### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SUPT16H) # 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}}" "SUPT16H" "suppressor of Ty 16 homolog (S. cerevisiae)" "14" "q11.1" "unknown" "NC_000014.8" "UD_132084434383" "" "https://www.LOVD.nl/SUPT16H" "" "1" "11465" "11198" "605012" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2026-02-02 14:22:36" "00006" "2026-02-03 14:11:16" ## 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}}" "00020580" "SUPT16H" "suppressor of Ty 16 homolog (S. cerevisiae)" "001" "NM_007192.3" "" "NP_009123.1" "" "" "" "-339" "4345" "3144" "21852425" "21819631" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" "07228" "NEDDFAC" "nurodevelopmental disorder with dysmorphic facies and thin corpus callosum" "AD" "619480" "" "" "" "00006" "2026-02-02 14:22:17" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SUPT16H" "05611" "SUPT16H" "07228" ## Individuals ## Do not remove or alter this header ## ## Count = 37 "{{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}}" "00438679" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0655" "00472320" "" "" "" "1" "" "00006" "{PMID:Lee 2026:41556401}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat1" "00472321" "" "" "" "1" "" "00006" "{PMID:Lee 2026:41556401}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat2" "00472322" "" "" "" "1" "" "00006" "{PMID:Lee 2026:41556401}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Pat3" "00472323" "" "" "" "1" "" "00006" "{PMID:Lee 2026:41556401}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat4" "00472324" "" "" "" "1" "" "00006" "{PMID:Lee 2026:41556401}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat5" "00472325" "" "" "" "1" "" "00006" "{PMID:Lee 2026:41556401}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat6" "00472326" "" "" "" "1" "" "00006" "{PMID:Lee 2026:41556401}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat7" "00472327" "" "" "" "3" "" "00006" "{PMID:Lee 2026:41556401}" "2-generation family, 3 affected (mother, maternal grandmother, maternal uncle and newborn sibling heterozygous carrier)" "F" "" "" "" "0" "" "" "" "Pat8" "00472328" "" "" "" "1" "" "00006" "{PMID:Lee 2026:41556401}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat9" "00472329" "" "" "" "1" "" "00006" "{PMID:Lee 2026:41556401}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "F" "" "" "" "0" "" "" "" "Pat10" "00472330" "" "" "" "1" "" "00006" "{PMID:Lee 2026:41556401}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Pat11" "00472331" "" "" "" "1" "" "00006" "{PMID:Lee 2026:41556401}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat12" "00472332" "" "" "" "1" "" "00006" "{PMID:Lee 2026:41556401}" "2-generation family, 1 affected, unaffected non-carrier mother" "F" "" "United States" "" "0" "" "" "" "Pat13" "00472333" "" "" "" "1" "" "00006" "{PMID:Lee 2026:41556401}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat14" "00472334" "" "" "" "3" "" "00006" "{PMID:Lee 2026:41556401}" "2-generation family, affected brother/sister, mildly affected mother" "M" "" "" "" "0" "" "" "" "Fam1Pat15" "00472335" "" "" "00472334" "1" "" "00006" "{PMID:Lee 2026:41556401}" "sister" "F" "" "" "" "0" "" "" "" "Fam1Pat16" "00472336" "" "" "00472334" "1" "" "00006" "{PMID:Lee 2026:41556401}" "carrier mother" "F" "" "" "" "0" "" "" "" "Fam1mother" "00472337" "" "" "" "1" "" "00006" "{PMID:Lee 2026:41556401}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat17" "00472338" "" "" "" "1" "" "00006" "{PMID:Lee 2026:41556401}" "2-generation family, 1 affected, unaffected parents" "F" "" "United States" "" "0" "" "" "" "Pat18" "00472339" "" "" "" "1" "" "00006" "{PMID:Lee 2026:41556401}" "2-generation family, 1 affected, unaffected non-carrier mother" "M" "" "" "" "0" "" "" "" "Pat19" "00472340" "" "" "" "2" "" "00006" "{PMID:Lee 2026:41556401}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "" "" "0" "" "" "" "Pat20" "00472341" "" "" "" "2" "" "00006" "{PMID:Lee 2026:41556401}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier mother" "F" "" "" "" "0" "" "" "" "Fam2Pat21" "00472342" "" "" "00472341" "1" "" "00006" "{PMID:Lee 2026:41556401}" "sister" "F" "" "" "" "0" "" "" "" "Fam2Pat22" "00472343" "" "" "" "1" "" "00006" "{PMID:Lee 2026:41556401}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat23" "00472344" "" "" "" "1" "" "00006" "{PMID:Lee 2026:41556401}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Pat24" "00472345" "" "" "" "1" "" "00006" "{PMID:Bina 2020:31924697}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat1" "00472346" "" "" "" "1" "" "00006" "{PMID:Bina 2020:31924697}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat2" "00472347" "" "" "" "1" "" "00006" "{PMID:Bina 2020:31924697}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat3" "00472348" "" "" "" "1" "" "00006" "{PMID:Bina 2020:31924697}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat4" "00472349" "" "" "" "1" "" "00006" "{PMID:Bina 2020:31924697}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat5" "00472350" "" "" "" "1" "" "00006" "{PMID:Ma 2023:36255738}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "10y" "0" "" "" "" "Pat1" "00472351" "" "" "" "1" "" "00006" "{PMID:Ma 2023:36255738}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat2" "00472352" "" "" "" "1" "" "00006" "{PMID:Balakrishnan 2024:38818817}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "India" "" "0" "" "" "" "patient" "00472353" "" "" "" "1" "" "00006" "{PMID:Nishikiori 2025:40317652}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Japan" "" "0" "" "" "" "patient" "00472354" "" "" "" "1" "" "00006" "{PMID:Iossifov 2014:25363768}" "" "M" "" "United States" "" "0" "" "" "" "11089" "00472355" "" "" "" "1" "" "00006" "{PMID:Iossifov 2014:25363768}" "" "M" "" "United States" "" "0" "" "" "" "14116" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 37 "{{individualid}}" "{{diseaseid}}" "00438679" "06906" "00472320" "05611" "00472321" "05611" "00472322" "05611" "00472323" "05611" "00472324" "05611" "00472325" "05611" "00472326" "05611" "00472327" "05611" "00472328" "05611" "00472329" "05611" "00472330" "05611" "00472331" "05611" "00472332" "05611" "00472333" "05611" "00472334" "05611" "00472335" "05611" "00472336" "05611" "00472337" "05611" "00472338" "05611" "00472339" "05611" "00472340" "05611" "00472341" "05611" "00472342" "05611" "00472343" "05611" "00472344" "05611" "00472345" "05611" "00472346" "05611" "00472347" "05611" "00472348" "05611" "00472349" "05611" "00472350" "05611" "00472351" "05611" "00472352" "05611" "00472353" "05611" "00472354" "00138" "00472355" "00138" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 05611, 06906, 07228 ## Count = 37 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000328582" "06906" "00438679" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000357123" "05611" "00472320" "00006" "Isolated (sporadic)" "1.66y" "see paper; birth 35w; weight 12.5kg (SD+0.89), height 84cm (SD+1.32), OFC 49cm (SD+1.26); gross motor delay, not yet walking; speech delay, no words; developmental delay; 16m-epilepsy (generalized tonic clonic, tonic, myoclonic), Lennox-Gastaut syndrome, EEG abnormal; autism traits (ASD); hypotonia; involuntary movements, spasms; no sleep disturbance; ocular issues (CVI); no hearing loss; no feeding issues, no swallowing issues; bilateral hydronephrosis with intact corticomedullary differentiation; no congenital heart defects; no endocrine issues; no scoliosis; bitemporal narrowing, tall forehead, cleft chin; normal ears; normal eyes; short upturned nose, narrow angle between philtrum grooves, hypoplastic columella, high arched palate; tapered fingers and 2nd toes overlapping his 3rd toes bilaterally" "" "" "" "" "" "" "" "NEDDFAC" "neurodevelopmental disorder" "0000357124" "05611" "00472321" "00006" "Isolated (sporadic)" "5.17y" "see paper; birth 41w; weight 17.8kg (SD-0.17), height 108.2cm (SD-0.02), OFC 50.5cm (SD+0.11); no gross motor delay; severe speech delay, 3y-first words, 5y-no sentences; moderate developmental delay; moderate intellectual disability; no epilepsy; autism traits (ASD); no behavioral issues; no hypotonia; no involuntary movements; no sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; no scoliosis; normal skull/head; normal ears; normal eyes; normal nose; normal mouth; normal hands/feet" "" "" "" "" "" "" "" "NEDDFAC" "neurodevelopmental disorder" "0000357125" "05611" "00472322" "00006" "Unknown" "5.5y" "see paper; birth 34w; weight 16.6kg (SD-1.34), height 109.9cm (SD-0.36), OFC 48.5cm (SD-2.00); no gross motor delay, 12m-walk; severe speech delay, no sentences; moderate developmental delay; intellectual disability; no epilepsy; no autism; hypotonia; no involuntary movements; no sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; no scoliosis; plagiocephaly, prominent forehead, pointy chin; normal ears; normal eyes; normal nose; normal mouth; normal hands/feet" "" "" "" "" "" "" "" "NEDDFAC" "neurodevelopmental disorder" "0000357126" "05611" "00472323" "00006" "Isolated (sporadic)" "25y" "see paper; birth 37+5w; weight 68kg (SD+0.14), height 165.5cm (SD-1.26), OFC 53.3cm (SD-1.21); moderate gross motor delay; moderate-severe speech delay, 5y-full sentences; moderate developmental delay; moderate intellectual disability; no epilepsy; autism traits (ASD); behavioral issues (fluctuations in behavior and responsivness); hypotonia; no involuntary movements; sleep disturbance; hyperopia; no hearing loss; no feeding issues, no swallowing issues; multicystic kidneys, testicular germ cell tumor; no congenital heart defects; no endocrine issues; no scoliosis; normal skull/head; protruding ears with thickened/malformed helical folds; downslanting palpebral fissures; wide nasal base; claw toes" "" "" "" "" "" "" "" "NEDDFAC" "neurodevelopmental disorder" "0000357127" "05611" "00472324" "00006" "Isolated (sporadic)" "4.17y" "see paper; birth 38w+1, respiratory difficulty; OFC SD<-2; severe gross motor delay, not yet walking; severe speech delay; severe developmental delay; no epilepsy; hypotonia; no ocular issues; bilateral hearing loss; hypospadias; ventricular septal defect; no scoliosis; postanatal microcephaly; dysmorphic ears; normal eyes; dysmorphic nose; dysmorphic mouth; large hands and feet" "" "" "" "" "" "" "" "NEDDFAC" "neurodevelopmental disorder" "0000357128" "05611" "00472325" "00006" "Isolated (sporadic)" "21.88y" "see paper; birth 40w, torcicollis; weight 83.6kg (SD+0.91), height 197.4cm (SD+2.94); no gross motor delay; speech delay; developmental delay; mild intellectual disability; no epilepsy; autism traits (ASD); behavioral issues (ADHD); no hypotonia; no involuntary movements; no sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; no scoliosis; normal skull/head, double whorl; normal ears; normal eyes; normal nose; normal mouth; normal hands/feet" "" "" "" "" "" "" "" "NEDDFAC" "neurodevelopmental disorder" "0000357129" "05611" "00472326" "00006" "Isolated (sporadic)" "6.8y" "see paper; birth 40w; weight 21.3kg (SD-0.74), height 110cm (SD-2.4), OFC 50.5cm (SD-0.77); severe gross motor delay, 5y-walk; severe speech delay; severe developmental delay; severe intellectual disability; no epilepsy; no autism; no behavioral issues; hypotonia; no involuntary movements; no sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; 6.8y-MRI brain hypoplastic corpus callosum; constipation; no congenital heart defects; short stature, IGF-1 deficiency; scoliosis; bitemporal narrowing scaphocephaly, pointy chin; normal ears; lateral eyebrow thinning; wide nasal bridge, cleft palate, thin upper vermilion; 3/4/5 metacarpal shortening; mild lipid storage on muscle biopsy" "" "" "" "" "" "" "" "NEDDFAC" "neurodevelopmental disorder" "0000357130" "05611" "00472327" "00006" "Familial, autosomal dominant" "4.5y" "see paper; birth 37w, respiratory difficulty; weight 14.8kg (SD-1.09), height 100.5cm (SD-0.75); moderate gross motor delay, 22m-walk; severe speech delay, 2y-first work; moderate developmental delay; no epilepsy; autism; behavioral issues; hypotonia; involuntary movements; no sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; 2y-MRI brain normal; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; no scoliosis; normal skull/head; normal ears; normal eyes; normal nose; normal mouth; normal hands/feet; mother/maternal uncle mild developmental concerns in childhood, maternal grandmother no developmental concerns" "" "" "" "" "" "" "" "NEDDFAC" "neurodevelopmental disorder" "0000357131" "05611" "00472328" "00006" "Isolated (sporadic)" "15y" "see paper; birth 40w; weight 70.8kg (SD+1.03), height 174.2cm (SD+0.59), OFC 59.5cm (SD+3.09); no gross motor delay, 11m-walk; no speech delay; no developmental delay; no intellectual disability; no epilepsy; autism traits (ASD); behavioral issues (selective mutism at 13 y); no hypotonia; involuntary movements; sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; 15y-MRI brain normal; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; no scoliosis; macrocephaly, dolichocephaly, long face, maxillary hypoplasia; normal ears; normal eyes; long nose, bulbous nasal tip; maxillary prominence; long philtrum, prominent lips; long fingers with full/broad fingertips and prominent fingertip pads. Increased amount of creases over palm of hands and fingers b/l, some deep. Longer toes, hypoplastic b/l great toenails due to ingrown toenail removal" "" "" "" "" "" "" "" "NEDDFAC" "neurodevelopmental disorder" "0000357132" "05611" "00472329" "00006" "Unknown" "5y" "see paper; birth 40w; weight 23.4kg (SD+1.50), height 114cm (SD+1.28), OFC 50cm (SD-0.22); no gross motor delay; severe speech delay, 5y-no sentences; moderate developmental delay; no epilepsy; autism traits (ASD); no behavioral issues; no hypotonia; no involuntary movements; sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; no scoliosis; normal skull/head; normal ears; normal eyes; normal nose; normal mouth; normal hands/feet" "" "" "" "" "" "" "" "NEDDFAC" "neurodevelopmental disorder" "0000357133" "05611" "00472330" "00006" "Unknown" "1y" "see paper; birth 38w, respiratory difficulty; weight 10.9kg (SD+0.46), height 72. 