "00377317" "1" "00006" "00006" "2021-07-22 10:42:59" "" "" "arrayCGH" "DNA" "" "Agilent 60k" "0000378521" "00377318" "1" "00006" "00006" "2021-07-22 10:42:59" "" "" "arrayCGH" "DNA" "" "Nimblegen CGX-12" "0000417890" "00416608" "1" "01164" "01164" "2022-09-06 11:07:24" "" "" "SEQ-NG-I" "DNA" "" "" "0000435113" "00433655" "1" "03544" "03544" "2023-03-12 18:41:16" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 27 "{{screeningid}}" "{{geneid}}" "0000152866" "MEIS2" "0000152867" "MEIS2" "0000152868" "MEIS2" "0000152869" "MEIS2" "0000152980" "MEIS2" "0000152981" "MEIS2" "0000152982" "MEIS2" "0000152983" "MEIS2" "0000152985" "MEIS2" "0000304010" "MEIS2" "0000378504" "MEIS2" "0000378505" "MEIS2" "0000378508" "MEIS2" "0000378509" "MEIS2" "0000378510" "MEIS2" "0000378511" "MEIS2" "0000378512" "MEIS2" "0000378513" "MEIS2" "0000378514" "MEIS2" "0000378515" "MEIS2" "0000378516" "MEIS2" "0000378517" "MEIS2" "0000378518" "MEIS2" "0000378519" "MEIS2" "0000378520" "MEIS2" "0000378521" "MEIS2" "0000417890" "MEIS2" ## 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 = 47 "{{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}}" "0000286506" "0" "90" "15" "37329086" "37329086" "subst" "0" "02326" "MEIS2_000001" "g.37329086G>A" "" "" "" "MEIS2(NM_170677.5):c.829C>T (p.Q277*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37036885G>A" "" "pathogenic" "" "0000351705" "0" "90" "15" "37188887" "37188887" "subst" "0" "02261" "MEIS2_000009" "g.37188887C>T" "" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "" "" "De novo" "" "" "0" "" "" "g.36896686C>T" "" "pathogenic" "" "0000351706" "0" "90" "15" "37385781" "37385781" "subst" "0" "02261" "MEIS2_000004" "g.37385781C>T" "" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "" "" "De novo" "" "" "0" "" "" "g.37093580C>T" "" "pathogenic" "" "0000351707" "0" "90" "15" "37376088" "37376088" "subst" "0" "02261" "MEIS2_000005" "g.37376088T>C" "" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "" "" "De novo" "" "" "0" "" "" "g.37083887T>C" "" "pathogenic" "" "0000351708" "0" "90" "15" "37329086" "37329086" "subst" "0" "02261" "MEIS2_000001" "g.37329086G>A" "" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "" "" "De novo" "" "" "0" "" "" "g.37036885G>A" "" "pathogenic" "" "0000351819" "0" "90" "15" "37329047" "37329047" "dup" "0" "02261" "MEIS2_000006" "g.37329047dup" "" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "868dupA" "" "De novo" "" "" "0" "" "" "g.37036846dup" "" "pathogenic" "" "0000351820" "0" "90" "15" "37188889" "37188889" "subst" "0" "02261" "MEIS2_000008" "g.37188889T>C" "" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "" "" "De novo" "" "" "0" "" "" "g.36896688T>C" "" "pathogenic" "" "0000351821" "0" "90" "15" "37388495" "37388495" "del" "0" "02261" "MEIS2_000003" "g.37388495del" "" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "383delA" "" "De novo" "" "" "0" "" "" "g.37096294del" "" "pathogenic" "" "0000351822" "0" "90" "15" "37242567" "37242570" "del" "0" "02261" "MEIS2_000007" "g.37242567_37242570del" "" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "" "" "De novo" "" "" "0" "" "" "g.36950366_36950369del" "" "pathogenic" "" "0000351823" "0" "70" "15" "37188867" "37188867" "subst" "0" "02261" "MEIS2_000010" "g.37188867C>T" "" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "" "" "De novo" "" "" "0" "" "" "g.36896666C>T" "" "likely pathogenic" "" "0000439771" "0" "70" "15" "37385901" "37385901" "subst" "0" "03128" "MEIS2_000011" "g.37385901G>A" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.37093700G>A" "" "likely pathogenic" "" "0000554105" "0" "50" "15" "37187376" "37187376" "subst" "0" "02325" "MEIS2_000012" "g.37187376G>T" "" "" "" "MEIS2(NM_170677.5):c.1123C>A (p.Q375K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36895175G>T" "" "VUS" "" "0000554106" "0" "70" "15" "37188863" "37188863" "subst" "0" "02327" "MEIS2_000013" "g.37188863T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36896662T>C" "" "likely pathogenic" "" "0000667401" "0" "90" "15" "37242547" "37242547" "subst" "0" "00006" "MEIS2_000017" "g.37242547T>C" "" "{PMID:Srivastava 2018:29322350}" "" "" "" "De novo" "" "" "0" "" "" "g.36950346T>C" "" "pathogenic (dominant)" "" "0000680150" "0" "70" "15" "37188835" "37188835" "subst" "0" "01804" "MEIS2_000018" "g.37188835G>A" "" "" "" "MEIS2(NM_170674.4):c.1030C>T (p.