### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NONO) # 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}}" "NONO" "non-POU domain containing, octamer-binding" "X" "q13.1" "unknown" "NC_000023.10" "UD_132609897775" "" "https://www.LOVD.nl/NONO" "" "1" "7871" "4841" "300084" "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/NONO_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2022-09-28 09:05:39" "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}}" "00000954" "NONO" "transcript variant 2" "002" "NM_007363.4" "" "NP_031389.3" "" "" "" "-596" "2508" "1416" "70503042" "70521018" "00000" "2012-09-13 13:02:21" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05159" "MRXS34" "mental retardation, X-linked, syndromic, type 34" "XL" "300967" "" "" "" "00008" "2016-04-28 17:27:30" "00006" "2022-09-28 08:54:55" "05533" "MR;ID" "mental retardation (MR, intellectual disability (ID))" "" "" "" "" "" "00006" "2018-12-18 09:22:07" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NONO" "05159" "NONO" "05533" ## 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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00417862" "" "" "" "1" "cc_by-nc-sa_4.0;1" "04387" "" "" "M" "" "China" "" "0" "" "" "" "" "00418356" "" "" "" "1" "" "00006" "{PMID:Mircsof 2015:26571461}" "2 generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "MCCID1" "00418357" "" "" "" "1" "" "00006" "{PMID:Mircsof 2015:26571461}" "2 generation family, 1 affected, unaffected carrier mother" "M" "" "" "" "0" "" "" "" "MCCID2" "00418358" "" "" "" "1" "" "00006" "{PMID:Mircsof 2015:26571461}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DECIPHER" "00418359" "" "" "" "1" "" "00006" "{PMID:Scott 2017:27550220}" "2 generation family, 1 affected, no family history" "M" "" "United States" "" "0" "" "" "Hispanic" "Ind1" "00418360" "" "" "" "1" "" "00006" "{PMID:Scott 2017:27550220}" "2 generation family, 1 affected, no family history" "M" "" "United States" "" "0" "" "" "Hispanic" "Ind2" "00418361" "" "" "" "1" "" "00006" "{PMID:Scott 2017:27550220}" "2 generation family, 1 affected, no family history, asymptomatic mother" "M" "" "United States" "" "0" "" "" "Hispanic" "Ind3" "00418362" "" "" "" "1" "" "00006" "{PMID:Reinstein 2016:27329731}" "" "M" "" "Israel" "" "0" "" "" "Jew-Ashkenazi;Libya" "patient" "00418363" "" "" "" "1" "" "00006" "{PMID:Carlston 2019:30773818}" "2 generation family, 1 affected, unaffected carrier mother" "M" "" "United States" "" "0" "" "" "" "patient" "00460911" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00417862" "05159" "00418356" "00139" "00418357" "00139" "00418358" "00139" "00418359" "00152" "00418360" "00152" "00418361" "00152" "00418362" "00139" "00418363" "00139" "00460911" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00152, 00198, 01157, 05159, 05533 ## Count = 11 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000309682" "05159" "00417862" "04387" "Familial, X-linked recessive" "" "tricuspid regurgitation; abnormal myocardium morphology; ventricular septal defect; anemia; hepatic hemangioma; postnatal growth retardation; noncompaction cardiomyopathy, atrial septal defect" "" "" "" "" "" "" "" "" "" "" "" "0000309725" "00139" "00418356" "00006" "Isolated (sporadic)" "17y" "no antenatal findings; birth weight 3370g, length 50.5cm, OFC 34cm; weight 50kg (<-2SD), height 179cm (+1SD), OFC 59cm; 3y-walk, speech short sentences; nasal speech; severe elocution disability; drooling; intellectual disability; epilepsy; strabismus, myopia; shy, gentle, cheerful; normal puberty; slender built; scoliosis; bilateral ankylosis of MCP joint of P1; pes planus; long face; upslanting palpebral fissures; malarhypoplasia; thin high nasal root, deviated nasal septum; open mouth; narrow high palate; crowding teeth; MRI brain thick corpus callosum, cyst septum pellucidum, normal