5cm (SD-1.10), OFC 47cm (SD+0.50); gross motor delay, 1y-sit; speech delay, 1y-no words or babble; moderate developmental delay; no epilepsy; hypotonia; no involuntary movements; no sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; 4m-MRI brain thinning of the corpus callosum, enlarged third and lateral ventricles; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; no scoliosis; broad long forehead; normal ears; deep set eyes; short nose with flattened tip, small mouth with cupid\'s bow, pointy chin, jowly cheeks; normal hands/feet" "" "" "" "" "" "" "" "NEDDFAC" "neurodevelopmental disorder" "0000357134" "05611" "00472331" "00006" "Isolated (sporadic)" "16y" "see paper; birth 40w; weight 67.9kg (SD+0.58), height 153.7cm (SD-2.22), OFC 55cm (SD-0.07); mild gross motor delay, 15m-walk; severe speech delay, no sentences; moderate developmental delay; mild intellectual disability; no epilepsy; no autism; behavioral issues (ADD/ADHD); no hypotonia; no involuntary movements; no sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; 11y-16y-MRI brain, Rathke\'s cleft cyst; no gastrointestinal/genitourinary issues; no congenital heart defects; short stature, growth hormone deficiency; no scoliosis; normal skull/head; normal ears; normal eyes; normal nose; normal mouth; short hands with thick short finger" "" "" "" "" "" "" "" "NEDDFAC" "neurodevelopmental disorder" "0000357135" "05611" "00472332" "00006" "Unknown" "2.75y" "see paper; ..., weight 14.2kg (SD+0.63), height 89.8cm (SD-0.36),; mild gross motor delay; mild speech delay; mild developmental delay; mild intellectual disability; no epilepsy; autism traits (ASD); behavioral issues (sensory defensiveness, irritability); mild hypotonia; no involuntary movements; sleep disturbance; no ocular issues; no hearing loss; feeding issues, swallowing issues, feeding tube; 2y-MRI brain, extensive posterior predominant abnormal WM signal; constipation, gastrointestinal reflux ad insfant; no congenital heart defects; no endocrine issues; no scoliosis; normal skull/head; normal ears; normal eyes; normal nose; normal mouth; normal hands/feet; asthma, pain intolerance" "" "" "" "" "" "" "" "NEDDFAC" "neurodevelopmental disorder" "0000357136" "05611" "00472333" "00006" "Isolated (sporadic)" "9.16y" "see paper; birth 32w; weight 51.5kg (SD+2.77), height 132cm (SD-0.15), OFC 52cm (SD+0.15); severe gross motor delay, 2y6m-walk; severe speech delay, now speking full sentences; severe developmental delay; moderate intellectual disability; no epilepsy; autism traits (ASD); no behavioral issues; hypotonia; no involuntary movements; no sleep disturbance; myopia; sensorineural, unilateral hearing loss; no feeding issues, no swallowing issues; 3y-MRI brain enlarged ventricles, mild hypoplasia superior vermis, mega cysterna magna without molar tooth; fatty liver; no congenital heart defects; 8y-precocious puberty with advanced skeletal maturity; scoliosis; dolichocephaly, bitemporal narrowing, long face, pointed chin, midface hypoplasia; normal ears; normal eyes; tented mouth, high palate; clinodactyly hands; hyperpigmentation on one thigh" "" "" "" "" "" "" "" "NEDDFAC" "neurodevelopmental disorder" "0000357137" "05611" "00472334" "00006" "Familial, autosomal dominant" "2.5y" "see paper; ..., no gross motor delay; no speech delay; no developmental delay; no epilepsy; autism; no behavioral issues; no hypotonia; no involuntary movements; sleep disturbance; no ocular issues; no hearing loss; feeding issues, swallowing issues; duodenal atresia; no congenital heart defects; no endocrine issues; no scoliosis; normal skull/head; normal ears; normal eyes; normal nose; normal mouth; normal hands/feet" "" "" "" "" "" "" "" "NEDDFAC" "neurodevelopmental disorder" "0000357138" "05611" "00472335" "00006" "Familial, autosomal dominant" "5y" "see paper; ..., no gross motor delay;; speech delay; moderate developmental delay; mild intellectual disability (FSIQ62); no epilepsy; autism; no behavioral issues; no hypotonia; no involuntary movements; no sleep disturbance; no ocular issues; no hearing loss; feeding issues, swallowing issues; duodenal atresia; no congenital heart defects; no endocrine issues; no scoliosis; normal skull/head; normal ears; normal eyes; normal nose; normal mouth; normal hands/feet" "" "" "" "" "" "" "" "NEDDFAC" "neurodevelopmental disorder" "0000357139" "05611" "00472336" "00006" "Unknown" "" "see paper; ..., mild intellectual disability;" "" "" "" "" "" "" "" "NEDDFAC" "neurodevelopmental disorder" "0000357140" "05611" "00472337" "00006" "Isolated (sporadic)" "2.7y" "see paper; birth 39w; weight 12.3kg (SD-0.30), height 89.8cm (SD+0.73), OFC 49.5cm (SD+0.60); moderate gross motor delay; severe speech delay, 2y-no words; severe developmental delay; 2y-epilepsy, absence, EEG abnormal; hypotonia, gait instability; no involuntary movements; no sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; 2y-MRI brain normal; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; no scoliosis; normal skull/head; normal ears; epicanthus, deep set eyes; normal nose; normal mouth; normal hands/feet" "" "" "" "" "" "" "" "NEDDFAC" "neurodevelopmental disorder" "0000357141" "05611" "00472338" "00006" "Unknown" "4.82y" "see paper; birth 37w; weight 23.59kg (SD+1.91), height 116.84cm (SD+2.1), OFC 51.4cm (SD+1.17); mild gross motor delay; moderate speech delay, 18m-first word, 3y-2 words , 4y-full sentences; moderate developmental delay; mil-moderate intellectual disability; no epilepsy; autism traits (ASD); behavioral issues (restless leg syndrome); hypotonia, spasticity; involuntary movements; sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; MRI brain normal; reflux as infant, frequent constipation; no congenital heart defects; no endocrine issues; no scoliosis" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000357142" "05611" "00472339" "00006" "Unknown" "17.25y" "see paper; birth 38w; weight 98.4kg (SD+2.37), height 187cm (SD+1.90), OFC 61cm (SD+4.11); no gross motor delay; severe speech delay, 21m-w/regression, no speech; severe developmental delay; evere intellectual disability; epilepsy, absence, EEG normal; autism traits (ASD); behavioral issues (severe aggression, anxiety, depression); hypotonia; no involuntary movements; sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; 4y-MRI brain normal; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; no scoliosis; normal skull/head; normal ears; normal eyes; normal nose; normal mouth; normal hands/feet" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000357143" "05611" "00472340" "00006" "Unknown" "7y" "see paper; birth 39w; weight 32kg (SD+1.82), height 120cm (SD-0.32), OFC 55cm (SD+2.17); mild gross motor delay; moderate speech delay; moderate developmental