### LOVD-version 3000-260 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NR2F1) # 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}}" "NR2F1" "nuclear receptor subfamily 2, group F, member 1" "5" "q14" "unknown" "NG_034119.1" "UD_136089624263" "" "https://www.LOVD.nl/NR2F1" "" "1" "7975" "7025" "132890" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/NR2F1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-06-10 14:40:38" "00006" "2021-04-10 16:23:54" ## 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}}" "00014783" "NR2F1" "nuclear receptor subfamily 2, group F, member 1" "001" "NM_005654.4" "" "NP_005645.1" "" "" "" "-1687" "1512" "1272" "92919043" "92929788" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "04062" "BBSOAS" "Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS)" "AD" "615722" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-06-10 14:41:27" "04282" "CVI" "cerebral visual impairment (CVI)" "" "" "" "" "" "00006" "2015-06-15 15:37:52" "00006" "2015-06-15 15:38:26" "04293" "OPA" "atrophy, optic (OPA)" "" "" "" "" "" "00006" "2015-06-21 20:48:01" "00006" "2018-11-16 15:59:50" "05684" "neuropathy, optic" "neuropathy, optic" "" "" "" "" "" "00006" "2020-01-10 11:57:41" "00091" "2021-02-19 09:59:43" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NR2F1" "04062" "NR2F1" "05684" ## Individuals ## Do not remove or alter this header ## ## Count = 27 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{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}}" "00039400" "" "" "" "1" "01158" "{PMID:Bosch 2014:24462372}, {DOI:Bosch 2014:10.1016/j.ajhg.2014.01.002}, {PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "M" "no" "Netherlands" ">12y" "0" "" "" "" "26350515-Pat13" "00039410" "" "" "" "1" "01158" "{PMID:Bosch 2014:24462372}, {DOI:Bosch 2014:10.1016/j.ajhg.2014.01.002}, {PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "F" "no" "Netherlands" ">02y" "0" "" "" "" "" "00043807" "" "" "" "1" "00006" "{PMID:Bosch 2014:24462372}, {DOI:Bosch 2014:10.1016/j.ajhg.2014.01.002}" "" "F" "no" "" ">18y" "0" "" "" "" "" "00043808" "" "" "" "1" "00006" "{PMID:Bosch 2014:24462372}, {DOI:Bosch 2014:10.1016/j.ajhg.2014.01.002}" "" "F" "no" "United States" ">35y" "0" "" "" "" "" "00043809" "" "" "" "1" "00006" "{PMID:Bosch 2014:24462372}, {DOI:Bosch 2014:10.1016/j.ajhg.2014.01.002}" "father, unaffecter heterozygous carrier sister and son" "M" "no" "" ">68y" "0" "" "" "" "" "00043810" "" "" "" "1" "00006" "{PMID:Bosch 2014:24462372}, {DOI:Bosch 2014:10.1016/j.ajhg.2014.01.002}" "" "F" "" "" ">24y" "0" "" "" "" "" "00043811" "" "" "" "1" "00006" "{PMID:Bosch 2014:24462372}, {DOI:Bosch 2014:10.1016/j.ajhg.2014.01.002}" "" "F" "" "" ">04y" "0" "" "" "" "" "00103883" "" "" "" "1" "00006" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "United States" "" "0" "" "" "" "28327206-PatBH5763_1" "00263904" "" "" "" "1" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00296855" "" "" "" "1" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00310033" "" "" "" "2" "03763" "{PMID:Mio 2020:32412696}" "" "M" "?" "Italy" "" "0" "" "" "Caucasian" "Proband 1" "00310047" "" "" "00310033" "1" "03763" "{PMID:Mio 2020:32412696}" "" "M" "?" "Italy" "" "" "" "" "" "Proband 2" "00310052" "" "" "" "1" "03763" "{PMID:Starosta 2020:32407885}" "" "F" "?" "United States" "" "" "" "" "" "" "00310097" "" "" "" "1" "03763" "{PMID:Jezela-Stanek (2020):32337850}" "" "M" "?" "? (unknown)" "" "" "" "" "" "Patient 6" "00310201" "" "" "" "1" "03763" "{PMID:Bojanek(2019):31729143}" "" "M" "" "United States" "" "" "" "" "" "" "00310203" "" "" "" "1" "03763" "{PMID:Park 2019:31393201}" "" "M" "?" "Korea" "" "" "" "" "" "" "00310204" "" "" "" "1" "03763" "{PMID:Martin-Hernandez 2018:29410510}" "" "F" "no" "Spain" "" "" "" "" "" "" "00310373" "" "" "" "1" "03763" "{PMID:Kaiwar 2017:28963436}" "" "M" "?" "? (unknown)" "" "" "" "" "" "Case 1" "00310602" "" "" "" "1" "03763" "{PMID:Chen 2017:26986877}" "" "M" "" "? (unknown)" "" "" "" "" "" "Individual 1" "00310603" "" "" "" "1" "03763" "{PMID:Chen 2017:26986877}" "" "M" "?" "? (unknown)" "" "" "" "" "" "Individual 3" "00311092" "" "" "" "1" "03763" "{PMID:Brown 2010 :19353646}" "" "F" "" "? (unknown)" "" "" "" "" "" "DGAP169" "00311369" "" "" "" "1" "03763" "{PMID:Rech 2020:32275123}" "" "M" "?" "? (unknown)" "" "" "" "" "" "ID 25" "00311370" "" "" "" "1" "03763" "{PMID:Rech 2020:32275123}" "" "M" "?" "? (unknown)" "" "" "" "" "" "ID 26" "00311372" "" "" "" "1" "03763" "{PMID:Rech 2020:32275123}" "" "M" "?" "? (unknown)" "" "" "" "" "" "ID 34" "00320445" "" "" "" "1" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "172742" "00358820" "" "" "" "1" "00091" "" "" "F" "" "(France)" "" "0" "" "" "" "" "00358821" "" "" "" "1" "00091" "" "" "F" "" "(France)" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 30 "{{individualid}}" "{{diseaseid}}" "00039400" "00139" "00039400" "04062" "00039400" "04282" "00039410" "00139" "00039410" "04062" "00039410" "04282" "00043807" "04062" "00043808" "00198" "00043809" "04293" "00043810" "04282" "00043811" "04282" "00103883" "00198" "00296855" "00198" "00310033" "05684" "00310047" "05684" "00310052" "05684" "00310097" "05684" "00310201" "05684" "00310203" "05684" "00310204" "05684" "00310373" "05684" "00310602" "05684" "00310603" "05684" "00311092" "04062" "00311369" "05684" "00311370" "05684" "00311372" "05684" "00320445" "04062" "00358820" "05684" "00358821" "05684" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 04062, 04282, 04293, 05684 ## Count = 29 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Vision/Other}}" "{{Phenotype/Vision/Problems}}" "{{Phenotype/Development/Motor_skills}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/MRI/brain}}" "{{Phenotype/Eye/OCT}}" "{{Phenotype/Vision/Field}}" "{{Phenotype/Vision/Acuity}}" "{{Phenotype/Vision/Optic_nerve/Hypoplasia}}" "{{Phenotype/Vision/Colour}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Habits}}" "{{Phenotype/Histology}}" "{{Phenotype/Diagnosis/Criteria}}" "0000034016" "04062" "00039410" "00006" "Isolated (sporadic)" "" "MRI-brain smalll optic nerve and chiasm; pale optic disc, occipital frontal head circumference (55th centile); no behavioral abnormalities" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034017" "00139" "00039410" "00006" "Isolated (sporadic)" "" "global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034018" "00139" "00039400" "00006" "Isolated (sporadic)" "" "IQ 48; moderate intellectual disability (HP:0002342)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034019" "04062" "00039400" "00006" "Isolated (sporadic)" "" "no behavioral abnormalities, normal occipital frontal head circumference, optic disc small and large excavation; MRI-brain normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034036" "04062" "00043807" "00006" "Isolated (sporadic)" "" "seep paper; IQ 55–65, no behavioral abnormalities, occipital frontal head circumference 55th centile, cerebral visual impairment, optic disc pale and large excavation, no MRI brain peformed" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034037" "00198" "00043808" "00006" "Isolated (sporadic)" "" "see paper; optic atrophy, intellectual disability (IQ 52), autism spectrum disorder with marked obsessive-compulsive disorder, occipital frontal head circumference 13th centile, no cerebral visual impairment, pale optic disc, MRI-brain normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034038" "04293" "00043809" "00006" "Unknown" "" "optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034039" "04282" "00043810" "00006" "Isolated (sporadic)" "" "see paper; IQ 61–74, no behavioral abnormalities, occipital frontal head circumference 99th centile, partial pale optic disc, MRI-brain not performed" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034040" "04282" "00043811" "00006" "Unknown" "" "see paper; developmental delay, poor visual acuity, CVI, right eye small\r\npale optic disc/left eye a pale optic disc with large excavation, no behavioral\r\nabnormalities, occipital frontal head circumference 50th centile, MRI-brain normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081809" "00198" "00103883" "00006" "Isolated (sporadic)" "" "developmental delay. cortical brain malformation, autism, seizures, optic nerve atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000201811" "00198" "00263904" "01164" "Unknown" "" "Generalized abnormality of skin (HP:0011354); Intellectual disability, mild (HP:0001256); Ptosis (HP:0000508); Restlessness (HP:0000711); Abnormality of skin pigmentation (HP:0001000); Neurodevelopmental abnormality (HP:0012759); Behavioral abnormality (HP:0000708); Impaired pain sensation (HP:0007328); Delayed speech and language development (HP:0000750); Abnormality of higher mental function (HP:0011446); Global developmental delay (HP:0001263); Febrile seizures (HP:0002373); Sensory impairment (HP:0003474)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000224252" "00198" "00296855" "01164" "Unknown" "" "Intellectual disability (HP:0001249); Paresthesia (HP:0003401); Abnormal nerve conduction velocity (HP:0040129); Optic atrophy (HP:0000648)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000235348" "05684" "00310033" "03763" "Familial, autosomal dominant" "14y" "Neurodevelopmental delay (HP:0012758); Repetitive compulsive behavior (HP:0008762); Myoclonic seizure (HP:0032794) ; Rigidity (HP:0002063); Postural instability (HP:0002172); Optic atrophy (HP:0000648); Nystagmus (HP:0000639); Visual impairment (HP:0000505); Synophrys (HP:0000664); Abnormal palate morphology (HP:0000174); Finger clinodactyly (HP:0040019); Epicanthus (HP:0000286); Abnormal subarachnoid space morphology (HP:0012703); Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Caesarian section (HP:0011410); Nystagmus (HP:0000639)" "00y10m?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000235359" "05684" "00310047" "03763" "Familial, autosomal dominant" "14y" "Neurodevelopmental delay (HP:0012758); Repetitive compulsive behavior (HP:0008762); Myoclonic seizure (HP:0032794) ; Rigidity (HP:0002063); Postural instability (HP:0002172); Optic atrophy (HP:0000648); Nystagmus (HP:0000639); Visual impairment (HP:0000505); Synophrys (HP:0000664); Abnormal palate morphology (HP:0000174); Finger clinodactyly (HP:0040019); Dilation of lateral ventricles (HP:0006956); Intraventricular arachnoid cyst (HP:0012488); Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Caesarian section (HP:0011410)" "00y10m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000235367" "05684" "00310052" "03763" "Familial, autosomal dominant" "31y" "Neurodevelopmental delay (HP:0012758); Muscular hypotonia (HP:0001252); Ataxia (HP:0001251); Dehydration (HP:0001944); Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373); Hyperinsulinemia (HP:0000842); Protein-losing enteropathy (HP:0002243); Blindness (HP:0000618); Abnormal aggressive, impulsive or violent behavior (HP:0006919); Hallucinations (HP:0000738); Depressivity (HP:0000716); Delayed puberty (HP:0000823); Carious teeth (HP:0000670); Deep venous thrombosis (HP:0002625); Menorrhagia (HP:0000132); Cholelithiasis (HP:0001081); Optic atrophy (HP:0000648); Abnormality of optic chiasm morphology (HP:0025163); Corpus callosum atrophy (HP:0007371); Pituitary gland cyst (HP:0410278); Deeply set eye (HP:0000490); Malar flattening (HP:0000272); Inverted nipples (HP:0003186); Finger clinodactyly (HP:0040019); Pes planus (HP:0001763); Brisk reflexes (HP:0001348); Failure to thrive (HP:0001508); Caesarian section (HP:0011410); Poor suck (HP:0002033); Delayed ability to walk (HP:0031936); Delayed speech and language development (HP:0000750);" "<00y00m28d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital Disorder Of Glycosylation, Type I/iix OMIM:212067" "" "" "" "0000235409" "05684" "00310097" "03763" "Familial, autosomal dominant" "10y" "Intellectual disability, severe (HP:0010864); Cerebral palsy (HP:0100021); Seizure (HP:0001250); Gait imbalance (HP:0002141); Recurrent infections (HP:0002719); Narrow palm (HP:0004283); Narrow foot (HP:0001786); Horizontal nystagmus (HP:0000666); Amblyopia (HP:0000646); Delayed myelination (HP:0012448); Optic nerve dysplasia (HP:0001093); Absent speech (HP:0001344); Short attention span (HP:0000736); Broad-based gait (HP:0002136); Abnormality of pain sensation (HP:0010832); Visual impairment (HP:0000505); Limb joint contracture (HP:0003121); High forehead (HP:0000348); Protruding ear (HP:0000411); Widely spaced teeth (HP:0000687); Abnormality of the distal phalanx of the thumb (HP:0009617); Long fingers (HP:0100807); Sandal gap (HP:0001852); Pes valgus (HP:0008081); Pes planus (HP:0001763); Optic atrophy (HP:0000648)" "00y04m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "bbill" "" "0000235504" "05684" "00310201" "03763" "Familial, autosomal dominant" "30y" "Hyperbilirubinemia (HP:0002904); Recurrent hand flapping (HP:0100023); Toe walking (HP:0040083); Delayed fine motor development (HP:0010862); Muscular hypotonia (HP:0001252); Autistic behavior (HP:0000729); Attention deficit hyperactivity disorder (HP:0007018); Specific learning disability (HP:0001328); EEG with central sharp waves (HP:0011293); Protruding ear (HP:0000411); Micrognathia (HP:0000347); Cupped ear (HP:0000378); Midface retrusion (HP:0011800); Depressed nasal tip (HP:0000437); Thick vermilion border (HP:0012471); Joint hypermobility (HP:0001382); Optic nerve hypoplasia (HP:0000609); Abnormal retinal morphology on macular OCT (HP:0030612); Reduced visual acuity (HP:0007663); Speech articulation difficulties (HP:0009088); Impaired executive functioning (HP:0033051); Impaired use of nonverbal behaviors (HP:0000758); Optic atrophy (HP:0000648)" "02y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000235506" "05684" "00310203" "03763" "Familial, autosomal dominant" "07y" "Neurodevelopmental delay (HP:0012758); Delayed fine motor development (HP:0010862); Intellectual disability, borderline (HP:0006889); Attention deficit hyperactivity disorder (HP:0007018); Protruding ear (HP:0000411); Retrognathia (HP:0000278); Nystagmus (HP:0000639); Optic atrophy (HP:0000648); Abnormal retinal morphology on macular OCT (HP:0030612); Reduced visual acuity (HP:0007663); Corpus callosum atrophy (HP:0007371); Caesarian section (HP:0011410)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000235509" "05684" "00310204" "03763" "Familial, autosomal dominant" "17y" "Vomiting (HP:0002013); Muscular hypotonia (HP:0001252); Fluctuations in consciousness (HP:0007159); Esodeviation (HP:0020045); Nystagmus (HP:0000639); Optic atrophy (HP:0000648); Visual field defect (HP:0001123); Visual impairment (HP:0000505); Elevated serum creatine kinase (HP:0003236); EMG: myopathic abnormalities (HP:0003458); Hypoplasia of the corpus callosum (HP:0002079); Decreased activity of mitochondrial complex IV (HP:0008347); Intellectual disability, moderate (HP:0002342); Abnormality of visual evoked potentials (HP:0000649); Stroke-like episode (HP:0002401); Motor delay (HP:0001270); Global developmental delay (HP:0001263); Hemiparesis (HP:0001269)" "00y06m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000235675" "05684" "00310373" "03763" "Familial, autosomal dominant" "14y" "Feeding difficulties (HP:0011968); Global developmental delay (HP:0001263); Infantile spasms (HP:0012469); Inguinal hernia (HP:0000023); Dolichocephaly (HP:0000268); Midface retrusion (HP:0011800); Deeply set eye (HP:0000490); Short palpebral fissure (HP:0012745); Protruding ear (HP:0000411); Abnormality of the helix (HP:0011039); Aplasia/Hypoplasia of the earlobes (HP:0009906); Skin tags (HP:0010609); Microretrognathia (HP:0000308); Macrodontia (HP:0001572); Absent speech (HP:0001344); Impaired social interactions (HP:0000735); Behavioral abnormality (HP:0000708); Weakness of facial musculature (HP:0030319); Muscular hypotonia (HP:0001252); Decreased muscle mass (HP:0003199); Apraxia (HP:0002186); Brisk reflexes (HP:0001348); Short stature (HP:0004322); Decreased body weight (HP:0004325); Delayed skeletal maturation (HP:0002750); Optic nerve hypoplasia( HP:0000609); EEG with generalized spikes (HP:0012000); Generalized-onset seizure (HP:0002197); Decreased CSF 5-hydroxyindolacetic acid (HP:0025455); Decreased CSF homovanillic acid (HP:0003785); Intellectual disability, severe (HP:0010864); Difficulty walking (HP:0002355); Gastrostomy tube feeding in infancy (HP:0011471); Optic atrophy (HP:0000648)" "00y00m01d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000235898" "05684" "00310602" "03763" "Familial, autosomal dominant" "06y" "Muscular hypotonia (HP:0001252); Neurodevelopmental delay (HP:0012758); Optic atrophy (HP:0000648); Abnormality of optic chiasm morphology (HP:0025163); Absent speech (HP:0001344); Oromotor apraxia (HP:0007301); Seizure (HP:0001250); Generalized tonic seizure (HP:0010818); Generalized non-motor (absence) seizure (HP:0002121); Autistic behavior (HP:0000729); Corpus callosum atrophy (HP:0007371); Cerebral white matter hypoplasia (HP:0012430); Hearing impairment (HP:0000365); Delayed ability to sit (HP:0025336); Delayed ability to walk (HP:0031936); Delayed ability to stand (HP:0025335); Dysphagia (HP:0002015)" "00y00m01d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000235899" "05684" "00310603" "03763" "Familial, autosomal dominant" "" "Ventouse delivery (HP:0011412); Cyanosis (HP:0000961); Abnormality of the umbilical cord (HP:0010881); Jaundice (HP:0000952); Optic atrophy (HP:0000648); Impaired smooth pursuit (HP:0007772); Focal-onset seizure (HP:0007359); Encephalopathy (HP:0001298); Reflex seizure (HP:0020207); Delayed myelination (HP:0012448); Cerebellar malformation (HP:0002438); Cerebral white matter atrophy (HP:0012762); Neurodevelopmental delay (HP:0012758); Intellectual disability (HP:0001249); Autistic behavior (HP:0000729); Cerebral visual impairment HP:0100704; Repetitive compulsive behavior (HP:0008762)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236348" "04062" "00311092" "03763" "Unknown" "00y02m" "Caesarian section (HP:0011410); Poor suck (HP:0002033); Dysphagia (HP:0002015); Abnormality of the scalp hair (HP:0100037); Facial asymmetry (HP:0000324); Upslanted palpebral fissure (HP:0000582); Anteverted nares (HP:0000463); Broad nasal tip (HP:0000455); Micrognathia (HP:0000347); Abnormality of the pinna (HP:0000377); Muscular hypotonia of the trunk (HP:0008936); Reduced tendon reflexes (HP:0001315); Profound sensorineural hearing impairment (HP:0011476); Abnormality of the vestibulocochlear nerve (HP:0009591); Cochlear malformation (HP:0008554); Abnormality of the middle ear ossicles (HP:0004452); Abnormality of the vestibular window (HP:0040100); Abnormality of the seventh cranial nerve (HP:0010827); Growth delay (HP:0001510); Apneic episodes in infancy (HP:0005949); Strabismus (HP:0000486); Temporal hypotrichosis (HP:0004524); Delayed gross motor development (HP:0002194); Global developmental delay (HP:0001263); Delayed speech and language development (HP:0000750);" "00y00m01d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236617" "05684" "00311369" "03763" "Familial, autosomal dominant" "16y" "Neurodevelopmental delay (HP:0012758); Delayed speech and language development (HP:0000750); Motor delay (HP:0001270); Autistic behavior (HP:0000729); Behavioral abnormality (HP:0000708); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Alacrima (HP:0000522); Cerebral visual impairment (HP:0100704); Nystagmus (HP:0000639); Muscular hypotonia (HP:0001252); Impaired pain sensation (HP:0007328); Feeding difficulties (HP:0011968); Sleep disturbance (HP:0002360); Typical absence seizure (HP:0011147); Tonic seizure (HP:0032792); Abnormality of temperature regulation (HP:0004370); Obsessive-compulsive behavior (HP:0000722)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236618" "05684" "00311370" "03763" "Unknown" "03y" "Neurodevelopmental delay (HP:0012758); Delayed speech and language development (HP:0000750); Motor delay (HP:0001270); Autistic behavior (HP:0000729); Behavioral abnormality (HP:0000708); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Cerebral visual impairment (HP:0100704); Optic nerve hypoplasia (HP:0000609); Alacrima (HP:0000522); Muscular hypotonia (HP:0001252); Hyperorality (HP:0000710); Impaired pain sensation (HP:0007328); Feeding difficulties (HP:0011968); Abnormality of temperature regulation (HP:0004370)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236620" "05684" "00311372" "03763" "Familial, autosomal dominant" "02y" "Neurodevelopmental delay (HP:0012758); Delayed speech and language development (HP:0000750); Absent speech (HP:0001344); Motor delay (HP:0001270); Autistic behavior (HP:0000729); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Alacrima (HP:0000522); Cerebral visual impairment (HP:0100704); Optic nerve hypoplasia (HP:0000609); Muscular hypotonia (HP:0001252); Hyperorality (HP:0000710); Impaired pain sensation (HP:0007328); Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373); Abnormality of temperature regulation (HP:0004370); Hearing impairment (HP:0000365)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242422" "04062" "00320445" "01164" "Unknown" "" "(+) Optic atrophy,(+) Delayed speech and language development,(+) Intellectual disability,(+) Seizure,(+) Abnormality of higher mental function,(+) Abnormal nervous system physiology,(+) Neurodevelopmental delay,(+) Neurodevelopmental abnormality,(+) Abnormality of the optic disc" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000254035" "05684" "00358820" "00091" "Unknown" "22y" "Optic atrophy (HP:0000648)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000254036" "05684" "00358821" "00091" "Unknown" "" "Neurodevelopmental delay (HP:0012758); Dysarthria (HP:0001260); Reduced visual acuity HP:0007663; Hyperintensity of cerebral white matter on MRI (HP:0030890)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 27 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000039641" "00039400" "1" "01158" "01158" "2015-06-15 14:53:39" "" "" "SEQ-NG" "DNA" "" "" "0000039652" "00039410" "1" "01158" "01158" "2015-06-15 15:49:39" "00006" "2015-06-16 20:14:46" "SEQ-NG" "DNA" "" "" "0000044052" "00043807" "1" "00006" "00006" "2015-06-21 20:41:21" "" "" "SEQ" "DNA" "" "" "0000044053" "00043808" "1" "00006" "00006" "2015-06-21 20:53:14" "" "" "SEQ" "DNA" "" "" "0000044054" "00043809" "1" "00006" "00006" "2015-06-21 20:58:57" "" "" "SEQ" "DNA" "" "" "0000044055" "00043810" "1" "00006" "00006" "2015-06-21 21:07:42" "" "" "arraySNP" "DNA" "" "" "0000044056" "00043811" "1" "00006" "00006" "2015-06-21 21:16:59" "" "" "arraySNP" "DNA" "" "" "0000104341" "00103883" "1" "00006" "00006" "2017-04-22 16:52:53" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000265015" "00263904" "1" "01164" "01164" "2019-08-30 19:56:57" "" "" "SEQ-NG-S" "DNA" "" "" "0000297965" "00296855" "1" "01164" "01164" "2020-04-14 14:17:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000311181" "00310033" "1" "03763" "03763" "2020-09-08 11:07:11" "" "" "SEQ-NG" "DNA" "" "" "0000311196" "00310047" "1" "03763" "03763" "2020-09-08 14:21:02" "" "" "SEQ-NG" "DNA" "" "" "0000311204" "00310052" "1" "03763" "03763" "2020-09-08 15:21:31" "" "" "SEQ-NG" "DNA" "" "" "0000311246" "00310097" "1" "03763" "03763" "2020-09-08 16:17:29" "" "" "SEQ-NG" "DNA" "" "" "0000311350" "00310201" "1" "03763" "03763" "2020-09-09 