### LOVD-version 3000-28d ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = OPHN1) # 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}}" "OPHN1" "oligophrenin 1" "X" "q12" "unknown" "NG_008960.1" "UD_132118820145" "" "https://www.LOVD.nl/OPHN1" "" "1" "8148" "4983" "300127" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/OPHN1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2017-12-01 10:36:57" "00000" "2023-01-11 15:44:22" ## 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}}" "00000696" "OPHN1" "oligophrenin 1" "001" "NM_002547.2" "" "NP_002538.1" "" "" "" "-294" "7237" "2409" "67262186" "67653299" "00000" "2012-09-13 12:47:21" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00614" "MRD20" "mental retardation, autosomal dominant, type 20 (MRD20)" "AD" "613443" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-06-06 18:59:00" "00825" "MRXSBL;MRX60" "intellectual developmental disorder, X-linked syndromic, Billuart type" "XLR" "300486" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-11-16 16:06:59" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02159" "-" "epilepsy, X-linked, with variable learning disabilities and behavior disorders" "XLD;XLR" "300491" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "OPHN1" "00139" "OPHN1" "00825" ## Individuals ## Do not remove or alter this header ## ## Count = 37 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00016958" "" "" "" "12" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377126-Pat?" "00016959" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377127-Pat?" "00016960" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377128-Pat?" "00016961" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377129-Pat?" "00017018" "" "" "" "2" "" "00714" "{PMID:Tzschach 2015:25649377}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier mother" "M" "" "? (unknown)" "" "0" "" "" "?" "Fam11" "00052110" "" "" "" "1" "" "01418" "" "" "" "" "" "" "0" "" "" "" "" "00052112" "" "" "" "1" "" "01418" "" "" "" "" "" "" "0" "" "" "" "" "00052113" "" "" "" "1" "" "01418" "" "" "" "" "" "" "0" "" "" "" "" "00052130" "" "" "" "4" "" "00006" "{PMID:Billuart 1998:9582072}, {DOI:Billuart 1998:10.1038/31940}" "5-generation family, 4 affected males, 7 unaffected heterozygous carrier females" "M" "no" "France" "" "0" "" "" "" "" "00052131" "" "" "" "1" "" "00006" "{PMID:Billuart 1998:9582072}, {DOI:Billuart 1998:10.1038/31940}" "female patient" "F" "" "France" "" "0" "" "" "" "09582072-Pat" "00052132" "" "" "" "6" "" "00006" "{PMID:Philip 2003:12807966}, {DOI:Philip 2003:10.1136/jmg.40.6.441}" "3-generation family, 4 affected males, 2 mildly affected heterozygous carrier females" "M" "no" "France" "" "0" "" "" "" "" "00052133" "" "" "" "1" "" "00006" "{PMID:Philip 2003:12807966}, {DOI:Philip 2003:10.1136/jmg.40.6.441}" "2-generation family, 1 affected" "M" "no" "France" "" "0" "" "" "" "" "00132973" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00144613" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00180163" "" "" "" "1" "" "00006" "{PMID:Tumienė 2018:29286531}" "" "" "" "(Slovenia)" "" "0" "" "" "" "29286531-Pat15" "00183113" "" "" "" "2" "" "00006" "{PMID:Hu 2016:25644381}" "family, 2 affected, 6 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "25644381-FamT10" "00183114" "" "" "" "1" "" "00006" "{PMID:Hu 2016:25644381}" "family, 1 affected, 2 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "25644381-FamMRX26/D43" "00183159" "" "" "" "2" "" "00006" "{PMID:Hu 2016:25644381}" "family, 2 affected, 2 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "25644381-FamT144" "00183160" "" "" "" "1" "" "00006" "{PMID:Hu 2016:25644381}" "family, 1 affected, 3 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "25644381-FamAU49" "00183168" "" "" "" "4" "" "00006" "{PMID:Hu 2016:25644381}" "family, 4 affected, 3 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "25644381-FamAU14" "00183170" "" "" "" "1" "" "00006" "{PMID:Hu 2016:25644381}" "family, 1 affected, 1 unaffected heterozygous carrier female" "M" "" "" "" "0" "" "" "" "25644381-FamAU90" "00295083" "" "" "" "49" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305316" "" "" "" "33" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307050" "" "" "" "2" "" "03746" "{PMID:Nuovo 2021:33638601}" "3-generation family, 2 affected males, 3 unaffected heterozygous carrier females" "M" "yes" "" "" "0" "" "" "" "FamB" "00307068" "" "" "" "1" "" "03746" "{PMID:Nuovo 2021:33638601}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "Italy" "" "0" "" "" "" "FamB" "00307757" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411200" "00307758" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411352" "00361599" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "simplex case" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "10DG0165" "00374799" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "R-0518" "00380821" "" "" "" "1" "" "00000" "{PMID:Nair 2018:30293248}" "" "?" "" "Lebanon" "" "0" "" "" "" "?" "00392294" "" "" "" "1" "" "04204" "" "" "M" "no" "(United States)" "0" "0" "" "" "white" "CMS2401" "00392513" "" "" "" "1" "" "04204" "" "" "M" "no" "(United