delay; intellectual disability; no epilepsy; autism traits (ASD); behavioral issues (hyperactivity); no hypotonia; no involuntary movements; sleep disturbance; astigmatism, hyperopia; no hearing loss; no feeding issues, no swallowing issues; MRI brain normal; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; no scoliosis; postanatal macrocephaly; large earlobes; epicanthus; saddle nose deformity; wide hands, slender distal phalanges, bilateral transverse palm crease, valgus feet, large feet; recurrent ear infections" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000357144" "05611" "00472341" "00006" "Unknown" "17y" "see paper; birth 36w; weight 93kg (SD+2.38), height 160cm (SD-0.39), OFC 59cm (SD+4.21); no gross motor delay; severe speech delay; moderate developmental delay; intellectual disability; no epilepsy, 2y-EEG pathological (then normal); autism traits (ASD); behavioral issues (hyperactivity); no hypotonia; no involuntary movements; no sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; MRI brain normal; no gastrointestinal/genitourinary issues; no congenital heart defects; galactorrhea, dysmenorhea, hirsutism, hyperprolactinemia; no scoliosis; postanatal macrocephaly; normal ears; normal eyes; normal nose; normal mouth; wide hands, flat and large feet; hair loss, recurrent ear infections" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000357145" "05611" "00472342" "00006" "Unknown" "4.17y" "see paper; birth 40w; weight 18kg (SD+0.67), height 112cm (SD+2.31); no gross motor delay; moderate speech delay, 12m-w/regression, 3y-started speaking words again; moderate developmental delay; no epilepsy; autism traits (ASD); no behavioral issues; no hypotonia; no involuntary movements; sleep disturbance; no ocular issues; no hearing loss; feeding issues, swallowing issues; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; no scoliosis; normal skull/head; normal ears; normal eyes; normal nose; normal mouth; normal hands/feet" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000357146" "05611" "00472343" "00006" "Isolated (sporadic)" "13.83y" "see paper; birth 38w; weight 55.5kg (SD+0.30), height 170cm (SD+0.80), OFC 58cm (SD+2.22); gross motor delay, 13m-walk; speech delay; moderate developmental delay; no intellectual disability; no epilepsy; autism traits (ASD); no behavioral issues; hypotonia; no involuntary movements; no sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; MRI brain small volume residual corpus callosum; hydrocephaly; bilateral lateral ventriculomegaly; bilateral cerebral white matter volume loss; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; scoliosis; normal skull/head; normal ears; normal eyes; normal nose; normal mouth; normal hands/feet" "" "" "" "" "" "" "" "NEDDFAC" "neurodevelopmental disorder" "0000357147" "05611" "00472344" "00006" "Unknown" "15.75y" "see paper; ..., birth respiratory difficulty; weight 87.2kg (SD+2.03), height 177cm (SD+0.85), OFC 59cm (SD+2.74); 10m-epilepsy unknown type, EEGG abnormal; autism traits (PDD); behavioral issues (ADD/ADHD); no hypotonia; no involuntary movements; no sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; scoliosis; macrocephaly; normal ears; normal eyes; normal nose; normal mouth; normal hands/feet" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000357148" "05611" "00472345" "00006" "Isolated (sporadic)" "8y" "see paper; ..., gross motor delay; no speech (non-verbal); severe intellectual disability; autistic features; no seizures; spina bifida, tethered cord; sleep disturbance; thin corpus callosum; decreased white matter volume; frontal bossing, dolichocephaly; hypertelorism, epicanthal folds; ears thick helices, slightly posteriorly rotatedears, low-set ears; normal nose; normal mouth; no precocious puberty; no congenital heart defects; constipation; dermatographia" "" "" "" "" "" "" "" "NEDDFAC" "neurodevelopmental disorder" "0000357149" "05611" "00472346" "00006" "Isolated (sporadic)" "12y" "see paper; ..., gross motor delay; no speech (non-verbal); severe intellectual disability; autistic features; no seizures; normal spine; sleep disturbance; no facial dysmorphism; down-slanting palpebral fissures; normal ears; broad nasal bridge; bifid uvula, prominent cupid’s bow; tapered fingers; precocious puberty; no congenital heart defects; history of feeding difficulties" "" "" "" "" "" "" "" "NEDDFAC" "neurodevelopmental disorder" "0000357150" "05611" "00472347" "00006" "Isolated (sporadic)" "5y" "see paper; ..., gross motor delay; speech delay; mild-moderate intellectual disability; no autistic features; no seizures; normal spine; no sleep disturbance; no facial dysmorphism; strabismus; normal ears; normal nose; normal mouth; no precocious puberty; no congenital heart defects; no gastrointestinal anomalies; asthma; pyramidal syndrome" "" "" "" "" "" "" "" "NEDDFAC" "neurodevelopmental disorder" "0000357151" "05611" "00472348" "00006" "Isolated (sporadic)" "2y" "see paper; ..., gross motor delay; speech delay; mild-moderate intellectual disability; simple partial seizures; normal spine; no sleep disturbance; thin corpus callosum; decreased white matter volume; plagiocephaly; normal eyes; cupped ears, dysplastic ears; normal nose; normal mouth; right facial palsy; no precocious puberty; congenital heart defects; G-tube placement; torticollis; hydronephrosis; mixed hearing loss" "" "" "" "" "" "" "" "NEDDFAC" "neurodevelopmental disorder" "0000357152" "05611" "00472349" "00006" "Isolated (sporadic)" "14y" "see paper; ..., gross motor delay; no speech (non-verbal); severe intellectual disability; no autistic features; complex partial seizures; scoliosis; sleep disturbance; partial agenesis corpus callosum (absent posterior body and splenium); decreased white matter volume; tall forehead, frontal bossing; hypertelorism, down-slanting palpebral fissures; dysplastic ears; wide nasal bridge and tip; small mouth with full lips; precocious puberty; congenital heart defects; constipation, gastro-oesophageal reflux disease, congenital choledochal cyst/cholecystectomy, caecostomy tube placement, ileostomy; septo-optic dysplasia; hgh deficiency; common variable immunodeficiency" "" "" "" "" "" "" "" "NEDDFAC" "neurodevelopmental disorder" "0000357153" "05611" "00472350" "00006" "Isolated (sporadic)" "10y" "see paper; ..., 10y-deceased; delayed motor development; deleyed language development; intellectual disability; seizures; bilateral cerebral atrophy, bilateral frontotemporal extracranial space widening, multiple small cysts corpus callosum; OFC increased, scaphocephaly, prominent forehead; normal eyes; large ears; impaired hearing; flat nasal bridge; thick lips; congenital heart defects" "" "" "" "" "" "" "" "NEDDFAC" "neurodevelopmental disorder" "0000357154" "05611" "00472351" "00006" "Isolated (sporadic)" "5y10m" "see paper; ..., delayed motor development; deleyed language development; intellectual disability; recurrent, seizures (alleviated by valproic acid treatment); bilateral