### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AFF4) # 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}}" "AFF4" "AF4/FMR2 family, member 4" "5" "q31" "unknown" "NG_030340.1" "UD_132368916393" "" "https://www.LOVD.nl/AFF4" "" "1" "17869" "27125" "604417" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/AFF4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-07-22 20:41:23" "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}}" "00002201" "AFF4" "AF4/FMR2 family, member 4" "001" "NM_014423.3" "" "NP_055238.1" "" "" "" "-408" "9172" "3492" "132299354" "132211071" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04348" "CHOPS" "CHOPS syndrome" "AD" "616368" "" "arched eyebrows, synophrys, long eyelashes, and upturned nasal tip in younger patients and coarsening face in older children; global developmental delay (HP:0001263); intellectual disability (HP:0001249); no seizure (-HP:0001250); no hypotonia (-HP:0001252); short stature (HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); heart anomalies (patent ductus arteriosus and ventricular septal defect), pulmonary and respiratory tract involvement, and skeletal dysplasia with abnormal vertebral shape" "" "00000" "2015-09-23 10:25:22" "00006" "2023-01-03 20:39:08" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "AFF4" "04348" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00050575" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00248372" "" "" "" "1" "" "00006" "{PMID:Raible 2019:31058441}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "patient 1" "00248373" "" "" "" "1" "" "00006" "{PMID:Raible 2019:31058441}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "patient 2" "00248375" "" "" "" "1" "" "00006" "{PMID:Raible 2019:31058441}" "" "F" "" "" "" "0" "" "" "" "patient 4" "00248376" "" "" "" "1" "" "00006" "{PMID:Raible 2019:31058441}" "" "M" "" "" "" "0" "" "" "" "patient 5" "00248377" "" "" "" "1" "" "00006" "{PMID:Raible 2019:31058441}" "" "F" "" "" "" "0" "" "" "" "patient 6" "00248378" "" "" "" "1" "" "00006" "{PMID:Raible 2019:31058441}" "" "F" "" "" "" "0" "" "" "" "patient 7" "00248379" "" "" "" "1" "" "00006" "{PMID:Raible 2019:31058441}" "" "M" "" "" "" "0" "" "" "" "patient 8" "00248380" "" "" "" "1" "" "00006" "{PMID:Raible 2019:31058441}" "" "M" "" "" "" "0" "" "" "" "patient 9" "00248381" "" "" "" "1" "" "00006" "{PMID:Raible 2019:31058441}" "" "F" "" "" "" "0" "" "" "" "patient 10" "00248382" "" "" "" "1" "" "00006" "{PMID:Raible 2019:31058441}" "" "M" "" "" "" "0" "" "" "" "patient 11" "00293745" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00050575" "00198" "00248372" "05611" "00248373" "05611" "00248375" "05611" "00248376" "05611" "00248377" "05611" "00248378" "05611" "00248379" "05611" "00248380" "05611" "00248381" "05611" "00248382" "05611" "00293745" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04348, 05611 ## Count = 12 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037187" "00198" "00050575" "00006" "Isolated (sporadic)" "" "intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "0000187366" "05611" "00248372" "00006" "Isolated (sporadic)" "" "round face, hair appears thick and coarse, eyes showed long eyelashes and thick eyebrows, synophyrys; developmental delay; low lying conus with lipoma of the filum terminale; Hyperreflexia; no hearing loss; no cataract; chronic lung disease (due to recurrent aspiration?); no tracheostomy; Sleep apnea; Asthma, history of pneumonia; PDA with repair; pulmonary hypertension; Delayed gastric emptying; constipation; no gastrostomy tube; splenomegaly by abd MRI; reflux; Horseshoe kidney; brachydactyly; Abnormal shape of vertebral bodies with decreased height most