### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TNRC6B) # 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}}" "TNRC6B" "trinucleotide repeat containing 6B" "22" "q13" "unknown" "NC_000022.10" "UD_136022209464" "" "https://www.LOVD.nl/TNRC6B" "" "1" "29190" "23112" "610740" "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/TNRC6B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-01-24 19:45:34" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00025492" "TNRC6B" "transcript variant 1" "004" "NM_001162501.1" "" "NP_001155973.1" "" "" "" "-211" "18069" "5502" "40573929" "40731812" "00006" "2020-01-24 17:54:56" "" "" ## 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}}" "02412" "SPCH" "speech-language disorder (SPCH)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-02-14 16:20:22" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00275875" "" "" "" "1" "" "00006" "{PMID:Eising 2018:29463886}" "analysis 19 individuals with childhood apraxia of speech" "F" "" "" "" "0" "" "" "" "Pat15" "00311383" "" "" "" "1" "" "00006" "{PMID:Granadillo 2020:32152250}" "" "M" "" "" "" "0" "" "" "white" "Pat1" "00311384" "" "" "" "1" "" "00006" "{PMID:Granadillo 2020:32152250}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "China" "" "0" "" "" "" "Pat2" "00311385" "" "" "" "1" "" "00006" "{PMID:Granadillo 2020:32152250}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "China" "" "0" "" "" "" "Pat3" "00311386" "" "" "" "1" "" "00006" "{PMID:Granadillo 2020:32152250}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "white" "Pat4" "00311387" "" "" "" "2" "" "00006" "{PMID:Granadillo 2020:32152250}" "2-generation family, affected father/son" "M" "" "" "" "0" "" "" "white" "Pat5" "00311388" "" "" "" "2" "" "00006" "{PMID:Granadillo 2020:32152250}" "2-generation family, affected mother/son" "M" "" "" "" "0" "" "" "" "Pat6" "00311389" "" "" "" "1" "" "00006" "{PMID:Granadillo 2020:32152250}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "white" "Pat7" "00311390" "" "" "" "1" "" "00006" "{PMID:Granadillo 2020:32152250}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "white" "Pat8" "00311391" "" "" "" "1" "" "00006" "{PMID:Granadillo 2020:32152250}" "" "M" "" "" "" "0" "" "" "white" "Pat9" "00311392" "" "" "" "1" "" "00006" "{PMID:Granadillo 2020:32152250}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "white" "Pat10" "00311393" "" "" "" "1" "" "00006" "{PMID:Granadillo 2020:32152250}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "white" "Pat11" "00311394" "" "" "" "1" "" "00006" "{PMID:Granadillo 2020:32152250}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "China" "" "0" "" "" "Han chinese" "Pat12" "00311395" "" "" "" "2" "" "00006" "{PMID:Granadillo 2020:32152250}" "2-generation family, affected mother/son" "M" "" "" "" "0" "" "" "white;Hispanic" "Pat13" "00311396" "" "" "" "1" "" "00006" "{PMID:Granadillo 2020:32152250}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "Brazil/African" "Pat14" "00311397" "" "" "" "1" "" "00006" "{PMID:Granadillo 2020:32152250}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "Europe-West" "Pat15" "00311398" "" "" "" "1" "" "00006" "{PMID:Granadillo 2020:32152250}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "white" "Pat16" "00311399" "" "" "" "1" "" "00006" "{PMID:Granadillo 2020:32152250}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "white" "Pat17" "00466067" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00275875" "02412" "00311383" "05611" "00311384" "05611" "00311385" "05611" "00311386" "05611" "00311387" "05611" "00311388" "05611" "00311389" "05611" "00311390" "05611" "00311391" "05611" "00311392" "05611" "00311393" "05611" "00311394" "05611" "00311395" "05611" "00311396" "05611" "00311397" "05611" "00311398" "05611" "00311399" "05611" "00466067" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02412, 05611 ## Count = 19 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000210475" "02412" "00275875" "00006" "Unknown" "4y" "childhood apraxia of speech; late onset language use; no listening comprehension scales standard scores <85; IQ average; oral expression scales standard scores not <85; gross or fine motor impairment; oral nonverbal motor impairment; no dysarthria" "" "" "" "" "" "" "" "" "childhood apraxia of speech" "0000236630" "05611" "00311383" "00006" "Isolated (sporadic)" "6y" "birth weight normal, length normal; normal height, normal weight, OFC 2.05; developmental delay/intellectual disability; gross motor delay, fine motor delay; speech delay, 2y-first words; poor socialization, attention deficit hyperactivity disorder; hypotonia; no sleep problems; no hearing loss; abnormal eye convergence, saccadic eye movements, congenital entropion; no musculoskeletal anomalies; normal skin; normal face, frontal bossing, normal eyes, normal ears, normal nose, thin upper lip; no gastrointestinal problems; MRI brain Chiari Type 1 malformation, flattening of anterior pituitary; ECG patent foramen ovale, dilated aortic root (z-score=2.4); EKG RV conduction delay; mother is “low functioning”, father has intellectual disability" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000236631" "05611" "00311384" "00006" "Isolated (sporadic)" "6y" "birth weight normal, length normal; normal height, normal weight, OFC -1.58; developmental delay/intellectual disability; no gross motor delay, no fine motor delay; speech delay; autism, attention deficit hyperactivity disorder; no hypotonia; no sleep problems; no hearing loss; normal vision; no musculoskeletal anomalies; triangular