### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NAA15) # 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}}" "NAA15" "N(alpha)-acetyltransferase 15, NatA auxiliary subunit" "4" "q31.1" "unknown" "NC_000004.11" "UD_145629771957" "" "https://www.LOVD.nl/NAA15" "" "1" "30782" "80155" "608000" "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/NAA15_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2017-08-08 00:00:00" "00006" "2025-03-06 20:03:06" "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}}" "00024901" "NAA15" "N(alpha)-acetyltransferase 15, NatA auxiliary subunit" "003" "NM_057175.3" "" "NP_476516.1" "" "" "" "-256" "5298" "2601" "140222676" "140311935" "00000" "2017-08-08 16:22:56" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06630" "MRD50" "Mental retardation, autosomal dominant 50" "AD" "617787" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NAA15" "00139" "NAA15" "06630" ## Individuals ## Do not remove or alter this header ## ## Count = 50 "{{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}}" "00050566" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00311416" "" "" "" "1" "" "00006" "{PMID:Stessman 2017:28191889}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "AGRE_03C14733" "00311417" "" "" "" "1" "" "00006" "{PMID:Stessman 2017:28191889}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "AGRE_AU031003" "00311418" "" "" "" "1" "" "00006" "{PMID:Stessman 2017:28191889}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Belgium" "" "0" "" "" "" "Antwerp_105005" "00311419" "" "" "" "1" "" "00006" "{PMID:Stessman 2017:28191889}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Belgium" "" "0" "" "" "" "Antwerp_106663" "00327622" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00359593" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00436189" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "268511" "00438307" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat25" "00451709" "" "" "" "1" "" "01164" "" "" "M" "?" "? (unknown)" "" "0" "" "" "" "297403" "00458571" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00461037" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00464070" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00464372" "" "" "" "1" "" "00006" "{PMID:Cheng 2018:29656860}" "proband" "F" "" "Netherlands" "" "0" "" "" "" "Leiden_D1.11.09640" "00464373" "" "" "" "1" "" "00006" "{PMID:Stessman 2017:28191889}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Netherlands" "" "0" "" "" "" "Pat2" "00464374" "" "" "" "1" "" "00006" "{PMID:Cheng 2018:29656860}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat3" "00464375" "" "" "" "1" "" "00006" "{PMID:Cheng 2018:29656860}" "proband" "M" "" "Australia" "" "0" "" "" "" "Gezc_12_4087" "00464376" "" "" "" "1" "" "00006" "{PMID:Stessman 2017:28191889}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "African-American" "?" "00464377" "" "" "" "1" "" "00006" "{PMID:Zaidi 2013:23665959}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "?" "00464378" "" "" "" "2" "" "00006" "{PMID:Longoni 2017:28303347}" "proband" "F" "" "United States" "" "0" "" "" "" "04147-8645" "00464379" "" "" "" "1" "" "00006" "{PMID:Stessman 2017:28191889}" "proband" "F" "" "Australia" "" "0" "" "" "" "Gecz_13098" "00464380" "" "" "" "1" "" "00006" "{PMID:Stessman 2017:28191889}" "family, affected mother/boy and younger brother" "M" "" "Australia" "" "0" "" "" "" "Pat10-1" "00464381" "" "" "" "1" "" "00006" "{PMID:Cheng 2018:29656860}" "younger brother" "M" "" "Australia" "" "0" "" "" "" "Pat10-2" "00464382" "" "" "" "1" "" "00006" "{PMID:Cheng 2018:29656860}" "mother" "F" "" "Australia" "" "0" "" "" "" "Pat10-3" "00464383" "" "" "" "1" "" "00006" "{PMID:Cheng 2018:29656860}" "proband" "M" "" "Australia" "" "0" "" "" "" "Gecz_20_4801" "00464384" "" "" "" "1" "" "00006" "{PMID:Stessman 2017:28191889}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat11A" "00464385" "" "" "" "1" "" "00006" "{PMID:Cheng 2018:29656860}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat12" "00464386" "" "" "" "1" "" "00006" "{PMID:Cheng 2018:29656860}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Canada" "" "0" "" "" "" "Pat13" "00464387" "" "" "" "1" "" "00006" "{PMID:Cheng 2018:29656860}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat14" "00464388" "" "" "" "1" "" "00006" "{PMID:Cheng 2018:29656860}" "proband" "M" "" "Belgium" "" "0" "" "" "" "Antwerp_115149" "00464389" "" "" "" "1" "" "00006" "{PMID:Stessman 2017:28191889}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Australia" "" "0" "" "" "" "Gezc2_34735" "00464390" "" "" "" "1" "" "00006" "{PMID:Stessman 2017:28191889}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat18" "00464391" "" "" "" "1" "" "00006" "{PMID:Cheng 2018:29656860}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "1-00455" "00464392" "" "" "" "1" "" "00006" "{PMID:Zaidi 2013:23665959}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat20" "00464393" "" "" "" "1" "" "00006" "{PMID:Cheng 2018:29656860}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat21" "00464394" "" "" "" "1" "" "00006" "{PMID:Cheng 2018:29656860}" "family, affected father/son" "M" "" "" "" "0" "" "" "" "Pat22-1" "00464395" "" "" "" "1" "" "00006" "{PMID:Cheng 2018:29656860}" "father" "M" "" "" "" "0" "" "" "" "Pat22-2" "00464396" "" "" "" "1" "" "00006" "{PMID:Cheng 2018:29656860}" "proband" "M" "" "Australia" "" "0" "" "" "" "Gezc_15_341" "00464397" "" "" "" "1" "" "00006" "{PMID:Stessman 2017:28191889}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat25" "00464398" "" "" "" "1" "" "00006" "{PMID:Cheng 2018:29656860}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat26" "00464399" "" "" "" "1" "" "00006" "{PMID:Cheng 2018:29656860}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat27" "00464400" "" "" "" "1" "" "00006" "{PMID:Cheng 2018:29656860}" "family, affected mother/2 daughters" "F" "" "Netherlands" "" "0" "" "" "" "Pat28-1" "00464401" "" "" "" "1" "" "00006" "{PMID:Cheng 2018:29656860}" "sister" "F" "" "Netherlands" "" "0" "" "" "" "Leiden_D2.11.05195" "00464402" "" "" "" "1" "" "00006" "{PMID:Stessman 2017:28191889}" "mother" "F" "" "Netherlands" "" "0" "" "" "" "Pat28-3" "00464403" "" "" "" "1" "" "00006" "{PMID:Cheng 2018:29656860}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat30" "00464404" "" "" "" "1" "" "00006" "{PMID:Cheng 2018:29656860}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat31" "00464405" "" "" "" "1" "" "00006" "{PMID:Cheng 2018:29656860}" "proband" "M" "" "Italy" "" "0" "" "" "" "Troina_3211" "00464406" "" "" "" "1" "" "00006" "{PMID:Stessman 2017:28191889}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DECIPHER:332240" "00464407" "" "" "" "1" "" "00006" "{PMID:Cheng 2018:29656860}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00464579" "" "" "" "1" "" "01164" "" "" "F" "no" "? (unknown)" "" "0" "" "" "" "323116" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 50 "{{individualid}}" "{{diseaseid}}" "00050566" "00198" "00311416" "00198" "00311417" "00198" "00311418" "00198" "00311419" "00198" "00327622" "00198" "00359593" "00198" "00436189" "06630" "00438307" "04270" "00451709" "06630" "00458571" "05611" "00461037" "00198" "00464070" "00139" "00464372" "00139" "00464373" "00139" "00464374" "00139" "00464375" "00139" "00464376" "00139" "00464377" "00139" "00464378" "00139" "00464379" "00139" "00464380" "00139" "00464381" "00139" "00464382" "00139" "00464383" "00139" "00464384" "00139" "00464385" "00139" "00464386" "00139" "00464387" "00139" "00464388" "00139" "00464389" "00139" "00464390" "00139" "00464391" "00139" "00464392" "00139" "00464393" "00139" "00464394" "00139" "00464395" "00139" "00464396" "00139" "00464397" "00139" "00464398" "00139" "00464399" "00139" "00464400" "00139" "00464401" "00139" "00464402" "00139" "00464403" "00139" "00464404" "00139" "00464405" "00139" "00464406" "00139" "00464407" "00139" "00464579" "06630" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 04270, 05611, 06630 ## Count = 49 "{{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}}" "0000037178" "00198" "00050566" "00006" "Isolated (sporadic)" "" "intellectual disability, high