pronounced from T8 to L1. ; no microcephaly; 14y-OFC 25th percentile, weight <3rd percentile, height <3rd percentile; obesity; short stature; no immunodeficiency" "" "" "" "" "" "" "" "" "CHOPS" "Cornelia de Lange syndrome" "" "0000187367" "05611" "00248373" "00006" "Isolated (sporadic)" "" "proptotic appearance to eyes, eyebrows were thick with arch and synophrys, hypertelorism, thickened helices, short nose with upturn, long philtrum, thickened tongue, high narrow palate ; developmental delay; hearing loss; no cataract; Myopia and mild optic atrophy; Subglottic stenosis (grade 2-3) and tracheomalcia, laryngomalasia; chronic lung disease; tracheostomy; Aspiration pneumonia; VSD, PDA with repair, anomalous pulmonary vein; g astrostomy tube Nissen G-tube; reflux; cryptorchidism; bilateral ureteral reflux ; brachydactyly; Congenital fusion of vertebrae C2-C3 and a history of congenital hip subluxation bilaterally. ; hypoplastic changes of L1 and L2 with anterior beaking; no microcephaly; 8y-head circumference 3rd-10th percentile, weight <3rd percentile, height <3rd percentile; obesity; short stature; history of fungal sepsis" "" "" "" "" "" "" "" "" "CHOPS" "Cornelia de Lange syndrome" "" "0000187369" "05611" "00248375" "00006" "Isolated (sporadic)" "11y" "see paper; …, Synophrys, upturned nose, long eyelashes, microcephaly, plagiocephaly; birth weight 2,182 g (−2.27 SD), height 43 cm (−3.6 SD), head circumference 32 cm (−1.6 SD); latest weight 41.7 cm (+1.5 SD), height 120 cm (−3.5 SD), head circumferance 50 cm (−2 SD) ; VSD, PDA; Chronic respiratory issues when young‐resolved; No hearing loss; Brachydactyly, short stature treated with growth hormone treatment; no genitourinary reported; no GI reported; Hypothyroidism" "" "" "" "" "" "" "" "" "CHOPS" "developmental delay" "" "0000187370" "05611" "00248376" "00006" "Isolated (sporadic)" "23y" "see paper; …, Synophrys, upturned nose, downslanting palpebral fissures, prominent vertical forehead crease, large anterior fontanelle, thick cranial vault with prominent Wormian bones along the lambdoid suture, microbrachycephaly; birth weight 3,430 g (−0.18 SD), height 48 cm (−0.75 SD), head circumference 34.5 cm (0 SD); latest weight 84.8 kg (+0.98 SD), height 142.7 cm (−4.6 SD), head circumferance 58 cm (+2 SD) ; None reported; Noisy breather and snores but not significant apnea; Mild sensorineural hearing loss; Brachydactyly, joint hypermobility (Beighton score 6/9), mild truncal hypotonia, osteopenic bones, immature ovoid appearance to the vertebral bodies of the thoracic and lumbar spine, narrowing of the T11/12 intervertebral disc space, mild shortening of the proximal humeri and metacarpals, hypoplasia of the distal phalanges of the toes, pes planus, limited extension of the right elbow, small hands and feet; Horseshoe kidney, mild coronal hypospadias (repaired), small genitalia; no GI reported; Strabismus, bilateral ptosis, gynecomastia, acanthosis nigricans, hirsutism" "" "" "" "" "" "" "" "" "CHOPS" "developmental delay" "" "0000187371" "05611" "00248377" "00006" "Isolated (sporadic)" "09y" "see paper; …, Mild Synophrys with prominent eyebrows, prominent eyelashes, bilateral proptosis, facial hirsutism, upturned nose, bitemporal narrowing, microcephaly, cupped ears with simple helices, high arched palate, and clubbing of nails, hands and feet; birth weight 1,474 (−3.34 SD), height 38 cm (−6.17 SD); latest weight 20.9 kg (−2 SD), height 93.8 cm (−5.9 SD), head circumferance 47 cm (−4.1 SD) ; VSD, congenital dilated aortic root, pulmonary hypertension; Subglottic stenosis, chronic lung disease and respiratory failure, tracheostomy, idiopathic pulmonary hemosiderosis, diffuse pulmonary alveolar