ventricles, hypoplastic cerebellum" "" "" "" "" "" "" "" "" "MRXS34" "syndromic intellectual disability" "" "0000309726" "00139" "00418357" "00006" "Familial, X-linked recessive" "15y" "antenatal hydranios; birth weight 2540g, length 46cm, OFC 35.5cm ; weight -2SD, height -2SD, OFC +2SD; 3y-walk, speech short sentences; nasal speech; severe elocution disability; drooling; intellectual disability; no epilepsy; strabismus; shy, gentle, cheerful; no sleeping disorder; delayed puberty; slender built; scoliosis; bilateral ankylosis of MCP joint of P1; pes planus; long face; upslanting palpebral fissures; malarhypoplasia; thin high nasal root, deviated nasal septum; small mouth, open mouth; narrow high palate; crowding teeth, carries; EEG no gross anomaly; MRI brain thick corpus callosum, asymmetric lateral ventricles, cerebellum Chiari malformation type I" "" "" "" "" "" "" "" "" "MRXS34" "syndromic intellectual disability" "" "0000309727" "00139" "00418358" "00006" "Familial, X-linked" "20y" "intra-uterine growth retardation; birth weight <<0.4thC, length <3rdC, OFC 10thC; weight 42kg (<0.4th), height 164.3cm (2nd-9th), OFC 55.3cm; 7y-walk, speech short sentences; no nasal speech; elocution disability; drooling; intellectual disability; no epilepsy; myopia, nystagmus-registered as partially sighted; shy with strangers, gentle, affectionate, cheerful, mood swings ; no sleeping disorder; delayed puberty; slender built; kyphosis; bilateral ankylosis of MCP joint of P1, proximal interphalangeal joint; pes planus; long face; upslanting palpebral fissures; malarhypoplasia; thin high nasal root; small mouth, open mouth; submuscous cleft, high palate, with bifid uvula; crowded protruding teeth, thickened gums; CT brain dysgenesis corpus callosum, widely spaced with a high 3rd ventricle" "" "" "" "" "" "" "" "" "MRXS34" "syndromic intellectual disability" "" "0000309728" "00152" "00418359" "00006" "Isolated (sporadic)" "10y" "atrial septal defect, left ventricular non-compaction, patent ductus arteriosu, right ventricular hypertrophy, ventricular septal defect; no hypotonia; language delay; gross motor delay; feeding problems; MRI brain 1m-normal, 1y4m-mild truncation splenium of corpus callosum; relative macrocephaly, plagiocephaly, bilateral epicanthal folds, downslanting palpebral fissures, bilateral accessory nipples, widely spaced teeth, fifth finger clinodactyly" "" "" "" "" "" "" "" "" "MRXS34" "congenital heart defect, left ventricular non-compaction" "" "0000309729" "00152" "00418360" "00006" "Familial, X-linked recessive" "5y" "atrial septal defect, left ventricular non-compaction, patent ductus arteriosu, ventricular septal defect; hypotonia; language delay; gross motor delay; feeding problems; MRI brain 3m-normal; relative macrocephaly, frontal bossing, café au lait and hypopigmented macules, planovalgus" "" "" "" "" "" "" "" "" "MRXS34" "congenital heart defect, left ventricular non-compaction" "" "0000309730" "00152" "00418361" "00006" "Familial, X-linked" "01y03m" "no atrial septal defect, left ventricular non-compaction, no ventricular septal defect, patent foramen ovale; hypotonia; ischaemic brain injury; gross motor delay; no feeding problems; MRI brain 10m-underdeveloped corpus callosum, persistent cavum septum pellucidum, dilated right ventricular system, superiorly positioned fourth ventricle, mild midbrain elongation, adysplasia cerebellum and mesial surfaces occipital and inferior parietal lobules; relative macrocephaly, frontal bossing; maternal half-brother died perinatally with Ebstein anomaly, 5y maternal half-sister heart murmur" "" "" "" "" "" "" "" "" "MRXS34" "congenital heart defect, left ventricular non-compaction" "" "0000309731" "00139" "00418362" "00006" "Isolated (sporadic)" "17y" "see paper; ..., intellectual disability, developmental delay, dysmorphism, non-compaction