forehead, dental crowding, hypopigmented skin patches" "" "" "" "" "" "" "" "" "" "" "" "0000236663" "00198" "00311416" "00006" "Isolated (sporadic)" "17y" "see paper; ..., (growth parameters); normal motor abilities; autism spectrum disorder (HP:0000729); delayed speech (HP:0000750)" "7.5y" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000236664" "00198" "00311417" "00006" "Isolated (sporadic)" "12y" "see paper; ..., (growth parameters); low average range motor abilities (Vineland motor skills standard score of 84), fine motor difficulties noted; intellectual disability (HP:0001249), adaptive functioning in very low range (composite score on the Vineland = 21); autism spectrum disorder (HP:0000729), 2y-behavior problems (irritability, pica); delayed speech (HP:0000750), 2y-first words, 4y-phrases uses some single words/phrases; no seizures; skin abnormalities (type unspecified), history of frequent ear infections, 2y-sleep problems (difficulty falling asleep, interrupted sleep), sensory differences include tactile sensory seeking (e.g., pressure), auditory sensitivities" "09y" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000236665" "00198" "00311418" "00006" "Isolated (sporadic)" "02y04m" "see paper; ..., (growth parameters); no feeding difficulties; global developmental delay (HP:0001263); global developmental delay (HP:0001263); aggressive behavior (HP:0000718), traits of Noonan syndrome, possible autism spectrum disorder; global developmental delay (HP:0001263); no seizures; MRI brain normal; normal muscle tone; unilateral cryptorchidia (HP:0012741), ptosis (HP:0000508) left eye, mild hypertelorism (HP:0000316), flat philtrum (HP:0000319), low set ears (HP:0000369); no cardiavacular anomalies; mild pectus carinatum upper side (HP:0000917), excavatum below (HP:0000915);" "8.5m" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000236666" "00198" "00311419" "00006" "Isolated (sporadic)" "31y" "see paper; ..., (growth parameters); intellectual disability (HP:0001249); autism spectrum disorder (HP:0000729); no seizures; 3 pre-auricular tags (HP:0000384) on right side; no skeletal anomalies; normal connective tissue; behavioral problems" "" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000245867" "00198" "00327622" "01807" "Unknown" "" "Rod-cone dystrophy (HP:0000510); Hypothyroidism (HP:0000821); Global developmental delay (HP:0001263); Congenital stationary night blindness (HP:0007642); Schizophrenia (HP:0100753)" "" "" "" "" "" "" "" "" "" "" "" "0000254865" "00198" "00359593" "01807" "Unknown" "" "Hypotelorism (HP:0000601); Global developmental delay (HP:0001263); Postnatal microcephaly (HP:0005484)" "" "" "" "" "" "" "" "" "" "" "" "0000326369" "06630" "00436189" "01164" "Isolated (sporadic)" "05y" "Intellectual disability, Behavioral problems, Motor delay" "" "" "" "" "" "" "" "" "" "" "" "0000328211" "04270" "00438307" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0001249 intellectual disability; HP:0001252 muscular hypotonia" "9m" "" "" "" "" "" "" "" "" "epilepsy" "" "0000340369" "06630" "00451709" "01164" "Unknown" "03y" "Global developmental delay, Autistic behavior" "" "" "" "" "" "" "" "" "" "" "" "0000347002" "05611" "00458571" "03544" "Isolated (sporadic)" "" "HP:0001249, HP:0000750, HP:0000331, HP:0001260, HP:0030051" "" "" "" "" "" "" "" "" "MRD50" "neurodevelopmental disorder" "" "0000350132" "00139" "00464070" "03544" "Isolated (sporadic)" "" "HP:0000717, HP:0000177, HP:0000736, HP:0000750? HP:0001256, HP:0001263, HP:0002342, HP:0002360, HP:0002487, HP:0010862, HP:0012758, HP:0100851" "" "" "" "" "" "" "" "" "MRD50" "complex neurodevelopmental disorder" "" "0000350395" "00139" "00464372" "00006" "Unknown" "22y" "see paper; ..., (growth parameters); global developmental delay (HP:0001263); moderate intellectual disability (HP:0002342); autism spectrum disorder (HP:0000729); MRI brain normal; mild dysmorphic features (HP:0001999), small earcups; cutis marmorata (HP:0000965)" "1y" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350396" "00139" "00464373" "00006" "Isolated (sporadic)" "17y" "see paper; ..., (growth parameters); mild ataxia (HP:0001251); moderate intellectual disability (HP:0002342) (TIQ 51); autism spectrum disorder (HP:0000729); difficulty speech (HP:0002465); no seizures; MRI brain moderate cerebellar atrophy (HP:0001272), thin corpus callosum (HP:0002079),mild atrophy of the left hippocampus (HP:0007367); hypertonia (HP:0001276); hypertelorism (HP:0000316), low-set ears (HP:0000369), overfolded helices (HP:0000396), brachycephaly (HP:0000248), broad nose tip (HP:0000455), prominent upper lip (HP:0000215), fetal pads on fingertips (HP:0001212); atrial ectopic (multifocal) tachycardia (HP:0011701) treated with verapamil, hypertension (HP:0000822); easy fatiguability (HP:0003388)" "12y" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350397" "00139" "00464374" "00006" "Isolated (sporadic)" "6y" "see paper; ..., (growth parameters); abnormality of movement (HP:0100022), delayed; moderate intellectual disability (HP:0002342); poor attention; delayed verbal; no seizures; MRI brain normal; hypotonia (HP:0001290); ventricular septal defect repaired by surgery in infancy; clinodactyly feet (HP:0001863); profound perspiration from birth" "" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350398" "00139" "00464375" "00006" "Unknown" "7y" "see paper; ..., (growth parameters); motor delay (HP:0001270); autism spectrum disorder (HP:0000729); sign language; wide low nasal root, telecanthus, long philtrum, small mouth, long ears, inverted nipples, 4 café au lait spots.;" "1.5y" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350399" "00139" "00464376" "00006" "Isolated (sporadic)" "6y" "see paper; ..., (growth parameters); global developmental delay (HP:0001263); moderate intellectual disability (HP:0002342); autism spectrum disorder (HP:0000729); absent speech (HP:0001344); no seizures; MRI brain normal; mild dysmorphia (HP:0001999);" "5y" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350400" "00139" "00464377" "00006" "Isolated (sporadic)" "1.5y" "see paper; ..., (growth parameters); mild delay in motor skills; mild delay in cognition; autism spectrum disorder (HP:0000729); delayed speech (HP:0000750); no seizures; no facial dysmorphism; no cardiavacular anomalies; no skeletal anomalies; normal connective tissue; congenital diaphragmatic hernia (HP:0000776) (bochdalek, left sided), lung hypoplasia (HP:0002089), extracorporeal membrane oxygenation (ECMO); positional plagiocephaly, mild torticollis resolved with helmet" "<0d" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350401" "00139" "00464378" "00006" "Unknown" "8y" "see paper; ..., (growth parameters); motor delay (HP:0001270); moderate intellectual disability (HP:0002342); autism spectrum disorder (HP:0000729); delayed speech (HP:0000750); no seizures;" "" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350402" "00139" "00464379" "00006" "Unknown" "13y" "see paper; ..., (growth parameters); 3y-difficulties with solid food, now resolved; global developmental delay (HP:0001263); global developmental delay (HP:0001263); autism spectrum disorders (HP:0000729), highly anxious, uncomfortable with touch; absent speech (HP:0001344), babbling only; no seizures; MRI brain normal; low mucle tone; no cardiavacular anomalies; no skeletal anomalies; normal connective tissue; externally rotated left leg. toe-walks, hyperextends knees, decreasing exercise tolerance" "" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350403" "00139" "00464380" "00006" "Familial, autosomal dominant" "17y" "see paper; ..., (growth parameters); initial feeding difficulties; motor delay (HP:0001270),9m- rolled, 1y-sit, 1y-crawl, 2y-walk; mild intellectual disability (HP:0001256); autism spectrum disorders (HP:0000729), ADHD, depression, anxiety; delayed speech (HP:0000750), able to speak in sentences; childhood onset \'atypical absence\' seizures, now weaned off medication and seizure-free; infantile period low mucle tone, ormal tone in adolescence; mild: long narrow head, mild retrognathia, malar hypoplasia, high narrow palate, broad single uvula; no cardiavacular anomalies; flexible