hemorrhage, acute interstitial pneumonia; Bilateral sensorineural hearing loss; Absent left thumb (not congenital); Single kidney, sexual precocity; Nissen‐G tube, constipation, GERD; Astigmatism, otorrhea, optic nerve hypoplasia of left eye, intermittent exotropia, ptosis, chronic bilateral otitis media, hyperglycemia, polycythemia, steroid‐induced diabetes mellitus, iatrogenic adrenal insufficiency, prematurity" "" "" "" "" "" "" "" "" "CHOPS" "developmental delay" "" "0000187372" "05611" "00248378" "00006" "Isolated (sporadic)" "02y" "see paper; …, Synophrys, trace proptosis, small upturned nose with shallow bridge, prominent cheeks, macroglossia, micrognathia, bitemporal narrowing, and microcephaly; birth weight 2,239 g (−2.18 SD), height 43 cm (−2.98 SD), head circumference 29.5 cm (−3.7SD); latest weight 10.82 kg (−1.1 SD), height 73 cm (−4.1 SD), head circumferance 43.5 cm (−2.8 SD) ; PDA, PFO, dilated aortic root; History of pneumonia, chronic lung disease, chronic congestion and noisy breathing, acute chronic respiratory failure, subglottic narrowing of trachea; Mild conductive hearing loss; Disharmonic skeletal maturation of the hands; no genitourinary reported; G tube, dysphagia; Obstruction of nasolacrimal duct, chronic bilateral otitis media, sacral mass (removed), jaundice" "" "" "" "" "" "" "" "" "CHOPS" "developmental delay" "" "0000187373" "05611" "00248379" "00006" "Isolated (sporadic)" "07y" "see paper; …, Synophrys, coarse appearance to features; birth weight 2,070 g (−1.5 SD), height 43 cm (−1.9 SD), head circumference 29 cm (−3.23 SD); latest weight 10th centile, height 90 cm (−6.1SD), head circumferance 3rd centile; None reported; History of aspirations; Mixed hearing loss; Brachydactyly; no genitourinary reported; no GI reported; Mild myopia with strabismus, skin changes (sun exposed erythema and mottling of his skin)" "" "" "" "" "" "" "" "" "CHOPS" "developmental delay" "" "0000187374" "05611" "00248380" "00006" "Isolated (sporadic)" "06y" "see paper; …, Round face, brachiocephaly, microcephaly, long eyelashes, high arch eyebrows/curved, broad ICD, ears cupped and somewhat simplified; birth weight 1,170 g (−3.13 SD); latest weight 17.3 kg (−1.5 SD), height 88 cm (−5.7 SD), head circumferance 48 cm (−2.6 SD) ; PDA, PFO; Chronic lung disease due to apnea and aspirations, tracheostomy; Bilateral sensorineural hearing loss (improved); None reported; no genitourinary reported; G tube; Cataract, myopia, amblyopia, exophoria, growth hormone deficiency" "" "" "" "" "" "" "" "" "CHOPS" "developmental delay" "" "0000187375" "05611" "00248381" "00006" "Isolated (sporadic)" "07y" "see paper; …, Round face, synophrys, downturn corners of the mouth, curly hair, long eyelashes and thick eyebrows; birth weight 2,570 g (−1.1 SD), height 50 cm (+0.8 SD), head circumference 33 cm (+0.1 SD); latest weight 16 kg (−2.1 SD), height 98.5 cm (−4.7SD), head circumferance 47.6 cm (−1.9 SD) ; VSD; None reported; Bilateral conductive hearing loss; Brachydactyly; no genitourinary reported; G tube; Cataract, low lying conus with lipoma of the filum terminale" "" "" "" "" "" "" "" "" "CHOPS" "developmental delay" "" "0000187376" "05611" "00248382" "00006" "Isolated (sporadic)" "01y" "see paper; …, Round face, arched eyebrows, long philtrum, thin upper lip, low‐set posteriorly rotated ears; birth weight 1,560 g (−4.6SD, height 39 cm (−5.8 SD), head circumference 29 cm (−4.3 SD); latest weight 8.6 kg (−1.1 SD), height 66 cm (−4.1 SD), head circumferance 42 cm (−3.2 SD); None reported; Episodes of pneumonia and upper respiratory infection; Mixed bilateral hearing loss; Brachydactyly; small hands and feet, left fifth finger clinodactyly, single crease