States)" "0" "0" "" "" "white" "" "00410560" "" "" "" "1" "" "00006" "{PMID:Schuermans 2022:35606766}" "analysis 329 adult patients suffering from undiagnosed rare disease" "M" "" "Belgium" "" "0" "" "" "" "Pat22" "00427975" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A024" "00428016" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A157" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 37 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00016958" "00187" "00016959" "00187" "00016960" "00187" "00016961" "00187" "00017018" "00187" "00052110" "00825" "00052112" "00825" "00052113" "00825" "00052130" "00825" "00052131" "00187" "00052132" "00614" "00052133" "00825" "00132973" "00198" "00144613" "00198" "00180163" "00198" "00183113" "00187" "00183114" "00187" "00183159" "00187" "00183160" "00187" "00183168" "00187" "00183170" "00187" "00295083" "00198" "00305316" "00198" "00307050" "00825" "00307068" "00825" "00307757" "00139" "00307758" "00139" "00361599" "00139" "00374799" "00198" "00380821" "00825" "00392294" "02159" "00392513" "00198" "00410560" "00198" "00427975" "00198" "00428016" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 00614, 00825, 01157, 02159 ## Count = 32 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000015317" "00187" "00016958" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015318" "00187" "00016959" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015319" "00187" "00016960" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015320" "00187" "00016961" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015377" "00187" "00017018" "00714" "Familial, X-linked recessive" "" "brothers mild-moderate intellectual disability, cryptorchidism, strabismus, slightly ataxic gait, borderline obesity, normal height, normal OFC, MRI brain cerebellar hypoplasia, slight atrophy frontal cortex; younger brother multiple cysts left kidney" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000038749" "03672" "00052113" "01418" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038750" "03672" "00052112" "01418" "Unknown" "" "psychomotor retardation, epilepsy, craniofacial dysmorphism" "" "" "" "" "" "" "" "" "" "" "" "" "0000038751" "00825" "00052110" "01418" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038752" "00825" "00052130" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038753" "00187" "00052131" "00006" "Isolated (sporadic)" "" "mild mental retardation" "" "" "" "" "" "" "" "" "" "" "" "" "0000038754" "00614" "00052132" "00006" "Familial, X-linked recessive" "18y" "see paper (other patients); born at term, uneventful pregnancy, birth weight 3450g (50th), birth length 51cm (50th), OFC 36.5cm (90th); 9m-febrile seizures, generalised hypotonia, developmental delay; 11m-sit; 18y-weight 105kg, height 1.82m, OFC 60cm (>98th), facial appearance slightly dysmorphic, deeply set eyes, prominent chin; neurological examination normal, significantly mentally retarded, no autonomy (IQ 46), no reading; MRI-large ventricles without hydrocephalus, blunted appearance angle lateral ventricles, large cisterna magna without abnormality tentorium; female carriers mildly affected" "" "" "" "" "" "" "" "" "" "" "" "" "0000038755" "00825" "00052133" "00006" "Isolated (sporadic)" "13y" "born at term, pregnancy and delivery uneventful; 2y-psychomotor delay; walk-18m, language severely delayed; 11y-brain CT scan retrocerebellar cyst with tentorial dysplasia, small vermis, dilated ventricles requiring ventriculoperitoneal shunting; 13y-dysmorphic features, deeply set eyes, prominent roof nose, prominent chin, OFC 57.5cm (>97th), weight 63kg (>97th), height 158.5cm (50th), poor reading, writing not acquired; according to parents behavioural problems, instability, intolerance to frustration" "" "" "" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000105734" "00198" "00132973" "01807" "Unknown" "" "Intellectual disability, severe (HP:0010864); Seizures (HP:0001250); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "" "0000117354" "00198" "00144613" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Seizures (HP:0001250); Postnatal microcephaly (HP:0005484)" "" "" "" "" "" "" "" "" "" "" "" "" "0000142617" "00198" "00180163" "00006" "Familial, X-linked recessive" "" "Epilepsy (HP:0001250), moderate intellectual disability (HP:0002342), nystagmus (HP:0000639). Head MRI: cerebellar hypoplasia (HP:0001321), corpus callosum hypoplasia (HP:0002079), oligohydramnios (HP:0001562)." "" "" "" "" "" "" "" "" "" "mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance" "epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations" "" "0000143867" "00187" "00183113" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000143868" "00187" "00183114" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000143913" "00187" "00183159" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000143914" "00187" "00183160" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000143922" "00187" "00183168" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000143924" "00187" "00183170" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000232892" "00825" "00307050" "03746" "Familial, X-linked recessive" "18y" "Uneventful