joints but not clinically hypermobile (Beighton score 2/9). Increased carrying angle elbow; pes planus with hindfoot deformity;" "2y" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350404" "00139" "00464381" "00006" "Familial, autosomal dominant" "5y" "see paper; ..., (growth parameters); initial feeding difficulties; motor delay (HP:0001270), 18m-walk, 2y still clumsy; moderate intellectual disability (HP:0002342); autism spectrum disorder (HP:0000729); delayed speech (HP:0000750); one febrile convulsion; normal muscle tone; pointed chin, fleshy upturned ear lobes; no cardiavacular anomalies; attention deficit" "1y" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350405" "00139" "00464382" "00006" "Unknown" "40y" "see paper; ..., (growth parameters); social anxiety, specific learning difficulties (HP:0001328); very shy in childhood, restricted interests, history of depression; delayed speech (HP:0000750); no seizures; normal muscle tone; mild retrognathia,malar hypoplasia; no cardiavacular anomalies;" "" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350406" "00139" "00464383" "00006" "Unknown" "11y" "see paper; ..., (growth parameters); mild-borderline intellectual disability; ADHD; normal muscle tone; no facial dysmorphism; no cardiavacular anomalies; no skeletal anomalies; normal connective tissue; marked hypersomnolence in early years, upper airway obstruction, central and obstructive sleep apnoea" "" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350407" "00139" "00464384" "00006" "Isolated (sporadic)" "12y" "see paper; ..., (growth parameters); mild-moderate intellectual disability, 9y9m-TIQ was 54 (VIQ 67 and PIQ<55); anxiety; delayed speech (HP:0000750); normal muscle tone; no facial dysmorphism; no cardiavacular anomalies; no skeletal anomalies; normal connective tissue;" "" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350408" "00139" "00464385" "00006" "Isolated (sporadic)" "7.5y" "see paper; ..., (growth parameters); food sensory issues; impulsive inpatient, short attention span, cannot focus, some self-injuries; autism spectrum disorder (HP:0000729), short attention span (HP:0000736), self-injurious behavior (HP:0100716); delayed speech (HP:0000750), 5y-first, around 100 words; three seizure episodes (possibly petit mal); MRI brin stable left periventricular subependymal nodule, left parietal subcortical/cortical lesion, likely subcortical hamartomatous lesion as seen in tuberous sclerosis; no facial dysmorphism; incontinentia pigmenti, broad-based gait (HP:0002136); tuberous sclerosis complex (no TSC1/TSC2 variants), constipation (HP:0002019)," "" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350409" "00139" "00464386" "00006" "Isolated (sporadic)" "4y" "see paper; ..., (growth parameters); failure to thrive (HP:0001508); motor delay (HP:0001270), 18m-crawl, 2y-walked, 4y-jump, fine motor difficulties noted; profound global developmental delay (HP:0001263); autism spectrum disorder (HP:0000729); speech delay (HP:0000750), 4y-no words; no seizures; MRI brain normal; normal muscle tone; no facial dysmorphism; no cardiavacular anomalies; no skeletal anomalies; normal connective tissue; eczema, mild zinc deficiency and multiple allergies (dairy, eggs, peas, bananas and lentils)" "" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350410" "00139" "00464387" "00006" "Isolated (sporadic)" "4y" "see paper; ..., (growth parameters); no feeding difficulties; normal motor abilities, 12m-walk, <4y-cycled; moderate intellectual disability (HP:0002342); autism spectrum disorder (HP:0000729); delayed speech (HP:0000750); no seizures; normal muscle tone; no facial dysmorphism;" "" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350411" "00139" "00464388" "00006" "Unknown" "7y" "see paper; ..., (growth parameters); no feeding difficulties; gross and fine motor difficulties, 6.5m-craw, 13m-walk; intellectual disability (HP:0001249), SON-IQ 72, SON-RS 79, SON-PS 72: harmonic IQ profile; autism spectrum disorder (HP:0000729); delayed speech (HP:0000750); episode of trichotillomania" "4y" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350412" "00139" "00464389" "00006" "Isolated (sporadic)" "18y" "see paper; ..., (growth parameters); no feeding difficulties; normal gross motor abilities, poor fine motor motor abilities; Intellectual disability (HP:0001249); autism spectrum disorder (HP:0000729); basic speech, 1.5y-11 words, then lost speech, gradually returned; no seizures; normal muscle tone; prominent forehead, mild retrognathia; aortic root at upper limit of normal (35 mm), otherwise normal LV and valves; marfanoid habitus, striae" "1.5y" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350413" "00139" "00464390" "00006" "Isolated (sporadic)" "10y" "see paper; ..., (growth parameters); no feeding difficulties; motor delay (HP:0001270), 9m-crawl, 16m-walk, fine motor difficulties noted; moderate intellectual disability (HP:0002342), WISC-IV, NEPSY-II, Trog-2, VMI, Vineland-II below 2SD; happy personality, social, kind, helpful, but ten-dency to over-positive behaviour, seeks contact with adults, very easy to lead; delayed speech (HP:0000750), 5y-3-4 words in sentences at 5y, 14y-complete sentences; no seizures; mild facial dysmorphism (HP:0001999), resemble facial features NAA10 cases reported by Popp 2015; no cardiavacular anomalies, no heart defect or signs of cardiomyopathy; no skeletal anomalies; normal connective tissue;" "1m" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350414" "00139" "00464391" "00006" "Isolated (sporadic)" "8y" "see paper; ..., (growth parameters); no feeding difficulties; 2y-delayed walking; learning issues; normal behaviour; speech issues; no seizures; hypotonia (HP:0001290); no facial dysmorphism; complex heterotaxy congenital heart disease with DORV, hypoplastic RV, left SVC/IVC, tricuspid atresia, severe PS, TAPVR; no skeletal anomalies; normal connective tissue; midline liver" "<0d" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350415" "00139" "00464392" "00006" "Isolated (sporadic)" "11y" "see paper; ..., (growth parameters); initial feeding difficulties; motor delay (HP:0001270), 18m-walk; no seizures; no facial dysmorphism; no cardiavacular anomalies; eczema; obesity (HP:0001513)" "" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350416" "00139" "00464393" "00006" "Isolated (sporadic)" "8.25y" "see paper; ..., (growth parameters); failure to thrive (HP:0001508); motor delay (HP:0001270), 10m-rol, 12m-site, 17m-walk; intellectual disability (HP:0001249), 8y3m-able to read, knows some sight words, writes name; normal behaviour; delayed speech (HP:0000750), 2.5y-first word, 4y-sentences; 13m-seizures (HP:0001250) possibly related to medications receiving; MRI brain normal; hypotonia (HP:0001290); esotropia (HP:0000565), wear glasses; esay bruising (HP:0000978); prematurity (birth 34w with twin sister), eye anomalies, atypical migranes, mild hypoglacemia, constipation, emesis, abdominal distention, intestinal dysmotility" "" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350417" "00139" "00464394" "00006" "Familial, autosomal dominant" "4.5y" "see paper; ..., (growth parameters); motor delay (HP:0001270), 8m-sit, 18m-walk; moderate intellectual disability (HP:0002342); hetero-aggressivness (HP:0000718), hyperactivity (HP:0000752), mild autistic features (HP:0000729); speech delay (HP:0000750), 5-10 words; no seizures; hypotonia (HP:0001290); mild facial dysmorphism (HP:0001999), small mouth (HP:0000160), low set ears (HP:0000369); no skeletal anomalies; normal connective tissue; father is mildly affected father (2y-walk, speech delay, low IQ)" "3y4m" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350418" "00139" "00464395" "00006" "Unknown" "31y" "see paper; ..., (growth parameters); no feeding difficulties; motor delay (HP:0001270), 2y-walk; normal cognitive abilities, likely low IQ; mild autistic features (HP:0000729); delayed speech (HP:0000750), 4y-sentences; no seizures; normal muscle tone; mild facial dysmorphism (HP:0001999), small mouth (HP:0000160), low set ears (HP:0000369); no skeletal anomalies; normal connective tissue; hypermetropia and