on left fifth finger, abnormal shape of vertebral bones, short iliac bones, small left femoral head; Short prepuce; History of constipation" "" "" "" "" "" "" "" "" "CHOPS" "developmental delay" "" "0000187377" "05611" "00248372" "00006" "Isolated (sporadic)" "20y" "see paper; ..., Synophrys, upturned nose, long philtrum, thick arched eyebrows, long eyelashes, large anterior fontanelle, microcephaly, microbrachycephaly, Wormian bones on her skull; birth weight 2,381 g (−1.94 SD), head circumference 31.1 cm (−2.3 SD); latest weight 32.9 kg (−3.7 SD), height 118.1 cm (−6.9 SD), head circumferance 53 cm (25th centile) 14y; PDA, chronic right‐sided heart failure, pulmonary hypertension; Chronic lung disease of uncertain etiology (status post ARDS) and low oxygen saturations, sleep apnea, asthma, history of aspiration and pneumonia; No hearing loss; Brachydactyly, small hands with proximally placed thumbs, abnormal shape of vertebral bodies with decreased height most pronounced from T8 to L1; Horseshoe kidney with repeated episodes of acute kidney injury, chronic kidney disease, diuretic‐associated metabolic alkalosis and hypokalemia; Vomiting and dehydration with delayed gastric emptying, constipation, Candida esophagitis, GERD; Coarse hair" "" "" "" "" "" "" "" "" "CHOPS" "Cornelia de Lange syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050520" "00050575" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000249477" "00248372" "1" "00006" "00006" "2019-07-22 21:05:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000249478" "00248373" "1" "00006" "00006" "2019-07-22 21:05:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000249480" "00248375" "1" "00006" "00006" "2019-07-22 21:27:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000249481" "00248376" "1" "00006" "00006" "2019-07-22 21:27:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000249482" "00248377" "1" "00006" "00006" "2019-07-22 21:27:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000249483" "00248378" "1" "00006" "00006" "2019-07-22 21:27:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000249484" "00248379" "1" "00006" "00006" "2019-07-22 21:27:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000249485" "00248380" "1" "00006" "00006" "2019-07-22 21:27:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000249486" "00248381" "1" "00006" "00006" "2019-07-22 21:27:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000249487" "00248382" "1" "00006" "00006" "2019-07-22 21:27:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000294913" "00293745" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000249477" "AFF4" "0000249478" "AFF4" "0000249480" "AFF4" "0000249481" "AFF4" "0000249482" "AFF4" "0000249483" "AFF4" "0000249484" "AFF4" "0000249485" "AFF4" "0000249486" "AFF4" "0000249487" "AFF4" ## 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 = 51 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000079500" "0" "90" "5" "123828524" "145717285" "dup" "0" "00006" "SIL1_000024" "g.123828524_145717285dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.38 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000345329" "0" "30" "5" "132269900" "132269900" "subst" "8.12592E-6" "02327" "AFF4_000001" "g.132269900T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132934208T>A" "" "likely benign" "" "0000524182" "0" "50" "5" "132232731" "132232731" "subst" "0" "01804" "AFF4_000002" "g.132232731G>A" "" "" "" "AFF4(NM_014423.3):c.1591C>T (p.(Arg531Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132897039G>A" "" "VUS" "" "0000524185" "0" "50" "5" "132269950" "132269950" "subst" "0" "02327" "AFF4_000005" "g.132269950C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132934258C>A" "" "VUS" "" "0000524186" "0" "90" "5" "132269985" "132269985" "subst" "0" "01804" "AFF4_000006" "g.132269985G>A" "" "" "" "AFF4(NM_014423.3):c.772C>T (p.