### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = EIF2C2)
# 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}}"
"EIF2C2" "eukaryotic translation initiation factor 2C, 2" "8" "q24" "unknown" "NC_000008.10" "UD_132610827404" "" "https://www.LOVD.nl/AGO2" "" "1" "3263" "27161" "606229" "1" "1" "1" "1" "NOTE: gene name changed from EIF2C2 to AGO2\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from EIF2C2 to AGO2" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2020-12-24 16:50:58" "00000" "2025-11-01 13:22:20"
## Transcripts ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00000939" "EIF2C2" "transcript variant 2" "001" "NM_001164623.1" "" "NP_001158095.1" "" "" "" "-41" "3357" "2478" "141541264" "141645646" "00000" "2012-09-13 13:00:11" "" ""
"00025967" "EIF2C2" "transcript variant 1" "002" "NM_012154.3" "" "NP_036286.2" "" "" "" "-41" "3459" "2580" "141645646" "141541264" "00000" "2025-01-12 11:09:42" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 3
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" ""
"01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"EIF2C2" "05611"
## Individuals ## Do not remove or alter this header ##
## Count = 24
"{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}"
"00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00324897" "" "" "" "1" "" "00006" "{PMID:Lessel 2020:33199684}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Russia" "" "0" "" "" "" "Pat1"
"00324898" "" "" "" "1" "" "00006" "{PMID:Lessel 2020:33199684}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Pat2"
"00324899" "" "" "" "1" "" "00006" "{PMID:Lessel 2020:33199684}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Pat3"
"00324900" "" "" "" "1" "" "00006" "{PMID:Lessel 2020:33199684}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Turkey" "" "0" "" "" "" "Pat4"
"00324901" "" "" "" "1" "" "00006" "{PMID:Lessel 2020:33199684}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Pat5"
"00324902" "" "" "" "1" "" "00006" "{PMID:Lessel 2020:33199684}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Netherlands" "" "0" "" "" "" "Pat6"
"00324903" "" "" "" "1" "" "00006" "{PMID:Lessel 2020:33199684}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Netherlands" "" "0" "" "" "" "Pat7"
"00324904" "" "" "" "1" "" "00006" "{PMID:Lessel 2020:33199684}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Pat8"
"00324905" "" "" "" "2" "" "00006" "{PMID:Lessel 2020:33199684}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "white" "Pat9"
"00324906" "" "" "00324905" "1" "" "00006" "{PMID:Lessel 2020:33199684}" "mother Pat9" "" "" "" "" "0" "" "" "white" "Pat10"
"00324907" "" "" "" "1" "" "00006" "{PMID:Lessel 2020:33199684}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Pat11"
"00324908" "" "" "" "1" "" "00006" "{PMID:Lessel 2020:33199684}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Pat12"
"00324909" "" "" "" "1" "" "00006" "{PMID:Lessel 2020:33199684}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Pat13"
"00324910" "" "" "" "1" "" "00006" "{PMID:Lessel 2020:33199684}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Pat14"
"00324911" "" "" "" "1" "" "00006" "{PMID:Lessel 2020:33199684}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "Europe" "Pat15"
"00324912" "" "" "" "1" "" "00006" "{PMID:Lessel 2020:33199684}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Pat16"
"00324913" "" "" "" "2" "" "00006" "{PMID:Lessel 2020:33199684}" "2-generation family, affected twins, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "India" "Pat17"
"00324914" "" "" "00324913" "1" "" "00006" "{PMID:Lessel 2020:33199684}" "twin" "F" "" "" "" "0" "" "" "India" "Pat18"
"00324915" "" "" "" "1" "" "00006" "{PMID:Lessel 2020:33199684}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Pat19"
"00324916" "" "" "" "1" "" "00006" "{PMID:Lessel 2020:33199684}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Pat20"
"00324917" "" "" "" "1" "" "00006" "{PMID:Lessel 2020:33199684}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Pat21"
"00415405" "" "" "" "1" "" "00006" "{PMID:Zanoni 2021:33941880}" "2 generation family, 1 affected, unaffected non carrier parents" "M" "no" "" "" "0" "" "" "white" "Pat12-I"
"00441583" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "control" "" "" "France" "" "0" "" "" "" "33026-5"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 24
"{{individualid}}" "{{diseaseid}}"
"00000208" "01157"
"00324897" "05611"
"00324898" "05611"
"00324899" "05611"
"00324900" "05611"
"00324901" "05611"
"00324902" "05611"
"00324903" "05611"
"00324904" "05611"
"00324905" "05611"
"00324906" "05611"
"00324907" "05611"
"00324908" "05611"
"00324909" "05611"
"00324910" "05611"
"00324911" "05611"
"00324912" "05611"
"00324913" "05611"
"00324914" "05611"
"00324915" "05611"
"00324916" "05611"
"00324917" "05611"
"00415405" "05611"
"00441583" "00000"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 01157, 05611
## Count = 23
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}"
"0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" ""
"0000243393" "05611" "00324897" "00006" "Isolated (sporadic)" "13m" "birth 38w, weight 2745g (-1.3SD), length 47cm (-1.8SD), OFC 35cm (+0.1SD); weight 7.1kg (-2.8SD), length 73.5cm (-1.4SD), OFC 46.5cm (-0.7SD); intellectual disability; motor developmental delay; not walking; impaired speech development; muscular hypotonia; no strabism; no visual impairment; no myopia/hyperopia; no hearing impairment; epicanthic folds; no thin upper lip; frontal bossing; no open mouth appearance; no deep set eyes; no upslanting palpebral fissures; no congenital anomalies of the skull; no helix anomalies; no broad nasal bridge; neonatal feeding difficulties" "" "" "" "" "" "" "" "" "neurodevelopmental delay"