14:31:48" "" "" "SEQ-NG" "DNA" "" "" "0000311352" "00310203" "1" "03763" "03763" "2020-09-09 15:09:37" "" "" "SEQ-NG" "DNA" "" "" "0000311355" "00310204" "1" "03763" "03763" "2020-09-09 15:49:46" "" "" "SEQ-NG" "DNA" "" "" "0000311523" "00310373" "1" "03763" "03763" "2020-09-10 11:43:48" "" "" "SEQ-NG" "DNA" "" "" "0000311754" "00310602" "1" "03763" "03763" "2020-09-10 15:07:17" "" "" "SEQ-NG" "DNA" "" "" "0000311755" "00310603" "1" "03763" "03763" "2020-09-10 15:34:06" "" "" "SEQ-NG" "DNA" "" "" "0000312243" "00311092" "1" "03763" "03763" "2020-09-17 11:29:58" "" "" "SEQ-NG" "DNA" "" "" "0000312528" "00311369" "1" "03763" "03763" "2020-09-23 10:34:01" "" "" "SEQ-NG" "DNA" "" "" "0000312529" "00311370" "1" "03763" "03763" "2020-09-23 10:49:20" "" "" "SEQ-NG" "DNA" "" "" "0000312532" "00311372" "1" "03763" "03763" "2020-09-23 11:06:30" "" "" "SEQ-NG" "DNA" "" "" "0000321631" "00320445" "1" "01164" "01164" "2020-11-30 12:54:41" "" "" "SEQ-NG-I" "DNA" "" "" "0000360050" "00358820" "1" "00091" "00091" "2021-03-13 11:11:15" "" "" "SEQ-NG" "DNA" "" "" "0000360051" "00358821" "1" "00091" "00091" "2021-03-13 11:21:20" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{geneid}}" "0000039652" "ACP6" "0000039652" "NR2F1" "0000044052" "NR2F1" "0000044053" "NR2F1" "0000044054" "NR2F1" "0000044055" "NR2F1" "0000044056" "NR2F1" "0000104341" "NR2F1" "0000311181" "NR2F1" "0000311196" "NR2F1" "0000311204" "NR2F1" "0000311246" "NR2F1" "0000311350" "NR2F1" "0000311352" "NR2F1" "0000311355" "NR2F1" "0000311523" "NR2F1" "0000311754" "NR2F1" "0000311755" "NR2F1" "0000312243" "NR2F1" "0000312528" "NR2F1" "0000312529" "NR2F1" "0000312532" "NR2F1" "0000321631" "NR2F1" "0000360050" "NR2F1" "0000360051" "NR2F1" ## 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}}" "0000067255" "0" "90" "5" "92921073" "92921073" "subst" "0" "01158" "NR2F1_000002" "g.92921073G>C" "" "{PMID:Bosch 2014:24462372}, {DOI:Bosch 2014:10.1016/j.ajhg.2014.01.002}, {OMIM132890:0001}" "" "" "" "De novo" "-" "" "0" "" "" "g.93585367G>C" "" "pathogenic (dominant)" "" "0000067281" "0" "90" "5" "92921068" "92921068" "subst" "0" "01158" "NR2F1_000001" "g.92921068C>A" "" "{PMID:Bosch 2014:24462372}, {DOI:Bosch 2014:10.1016/j.ajhg.2014.01.002}, {OMIM132890:0002}, {PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "" "" "De novo" "-" "rs587777275" "0" "" "" "g.93585362C>A" "" "pathogenic (dominant)" "" "0000071858" "0" "90" "5" "92923914" "92923914" "subst" "0" "00006" "NR2F1_000003" "g.92923914T>C" "" "{PMID:Bosch 2014:24462372}, {DOI:Bosch 2014:10.1016/j.ajhg.2014.01.002}, {OMIM132890:0003}" "" "" "" "De novo" "-" "rs587777276" "0" "" "" "g.93588208T>C" "" "pathogenic (dominant)" "" "0000071859" "0" "90" "5" "92921064" "92921064" "subst" "0" "00006" "NR2F1_000004" "g.92921064G>A" "" "{PMID:Bosch 2014:24462372}, {DOI:Bosch 2014:10.1016/j.ajhg.2014.01.002}, {OMIM132890:0004}" "" "" "" "De novo" "-" "rs587777277" "0" "" "" "g.93585358G>A" "" "pathogenic (dominant)" "" "0000071860" "0" "50" "5" "92924068" "92924068" "subst" "0" "00006" "NR2F1_000005" "g.92924068G>C" "" "{PMID:Bosch 2014:24462372}, {DOI:Bosch 2014:10.1016/j.ajhg.2014.01.002}" "" "" "not associated with disease phneotype" "Germline" "no" "" "0" "" "" "g.93588362G>C" "" "VUS" "" "0000071861" "1" "90" "5" "92845157" "93679748" "" "0" "00006" "NR2F1_000006" "g.(?_92845157)_(93679748_?)del" "" "{PMID:Bosch 2014:24462372}, {DOI:Bosch 2014:10.1016/j.ajhg.2014.01.002}" "" "92845157–93679748del" "0.83 Mb deletion; variant on paternal allele, father (unaffected) not avialable" "Unknown" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000071862" "0" "90" "5" "91064110" "93896378" "" "0" "00006" "NR2F1_000006" "g.(?_91064110)_(93896378_?)del" "" "{PMID:Bosch 2014:24462372}, {DOI:Bosch 2014:10.1016/j.ajhg.2014.01.002}" "" "91064110–93896378del" "2.85 Mb deletion" "De novo" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170832" "1" "90" "5" "92921142" "92921142" "subst" "0" "00006" "NR2F1_000007" "g.92921142G>A" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "De novo" "-" "" "0" "" "" "g.93585436G>A" "" "pathogenic (dominant)" "" "0000293251" "0" "30" "5" "92929292" "92929292" "subst" "0.00000410988" "02330" "NR2F1_000014" "g.92929292C>T" "" "" "" "NR2F1(NM_005654.5):c.1016C>T (p.A339V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93593586C>T" "" "likely benign" "" "0000293252" "0" "30" "5" "92920966" "92920966" "subst" "0.000398974" "02330" "NR2F1_000008" "g.92920966G>C" "" "" "" "NR2F1(NM_005654.5):c.237G>C (p.Q79H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93585260G>C" "" "likely benign" "" "0000293253" "0" "10" "5" "92924169" "92924169" "subst" "0.00000556204" "02330" "NR2F1_000013" "g.92924169G>A" "" "" "" "NR2F1(NM_005654.5):c.991+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93588463G>A" "" "benign" "" "0000300417" "0" "70" "5" "92921165" "92921165" "subst" "0" "02326" "NR2F1_000010" "g.92921165T>C" "" "" "" "NR2F1(NM_005654.5):c.436T>C (p.C146R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93585459T>C" "" "likely pathogenic" "" "0000304521" "0" "50" "5" "92921181" "92921181" "subst" "0" "01943" "NR2F1_000011" "g.92921181T>C" "" "" "" "NR2F1(NM_005654.5):c.452T>C (p.M151T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93585475T>C" "" "VUS" "" "0000330464" "0" "50" "5" "92921013" "92921013" "subst" "0" "01804" "NR2F1_000009" "g.92921013G>T" "" "" "" "NR2F1(NM_005654.4):c.284G>T (p.