(Arg344Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000725052" "0" "70" "15" "37387796" "37387796" "dup" "0" "02329" "MEIS2_000016" "g.37387796dup" "" "" "" "MEIS2(NM_170677.5):c.412dupT (p.S138Ffs*33)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000725053" "0" "70" "15" "37387810" "37387810" "del" "0" "02329" "MEIS2_000019" "g.37387810del" "" "" "" "MEIS2(NM_170677.5):c.393delC (p.A132Pfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000760879" "11" "90" "15" "37390387" "37390388" "del" "0" "03580" "MEIS2_000020" "g.37390387_37390388del" "" "{PMID:Santoro 2021:33722742}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37098186_37098187del" "" "pathogenic (dominant)" "" "0000791293" "0" "70" "15" "37188865" "37188867" "del" "0" "00006" "MEIS2_000021" "g.37188865_37188867del" "" "{PMID:Louw 2015:25712757}" "" "NM_170674.3:c.998_1000del" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000791294" "0" "90" "15" "37385810" "37385810" "subst" "0" "00006" "MEIS2_000022" "g.37385810G>C" "" "{PMID:Fujita 2016:27225850}" "" "NM_170677.4:c.611C>G" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000791296" "0" "90" "15" "36989551" "37184183" "del" "0" "00006" "MEIS2_000024" "g.(?_36989551)_(37184183_?)del" "" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "" "194 kb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000791297" "0" "90" "15" "37196610" "38244056" "del" "0" "00006" "MEIS2_000024" "g.(?_37196610)_(38244056_?)del" "" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "" "1.05 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000791298" "0" "90" "15" "36606036" "37980027" "del" "0" "00006" "MEIS2_000023" "g.(?_36606036)_(37980027_?)del" "" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "" "1.37 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000791299" "0" "90" "15" "37310981" "38781772" "del" "0" "00006" "MEIS2_000024" "g.(?_37310981)_(38781772_?)del" "" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "" "1.47 Mb deletion" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000791300" "0" "90" "15" "37358935" "39695030" "del" "0" "00006" "MEIS2_000024" "g.(?_37358935)_(39695030_?)del" "" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "" "2.34 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000791301" "0" "90" "15" "37269953" "40018834" "del" "0" "00006" "MEIS2_000024" "g.(?_37269953)_(40018834_?)del" "" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "" "2.7 Mb deletion" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000791302" "0" "90" "15" "37231466" "40103247" "del" "0" "00006" "MEIS2_000024" "g.(?_37231466)_(40103247_?)del" "" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "" "2.87 Mb deletion" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000791303" "0" "90" "15" "34308789" "37231638" "del" "0" "00006" "MEIS2_000024" "g.(?_34308789)_(37231638_?)del" "" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "" "2.92 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000791304" "0" "90" "15" "34616375" "37401551" "del" "0" "00006" "MEIS2_000023" "g.(?_34616375)_(37401551_?)del" "" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "" "2.78 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000791305" "0" "90" "15" "34363958" "37792285" "del" "0" "00006" "MEIS2_000023" "g.(?_34363958)_(37792285_?)del" "" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "" "3.43 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000791306" "0" "90" "15" "36794841" "41016404" "del" "0" "00006" "MEIS2_000023" "g.(?_36794841)_(41016404_?)del" "" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "" "4.2 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000791307" "0" "90" "15" "33707609" "39190567" "del" "0" "00006" "MEIS2_000023" "g.(?