"0000243394" "05611" "00324898" "00006" "Isolated (sporadic)" "4y4m" "birth 41+1w, weight 2980g (-1.7SD), length 49cm (-1.8SD), OFC 38cm (+1.6SD); weight 15.7kg (-0.9SD), length 98.5cm (-1.9SD), OFC 52cm (+0.5SD); intellectual disability; motor developmental delay; not walking; no speech; impaired receptive language; muscular hypotonia; no autistic features; agenesis of corpus callosum / absent septum pellucidum; not walking without support; no attention deficit hyperactivity disorder; febrile seizures; strabism; visual impairment; no agressive behaviour; central apnea in postnatal period; hyperopia; hearing impairment; epicanthic folds; thin upper lip; no dental anomalies; no frontal bossing; open mouth appearance; no deep set eyes; upslanting palpebral fissures; plagiocephaly; hypoplasia; no broad nasal bridge; neonatal feeding difficulties; mild lumbal scoliosis; no gastroesophageal reflux; patent ductus arteriosus, patent formane ovale; cryptorchidism" "" "" "" "" "" "" "" "" "neurodevelopmental delay"
"0000243395" "05611" "00324899" "00006" "Isolated (sporadic)" "17y6m" "birth 42w, weight 3685g (+0.1SD), length 52.07cm (-0.2SD),, OFC 37.5cm (+1.6SD); weight 48.9kg (-1.4SD), length 152.4cm (-2.4SD), 13y-OFC 56cm (+1.5 SD); intellectual disability; motor developmental delay; not walking; no speech; impaired receptive language; muscular hypotonia; mildly prominent ventricles, mildly dysplastic corpus callosum; not walking without support; no attention deficit hyperactivity disorder; seizures, Lennox-Gastaut syndrome; no strabism; visual impairment; agressive behaviour; central apnea in postnatal period; no myopia/hyperopia; no hearing impairment; no epicanthic folds; thin upper lip; no dental anomalies; frontal bossing; open mouth appearance; deep set eyes; upslanting palpebral fissures; plagiocephaly; hypoplasia; no broad nasal bridge; neonatal feeding difficulties; hip dysplasia; gastroesophageal reflux; short QT interval" "" "" "" "" "" "" "" "" "neurodevelopmental delay"
"0000243396" "05611" "00324900" "00006" "Isolated (sporadic)" "2y6m" "birth 39w, weight 1885g (-3.5SD), OFC 32.8cm (-2.0SD); weight 9.91kg (-1.8SD), length 83cm (-2.5SD), 1y-OFC 44.6 cm (-1.3 SD); intellectual disability; motor developmental delay; 24m-walk; impaired speech development; muscular hypotonia; white matter abnormalities; no strabism; visual impairment; no abnormal respirations; no myopia/hyperopia; no hearing impairment; epicanthic folds; thin upper lip; no dental anomalies; frontal bossing; no open mouth appearance; no deep set eyes; no upslanting palpebral fissures; no congenital anomalies of the skull; no helix anomalies; broad nasal bridge; neonatal feeding difficulties; no skeletal anomalies; no gastroesophageal reflux; pulmonary valve stenosis" "" "" "" "" "" "" "" "" "neurodevelopmental delay"
"0000243397" "05611" "00324901" "00006" "Isolated (sporadic)" "11y9m" "birth 37+5w, weight 2230g (-1.71SD) length 45cm (-1.87SD), OFC 33cm (-0.64SD); weight 19.6kg (-4.5SD), length 118cm (-4.5SD), OFC 51.3cm (-1.7SD); intellectual disability; motor developmental delay; not walking; no speech; impaired receptive language; muscular hypotonia; autistic features; MRI cerebral normal; gait ataxic-dyskinetic, not walking without support; no attention deficit hyperactivity disorder; seizures, refractory; no strabism; no visual impairment; no agressive behaviour; hypopnea & slep apnea; no myopia/hyperopia; no hearing impairment; epicanthic folds; thin upper lip; teeth discoloration, dental plaque; frontal bossing; open mouth appearance; no deep set eyes; upslanting palpebral fissures; no congenital anomalies of the skull; no helix anomalies; no broad nasal bridge; neonatal feeding difficulties; no skeletal anomalies; gastroesophageal reflux; patent foramen ovale, bicuspid aortic valve, cryptogenic heart block (1-3°) from 6m-walk of life, necessitating pacemaker implantation; sensitive to sunlight (necessitating sunglasses)" "" "" "" "" "" "" "" "" "neurodevelopmental delay"
"0000243398" "05611" "00324902" "00006" "Isolated (sporadic)" "1y6m" "birth 38w, weight 2300g (-2.0SD),, length 40cm (-2.5SD), OFC 33.3cm (-1.0SD); weight 9.1kg (-1.4SD), length 74cm (-2.4SD), 5.5m-OFC 41cm (-1.35SD); intellectual disability; motor developmental delay; not walking; no speech; muscular hypotonia; delayed myelinisation of corpus callosum; not walking; seizures, absences, no medication; strabism; no visual impairment; no abnormal respirations; no hearing impairment; epicanthic folds; thin upper lip; frontal bossing; no open mouth appearance; no deep set eyes; upslanting palpebral fissures; scaphocephaly, open cranial sutures; no helix anomalies; no broad nasal bridge; neonatal feeding difficulties; short toes, proximal implant dig III-IV left foot; gastroesophageal reflux; no heart anomalies" "" "" "" "" "" "" "" "" "neurodevelopmental delay"
"0000243399" "05611" "00324903" "00006" "Isolated (sporadic)" "6y10m" "birth 42+1w6w-weight 5800g (+2.0SD), length 53cm (-0.2 (six weeks)SD), OFC 42cm (+2.5 (six weeks)SD); weight 26,8 kg (+1,07SD), length 123,1 cm (-0,4SD), 30m-OFC 53cm (+1.7SD); intellectual disability; motor developmental delay; 25m-walk; impaired speech development; no muscular hypotonia; autistic features; (benign external) hydrocephalus, wide liquor spaces; dribbling gait, walks mostly at forefoot; no attention deficit hyperactivity disorder; no seizures; strabism; no visual impairment; no agressive behaviour; no abnormal respirations; no myopia/hyperopia; no hearing impairment; no epicanthic folds; no thin upper lip; no dental anomalies; frontal bossing; no open mouth appearance; deep set eyes; no upslanting palpebral fissures; plagiocephaly; no helix anomalies; no broad nasal bridge; no neonatal feeding difficulties; no skeletal anomalies; no gastroesophageal reflux; no heart anomalies" "" "" "" "" "" "" "" "" "neurodevelopmental delay"
"0000243400" "05611" "00324904" "00006" "Isolated (sporadic)" "16y" "birth 42w, weight 4160g (+0.78SD), length 55cm (+0.67SD),, OFC 35cm (-0.79SD); weight 60,3/+0,2SD), length 178/+0,1SD), OFC 55cm (-0.3SD); intellectual disability; motor developmental delay; 18m-walk; impaired speech development; impaired receptive language; no muscular hypotonia; autistic features; MRI cerebral normal; gait dyskinetic; no attention deficit hyperactivity disorder; no seizures; no strabism; no visual impairment; no agressive behaviour; no abnormal respirations; no myopia/hyperopia; no hearing impairment; epicanthic folds; no thin upper lip; no dental anomalies; no frontal bossing; no open mouth appearance; deep set eyes; no upslanting palpebral fissures; no congenital anomalies of the skull; no helix anomalies; no broad nasal bridge; no neonatal feeding difficulties; no skeletal anomalies; no gastroesophageal reflux; no heart anomalies" "" "" "" "" "" "" "" "" "neurodevelopmental delay"