(Gly95Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93585307G>T" "" "VUS" "" "0000341875" "0" "70" "5" "92921132" "92921132" "subst" "0" "02327" "NR2F1_000018" "g.92921132C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93585426C>T" "" "likely pathogenic" "" "0000342763" "0" "90" "5" "92929393" "92929393" "subst" "0" "02327" "NR2F1_000021" "g.92929393C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93593687C>T" "" "pathogenic" "" "0000345352" "0" "90" "5" "92924113" "92924113" "subst" "0" "02327" "NR2F1_000019" "g.92924113G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93588407G>C" "" "pathogenic" "" "0000345633" "0" "90" "5" "92921043" "92921043" "subst" "0" "02327" "NR2F1_000017" "g.92921043G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93585337G>A" "" "pathogenic" "" "0000345804" "0" "50" "5" "92920778" "92920778" "subst" "0" "02327" "NR2F1_000015" "g.92920778G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93585072G>C" "" "VUS" "" "0000347525" "0" "70" "5" "92924127" "92924127" "subst" "0" "02327" "NR2F1_000020" "g.92924127A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93588421A>C" "" "likely pathogenic" "" "0000348326" "0" "50" "5" "92920802" "92920802" "subst" "0" "02327" "NR2F1_000016" "g.92920802C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93585096C>G" "" "VUS" "" "0000348662" "0" "90" "5" "92921068" "92921068" "subst" "0" "02327" "NR2F1_000001" "g.92921068C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93585362C>A" "" "pathogenic" "" "0000526477" "0" "50" "5" "92920836" "92920836" "subst" "0" "01943" "NR2F1_000022" "g.92920836G>C" "" "" "" "NR2F1(NM_005654.5):c.107G>C (p.G36A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93585130G>C" "" "VUS" "" "0000526478" "0" "50" "5" "92921049" "92921049" "subst" "0" "01943" "NR2F1_000023" "g.92921049A>G" "" "" "" "NR2F1(NM_005654.5):c.320A>G (p.K107R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93585343A>G" "" "VUS" "" "0000526479" "0" "70" "5" "92921192" "92921192" "subst" "0" "02327" "NR2F1_000024" "g.92921192G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93585486G>A" "" "likely pathogenic" "" "0000526480" "0" "50" "5" "92929301" "92929301" "subst" "0" "01943" "NR2F1_000025" "g.92929301A>G" "" "" "" "NR2F1(NM_005654.5):c.1025A>G (p.E342G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93593595A>G" "" "VUS" "" "0000526481" "0" "70" "5" "92929372" "92929372" "subst" "0" "02327" "NR2F1_000026" "g.92929372C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93593666C>T" "" "likely pathogenic" "" "0000526482" "0" "50" "5" "92929434" "92929434" "subst" "0" "02325" "NR2F1_000027" "g.92929434G>T" "" "" "" "NR2F1(NM_005654.5):c.1158G>T (p.E386D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93593728G>T" "" "VUS" "" "0000526483" "0" "30" "5" "92929557" "92929557" "subst" "0.000188181" "02330" "NR2F1_000028" "g.92929557C>T" "" "" "" "NR2F1(NM_005654.5):c.*9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93593851C>T" "" "likely benign" "" "0000595596" "0" "70" "5" "92921018" "92921018" "subst" "0" "01164" "NR2F1_000029" "g.92921018C>T" "" "" "" "" "ACMG grading: PM6,PP3,PS1,PM2" "Germline" "" "" "0" "" "" "g.93585312C>T" "" "likely pathogenic (dominant)" "ACMG" "0000609868" "0" "30" "5" "92923867" "92923867" "subst" "0.000121868" "01943" "NR2F1_000030" "g.92923867C>T" "" "" "" "NR2F1(NM_005654.5):c.708C>T (p.N236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93588161C>T" "" "likely benign" "" "0000609870" "0" "70" "5" "92929459" "92929459" "subst" "0" "02327" "NR2F1_000032" "g.92929459G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93593753G>T" "" "likely pathogenic" "" "0000660673" "0" "70" "5" "92920807" "92920825" "del" "0" "01164" "NR2F1_000033" "g.92920807_92920825del" "" "" "" "" "ACMG grading: PVS1,PM2" "Germline" "" "" "0" "" "" "g.93585101_93585119del" "" "likely pathogenic (dominant)" "ACMG" "0000686484" "1" "90" "5" "92921042" "92921042" "subst" "0" "03763" "NR2F1_000034" "g.92921042G>A" "" "{PMID:Mio 2020:32412696}" "" "" "" "De novo" "yes" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000686518" "0" "70" "5" "92921042" "92921042" "subst" "0" "03763" "NR2F1_000034" "g.92921042G>A" "" "{PMID:Mio 2020:32412696}" "" "" "" "De novo" "yes" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000686573" "0" "90" "5" "92921048" "92921048" "subst" "0" "03763" "NR2F1_000035" "g.92921048A>G" "" "{PMID:Starosta 2020:32407885}" "" "" "" "De novo" "?" "" "" "" "" "" "" "pathogenic (dominant)" "" "0000686580" "1" "70" "5" "92929493" "92929493" "subst" "0" "03763" "NR2F1_000036" "g.92929493T>C" "" "{PMID:Jzela-Stanek:32337850}" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000686718" "0" "70" "5" "92920811" "92920811" "subst" "0" "03763" "NR2F1_000037" "g.92920811C>T" "" "{PMID:Bojanek(2019):31729143}" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000686721" "0" "70" "5" "92923672" "92923672" "subst" "0" "03763" "NR2F1_000038" "g.92923672C>G" "" "{PMID:Park 2019:31393201}" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000686729" "1" "90" "5" "92921015" "92921015" "subst" "0" "03763" "NR2F1_000040" "g.92921015A>G" "" "{PMID:Martin-Hernandez 2019:29410510}" "" "" "" "De novo" "?" "" "" "" "" "" "" "pathogenic (dominant)" "" "0000686954" "1" "70" "5" "92920986" "92920986" "subst" "0" "03763" "NR2F1_000039" "g.92920986G>T" "" "{PMID:Kaiwar 2017:28963436]}" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000687259" "1" "70" "5" "92921111" "92921111" "subst" "0" "03763" "NR2F1_000041" "g.92921111T>C" "" "{PMID:Chen 2017:26986877}" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000687260" "1" "70" "5" "92921142" "92921142" "subst" "0" "03763" "NR2F1_000007" "g.92921142G>A" "" "{PMID:Chen 2017:26986877}" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000687752" "1" "70" "5" "92920832" "92920842" "delins" "0" "03763" "NR2F1_000053" "g.92920832_92920842delinsCGCCGCCGC" "" "{PMID:Chen 2017:26986877}" "" "" "" "De novo" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000687753" "1" "70" "5" "92921020" "92921020" "del" "0" "03763" "NR2F1_000055" "g.92921020del" "" "{PMID:Chen 2017:26986877}" "" "291delC (His79Hisfs*22)" "" "De novo" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000687773" "1" "70" "5" "92920731" "92920733" "delins" "0" "03763" "NR2F1_000042" "g.92920731_92920733delinsTGG" "" "{PMID:Chen 2017:26986877}" "" "" "" "De novo" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000687776" "1" "70" "5" "92856299" "93054636" "del" "0" "03763" "NR2F1_000043" "g.