face, normal forehead, normal eyes, normal ears, normal nose, micrognathia; no gastrointestinal problems; no family history" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000236632" "05611" "00311385" "00006" "Isolated (sporadic)" "3y9m" "birth weight normal; normal height, normal weight, OFC -1.3; developmental delay/intellectual disability; no gross motor delay, no fine motor delay; speech delay; autism, attention deficit hyperactivity disorder; no hypotonia; short sleeping time, restless sleep; no hearing loss; normal vision; no musculoskeletal anomalies; normal face, normal forehead, normal eyes, normal ears, normal nose, normal mouth; no gastrointestinal problems; MRI brain right temporal arachnoid cyst; no family history" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000236633" "05611" "00311386" "00006" "Isolated (sporadic)" "11y" "birth weight normal; height >2 SD, normal weight, OFC 1.76; developmental delay/intellectual disability, IQ73, DQ76, non verbal-95; gross motor delay, fine motor delay, walk-12m; speech delay, 1y-first words; autistic features, attention deficit hyperactivity disorder, anxiety, ddepression, behavioral difficulties; hypotonia; daytime sleepiness, poor sleep; bilateral high-frequency sensorineural hearing loss; strabismus, esotropia; slender fingers, lanky buildpiuh, hypermobility elbows; skin lichen sclerosus; slightly narrow and long face, normal forehead, normal eyes, normal ears, normal nose, microretrognathia; no gastrointestinal problems; MRI brain Chiari Type 1 malformation; ECG normal; renal ultrasound normal; chronic otitis media, obstructive sleep apnea (s/p T&A); intermittent staring spells (normal EEG); no family history" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000236634" "05611" "00311387" "00006" "Familial, autosomal dominant" "6y" "birth weight 2.44 Kg (5th %ile), length normal, OFC 30 cm (<2.5th%ile); normal height, normal weight, OFC -4.26; developmental delay/intellectual disability, 4y10m-developmental age 20m; gross motor delay, fine motor delay, walk-36m; speech delay; autistic features, no attention deficit hyperactivity disorder, aggressiveness; hypotonia; no sleep problems; bilateral sensorineural hearing loss reverse cookie bitepattern; intermittent esotropia; no musculoskeletal anomalies; triangular face, prominent and broad forehead, prominent glabella, upswept frontal hairline, downslanting palpebral fissures, arched eyebrows, bilateral epicanthal folds, small ears, posteriorly rotated ears, low set ears, anteverted nares with broad and rounded tip, broad and high nasal bridge, micrognathia, thin upper lip, narrow palate with torus; GERD, aspiration, GT placed, constipation, dysphagia; MRI brain normal; ECG atrial septal defect, PDA, polyvalvular dysplasia, hypoplastic abdominal aorta, abnormal origin R coronary artery; renal ultrasound small L nephrolithiasis, mild R pelvicaliectasis; inguinal hernia, hydrocele, sacral dimple, torticollis; both parent have intellectual disability, father has similar facial features" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000236635" "05611" "00311388" "00006" "Familial, autosomal dominant" "15y" "birth weight normal, length normal; normal height, normal weight, OFC 2.7; developmental delay/intellectual disability, IQ97; gross motor delay, fine motor delay; speech delay; autism, attention deficit hyperactivity disorder, oppositional defiant disorder; hypotonia; sleep problems; no hearing loss; normal vision; small joint hypermobility; strawberry hemangioma on right knee (now resolved); mild facial asymmetry, normal forehead, slightly downslanting palpebral fissures, normal ears, normal nose, normal mouth; no gastrointestinal problems; MRI brain normal; ECG normal; mother, maternal aunt and maternal grandmother have short stature, ophthalmoplegia, diabetes, sensorineural hearing loss, learning problems, mother has seizures, maternal aternal uncle with hydrocephalus, sister with ID and hypotonia, paternal half-sister with ADHD" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000236636" "05611" "00311389" "00006" "Isolated (sporadic)" "12y" "birth weight normal, length normal, OFC normal; normal height, normal weight, OFC 0; developmental delay/intellectual disability, VIQ105, PIQ85; gross motor delay, fine motor delay, walk-24m; speech delay, 3y-first words; autism, attention deficit hyperactivity disorder; hypotonia; sleep problems; no hearing loss; myopia; joint hypermobility; normal skin; midface flattening, normal forehead, normal eyes, protruding ears, anteverted nares, mild micrognathia, long philtrum, thin upper lip, high palate; no gastrointestinal problems; MRI brain normal; benign nocturnal alternating hemiplegia of childhood; parents healthy, grandmother has migraine headaches" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000236637" "05611" "00311390" "00006" "Isolated (sporadic)" "12y" "birth weight normal, length normal, OFC normal; normal height, normal weight, OFC -1; developmental delay/intellectual disability, TIQ63 (VIQ70, PIQ61); gross motor delay, fine motor delay, walk-16m; speech delay, 1y-first words; autistic features, attention deficit hyperactivity disorder; no hypotonia; no sleep problems; no hearing loss; normal vision; Sprengel anomaly; normal skin; normal face, normal forehead, deep set eyes, normal ears, normal nose, normal mouth; no gastrointestinal problems; MRI brain normal; ECG normal; SCAD deficiency" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000236638" "05611" "00311391" "00006" "Isolated (sporadic)" "17y" "birth weight 2.45 Kg (<3rd %ile), length normal; normal height, normal weight, OFC 1.63; developmental delay/intellectual disability, TIQ 73 (VIQ82; PIQ 68); gross motor delay, fine motor delay, walk-30m; speech delay, 2y9m-first words; autism, no attention deficit hyperactivity disorder; hypotonia; no sleep problems; no hearing loss; myopia; recurrent patella subluxation billaterally; normal skin; normal face, normal forehead, downslanting palpebral fissures, low set ears, anteverted nares, mildly low insertion columella, normal mouth; no gastrointestinal problems; MRI brain normal; left supernumerary nipple" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000236639" "05611" "00311392" "00006" "Isolated (sporadic)" "13y" "birth weight normal; normal height, normal weight, OFC -2.33; developmental delay/intellectual disability, IQ72 (VIQ78, PIQ 71); gross motor delay, fine motor delay, walk-18m; no speech delay; autism, no attention deficit hyperactivity disorder; hypotonia; no sleep problems; no hearing loss; myopia; pes planus; hypergimentary lesions on wrist and upper leg; normal face, normal forehead, normal eyes, “Floppy” ears, normal nose, thin upper lip; no gastrointestinal problems; left supernumerary nipple; recurrent ear infections; paternal female cousin with Noonan syndrome" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000236640" "05611" "00311393" "00006" "Isolated (sporadic)" "13y" "birth weight normal, length normal; normal height, normal weight, OFC 0.8; developmental delay/intellectual disability, TIQ 55; gross motor delay, fine motor delay, walk-18m; speech delay, 4y-first words in sentences; no autism, no attention deficit hyperactivity disorder, Impulsivity; no hypotonia; no sleep problems; no hearing loss; normal vision; muscle weakness; normal skin; midface flattening, normal forehead, downslanting palpebral fissures, normal ears, normal nose, thin upper lip; no gastrointestinal problems; MRI brain left temporal arachnoid cyst, hypoplasia of left temporal horn, mild frontal atrophy, left ventricle larger than right ventricle; ECG normal; renal ultrasound normal; hypereflexia" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000236641" "05611" "00311394" "00006" "Isolated (sporadic)" "2y8m" "birth weight normal; normal height, OFC -1.33; developmental delay/intellectual disability, DQ 53; gross motor delay, fine motor delay, n/a; speech delay; autism, no attention deficit hyperactivity disorder; no hypotonia; no sleep problems; no hearing loss; normal vision; no musculoskeletal anomalies; normal skin; normal face, normal forehead, normal eyes, normal ears, normal nose, normal mouth; no gastrointestinal problems; MRI brain normal; myoclonus epilepsy under control with valproate, levetiracetam" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000236642" "05611" "00311395" "00006" "Familial, autosomal dominant" "14y" "birth weight normal, length normal; normal height, weight >2SD, OFC 1.35; developmental delay/intellectual disability, WISC: VCI 79, PRI 71, PSI 73; no gross motor delay, fine motor delay, walk-11m; speech delay, 5y-first words; autism, attention deficit hyperactivity disorder; hypotonia; sleep problems latency; no hearing loss; normal vision; broad palms, repair of tibial malformation; normal face, normal forehead, normal eyes, normal ears, normal nose, normal mouth; no gastrointestinal problems; MRI brain normal; ECG normal; renal ultrasound normal; cryptorchidism; mother has learning disability, attention deficit hyperactivity disorder, type 2 diabetes mellitus, scoliosis, migraine; father has social differences, compulsions, anxiety" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000236643" "05611" "00311396" "00006" "Isolated (sporadic)" "10y" "birth weight 2.5 Kg (<3rd %ile), length 45 cm (<3rd %ile); normal height, normal weight, OFC 0; developmental delay/intellectual disability, IQ80; no gross motor delay, no fine motor delay, walk-13m; speech delay, 1y-first words; no autism, attention deficit hyperactivity disorder; no hypotonia; no sleep problems; no hearing loss; strabismus; clinodactyly; triangular face, normal forehead, normal eyes, low-set, protruding and posteriorly rotated ears, normal nose, normal mouth; constipation (early infancy); MRI brain normal; ECG normal; imperforate anus, vestibular fistula; central precocious puberty; no family history" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000236644" "05611" "00311397" "00006" "Isolated (sporadic)" "11y" "birth weight 2.5 Kg (<3rd %ile), length 45 cm (<3rd %ile), OFC normal; normal height, normal weight, OFC -0.26; developmental delay/intellectual disability, IQ50; gross motor delay, fine motor delay, walk-16m; speech delay; no autism, attention deficit hyperactivity disorder, anger with tremor; no hypotonia; no sleep problems; no hearing loss; normal vision; joint hypermobility; round face, normal forehead, normal eyes, normal ears, anteverted nares, normal mouth; no gastrointestinal problems; bilateral inguinal hernia; no family history" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000236645" "05611" "00311398" "00006" "Isolated (sporadic)" "8y" "birth weight normal; normal height, normal weight, OFC 1.37; developmental delay/intellectual disability, WASI-2 - FS IQ 113, verbal comprehension 131; gross motor delay, fine motor delay, walk-12m; speech delay, 2y-first words; no autism, attention deficit hyperactivity disorder, Impulsivity; hypotonia; no sleep problems; conductive no hearing loss; bilateral astigmatism, wears