cardiomyopathy" "" "" "" "" "" "" "" "" "MRXS34" "intellectual disability" "" "0000309732" "00139" "00418363" "00006" "Familial, X-linked recessive" "02y" "see paper; ..., developmental delay, relative macrocephaly, dilated cardiomyopathy with LVNC and Ebstein anomaly.; MRI brain thick corpus callosum, mild Chiari I malformation, flattened pituitary" "" "" "" "" "" "" "" "" "MRXS34" "intellectual disability" "" ## 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}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000419158" "00417862" "1" "04387" "04387" "2022-09-27 10:15:15" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000419651" "00418356" "1" "00006" "00006" "2022-09-28 19:18:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419652" "00418357" "1" "00006" "00006" "2022-09-28 19:18:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419653" "00418358" "1" "00006" "00006" "2022-09-28 19:18:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419654" "00418359" "1" "00006" "00006" "2022-09-28 19:38:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419655" "00418360" "1" "00006" "00006" "2022-09-28 19:38:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419656" "00418361" "1" "00006" "00006" "2022-09-28 19:38:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419657" "00418362" "1" "00006" "00006" "2022-09-28 20:32:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419659" "00418363" "1" "00006" "00006" "2022-09-28 20:45:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000462543" "00460911" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "mRNA splicing analysis on tissue" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000419158" "NONO" "0000462543" "NONO" ## 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 = 45 "{{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}}" "0000003041" "0" "50" "X" "70520237" "70520237" "del" "0" "00037" "NONO_000006" "g.70520237del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.71300387del" "" "VUS" "" "0000007138" "20" "50" "X" "70518246" "70518246" "subst" "0" "00037" "NONO_000001" "g.70518246T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.71298396T>C" "" "VUS" "" "0000009225" "20" "50" "X" "70518246" "70518246" "subst" "0" "00037" "NONO_000001" "g.70518246T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.71298396T>C" "" "VUS" "" "0000009226" "0" "50" "X" "70520251" "70520251" "dup" "0" "00037" "NONO_000005" "g.70520251dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.71300401dup" "" "VUS" "" "0000304252" "0" "30" "X" "70518595" "70518595" "subst" "0.000210417" "01943" "NONO_000010" "g.70518595G>A" "" "" "" "NONO(NM_001145408.1):c.1210G>A (p.A404T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71298745G>A" "" "likely benign" "" "0000334583" "0" "50" "X" "70517221" "70517221" "subst" "0" "01804" "NONO_000009" "g.70517221T>G" "" "" "" "NONO(NM_001145408.1):c.944-6T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71297371T>G" "" "VUS" "" "0000334584" "0" "50" "X" "70521693" "70521693" "subst" "0.0029894" "01804" "ITGB1BP2_000002" "g.70521693C>T" "" "" "" "ITGB1BP2(NM_012278.1):c.37C>T (p.(His13Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71301843C>T" "" "VUS" "" "0000334585" "0" "50" "X" "70522155" "70522155" "subst" "0.00133715" "01804" "ITGB1BP2_000003" "g.70522155T>G" "" "" "" "ITGB1BP2(NM_012278.1):c.143T>G (p.