strabismus" "" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350419" "00139" "00464396" "00006" "Unknown" "14y" "see paper; ..., (growth parameters); fine motor coordination problems; intellectual disability; mild speech delay (HP:0000750); seizures; no facial dysmorphism; inguinal hernia" "9m" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350420" "00139" "00464397" "00006" "Isolated (sporadic)" "12.5y" "see paper; ..., (growth parameters); motor delay (HP:0001270); global developmental delay (HP:0001263); autism spectrum disorder (HP:0000729); speech delay (HP:0000750), 4y-20 words; 4y-seizures (HP:0001250); MRI brain normal; normal muscle tone; no facial dysmorphism; no cardiavacular anomalies; no skeletal anomalies; normal connective tissue; constipation, lennox-gastaut syndrome with multiple tonic seizure" "2y" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350421" "00139" "00464398" "00006" "Isolated (sporadic)" "18y" "see paper; ..., (growth parameters); global developmental delay (HP:0001263); moderate intellectual disability (HP:0002342); global developmental delay (HP:0001263); hypertelorism (HP:0000316), flat broad nosebridge (HP:0000431);" "1y" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350422" "00139" "00464399" "00006" "Isolated (sporadic)" "8y" "see paper; ..., (growth parameters); motor delay (HP:0001270), 2y-walk; moderate-severe intellectual disability; parental concerns on autism spectrum disorder; speech delay (HP:0000750, 8y-short sentances; no seizures; normal muscle tone; straight eyebrows, square jaw but looks similar to mother/sister; no cardiavacular anomalies; patellar dislocation (HP:0002999), sarcoral dimple (HP:0000960), talipes (HP:0001883); premature adenarche, anteriorly placed anus (HP:0001545)" "<0d" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350423" "00139" "00464400" "00006" "Familial, autosomal dominant" "15y" "see paper; ..., (growth parameters); motor delay; moderate intellectual disability (HP:0002342) (IQ50); autism spectrum disorder (HP:0000729); speech delay; no seizures; normal muscle tone; no facial dysmorphism; hypermobility, partial syndactyly in one hand;" "" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350424" "00139" "00464401" "00006" "Familial, autosomal dominant" "12y" "see paper; ..., (growth parameters); motor delay (HP:0001270); moderate intellectual disability (HP:0002342) (IQ50); autism spectrum disorder (HP:0000729); no facial dysmorphism;" "2y" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350425" "00139" "00464402" "00006" "Unknown" "45y" "see paper; ..., (growth parameters); mild intellectual disability (HP:0001256), IQ70; normal behaviour; no speech delay; no seizures; normal muscle tone; no facial dysmorphism;" "" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350426" "00139" "00464403" "00006" "Isolated (sporadic)" "7y" "see paper; ..., (growth parameters); multiple food allergies with eczema; motor delay (HP:0001270), 3y-walk; Moderate intellectual disability (HP:0002342) (IQ50); 7y-stereotypy (HP:0000733) stopped; speech delay (HP:0000750), 7y-2-3 word sentences; no seizures; MRI brain normal; neonatal hypotonia; straight eyebrows, depressed nasal bridge; no cardiavacular anomalies; no skeletal anomalies; normal connective tissue;" "2y" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350427" "00139" "00464404" "00006" "Isolated (sporadic)" "2y" "see paper; ..., (growth parameters); motor delay (HP:0001270); Moderate intellectual disability (HP:0002342) (IQ50); implusive (HP:0100710) and obsessive; speech delay (HP:0000750); no seizures; normal muscle tone; epicanthus inversus (HP:0000537), smooth philtrum (HP:0000319); no cardiavacular anomalies; no skeletal anomalies; normal connective tissue; prematurity" "1y" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350428" "00139" "00464405" "00006" "Unknown" "6y" "see paper; ..., (growth parameters); motor delay (HP:0001270), 10m-sit, 2y-walk; intellectual disability (HP:0001249); autism spectrum disorder (HP:0000729); delayed (HP:0000750), 30m-first words; MRI brain normal;" "" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350429" "00139" "00464406" "00006" "Isolated (sporadic)" "35y" "see paper; ..., 35y-deceased; mild intellectual disability; 3y-developmental delay, 18m-walk; delayed speech, 2y-single word; MRI brain normal; special school for children with moderate learning difficulties; adult able to live alone with support; 25y-testicular carcinoma; 31y-type II diabetes; hypersensitive" "3y4m" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350430" "00139" "00464407" "00006" "Isolated (sporadic)" "31y" "see paper; ..., mild intellectual disability, mild dysmorphic features, motor delay childhood, low birth weight (-2SD); low adult height/weightOFC (10th centile); poor vision, cortical visual impairment" "" "" "" "" "" "" "" "" "MRD50" "intellectual disability" "" "0000350565" "06630" "00464579" "01164" "Isolated (sporadic)" "13y" "Delayed speech and language development, Neurodevelopmental delay, Febrile seizure (within the age range of 3 months to 6 years), Developmental regression" "02y" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 50 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050511" "00050566" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000312586" "00311416" "1" "00006" "00006" "2020-09-24 19:42:42" "" "" "SEQ;SEQ-NG" "DNA" "" "208 candidate gene panel" "0000312587" "00311417" "1" "00006" "00006" "2020-09-24 19:42:42" "" "" "SEQ;SEQ-NG" "DNA" "" "208 candidate gene panel" "0000312588" "00311418" "1" "00006" "00006" "2020-09-24 19:42:42" "" "" "SEQ;SEQ-NG" "DNA" "" "208 candidate gene panel" "0000312589" "00311419" "1" "00006" "00006" "2020-09-24 19:42:42" "" "" "SEQ;SEQ-NG" "DNA" "" "208 candidate gene panel" "0000328836" "00327622" "1" "01807" "01807" "2021-01-25 10:38:01" "" "" "SEQ" "DNA" "" "" "0000360823" "00359593" "1" "01807" "01807" "2021-03-29 10:06:01" "" "" "SEQ" "DNA" "" "" "0000437672" "00436189" "1" "01164" "01164" "2023-08-31 12:50:13" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000439789" "00438307" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000453313" "00451709" "1" "01164" "01164" "2024-07-02 16:09:33" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000460192" "00458571" "1" "03544" "03544" "2024-12-19 07:08:17" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000462669" "00461037" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" "0000465701" "00464070" "1" "03544" "03544" "2025-02-20 13:39:48" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000466007" "00464372" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466008" "00464373" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466009" "00464374" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466010" "00464375" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466011" "00464376" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466012" "00464377" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466013" "00464378" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466014" "00464379" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466015" "00464380" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466016" "00464381" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466017" "00464382" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466018" "00464383" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466019" "00464384" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466020" "00464385" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466021" "00464386" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466022" "00464387" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466023" "00464388" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466024" "00464389" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466025" "00464390" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466026" "00464391" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466027" "00464392" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466028" "00464393" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466029" "00464394" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466030" "00464395" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466031" "00464396" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466032" "00464397" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466033" "00464398" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466034" "00464399" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466035" "00464400" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466036" "00464401" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466037" "00464402" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466038" "00464403" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466039" "00464404" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466040" "00464405" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466041" "00464406" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466042" "00464407" "1" "00006" "00006" "2025-03-08 