"0000243401" "05611" "00324905" "00006" "Familial, autosomal dominant" "7y" "birth 38w+4d, weight 4418g (+2.6SD); weight 29kg (+1.1SD), length 126cm (+0.3SD), OFC 57.5cm (+3.8SD); mild intellectual disability; motor developmental delay; 32m-walk; impaired speech development; impaired receptive language; muscular hypotonia; no autistic features; prominence of extra-axial space and thin corpus callosum; gait \"akward\"; attention deficit hyperactivity disorder; seizures; no strabism; no visual impairment; no agressive behaviour; sleep apnea; no myopia/hyperopia; no hearing impairment; remnant/mild epicanthic folds; thin upper lip; no dental anomalies; frontal bossing; open mouth appearance; no deep set eyes; no upslanting palpebral fissures; plagiocephaly; small ears; no broad nasal bridge; neonatal feeding difficulties; 11 ribs left-side; no gastroesophageal reflux; no heart anomalies" "" "" "" "" "" "" "" "" "neurodevelopmental delay"
"0000243402" "05611" "00324906" "00006" "Unknown" "28y" "birth term; weight 67kgSD), length 165cm; mild intellectual disability; motor developmental delay; 24m-walk; impaired speech development; no muscular hypotonia; no autistic features; no gait abnormalities; no attention deficit hyperactivity disorder; no seizures; no strabism; no visual impairment; no agressive behaviour; no myopia/hyperopia; no hearing impairment; no epicanthic folds; thin upper lip; no dental anomalies; frontal bossing; no open mouth appearance; deep set eyes; no upslanting palpebral fissures; no congenital anomalies of the skull; hypoplasia; no broad nasal bridge; no skeletal anomalies; no heart anomalies" "" "" "" "" "" "" "" "" "neurodevelopmental delay"
"0000243403" "05611" "00324907" "00006" "Isolated (sporadic)" "3y6m" "birth 40wweight 4.1g (+0.2SD), length 51/-0.8SD),, OFC 34/-2.1SD); weight 21,1kg (+2.2SD), length 104,7cm (+1.2SD), OFC 49,5cm (-0.2SD); intellectual disability; motor developmental delay; 30m-walk; impaired speech development; impaired receptive language; muscular hypotonia; autistic features; MRI cerebral normal; gait abnormalities; seizures; no strabism; no visual impairment; no agressive behaviour; no abnormal respirations; no myopia/hyperopia; no hearing impairment; epicanthic folds; no thin upper lip; no dental anomalies; no frontal bossing; no open mouth appearance; no deep set eyes; no upslanting palpebral fissures; no congenital anomalies of the skull; no helix anomalies; no broad nasal bridge; neonatal feeding difficulties; no skeletal anomalies; gastroesophageal reflux; no heart anomalies; prominent metopic suture, eczema" "" "" "" "" "" "" "" "" "neurodevelopmental delay"
"0000243404" "05611" "00324908" "00006" "Isolated (sporadic)" "22y" "birth 42w; weight mildly obeseSD), length 168cm (-0.5SD), OFC 57cm (+1SD); intellectual disability (IQ 58); motor developmental delay; 18m-walk; impaired speech development; no muscular hypotonia; autistic features; mildly prominent ventricles and liquor spaces; no gait abnormalities; seizures; no strabism; no visual impairment; agressive behaviour; no abnormal respirations; no myopia/hyperopia; no hearing impairment; no epicanthic folds; no thin upper lip; malocclusion of teeth; no frontal bossing; no open mouth appearance; deep set eyes; upslanting palpebral fissures; no congenital anomalies of the skull; no helix anomalies; no broad nasal bridge; no neonatal feeding difficulties; right foot postaxial polydactyly, mild syndactyly dig II-III and syndactyly dig IV-V, short fifth toe, left foot syndactyly toes II-III .; no gastroesophageal reflux; no heart anomalies" "" "" "" "" "" "" "" "" "neurodevelopmental delay"
"0000243405" "05611" "00324909" "00006" "Isolated (sporadic)" "5y5m" "birth 39wweight 3452g (-0.1SD); weight 20.5/+1.1 SD), length 110cm (-1,3SD), OFC 53cm (+1.0SD); intellectual disability (IQ 55); minimal motor developmental delay; 18m-walk; impaired speech development; no impaired receptive language; no muscular hypotonia; no autistic features; no gait abnormalities; attention deficit hyperactivity disorder; no seizures; no strabism; no visual impairment; no agressive behaviour; no abnormal respirations; no myopia/hyperopia; no hearing impairment (left minor conductive); epicanthic folds; thin upper lip; no dental anomalies; no frontal bossing; open mouth appearance; deep set eyes; no upslanting palpebral fissures; no congenital anomalies of the skull; no helix anomalies; no broad nasal bridge; no neonatal feeding difficulties; no skeletal anomalies; no gastroesophageal reflux; no heart anomalies" "" "" "" "" "" "" "" "" "neurodevelopmental delay"
"0000243406" "05611" "00324910" "00006" "Isolated (sporadic)" "5y6m" "birth 39w, weight 2900g (-1.0SD) length 47cm (-1.9SD),, OFC 35.5cm (+0.7SD); weight 29kg (+2.0SD), length 99.5cm (-2.0SD), OFC 49cm (0SD); intellectual disability; motor developmental delay; 23m-walk; impaired speech development; impaired receptive language; muscular hypotonia; no autistic features; white matter abnormnailities, thin corpus calosum, arachnoid cysts; no gait abnormalities; attention deficit hyperactivity disorder; febrile seizures; strabism; visual impairment; no agressive behaviour; no abnormal respirations; no myopia/hyperopia; no hearing impairment; no epicanthic folds; no thin upper lip; premature permanent dentition; frontal bossing; no open mouth appearance; deep set eyes; no upslanting palpebral fissures; no congenital anomalies of the skull; no helix anomalies; broad nasal bridge; neonatal feeding difficulties; no skeletal anomalies; no gastroesophageal reflux; pulmonary valve stenosis, atrial septal defect; transitory hyperphagia, omega-shaped epiglottis, high tolerance for pain" "" "" "" "" "" "" "" "" "neurodevelopmental delay"