pregnancy and delivery. Birth weight: 3650 g, birth length: 52 cm, birth head circumference: 34 cm. Neurodevelopmental delay (head control at 6 months, sitting at 10 months, walking unaided at 17 months, first sentences at 4 years) . At school age, poor educational achievement and hyperactive behavior, requiring treatment with methylphenidate. Moderate intellectual disability (full scale IQ 49 on WISC scale). At last follow-up (18.5 years of age) strabismus and mild motor dyspraxia, with no signs of ataxia or pyramidal deficit. Facial dysmorphisms (including long face with prominent forehead, hypothelorism, deep-set eyes, large ears, long and tubular nose, short philtrum, thin upper lip and prominent chin). Symmetrical enlargement of lateral ventricles, cerebellar hypoplasia (mainly affecting the vermis) and inferior vermian dysplasia on brain MRI, with no signs of neuroradiological progression." "" "" "" "" "" "" "" "" "" "" "" "" "0000232893" "00825" "00307068" "03746" "Familial, X-linked recessive" "17y" "Uneventful pregnancy and delivery. Developmental delay with prevalent impairment of language skills. Macrocephaly (>97°), slight dysmorphic features (including prominent auricle, thin upper lip, fleshy lower lip, and thinning of the inner third of the eyebrows). Autistic traits, hyperactivity, severe-moderate intellectual disability (IQ 41 with a severe impairment of adaptive skills) and oral dyspraxia. Generalized epilepsy (EEG detecting active multifocal abnormalities), treated with valproic acid. Cerebellar vermis hypoplasia and thin corpus callosum on brain MRI." "" "" "" "" "" "" "" "" "" "" "" "" "0000257004" "00139" "00361599" "00006" "Unknown" "3y" "syndromic; global developmental delay, hydrocephalus, syndactyly" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000270009" "00198" "00374799" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000274674" "00825" "00380821" "00000" "Familial" "" "ID; cerebellar hypoplasia (Neurological)" "" "" "" "" "" "" "" "" "" "X-linked mental retardation with cerebellar hypoplasia" "" "" "0000286158" "02159" "00392294" "04204" "Familial, X-linked" "06y" "Pathogenic variants in the Oligophrenin 1 gene (OPHN1) cause an X-linked intellectual disability syndrome with a phenotype typically consisting of cerebellar hypoplasia, ventriculomegaly, seizures, facial dysmorphism, speech delay and sometimes behavioral difficulties. We describe a male patient with global developmental delay, and cerebellar hypoplasia and other neuroanatomical findings suggestive of a Dandy-Walker malformation. The clinical pontocerebellar hypoplasia sequencing panel revealed a partial duplication from exon 7 to exon 15 in OPHN1, which was maternally inherited. PCR-Sanger sequencing of cDNA showed a truncating frameshift in the OPHN1 transcript. Further, transcript level analysis of OPHN1 showed a 75% reduction in the total expression in the patient in comparison to controls. Presumably this leads to a similar reduction in the level of OPHN1 protein resulting in the observed phenotype. This is the first report of a partial duplication of exons 7-15 in OPHN1 in a patient with strabismus, speech delay, dysmorphic facial features, epilepsy, an autism-like phenotype, and developmental delay." "02y" "" "" "by birth" "OLIGOPHRENIN 1" "" "" "" "" "Intellectual developmental disorder, X-linked syndromic, Billuart type" "Intellectual developmental disorder, X-linked syndromic, Billuart type" "" "0000302663" "00198" "00410560" "00006" "Familial, X-linked recessive" "" "see paper; ..., onset neonatal, intellectual disability, epilepsy, autism, aggression, auto mutilation, no family history" "" "" "" "" "" "" "" "" "" "MRXSBL" "" "" "0000318921" "00198" "00427975" "00006" "Familial, X-linked recessive" "5y" "" "" "" "" "" "" "" "" "" "" "Mental retardation with cerebellar hypoplasia and distinctive facial appearance" "" "" "0000318962" "00198" "00428016" "00006" "Familial, X-linked recessive" "12y" "" "" "" "" "" "" "" "" "" "" "Mental retardation with cerebellar hypoplasia and distinctive facial appearance" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 37 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000016935" "00016958" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000016936" "00016959" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000016937" "00016960" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000016938" "00016961" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000016995" "00017018" "1" "00714" "00001" "2014-06-04 13:29:56" "" "" "SEQ" "DNA" "" "" "0000052057" "00052110" "1" "01418" "01418" "2015-10-15 23:55:19" "" "" "SEQ-NG" "DNA" "" "" "0000052060" "00052112" "1" "01418" "01418" "2015-10-16 00:11:18" "" "" "SEQ-NG" "DNA" "" "" "0000052061" "00052113" "1" "01418" "01418" "2015-10-16 00:20:13" "" "" "SEQ-NG" "DNA" "" "" "0000052078" "00052130" "1" "00006" "00006" "2015-10-16 18:23:29" "" "" "DGGE;RT-PCR;SEQ" "DNA;RNA" "" "" "0000052079" "00052131" "1" "00006" "00006" "2015-10-16 18:59:04" "" "" "FISH;MIC;RT-PCR" "DNA;RNA" "" "" "0000052080" "00052132" "1" "00006" "00006" "2015-10-16 19:20:03" "" "" "SEQ" "DNA" "" "" "0000052081" "00052133" "1" "00006" "00006" "2015-10-16 