_33707609)_(39190567_?)del" "" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "" "5.4 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000791308" "0" "90" "15" "32260104" "38338675" "del" "0" "00006" "MEIS2_000023" "g.(?_32260104)_(38338675_?)del" "" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "" "6.1 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000791309" "0" "90" "15" "34962033" "41938462" "del" "0" "00006" "MEIS2_000023" "g.(?_34962033)_(41938462_?)del" "" "{PMID:Verheije 2019:30291340}, {DOI:Verheije 2019:10.1038/s41431-018-0281-5}" "" "" "6.97 Mb deletion" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000806643" "0" "30" "15" "37385914" "37385914" "subst" "0.000332965" "01943" "MEIS2_000025" "g.37385914A>G" "" "" "" "MEIS2(NM_170675.5):c.507T>C (p.D169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853994" "0" "50" "15" "37390310" "37390310" "subst" "1.23579E-5" "02325" "MEIS2_000026" "g.37390310G>A" "" "" "" "MEIS2(NM_170674.5):c.103C>T (p.P35S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000877626" "0" "70" "15" "37188863" "37188866" "delins" "0" "01164" "MEIS2_000027" "g.37188863_37188866delinsATGG" "" "" "" "" "ACMG: PS2, PM5, PM2_SUP, PP2; confirmed de novo, p.Arg333del at same position described as recurrent de novo path variant" "De novo" "-" "" "" "" "" "g.36896662_36896665delinsATGG" "" "likely pathogenic (dominant)" "ACMG" "0000892008" "0" "30" "15" "37187370" "37187370" "subst" "4.48145E-5" "02325" "MEIS2_000028" "g.37187370T>G" "" "" "" "MEIS2(NM_001220482.1):c.1108A>C (p.(Met370Leu)), MEIS2(NM_170674.5):c.1108A>C (p.M370L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000921050" "0" "90" "15" "37188844" "37188844" "subst" "0" "03544" "MEIS2_000029" "g.37188844G>A" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic (dominant)" "" "0000981183" "0" "50" "15" "37184478" "37184478" "del" "0" "01804" "MEIS2_000030" "g.37184478del" "" "" "" "MEIS2(NM_170675.5):c.1334del (p.(Pro445Leufs*6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981184" "0" "30" "15" "37391809" "37391809" "dup" "0" "01804" "MEIS2_000031" "g.37391809dup" "" "" "" "MEIS2(NM_001220482.2):c.-133-4dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001332" "0" "30" "15" "37187370" "37187370" "subst" "4.48145E-5" "01804" "MEIS2_000028" "g.37187370T>G" "" "" "" "MEIS2(NM_001220482.1):c.1108A>C (p.(Met370Leu)), MEIS2(NM_170674.5):c.1108A>C (p.M370L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001333" "0" "30" "15" "37188837" "37188837" "subst" "0" "01804" "MEIS2_000032" "g.37188837T>C" "" "" "" "MEIS2(NM_170675.4):c.1028A>G (p.(Asn343Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001334" "0" "50" "15" "37242529" "37242529" "subst" "0" "01804" "MEIS2_000033" "g.37242529T>C" "" "" "" "MEIS2(NM_170675.4):c.973A>G (p.(Asn325Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001335" "0" "50" "15" "37390208" "37390208" "subst" "0" "01804" "MEIS2_000034" "g.37390208C>A" "" "" "" "MEIS2(NM_170675.4):c.205G>T (p.(Val69Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001336" "0" "30" "15" "37390352" "37390352" "subst" "1.6716E-5" "01804" "MEIS2_000035" "g.37390352C>T" "" "" "" "MEIS2(NM_001220482.1):c.61G>A (p.(Ala21Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040299" "0" "50" "15" "37184415" "37184415" "subst" "0" "01804" "MEIS2_000036" "g.37184415G>C" "" "" "" "MEIS2(NM_170675.5):c.1393C>G (p.(Pro465Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes MEIS2 ## Count = 47 "{{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}}" "0000286506" "00011998" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Gln277*)" "" "0000351705" "00011998" "90" "978" "0" "978" "0" "c.978G>A" "r.(?)" "p.(Trp326*)" "" "0000351706" "00011998" "90" "639" "1" "639" "1" "c.639+1G>A" "r.spl" "p.0?" "" "0000351707" "00011998" "90" "640" "-2" "640" "-2" "c.640-2A>G" "r.spl" "p.0?" "" "0000351708" "00011998" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Gln277*)" "" "0000351819" "00011998" "90" "868" "0" "868" "0" "c.868dup" "r.(?)" "p.(Ile290Asnfs*40)" "" "0000351820" "00011998" "90" "978" "-2" "978" "-2" "c.978-2A>G" "r.spl" "p.0?" "" "0000351821" "00011998" "90" "383" "0" "383" "0" "c.383del" "r.()" "p.