glasses; pes planus, scoliosis, muscle atrophy in legs; normal skin; normal face, tall forehead, deep set eyes, protruding ears with overfolded helix, bulbous nasal tip, low columella, normal mouth; constipation; renal ultrasound normal; recurrent ear infections T&A; no family history" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000236646" "05611" "00311399" "00006" "Isolated (sporadic)" "16y" "birth weight normal, length normal, OFC normal; normal height, weight -2SD, OFC -2.1; developmental delay/intellectual disability; no gross motor delay, fine motor delay, walk-15m; speech delay, 2y-3y-first words; autistic features, no attention deficit hyperactivity disorder; hypotonia; no sleep problems; no hearing loss; normal vision; joint pain (hands and feet), long slender fingers, Marfanoid features; normal skin; narrow face, normal forehead, deep set eyes, protruding ears, normal nose, microretrognathia; swallowing difficulties; MRI brain normal; ECG wide aortic root (z-score=2.6); no family history" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000351453" "05611" "00466067" "03544" "Isolated (sporadic)" "" "HP:0001263, HP:0000271, HP:0006889" "" "" "" "" "" "" "" "GDSBA" "complex NDD" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000277029" "00275875" "1" "00006" "00006" "2020-01-19 13:09:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000312553" "00311383" "1" "00006" "00006" "2020-09-24 16:15:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000312554" "00311384" "1" "00006" "00006" "2020-09-24 16:15:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000312555" "00311385" "1" "00006" "00006" "2020-09-24 16:15:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000312556" "00311386" "1" "00006" "00006" "2020-09-24 16:15:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000312557" "00311387" "1" "00006" "00006" "2020-09-24 16:15:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000312558" "00311388" "1" "00006" "00006" "2020-09-24 16:15:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000312559" "00311389" "1" "00006" "00006" "2020-09-24 16:15:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000312560" "00311390" "1" "00006" "00006" "2020-09-24 16:15:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000312561" "00311391" "1" "00006" "00006" "2020-09-24 16:15:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000312562" "00311392" "1" "00006" "00006" "2020-09-24 16:15:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000312563" "00311393" "1" "00006" "00006" "2020-09-24 16:15:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000312564" "00311394" "1" "00006" "00006" "2020-09-24 16:15:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000312565" "00311395" "1" "00006" "00006" "2020-09-24 16:15:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000312566" "00311396" "1" "00006" "00006" "2020-09-24 16:15:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000312567" "00311397" "1" "00006" "00006" "2020-09-24 16:15:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000312568" "00311398" "1" "00006" "00006" "2020-09-24 16:15:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000312569" "00311399" "1" "00006" "00006" "2020-09-24 16:15:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467722" "00466067" "1" "03544" "03544" "2025-07-24 10:28:42" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{geneid}}" "0000312553" "TNRC6B" "0000312554" "TNRC6B" "0000312555" "TNRC6B" "0000312556" "TNRC6B" "0000312557" "TNRC6B" "0000312558" "TNRC6B" "0000312559" "TNRC6B" "0000312560" "TNRC6B" "0000312561" "TNRC6B" "0000312562" "TNRC6B" "0000312563" "TNRC6B" "0000312564" "TNRC6B" "0000312565" "TNRC6B" "0000312566" "TNRC6B" "0000312567" "TNRC6B" "0000312568" "TNRC6B" "0000312569" "TNRC6B" ## 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 = 77 "{{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}}" "0000344539" "0" "90" "22" "40697184" "40697184" "subst" "0" "02327" "TNRC6B_000001" "g.40697184C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40301180C>T" "" "pathogenic" "" "0000572090" "0" "50" "22" "40662273" "40662273" "subst" "0" "02327" "TNRC6B_000002" "g.40662273G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40266269G>A" "" "VUS" "" "0000572091" "0" "50" "22" "40674053" "40674053" "subst" "0" "02327" "TNRC6B_000003" "g.40674053G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40278049G>C" "" "VUS" "" "0000631981" "0" "90" "22" "40662274" "40662274" "subst" "0" "00006" "TNRC6B_000005" "g.40662274G>A" "" "{PMID:Eising 2018:29463886}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.40266270G>A" "" "pathogenic" "" "0000694147" "0" "90" "22" "40662875" "40662876" "del" "0" "00006" "TNRC6B_000013" "g.40662875_40662876del" "" "{PMID:Granadillo 2020:32152250}" "" "2641_2642delCA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.40266871_40266872del" "" "pathogenic (dominant)" "" "0000694148" "0" "90" "22" "40662113" "40662113" "subst" "0" "00006" "TNRC6B_000011" "g.40662113C>T" "" "{PMID:Granadillo 2020:32152250}" "" "" "" "De novo" "" "" "0" "" "" "g.40266109C>T" "" "pathogenic (dominant)" "" "0000694149" "0" "90" "22" "40711480" "40711480" "del" "0" "00006" "TNRC6B_000008" "g.40711480del" "" "{PMID:Granadillo 2020:32152250}" "" "" "also carrier balanced translocation 46,XX,t(2;4)(p23;q35)" "De novo" "" "" "0" "" "" "g.40315476del" "" "pathogenic (dominant)" "" "0000694150" "0" "90" "22" "40661167" "40661167" "subst" "0" "00006" "TNRC6B_000010" "g.40661167G>A" "" "{PMID:Granadillo 2020:32152250}" "" "" "" "De