brain atrophy, hydrocephaly, bilateral ventriculomegaly; craniofacial malformation; small eye fissure, wide eye distance; low-set ears; flat nasal bridge, short upturned nose; normal mouth; congenital heart defects" "" "" "" "" "" "" "" "NEDDFAC" "neurodevelopmental disorder" "0000357155" "05611" "00472352" "00006" "Isolated (sporadic)" "1.75y" "see paper; ..., motor delay; global developmental delay; failure to thrive; speech delay; no intellectual disability; no autism; feeding difficulties; sleep disturbances; joint laxity; dolichocephaly, frontal bossing; bilateral epicanthus, depressed nasal bridge, short nose, bulbous nasal tip, long philtrum, narrow mouth with full lips, open mouth, protruding tongue, posteriorly rotated low set ears; hypotonia; MRI brain diffuse thinning corpus callosum" "" "" "" "" "" "" "" "NEDDFAC" "neurodevelopmental delay" "0000357156" "05611" "00472353" "00006" "Isolated (sporadic)" "3y" "see paper; ..., birth 37w, weight 3234 g; severe intellectual disability; dysmorphic facial features; severe developmental delay; microcephaly; no seizures; MRI brain thin corpus callosum; interrupted aortic arch, ventricular septal defect; hair depigmentation; 2y9m-expressive speech delay" "" "" "" "" "" "" "" "NEDDFAC" "neurodevelopmental delay" "0000357157" "00138" "00472354" "00006" "Unknown" "" "see paper; ..., autism, intellectual disability" "" "" "" "" "" "" "" "" "autism" "0000357158" "00138" "00472355" "00006" "Unknown" "" "see paper; ..., autism, no intellectual disability" "" "" "" "" "" "" "" "" "autism" ## Screenings ## Do not remove or alter this header ## ## Count = 37 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000440161" "00438679" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000473990" "00472320" "1" "00006" "00006" "2026-02-03 11:21:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000473991" "00472321" "1" "00006" "00006" "2026-02-03 11:21:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000473992" "00472322" "1" "00006" "00006" "2026-02-03 11:21:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000473993" "00472323" "1" "00006" "00006" "2026-02-03 11:21:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000473994" "00472324" "1" "00006" "00006" "2026-02-03 11:21:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000473995" "00472325" "1" "00006" "00006" "2026-02-03 11:21:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000473996" "00472326" "1" "00006" "00006" "2026-02-03 11:21:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000473997" "00472327" "1" "00006" "00006" "2026-02-03 11:21:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000473998" "00472328" "1" "00006" "00006" "2026-02-03 11:21:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000473999" "00472329" "1" "00006" "00006" "2026-02-03 11:21:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000474000" "00472330" "1" "00006" "00006" "2026-02-03 11:21:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000474001" "00472331" "1" "00006" "00006" "2026-02-03 11:21:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000474002" "00472332" "1" "00006" "00006" "2026-02-03 11:21:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000474003" "00472333" "1" "00006" "00006" "2026-02-03 11:21:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000474004" "00472334" "1" "00006" "00006" "2026-02-03 11:21:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000474005" "00472335" "1" "00006" "00006" "2026-02-03 11:21:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000474006" "00472336" "1" "00006" "00006" "2026-02-03 11:21:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000474007" "00472337" "1" "00006" "00006" "2026-02-03 11:21:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000474008" "00472338" "1" "00006" "00006" "2026-02-03 11:21:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000474009" "00472339" "1" "00006" "00006" "2026-02-03 11:21:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000474010" "00472340" "1" "00006" "00006" "2026-02-03 11:21:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000474011" "00472341" "1" "00006" "00006" "2026-02-03 11:21:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000474012" "00472342" "1" "00006" "00006" "2026-02-03 11:21:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000474013" "00472343" "1" "00006" "00006" "2026-02-03 11:21:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000474014" "00472344" "1" "00006" "00006" "2026-02-03 11:21:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000474015" "00472345" "1" "00006" "00006" "2026-02-03 12:00:08" "" "" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "WES" "0000474016" "00472346" "1" "00006" "00006" "2026-02-03 12:00:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474017" "00472347" "1" "00006" "00006" "2026-02-03 12:00:08" "" "" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "WES" "0000474018" "00472348" "1" "00006" "00006" "2026-02-03 12:00:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474019" "00472349" "1" "00006" "00006" "2026-02-03 12:00:08" "" "" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "" "0000474020" "00472350" "1" "00006" "00006" "2026-02-03 13:08:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000474021" "00472351" "1" "00006" "00006" "2026-02-03 13:08:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000474022" "00472352" "1" "00006" "00006" "2026-02-03 13:17:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474023" "00472353" "1" "00006" "00006" "2026-02-03 13:26:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474024" "00472354" "1" "00006" "00006" "2026-02-03 13:37:50" "" "" "SEQ-NG" "DNA" "" "" "0000474025" "00472355" "1" "00006" "00006" "2026-02-03 13:41:45" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 66 "{{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}}" "0000273519" "0" "50" "14" "21854087" "21854087" "subst" "0.000211987" "01943" "CHD8_000009" "g.21854087C>T" "" "" "" "CHD8(NM_001170629.1):c.7431G>A (p.M2477I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21385928C>T" "" "VUS" "" "0000273520" "0" "30" "14" "21854019" "21854019" "subst" "0" "01943" "CHD8_000008" "g.21854019T>G" "" "" "" "CHD8(NM_001170629.1):c.7499A>C (p.H2500P, p.(His2500Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21385860T>G" "" "likely benign" "" "0000323568" "0" "50" "14" "21831045" "21831045" "subst" "0.000109737" "01804" "SUPT16H_000001" "g.21831045G>A" "" "" "" "SUPT16H(NM_007192.3):c.1573C>T (p.(Arg525Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21362886G>A" "" "VUS" "" "0000551523" "0" "30" "14" "21820890" "21820890" "subst" "1.63531E-5" "01804" "SUPT16H_000031" "g.21820890C>T" "" "" "" "SUPT16H(NM_007192.3):c.3086G>A (p.