(Lys128Serfs*19)" "" "0000351822" "00011998" "90" "934" "0" "937" "0" "c.934_937del" "r.(?)" "p.(Leu312Argfs*11)" "" "0000351823" "00011998" "70" "998" "0" "998" "0" "c.998G>A" "r.(?)" "p.(Arg333Lys)" "" "0000439771" "00011998" "70" "520" "0" "520" "0" "c.520C>T" "r.(?)" "p.(Arg174*)" "6" "0000554105" "00011998" "50" "1123" "0" "1123" "0" "c.1123C>A" "r.(?)" "p.(Gln375Lys)" "" "0000554106" "00011998" "70" "1002" "0" "1002" "0" "c.1002A>G" "r.(?)" "p.(Ile334Met)" "" "0000667401" "00011998" "90" "955" "0" "955" "0" "c.955A>G" "r.(?)" "p.(Thr319Ala)" "" "0000680150" "00011998" "70" "1030" "0" "1030" "0" "c.1030C>T" "r.(?)" "p.(Arg344*)" "" "0000725052" "00011998" "70" "412" "0" "412" "0" "c.412dup" "r.(?)" "p.(Ser138Phefs*33)" "" "0000725053" "00011998" "70" "393" "0" "393" "0" "c.393del" "r.(?)" "p.(Ala132Profs*15)" "" "0000760879" "00011998" "90" "27" "0" "28" "0" "c.27_28del" "r.(?)" "p.(His10Leufs*84)" "" "0000791293" "00011998" "70" "998" "0" "1000" "0" "c.998_1000del" "r.(?)" "p.(Arg333del)" "" "0000791294" "00011998" "90" "611" "0" "611" "0" "c.611C>G" "r.(?)" "p.(Ser204*)" "" "0000791296" "00011998" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000791297" "00011998" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000791298" "00011998" "90" "" "0" "" "0" "c.-1074_*1475{0}" "r.0?" "p.0?" "" "0000791299" "00011998" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000791300" "00011998" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000791301" "00011998" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000791302" "00011998" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000791303" "00011998" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000791304" "00011998" "90" "" "0" "" "0" "c.-1074_*1475{0}" "r.0?" "p.0?" "" "0000791305" "00011998" "90" "" "0" "" "0" "c.-1074_*1475{0}" "r.0?" "p.0?" "" "0000791306" "00011998" "90" "" "0" "" "0" "c.-1074_*1475{0}" "r.0?" "p.0?" "" "0000791307" "00011998" "90" "" "0" "" "0" "c.-1074_*1475{0}" "r.0?" "p.0?" "" "0000791308" "00011998" "90" "" "0" "" "0" "c.-1074_*1475{0}" "r.0?" "p.0?" "" "0000791309" "00011998" "90" "" "0" "" "0" "c.-1074_*1475{0}" "r.0?" "p.0?" "" "0000806643" "00011998" "30" "507" "0" "507" "0" "c.507T>C" "r.(?)" "p.(=)" "" "0000853994" "00011998" "50" "103" "0" "103" "0" "c.103C>T" "r.(?)" "p.(Pro35Ser)" "" "0000877626" "00011998" "70" "999" "0" "1002" "0" "c.999_1002delinsCCAT" "r.(?)" "p.(Arg333_Ile334delinsSerHis)" "" "0000892008" "00011998" "30" "1129" "0" "1129" "0" "c.1129A>C" "r.(?)" "p.(Met377Leu)" "" "0000921050" "00011998" "90" "1021" "0" "1021" "0" "c.1021C>T" "r.(?)" "p.(Gln341*)" "" "0000981183" "00011998" "50" "1430" "0" "1430" "0" "c.*224del" "r.(?)" "p.(=)" "" "0000981184" "00011998" "30" "-137" "0" "-137" "0" "c.-137dup" "r.(?)" "p.(=)" "" "0001001332" "00011998" "30" "1129" "0" "1129" "0" "c.1129A>C" "r.(?)" "p.(Met377Leu)" "" "0001001333" "00011998" "30" "1028" "0" "1028" "0" "c.1028A>G" "r.(?)" "p.(Asn343Ser)" "" "0001001334" "00011998" "50" "973" "0" "973" "0" "c.973A>G" "r.(?)" "p.(Asn325Asp)" "" "0001001335" "00011998" "50" "205" "0" "205" "0" "c.205G>T" "r.(?)" "p.(Val69Phe)" "" "0001001336" "00011998" "30" "61" "0" "61" "0" "c.61G>A" "r.(?)" "p.(Ala21Thr)" "" "0001040299" "00011998" "50" "1489" "0" "1489" "0" "c.*283C>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 30 "{{screeningid}}" "{{variantid}}" "0000152866" "0000351705" "0000152867" "0000351706" "0000152868" "0000351707" "0000152869" "0000351708" "0000152980" "0000351819" "0000152981" "0000351820" "0000152982" "0000351821" "0000152983" "0000351822" "0000152985" "0000351823" "0000209607" "0000439771" "0000304010" "0000667401" "0000360773" "0000760879" "0000378504" "0000791293" "0000378505" "0000791294" "0000378508" "0000791296" "0000378509" "0000791297" "0000378510" "0000791298" "0000378511" "0000791299" "0000378512" "0000791300" "0000378513" "0000791301" "0000378514" "0000791302" "0000378515" "0000791303" "0000378516" "0000791304" "0000378517" "0000791305" "0000378518" "0000791306" "0000378519" "0000791307" "0000378520" "0000791308" "0000378521" "0000791309" "0000417890" "0000877626" "0000435113" "0000921050"