(Arg258Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132934293G>A" "" "pathogenic" "" "0000578261" "0" "90" "5" "132269996" "132269996" "subst" "0" "00006" "AFF4_000008" "g.132269996G>C" "" "{PMID:Raible 2019:31058441}" "" "" "" "De novo" "" "" "0" "" "" "g.132934304G>C" "" "pathogenic (dominant)" "" "0000578262" "0" "90" "5" "132269997" "132269997" "subst" "0" "00006" "AFF4_000007" "g.132269997T>C" "" "{PMID:Raible 2019:31058441}" "" "" "" "De novo" "" "" "0" "" "" "g.132934305T>C" "" "pathogenic (dominant)" "" "0000578264" "0" "90" "5" "132269994" "132269994" "subst" "0" "00006" "AFF4_000009" "g.132269994C>T" "" "{PMID:Raible 2019:31058441}" "" "" "" "De novo" "" "" "0" "" "" "g.132934302C>T" "" "pathogenic (dominant)" "" "0000578265" "0" "90" "5" "132269985" "132269985" "subst" "0" "00006" "AFF4_000006" "g.132269985G>A" "" "{PMID:Raible 2019:31058441}" "" "" "" "De novo" "" "" "0" "" "" "g.132934293G>A" "" "pathogenic (dominant)" "" "0000578266" "0" "90" "5" "132269999" "132269999" "subst" "0" "00006" "AFF4_000010" "g.132269999G>C" "" "{PMID:Raible 2019:31058441}" "" "" "" "De novo" "" "" "0" "" "" "g.132934307G>C" "" "pathogenic (dominant)" "" "0000578267" "0" "90" "5" "132269985" "132269985" "subst" "0" "00006" "AFF4_000006" "g.132269985G>A" "" "{PMID:Raible 2019:31058441}" "" "" "" "De novo" "" "" "0" "" "" "g.132934293G>A" "" "pathogenic (dominant)" "" "0000578268" "0" "90" "5" "132269978" "132269978" "subst" "0" "00006" "AFF4_000011" "g.132269978A>G" "" "{PMID:Raible 2019:31058441}" "" "" "" "De novo" "" "" "0" "" "" "g.132934286A>G" "" "pathogenic (dominant)" "" "0000578269" "0" "90" "5" "132269985" "132269985" "subst" "0" "00006" "AFF4_000006" "g.132269985G>A" "" "{PMID:Raible 2019:31058441}" "" "" "" "De novo" "" "" "0" "" "" "g.132934293G>A" "" "pathogenic (dominant)" "" "0000578270" "0" "90" "5" "132269985" "132269985" "subst" "0" "00006" "AFF4_000006" "g.132269985G>A" "" "{PMID:Raible 2019:31058441}" "" "" "" "De novo" "" "" "0" "" "" "g.132934293G>A" "" "pathogenic (dominant)" "" "0000578271" "0" "90" "5" "132269985" "132269985" "subst" "0" "00006" "AFF4_000006" "g.132269985G>A" "" "{PMID:Raible 2019:31058441}" "" "" "" "De novo" "" "" "0" "" "" "g.132934293G>A" "" "pathogenic (dominant)" "" "0000609479" "0" "50" "5" "132234814" "132234814" "subst" "0" "01804" "AFF4_000012" "g.132234814G>A" "" "" "" "AFF4(NM_014423.3):c.1208C>T (p.(Pro403Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132899122G>A" "" "VUS" "" "0000609480" "0" "70" "5" "132269979" "132269979" "subst" "0" "02327" "AFF4_000013" "g.132269979T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132934287T>C" "" "likely pathogenic" "" "0000651602" "1" "30" "5" "132232736" "132232736" "subst" "0.000211312" "03575" "AFF4_000014" "g.132232736G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs188073736}" "Germline" "" "rs188073736" "0" "" "" "g.132897044G>A" "" "likely benign" "" "0000689427" "0" "50" "5" "132219154" "132219154" "subst" "8.12724E-6" "02325" "AFF4_000015" "g.132219154G>C" "" "" "" "AFF4(NM_014423.3):c.3242C>G (p.