17:44:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000466220" "00464579" "1" "01164" "01164" "2025-03-31 10:45:52" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000312586" "NAA15" "0000312587" "NAA15" "0000312588" "NAA15" "0000312589" "NAA15" "0000437672" "NAA15" "0000453313" "NAA15" "0000462669" "NAA15" "0000466220" "NAA15" ## 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 = 94 "{{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}}" "0000079491" "0" "90" "4" "138380676" "143756744" "del" "0" "00006" "RAB33B_000002" "g.138380676_143756744del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000256563" "0" "70" "4" "140258025" "140258025" "del" "0" "01943" "NAA15_000002" "g.140258025del" "" "" "" "NAA15(NM_057175.4):c.163delA (p.T55Hfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139336871del" "" "likely pathogenic" "" "0000330130" "0" "50" "4" "140265464" "140265464" "subst" "0" "01804" "NAA15_000003" "g.140265464G>A" "" "" "" "NAA15(NM_057175.3):c.662G>A (p.(Cys221Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139344310G>A" "" "VUS" "" "0000330133" "0" "30" "4" "140278583" "140278583" "subst" "0" "01804" "NAA15_000005" "g.140278583G>T" "" "" "" "NAA15(NM_057175.3):c.1131G>T (p.(Gln377His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139357429G>T" "" "likely benign" "" "0000330134" "0" "50" "4" "140291452" "140291452" "del" "0" "01804" "NAA15_000006" "g.140291452del" "" "" "" "NAA15(NM_057175.3):c.1834del (p.?), NAA15(NM_057175.5):c.1841delA (p.N614Mfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139370298del" "" "VUS" "" "0000521713" "0" "70" "4" "140278619" "140278622" "del" "0" "01943" "NAA15_000010" "g.140278619_140278622del" "" "" "" "NAA15(NM_057175.4):c.1167_1170delGCCA (p.Q389Hfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139357465_139357468del" "" "likely pathogenic" "" "0000521714" "0" "90" "4" "140282983" "140282983" "subst" "0" "01943" "NAA15_000011" "g.140282983C>T" "" "" "" "NAA15(NM_057175.4):c.1645C>T (p.R549*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139361829C>T" "" "pathogenic" "" "0000521715" "0" "90" "4" "140291391" "140291391" "subst" "0" "02329" "NAA15_000012" "g.140291391A>T" "" "" "" "NAA15(NM_057175.5):c.1780A>T (p.K594*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139370237A>T" "" "pathogenic" "" "0000521716" "0" "90" "4" "140291437" "140291441" "del" "0" "02325" "NAA15_000013" "g.140291437_140291441del" "" "" "" "NAA15(NM_057175.5):c.1826_1830delAAGAA (p.E609Gfs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139370283_139370287del" "" "pathogenic" "" "0000521717" "0" "90" "4" "140291452" "140291452" "del" "0" "02329" "NAA15_000006" "g.140291452del" "" "" "" "NAA15(NM_057175.3):c.1834del (p.?), NAA15(NM_057175.5):c.1841delA (p.N614Mfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139370298del" "" "pathogenic" "" "0000521718" "0" "50" "4" "140297601" "140297601" "subst" "0" "02327" "NAA15_000014" "g.140297601T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139376447T>C" "" "VUS" "" "0000521719" "0" "30" "4" "140307334" "140307334" "subst" "0.00014729" "01804" "NAA15_000015" "g.140307334A>G" "" "" "" "NAA15(NM_057175.3):c.2350A>G (p.(Ile784Val)), NAA15(NM_057175.4):c.2350A>G (p.I784V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139386180A>G" "" "likely benign" "" "0000609078" "0" "70" "4" "140275254" "140275254" "subst" "0" "02327" "NAA15_000017" "g.140275254T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139354100T>C" "" "likely pathogenic" "" "0000609079" "0" "90" "4" "140307328" "140307328" "subst" "0" "01943" "NAA15_000018" "g.140307328C>T" "" "" "" "NAA15(NM_057175.4):c.2344C>T (p.R782*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139386174C>T" "" "pathogenic" "" "0000621359" "0" "30" "4" "140272383" "140272383" "subst" "0.000195677" "01943" "NAA15_000016" "g.140272383T>G" "" "" "" "NAA15(NM_057175.4):c.850T>G (p.W284G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139351229T>G" "" "likely benign" "" "0000655100" "0" "50" "4" "140262070" "140262070" "subst" "0" "01804" "NAA15_000019" "g.140262070G>T" "" "" "" "NAA15(NM_057175.3):c.249G>T (p.(Trp83Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139340916G>T" "" "VUS" "" "0000655101" "0" "70" "4" "140272692" "140272692" "subst" "0" "01943" "NAA15_000020" "g.140272692T>C" "" "" "" "NAA15(NM_057175.4):c.941T>C (p.L314P), NAA15(NM_057175.5):c.941T>C (p.L314P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139351538T>C" "" "likely pathogenic" "" "0000655102" "0" "70" "4" "140291529" "140291529" "subst" "0" "02327" "NAA15_000021" "g.140291529G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139370375G>T" "" "likely pathogenic" "" "0000694186" "0" "90" "4" "140258090" "140258094" "del" "0" "00006" "NAA15_000007" "g.140258090_140258094del" "" "{PMID:Stessman 2017:28191889}" "" "" "" "De novo" "" "" "0" "" "" "g.139336936_139336940del" "" "pathogenic (dominant)" "" "0000694187" "0" "90" "4" "140264109" "140264110" "del" "0" "00006" "NAA15_000022" "g.140264109_140264110del" "" "{PMID:Stessman 2017:28191889}" "" "" "" "De novo" "" "" "0" "" "" "g.139342955_139342956del" "" "pathogenic (dominant)" "" "0000694188" "0" "90" "4" "140283033" "140283033" "subst" "0" "00006" "NAA15_000023" "g.140283033T>A" "" "{PMID:Stessman 2017:28191889}" "" "" "" "De novo" "" "" "0" "" "" "g.139361879T>A" "" "pathogenic (dominant)" "" "0000694189" "0" "90" "4" "140299939" "140299939" "subst" "0" "00006" "NAA15_000024" "g.140299939A>T" "" "{PMID:Stessman 2017:28191889}" "" "" "" "De novo" "" "" "0" "" "" "g.139378785A>T" "" "pathogenic (dominant)" "" "0000704146" "0" "50" "4" "140264003" "140264003" "subst" "0" "03779" "NAA15_000025" "g.140264003G>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000712957" "0" "70" "4" "140299908" "140299908" "subst" "0" "01807" "NAA15_000026" "g.140299908A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000719765" "0" "30" "4" "140272393" "140272393" "subst" "4.07468E-6" "02327" "NAA15_000027" "g.140272393A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719766" "0" "90" "4" "140272737" "140272737" "subst" "0" "02329" "NAA15_000028" "g.140272737T>G" "" "" "" "NAA15(NM_057175.5):c.986T>G (p.L329*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000719767" "0" "30" "4" "140307334" "140307334" "subst" "0.00014729" "01943" "NAA15_000015" "g.140307334A>G" "" "" "" "NAA15(NM_057175.3):c.2350A>G (p.