(Val48Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71302305T>G" "" "VUS" "" "0000341972" "0" "70" "X" "70514185" "70514185" "subst" "0" "02327" "NONO_000011" "g.70514185C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71294335C>T" "" "likely pathogenic" "" "0000577286" "0" "50" "X" "70510534" "70510534" "subst" "0" "02327" "NONO_000012" "g.70510534C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71290684C>G" "" "VUS" "" "0000577288" "0" "50" "X" "70523325" "70523325" "subst" "0" "01943" "ITGB1BP2_000005" "g.70523325A>T" "" "" "" "ITGB1BP2(NM_012278.3):c.427A>T (p.I143F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71303475A>T" "" "VUS" "" "0000577289" "0" "30" "X" "70523328" "70523328" "subst" "0.000212566" "01943" "ITGB1BP2_000006" "g.70523328C>T" "" "" "" "ITGB1BP2(NM_012278.3):c.430C>T (p.R144W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71303478C>T" "" "likely benign" "" "0000619848" "0" "30" "X" "70517776" "70517776" "subst" "0" "01943" "ITGB1BP2_000007" "g.70517776C>T" "" "" "" "NONO(NM_001145408.1):c.1119C>T (p.T373=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71297926C>T" "" "likely benign" "" "0000682614" "0" "50" "X" "70524047" "70524047" "subst" "2.8156E-5" "01943" "ITGB1BP2_000004" "g.70524047C>T" "" "" "" "ITGB1BP2(NM_012278.3):c.650C>T (p.S217F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682615" "0" "50" "X" "70524450" "70524450" "subst" "0" "01943" "ITGB1BP2_000008" "g.70524450G>T" "" "" "" "ITGB1BP2(NM_012278.3):c.812G>T (p.W271L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693714" "0" "70" "X" "70516729" "70516729" "subst" "0" "02327" "ITGB1BP2_000009" "g.70516729C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000729157" "0" "30" "X" "70519823" "70519823" "subst" "5.60067E-6" "01943" "ITGB1BP2_000010" "g.70519823C>T" "" "" "" "NONO(NM_001145408.1):c.1313C>T (p.A438V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810632" "0" "30" "X" "70514172" "70514172" "subst" "0" "01943" "NONO_000013" "g.70514172A>G" "" "" "" "NONO(NM_001145408.1):c.444A>G (p.A148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810633" "0" "30" "X" "70514175" "70514175" "subst" "0.000363606" "01943" "NONO_000014" "g.70514175C>T" "" "" "" "NONO(NM_001145408.1):c.447C>T (p.S149=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810634" "0" "30" "X" "70517682" "70517682" "subst" "0.000234755" "02325" "ITGB1BP2_000011" "g.70517682G>C" "" "" "" "NONO(NM_001145408.2):c.1029-4G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810635" "0" "50" "X" "70519864" "70519866" "del" "0" "01943" "ITGB1BP2_000012" "g.70519864_70519866del" "" "" "" "NONO(NM_001145408.1):c.1354_1356delCCT (p.P452del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856765" "0" "30" "X" "70514193" "70514193" "subst" "0" "01943" "NONO_000016" "g.70514193T>C" "" "" "" "NONO(NM_001145408.1):c.465T>C (p.L155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856766" "0" "30" "X" "70514301" "70514301" "subst" "0.000539687" "01943" "NONO_000017" "g.70514301C>T" "" "" "" "NONO(NM_001145408.1):c.573C>T (p.G191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867534" "0" "50" "X" "70510568" "70510570" "dup" "6.0794E-6" "01943" "NONO_000015" "g.70510568_70510570dup" "" "" "" "NONO(NM_001145408.1):c.81_83dupGCA (p.Q27dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867535" "0" "30" "X" "70516818" "70516818" "subst" "5.74046E-5" "01943" "ITGB1BP2_000013" "g.70516818C>T" "" "" "" "NONO(NM_001145408.1):c.864C>T (p.N288=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867536" "0" "50" "X" "70522142" "70522142" "subst" "5.5956E-6" "01943" "ITGB1BP2_000014" "g.70522142C>T" "" "" "" "ITGB1BP2(NM_012278.3):c.130C>T (p.R44*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000879094" "0" "90" "X" "70514185" "70514185" "subst" "0" "04387" "NONO_000011" "g.70514185C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.71294335C>T" "833999" "pathogenic" "ACMG" "0000879747" "0" "90" "X" "70517788" "70517788" "subst" "0" "00006" "NONO_000021" "g.70517788G>A" "" "{PMID:Mircsof 2015:26571461}" "" "" "" "De novo" "" "" "0" "" "" "g.71297938G>A" "" "pathogenic" "" "0000879748" "21" "90" "X" "70519904" "70519904" "dup" "0" "00006" "NONO_000022" "g.70519904dup" "" "{PMID:Mircsof 2015:26571461}" "" "" "" "Germline" "" "" "0" "" "" "g.71300054dup" "" "pathogenic (recessive)" "" "0000879749" "0" "90" "X" "70517750" "70517750" "subst" "0" "00006" "NONO_000020" "g.70517750C>T" "" "{PMID:Mircsof 2015:26571461}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.71297900C>T" "" "pathogenic" "" "0000879750" "0" "90" "X" "70517750" "70517750" "subst" "0" "00006" "NONO_000020" "g.70517750C>T" "" "{PMID:Scott 2017:27550220}" "" "" "" "De novo" "" "" "0" "" "" "g.71297900C>T" "" "pathogenic" "" "0000879751" "0" "90" "X" "70519904" "70519904" "dup" "0" "00006" "NONO_000022" "g.70519904dup" "" "{PMID:Scott 2017:27550220}" "" "1394dupC" "" "De novo" "" "" "0" "" "" "g.71300054dup" "" "pathogenic" "" "0000879752" "21" "90" "X" "70483888" "70514427" "del" "0" "00006" "NONO_000018" "g.(70475642_70483888)_(70514427_70516350)del" "" "{PMID:Scott 2017:27550220}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000879761" "0" "90" "X" "70518359" "70518359" "subst" "0" "00006" "NONO_000007" "g.70518359G>T" "" "{PMID:Reinstein 2016:27329731}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000879766" "21" "90" "X" "70510646" "70510647" "del" "0" "00006" "NONO_000019" "g.70510646_70510647del" "" "" "" "154+5_154+6delGT" "variant de novo in patient\'s unaffected mother" "Germline" "" "" "0" "" "" "g.71290796_71290797del" "" "pathogenic (recessive)" "" "0000896346" "0" "50" "X" "70516853" "70516853" "subst" "0" "02326" "ITGB1BP2_000015" "g.70516853T>C" "" "" "" "NONO(NM_001145408.2):c.899T>C (p.M300T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915756" "0" "50" "X" "70524857" "70524857" "subst" "1.12162E-5" "02325" "ITGB1BP2_000016" "g.70524857C>T" "" "" "" "ITGB1BP2(NM_012278.4):c.859C>T (p.R287W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000971308" "0" "50" "X" "70514333" "70514333" "subst" "0" "02325" "NONO_000023" "g.70514333G>A" "" "" "" "NONO(NM_001145408.2):c.605G>A (p.R202Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984846" "0" "50" "X" "70523738" "70523738" "subst" "0" "02325" "ITGB1BP2_000017" "g.70523738G>A" "" "" "" "ITGB1BP2(NM_012278.4):c.616G>A (p.G206S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006937" "0" "50" "X" "70514219" "70514219" "subst" "0" "01804" "NONO_000024" "g.70514219T>C" "" "" "" "NONO(NM_007363.4):c.491T>C (p.(Leu164Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006938" "0" "50" "X" "70517283" "70517283" "subst" "0" "01804" "ITGB1BP2_000018" "g.70517283G>A" "" "" "" "NONO(NM_007363.4):c.1000G>A (p.(Val334Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006939" "0" "50" "X" "70523762" "70523762" "subst" "0" "01804" "ITGB1BP2_000019" "g.70523762G>A" "" "" "" "ITGB1BP2(NM_012278.1):c.639+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001022070" "0" "50" "X" "70517221" "70517221" "subst" "0" "04796" "NONO_000009" "g.70517221T>G" "" "" "" "" "no effect on RNA" "Germline/De novo (untested)" "" "" "0" "" "" "g.71297371T>G" "" "VUS" "" "0001027528" "0" "50" "X" "70510571" "70510582" "dup" "0" "02325" "NONO_000025" "g.70510571_70510582dup" "" "" "" "NONO(NM_001145408.2):c.84_95dupCCACCAGCAGCA (p.H28_Q31dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044482" "0" "50" "X" "70524052" "70524052" "subst" "5.62829E-6" "01804" "ITGB1BP2_000020" "g.70524052C>T" "" "" "" "ITGB1BP2(NM_012278.4):c.655C>T (p.(Arg219Cys))" "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 NONO ## Count = 45 "{{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}}" "0000003041" "00000954" "50" "1727" "0" "1727" "0" "c.*311del" "r.(=)" "p.(=)" "" "0000007138" "00000954" "50" "1132" "-73" "1132" "-73" "c.1132-73T>C" "r.(=)" "p.(=)" "" "0000009225" "00000954" "50" "1132" "-73" "1132" "-73" "c.1132-73T>C" "r.(=)" "p.(=)" "" "0000009226" "00000954" "50" "1741" "0" "1741" "0" "c.*325dup" "r.(=)" "p.(=)" "" "0000304252" "00000954" "30" "1210" "0" "1210" "0" "c.1210G>A" "r.(?)" "p.(Ala404Thr)" "" "0000334583" "00000954" "50" "944" "-6" "944" "-6" "c.944-6T>G" "r.