(?_92856299)_(93054636_?)del" "" "{PMID:Chen 2017:26986877}" "" "92856299_93054636 del" "0.2Mb deletion" "De novo" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000687777" "1" "70" "5" "92910393" "93806933" "del" "0" "03763" "NR2F1_000043" "g.(?_92910393)_(93806933_?)del" "" "{PMID:Chen 2017:26986877}" "" "92910393_93806933del" "0.9Mb deletion" "Unknown" "yes" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000687778" "11" "70" "5" "92910393" "93806933" "del" "0" "03763" "NR2F1_000043" "g.(?_92910393)_(93806933_?)del" "" "{PMID:Chen 2017:26986877}" "" "" "0.9Mb deletion" "Uniparental disomy, paternal allele" "yes" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000687779" "1" "70" "5" "92878375" "94046216" "del" "0" "03763" "NR2F1_000045" "g.(?_92878375)_(94046216_?)del" "" "{PMID:Chen 2017:26986877}" "" "92878375_94046216del" "1.2Mb deletion" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000687784" "0" "70" "5" "92845157" "93679748" "del" "0" "03763" "NR2F1_000046" "g.(?_92845157)_(93679748_?)del" "" "{PMID:Bosch 2014:24462372}" "" "" "0.83Mb deletion" "Unknown" "?" "" "0" "" "arr 5q15(92845157–93679748)x1" "" "" "likely pathogenic (dominant)" "" "0000687785" "1" "70" "5" "91064110" "93896378" "del" "0" "03763" "NR2F1_000047" "g.(?_91064110)_(93896378_?)del" "" "{PMID:Bosch 2014:24462372}" "" "" "2.85Mb deletion" "De novo" "?" "" "0" "" "arr SNP 5q14.3q15(SNP_A-1810903–SNP_A-1788922)x1" "" "" "likely pathogenic (dominant)" "" "0000693796" "1" "70" "5" "92920731" "92920731" "subst" "0" "03763" "NR2F1_000048" "g.92920731T>C" "" "{PMID:Bertacchi 2020:32484994}" "" "" "" "De novo" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000693798" "1" "70" "5" "92924127" "92924128" "del" "0" "03763" "NR2F1_000061" "g.92924127_92924128del" "" "{PMID:Bertacchi 2020:32484994}" "" "967_968delAA" "" "De novo" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000693799" "1" "70" "5" "92717119" "93298594" "del" "0" "03763" "NR2F1_000049" "g.(?_92717119)_(93298594_?)del" "" "{PMID:Al-Kateb 2013:23300014}" "" "hg18 del 92,742,875 to 93,324,350 bp" "582 kb deletion incl. FLJ42709, NR2F1, FAM172A, POU5F2, MIR2277" "De novo" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000693800" "0" "70" "5" "92642215" "92929408" "del" "0" "03763" "NR2F1_000050" "g.(92593206_92691223)_(92784673_93074143)del" "" "{PMID:Brown 2010:19353646}" "" "" "NR2F1 and AK124699 removed, C5ORF21 partially deleted, cryptic 450-460kB deletion near both q15 and 5q33.2 break points" "De novo" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000693918" "0" "70" "5" "90566268" "95580992" "del" "0" "03763" "NR2F1_000062" "g.(?_90566268)_(95580992_?)del" "" "{PMID:Chen 2017:26986877}" "" "90566268_95580992del" "5Mb deletion" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000694116" "21" "70" "5" "92414689" "94864863" "del" "0" "03763" "NR2F1_000063" "g.92414689_94864863del" "" "{PMID:Rech 2020:32275123}" "" "chr5:92,414,689-94,864,863 (hg19/GRCh37)" "" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000694117" "0" "70" "5" "92594997" "93569402" "del" "0" "03763" "NR2F1_000064" "g.92594997_93569402del" "" "{PMID:Rech 2020:32275123}" "" "chr5:92,594,997-93,569,402 (hg19)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000694120" "0" "70" "5" "92920731" "92920731" "subst" "0" "03763" "NR2F1_000048" "g.92920731T>C" "" "{PMID:Rech 2020:32275123}" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000698032" "1" "70" "5" "92921095" "92921095" "subst" "0" "03763" "NR2F1_000086" "g.92921095C>G" "" "{PMID:Balciuniene 2019:30977854}" "" "" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000704550" "0" "70" "5" "92929444" "92929446" "del" "0" "01164" "NR2F1_000087" "g.92929444_92929446del" "" "" "" "" "ACMG: PM2; PM4; PP3 class 3" "Germline" "?" "" "" "" "" "" "{CV:000420405}" "VUS (!)" "ACMG" "0000720539" "0" "90" "5" "92923762" "92923765" "del" "0" "01943" "NR2F1_000088" "g.92923762_92923765del" "" "" "" "NR2F1(NM_005654.5):c.603_606delGCGC (p.R202Tfs*154)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720540" "0" "50" "5" "92929423" "92929425" "del" "0" "02329" "NR2F1_000031" "g.92929423_92929425del" "" "" "" "NR2F1(NM_005654.5):c.1147_1149delTCC (p.S383del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720541" "0" "70" "5" "92929460" "92929460" "subst" "0" "02327" "NR2F1_000089" "g.92929460G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000759728" "1" "99" "5" "92924013" "92924013" "subst" "0" "00091" "NR2F1_000090" "g.92924013C>A" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000759729" "1" "77" "5" "92924124" "92924124" "subst" "0" "00091" "NR2F1_000091" "g.92924124T>A" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" ## 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 NR2F1 ## 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}}" "0000067255" "00014783" "90" "344" "0" "344" "0" "c.344G>C" "r.(?)" "p.(Arg115Pro)" "1" "0000067281" "00014783" "90" "339" "0" "339" "0" "c.339C>A" "r.(?)" "p.(Ser113Arg)" "1" "0000071858" "00014783" "90" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Leu252Pro)" "2" "0000071859" "00014783" "90" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.(Arg112Lys)" "1" "0000071860" "00014783" "50" "909" "0" "909" "0" "c.909G>C" "r.(?)" "p.(Gln303His)" "2" "0000071861" "00014783" "90" "-1" "0" "1273" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_3_" "0000071862" "00014783" "90" "-1" "0" "1273" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_3_" "0000170832" "00014783" "90" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Cys138Tyr)" "1" "0000293251" "00014783" "30" "1016" "0" "1016" "0" "c.1016C>T" "r.(?)" "p.