novo" "" "" "0" "" "" "g.40265163G>A" "" "pathogenic (dominant)" "" "0000694151" "11" "90" "22" "40697181" "40697181" "subst" "0" "00006" "TNRC6B_000018" "g.40697181C>T" "" "{PMID:Granadillo 2020:32152250}" "" "" "" "Germline" "" "" "0" "" "" "g.40301177C>T" "" "pathogenic (dominant)" "" "0000694152" "21" "90" "22" "40663042" "40663042" "subst" "0" "00006" "TNRC6B_000014" "g.40663042T>C" "" "{PMID:Granadillo 2020:32152250}" "" "" "" "Germline" "" "" "0" "" "" "g.40267038T>C" "" "pathogenic (dominant)" "" "0000694153" "0" "90" "22" "40697184" "40697184" "subst" "0" "00006" "TNRC6B_000001" "g.40697184C>T" "" "{PMID:Granadillo 2020:32152250}" "" "" "" "De novo" "" "" "0" "" "" "g.40301180C>T" "" "pathogenic (dominant)" "" "0000694154" "0" "90" "22" "40673087" "40673090" "del" "0" "00006" "TNRC6B_000015" "g.40673087_40673090del" "" "{PMID:Granadillo 2020:32152250}" "" "" "" "De novo" "" "" "0" "" "" "g.40277083_40277086del" "" "pathogenic (dominant)" "" "0000694155" "0" "90" "22" "40676079" "40676079" "subst" "4.06253E-6" "00006" "TNRC6B_000016" "g.40676079C>T" "" "{PMID:Granadillo 2020:32152250}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.40280075C>T" "" "pathogenic (dominant)" "" "0000694156" "0" "90" "22" "40674053" "40674053" "subst" "0" "00006" "TNRC6B_000003" "g.40674053G>C" "" "{PMID:Granadillo 2020:32152250}" "" "" "" "De novo" "" "" "0" "" "" "g.40278049G>C" "" "pathogenic (dominant)" "" "0000694157" "0" "90" "22" "40662273" "40662273" "subst" "0" "00006" "TNRC6B_000002" "g.40662273G>A" "" "{PMID:Granadillo 2020:32152250}" "" "" "" "De novo" "" "" "0" "" "" "g.40266269G>A" "" "pathogenic (dominant)" "" "0000694158" "0" "70" "22" "40697287" "40697287" "subst" "0" "00006" "TNRC6B_000019" "g.40697287T>A" "" "{PMID:Granadillo 2020:32152250}" "" "" "" "De novo" "" "" "0" "" "" "g.40301283T>A" "" "likely pathogenic (dominant)" "" "0000694159" "21" "90" "22" "0" "0" "" "0" "00006" "TNRC6B_000006" "g.(4057414540642018)_(40697338_40704515)del" "" "{PMID:Granadillo 2020:32152250}" "" "del ex2-15" "g.(4057414540642018)_(40697338_40704515)del" "Germline" "" "" "0" "" "Arr[GRCh37] 22q13.1 (40642018_4 0697338)x1" "" "" "pathogenic (dominant)" "" "0000694160" "0" "90" "22" "40662223" "40662224" "del" "0" "00006" "TNRC6B_000012" "g.40662223_40662224del" "" "{PMID:Granadillo 2020:32152250}" "" "1989_1990delAG" "" "De novo" "" "" "0" "" "" "g.40266219_40266220del" "" "pathogenic (dominant)" "" "0000694161" "0" "90" "22" "40621331" "40687562" "del" "0" "00006" "TNRC6B_000007" "g.(40574145_40621331)_(40687562_40696458)del" "" "{PMID:Granadillo 2020:32152250}" "" "del ex2-12" "father not available" "Germline/De novo (untested)" "" "" "0" "" "22q13del (40,621,331-40,687,562 hg19)" "" "" "pathogenic (dominant)" "" "0000694162" "0" "90" "22" "40697160" "40697160" "subst" "0" "00006" "TNRC6B_000017" "g.40697160C>T" "" "{PMID:Granadillo 2020:32152250}" "" "" "father not available" "Germline/De novo (untested)" "" "" "0" "" "" "g.40301156C>T" "" "pathogenic (dominant)" "" "0000694163" "0" "90" "22" "40661064" "40661070" "del" "0" "00006" "TNRC6B_000009" "g.40661064_40661070del" "" "{PMID:Granadillo 2020:32152250}" "" "" "" "De novo" "" "" "0" "" "" "g.40265060_40265066del" "" "pathogenic (dominant)" "" "0000728174" "0" "50" "22" "40662255" "40662255" "subst" "5.51963E-5" "01943" "TNRC6B_000020" "g.40662255A>G" "" "" "" "TNRC6B(NM_001162501.2):c.2021A>G (p.N674S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856175" "0" "90" "22" "40662531" "40662531" "del" "0" "02327" "TNRC6B_000021" "g.40662531del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000856176" "0" "90" "22" "40676079" "40676079" "subst" "4.06253E-6" "02327" "TNRC6B_000016" "g.40676079C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000866859" "0" "70" "22" "40704591" "40704591" "subst" "0" "02327" "TNRC6B_000022" "g.40704591G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000895750" "0" "70" "22" "40574141" "40574141" "subst" "0" "02327" "TNRC6B_000023" "g.40574141T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000895751" "0" "50" "22" "40661332" "40661332" "subst" "4.0621E-6" "02325" "TNRC6B_000024" "g.40661332A>C" "" "" "" "TNRC6B(NM_001162501.2):c.1098A>C (p.Q366H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895752" "0" "50" "22" "40661940" "40661940" "subst" "0" "02325" "TNRC6B_000025" "g.40661940T>C" "" "" "" "TNRC6B(NM_001162501.2):c.1706T>C (p.V569A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895753" "0" "50" "22" "40662557" "40662557" "subst" "0" "02329" "TNRC6B_000026" "g.40662557G>T" "" "" "" "TNRC6B(NM_001162501.2):c.2323G>T (p.G775*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895754" "0" "30" "22" "40662984" "40662984" "subst" "0.00322701" "02325" "TNRC6B_000027" "g.40662984G>C" "" "" "" "TNRC6B(NM_001162501.2):c.2750G>C (p.G917A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895755" "0" "50" "22" "40676094" "40676094" "subst" "0" "02329" "TNRC6B_000028" "g.40676094C>T" "" "" "" "TNRC6B(NM_001162501.2):c.3358C>T (p.P1120S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895756" "0" "50" "22" "40704547" "40704547" "subst" "4.06124E-6" "02329" "TNRC6B_000029" "g.40704547G>A" "" "" "" "TNRC6B(NM_001162501.2):c.4152G>A (p.M1384I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915553" "0" "30" "22" "40660887" "40660887" "subst" "6.5001E-5" "02325" "TNRC6B_000030" "g.40660887A>G" "" "" "" "TNRC6B(NM_001162501.1):c.653A>G (p.