19:40:55" "" "" "SEQ" "DNA" "" "" "0000133807" "00132973" "0" "01807" "01807" "2017-11-10 16:51:27" "" "" "SEQ" "DNA" "" "" "0000145470" "00144613" "0" "01807" "01807" "2017-12-18 12:53:43" "" "" "SEQ" "DNA" "" "" "0000181066" "00180163" "1" "00006" "00006" "2018-08-24 19:40:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000184071" "00183113" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000184072" "00183114" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000184117" "00183159" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000184118" "00183160" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000184126" "00183168" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000184128" "00183170" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000296251" "00295083" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306445" "00305316" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308208" "00307050" "1" "03746" "03746" "2020-07-28 19:40:39" "" "" "SEQ-NG" "DNA" "blood" "" "0000308209" "00307068" "1" "03746" "03746" "2020-07-28 19:52:12" "" "" "SEQ-NG" "DNA" "blood" "" "0000308897" "00307757" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000308898" "00307758" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000362827" "00361599" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000375993" "00374799" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000382035" "00380821" "1" "00000" "03840" "2021-08-23 12:15:23" "" "" "SEQ-NG-I" "DNA" "" "whole exome sequencing" "0000393536" "00392294" "1" "04204" "04204" "2021-11-22 12:02:29" "00006" "2021-11-29 16:57:59" "PCRq;RT-PCR;SEQ;SEQ-NG" "DNA" "blood" "clinical pontocerebellar hypoplasia sequencing panel" "0000393759" "00392513" "1" "04204" "04204" "2021-11-23 08:37:58" "" "" "arrayCGH;PCR;RT-PCR;RT-PCRq;SEQ-NG;SEQ-NG-I" "DNA" "blood" "The clinical pontocerebellar hypoplasia sequencing panel" "0000411825" "00410560" "1" "00006" "00006" "2022-05-29 10:39:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000429388" "00427975" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood, peripheral blood mononuclear cells" "duo WES" "0000429429" "00428016" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood" "duo WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{geneid}}" "0000016935" "OPHN1" "0000016936" "OPHN1" "0000016937" "OPHN1" "0000016938" "OPHN1" "0000016995" "OPHN1" "0000052057" "OPHN1" "0000052060" "OPHN1" "0000052061" "OPHN1" "0000052078" "OPHN1" "0000052079" "OPHN1" "0000052080" "OPHN1" "0000052081" "OPHN1" "0000181066" "OPHN1" "0000184071" "OPHN1" "0000184072" "OPHN1" "0000184117" "OPHN1" "0000184118" "OPHN1" "0000184126" "OPHN1" "0000184128" "OPHN1" "0000308897" "OPHN1" "0000308898" "OPHN1" "0000362827" "OPHN1" "0000375993" "OPHN1" "0000393536" "OPHN1" ## 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 = 123 "{{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}}" "0000001986" "0" "50" "X" "67273805" "67273805" "dup" "0" "00037" "OPHN1_000007" "g.67273805dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68053963dup" "" "VUS" "" "0000003020" "0" "50" "X" "67273790" "67273790" "del" "0" "00037" "OPHN1_000021" "g.67273790del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.68053948del" "" "VUS" "" "0000003021" "0" "50" "X" "67429834" "67429834" "del" "0" "00037" "OPHN1_000018" "g.67429834del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.68209992del" "" "VUS" "" "0000007041" "20" "50" "X" "67412906" "67412906" "subst" "0" "00037" "OPHN1_000009" "g.67412906G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68193064G>A" "" "VUS" "" "0000007042" "20" "50" "X" "67429457" "67429457" "subst" "0" "00037" "OPHN1_000006" "g.67429457T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.68209615T>C" "" "VUS" "" "0000007043" "20" "50" "X" "67431814" "67431814" "subst" "0" "00037" "OPHN1_000011" "g.67431814A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.68211972A>G" "" "VUS" "" "0000007044" "20" "50" "X" "67652513" "67652513" "subst" "0" "00037" "OPHN1_000015" "g.67652513A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.68432671A>G" "" "VUS" "" "0000009129" "0" "50" "X" "67273933" "67273933" "subst" "0" "00037" "OPHN1_000008" "g.67273933C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68054091C>A" "" "VUS" "" "0000009130" "20" "50" "X" "67412906" "67412906" "subst" "0" "00037" "OPHN1_000009" "g.67412906G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.68193064G>A" "" "VUS" "" "0000009131" "20" "50" "X" "67431814" "67431814" "subst" "0" "00037" "OPHN1_000011" "g.67431814A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.68211972A>G" "" "VUS" "" "0000009132" "20" "50" "X" "67652513" "67652513" "subst" "0" "00037" "OPHN1_000015" "g.67652513A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.68432671A>G" "" "VUS" "" "0000011016" "0" "50" "X" "67429834" "67429834" "del" "0" "00037" "OPHN1_000018" "g.67429834del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.68209992del" "" "VUS" "" "0000011017" "0" "50" "X" "67429834" "67429835" "del" "0" "00037" "OPHN1_000020" "g.67429834_67429835del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.68209992_68209993del" "" "VUS" "" "0000015015" "20" "50" "X" "67429457" "67429457" "subst" "0" "00037" "OPHN1_000006" "g.67429457T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.68209615T>C" "" "VUS" "" "0000015017" "20" "50" "X" "67432299" "67432299" "subst" "0" "00037" "OPHN1_000014" "g.67432299C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.68212457C>T" "" "VUS" "" "0000036928" "1" "55" "X" "67652748" "67652748" "subst" "0.0577872" "00124" "OPHN1_000001" "g.67652748C>T" "12/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 