(Ser1081Cys)), AFF4(NM_014423.4):c.3242C>G (p.S1081C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689428" "0" "30" "5" "132224834" "132224834" "subst" "0.000215258" "01943" "AFF4_000016" "g.132224834G>A" "" "" "" "AFF4(NM_014423.3):c.2669C>T (p.P890L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689429" "0" "30" "5" "132270656" "132270660" "del" "0" "01943" "AFF4_000017" "g.132270656_132270660del" "" "" "" "AFF4(NM_014423.3):c.124-12_124-8delATTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801884" "0" "50" "5" "132227891" "132227891" "subst" "0" "02325" "AFF4_000018" "g.132227891C>T" "" "" "" "AFF4(NM_014423.4):c.2602G>A (p.E868K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801885" "0" "30" "5" "132232148" "132232148" "subst" "0.000113759" "02325" "AFF4_000019" "g.132232148C>G" "" "" "" "AFF4(NM_014423.4):c.2174G>C (p.R725T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801886" "0" "30" "5" "132232750" "132232750" "subst" "4.06256E-6" "01943" "AFF4_000020" "g.132232750C>T" "" "" "" "AFF4(NM_014423.3):c.1572G>A (p.T524=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801887" "0" "30" "5" "132269839" "132269839" "subst" "0.000208806" "01943" "AFF4_000021" "g.132269839A>G" "" "" "" "AFF4(NM_014423.3):c.918T>C (p.D306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886596" "0" "30" "5" "132232487" "132232487" "subst" "6.92882E-5" "02325" "AFF4_000022" "g.132232487T>C" "" "" "" "AFF4(NM_014423.4):c.1835A>G (p.N612S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924241" "0" "50" "5" "132232860" "132232860" "subst" "0" "02325" "AFF4_000023" "g.132232860G>T" "" "" "" "AFF4(NM_014423.4):c.1462C>A (p.P488T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924242" "0" "30" "5" "132269927" "132269927" "subst" "0.000556323" "02325" "AFF4_000024" "g.132269927C>G" "" "" "" "AFF4(NM_014423.4):c.830G>C (p.S277T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963428" "0" "50" "5" "132269933" "132269933" "subst" "2.84282E-5" "02325" "AFF4_000026" "g.132269933T>C" "" "" "" "AFF4(NM_014423.4):c.824A>G (p.Y275C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976547" "0" "30" "5" "132270084" "132270084" "subst" "0.000357349" "01804" "AFF4_000027" "g.132270084G>C" "" "" "" "AFF4(NM_014423.4):c.673C>G (p.(Arg225Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976548" "0" "50" "5" "132270240" "132270242" "dup" "0" "01804" "AFF4_000028" "g.132270240_132270242dup" "" "" "" "AFF4(NM_014423.4):c.516_518dup (p.(Glu172_His173insGln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994644" "0" "50" "5" "132219027" "132219027" "subst" "8.14611E-6" "01804" "AFF4_000029" "g.132219027C>T" "" "" "" "AFF4(NM_014423.3):c.3364+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994645" "0" "50" "5" "132219082" "132219082" "subst" "3.65809E-5" "01804" "AFF4_000030" "g.132219082T>C" "" "" "" "AFF4(NM_014423.3):c.3314A>G (p.(Tyr1105Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994646" "0" "50" "5" "132219154" "132219154" "subst" "8.12724E-6" "01804" "AFF4_000015" "g.132219154G>C" "" "" "" "AFF4(NM_014423.3):c.3242C>G (p.(Ser1081Cys)), AFF4(NM_014423.4):c.3242C>G (p.S1081C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994647" "0" "50" "5" "132219166" "132219166" "subst" "0" "01804" "AFF4_000031" "g.132219166G>A" "" "" "" "AFF4(NM_014423.3):c.3230C>T (p.(Ser1077Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994648" "0" "30" "5" "132220789" "132220789" "subst" "3.39879E-5" "01804" "AFF4_000032" "g.132220789G>A" "" "" "" "AFF4(NM_014423.3):c.3122C>T (p.(Ala1041Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994649" "0" "50" "5" "132227890" "132227890" "subst" "0" "01804" "AFF4_000033" "g.132227890T>G" "" "" "" "AFF4(NM_014423.3):c.2603A>C (p.(Glu868Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994650" "0" "30" "5" "132232767" "132232767" "subst" "0" "01804" "AFF4_000034" "g.132232767T>C" "" "" "" "AFF4(NM_014423.3):c.1555A>G (p.(Ser519Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994651" "0" "50" "5" "132234070" "132234070" "subst" "0" "01804" "AFF4_000035" "g.132234070G>A" "" "" "" "AFF4(NM_014423.3):c.1241C>T (p.