"0000243407" "05611" "00324911" "00006" "Isolated (sporadic)" "17y" "birth 41w, weight 4140g (+0.9SD); weight 150kg (+4.1SD), length 180cm (+0.1SD), 10y10m-OFC 57/+2SD); borderline intellectual disability; motor developmental delay; 18m-walk; impaired speech development; impaired receptive language; muscular hypotonia; autistic features; MRI cerebral normal; no attention deficit hyperactivity disorder; no seizures; no strabism; visual impairment; no agressive behaviour; no abnormal respirations; myopia/hyperopia; no hearing impairment; epicanthic folds; no thin upper lip; no dental anomalies; no frontal bossing; no open mouth appearance; deep set eyes; no upslanting palpebral fissures; plagiocephaly; hypoplasia; no broad nasal bridge; no neonatal feeding difficulties; no skeletal anomalies; no gastroesophageal reflux; hydronephrosis" "" "" "" "" "" "" "" "" "neurodevelopmental delay"
"0000243408" "05611" "00324912" "00006" "Isolated (sporadic)" "12y9m" "weight 76.5kg (+2.9SD), length 154cm (0SD), OFC 54.8/+0.5SD); intellectual disability (IQ 47); motor developmental delay; 27m-walk; impaired speech development; muscular hypotonia; gait abnormalities; no strabism; no visual impairment; no abnormal respirations; myopia/hyperopia; no hearing impairment; no epicanthic folds; no thin upper lip; malocclusion of teeth; no frontal bossing; no open mouth appearance; no deep set eyes; no upslanting palpebral fissures; no congenital anomalies of the skull; no helix anomalies; no broad nasal bridge; no gastroesophageal reflux" "" "" "" "" "" "" "" "" "neurodevelopmental delay"
"0000243409" "05611" "00324913" "00006" "Isolated (sporadic)" "8y" "birth 38wweight 2098g (-2.6SD) length 40.5cm (-4.3SD) ; weight 20,4kg (-1.8SD), length 122cm (-1.2SD), OFC 48cm (-3.4SD); intellectual disability; motor developmental delay; 26m-walk; impaired speech development; impaired receptive language; no muscular hypotonia; no autistic features; MRI cerebral normal; no gait abnormalities; attention deficit hyperactivity disorder; no seizures; strabism; no visual impairment; no agressive behaviour; no abnormal respirations; myopia astigmatism; no hearing impairment; no epicanthic folds; thin upper lip; misaligned and yellow teeth, large two central incisors; no frontal bossing; open mouth appearance; no deep set eyes; no upslanting palpebral fissures; no congenital anomalies of the skull; no helix anomalies; no broad nasal bridge; no neonatal feeding difficulties; 5th finger bilateral camptodactyly and clinodactyly; gastroesophageal reflux; bilateral supernumerary nipple, synophrys" "" "" "" "" "" "" "" "" "neurodevelopmental delay"
"0000243410" "05611" "00324914" "00006" "Isolated (sporadic)" "8y" "birth 38w, weight 2268g (-2.1SD), length 43cm (-3.2SD) ; weight 22kg (-1.2SD), length 124cm (-0.9SD), OFC 48.5cm (-3.0SD); intellectual disability; motor developmental delay; 26m-walk; impaired speech development; impaired receptive language; no muscular hypotonia; no autistic features; MRI cerebral normal; no gait abnormalities; attention deficit hyperactivity disorder; no seizures; strabism; no visual impairment; no agressive behaviour; no abnormal respirations; no myopia/hyperopia; no hearing impairment; no epicanthic folds; thin upper lip; misaligned and yellow teeth, large two central incisors; no frontal bossing; open mouth appearance; no deep set eyes; no upslanting palpebral fissures; no congenital anomalies of the skull; no helix anomalies; no broad nasal bridge; no neonatal feeding difficulties; 5th finger bilateral camptodactyly and clinodactyly; no gastroesophageal reflux; constipation, synophrys" "" "" "" "" "" "" "" "" "neurodevelopmental delay"
"0000243411" "05611" "00324915" "00006" "Isolated (sporadic)" "15y4m" "birth 37w, weight 2750g (-1.0SD), length 46.5cm (-1.7SD),, OFC 33cm (-1.0SD); weight 41.7kg (-1.7SD), length 148.7cm (-1.96SD), OFC 52cm (-1.93SD); intellectual disability; motor developmental delay; 16m-walk; impaired speech development; impaired receptive language; no muscular hypotonia; autistic features; no gait abnormalities; attention deficit hyperactivity disorder; no seizures; no strabism; no visual impairment; agressive behaviour at puberty only; no abnormal respirations; no myopia/hyperopia; no hearing impairment; epicanthic folds; thin upper lip; crowded teeth, large incisors, multiple cavities; no frontal bossing; no open mouth appearance; deep set eyes; upslanting palpebral fissures; no congenital anomalies of the skull; overfolded helix, short; broad nasal bridge; no neonatal feeding difficulties; 5th finger bilateral clinodactyly, 4th finger clinodactyly right; no gastroesophageal reflux; significant anxiety, widow\'s peak, hypertelorism, skin picking, trichotillomania, laterally arched eyebrows" "" "" "" "" "" "" "" "" "neurodevelopmental delay"
"0000243412" "05611" "00324916" "00006" "Isolated (sporadic)" "17y" "birth 41w, weight 3084g (-1.5SD); weight 65kg (-0.3SD), length 165.6cm (-1.9SD), 13y9m-OFC 56.5 cm (+0.9SD); intellectual disability; motor developmental delay; 24-26m-walk; impaired speech development; impaired receptive language; muscular hypotonia; autistic features; posterior periventricular and deep white matter signal abnormality in both parietal lobes; gait abnormalities; attention deficit hyperactivity disorder; no seizures; strabism, Brown´s syndrome; visual impairment; agressive behaviour with puberty; 4y-obstructive sleep apnea, 12y-sleep study normal; myopia/hyperopia; no hearing impairment; no epicanthic folds; no thin upper lip; narrow maxillary arch, anterior crossbite with proclined maxillary incisors and mandibular jetting; no frontal bossing; open mouth appearance; no deep set eyes; no upslanting palpebral fissures; no congenital anomalies of the skull; no helix anomalies; no broad nasal bridge; neonatal feeding difficulties; left hip dysplasia; gastroesophageal reflux; patent foramen ovale, pulmonary valve insufficiency; difficulty swallowing, constipation, precocious puberty, anxiety, tricotillomania, high arched palate, narcolepsy/cataplexy" "" "" "" "" "" "" "" "" "neurodevelopmental delay"