12 times" "Germline" "?" "" "0" "" "" "g.68432906C>T" "" "VUS" "" "0000036929" "1" "55" "X" "67283899" "67283899" "subst" "0.000022495" "00124" "OPHN1_000002" "g.67283899G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, non-recurrent change" "Germline" "?" "" "0" "" "" "g.68064057G>A" "" "VUS" "" "0000036930" "1" "55" "X" "67273643" "67273643" "subst" "0.000207228" "00124" "OPHN1_000003" "g.67273643T>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, non-recurrent change" "Germline" "?" "" "0" "" "" "g.68053801T>C" "" "VUS" "" "0000036931" "1" "55" "X" "67454381" "67454381" "subst" "0" "00124" "OPHN1_000004" "g.67454381A>G" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, non-recurrent change" "Germline" "?" "" "0" "" "" "g.68234539A>G" "" "VUS" "" "0000036932" "21" "90" "X" "67331733" "67331733" "subst" "0" "00714" "OPHN1_000005" "g.67331733G>A" "" "{PMID:Tzschach 2015:25649377}" "" "" "" "Germline" "?" "" "0" "" "" "g.68111891G>A" "" "pathogenic" "" "0000081497" "0" "70" "X" "67433711" "67433711" "subst" "0" "01418" "OPHN1_000024" "g.67433711A>T" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.68213869A>T" "" "likely pathogenic" "" "0000081500" "0" "70" "X" "67433752" "67433752" "dup" "0" "01418" "OPHN1_000023" "g.67433752dup" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.68213910dup" "" "likely pathogenic" "" "0000081502" "0" "70" "X" "67283819" "67283819" "subst" "0" "01418" "OPHN1_000022" "g.67283819C>T" "" "" "" "" "" "Germline" "-" "" "0" "" "" "g.68063977C>T" "" "likely pathogenic" "" "0000081518" "21" "90" "X" "67316820" "67316820" "del" "0" "00006" "OPHN1_000010" "g.67316820del" "" "{PMID:Billuart 1998:09582072}, {DOI:Billuart 1998:10.1038/31940}, {OMIM300127:0001}" "" "1578del" "mRNA hardly detectable (NMD); variant not in 100 control chromosomes" "Germline" "yes" "" "0" "" "" "g.68096978del" "" "pathogenic" "" "0000081519" "0" "90" "X" "0" "0" "" "0" "00006" "OPHN1_000000" "g.(67518939_67652708)_qterdelins[NC_000012.11:(67700000_71500000)_qter]" "" "{PMID:Bienvenu 1997:09195162}, {PMID:Billuart 1998:09582072}, {DOI:Billuart 1998:10.1038/31940}" "" "" "t(X;12) balanced translocation" "Germline/De novo (untested)" "" "" "0" "" "t(X;12)(q11;q15)" "" "" "pathogenic" "" "0000081520" "21" "90" "X" "67430080" "67430087" "dup" "0" "00006" "OPHN1_000012" "g.67430080_67430087dup" "" "{PMID:Philip 2003:12807966}, {DOI:Philip 2003:10.1136/jmg.40.6.441}, {OMIM300127:0002}" "" "1385insAAGAACTT (AAGAATTC)" "normal RNA levels; random X-inactivation in carrier females" "Germline" "yes" "" "0" "" "" "g.68210238_68210245dup" "" "pathogenic" "" "0000081521" "0" "90" "X" "67518909" "67518909" "subst" "0" "00006" "OPHN1_000013" "g.67518909G>A" "" "{PMID:Philip 2003:12807966}, {DOI:Philip 2003:10.1136/jmg.40.6.441}, {OMIM300127:0002}" "" "C>T ex3 (Q62X)" "" "Unknown" "" "" "0" "" "" "g.68299067G>A" "" "pathogenic" "" "0000223235" "3" "90" "X" "67333022" "67333033" "del" "0" "01807" "OPHN1_000025" "g.67333022_67333033delinsT" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.68113180_68113191delinsT" "" "pathogenic" "" "0000237842" "3" "90" "X" "67412773" "67412773" "del" "0" "01807" "OPHN1_000026" "g.67412773del" "" "" "" "1265delA" "" "Unknown" "" "" "0" "" "" "g.68192931del" "" "pathogenic" "" "0000252360" "0" "30" "X" "67417121" "67417121" "subst" "0.000248879" "02326" "OPHN1_000039" "g.67417121A>T" "" "" "" "OPHN1(NM_002547.3):c.1026-15T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68197279A>T" "" "likely benign" "" "0000296680" "0" "30" "X" "67433722" "67433722" "subst" "0.00161667" "02325" "OPHN1_000047" "g.67433722C>T" "" "" "" "OPHN1(NM_002547.3):c.579G>A (p.K193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68213880C>T" "" "likely benign" "" "0000296681" "0" "30" "X" "67426446" "67426446" "subst" "0.00221126" "02325" "OPHN1_000041" "g.67426446G>A" "" "" "" "OPHN1(NM_002547.2):c.902C>T (p.T301M, p.(Thr301Met)), OPHN1(NM_002547.3):c.902C>T (p.T301M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68206604G>A" "" "likely benign" "" "0000300524" "0" "30" "X" "67652730" "67652730" "subst" "0.000907405" "02326" "OPHN1_000050" "g.67652730C>T" "" "" "" "OPHN1(NM_002547.2):c.133G>A (p.A45T), OPHN1(NM_002547.3):c.133G>A (p.A45T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68432888C>T" "" "likely benign" "" "0000300525" "0" "10" "X" "67331932" "67331932" "subst" "0" "02326" "OPHN1_000034" "g.67331932G>C" "" "" "" "OPHN1(NM_002547.3):c.1421-131C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68112090G>C" "" "benign" "" "0000300526" "0" "10" "X" "67331934" "67331934" "subst" "0" "02326" "OPHN1_000035" "g.67331934G>C" "" "" "" "OPHN1(NM_002547.3):c.1421-133C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68112092G>C" "" "benign" "" "0000300527" "0" "10" "X" "67652640" "67652640" "subst" "0" "02326" "OPHN1_000049" "g.67652640T>G" "" "" "" "OPHN1(NM_002547.3):c.154+69A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68432798T>G" "" "benign" "" "0000300528" "0" "30" "X" "67283825" "67283825" "subst" "0.00126507" "02326" "OPHN1_000033" "g.67283825G>T" "" "" "" "OPHN1(NM_002547.2):c.2029C>A (p.L677M, p.