(=)" "p.(=)" "" "0000334584" "00000954" "50" "3183" "0" "3183" "0" "c.*1767C>T" "r.(=)" "p.(=)" "" "0000334585" "00000954" "50" "3645" "0" "3645" "0" "c.*2229T>G" "r.(=)" "p.(=)" "" "0000341972" "00000954" "70" "457" "0" "457" "0" "c.457C>T" "r.(?)" "p.(Arg153Ter)" "" "0000577286" "00000954" "50" "47" "0" "47" "0" "c.47C>G" "r.(?)" "p.(Pro16Arg)" "" "0000577288" "00000954" "50" "4815" "0" "4815" "0" "c.*3399A>T" "r.(=)" "p.(=)" "" "0000577289" "00000954" "30" "4818" "0" "4818" "0" "c.*3402C>T" "r.(=)" "p.(=)" "" "0000619848" "00000954" "30" "1119" "0" "1119" "0" "c.1119C>T" "r.(?)" "p.(Thr373=)" "" "0000682614" "00000954" "50" "5537" "0" "5537" "0" "c.*4121C>T" "r.(=)" "p.(=)" "" "0000682615" "00000954" "50" "5940" "0" "5940" "0" "c.*4524G>T" "r.(=)" "p.(=)" "" "0000693714" "00000954" "70" "775" "0" "775" "0" "c.775C>T" "r.(?)" "p.(Gln259Ter)" "" "0000729157" "00000954" "30" "1313" "0" "1313" "0" "c.1313C>T" "r.(?)" "p.(Ala438Val)" "" "0000810632" "00000954" "30" "444" "0" "444" "0" "c.444A>G" "r.(?)" "p.(Ala148=)" "" "0000810633" "00000954" "30" "447" "0" "447" "0" "c.447C>T" "r.(?)" "p.(Ser149=)" "" "0000810634" "00000954" "30" "1029" "-4" "1029" "-4" "c.1029-4G>C" "r.spl?" "p.?" "" "0000810635" "00000954" "50" "1354" "0" "1356" "0" "c.1354_1356del" "r.(?)" "p.(Pro452del)" "" "0000856765" "00000954" "30" "465" "0" "465" "0" "c.465T>C" "r.(?)" "p.(Leu155=)" "" "0000856766" "00000954" "30" "573" "0" "573" "0" "c.573C>T" "r.(?)" "p.(Gly191=)" "" "0000867534" "00000954" "50" "81" "0" "83" "0" "c.81_83dup" "r.(?)" "p.(Gln27dup)" "" "0000867535" "00000954" "30" "864" "0" "864" "0" "c.864C>T" "r.(?)" "p.(Asn288=)" "" "0000867536" "00000954" "50" "3632" "0" "3632" "0" "c.*2216C>T" "r.(=)" "p.(=)" "" "0000879094" "00000954" "90" "457" "0" "457" "0" "c.457C>T" "r.(?)" "p.(Arg153*)" "6" "0000879747" "00000954" "90" "1131" "0" "1131" "0" "c.1131G>A" "r.spl" "p.?" "10" "0000879748" "00000954" "90" "1394" "0" "1394" "0" "c.1394dup" "r.(?)" "p.(Asn466LysfsTer13)" "13" "0000879749" "00000954" "90" "1093" "0" "1093" "0" "c.1093C>T" "r.(?)" "p.(Arg365Ter)" "10" "0000879750" "00000954" "90" "1093" "0" "1093" "0" "c.1093C>T" "r.(?)" "p.(Arg365Ter)" "10" "0000879751" "00000954" "90" "1394" "0" "1394" "0" "c.1394dup" "r.(?)" "p.(Asn466LysfsTer13)" "13" "0000879752" "00000954" "90" "0" "0" "0" "0" "c.-596_(650+49_651-65){0}" "r.0?" "p.0?" "_1_5i" "0000879761" "00000954" "90" "1171" "1" "1171" "1" "c.1171+1G>T" "r.spl" "p.?" "11i" "0000879766" "00000954" "90" "154" "5" "154" "6" "c.154+5_154+6del" "r.154_155ins154+3_154+15" "p.Asn52Serfs*6" "3i" "0000896346" "00000954" "50" "899" "0" "899" "0" "c.899T>C" "r.(?)" "p.(Met300Thr)" "" "0000915756" "00000954" "50" "6347" "0" "6347" "0" "c.*4931C>T" "r.(=)" "p.(=)" "" "0000971308" "00000954" "50" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Arg202Gln)" "" "0000984846" "00000954" "50" "5228" "0" "5228" "0" "c.*3812G>A" "r.(=)" "p.(=)" "" "0001006937" "00000954" "50" "491" "0" "491" "0" "c.491T>C" "r.(?)" "p.(Leu164Pro)" "" "0001006938" "00000954" "50" "1000" "0" "1000" "0" "c.1000G>A" "r.(?)" "p.(Val334Met)" "" "0001006939" "00000954" "50" "5252" "0" "5252" "0" "c.*3836G>A" "r.(=)" "p.(=)" "" "0001022070" "00000954" "50" "944" "-6" "944" "-6" "c.944-6T>G" "r.943_944=" "p.=" "7i" "0001027528" "00000954" "50" "84" "0" "95" "0" "c.84_95dup" "r.(?)" "p.(His28_Gln31dup)" "" "0001044482" "00000954" "50" "5542" "0" "5542" "0" "c.*4126C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000000209" "0000003041" "0000000209" "0000007138" "0000000210" "0000009225" "0000000210" "0000009226" "0000419158" "0000879094" "0000419651" "0000879747" "0000419652" "0000879748" "0000419653" "0000879749" "0000419654" "0000879750" "0000419655" "0000879751" "0000419656" "0000879752" "0000419657" "0000879761" "0000419659" "0000879766" "0000462543" "0001022070"