"0000243413" "05611" "00324917" "00006" "Isolated (sporadic)" "5y6m" "birth 41w, weight 3670g (-0.2SD), length 51cm (-0.9SD), OFC 31.5cm (-3.4SD); weight 18kg (-0.5SD), length 112cm (+0.1SD), OFC 45cm (-5.0SD); intellectual disability; motor developmental delay; 22m-walk; impaired speech development; impaired receptive language; no muscular hypotonia; autistic features; MRI cerebral normal; no gait abnormalities; attention deficit hyperactivity disorder; no seizures; no strabism; no visual impairment; no agressive behaviour; no abnormal respirations; no myopia/hyperopia; no hearing impairment; epicanthic folds; no thin upper lip; malocclusion of teeth; no frontal bossing; open mouth appearance; no deep set eyes; no upslanting palpebral fissures; no congenital anomalies of the skull; no helix anomalies; no broad nasal bridge; no neonatal feeding difficulties; no skeletal anomalies; gastroesophageal reflux; no heart anomalies" "" "" "" "" "" "" "" "" "neurodevelopmental delay"
"0000307199" "05611" "00415405" "00006" "Isolated (sporadic)" "26y" "40w-birth spontaneaous vaginal, length 53cm (0.22), weight 4250g (1.42), OFC 38cm; gestational hypertension; delivery complicated because of large head circumference/ dolicocephaly. Icterus neonatorum; height 179.5cm (0.45), weight 82.4Kg (1), OFC 60cm (1.96), BMI 25.6 (1.18); mild intellectual disability (IQ~65); 16m15d-walk; independent self-care; normal speech; started at regular primary school, switched to special education, now graphic designer at special workplace for individuals with disabilities; prominent autistic features, 23y-diagnosis autism spectrum disorder; anxiety disorder, otherwise happy, friendly, social; no sleep disturbances; no seizures; both hypertonia and hypotonia reported in infancy and childhood; balance problems, clumsiness, often headache (migraine-like); recurrent otitis externa, no hearing loss; mild hypermetropia, wears glasses; no pulmonary abnormalities; no cardiovascular abnormalities; constipation in history. had appendicitis, no other abnormalities; no genitourinary abnormalities; craniosynostosis, 6m-corrective surgery, severe artrosis in knee ( always wears brace) and in wrist, jaw joint problems; Congenital bilaterial inguinal hernia" "" "" "" "" "" "" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 24
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" ""
"0000326104" "00324897" "1" "00006" "00006" "2020-12-24 16:46:49" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000326105" "00324898" "1" "00006" "00006" "2020-12-24 16:46:49" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000326106" "00324899" "1" "00006" "00006" "2020-12-24 16:46:49" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000326107" "00324900" "1" "00006" "00006" "2020-12-24 16:46:49" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000326108" "00324901" "1" "00006" "00006" "2020-12-24 16:46:49" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000326109" "00324902" "1" "00006" "00006" "2020-12-24 16:46:49" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000326110" "00324903" "1" "00006" "00006" "2020-12-24 16:46:49" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000326111" "00324904" "1" "00006" "00006" "2020-12-24 16:46:49" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000326112" "00324905" "1" "00006" "00006" "2020-12-24 16:46:49" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000326113" "00324906" "1" "00006" "00006" "2020-12-24 16:46:49" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000326114" "00324907" "1" "00006" "00006" "2020-12-24 16:46:49" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000326115" "00324908" "1" "00006" "00006" "2020-12-24 16:46:49" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000326116" "00324909" "1" "00006" "00006" "2020-12-24 16:46:49" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000326117" "00324910" "1" "00006" "00006" "2020-12-24 16:46:49" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000326118" "00324911" "1" "00006" "00006" "2020-12-24 16:46:49" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000326119" "00324912" "1" "00006" "00006" "2020-12-24 16:46:49" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000326120" "00324913" "1" "00006" "00006" "2020-12-24 16:46:49" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000326121" "00324914" "1" "00006" "00006" "2020-12-24 16:46:49" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000326122" "00324915" "1" "00006" "00006" "2020-12-24 16:46:49" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000326123" "00324916" "1" "00006" "00006" "2020-12-24 16:46:49" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000326124" "00324917" "1" "00006" "00006" "2020-12-24 16:46:49" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000416686" "00415405" "1" "00006" "00006" "2022-08-13 16:30:49" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES"
"0000443069" "00441583" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 21
"{{screeningid}}" "{{geneid}}"
"0000326104" "EIF2C2"
"0000326105" "EIF2C2"
"0000326106" "EIF2C2"
"0000326107" "EIF2C2"
"0000326108" "EIF2C2"
"0000326109" "EIF2C2"
"0000326110" "EIF2C2"
"0000326111" "EIF2C2"
"0000326112" "EIF2C2"
"0000326113" "EIF2C2"
"0000326114" "EIF2C2"
"0000326115" "EIF2C2"
"0000326116" "EIF2C2"
"0000326117" "EIF2C2"
"0000326118" "EIF2C2"
"0000326119" "EIF2C2"
"0000326120" "EIF2C2"
"0000326121" "EIF2C2"
"0000326122" "EIF2C2"
"0000326123" "EIF2C2"
"0000326124" "EIF2C2"
## 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 = 53
"{{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}}"
"0000004677" "3" "50" "8" "141587915" "141587915" "subst" "0" "00037" "EIF2C2_000001" "g.141587915T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.140577816T>C" "" "VUS" ""
"0000332333" "0" "50" "8" "141572738" "141572738" "subst" "6.94246E-5" "01804" "EIF2C2_000011" "g.141572738G>A" "" "" "" "AGO2(NM_001164623.1):c.337-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140562639G>A" "" "VUS" ""
"0000345840" "0" "70" "8" "141570527" "141570527" "subst" "0" "02327" "EIF2C2_000010" "g.141570527C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140560428C>A" "" "likely pathogenic" ""
"0000346184" "0" "70" "8" "141554341" "141554341" "subst" "0" "02327" "EIF2C2_000003" "g.141554341C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140544242C>T" "" "likely pathogenic" ""