(Ser414Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994652" "0" "50" "5" "132267910" "132267910" "subst" "0" "01804" "AFF4_000036" "g.132267910G>C" "" "" "" "AFF4(NM_014423.3):c.923C>G (p.(Ser308*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994653" "0" "30" "5" "132270131" "132270131" "subst" "2.43645E-5" "01804" "AFF4_000037" "g.132270131C>T" "" "" "" "AFF4(NM_014423.3):c.626G>A (p.(Arg209His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994654" "0" "50" "5" "132270177" "132270177" "subst" "8.12117E-6" "02325" "AFF4_000038" "g.132270177G>T" "" "" "" "AFF4(NM_014423.4):c.580C>A (p.H194N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994655" "0" "30" "5" "132270480" "132270480" "subst" "8.12216E-6" "01804" "AFF4_000039" "g.132270480T>G" "" "" "" "AFF4(NM_014423.3):c.277A>C (p.(Asn93His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994656" "0" "50" "5" "132272821" "132272821" "subst" "0" "01804" "AFF4_000040" "g.132272821T>C" "" "" "" "AFF4(NM_014423.3):c.61A>G (p.(Ile21Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994657" "0" "50" "5" "132272841" "132272841" "subst" "8.12902E-6" "01804" "AFF4_000041" "g.132272841C>T" "" "" "" "AFF4(NM_014423.3):c.41G>A (p.(Arg14Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025030" "0" "50" "5" "132270020" "132270020" "subst" "0" "02325" "AFF4_000042" "g.132270020G>A" "" "" "" "AFF4(NM_014423.4):c.737C>T (p.S246F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034890" "0" "30" "5" "132221994" "132221994" "subst" "0" "01804" "AFF4_000043" "g.132221994A>G" "" "" "" "AFF4(NM_014423.4):c.3099+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034891" "0" "30" "5" "132228002" "132228002" "subst" "1.62583E-5" "01804" "AFF4_000044" "g.132228002G>A" "" "" "" "AFF4(NM_014423.4):c.2491C>T (p.(Arg831Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034892" "0" "30" "5" "132229114" "132229114" "subst" "0" "01804" "AFF4_000045" "g.132229114T>C" "" "" "" "AFF4(NM_014423.4):c.2308-304A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034893" "0" "30" "5" "132259729" "132259729" "subst" "0" "01804" "AFF4_000046" "g.132259729C>A" "" "" "" "AFF4(NM_014423.4):c.1050+3084G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034894" "0" "50" "5" "132270090" "132270090" "subst" "0" "02325" "AFF4_000047" "g.132270090G>C" "" "" "" "AFF4(NM_014423.4):c.667C>G (p.P223A)" "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 AFF4 ## Count = 51 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000079500" "00002201" "00" "-8388608" "0" "8388607" "0" "c.-13418339_*8388227dup" "" "" "" "0000345329" "00002201" "30" "857" "0" "857" "0" "c.857A>T" "r.(?)" "p.(Glu286Val)" "" "0000524182" "00002201" "50" "1591" "0" "1591" "0" "c.1591C>T" "r.(?)" "p.(Arg531Ter)" "" "0000524185" "00002201" "50" "807" "0" "807" "0" "c.807G>T" "r.(?)" "p.(Lys269Asn)" "" "0000524186" "00002201" "90" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Arg258Trp)" "" "0000578261" "00002201" "90" "761" "0" "761" "0" "c.761C>G" "r.(?)" "p.(Thr254Ser)" "" "0000578262" "00002201" "90" "760" "0" "760" "0" "c.760A>G" "r.(?)" "p.(Thr254Ala)" "" "0000578264" "00002201" "90" "763" "0" "763" "0" "c.763G>A" "r.(?)" "p.(Ala255Thr)" "" "0000578265" "00002201" "90" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Arg258Trp)" "" "0000578266" "00002201" "90" "758" "0" "758" "0" "c.758C>G" "r.(?)" "p.(Pro253Arg)" "" "0000578267" "00002201" "90" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Arg258Trp)" "" "0000578268" "00002201" "90" "779" "0" "779" "0" "c.779T>C" "r.(?)" "p.