(Arg1029His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21352731C>T" "" "likely benign" "" "0000551524" "0" "50" "14" "21831601" "21831601" "subst" "0" "01943" "SUPT16H_000002" "g.21831601A>G" "" "" "" "SUPT16H(NM_007192.3):c.1295T>C (p.L432P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21363442A>G" "" "VUS" "" "0000551526" "0" "30" "14" "21853843" "21853843" "subst" "5.89337E-5" "01804" "CHD8_000020" "g.21853843T>C" "" "" "" "CHD8(NM_001170629.1):c.7675A>G (p.(Arg2559Gly)), CHD8(NM_001170629.2):c.7675A>G (p.R2559G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21385684T>C" "" "likely benign" "" "0000551527" "0" "30" "14" "21854013" "21854013" "subst" "0" "01804" "CHD8_000021" "g.21854013T>G" "" "" "" "CHD8(NM_001170629.1):c.7505A>C (p.(His2502Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21385854T>G" "" "likely benign" "" "0000551528" "0" "30" "14" "21854019" "21854019" "subst" "0" "01804" "CHD8_000008" "g.21854019T>G" "" "" "" "CHD8(NM_001170629.1):c.7499A>C (p.H2500P, p.(His2500Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21385860T>G" "" "likely benign" "" "0000551529" "0" "30" "14" "21854206" "21854206" "subst" "0" "01804" "CHD8_000022" "g.21854206T>G" "" "" "" "CHD8(NM_001170629.1):c.7312A>C (p.(Thr2438Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21386047T>G" "" "likely benign" "" "0000551530" "0" "30" "14" "21854315" "21854315" "subst" "0.000288839" "02326" "CHD8_000023" "g.21854315C>T" "" "" "" "CHD8(NM_001170629.2):c.7203G>A (p.V2401=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21386156C>T" "" "likely benign" "" "0000657369" "0" "50" "14" "21854007" "21854015" "del" "0" "01943" "CHD8_000054" "g.21854007_21854015del" "" "" "" "CHD8(NM_001170629.1):c.7515_7523delCCATCACCA (p.H2506_H2508del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21385848_21385856del" "" "VUS" "" "0000863489" "0" "30" "14" "21853843" "21853843" "subst" "5.89337E-5" "02325" "CHD8_000020" "g.21853843T>C" "" "" "" "CHD8(NM_001170629.1):c.7675A>G (p.(Arg2559Gly)), CHD8(NM_001170629.2):c.7675A>G (p.R2559G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21385684T>C" "" "likely benign" "" "0000863490" "0" "30" "14" "21853853" "21853853" "subst" "0.0162915" "01804" "CHD8_000079" "g.21853853A>G" "" "" "" "CHD8(NM_001170629.1):c.7665T>C (p.(Asp2555=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21385694A>G" "" "likely benign" "" "0000891677" "0" "30" "14" "21833262" "21833262" "subst" "0.000615046" "02325" "SUPT16H_000004" "g.21833262T>C" "" "" "" "SUPT16H(NM_007192.4):c.1087A>G (p.I363V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930271" "0" "30" "14" "21820878" "21820878" "subst" "0.0012335" "02325" "SUPT16H_000030" "g.21820878C>T" "" "" "" "SUPT16H(NM_007192.4):c.3098G>A (p.R1033H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000936319" "0" "50" "14" "21828671" "21828671" "subst" "0" "00006" "SUPT16H_000005" "g.21828671C>T" "" "{PMID:Hamdan 2017:29100083}" "" "NM_007192:c.G2078A (R693Q)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000950212" "0" "50" "14" "21826511" "21826511" "subst" "0" "02325" "SUPT16H_000006" "g.21826511C>T" "" "" "" "SUPT16H(NM_007192.4):c.2377G>A (p.E793K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980805" "0" "30" "14" "21833307" "21833307" "subst" "0" "01804" "SUPT16H_000007" "g.21833307A>G" "" "" "" "SUPT16H(NM_007192.4):c.1047-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980806" "0" "30" "14" "21836422" "21836422" "subst" "4.5929E-5" "01804" "SUPT16H_000008" "g.21836422C>T" "" "" "" "SUPT16H(NM_007192.4):c.955+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000837" "0" "30" "14" "21820891" "21820891" "subst" "1.22673E-5" "01804" "SUPT16H_000032" "g.21820891G>A" "" "" "" "SUPT16H(NM_007192.3):c.3085C>T (p.(Arg1029Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0001000838" "0" "50" "14" "21822563" "21822563" "subst" "0" "01804" "SUPT16H_000033" "g.21822563C>T" "" "" "" "SUPT16H(NM_007192.3):c.2790+7G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0001000839" "0" "50" "14" "21831467" "21831469" "del" "0" "01804" "SUPT16H_000011" "g.21831467_21831469del" "" "" "" "SUPT16H(NM_007192.3):c.1327_1329delGAG (p.(Glu443del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000840" "0" "50" "14" "21834671" "21834671" "subst" "4.06792E-6" "01804" "SUPT16H_000012" "g.21834671C>T" "" "" "" "SUPT16H(NM_007192.3):c.973G>A (p.(Val325Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000841" "0" "30" "14" "21837976" "21837976" "subst" "4.06312E-6" "01804" "SUPT16H_000013" "g.21837976C>T" "" "" "" "SUPT16H(NM_007192.3):c.563G>A (p.(Ser188Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015120" "0" "30" "14" "21834671" "21834671" "subst" "3.25433E-5" "02325" "SUPT16H_000019" "g.21834671C>A" "" "" "" "SUPT16H(NM_007192.4):c.973G>T (p.V325L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039858" "0" "50" "14" "21837976" "21837976" "subst" "0" "01804" "SUPT16H_000020" "g.21837976C>A" "" "" "" "SUPT16H(NM_007192.4):c.563G>T (p.(Ser188Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054754" "0" "30" "14" "21829143" "21829145" "del" "0" "01804" "SUPT16H_000023" "g.21829143_21829145del" "" "" "" "SUPT16H(NM_007192.4):c.1930-9_1930-7del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001066025" "0" "30" "14" "21834677" "21834677" "subst" "1.62827E-5" "01804" "SUPT16H_000024" "g.21834677A>G" "" "" "" "SUPT16H(NM_007192.4):c.967T>C (p.(Cys323Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001066026" "0" "50" "14" "21836567" "21836567" "dup" "0" "01804" "SUPT16H_000025" "g.21836567dup" "" "" "" "SUPT16H(NM_007192.4):c.817dup (p.(Cys273Leufs*21))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066027" "0" "50" "14" "21837415" "21837415" "subst" "0" "01804" "SUPT16H_000026" "g.21837415G>A" "" "" "" "SUPT16H(NM_007192.4):c.730C>T (p.(Pro244Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001068051" "0" "70" "14" "21841534" "21841536" "del" "0" "00006" "SUPT16H_000009" "g.21841534_21841536del" "" "{PMID:Lee 2026:41556401}" "" "123_125delTGA" "" "De novo" "" "" "0" "" "" "g.21373375_21373377del" "" "likely pathogenic (dominant)" "" "0001068052" "0" "70" "14" "21833284" "21833284" "subst" "0" "00006" "SUPT16H_000022" "g.21833284T>A" "" "{PMID:Lee 2026:41556401}" "" "" "" "De novo" "" "" "0" "" "" "g.21365125T>A" "" "likely pathogenic (dominant)" "" "0001068053" "0" "70" "14" "21831442" "21831442" "subst" "0" "00006" "SUPT16H_000048" "g.21831442C>T" "" "{PMID:Lee 2026:41556401}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.21363283C>T" "" "likely pathogenic (dominant)" "" "0001068054" "0" "70" "14" "21830436" "21830436" "subst" "0" "00006" "SUPT16H_000046" "g.21830436G>T" "" "{PMID:Lee 2026:41556401}" "" "" "" "De novo" "" "" "0" "" "" "g.21362277G>T" "" "likely pathogenic (dominant)" "" "0001068055" "0" "90" "14" "21829118" "21829118" "subst" "0" "00006" "SUPT16H_000045" "g.21829118T>C" "" "{PMID:Lee 2026:41556401}" "" "" "" "De novo" "" "" "0" "" "" "g.21360959T>C" "" "pathogenic (dominant)" "" "0001068056" "0" "70" "14" "21828672" "21828672" "subst" "0" "00006" "SUPT16H_000044" "g.21828672G>C" "" "{PMID:Lee 2026:41556401}" "" "" "" "De novo" "" "" "0" "" "" "g.21360513G>C" "" "likely