(Asn218Ser)), TNRC6B(NM_001162501.2):c.653A>G (p.N218S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915554" "0" "30" "22" "40661105" "40661105" "subst" "0.00059298" "02325" "TNRC6B_000031" "g.40661105G>A" "" "" "" "TNRC6B(NM_001162501.2):c.871G>A (p.D291N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915555" "0" "50" "22" "40711406" "40711406" "subst" "4.06177E-6" "02327" "TNRC6B_000032" "g.40711406C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927180" "0" "70" "22" "40662830" "40662830" "dup" "0" "02326" "TNRC6B_000033" "g.40662830dup" "" "" "" "TNRC6B(NM_001162501.2):c.2596dupA (p.T866Nfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000951613" "0" "50" "22" "40681743" "40681743" "subst" "1.62547E-5" "02325" "TNRC6B_000034" "g.40681743C>T" "" "" "" "TNRC6B(NM_001162501.2):c.3677C>T (p.A1226V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970498" "0" "50" "22" "40706847" "40706847" "subst" "0" "02325" "TNRC6B_000035" "g.40706847C>T" "" "" "" "TNRC6B(NM_001162501.2):c.4285C>T (p.R1429W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970499" "0" "70" "22" "40706868" "40706868" "subst" "0" "02327" "TNRC6B_000036" "g.40706868C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000984248" "0" "30" "22" "40661502" "40661502" "subst" "0.000284393" "01804" "TNRC6B_000037" "g.40661502G>T" "" "" "" "TNRC6B(NM_001162501.2):c.1268G>T (p.(Gly423Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984249" "0" "30" "22" "40696456" "40696456" "subst" "0" "01804" "TNRC6B_000038" "g.40696456T>C" "" "" "" "TNRC6B(NM_001162501.2):c.3709-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984250" "0" "30" "22" "40708569" "40708569" "subst" "1.62491E-5" "01804" "TNRC6B_000039" "g.40708569A>G" "" "" "" "TNRC6B(NM_001162501.2):c.4496A>G (p.(Tyr1499Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984251" "0" "30" "22" "40708901" "40708901" "subst" "0" "01804" "TNRC6B_000040" "g.40708901C>T" "" "" "" "TNRC6B(NM_001162501.2):c.4583-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006085" "0" "30" "22" "40552122" "40552122" "subst" "0" "01804" "TNRC6B_000041" "g.40552122G>A" "" "" "" "TNRC6B(NM_001024843.1):c.49G>A (p.(Glu17Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006086" "0" "50" "22" "40574142" "40574142" "subst" "8.13888E-6" "01804" "TNRC6B_000042" "g.40574142G>A" "" "" "" "TNRC6B(NM_001162501.1):c.3G>A (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006087" "0" "50" "22" "40660806" "40660806" "subst" "5.27945E-5" "01804" "TNRC6B_000043" "g.40660806T>C" "" "" "" "TNRC6B(NM_001162501.1):c.572T>C (p.(Ile191Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006088" "0" "30" "22" "40660851" "40660851" "subst" "4.06138E-6" "01804" "TNRC6B_000044" "g.40660851A>G" "" "" "" "TNRC6B(NM_001162501.1):c.617A>G (p.(Lys206Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006089" "0" "30" "22" "40660887" "40660887" "subst" "6.5001E-5" "01804" "TNRC6B_000030" "g.40660887A>G" "" "" "" "TNRC6B(NM_001162501.1):c.653A>G (p.(Asn218Ser)), TNRC6B(NM_001162501.2):c.653A>G (p.N218S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006090" "0" "50" "22" "40660934" "40660934" "subst" "0" "01804" "TNRC6B_000045" "g.40660934A>G" "" "" "" "TNRC6B(NM_001162501.1):c.700A>G (p.(Ser234Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006091" "0" "30" "22" "40661073" "40661073" "subst" "2.43694E-5" "01804" "TNRC6B_000046" "g.40661073G>A" "" "" "" "TNRC6B(NM_001162501.1):c.839G>A (p.(Gly280Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006092" "0" "50" "22" "40661196" "40661196" "subst" "1.21859E-5" "01804" "TNRC6B_000047" "g.40661196G>A" "" "" "" "TNRC6B(NM_001162501.1):c.962G>A (p.(Arg321Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006093" "0" "30" "22" "40661337" "40661337" "subst" "4.46831E-5" "01804" "TNRC6B_000048" "g.40661337A>G" "" "" "" "TNRC6B(NM_001162501.1):c.1103A>G (p.(His368Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006094" "0" "30" "22" "40662390" "40662390" "subst" "8.14783E-6" "01804" "TNRC6B_000049" "g.40662390C>T" "" "" "" "TNRC6B(NM_001162501.1):c.2156C>T (p.(Pro719Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006095" "0" "50" "22" "40662503" "40662503" "subst" "8.14001E-6" "01804" "TNRC6B_000050" "g.40662503A>G" "" "" "" "TNRC6B(NM_001162501.1):c.2269A>G (p.(Lys757Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006096" "0" "30" "22" "40662881" "40662881" "subst" "3.24968E-5" "01804" "TNRC6B_000051" "g.40662881A>G" "" "" "" "TNRC6B(NM_001162501.1):c.2647A>G (p.(Ile883Val)), TNRC6B(NM_001162501.2):c.2647A>G (p.I883V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006097" "0" "50" "22" "40662939" "40662939" "subst" "0" "01804" "TNRC6B_000052" "g.40662939A>G" "" "" "" "TNRC6B(NM_001162501.1):c.2705A>G (p.(Tyr902Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006098" "0" "50" "22" "40666160" "40666160" "subst" "9.69133E-6" "01804" "TNRC6B_000053" "g.40666160T>G" "" "" "" "TNRC6B(NM_001162501.1):c.2841T>G (p.(Asn947Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006099" "0" "50" "22" "40666170" "40666170" "subst" "0" "01804" "TNRC6B_000054" "g.40666170G>A" "" "" "" "TNRC6B(NM_001162501.1):c.2851G>A (p.(Ala951Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006100" "0" "50" "22" "40666236" "40666236" "subst" "0" "01804" "TNRC6B_000055" "g.40666236A>G" "" "" "" "TNRC6B(NM_001162501.1):c.2917A>G (p.(Thr973Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006101" "0" "50" "22" "40666282" "40666282" "subst" "5.32122E-5" "01804" "TNRC6B_000056" "g.40666282C>T" "" "" "" "TNRC6B(NM_001162501.1):c.2963C>T (p.