### 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" "00000" "2026-06-17 12:13:02" ## 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" "ASD" "autism spectrum disorder" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2026-09-08 10:43:23" "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/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 = 67 "{{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" "" "0001078511" "0" "50" "14" "21851830" "21851830" "subst" "0" "03779" "" "g.21851830G>C" "" "" "" "" "" "Unknown" "" "rs1053472100" "0" "" "" "" "" "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 = 67 "{{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)" "" "0001078511" "00020580" "50" "66" "191" "66" "191" "c.66+191C>G" "r.(?)" "p.(?)" "" ## 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"