"0000346245" "0" "50" "8" "141545641" "141545641" "subst" "0" "02327" "EIF2C2_000002" "g.141545641C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140535542C>G" "" "VUS" ""
"0000346401" "0" "50" "8" "141570519" "141570519" "subst" "0" "02327" "EIF2C2_000008" "g.141570519A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140560420A>T" "" "VUS" ""
"0000347823" "0" "50" "8" "141566321" "141566321" "subst" "0" "02327" "EIF2C2_000005" "g.141566321A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140556222A>G" "" "VUS" ""
"0000533865" "0" "30" "8" "141565991" "141565991" "subst" "0.00187615" "01804" "EIF2C2_000004" "g.141565991G>A" "" "" "" "AGO2(NM_001164623.1):c.1269+4C>T (p.?), AGO2(NM_012154.5):c.1269+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140555892G>A" "" "likely benign" ""
"0000533866" "0" "30" "8" "141566342" "141566342" "subst" "0" "02327" "EIF2C2_000006" "g.141566342G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140556243G>A" "" "likely benign" ""
"0000533867" "0" "90" "8" "141570526" "141570526" "subst" "0" "02325" "EIF2C2_000009" "g.141570526C>A" "" "" "" "AGO2(NM_012154.5):c.602G>T (p.G201V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140560427C>A" "" "pathogenic" ""
"0000611467" "0" "30" "8" "141554406" "141554406" "subst" "0.0014656" "02325" "EIF2C2_000012" "g.141554406C>T" "" "" "" "AGO2(NM_012154.5):c.1749-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140544307C>T" "" "likely benign" ""
"0000611468" "0" "30" "8" "141583027" "141583027" "subst" "4.21234E-6" "01804" "EIF2C2_000014" "g.141583027T>C" "" "" "" "AGO2(NM_001164623.1):c.220A>G (p.(Ile74Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140572928T>C" "" "likely benign" ""
"0000622000" "0" "30" "8" "141559301" "141559301" "subst" "4.0714E-6" "01943" "EIF2C2_000013" "g.141559301G>A" "" "" "" "AGO2(NM_012154.5):c.1500C>T (p.S500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140549202G>A" "" "likely benign" ""
"0000709379" "0" "90" "8" "141570586" "141570588" "del" "0" "00006" "EIF2C2_000020" "g.141570586_141570588del" "" "{PMID:Lessel 2020:33199684}" "" "" "" "De novo" "" "" "0" "" "" "g.140560487_140560489del" "" "pathogenic (dominant)" ""
"0000709380" "0" "90" "8" "141570553" "141570553" "subst" "0" "00006" "EIF2C2_000019" "g.141570553A>G" "" "{PMID:Lessel 2020:33199684}" "" "575A>G" "" "De novo" "" "" "0" "" "" "g.140560454A>G" "" "pathogenic (dominant)" ""
"0000709381" "0" "90" "8" "141570553" "141570553" "subst" "0" "00006" "EIF2C2_000019" "g.141570553A>G" "" "{PMID:Lessel 2020:33199684}" "" "575A>G" "" "De novo" "" "" "0" "" "" "g.140560454A>G" "" "pathogenic (dominant)" ""
"0000709382" "0" "90" "8" "141570527" "141570527" "subst" "0" "00006" "EIF2C2_000010" "g.141570527C>A" "" "{PMID:Lessel 2020:33199684}" "" "" "" "De novo" "" "" "0" "" "" "g.140560428C>A" "" "pathogenic (dominant)" ""
"0000709383" "0" "90" "8" "141570526" "141570526" "subst" "0" "00006" "EIF2C2_000009" "g.141570526C>A" "" "{PMID:Lessel 2020:33199684}" "" "" "" "De novo" "" "" "0" "" "" "g.140560427C>A" "" "pathogenic (dominant)" ""
"0000709384" "0" "90" "8" "141570526" "141570526" "subst" "0" "00006" "EIF2C2_000009" "g.141570526C>A" "" "{PMID:Lessel 2020:33199684}" "" "" "" "De novo" "" "" "0" "" "" "g.140560427C>A" "" "pathogenic (dominant)" ""
"0000709385" "0" "90" "8" "141570519" "141570519" "subst" "0" "00006" "EIF2C2_000008" "g.141570519A>T" "" "{PMID:Lessel 2020:33199684}" "" "" "" "De novo" "" "" "0" "" "" "g.140560420A>T" "" "pathogenic (dominant)" ""
"0000709386" "0" "90" "8" "141566342" "141566342" "subst" "0" "00006" "EIF2C2_000006" "g.141566342G>A" "" "{PMID:Lessel 2020:33199684}" "" "" "" "De novo" "" "" "0" "" "" "g.140556243G>A" "" "pathogenic (dominant)" ""
"0000709387" "21" "90" "8" "141566342" "141566342" "subst" "0" "00006" "EIF2C2_000006" "g.141566342G>A" "" "{PMID:Lessel 2020:33199684}" "" "" "" "Germline" "" "" "0" "" "" "g.140556243G>A" "" "pathogenic (dominant)" ""
"0000709388" "0" "90" "8" "141566342" "141566342" "subst" "0" "00006" "EIF2C2_000006" "g.141566342G>A" "" "{PMID:Lessel 2020:33199684}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.140556243G>A" "" "pathogenic (dominant)" ""
"0000709389" "0" "90" "8" "141566342" "141566342" "subst" "0" "00006" "EIF2C2_000006" "g.141566342G>A" "" "{PMID:Lessel 2020:33199684}" "" "" "" "De novo" "" "" "0" "" "" "g.140556243G>A" "" "pathogenic (dominant)" ""
"0000709390" "0" "90" "8" "141566321" "141566321" "subst" "0" "00006" "EIF2C2_000005" "g.141566321A>G" "" "{PMID:Lessel 2020:33199684}" "" "" "" "De novo" "" "" "0" "" "" "g.140556222A>G" "" "pathogenic (dominant)" ""
"0000709391" "0" "90" "8" "141566321" "141566321" "subst" "0" "00006" "EIF2C2_000005" "g.141566321A>G" "" "{PMID:Lessel 2020:33199684}" "" "" "" "De novo" "" "" "0" "" "" "g.140556222A>G" "" "pathogenic (dominant)" ""
"0000709392" "0" "90" "8" "141566313" "141566313" "subst" "0" "00006" "EIF2C2_000018" "g.141566313C>G" "" "{PMID:Lessel 2020:33199684}" "" "" "" "De novo" "" "" "0" "" "" "g.140556214C>G" "" "pathogenic (dominant)" ""
"0000709393" "0" "90" "8" "141557598" "141557598" "subst" "0" "00006" "EIF2C2_000017" "g.141557598C>T" "" "{PMID:Lessel 2020:33199684}" "" "" "" "De novo" "" "" "0" "" "" "g.140547499C>T" "" "pathogenic (dominant)" ""
"0000709394" "0" "90" "8" "141545641" "141545641" "subst" "0" "00006" "EIF2C2_000002" "g.141545641C>G" "" "{PMID:Lessel 2020:33199684}" "" "" "" "De novo" "" "" "0" "" "" "g.140535542C>G" "" "pathogenic (dominant)" ""
"0000709395" "0" "90" "8" "141545586" "141545586" "subst" "0" "00006" "EIF2C2_000016" "g.141545586C>T" "" "{PMID:Lessel 2020:33199684}" "" "" "" "De novo" "" "" "0" "" "" "g.140535487C>T" "" "pathogenic (dominant)" ""
"0000709396" "0" "90" "8" "141545586" "141545586" "subst" "0" "00006" "EIF2C2_000016" "g.141545586C>T" "" "{PMID:Lessel 2020:33199684}" "" "" "" "De novo" "" "" "0" "" "" "g.140535487C>T" "" "pathogenic (dominant)" ""
"0000709397" "0" "90" "8" "141545586" "141545586" "subst" "0" "00006" "EIF2C2_000016" "g.141545586C>T" "" "{PMID:Lessel 2020:33199684}" "" "" "" "De novo" "" "" "0" "" "" "g.140535487C>T" "" "pathogenic (dominant)" ""