pathogenic (dominant)" "" "0001068057" "0" "90" "14" "21827744" "21827744" "subst" "0" "00006" "SUPT16H_000042" "g.21827744G>A" "" "{PMID:Lee 2026:41556401}" "" "" "" "De novo" "" "" "0" "" "" "g.21359585G>A" "" "pathogenic (dominant)" "" "0001068058" "21" "70" "14" "21827704" "21827704" "subst" "0" "00006" "SUPT16H_000040" "g.21827704A>C" "" "{PMID:Lee 2026:41556401}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21359545A>C" "" "likely pathogenic (dominant)" "" "0001068059" "0" "70" "14" "21826147" "21826147" "subst" "0" "00006" "SUPT16H_000038" "g.21826147G>A" "" "{PMID:Lee 2026:41556401}" "" "" "" "De novo" "" "" "0" "" "" "g.21357988G>A" "" "likely pathogenic (dominant)" "" "0001068060" "21" "70" "14" "21826093" "21826093" "subst" "0" "00006" "SUPT16H_000037" "g.21826093G>A" "" "{PMID:Lee 2026:41556401}" "" "" "" "Germline" "" "" "0" "" "" "g.21357934G>A" "" "likely pathogenic (dominant)" "" "0001068061" "0" "70" "14" "21825497" "21825497" "subst" "0" "00006" "SUPT16H_000036" "g.21825497A>G" "" "{PMID:Lee 2026:41556401}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.21357338A>G" "" "likely pathogenic (dominant)" "" "0001068062" "0" "90" "14" "21825477" "21825477" "subst" "0" "00006" "SUPT16H_000035" "g.21825477G>A" "" "{PMID:Lee 2026:41556401}" "" "" "" "De novo" "" "" "0" "" "" "g.21357318G>A" "" "pathogenic (dominant)" "" "0001068063" "0" "70" "14" "21837508" "21837508" "subst" "0" "00006" "SUPT16H_000017" "g.21837508G>A" "" "{PMID:Lee 2026:41556401}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.21369349G>A" "" "likely pathogenic (dominant)" "" "0001068064" "0" "90" "14" "21837484" "21837485" "del" "0" "00006" "SUPT16H_000018" "g.21837484_21837485del" "" "{PMID:Lee 2026:41556401}" "" "662_663delTG" "" "De novo" "" "" "0" "" "" "g.21369325_21369326del" "" "pathogenic (dominant)" "" "0001068065" "21" "70" "14" "21828662" "21828663" "del" "0" "00006" "SUPT16H_000043" "g.21828662_21828663del" "" "{PMID:Lee 2026:41556401}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21360503_21360504del" "" "likely pathogenic (dominant)" "" "0001068066" "21" "70" "14" "21828662" "21828663" "del" "0" "00006" "SUPT16H_000043" "g.21828662_21828663del" "" "{PMID:Lee 2026:41556401}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21360503_21360504del" "" "likely pathogenic (dominant)" "" "0001068067" "0" "70" "14" "21828662" "21828663" "del" "0" "00006" "SUPT16H_000043" "g.21828662_21828663del" "" "{PMID:Lee 2026:41556401}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.21360503_21360504del" "" "likely pathogenic (dominant)" "" "0001068068" "0" "90" "14" "21821687" "21821687" "del" "0" "00006" "SUPT16H_000034" "g.21821687del" "" "{PMID:Lee 2026:41556401}" "" "2958delT" "" "De novo" "" "" "0" "" "" "g.21353528del" "" "pathogenic (dominant)" "" "0001068069" "0" "50" "14" "21840086" "21840086" "subst" "0" "00006" "SUPT16H_000010" "g.21840086C>T" "" "{PMID:Lee 2026:41556401}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.21371927C>T" "" "VUS" "" "0001068070" "0" "50" "14" "21838025" "21838025" "subst" "0" "00006" "SUPT16H_000016" "g.21838025T>C" "" "{PMID:Lee 2026:41556401}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.21369866T>C" "" "VUS" "" "0001068071" "21" "50" "14" "21836450" "21836450" "subst" "0" "00006" "SUPT16H_000021" "g.21836450C>G" "" "{PMID:Lee 2026:41556401}" "" "" "" "Germline" "" "" "0" "" "" "g.21368291C>G" "" "VUS" "" "0001068072" "21" "50" "14" "21836450" "21836450" "subst" "0" "00006" "SUPT16H_000021" "g.21836450C>G" "" "{PMID:Lee 2026:41556401}" "" "" "" "Germline" "" "" "0" "" "" "g.21368291C>G" "" "VUS" "" "0001068073" "21" "50" "14" "21833021" "21833021" "subst" "0" "00006" "SUPT16H_000049" "g.21833021C>A" "" "{PMID:Lee 2026:41556401}" "" "" "" "Germline" "" "" "0" "" "" "g.21364862C>A" "" "VUS" "" "0001068074" "0" "70" "14" "21829007" "21829007" "subst" "0" "00006" "SUPT16H_000029" "g.21829007T>C" "" "{PMID:Lee 2026:41556401}" "" "" "individual carries de novo FGFR1 mosaic pathogenic variant (Q288Rfs*3)" "De novo" "" "" "0" "" "" "g.21360848T>C" "" "likely pathogenic (dominant)" "" "0001068075" "0" "50" "14" "21827738" "21827738" "subst" "0" "00006" "SUPT16H_000041" "g.21827738T>C" "" "{PMID:Lee 2026:41556401}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.21359579T>C" "" "VUS" "" "0001068076" "0" "90" "14" "21827744" "21827744" "subst" "0" "00006" "SUPT16H_000042" "g.21827744G>A" "" "{PMID:Bina 2020:31924697}" "" "" "" "De novo" "" "" "0" "" "" "g.21359585G>A" "" "pathogenic (dominant)" "" "0001068077" "0" "90" "14" "21830437" "21830437" "subst" "0" "00006" "SUPT16H_000047" "g.21830437T>C" "" "{PMID:Bina 2020:31924697}" "" "" "" "De novo" "" "" "0" "" "" "g.21362278T>C" "" "pathogenic (dominant)" "" "0001068078" "0" "90" "14" "21831601" "21831601" "subst" "0" "00006" "SUPT16H_000002" "g.21831601A>G" "" "{PMID:Bina 2020:31924697}" "" "" "" "De novo" "" "" "0" "" "" "g.21363442A>G" "" "pathogenic (dominant)" "" "0001068079" "0" "70" "14" "21838055" "21838055" "subst" "0" "00006" "SUPT16H_000014" "g.21838055T>C" "" "{PMID:Bina 2020:31924697}" "" "" "" "De novo" "" "" "0" "" "" "g.21369896T>C" "" "likely pathogenic (dominant)" "" "0001068080" "0" "70" "14" "20511672" "22562282" "del" "0" "00006" "SUPT16H_000027" "g.(?_20511672)_(22562282_?)del" "" "{PMID:Bina 2020:31924697}" "" "hg19? del chr14:20511672–22562282" "2.05 Mb deletion 4q11.1q11.2 incl.SUPT16H; carries also 30.17 Mb copy number gain chromosome bands 18p11.32q12.1" "De novo" "" "" "0" "" "" "g.(?_20043513)_(22094123_?)del" "" "likely pathogenic (dominant)" "" "0001068083" "0" "90" "14" "21838027" "21838027" "subst" "4.06494E-6" "00006" "SUPT16H_000015" "g.21838027G>A" "" "{PMID:Ma 2023:36255738}" "" "2421C>T (Gly808Arg)" "" "De novo" "" "" "0" "" "" "g.21369868G>A" "" "pathogenic (dominant)" "" "0001068084" "0" "90" "14" "21826154" "21826154" "subst" "0" "00006" "SUPT16H_000039" "g.21826154C>T" "" "{PMID:Ma 2023:36255738}" "" "" "" "De novo" "" "" "0" "" "" "g.21357995C>T" "" "pathogenic (dominant)" "" "0001068085" "0" "90" "14" "21825477" "21825477" "subst" "0" "00006" "SUPT16H_000035" "g.21825477G>A" "" "{PMID:Balakrishnan 2024:38818817}" "" "" "" "De novo" "" "" "0" "" "" "g.21357318G>A" "" "pathogenic (dominant)" "" "0001068086" "0" "90" "14" "21827744" "21827744" "subst" "0" "00006" "SUPT16H_000042" "g.21827744G>A" "" "{PMID:Nishikiori 2025:40317652}" "" "" "" "De novo" "" "" "0" "" "" "g.21359585G>A" "" "pathogenic (dominant)" "" "0001068087" "0" "50" "14" "21828671" "21828671" "subst" "0" "00006" "SUPT16H_000005" "g.21828671C>T" "" "{PMID:Iossifov 2014:25363768}" "" "14:21828671:C:T" "" "De novo" "" "" "0" "" "" "g.21360512C>T" "" "VUS" "" "0001068088" "0" "50" "14" "21836551" "21836551" "subst" "0" "00006" "SUPT16H_000028" "g.21836551G>A" "" "{PMID:Iossifov 2014:25363768}" "" "14:21836551:G:A" "" "De novo" "" "" "0" "" "" "g.21368392G>A" "" "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 SUPT16H ## Count = 66 "{{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}}" "0000273519" "00020580" "50" "-2001" "0" "-2001" "0" "c.