(Pro988Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006102" "0" "30" "22" "40681651" "40681651" "subst" "0" "02325" "TNRC6B_000057" "g.40681651C>T" "" "" "" "TNRC6B(NM_001162501.2):c.3585C>T (p.G1195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006103" "0" "50" "22" "40697199" "40697201" "dup" "0" "02325" "TNRC6B_000058" "g.40697199_40697201dup" "" "" "" "TNRC6B(NM_001162501.2):c.3982_3984dupCAG (p.Q1328dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006104" "0" "70" "22" "40706939" "40706939" "del" "0" "01804" "TNRC6B_000059" "g.40706939del" "" "" "" "TNRC6B(NM_001162501.1):c.4377delC (p.(Lys1460fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001006105" "0" "30" "22" "40718997" "40718997" "subst" "0" "01804" "TNRC6B_000060" "g.40718997G>A" "" "" "" "TNRC6B(NM_001162501.1):c.5254G>A (p.(Gly1752Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006106" "0" "50" "22" "40719097" "40719097" "subst" "0" "01804" "TNRC6B_000061" "g.40719097C>T" "" "" "" "TNRC6B(NM_001162501.1):c.5354C>T (p.(Ala1785Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015950" "0" "30" "22" "40657876" "40657876" "subst" "2.49014E-5" "02325" "TNRC6B_000062" "g.40657876C>T" "" "" "" "TNRC6B(NM_001162501.2):c.156C>T (p.A52=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015951" "0" "50" "22" "40658045" "40658045" "subst" "0" "02325" "TNRC6B_000063" "g.40658045C>G" "" "" "" "TNRC6B(NM_001162501.2):c.325C>G (p.Q109E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015952" "0" "50" "22" "40662881" "40662881" "subst" "3.24968E-5" "02325" "TNRC6B_000051" "g.40662881A>G" "" "" "" "TNRC6B(NM_001162501.1):c.2647A>G (p.(Ile883Val)), TNRC6B(NM_001162501.2):c.2647A>G (p.I883V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027410" "0" "30" "22" "40662324" "40662324" "subst" "3.6038E-5" "02325" "TNRC6B_000064" "g.40662324G>T" "" "" "" "TNRC6B(NM_001162501.2):c.2090G>T (p.G697V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043877" "0" "50" "22" "40521871" "40521871" "subst" "8.24144E-6" "01804" "TNRC6B_000065" "g.40521871G>T" "" "" "" "TNRC6B(NM_001024843.2):c.45+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043878" "0" "30" "22" "40696452" "40696452" "dup" "0" "01804" "TNRC6B_000066" "g.40696452dup" "" "" "" "TNRC6B(NM_001162501.2):c.3709-7dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047009" "0" "50" "22" "40661755" "40661756" "del" "0" "03544" "TNRC6B_000067" "g.40661755_40661756del" "" "{PMID:Granadillo 2020:32152250}" "" "" "inherited from mother (apparently unaffected); possible incomplete penetrance and reduced expressivity discussed in the literature" "Germline" "-" "" "0" "" "" "g.40265751_40265752del" "" "likely pathogenic (!)" "ACMG" "0001057164" "0" "50" "22" "40516358" "40516358" "subst" "0" "01804" "TNRC6B_000068" "g.40516358C>T" "" "" "" "TNRC6B(NM_001024843.2):c.-47+3226C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057165" "0" "50" "22" "40626605" "40626605" "subst" "0" "01804" "TNRC6B_000069" "g.40626605C>T" "" "" "" "TNRC6B(NM_001162501.2):c.6-15414C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057166" "0" "70" "22" "40662817" "40662818" "del" "0" "01804" "TNRC6B_000070" "g.40662817_40662818del" "" "" "" "TNRC6B(NM_001162501.2):c.2583_2584del (p.(Pro862Thrfs*6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001057167" "0" "30" "22" "40706811" "40706811" "subst" "2.57515E-5" "01804" "TNRC6B_000071" "g.40706811C>T" "" "" "" "TNRC6B(NM_001162501.2):c.4259-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001057168" "0" "50" "22" "40719339" "40719339" "subst" "0" "01804" "TNRC6B_000072" "g.40719339T>C" "" "" "" "TNRC6B(NM_001162501.2):c.*94T>C" "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 TNRC6B ## Count = 77 "{{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}}" "0000344539" "00025492" "90" "3967" "0" "3967" "0" "c.3967C>T" "r.(?)" "p.(Gln1323Ter)" "" "0000572090" "00025492" "50" "2039" "0" "2039" "0" "c.2039G>A" "r.(?)" "p.(Trp680Ter)" "" "0000572091" "00025492" "50" "3262" "5" "3262" "5" "c.3262+5G>C" "r.spl?" "p.?" "" "0000631981" "00025492" "90" "2040" "0" "2040" "0" "c.2040G>A" "r.(?)" "p.(Trp680*)" "" "0000694147" "00025492" "90" "2641" "0" "2642" "0" "c.2641_2642del" "r.(?)" "p.(Gln881Valfs*3)" "5" "0000694148" "00025492" "90" "1879" "0" "1879" "0" "c.1879C>T" "r.(?)" "p.(Gln627*)" "5" "0000694149" "00025492" "90" "4872" "0" "4872" "0" "c.4872del" "r.(?)" "p.(Trp1625Glyfs*40)" "20" "0000694150" "00025492" "90" "933" "0" "933" "0" "c.933G>A" "r.(?)" "p.(Trp311*)" "5" "0000694151" "00025492" "90" "3964" "0" "3964" "0" "c.3964C>T" "r.(?)" "p.(Gln1322*)" "15" "0000694152" "00025492" "90" "2806" "2" "2806" "2" "c.2806+2T>C" "r.spl" "p.?" "5i" "0000694153" "00025492" "90" "3967" "0" "3967" "0" "c.3967C>T" "r.(?)" "p.(Gln1323*)" "15" "0000694154" "00025492" "90" "3148" "0" "3151" "0" "c.3148_3151del" "r.(?)" "p.(Leu1050Lysfs*9)" "8" "0000694155" "00025492" "90" "3343" "0" "3343" "0" "c.3343C>T" "r.(?)" "p.(Arg1115*)" "10" "0000694156" "00025492" "90" "3262" "5" "3262" "5" "c.3262+5G>C" "r.spl?" "p.?" "9i" "0000694157" "00025492" "90" "2039" "0" "2039" "0" "c.2039G>A" "r.(?)" "p.(Trp680*)" "5" "0000694158" "00025492" "70" "4070" "0" "4070" "0" "c.4070T>A" "r.(?)" "p.(Val1357Glu)" "15" "0000694159" "00025492" "90" "6" "-1" "4120" "1" "c.(5+1_6-1)_(4120+1_4121-1)del" "r.?" "p.?" "1i_15i" "0000694160" "00025492" "90" "1989" "0" "1990" "0" "c.1989_1990del" "r.(?)" "p.(Gly665Leufs*35)" "5" "0000694161" "00025492" "90" "6" "-20688" "3708" "5788" "c.(5+1_6-20688)_(3708+5788_3709-1)del" "r.?" "p.?" "1i_12i" "0000694162" "00025492" "90" "3943" "0" "3943" "0" "c.3943C>T" "r.(?)" "p.(Arg1315*)" "15" "0000694163" "00025492" "90" "830" "0" "836" "0" "c.830_836del" "r.