"0000709398" "0" "90" "8" "141542706" "141542706" "subst" "0" "00006" "EIF2C2_000015" "g.141542706G>C" "" "{PMID:Lessel 2020:33199684}" "" "" "" "De novo" "" "" "0" "" "" "g.140532607G>C" "" "pathogenic (dominant)" ""
"0000709399" "0" "90" "8" "141582269" "141817600" "del" "0" "00006" "EIF2C2_000021" "g.(141570000_141582269)_(141817600_141828375)del" "" "{PMID:Lessel 2020:33199684}" "" "g.(141582269_141817600)del" "235kb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000803462" "0" "30" "8" "141542668" "141542668" "subst" "4.06128E-6" "02325" "EIF2C2_000022" "g.141542668C>T" "" "" "" "AGO2(NM_012154.5):c.2318G>A (p.R773H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000803463" "0" "30" "8" "141554302" "141554302" "subst" "0" "01943" "EIF2C2_000023" "g.141554302T>C" "" "" "" "AGO2(NM_012154.5):c.1839+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000803464" "0" "50" "8" "141570502" "141570502" "subst" "8.12367E-6" "02329" "EIF2C2_000024" "g.141570502G>C" "" "" "" "AGO2(NM_012154.5):c.626C>G (p.S209C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000876106" "0" "70" "8" "141554341" "141554341" "subst" "0" "00006" "EIF2C2_000003" "g.141554341C>T" "" "{PMID:Zanoni 2021:33941880}" "" "" "" "De novo" "" "" "0" "" "" "g.140544242C>T" "" "VUS" ""
"0000888174" "0" "30" "8" "141565991" "141565991" "subst" "0.00187615" "02325" "EIF2C2_000004" "g.141565991G>A" "" "" "" "AGO2(NM_001164623.1):c.1269+4C>T (p.?), AGO2(NM_012154.5):c.1269+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000888175" "0" "90" "8" "141570586" "141570588" "del" "0" "02327" "EIF2C2_000020" "g.141570586_141570588del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000924824" "0" "50" "8" "141557718" "141557718" "subst" "0" "02327" "EIF2C2_000025" "g.141557718T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000929413" "0" "70" "8" "141542611" "141542611" "subst" "0" "02329" "EIF2C2_000026" "g.141542611C>T" "" "" "" "AGO2(NM_012154.5):c.2375G>A (p.R792H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000944428" "0" "90" "8" "141595356" "141595356" "subst" "0" "00006" "EIF2C2_000027" "g.141595356G>A" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline" "" "" "0" "" "" "g.140585257G>A" "" "VUS" ""
"0000978054" "0" "50" "8" "141542698" "141542698" "subst" "0" "02327" "EIF2C2_000029" "g.141542698G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000978055" "0" "30" "8" "141568227" "141568227" "subst" "0" "01804" "EIF2C2_000030" "g.141568227C>T" "" "" "" "AGO2(NM_012154.5):c.878+357G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000996951" "0" "50" "8" "141551305" "141551305" "subst" "0" "01804" "EIF2C2_000031" "g.141551305G>C" "" "" "" "AGO2(NM_012154.3):c.1992C>G (p.(Ile664Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000996952" "0" "50" "8" "141595383" "141595383" "subst" "0" "01804" "EIF2C2_000032" "g.141595383G>T" "" "" "" "AGO2(NM_012154.3):c.50C>A (p.(Pro17His)), AGO2(NM_012154.5):c.50C>A (p.P17H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001014408" "0" "50" "8" "141549529" "141549529" "subst" "8.14372E-6" "02325" "EIF2C2_000033" "g.141549529T>G" "" "" "" "AGO2(NM_012154.5):c.2059A>C (p.I687L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001025486" "0" "50" "8" "141568603" "141568603" "subst" "0" "02327" "EIF2C2_000034" "g.141568603G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001036757" "0" "50" "8" "141567339" "141567339" "subst" "0" "01804" "EIF2C2_000035" "g.141567339A>G" "" "" "" "AGO2(NM_012154.5):c.879-4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001036758" "0" "50" "8" "141568657" "141568657" "subst" "0" "02329" "EIF2C2_000036" "g.141568657T>C" "" "" "" "AGO2(NM_012154.5):c.805A>G (p.I269V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001046142" "0" "50" "8" "141595383" "141595383" "subst" "0" "02325" "EIF2C2_000032" "g.141595383G>T" "" "" "" "AGO2(NM_012154.3):c.50C>A (p.(Pro17His)), AGO2(NM_012154.5):c.50C>A (p.P17H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001053122" "0" "30" "8" "141595395" "141595395" "subst" "1.22036E-5" "01804" "EIF2C2_000037" "g.141595395G>A" "" "" "" "AGO2(NM_012154.5):c.38C>T (p.(Ala13Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
## 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 EIF2C2
## Count = 83
"{{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}}"
"0000004677" "00025967" "50" "216" "-4884" "216" "-4884" "c.216-4884A>G" "r.(=)" "p.(=)" ""
"0000004677" "00000939" "50" "216" "-4884" "216" "-4884" "c.216-4884A>G" "r.(=)" "p.(=)" ""
"0000332333" "00025967" "50" "337" "-5" "337" "-5" "c.337-5C>T" "r.spl?" "p.?" ""
"0000332333" "00000939" "50" "337" "-5" "337" "-5" "c.337-5C>T" "r.spl?" "p.?" ""
"0000345840" "00025967" "70" "601" "0" "601" "0" "c.601G>T" "r.(?)" "p.(Gly201Cys)" ""
"0000345840" "00000939" "70" "601" "0" "601" "0" "c.601G>T" "r.(?)" "p.(Gly201Cys)" ""
"0000346184" "00025967" "70" "1810" "0" "1810" "0" "c.1810G>A" "r.(?)" "p.(Gly604Arg)" ""
"0000346184" "00000939" "70" "1810" "0" "1810" "0" "c.1810G>A" "r.(?)" "p.(Gly604Arg)" ""
"0000346245" "00025967" "50" "2197" "0" "2197" "0" "c.2197G>C" "r.(?)" "p.(Gly733Arg)" ""
"0000346245" "00000939" "50" "2170" "-2927" "2170" "-2927" "c.2170-2927G>C" "r.(=)" "p.(=)" ""
"0000346401" "00025967" "50" "609" "0" "609" "0" "c.609T>A" "r.(?)" "p.(His203Gln)" ""
"0000346401" "00000939" "50" "609" "0" "609" "0" "c.609T>A" "r.(?)" "p.(His203Gln)" ""
"0000347823" "00025967" "50" "1091" "0" "1091" "0" "c.1091T>C" "r.(?)" "p.(Met364Thr)" ""
"0000347823" "00000939" "50" "1091" "0" "1091" "0" "c.1091T>C" "r.(?)" "p.(Met364Thr)" ""
"0000533865" "00025967" "30" "1269" "4" "1269" "4" "c.1269+4C>T" "r.spl?" "p.?" ""
"0000533865" "00000939" "30" "1269" "4" "1269" "4" "c.1269+4C>T" "r.spl?" "p.?" ""
"0000533866" "00025967" "30" "1070" "0" "1070" "0" "c.1070C>T" "r.(?)" "p.(Thr357Met)" ""
"0000533866" "00000939" "30" "1070" "0" "1070" "0" "c.1070C>T" "r.(?)" "p.(Thr357Met)" ""
"0000533867" "00025967" "90" "602" "0" "602" "0" "c.602G>T" "r.(?)" "p.(Gly201Val)" ""
"0000533867" "00000939" "90" "602" "0" "602" "0" "c.602G>T" "r.(?)" "p.(Gly201Val)" ""
"0000611467" "00025967" "30" "1749" "-4" "1749" "-4" "c.1749-4G>A" "r.spl?" "p.?" ""