(Ile784Val)), NAA15(NM_057175.4):c.2350A>G (p.I784V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000760927" "0" "70" "4" "140306135" "140306150" "del" "0" "01807" "NAA15_000029" "g.140306135_140306150del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.139384981_139384996del" "" "likely pathogenic" "" "0000801518" "0" "30" "4" "140291417" "140291417" "subst" "0" "01943" "NAA15_000030" "g.140291417T>C" "" "" "" "NAA15(NM_057175.4):c.1806T>C (p.A602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000830989" "0" "90" "4" "140258101" "140258102" "del" "4.33606E-6" "03779" "NAA15_000008" "g.140258101_140258102del" "" "" "" "" "" "CLASSIFICATION record" "" "rs779009256" "0" "" "" "" "" "pathogenic" "" "0000850530" "0" "70" "4" "140255326" "140255326" "del" "0" "02327" "NAA15_000031" "g.140255326del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000850531" "0" "50" "4" "140280991" "140280991" "subst" "0" "02327" "NAA15_000032" "g.140280991A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886141" "0" "90" "4" "140258090" "140258094" "del" "0" "02329" "NAA15_000007" "g.140258090_140258094del" "" "" "" "NAA15(NM_057175.5):c.228_232delCTTGA (p.D76Efs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000886142" "0" "50" "4" "140272692" "140272692" "subst" "0" "02325" "NAA15_000020" "g.140272692T>C" "" "" "" "NAA15(NM_057175.4):c.941T>C (p.L314P), NAA15(NM_057175.5):c.941T>C (p.L314P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886143" "0" "90" "4" "140291409" "140291409" "subst" "0" "02329" "NAA15_000033" "g.140291409A>T" "" "" "" "NAA15(NM_057175.5):c.1798A>T (p.R600*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912057" "0" "90" "4" "140262066" "140262091" "dup" "0" "02325" "NAA15_000034" "g.140262066_140262091dup" "" "" "" "NAA15(NM_057175.5):c.245-3_245-2insAGGTTGGCACGTTTATGGCCTTCTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912058" "0" "10" "4" "140283103" "140283103" "del" "0.212735" "02325" "NAA15_000035" "g.140283103del" "" "" "" "NAA15(NM_057175.5):c.1753+12delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000919619" "0" "90" "4" "140272760" "140272763" "del" "0" "03779" "NAA15_000036" "g.140272760_140272763del" "" "" "" "" "" "Unknown" "" "rs1553996086" "0" "" "" "" "" "pathogenic" "" "0000924063" "0" "90" "4" "140262148" "140262148" "subst" "0" "02325" "NAA15_000037" "g.140262148G>A" "" "" "" "NAA15(NM_057175.5):c.327G>A (p.W109*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000924064" "0" "70" "4" "140291484" "140291484" "subst" "0" "02327" "NAA15_000038" "g.140291484A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000924065" "0" "70" "4" "140307388" "140307388" "subst" "0" "02327" "NAA15_000039" "g.140307388A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000928871" "0" "50" "4" "140270643" "140270643" "subst" "0" "02325" "NAA15_000040" "g.140270643T>G" "" "" "" "NAA15(NM_057175.5):c.719T>G (p.L240W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928872" "0" "70" "4" "140306135" "140306135" "subst" "0" "02327" "NAA15_000041" "g.140306135A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000933024" "0" "70" "4" "140258101" "140258102" "del" "4.33606E-6" "01164" "NAA15_000008" "g.140258101_140258102del" "" "PMID: 28303347, 34210367" "" "" "ACMG: PVS1, PS2, PM2_SUP" "De novo" "-" "" "0" "" "" "g.139336947_139336948del" "" "pathogenic (dominant)" "ACMG" "0000935918" "0" "70" "4" "140291397" "140291397" "subst" "0" "00006" "NAA15_000042" "g.140291397C>T" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PS2,PM2,PM6,PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.139370243C>T" "" "likely pathogenic (dominant)" "ACMG" "0000963021" "0" "30" "4" "140299906" "140299906" "subst" "0.00104523" "02325" "NAA15_000043" "g.140299906A>G" "" "" "" "NAA15(NM_057175.5):c.2057-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976135" "0" "50" "4" "140262087" "140262087" "subst" "0" "02327" "NAA15_000044" "g.140262087T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000987905" "0" "70" "4" "140255345" "140255345" "dup" "0" "01164" "NAA15_000045" "g.140255345dup" "" "" "" "" "ACMG: PVS1, PS2_SUP, PM2_SUP" "De novo" "-" "" "0" "" "" "g.139334191dup" "" "pathogenic (dominant)" "ACMG" "0000994091" "0" "30" "4" "140280924" "140280924" "subst" "0" "01804" "NAA15_000046" "g.140280924A>G" "" "" "" "NAA15(NM_057175.3):c.1285A>G (p.(Arg429Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994092" "0" "30" "4" "140283079" "140283079" "subst" "2.85864E-5" "01804" "NAA15_000047" "g.140283079G>A" "" "" "" "NAA15(NM_057175.3):c.1741G>A (p.(Glu581Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994093" "0" "30" "4" "140307349" "140307349" "subst" "0" "01804" "NAA15_000048" "g.140307349A>G" "" "" "" "NAA15(NM_057175.3):c.2365A>G (p.(Thr789Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001019187" "0" "70" "4" "140265382" "140265383" "del" "0" "03544" "NAA15_000049" "g.140265382_140265383del" "" "" "" "" "" "Germline" "yes" "rs1291223824" "0" "" "" "g.139344228_139344229del" "" "likely pathogenic" "ACMG" "0001022196" "0" "50" "4" "140270614" "140270615" "del" "0" "04796" "NAA15_000050" "g.140270614_140270615del" "" "" "" "" "effect on RNA exclusion of exon" "Germline/De novo (untested)" "" "" "0" "" "" "g.139349460_139349461del" "" "VUS" "" "0001029398" "0" "70" "4" "140255347" "140255347" "subst" "0" "03544" "NAA15_000051" "g.140255347A>C" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.139334193A>C" "{CV:3766445}" "likely pathogenic" "ACMG" "0001029821" "0" "70" "4" "140258016" "140258016" "subst" "0" "00006" "NAA15_000054" "g.140258016A>T" "" "{PMID:Cheng 2018:29656860}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.139336862A>T" "" "likely pathogenic (dominant)" "" "0001029822" "0" "70" "4" "140258025" "140258025" "del" "0" "00006" "NAA15_000002" "g.140258025del" "" "{PMID:Stessman 2017:28191889}" "" "163delA" "" "De novo" "" "" "0" "" "" "g.139336871del" "" "likely pathogenic (dominant)" "" "0001029823" "0" "70" "4" "140258090" "140258094" "del" "0" "00006" "NAA15_000007" "g.140258090_140258094del" "" "{PMID:Cheng 2018:29656860}" "" "228_232delCTTGA" "" "De novo" "" "" "0" "" "" "g.139336936_139336940del" "" "likely pathogenic (dominant)" "" "0001029824" "0" "70" "4" "140258094" "140258094" "subst" "0" "00006" "NAA15_000055" "g.140258094A>T" "" "{PMID:Cheng 2018:29656860}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.139336940A>T" "" "likely pathogenic (dominant)" "" "0001029825" "0" "70" "4" "140258101" "140258102" "del" "4.33606E-6" "00006" "NAA15_000008" "g.140258101_140258102del" "" "{PMID:Stessman 2017:28191889}" "" "239_240delAT" "" "De novo" "" "" "0" "" "" "g.139336947_139336948del" "" "likely pathogenic (dominant)" "" "0001029826" "0" "70" "4" "140258101" "140258102" "del" "4.33606E-6" "00006" "NAA15_000008" "g.140258101_140258102del" "" "{PMID:Longoni 2017:28303347}" "" "239_240delAT" "" "De novo" "" "" "0" "" "" "g.139336947_139336948del" "" "likely pathogenic (dominant)" "" "0001029827" "0" "70" "4" "140258101" "140258102" "del" "4.33606E-6" "00006" "NAA15_000008" "g.140258101_140258102del" "" "{PMID:Stessman 2017:28191889}" "" "239_240delAT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.139336947_139336948del" "" "likely pathogenic (dominant)" "" "0001029828" "0" "70" "4" "140258101" "140258102" "del" "4.33606E-6" "00006" "NAA15_000008" "g.140258101_140258102del" "" "{PMID:Stessman 2017:28191889}" "" "239_240delAT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.139336947_139336948del" "" "likely pathogenic (dominant)" "" "0001029829" "21" "70" "4" "140258101" "140258102" "del" "4.33606E-6" "00006" "NAA15_000008" "g.140258101_140258102del" "" "{PMID:Stessman 2017:28191889}" "" "239_240delAT" "" "Germline" "" "" "0" "" "" "g.139336947_139336948del" "" "likely pathogenic (dominant)" "" "0001029830" "21" "70" "4" "140258101" "140258102" "del" "4.33606E-6" "00006" "NAA15_000008" "g.140258101_140258102del" "" "{PMID:Cheng 2018:29656860}" "" "239_240delAT" "" "Germline" "" "" "0" "" "" "g.139336947_139336948del" "" "likely pathogenic (dominant)" "" "0001029831" "0" "70" "4" "140258101" "140258102" "del" "4.33606E-6" "00006" "NAA15_000008" "g.140258101_140258102del" "" "{PMID:Cheng 2018:29656860}" "" "239_240delAT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.139336947_139336948del" "" "likely pathogenic (dominant)" "" "0001029832" "0" "70" "4" "140258101" "140258102" "del" "4.33606E-6" "00006" "NAA15_000008" "g.140258101_140258102del" "" "{PMID:Cheng 2018:29656860}" "" "239_240delAT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.139336947_139336948del" "" "likely pathogenic (dominant)" "" "0001029833" "0" "70" "4" "140258101" "140258102" "del" "4.33606E-6" "00006" "NAA15_000008" "g.140258101_140258102del" "" "{PMID:Stessman 2017:28191889}" "" "239_240delAT" "" "De novo" "" "" "0" "" "" "g.139336947_139336948del" "" "likely pathogenic (dominant)" "" "0001029834" "0" "70" "4" "140262069" "140262069" "subst" "0" "00006" "NAA15_000056" "g.140262069G>A" "" "{PMID:Cheng 2018:29656860}" "" "" "IKBKG Arg256Term c.766C>T p.R256* DM