(Leu677Met)), OPHN1(NM_002547.3):c.2029C>A (p.L677M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68063983G>T" "" "likely benign" "" "0000300529" "0" "30" "X" "67283798" "67283798" "subst" "0.000428317" "02326" "OPHN1_000032" "g.67283798G>A" "" "" "" "OPHN1(NM_002547.2):c.2056C>T (p.P686S), OPHN1(NM_002547.3):c.2056C>T (p.P686S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68063956G>A" "" "likely benign" "" "0000300530" "0" "30" "X" "67431939" "67431939" "subst" "0.00132939" "02326" "OPHN1_000045" "g.67431939T>G" "" "" "" "OPHN1(NM_002547.3):c.702+11A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68212097T>G" "" "likely benign" "" "0000300531" "0" "10" "X" "67429883" "67429883" "subst" "0" "02326" "OPHN1_000044" "g.67429883T>C" "" "" "" "OPHN1(NM_002547.3):c.832+112A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68210041T>C" "" "benign" "" "0000300532" "0" "10" "X" "67429846" "67429847" "del" "0" "02326" "OPHN1_000043" "g.67429846_67429847del" "" "" "" "OPHN1(NM_002547.3):c.832+159_832+160delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68210004_68210005del" "" "benign" "" "0000300534" "0" "30" "X" "67426446" "67426446" "subst" "0.00221126" "02326" "OPHN1_000041" "g.67426446G>A" "" "" "" "OPHN1(NM_002547.2):c.902C>T (p.T301M, p.(Thr301Met)), OPHN1(NM_002547.3):c.902C>T (p.T301M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68206604G>A" "" "likely benign" "" "0000304787" "0" "50" "X" "67518889" "67518889" "subst" "0" "01943" "OPHN1_000048" "g.67518889C>A" "" "" "" "OPHN1(NM_002547.2):c.204G>T (p.Q68H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68299047C>A" "" "VUS" "" "0000304788" "0" "50" "X" "67273589" "67273589" "subst" "0" "01943" "OPHN1_000030" "g.67273589G>A" "" "" "" "OPHN1(NM_002547.2):c.2222C>T (p.P741L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68053747G>A" "" "VUS" "" "0000304789" "0" "30" "X" "67273504" "67273504" "subst" "0.000456608" "01943" "OPHN1_000029" "g.67273504C>T" "" "" "" "OPHN1(NM_002547.2):c.2307G>A (p.G769=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68053662C>T" "" "likely benign" "" "0000304790" "0" "50" "X" "67272394" "67272394" "subst" "0" "01943" "OPHN1_000027" "g.67272394C>T" "" "" "" "OPHN1(NM_002547.2):c.2363G>A (p.R788Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68052552C>T" "" "VUS" "" "0000304791" "0" "30" "X" "67426446" "67426446" "subst" "0.00221126" "01943" "OPHN1_000041" "g.67426446G>A" "" "" "" "OPHN1(NM_002547.2):c.902C>T (p.T301M, p.(Thr301Met)), OPHN1(NM_002547.3):c.902C>T (p.T301M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68206604G>A" "" "likely benign" "" "0000304792" "0" "30" "X" "67426445" "67426445" "subst" "0.0000615791" "01943" "OPHN1_000040" "g.67426445C>T" "" "" "" "OPHN1(NM_002547.2):c.903G>A (p.T301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68206603C>T" "" "likely benign" "" "0000334464" "0" "30" "X" "67283825" "67283825" "subst" "0.00126507" "01804" "OPHN1_000033" "g.67283825G>T" "" "" "" "OPHN1(NM_002547.2):c.2029C>A (p.L677M, p.(Leu677Met)), OPHN1(NM_002547.3):c.2029C>A (p.L677M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68063983G>T" "" "likely benign" "" "0000334466" "0" "50" "X" "67413749" "67413749" "subst" "0.0000841194" "01804" "OPHN1_000037" "g.67413749T>C" "" "" "" "OPHN1(NM_002547.2):c.1184A>G (p.N395S, p.(Asn395Ser)), OPHN1(NM_002547.3):c.1184A>G (p.N395S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68193907T>C" "" "VUS" "" "0000334467" "0" "50" "X" "67414325" "67414325" "subst" "0" "01804" "OPHN1_000038" "g.67414325T>C" "" "" "" "OPHN1(NM_002547.2):c.1120A>G (p.(Ile374Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68194483T>C" "" "VUS" "" "0000334468" "0" "30" "X" "67426446" "67426446" "subst" "0.00221126" "01804" "OPHN1_000041" "g.67426446G>A" "" "" "" "OPHN1(NM_002547.2):c.902C>T (p.T301M, p.(Thr301Met)), OPHN1(NM_002547.3):c.902C>T (p.T301M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68206604G>A" "" "likely benign" "" "0000344935" "0" "50" "X" "67518889" "67518889" "subst" "0" "02327" "OPHN1_000057" "g.67518889C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68299047C>G" "" "VUS" "" "0000345189" "0" "70" "X" "67433775" "67433776" "ins" "0" "02327" "OPHN1_000056" "g.67433775_67433776insT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68213933_68213934insT" "" "likely pathogenic" "" "0000346274" "0" "50" "X" "67268292" "67268292" "subst" "0" "02327" "OPHN1_000051" "g.67268292C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68048450C>T" "" "VUS" "" "0000346890" "0" "50" "X" "67652826" "67652826" "subst" "0" "02327" "OPHN1_000058" "g.67652826G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68432984G>C" "" "VUS" "" "0000348043" "0" "50" "X" "67412767" "67412767" "subst" "0.0000168291" "02327" "OPHN1_000055" "g.67412767A>C" "" "" "" "OPHN1(NM_002547.2):c.1270T>G (p.F424V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68192925A>C" "" "VUS" "" "0000348526" "0" "50" "X" "67283998" "67283998" "subst" "0.00000562886" "02327" "OPHN1_000053" "g.67283998G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68064156G>A" "" "VUS" "" "0000349150" "0" "50" "X" "67273641" "67273641" "subst" "0.0000172325" "02327" "OPHN1_000052" "g.67273641T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68053799T>C" "" "VUS" "" "0000350791" "0" "30" "X" "67331725" "67331725" "subst" "0" "02327" "OPHN1_000054" "g.67331725C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68111883C>T" "" "likely benign" "" "0000404702" "1" "70" "X" "67430081" "67430081" "subst" "0" "00006" "OPHN1_000059" "g.67430081A>G" "" "{PMID:Tumienė 2018:29286531}" "" "" "" "De novo" "" "" "0" "" "" "g.68210239A>G" "" "likely pathogenic" "ACMG" "0000408040" "21" "90" "X" "67502961" "67502961" "subst" "0" "00006" "OPHN1_000065" "g.67502961T>C" "" "{PMID:Hu 2016:25644381}" "" "OPHN1 splice acceptor" "" "Germline" "yes" "" "0" "" "" "g.68283119T>C" "" "pathogenic" "" "0000408041" "20" "90" "X" "67292996" "67339176" "del" "0" "00006" "OPHN1_000060" "g.67292996_67339176del" "" "{PMID:Hu 2016:25644381}" "" "OPHN1 D612*" "" "Germline" "" "" "0" "" "" "g.68073154_68119334del" "" "pathogenic" "" "0000408086" "21" "90" "X" "67331711" "67331714" "del" "0" "00006" "OPHN1_000063" "g.67331711_67331714del" "" "{PMID:Hu 2016:25644381}" "" "OPHN1 L503Qfs*16" "" "Germline" "yes" "" "0" "" "" "g.68111869_68111872del" "" "pathogenic" "" "0000408087" "20" "90" "X" "67454412" "67454412" "subst" "0" "00006" "OPHN1_000064" "g.67454412C>A" "" "{PMID:Hu 2016:25644381}" "" "OPHN1 E135*" "" "Germline" "" "" "0" "" "" "g.68234570C>A" "" "pathogenic" "" "0000408095" "21" "70" "X" "67316813" "67316813" "subst" "0" "00006" "OPHN1_000061" "g.67316813C>G" "" "{PMID:Hu 2016:25644381}" "" "OPHN1 G529R" "" "Germline" "yes" "" "0" "" "" "g.68096971C>G" "" "likely pathogenic" "" "0000408097" "20" "70" "X" "67316872" "67316872" "subst" "0" "00006" "OPHN1_000062" "g.67316872C>T" "" "{PMID:Hu 2016:25644381}" "" "OPHN1 splice acceptor" "" "Germline" "" "" "0" "" "" "g.68097030C>T" "" "likely pathogenic" "" "0000577043" "0" "30" "X" "67272394" "67272394" "subst" "0" "02327" "OPHN1_000027" "g.67272394C>T" "" "" "" "OPHN1(NM_002547.2):c.2363G>A (p.R788Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68052552C>T" "" "likely benign" "" "0000577044" "0" "30" "X" "67272395" "67272395" "subst" "0.000240999" "02326" "OPHN1_000066" "g.67272395G>A" "" "" "" "OPHN1(NM_002547.2):c.2362C>T (p.R788W, p.(Arg788Trp)), OPHN1(NM_002547.3):c.2362C>T (p.R788W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68052553G>A" "" "likely benign" "" "0000577046" "0" "30" "X" "67283825" "67283825" "subst" "0.00126507" "01943" "OPHN1_000033" "g.67283825G>T" "" "" "" "OPHN1(NM_002547.2):c.2029C>A (p.L677M, p.(Leu677Met)), OPHN1(NM_002547.3):c.2029C>A (p.L677M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68063983G>T" "" "likely benign" "" "0000577047" "0" "70" "X" "67412775" "67412775" "subst" "0" "02327" "OPHN1_000067" "g.67412775A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68192933A>G" "" "likely pathogenic" "" "0000577048" "0" "30" "X" "67412840" "67412840" "subst" "0" "01804" "OPHN1_000068" "g.67412840T>C" "" "" "" "OPHN1(NM_002547.2):c.1202-5A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68192998T>C" "" "likely benign" "" "0000577049" "0" "50" "X" "67413749" "67413749" "subst" "0.0000841194" "01943" "OPHN1_000037" "g.67413749T>C" "" "" "" "OPHN1(NM_002547.2):c.1184A>G (p.N395S, p.(Asn395Ser)), OPHN1(NM_002547.3):c.1184A>G (p.N395S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68193907T>C" "" "VUS" "" "0000577050" "0" "30" "X" "67413749" "67413749" "subst" "0.0000841194" "02326" "OPHN1_000037" "g.67413749T>C" "" "" "" "OPHN1(NM_002547.2):c.1184A>G (p.N395S, p.(Asn395Ser)), OPHN1(NM_002547.3):c.1184A>G (p.N395S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68193907T>C" "" "likely benign" "" "0000577051" "0" "50" "X" "67414311" "67414311" "subst" "0" "01943" "OPHN1_000069" "g.67414311T>G" "" "" "" "OPHN1(NM_002547.2):c.1134A>C (p.Q378H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68194469T>G" "" "VUS" "" "0000577053" "0" "30" "X" "67426463" "67426463" "subst" "0" "01943" "OPHN1_000071" "g.67426463G>C" "" "" "" "OPHN1(NM_002547.2):c.885C>G (p.T295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68206621G>C" "" "likely benign" "" "0000577054" "0" "50" "X" "67426493" "67426493" "subst" "0" "01943" "OPHN1_000072" "g.67426493C>T" "" "" "" "OPHN1(NM_002547.2):c.855G>A (p.V285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68206651C>T" "" "VUS" "" "0000577055" "0" "30" "X" "67429979" "67429979" "subst" "0.00100003" "02326" "OPHN1_000073" "g.67429979C>T" "" "" "" "OPHN1(NM_002547.3):c.832+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68210137C>T" "" "likely benign" "" "0000577056" "0" "90" "X" "67431948" "67431948" "subst" "0" "02327" "OPHN1_000074" "g.67431948A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68212106A>G" "" "pathogenic" "" "0000577058" "0" "50" "X" "67653009" "67653009" "subst" "0" "01943" "OPHN1_000076" "g.67653009C>T" "" "" "" "OPHN1(NM_002547.2):c.