"0000611467" "00000939" "30" "1749" "-4" "1749" "-4" "c.1749-4G>A" "r.spl?" "p.?" ""
"0000611468" "00025967" "30" "220" "0" "220" "0" "c.220A>G" "r.(?)" "p.(Ile74Val)" ""
"0000611468" "00000939" "30" "220" "0" "220" "0" "c.220A>G" "r.(?)" "p.(Ile74Val)" ""
"0000622000" "00025967" "30" "1500" "0" "1500" "0" "c.1500C>T" "r.(?)" "p.(Ser500=)" ""
"0000622000" "00000939" "30" "1500" "0" "1500" "0" "c.1500C>T" "r.(?)" "p.(Ser500=)" ""
"0000709379" "00000939" "90" "544" "0" "546" "0" "c.544_546del" "r.(?)" "p.(Phe182del)" ""
"0000709380" "00000939" "90" "575" "0" "575" "0" "c.575T>C" "r.(?)" "p.(Leu192Pro)" ""
"0000709381" "00000939" "90" "575" "0" "575" "0" "c.575T>C" "r.(?)" "p.(Leu192Pro)" ""
"0000709382" "00000939" "90" "601" "0" "601" "0" "c.601G>T" "r.(?)" "p.(Gly201Cys)" ""
"0000709383" "00000939" "90" "602" "0" "602" "0" "c.602G>T" "r.(?)" "p.(Gly201Val)" ""
"0000709384" "00000939" "90" "602" "0" "602" "0" "c.602G>T" "r.(?)" "p.(Gly201Val)" ""
"0000709385" "00000939" "90" "609" "0" "609" "0" "c.609T>A" "r.(?)" "p.(His203Gln)" ""
"0000709386" "00000939" "90" "1070" "0" "1070" "0" "c.1070C>T" "r.(?)" "p.(Thr357Met)" ""
"0000709387" "00000939" "90" "1070" "0" "1070" "0" "c.1070C>T" "r.(?)" "p.(Thr357Met)" ""
"0000709388" "00000939" "90" "1070" "0" "1070" "0" "c.1070C>T" "r.(?)" "p.(Thr357Met)" ""
"0000709389" "00000939" "90" "1070" "0" "1070" "0" "c.1070C>T" "r.(?)" "p.(Thr357Met)" ""
"0000709390" "00000939" "90" "1091" "0" "1091" "0" "c.1091T>C" "r.(?)" "p.(Met364Thr)" ""
"0000709391" "00000939" "90" "1091" "0" "1091" "0" "c.1091T>C" "r.(?)" "p.(Met364Thr)" ""
"0000709392" "00000939" "90" "1099" "0" "1099" "0" "c.1099G>C" "r.(?)" "p.(Ala367Pro)" ""
"0000709393" "00000939" "90" "1717" "0" "1717" "0" "c.1717G>A" "r.(?)" "p.(Gly573Ser)" ""
"0000709394" "00000939" "90" "2197" "0" "2197" "0" "c.2197G>C" "r.(?)" "p.(Gly733Arg)" ""
"0000709395" "00000939" "90" "2252" "0" "2252" "0" "c.2252G>A" "r.(?)" "p.(Cys751Tyr)" ""
"0000709396" "00000939" "90" "2252" "0" "2252" "0" "c.2252G>A" "r.(?)" "p.(Cys751Tyr)" ""
"0000709397" "00000939" "90" "2252" "0" "2252" "0" "c.2252G>A" "r.(?)" "p.(Cys751Tyr)" ""
"0000709398" "00000939" "90" "2280" "0" "2280" "0" "c.2280C>G" "r.(?)" "p.(Ser760Arg)" ""
"0000709399" "00000939" "90" "0" "0" "0" "0" "c.-41_(336+1_656-1){0}" "r.0" "p.0" ""
"0000803462" "00025967" "30" "2318" "0" "2318" "0" "c.2318G>A" "r.(?)" "p.(Arg773His)" ""
"0000803462" "00000939" "30" "2216" "0" "2216" "0" "c.2216G>A" "r.(?)" "p.(Arg739His)" ""
"0000803463" "00025967" "30" "1839" "10" "1839" "10" "c.1839+10A>G" "r.(=)" "p.(=)" ""
"0000803463" "00000939" "30" "1839" "10" "1839" "10" "c.1839+10A>G" "r.(=)" "p.(=)" ""
"0000803464" "00025967" "50" "626" "0" "626" "0" "c.626C>G" "r.(?)" "p.(Ser209Cys)" ""
"0000803464" "00000939" "50" "626" "0" "626" "0" "c.626C>G" "r.(?)" "p.(Ser209Cys)" ""
"0000876106" "00000939" "70" "1810" "0" "1810" "0" "c.1810G>A" "r.(?)" "p.(Gly604Arg)" ""
"0000888174" "00025967" "30" "1269" "4" "1269" "4" "c.1269+4C>T" "r.spl?" "p.?" ""
"0000888174" "00000939" "30" "1269" "4" "1269" "4" "c.1269+4C>T" "r.spl?" "p.?" ""
"0000888175" "00025967" "90" "544" "0" "546" "0" "c.544_546del" "r.(?)" "p.(Phe182del)" ""
"0000888175" "00000939" "90" "544" "0" "546" "0" "c.544_546del" "r.(?)" "p.(Phe182del)" ""
"0000924824" "00025967" "50" "1597" "0" "1597" "0" "c.1597A>G" "r.(?)" "p.(Lys533Glu)" ""
"0000924824" "00000939" "50" "1597" "0" "1597" "0" "c.1597A>G" "r.(?)" "p.(Lys533Glu)" ""
"0000929413" "00025967" "70" "2375" "0" "2375" "0" "c.2375G>A" "r.(?)" "p.(Arg792His)" ""
"0000929413" "00000939" "70" "2273" "0" "2273" "0" "c.2273G>A" "r.(?)" "p.(Arg758His)" ""
"0000944428" "00000939" "90" "77" "0" "77" "0" "c.77C>T" "r.(?)" "p.(Pro26Leu)" ""
"0000978054" "00025967" "50" "2288" "0" "2288" "0" "c.2288C>T" "r.(?)" "p.(Ser763Leu)" ""
"0000978054" "00000939" "50" "2186" "0" "2186" "0" "c.2186C>T" "r.(?)" "p.(Ser729Leu)" ""
"0000978055" "00025967" "30" "878" "357" "878" "357" "c.878+357G>A" "r.(=)" "p.(=)" ""
"0000978055" "00000939" "30" "878" "357" "878" "357" "c.878+357G>A" "r.(=)" "p.(=)" ""
"0000996951" "00025967" "50" "1992" "0" "1992" "0" "c.1992C>G" "r.(?)" "p.(Ile664Met)" ""
"0000996951" "00000939" "50" "1992" "0" "1992" "0" "c.1992C>G" "r.(?)" "p.(Ile664Met)" ""
"0000996952" "00025967" "50" "50" "0" "50" "0" "c.50C>A" "r.(?)" "p.(Pro17His)" ""
"0000996952" "00000939" "50" "50" "0" "50" "0" "c.50C>A" "r.(?)" "p.(Pro17His)" ""
"0001014408" "00025967" "50" "2059" "0" "2059" "0" "c.2059A>C" "r.(?)" "p.(Ile687Leu)" ""
"0001014408" "00000939" "50" "2059" "0" "2059" "0" "c.2059A>C" "r.(?)" "p.(Ile687Leu)" ""
"0001025486" "00025967" "50" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Arg287Trp)" ""
"0001025486" "00000939" "50" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Arg287Trp)" ""
"0001036757" "00025967" "50" "879" "-4" "879" "-4" "c.879-4T>C" "r.spl?" "p.?" ""
"0001036757" "00000939" "50" "879" "-4" "879" "-4" "c.879-4T>C" "r.spl?" "p.?" ""
"0001036758" "00025967" "50" "805" "0" "805" "0" "c.805A>G" "r.(?)" "p.(Ile269Val)" ""
"0001036758" "00000939" "50" "805" "0" "805" "0" "c.805A>G" "r.(?)" "p.(Ile269Val)" ""
"0001046142" "00025967" "50" "50" "0" "50" "0" "c.50C>A" "r.(?)" "p.(Pro17His)" ""
"0001046142" "00000939" "50" "50" "0" "50" "0" "c.50C>A" "r.(?)" "p.(Pro17His)" ""
"0001053122" "00025967" "30" "38" "0" "38" "0" "c.38C>T" "r.(?)" "p.(Ala13Val)" ""
"0001053122" "00000939" "30" "38" "0" "38" "0" "c.38C>T" "r.(?)" "p.(Ala13Val)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 24
"{{screeningid}}" "{{variantid}}"
"0000000209" "0000004677"
"0000326104" "0000709379"
"0000326105" "0000709380"
"0000326106" "0000709381"
"0000326107" "0000709382"
"0000326108" "0000709383"
"0000326109" "0000709384"
"0000326110" "0000709385"
"0000326111" "0000709386"
"0000326112" "0000709387"
"0000326113" "0000709388"
"0000326114" "0000709389"
"0000326115" "0000709390"
"0000326116" "0000709391"
"0000326117" "0000709392"
"0000326118" "0000709393"
"0000326119" "0000709394"
"0000326120" "0000709395"
"0000326121" "0000709396"
"0000326122" "0000709397"
"0000326123" "0000709398"
"0000326124" "0000709399"
"0000416686" "0000876106"
"0000443069" "0000944428"