(Ala339Val)" "" "0000293252" "00014783" "30" "237" "0" "237" "0" "c.237G>C" "r.(?)" "p.(Gln79His)" "" "0000293253" "00014783" "10" "991" "19" "991" "19" "c.991+19G>A" "r.(=)" "p.(=)" "" "0000300417" "00014783" "70" "436" "0" "436" "0" "c.436T>C" "r.(?)" "p.(Cys146Arg)" "" "0000304521" "00014783" "50" "452" "0" "452" "0" "c.452T>C" "r.(?)" "p.(Met151Thr)" "" "0000330464" "00014783" "50" "284" "0" "284" "0" "c.284G>T" "r.(?)" "p.(Gly95Val)" "" "0000341875" "00014783" "70" "403" "0" "403" "0" "c.403C>T" "r.(?)" "p.(Arg135Cys)" "" "0000342763" "00014783" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Ter)" "" "0000345352" "00014783" "90" "954" "0" "954" "0" "c.954G>C" "r.(?)" "p.(Glu318Asp)" "" "0000345633" "00014783" "90" "314" "0" "314" "0" "c.314G>A" "r.(?)" "p.(Gly105Asp)" "" "0000345804" "00014783" "50" "49" "0" "49" "0" "c.49G>C" "r.(?)" "p.(Gly17Arg)" "" "0000347525" "00014783" "70" "968" "0" "968" "0" "c.968A>C" "r.(?)" "p.(Lys323Thr)" "" "0000348326" "00014783" "50" "73" "0" "73" "0" "c.73C>G" "r.(?)" "p.(Pro25Ala)" "" "0000348662" "00014783" "90" "339" "0" "339" "0" "c.339C>A" "r.(?)" "p.(Ser113Arg)" "" "0000526477" "00014783" "50" "107" "0" "107" "0" "c.107G>C" "r.(?)" "p.(Gly36Ala)" "" "0000526478" "00014783" "50" "320" "0" "320" "0" "c.320A>G" "r.(?)" "p.(Lys107Arg)" "" "0000526479" "00014783" "70" "463" "0" "463" "0" "c.463G>A" "r.(?)" "p.(Ala155Thr)" "" "0000526480" "00014783" "50" "1025" "0" "1025" "0" "c.1025A>G" "r.(?)" "p.(Glu342Gly)" "" "0000526481" "00014783" "70" "1096" "0" "1096" "0" "c.1096C>T" "r.(?)" "p.(Arg366Cys)" "" "0000526482" "00014783" "50" "1158" "0" "1158" "0" "c.1158G>T" "r.(?)" "p.(Glu386Asp)" "" "0000526483" "00014783" "30" "1281" "0" "1281" "0" "c.*9C>T" "r.(=)" "p.(=)" "" "0000595596" "00014783" "70" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(His97Tyr)" "" "0000609868" "00014783" "30" "708" "0" "708" "0" "c.708C>T" "r.(?)" "p.(Asn236=)" "" "0000609870" "00014783" "70" "1183" "0" "1183" "0" "c.1183G>T" "r.(?)" "p.(Gly395Cys)" "" "0000660673" "00014783" "70" "78" "0" "96" "0" "c.78_96del" "r.(?)" "p.(Gln28Alafs*85)" "" "0000686484" "00014783" "90" "313" "0" "313" "0" "c.313G>A" "r.(?)" "p.(Gly105Ser)" "" "0000686518" "00014783" "70" "313" "0" "313" "0" "c.313G>A" "r.(?)" "p.(Gly105Ser)" "" "0000686573" "00014783" "90" "319" "0" "319" "0" "c.319A>G" "r.(?)" "p.(Lys107Glu)" "" "0000686580" "00014783" "70" "1217" "0" "1217" "0" "c.1217T>C" "r.(?)" "p.(Met406Thr)" "" "0000686718" "00014783" "70" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Gln28*)" "" "0000686721" "00014783" "70" "513" "0" "513" "0" "c.513C>G" "r.(?)" "p.(Tyr171*)" "" "0000686729" "00014783" "90" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Lys96Glu)" "" "0000686954" "00014783" "70" "257" "0" "257" "0" "c.257G>T" "r.(?)" "p.(Cys86Phe)" "" "0000687259" "00014783" "70" "382" "0" "382" "0" "c.382T>C" "r.(?)" "p.(Cys128Arg)" "" "0000687260" "00014783" "70" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Cys138Tyr)" "" "0000687752" "00014783" "70" "103" "0" "113" "0" "c.103_113delinsCGCCGCCGC" "r.(?)" "p.(Gly35Argfs*361)" "" "0000687753" "00014783" "70" "291" "0" "291" "0" "c.291del" "r.(?)" "p.(Tyr98Thrfs*21)" "" "0000687773" "00014783" "70" "2" "0" "4" "0" "c.2_4delinsTGG" "r.(=)" "p.(=)" "" "0000687776" "00014783" "70" "0" "0" "0" "0" "c.-1687_*240{0}" "r.0" "p.0" "_1_3_" "0000687777" "00014783" "70" "0" "0" "0" "0" "c.-1687_*240{0}" "r.0" "p.0" "_1_3_" "0000687778" "00014783" "70" "0" "0" "0" "0" "c.-1687_*240{0}" "r.0" "p.0" "_1_3_" "0000687779" "00014783" "70" "0" "0" "0" "0" "c.-1687_*240{0}" "r.0" "p.0" "_1_3_" "0000687784" "00014783" "70" "0" "0" "0" "0" "c.-1687_*240{0}" "r.0" "p.0" "_1_3_" "0000687785" "00014783" "70" "0" "0" "0" "0" "c.-1687_*240{0}" "r.0" "p.0" "_1_3_" "0000693796" "00014783" "70" "2" "0" "2" "0" "c.2T>C" "r.?" "p.?" "" "0000693798" "00014783" "70" "968" "0" "969" "0" "c.968_969del" "r.(?)" "p.(Lys323Serfs*73)" "" "0000693799" "00014783" "70" "0" "0" "0" "0" "c.-1687_*240{0}" "r.0" "p.0" "_1_3_" "0000693800" "00014783" "70" "0" "0" "0" "0" "c.-1687_*240{0}" "r.0" "p.0" "_1_3_" "0000693918" "00014783" "70" "0" "0" "0" "0" "c.-1687_*240{0}" "r.0" "p.0" "_1_3_" "0000694116" "00014783" "70" "-506041" "0" "1936587" "0" "c.-506041_*1935315del" "r.0?" "p.0?" "" "0000694117" "00014783" "70" "-325733" "0" "641126" "0" "c.-325733_*639854del" "r.0?" "p.0?" "" "0000694120" "00014783" "70" "2" "0" "2" "0" "c.2T>C" "r.?" "p.?" "" "0000698032" "00014783" "70" "366" "0" "366" "0" "c.366C>G" "r.(?)" "p.(Cys122Trp)" "" "0000704550" "00014783" "70" "1168" "0" "1170" "0" "c.1168_1170del" "r.(?)" "p.(Phe390del)" "3" "0000720539" "00014783" "90" "603" "0" "606" "0" "c.603_606del" "r.(?)" "p.(Arg202Thrfs*154)" "" "0000720540" "00014783" "50" "1147" "0" "1149" "0" "c.1147_1149del" "r.(?)" "p.(Ser383del)" "" "0000720541" "00014783" "70" "1184" "0" "1184" "0" "c.1184G>A" "r.(?)" "p.(Gly395Asp)" "" "0000759728" "00014783" "99" "854" "0" "854" "0" "c.854C>A" "r.(?)" "p.(Ser285*)" "2" "0000759729" "00014783" "77" "965" "0" "965" "0" "c.965T>A" "r.(?)" "p.(Leu322His)" "2" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 27 "{{screeningid}}" "{{variantid}}" "0000039641" "0000067255" "0000039652" "0000067281" "0000044052" "0000071858" "0000044053" "0000071859" "0000044054" "0000071860" "0000044055" "0000071861" "0000044056" "0000071862" "0000104341" "0000170832" "0000265015" "0000595596" "0000297965" "0000660673" "0000311181" "0000686484" "0000311196" "0000686518" "0000311204" "0000686573" "0000311246" "0000686580" "0000311350" "0000686718" "0000311352" "0000686721" "0000311355" "0000686729" "0000311523" "0000686954" "0000311754" "0000687259" "0000311755" "0000687260" "0000312243" "0000693800" "0000312528" "0000694116" "0000312529" "0000694117" "0000312532" "0000694120" "0000321631" "0000704550" "0000360050" "0000759728" "0000360051" "0000759729"