Incontinentia pigmenti" "De novo" "" "" "0" "" "" "g.139340915G>A" "" "likely pathogenic (dominant)" "" "0001029835" "0" "70" "4" "140262108" "140262108" "dup" "0" "00006" "NAA15_000057" "g.140262108dup" "" "{PMID:Cheng 2018:29656860}" "" "287dupA" "" "De novo" "" "" "0" "" "" "g.139340954dup" "" "likely pathogenic (dominant)" "" "0001029836" "0" "70" "4" "140263997" "140263997" "dup" "0" "00006" "NAA15_000009" "g.140263997dup" "" "{PMID:Cheng 2018:29656860}" "" "420dupA" "" "De novo" "" "" "0" "" "" "g.139342843dup" "" "likely pathogenic (dominant)" "" "0001029837" "0" "70" "4" "140272401" "140272401" "subst" "0" "00006" "NAA15_000058" "g.140272401G>T" "" "{PMID:Cheng 2018:29656860}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.139351247G>T" "" "likely pathogenic (dominant)" "" "0001029838" "0" "70" "4" "140272657" "140272657" "subst" "0" "00006" "NAA15_000059" "g.140272657A>G" "" "{PMID:Stessman 2017:28191889}" "" "" "" "De novo" "" "" "0" "" "" "g.139351503A>G" "" "likely pathogenic (dominant)" "" "0001029839" "0" "70" "4" "140272664" "140272664" "subst" "0" "00006" "NAA15_000060" "g.140272664A>T" "" "{PMID:Stessman 2017:28191889}" "" "" "" "De novo" "" "" "0" "" "" "g.139351510A>T" "" "likely pathogenic (dominant)" "" "0001029840" "0" "70" "4" "140272760" "140272763" "del" "0" "00006" "NAA15_000036" "g.140272760_140272763del" "" "{PMID:Cheng 2018:29656860}" "" "1009_1012delGAAA" "" "De novo" "" "" "0" "" "" "g.139351606_139351609del" "" "likely pathogenic (dominant)" "" "0001029841" "0" "70" "4" "140272760" "140272763" "del" "0" "00006" "NAA15_000036" "g.140272760_140272763del" "" "{PMID:Zaidi 2013:23665959}" "" "1009_1012delGAAA" "" "De novo" "" "" "0" "" "" "g.139351606_139351609del" "" "likely pathogenic (dominant)" "" "0001029842" "0" "70" "4" "140275254" "140275254" "subst" "0" "00006" "NAA15_000017" "g.140275254T>C" "" "{PMID:Cheng 2018:29656860}" "" "" "" "De novo" "" "" "0" "" "" "g.139354100T>C" "" "likely pathogenic (dominant)" "" "0001029843" "11" "70" "4" "140278586" "140278586" "subst" "0" "00006" "NAA15_000061" "g.140278586C>A" "" "{PMID:Cheng 2018:29656860}" "" "" "" "Germline" "" "" "0" "" "" "g.139357432C>A" "" "likely pathogenic (dominant)" "" "0001029844" "0" "70" "4" "140278586" "140278586" "subst" "0" "00006" "NAA15_000061" "g.140278586C>A" "" "{PMID:Cheng 2018:29656860}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.139357432C>A" "" "likely pathogenic (dominant)" "" "0001029845" "0" "70" "4" "140291406" "140291409" "del" "0" "00006" "NAA15_000062" "g.140291406_140291409del" "" "{PMID:Cheng 2018:29656860}" "" "1795_1798delCAAA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.139370252_139370255del" "" "likely pathogenic (dominant)" "" "0001029846" "0" "70" "4" "140291409" "140291412" "del" "0" "00006" "NAA15_000063" "g.140291409_140291412del" "" "{PMID:Stessman 2017:28191889}" "" "1798_1801delAGAA" "" "De novo" "" "" "0" "" "" "g.139370255_139370258del" "" "likely pathogenic (dominant)" "" "0001029847" "0" "70" "4" "140291452" "140291452" "del" "0" "00006" "NAA15_000006" "g.140291452del" "" "{PMID:Cheng 2018:29656860}" "" "1841delA" "" "De novo" "" "" "0" "" "" "g.139370298del" "" "likely pathogenic (dominant)" "" "0001029848" "0" "70" "4" "140291517" "140291517" "subst" "0" "00006" "NAA15_000064" "g.140291517G>T" "" "{PMID:Cheng 2018:29656860}" "" "" "" "De novo" "" "" "0" "" "" "g.139370363G>T" "" "likely pathogenic (dominant)" "" "0001029849" "21" "70" "4" "140297559" "140297559" "del" "0" "00006" "NAA15_000065" "g.140297559del" "" "{PMID:Cheng 2018:29656860}" "" "1988delC" "" "Germline" "" "" "0" "" "" "g.139376405del" "" "likely pathogenic (dominant)" "" "0001029850" "21" "70" "4" "140297559" "140297559" "del" "0" "00006" "NAA15_000065" "g.140297559del" "" "{PMID:Cheng 2018:29656860}" "" "1988delC" "" "Germline" "" "" "0" "" "" "g.139376405del" "" "likely pathogenic (dominant)" "" "0001029851" "0" "70" "4" "140297559" "140297559" "del" "0" "00006" "NAA15_000065" "g.140297559del" "" "{PMID:Stessman 2017:28191889}" "" "1988delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.139376405del" "" "likely pathogenic (dominant)" "" "0001029852" "0" "70" "4" "140306130" "140306130" "subst" "0" "00006" "NAA15_000066" "g.140306130C>A" "" "{PMID:Cheng 2018:29656860}" "" "" "" "De novo" "" "" "0" "" "" "g.139384976C>A" "" "likely pathogenic (dominant)" "" "0001029853" "0" "70" "4" "140307306" "140307306" "subst" "0" "00006" "NAA15_000067" "g.140307306C>G" "" "{PMID:Cheng 2018:29656860}" "" "" "" "De novo" "" "" "0" "" "" "g.139386152C>G" "" "likely pathogenic (dominant)" "" "0001029854" "0" "70" "4" "140307373" "140307373" "subst" "0" "00006" "NAA15_000068" "g.140307373A>T" "" "{PMID:Cheng 2018:29656860}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.139386219A>T" "" "likely pathogenic (dominant)" "" "0001029855" "0" "70" "4" "137504418" "142696249" "del" "0" "00006" "NAA15_000052" "g.(?_137504418)_(142696249_?)del" "" "{PMID:Stessman 2017:28191889}" "" "chr4:137504418-142696249 del" "5.2 Mb deletion" "De novo" "" "" "0" "" "" "g.(?_136583264)_(141775095_?)del" "" "likely pathogenic (dominant)" "" "0001029856" "0" "70" "4" "138006851" "140735023" "del" "0" "00006" "NAA15_000053" "g.(?_138006851)_(140735023_?)del" "" "{PMID:Cheng 2018:29656860}" "" "hg19 46,XY.arr 4q28.3q31.1(138,006,851-140,735,023)x1 dn" "2.73 Mb deletion" "De novo" "" "" "0" "" "" "g.(?_137085697)_(139813869_?)del" "" "likely pathogenic (dominant)" "" "0001030121" "0" "70" "4" "140258101" "140258102" "del" "4.33606E-6" "01164" "NAA15_000008" "g.140258101_140258102del" "" "PMID: 28191889, 29656860, 28303347, 34210367" "" "" "PVS1, PM6_STR, PS4_SUP, PP1" "Germline" "?" "" "0" "" "" "g.139336947_139336948del" "VCV000559844.26" "pathogenic (dominant)" "ACMG" "0001034356" "0" "70" "4" "140281762" "140281762" "subst" "0" "01804" "NAA15_000069" "g.140281762A>T" "" "" "" "NAA15(NM_057175.5):c.1519A>T (p.(Lys507*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001034357" "0" "70" "4" "140283048" "140283048" "dup" "0" "01804" "NAA15_000070" "g.140283048dup" "" "" "" "NAA15(NM_057175.5):c.1710dup (p.(Asn571Glnfs*6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001051850" "0" "70" "4" "140270736" "140270736" "subst" "0" "01804" "NAA15_000071" "g.140270736G>A" "" "" "" "NAA15(NM_057175.5):c.811+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 NAA15 ## Count = 94 "{{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}}" "0000079491" "00024901" "90" "-1842256" "0" "3450107" "0" "c.-1842256_*3447506del" "r.0?" "p.0?" "" "0000256563" "00024901" "70" "163" "0" "163" "0" "c.163del" "r.(?)" "p.(Thr55HisfsTer2)" "" "0000330130" "00024901" "50" "662" "0" "662" "0" "c.662G>A" "r.(?)" "p.(Cys221Tyr)" "" "0000330133" "00024901" "30" "1131" "0" "1131" "0" "c.1131G>T" "r.(?)" "p.(Gln377His)" "" "0000330134" "00024901" "50" "1841" "0" "1841" "0" "c.1841del" "r.(?)" "p.(Asn614MetfsTer22)" "" "0000521713" "00024901" "70" "1167" "0" "1170" "0" "c.1167_1170del" "r.(?)" "p.(Gln389HisfsTer8)" "" "0000521714" "00024901" "90" "1645" "0" "1645" "0" "c.1645C>T" "r.(?)" "p.(Arg549Ter)" "" "0000521715" "00024901" "90" "1780" "0" "1780" "0" "c.1780A>T" "r.(?)" "p.(Lys594Ter)" "" "0000521716" "00024901" "90" "1826" "0" "1830" "0" "c.1826_1830del" "r.(?)" "p.(Glu609GlyfsTer20)" "" "0000521717" "00024901" "90" "1841" "0" "1841" "0" "c.1841del" "r.(?)" "p.(Asn614MetfsTer22)" "" "0000521718" "00024901" "50" "2030" "0" "2030" "0" "c.2030T>C" "r.(?)" "p.(Phe677Ser)" "" "0000521719" "00024901" "30" "2350" "0" "2350" "0" "c.2350A>G" "r.(?)" "p.(Ile784Val)" "" "0000609078" "00024901" "70" "1087" "2" "1087" "2" "c.1087+2T>C" "r.spl?" "p.?" "" "0000609079" "00024901" "90" "2344" "0" "2344" "0" "c.2344C>T" "r.(?)" "p.(Arg782Ter)" "" "0000621359" "00024901" "30" "850" "0" "850" "0" "c.850T>G" "r.(?)" "p.(Trp284Gly)" "" "0000655100" "00024901" "50" "249" "0" "249" "0" "c.249G>T" "r.(?)" "p.(Trp83Cys)" "" "0000655101" "00024901" "70" "941" "0" "941" "0" "c.941T>C" "r.(?)" "p.(Leu314Pro)" "" "0000655102" "00024901" "70" "1918" "0" "1918" "0" "c.1918G>T" "r.(?)" "p.(Glu640Ter)" "" "0000694186" "00024901" "90" "228" "0" "232" "0" "c.228_232del" "r.(?)" "p.(Asp76Glufs*20)" "" "0000694187" "00024901" "90" "532" "0" "533" "0" "c.532_533del" "r.