(?)" "p.(Asn277Metfs*3)" "5" "0000728174" "00025492" "50" "2021" "0" "2021" "0" "c.2021A>G" "r.(?)" "p.(Asn674Ser)" "" "0000856175" "00025492" "90" "2297" "0" "2297" "0" "c.2297del" "r.(?)" "p.(Ser766Ilefs*26)" "" "0000856176" "00025492" "90" "3343" "0" "3343" "0" "c.3343C>T" "r.(?)" "p.(Arg1115*)" "" "0000866859" "00025492" "70" "4196" "0" "4196" "0" "c.4196G>A" "r.(?)" "p.(Trp1399*)" "" "0000895750" "00025492" "70" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000895751" "00025492" "50" "1098" "0" "1098" "0" "c.1098A>C" "r.(?)" "p.(Gln366His)" "" "0000895752" "00025492" "50" "1706" "0" "1706" "0" "c.1706T>C" "r.(?)" "p.(Val569Ala)" "" "0000895753" "00025492" "50" "2323" "0" "2323" "0" "c.2323G>T" "r.(?)" "p.(Gly775*)" "" "0000895754" "00025492" "30" "2750" "0" "2750" "0" "c.2750G>C" "r.(?)" "p.(Gly917Ala)" "" "0000895755" "00025492" "50" "3358" "0" "3358" "0" "c.3358C>T" "r.(?)" "p.(Pro1120Ser)" "" "0000895756" "00025492" "50" "4152" "0" "4152" "0" "c.4152G>A" "r.(?)" "p.(Met1384Ile)" "" "0000915553" "00025492" "30" "653" "0" "653" "0" "c.653A>G" "r.(?)" "p.(Asn218Ser)" "" "0000915554" "00025492" "30" "871" "0" "871" "0" "c.871G>A" "r.(?)" "p.(Asp291Asn)" "" "0000915555" "00025492" "50" "4798" "0" "4798" "0" "c.4798C>T" "r.(?)" "p.(Arg1600Cys)" "" "0000927180" "00025492" "70" "2596" "0" "2596" "0" "c.2596dup" "r.(?)" "p.(Thr866Asnfs*3)" "" "0000951613" "00025492" "50" "3677" "0" "3677" "0" "c.3677C>T" "r.(?)" "p.(Ala1226Val)" "" "0000970498" "00025492" "50" "4285" "0" "4285" "0" "c.4285C>T" "r.(?)" "p.(Arg1429Trp)" "" "0000970499" "00025492" "70" "4306" "0" "4306" "0" "c.4306C>T" "r.(?)" "p.(Gln1436*)" "" "0000984248" "00025492" "30" "1268" "0" "1268" "0" "c.1268G>T" "r.(?)" "p.(Gly423Val)" "" "0000984249" "00025492" "30" "3709" "-3" "3709" "-3" "c.3709-3T>C" "r.spl?" "p.?" "" "0000984250" "00025492" "30" "4496" "0" "4496" "0" "c.4496A>G" "r.(?)" "p.(Tyr1499Cys)" "" "0000984251" "00025492" "30" "4583" "-5" "4583" "-5" "c.4583-5C>T" "r.spl?" "p.?" "" "0001006085" "00025492" "30" "-22018" "0" "-22018" "0" "c.-22018G>A" "r.(?)" "p.(=)" "" "0001006086" "00025492" "50" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.?" "" "0001006087" "00025492" "50" "572" "0" "572" "0" "c.572T>C" "r.(?)" "p.(Ile191Thr)" "" "0001006088" "00025492" "30" "617" "0" "617" "0" "c.617A>G" "r.(?)" "p.(Lys206Arg)" "" "0001006089" "00025492" "30" "653" "0" "653" "0" "c.653A>G" "r.(?)" "p.(Asn218Ser)" "" "0001006090" "00025492" "50" "700" "0" "700" "0" "c.700A>G" "r.(?)" "p.(Ser234Gly)" "" "0001006091" "00025492" "30" "839" "0" "839" "0" "c.839G>A" "r.(?)" "p.(Gly280Glu)" "" "0001006092" "00025492" "50" "962" "0" "962" "0" "c.962G>A" "r.(?)" "p.(Arg321Lys)" "" "0001006093" "00025492" "30" "1103" "0" "1103" "0" "c.1103A>G" "r.(?)" "p.(His368Arg)" "" "0001006094" "00025492" "30" "2156" "0" "2156" "0" "c.2156C>T" "r.(?)" "p.(Pro719Leu)" "" "0001006095" "00025492" "50" "2269" "0" "2269" "0" "c.2269A>G" "r.(?)" "p.(Lys757Glu)" "" "0001006096" "00025492" "30" "2647" "0" "2647" "0" "c.2647A>G" "r.(?)" "p.(Ile883Val)" "" "0001006097" "00025492" "50" "2705" "0" "2705" "0" "c.2705A>G" "r.(?)" "p.(Tyr902Cys)" "" "0001006098" "00025492" "50" "2841" "0" "2841" "0" "c.2841T>G" "r.(?)" "p.(Asn947Lys)" "" "0001006099" "00025492" "50" "2851" "0" "2851" "0" "c.2851G>A" "r.(?)" "p.(Ala951Thr)" "" "0001006100" "00025492" "50" "2917" "0" "2917" "0" "c.2917A>G" "r.(?)" "p.(Thr973Ala)" "" "0001006101" "00025492" "50" "2963" "0" "2963" "0" "c.2963C>T" "r.(?)" "p.(Pro988Leu)" "" "0001006102" "00025492" "30" "3585" "0" "3585" "0" "c.3585C>T" "r.(?)" "p.(=)" "" "0001006103" "00025492" "50" "3982" "0" "3984" "0" "c.3982_3984dup" "r.(?)" "p.(Gln1328dup)" "" "0001006104" "00025492" "70" "4377" "0" "4377" "0" "c.4377del" "r.(?)" "p.(Lys1460Asnfs*56)" "" "0001006105" "00025492" "30" "5254" "0" "5254" "0" "c.5254G>A" "r.(?)" "p.(Gly1752Ser)" "" "0001006106" "00025492" "50" "5354" "0" "5354" "0" "c.5354C>T" "r.(?)" "p.(Ala1785Val)" "" "0001015950" "00025492" "30" "156" "0" "156" "0" "c.156C>T" "r.(?)" "p.(=)" "" "0001015951" "00025492" "50" "325" "0" "325" "0" "c.325C>G" "r.(?)" "p.(Gln109Glu)" "" "0001015952" "00025492" "50" "2647" "0" "2647" "0" "c.2647A>G" "r.(?)" "p.(Ile883Val)" "" "0001027410" "00025492" "30" "2090" "0" "2090" "0" "c.2090G>T" "r.(?)" "p.(Gly697Val)" "" "0001043877" "00025492" "50" "-52269" "0" "-52269" "0" "c.-52269G>T" "r.(?)" "p.(=)" "" "0001043878" "00025492" "30" "3709" "-7" "3709" "-7" "c.3709-7dup" "r.(=)" "p.(=)" "" "0001047009" "00025492" "50" "1521" "0" "1522" "0" "c.1521_1522del" "r.(?)" "p.(Gln508Glyfs*10)" "5" "0001057164" "00025492" "50" "-57782" "0" "-57782" "0" "c.-57782C>T" "r.(?)" "p.(=)" "" "0001057165" "00025492" "50" "6" "-15414" "6" "-15414" "c.6-15414C>T" "r.(=)" "p.(=)" "" "0001057166" "00025492" "70" "2583" "0" "2584" "0" "c.2583_2584del" "r.(?)" "p.(Pro862Thrfs*6)" "" "0001057167" "00025492" "30" "4259" "-10" "4259" "-10" "c.4259-10C>T" "r.(=)" "p.(=)" "" "0001057168" "00025492" "50" "5596" "0" "5596" "0" "c.*94T>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000277029" "0000631981" "0000312553" "0000694147" "0000312554" "0000694148" "0000312555" "0000694149" "0000312556" "0000694150" "0000312557" "0000694151" "0000312558" "0000694152" "0000312559" "0000694153" "0000312560" "0000694154" "0000312561" "0000694155" "0000312562" "0000694156" "0000312563" "0000694157" "0000312564" "0000694158" "0000312565" "0000694159" "0000312566" "0000694160" "0000312567" "0000694161" "0000312568" "0000694162" "0000312569" "0000694163" "0000467722" "0001047009"