-2001G>A" "r.(?)" "p.(=)" "" "0000273520" "00020580" "30" "-1933" "0" "-1933" "0" "c.-1933A>C" "r.(?)" "p.(=)" "" "0000323568" "00020580" "50" "1573" "0" "1573" "0" "c.1573C>T" "r.(?)" "p.(Arg525Trp)" "" "0000551523" "00020580" "30" "3086" "0" "3086" "0" "c.3086G>A" "r.(?)" "p.(Arg1029His)" "" "0000551524" "00020580" "50" "1295" "0" "1295" "0" "c.1295T>C" "r.(?)" "p.(Leu432Pro)" "" "0000551526" "00020580" "30" "-1757" "0" "-1757" "0" "c.-1757A>G" "r.(?)" "p.(=)" "" "0000551527" "00020580" "30" "-1927" "0" "-1927" "0" "c.-1927A>C" "r.(?)" "p.(=)" "" "0000551528" "00020580" "30" "-1933" "0" "-1933" "0" "c.-1933A>C" "r.(?)" "p.(=)" "" "0000551529" "00020580" "30" "-2120" "0" "-2120" "0" "c.-2120A>C" "r.(?)" "p.(=)" "" "0000551530" "00020580" "30" "-2229" "0" "-2229" "0" "c.-2229G>A" "r.(?)" "p.(=)" "" "0000657369" "00020580" "50" "-1917" "0" "-1909" "0" "c.-1917_-1909del" "r.(?)" "p.(=)" "" "0000863489" "00020580" "30" "-1757" "0" "-1757" "0" "c.-1757A>G" "r.(?)" "p.(=)" "" "0000863490" "00020580" "30" "-1767" "0" "-1767" "0" "c.-1767T>C" "r.(?)" "p.(=)" "" "0000891677" "00020580" "30" "1087" "0" "1087" "0" "c.1087A>G" "r.(?)" "p.(Ile363Val)" "" "0000930271" "00020580" "30" "3098" "0" "3098" "0" "c.3098G>A" "r.(?)" "p.(Arg1033His)" "" "0000936319" "00020580" "50" "2078" "0" "2078" "0" "c.2078G>A" "r.(?)" "p.(Arg693Gln)" "" "0000950212" "00020580" "50" "2377" "0" "2377" "0" "c.2377G>A" "r.(?)" "p.(Glu793Lys)" "" "0000980805" "00020580" "30" "1047" "-5" "1047" "-5" "c.1047-5T>C" "r.spl?" "p.?" "" "0000980806" "00020580" "30" "955" "6" "955" "6" "c.955+6G>A" "r.(=)" "p.(=)" "" "0001000837" "00020580" "30" "3085" "0" "3085" "0" "c.3085C>T" "r.(?)" "p.(Arg1029Cys)" "" "0001000838" "00020580" "50" "2790" "7" "2790" "7" "c.2790+7G>A" "r.(=)" "p.(=)" "" "0001000839" "00020580" "50" "1327" "0" "1329" "0" "c.1327_1329del" "r.(?)" "p.(Glu443del)" "" "0001000840" "00020580" "50" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Val325Met)" "" "0001000841" "00020580" "30" "563" "0" "563" "0" "c.563G>A" "r.(?)" "p.(Ser188Asn)" "" "0001015120" "00020580" "30" "973" "0" "973" "0" "c.973G>T" "r.(?)" "p.(Val325Leu)" "" "0001039858" "00020580" "50" "563" "0" "563" "0" "c.563G>T" "r.(?)" "p.(Ser188Ile)" "" "0001054754" "00020580" "30" "1930" "-9" "1930" "-7" "c.1930-9_1930-7del" "r.(=)" "p.(=)" "" "0001066025" "00020580" "30" "967" "0" "967" "0" "c.967T>C" "r.(?)" "p.(Cys323Arg)" "" "0001066026" "00020580" "50" "817" "0" "817" "0" "c.817dup" "r.(?)" "p.(Cys273Leufs*21)" "" "0001066027" "00020580" "50" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Pro244Ser)" "" "0001068051" "00020580" "70" "123" "0" "125" "0" "c.123_125del" "r.(?)" "p.(Asp41del)" "" "0001068052" "00020580" "70" "1065" "0" "1065" "0" "c.1065A>T" "r.(?)" "p.(Glu355Asp)" "" "0001068053" "00020580" "70" "1345" "0" "1345" "0" "c.1345G>A" "r.(?)" "p.(Asp449Asn)" "" "0001068054" "00020580" "70" "1713" "0" "1713" "0" "c.1713C>A" "r.(?)" "p.(Asn571Lys)" "" "0001068055" "00020580" "90" "1943" "0" "1943" "0" "c.1943A>G" "r.(?)" "p.(Gln648Arg)" "" "0001068056" "00020580" "70" "2077" "0" "2077" "0" "c.2077C>G" "r.(?)" "p.(Arg693Gly)" "" "0001068057" "00020580" "90" "2200" "0" "2200" "0" "c.2200C>T" "r.(?)" "p.(Arg734Trp)" "" "0001068058" "00020580" "70" "2240" "0" "2240" "0" "c.2240T>G" "r.(?)" "p.(Ile747Arg)" "" "0001068059" "00020580" "70" "2429" "0" "2429" "0" "c.2429C>T" "r.(?)" "p.(Pro810Leu)" "" "0001068060" "00020580" "70" "2483" "0" "2483" "0" "c.2483C>T" "r.(?)" "p.(Thr828Met)" "" "0001068061" "00020580" "70" "2519" "0" "2519" "0" "c.2519T>C" "r.(?)" "p.(Val840Ala)" "" "0001068062" "00020580" "90" "2539" "0" "2539" "0" "c.2539C>T" "r.(?)" "p.(Arg847Trp)" "" "0001068063" "00020580" "70" "637" "0" "637" "0" "c.637C>T" "r.(?)" "p.(Arg213Ter)" "" "0001068064" "00020580" "90" "662" "0" "663" "0" "c.662_663del" "r.(?)" "p.(Val221GlyfsTer5)" "" "0001068065" "00020580" "70" "2087" "0" "2088" "0" "c.2087_2088del" "r.(?)" "p.(Lys696SerfsTer7)" "" "0001068066" "00020580" "70" "2087" "0" "2088" "0" "c.2087_2088del" "r.(?)" "p.(Lys696SerfsTer7)" "" "0001068067" "00020580" "70" "2087" "0" "2088" "0" "c.2087_2088del" "r.(?)" "p.(Lys696SerfsTer7)" "" "0001068068" "00020580" "90" "2958" "0" "2958" "0" "c.2958del" "r.(?)" "p.(Ser986ArgfsTer31)" "" "0001068069" "00020580" "50" "277" "0" "277" "0" "c.277G>A" "r.(?)" "p.(Gly93Ser)" "" "0001068070" "00020580" "50" "514" "0" "514" "0" "c.514A>G" "r.(?)" "p.(Ile172Val)" "" "0001068071" "00020580" "50" "933" "0" "933" "0" "c.933G>C" "r.(?)" "p.(Glu311Asp)" "" "0001068072" "00020580" "50" "933" "0" "933" "0" "c.933G>C" "r.(?)" "p.(Glu311Asp)" "" "0001068073" "00020580" "50" "1198" "0" "1198" "0" "c.1198G>T" "r.(?)" "p.(Ala400Ser)" "" "0001068074" "00020580" "70" "2054" "0" "2054" "0" "c.2054A>G" "r.(?)" "p.(Asn685Ser)" "" "0001068075" "00020580" "50" "2206" "0" "2206" "0" "c.2206A>G" "r.(?)" "p.(Thr736Ala)" "" "0001068076" "00020580" "90" "2200" "0" "2200" "0" "c.2200C>T" "r.(?)" "p.(Arg734Trp)" "" "0001068077" "00020580" "90" "1712" "0" "1712" "0" "c.1712A>G" "r.(?)" "p.(Asn571Ser)" "" "0001068078" "00020580" "90" "1295" "0" "1295" "0" "c.1295T>C" "r.(?)" "p.(Leu432Pro)" "" "0001068079" "00020580" "70" "484" "0" "484" "0" "c.484A>G" "r.(?)" "p.(Ile162Val)" "" "0001068080" "00020580" "70" "-710196" "0" "1312304" "0" "c.(?_-710196)_(*1309160_?)del" "r.0" "p.0" "" "0001068083" "00020580" "90" "512" "0" "512" "0" "c.512C>T" "r.(?)" "p.(Thr171Ile)" "" "0001068084" "00020580" "90" "2422" "0" "2422" "0" "c.2422G>A" "r.(?)" "p.(Gly808Arg)" "" "0001068085" "00020580" "90" "2539" "0" "2539" "0" "c.2539C>T" "r.(?)" "p.(Arg847Trp)" "" "0001068086" "00020580" "90" "2200" "0" "2200" "0" "c.2200C>T" "r.(?)" "p.(Arg734Trp)" "" "0001068087" "00020580" "50" "2078" "0" "2078" "0" "c.2078G>A" "r.(?)" "p.(Arg693Gln)" "" "0001068088" "00020580" "50" "832" "0" "832" "0" "c.832C>T" "r.(?)" "p.(Arg278Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 37 "{{screeningid}}" "{{variantid}}" "0000440161" "0000936319" "0000473990" "0001068051" "0000473991" "0001068052" "0000473992" "0001068053" "0000473993" "0001068054" "0000473994" "0001068055" "0000473995" "0001068056" "0000473996" "0001068057" "0000473997" "0001068058" "0000473998" "0001068059" "0000473999" "0001068060" "0000474000" "0001068061" "0000474001" "0001068062" "0000474002" "0001068063" "0000474003" "0001068064" "0000474004" "0001068065" "0000474005" "0001068066" "0000474006" "0001068067" "0000474007" "0001068068" "0000474008" "0001068069" "0000474009" "0001068070" "0000474010" "0001068071" "0000474011" "0001068072" "0000474012" "0001068073" "0000474013" "0001068074" "0000474014" "0001068075" "0000474015" "0001068076" "0000474016" "0001068077" "0000474017" "0001068078" "0000474018" "0001068079" "0000474019" "0001068080" "0000474020" "0001068083" "0000474021" "0001068084" "0000474022" "0001068085" "0000474023" "0001068086" "0000474024" "0001068087" "0000474025" "0001068088"