(?)" "p.(Gln178Thrfs*5)" "" "0000694188" "00024901" "90" "1695" "0" "1695" "0" "c.1695T>A" "r.(?)" "p.(Tyr565*)" "" "0000694189" "00024901" "90" "2086" "0" "2086" "0" "c.2086A>T" "r.(?)" "p.(Lys696*)" "" "0000704146" "00024901" "50" "426" "0" "426" "0" "c.426G>T" "r.(?)" "p.(Gln142His)" "" "0000712957" "00024901" "70" "2057" "-2" "2057" "-2" "c.2057-2A>G" "r.(?)" "p.(?)" "" "0000719765" "00024901" "30" "860" "0" "860" "0" "c.860A>C" "r.(?)" "p.(Tyr287Ser)" "" "0000719766" "00024901" "90" "986" "0" "986" "0" "c.986T>G" "r.(?)" "p.(Leu329*)" "" "0000719767" "00024901" "30" "2350" "0" "2350" "0" "c.2350A>G" "r.(?)" "p.(Ile784Val)" "" "0000760927" "00024901" "70" "2302" "3" "2302" "18" "c.2302+3_2302+18del" "r.(?)" "p.(?)" "" "0000801518" "00024901" "30" "1806" "0" "1806" "0" "c.1806T>C" "r.(?)" "p.(Ala602=)" "" "0000830989" "00024901" "90" "239" "0" "240" "0" "c.239_240del" "r.(?)" "p.(His80ArgfsTer17)" "" "0000850530" "00024901" "70" "55" "-2" "55" "-2" "c.55-2del" "r.spl?" "p.?" "" "0000850531" "00024901" "50" "1352" "0" "1352" "0" "c.1352A>G" "r.(?)" "p.(Tyr451Cys)" "" "0000886141" "00024901" "90" "228" "0" "232" "0" "c.228_232del" "r.(?)" "p.(Asp76GlufsTer20)" "" "0000886142" "00024901" "50" "941" "0" "941" "0" "c.941T>C" "r.(?)" "p.(Leu314Pro)" "" "0000886143" "00024901" "90" "1798" "0" "1798" "0" "c.1798A>T" "r.(?)" "p.(Arg600*)" "" "0000912057" "00024901" "90" "245" "0" "270" "0" "c.245_270dup" "r.(?)" "p.(Arg91Valfs*26)" "" "0000912058" "00024901" "10" "1753" "12" "1753" "12" "c.1753+12del" "r.(=)" "p.(=)" "" "0000919619" "00024901" "90" "1009" "0" "1012" "0" "c.1009_1012del" "r.(?)" "p.(Glu337ArgfsTer5)" "" "0000924063" "00024901" "90" "327" "0" "327" "0" "c.327G>A" "r.(?)" "p.(Trp109*)" "" "0000924064" "00024901" "70" "1873" "0" "1873" "0" "c.1873A>G" "r.(?)" "p.(Lys625Glu)" "" "0000924065" "00024901" "70" "2400" "4" "2400" "4" "c.2400+4A>G" "r.spl?" "p.?" "" "0000928871" "00024901" "50" "719" "0" "719" "0" "c.719T>G" "r.(?)" "p.(Leu240Trp)" "" "0000928872" "00024901" "70" "2302" "3" "2302" "3" "c.2302+3A>C" "r.spl?" "p.?" "" "0000933024" "00024901" "70" "239" "0" "240" "0" "c.239_240del" "r.(?)" "p.(His80Argfs*17)" "" "0000935918" "00024901" "70" "1786" "0" "1786" "0" "c.1786C>T" "r.(?)" "p.(Arg596Cys)" "" "0000963021" "00024901" "30" "2057" "-4" "2057" "-4" "c.2057-4A>G" "r.spl?" "p.?" "" "0000976135" "00024901" "50" "266" "0" "266" "0" "c.266T>C" "r.(?)" "p.(Leu89Pro)" "" "0000987905" "00024901" "70" "72" "0" "72" "0" "c.72dup" "r.(?)" "p.(Gln25Thrfs*3)" "2" "0000994091" "00024901" "30" "1285" "0" "1285" "0" "c.1285A>G" "r.(?)" "p.(Arg429Gly)" "" "0000994092" "00024901" "30" "1741" "0" "1741" "0" "c.1741G>A" "r.(?)" "p.(Glu581Lys)" "" "0000994093" "00024901" "30" "2365" "0" "2365" "0" "c.2365A>G" "r.(?)" "p.(Thr789Ala)" "" "0001019187" "00024901" "70" "580" "0" "581" "0" "c.580_581del" "r.(?)" "p.(Leu194Ilefs*13)" "6" "0001022196" "00024901" "50" "692" "-2" "692" "-1" "c.692-2_692-1del" "r.[692_724del,=]" "p.Gly231_Glu241del" "6i" "0001029398" "00024901" "70" "74" "0" "74" "0" "c.74A>C" "r.(?)" "p.(Gln25Pro)" "2" "0001029821" "00024901" "70" "154" "0" "154" "0" "c.154A>T" "r.(?)" "p.(Lys52Ter)" "" "0001029822" "00024901" "70" "163" "0" "163" "0" "c.163del" "r.(?)" "p.(Thr55HisfsTer2)" "" "0001029823" "00024901" "70" "228" "0" "232" "0" "c.228_232del" "r.(?)" "p.(Asp76GlufsTer20)" "" "0001029824" "00024901" "70" "232" "0" "232" "0" "c.232A>T" "r.(?)" "p.(Lys78Ter)" "" "0001029825" "00024901" "70" "239" "0" "240" "0" "c.239_240del" "r.(?)" "p.(His80ArgfsTer17)" "" "0001029826" "00024901" "70" "239" "0" "240" "0" "c.239_240del" "r.(?)" "p.(His80ArgfsTer17)" "" "0001029827" "00024901" "70" "239" "0" "240" "0" "c.239_240del" "r.(?)" "p.(His80ArgfsTer17)" "" "0001029828" "00024901" "70" "239" "0" "240" "0" "c.239_240del" "r.(?)" "p.(His80ArgfsTer17)" "" "0001029829" "00024901" "70" "239" "0" "240" "0" "c.239_240del" "r.(?)" "p.(His80ArgfsTer17)" "" "0001029830" "00024901" "70" "239" "0" "240" "0" "c.239_240del" "r.(?)" "p.(His80ArgfsTer17)" "" "0001029831" "00024901" "70" "239" "0" "240" "0" "c.239_240del" "r.(?)" "p.(His80ArgfsTer17)" "" "0001029832" "00024901" "70" "239" "0" "240" "0" "c.239_240del" "r.(?)" "p.(His80ArgfsTer17)" "" "0001029833" "00024901" "70" "239" "0" "240" "0" "c.239_240del" "r.(?)" "p.(His80ArgfsTer17)" "" "0001029834" "00024901" "70" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Trp83Ter)" "" "0001029835" "00024901" "70" "287" "0" "287" "0" "c.287dup" "r.(?)" "p.(Tyr96Ter)" "" "0001029836" "00024901" "70" "420" "0" "420" "0" "c.420dup" "r.(?)" "p.(Leu141ThrfsTer25)" "" "0001029837" "00024901" "70" "868" "0" "868" "0" "c.868G>T" "r.(?)" "p.(Gly290Ter)" "" "0001029838" "00024901" "70" "908" "-2" "908" "-2" "c.908-2A>G" "r.spl" "p.?" "" "0001029839" "00024901" "70" "913" "0" "913" "0" "c.913A>T" "r.(?)" "p.(Lys305Ter)" "" "0001029840" "00024901" "70" "1009" "0" "1012" "0" "c.1009_1012del" "r.(?)" "p.(Glu337ArgfsTer5)" "" "0001029841" "00024901" "70" "1009" "0" "1012" "0" "c.1009_1012del" "r.(?)" "p.(Glu337ArgfsTer5)" "" "0001029842" "00024901" "70" "1087" "2" "1087" "2" "c.1087+2T>C" "r.spl" "p.?" "" "0001029843" "00024901" "70" "1134" "0" "1134" "0" "c.1134C>A" "r.(?)" "p.(Tyr378Ter)" "" "0001029844" "00024901" "70" "1134" "0" "1134" "0" "c.1134C>A" "r.(?)" "p.(Tyr378Ter)" "" "0001029845" "00024901" "70" "1795" "0" "1798" "0" "c.1795_1798del" "r.(?)" "p.(Gln599GlufsTer9)" "" "0001029846" "00024901" "70" "1798" "0" "1801" "0" "c.1798_1801del" "r.(?)" "p.(Arg600GlufsTer8)" "" "0001029847" "00024901" "70" "1841" "0" "1841" "0" "c.1841del" "r.(?)" "p.(Asn614MetfsTer22)" "" "0001029848" "00024901" "70" "1906" "0" "1906" "0" "c.1906G>T" "r.(?)" "p.(Gly636Ter)" "" "0001029849" "00024901" "70" "1988" "0" "1988" "0" "c.1988del" "r.(?)" "p.(Pro663ArgfsTer2)" "" "0001029850" "00024901" "70" "1988" "0" "1988" "0" "c.1988del" "r.(?)" "p.(Pro663ArgfsTer2)" "" "0001029851" "00024901" "70" "1988" "0" "1988" "0" "c.1988del" "r.(?)" "p.(Pro663ArgfsTer2)" "" "0001029852" "00024901" "70" "2300" "0" "2300" "0" "c.2300C>A" "r.(?)" "p.(Ser767Ter)" "" "0001029853" "00024901" "70" "2322" "0" "2322" "0" "c.2322C>G" "r.(?)" "p.(Tyr774Ter)" "" "0001029854" "00024901" "70" "2389" "0" "2389" "0" "c.2389A>T" "r.(?)" "p.(Arg797Ter)" "" "0001029855" "00024901" "70" "-2718514" "0" "2389612" "0" "c.(?_-2718514)_(*2387011_?)del" "r.0" "p.0" "" "0001029856" "00024901" "70" "-2216081" "0" "428386" "0" "c.(?_-2216081)_(*425785_?)del" "r.0" "p.0" "" "0001030121" "00024901" "70" "239" "0" "240" "0" "c.239_240del" "r.(?)" "p.(His80Argfs*17)" "3" "0001034356" "00024901" "70" "1519" "0" "1519" "0" "c.1519A>T" "r.(?)" "p.(Lys507*)" "" "0001034357" "00024901" "70" "1710" "0" "1710" "0" "c.1710dup" "r.(?)" "p.(Asn571Glnfs*6)" "" "0001051850" "00024901" "70" "811" "1" "811" "1" "c.811+1G>A" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 50 "{{screeningid}}" "{{variantid}}" "0000050511" "0000079491" "0000312586" "0000694186" "0000312587" "0000694187" "0000312588" "0000694188" "0000312589" "0000694189" "0000328836" "0000712957" "0000360823" "0000760927" "0000437672" "0000933024" "0000439789" "0000935918" "0000453313" "0000987905" "0000460192" "0001019187" "0000462669" "0001022196" "0000465701" "0001029398" "0000466007" "0001029821" "0000466008" "0001029822" "0000466009" "0001029823" "0000466010" "0001029824" "0000466011" "0001029825" "0000466012" "0001029826" "0000466013" "0001029827" "0000466014" "0001029828" "0000466015" "0001029829" "0000466016" "0001029830" "0000466017" "0001029831" "0000466018" "0001029832" "0000466019" "0001029833" "0000466020" "0001029834" "0000466021" "0001029835" "0000466022" "0001029836" "0000466023" "0001029837" "0000466024" "0001029838" "0000466025" "0001029839" "0000466026" "0001029840" "0000466027" "0001029841" "0000466028" "0001029842" "0000466029" "0001029843" "0000466030" "0001029844" "0000466031" "0001029845" "0000466032" "0001029846" "0000466033" "0001029847" "0000466034" "0001029848" "0000466035" "0001029849" "0000466036" "0001029850" "0000466037" "0001029851" "0000466038" "0001029852" "0000466039" "0001029853" "0000466040" "0001029854" "0000466041" "0001029855" "0000466042" "0001029856" "0000466220" "0001030121"