(Met260Thr)" "" "0000578269" "00002201" "90" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Arg258Trp)" "" "0000578270" "00002201" "90" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Arg258Trp)" "" "0000578271" "00002201" "90" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Arg258Trp)" "" "0000609479" "00002201" "50" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Pro403Leu)" "" "0000609480" "00002201" "70" "778" "0" "778" "0" "c.778A>G" "r.(?)" "p.(Met260Val)" "" "0000651602" "00002201" "30" "1586" "0" "1586" "0" "c.1586C>T" "r.(?)" "p.(Pro529Leu)" "" "0000689427" "00002201" "50" "3242" "0" "3242" "0" "c.3242C>G" "r.(?)" "p.(Ser1081Cys)" "" "0000689428" "00002201" "30" "2669" "0" "2669" "0" "c.2669C>T" "r.(?)" "p.(Pro890Leu)" "" "0000689429" "00002201" "30" "124" "-12" "124" "-8" "c.124-12_124-8del" "r.(=)" "p.(=)" "" "0000801884" "00002201" "50" "2602" "0" "2602" "0" "c.2602G>A" "r.(?)" "p.(Glu868Lys)" "" "0000801885" "00002201" "30" "2174" "0" "2174" "0" "c.2174G>C" "r.(?)" "p.(Arg725Thr)" "" "0000801886" "00002201" "30" "1572" "0" "1572" "0" "c.1572G>A" "r.(?)" "p.(Thr524=)" "" "0000801887" "00002201" "30" "918" "0" "918" "0" "c.918T>C" "r.(?)" "p.(Asp306=)" "" "0000886596" "00002201" "30" "1835" "0" "1835" "0" "c.1835A>G" "r.(?)" "p.(Asn612Ser)" "" "0000924241" "00002201" "50" "1462" "0" "1462" "0" "c.1462C>A" "r.(?)" "p.(Pro488Thr)" "" "0000924242" "00002201" "30" "830" "0" "830" "0" "c.830G>C" "r.(?)" "p.(Ser277Thr)" "" "0000963428" "00002201" "50" "824" "0" "824" "0" "c.824A>G" "r.(?)" "p.(Tyr275Cys)" "" "0000976547" "00002201" "30" "673" "0" "673" "0" "c.673C>G" "r.(?)" "p.(Arg225Gly)" "" "0000976548" "00002201" "50" "516" "0" "518" "0" "c.516_518dup" "r.(?)" "p.(Glu172_His173insGln)" "" "0000994644" "00002201" "50" "3364" "5" "3364" "5" "c.3364+5G>A" "r.spl?" "p.?" "" "0000994645" "00002201" "50" "3314" "0" "3314" "0" "c.3314A>G" "r.(?)" "p.(Tyr1105Cys)" "" "0000994646" "00002201" "50" "3242" "0" "3242" "0" "c.3242C>G" "r.(?)" "p.(Ser1081Cys)" "" "0000994647" "00002201" "50" "3230" "0" "3230" "0" "c.3230C>T" "r.(?)" "p.(Ser1077Phe)" "" "0000994648" "00002201" "30" "3122" "0" "3122" "0" "c.3122C>T" "r.(?)" "p.(Ala1041Val)" "" "0000994649" "00002201" "50" "2603" "0" "2603" "0" "c.2603A>C" "r.(?)" "p.(Glu868Ala)" "" "0000994650" "00002201" "30" "1555" "0" "1555" "0" "c.1555A>G" "r.(?)" "p.(Ser519Gly)" "" "0000994651" "00002201" "50" "1241" "0" "1241" "0" "c.1241C>T" "r.(?)" "p.(Ser414Leu)" "" "0000994652" "00002201" "50" "923" "0" "923" "0" "c.923C>G" "r.(?)" "p.(Ser308*)" "" "0000994653" "00002201" "30" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209His)" "" "0000994654" "00002201" "50" "580" "0" "580" "0" "c.580C>A" "r.(?)" "p.(His194Asn)" "" "0000994655" "00002201" "30" "277" "0" "277" "0" "c.277A>C" "r.(?)" "p.(Asn93His)" "" "0000994656" "00002201" "50" "61" "0" "61" "0" "c.61A>G" "r.(?)" "p.(Ile21Val)" "" "0000994657" "00002201" "50" "41" "0" "41" "0" "c.41G>A" "r.(?)" "p.(Arg14Gln)" "" "0001025030" "00002201" "50" "737" "0" "737" "0" "c.737C>T" "r.(?)" "p.(Ser246Phe)" "" "0001034890" "00002201" "30" "3099" "8" "3099" "8" "c.3099+8T>C" "r.(=)" "p.(=)" "" "0001034891" "00002201" "30" "2491" "0" "2491" "0" "c.2491C>T" "r.(?)" "p.(Arg831Trp)" "" "0001034892" "00002201" "30" "2308" "-304" "2308" "-304" "c.2308-304A>G" "r.(=)" "p.(=)" "" "0001034893" "00002201" "30" "1050" "3084" "1050" "3084" "c.1050+3084G>T" "r.(=)" "p.(=)" "" "0001034894" "00002201" "50" "667" "0" "667" "0" "c.667C>G" "r.(?)" "p.(Pro223Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000050520" "0000079500" "0000249477" "0000578261" "0000249478" "0000578262" "0000249480" "0000578264" "0000249481" "0000578265" "0000249482" "0000578266" "0000249483" "0000578267" "0000249484" "0000578268" "0000249485" "0000578269" "0000249486" "0000578270" "0000249487" "0000578271" "0000294913" "0000651602"