-5+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68433167C>T" "" "VUS" "" "0000619782" "0" "30" "X" "67272395" "67272395" "subst" "0.000240999" "01804" "OPHN1_000066" "g.67272395G>A" "" "" "" "OPHN1(NM_002547.2):c.2362C>T (p.R788W, p.(Arg788Trp)), OPHN1(NM_002547.3):c.2362C>T (p.R788W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68052553G>A" "" "likely benign" "" "0000619783" "0" "50" "X" "67283720" "67283720" "subst" "0" "01943" "OPHN1_000077" "g.67283720G>A" "" "" "" "OPHN1(NM_002547.2):c.2134C>T (p.R712W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68063878G>A" "" "VUS" "" "0000619784" "0" "30" "X" "67283869" "67283869" "subst" "0" "01804" "OPHN1_000078" "g.67283869A>G" "" "" "" "OPHN1(NM_002547.2):c.1985T>C (p.(Leu662Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68064027A>G" "" "likely benign" "" "0000619785" "0" "30" "X" "67283997" "67283997" "subst" "0" "01943" "OPHN1_000079" "g.67283997C>T" "" "" "" "OPHN1(NM_002547.2):c.1857G>A (p.P619=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68064155C>T" "" "likely benign" "" "0000619786" "0" "50" "X" "67412767" "67412767" "subst" "0.0000168291" "01943" "OPHN1_000055" "g.67412767A>C" "" "" "" "OPHN1(NM_002547.2):c.1270T>G (p.F424V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68192925A>C" "" "VUS" "" "0000619787" "0" "30" "X" "67417116" "67417116" "subst" "0.000118819" "01943" "OPHN1_000080" "g.67417116A>G" "" "" "" "OPHN1(NM_002547.2):c.1026-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68197274A>G" "" "likely benign" "" "0000619788" "0" "30" "X" "67430122" "67430122" "subst" "0.000196833" "01943" "OPHN1_000081" "g.67430122T>G" "" "" "" "OPHN1(NM_002547.2):c.705A>C (p.T235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68210280T>G" "" "likely benign" "" "0000624690" "0" "50" "X" "67518943" "67518943" "subst" "0" "01943" "OPHN1_000082" "g.67518943A>G" "" "" "" "OPHN1(NM_002547.2):c.155-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68299101A>G" "" "VUS" "" "0000624691" "0" "30" "X" "67652730" "67652730" "subst" "0.000907405" "01943" "OPHN1_000050" "g.67652730C>T" "" "" "" "OPHN1(NM_002547.2):c.133G>A (p.A45T), OPHN1(NM_002547.3):c.133G>A (p.A45T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68432888C>T" "" "likely benign" "" "0000652940" "1" "10" "X" "67652748" "67652748" "subst" "0.0577872" "03575" "OPHN1_000001" "g.67652748C>T" "49/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "49 heterozygous; {DB:CLININrs41303733}" "Germline" "" "rs41303733" "0" "" "" "g.68432906C>T" "" "benign" "" "0000659417" "0" "30" "X" "67293106" "67293106" "subst" "0.0000168883" "01943" "OPHN1_000083" "g.67293106C>T" "" "" "" "OPHN1(NM_002547.2):c.1722G>A (p.P574=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68073264C>T" "" "likely benign" "" "0000659418" "0" "30" "X" "67293129" "67293129" "subst" "0.0000114765" "01804" "OPHN1_000084" "g.67293129G>T" "" "" "" "OPHN1(NM_002547.2):c.1699C>A (p.(Pro567Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68073287G>T" "" "likely benign" "" "0000659419" "0" "30" "X" "67518856" "67518856" "subst" "0.000196093" "01943" "OPHN1_000085" "g.67518856A>G" "" "" "" "OPHN1(NM_002547.2):c.237T>C (p.D79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68299014A>G" "" "likely benign" "" "0000670133" "0" "10" "X" "67652748" "67652748" "subst" "0.0577872" "03575" "OPHN1_000001" "g.67652748C>T" "33/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "33 homozygous; {DB:CLININrs41303733}" "Germline" "" "rs41303733" "0" "" "" "g.68432906C>T" "" "benign" "" "0000675061" "21" "50" "X" "67652736" "67652747" "del" "0" "03746" "OPHN1_000086" "g.67652736_67652747del" "" "{PMID:Nuovo 2021:33638601}" "" "" "" "Germline" "yes" "" "0" "" "" "g.68432894_68432905del" "" "VUS" "ACMG" "0000675066" "21" "50" "X" "67283725" "67283725" "subst" "0" "03746" "OPHN1_000087" "g.67283725G>A" "" "{PMID:Nuovo 2021:33638601}" "" "" "" "Germline" "" "" "0" "" "" "g.68063883G>A" "" "VUS" "ACMG" "0000682583" "0" "50" "X" "67426495" "67426495" "subst" "0.000039197" "01943" "OPHN1_000089" "g.67426495C>T" "" "" "" "OPHN1(NM_002547.2):c.853G>A (p.V285M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682584" "0" "50" "X" "67652762" "67652762" "subst" "0" "02327" "OPHN1_000090" "g.67652762T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000683331" "0" "70" "X" "67414306" "67414306" "subst" "0" "00006" "OPHN1_000091" "g.67414306G>A" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.68194464G>A" "" "likely pathogenic" "" "0000683332" "0" "70" "X" "67331733" "67331733" "subst" "0" "00006" "OPHN1_000005" "g.67331733G>A" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.68111891G>A" "" "likely pathogenic" "" "0000693698" "0" "30" "X" "67273508" "67273508" "subst" "0.000107058" "01943" "OPHN1_000092" "g.67273508G>A" "" "" "" "OPHN1(NM_002547.2):c.2303C>T (p.A768V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729118" "0" "30" "X" "67273477" "67273477" "subst" "0.00069886" "01943" "OPHN1_000093" "g.67273477C>A" "" "" "" "OPHN1(NM_002547.2):c.2324+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729119" "0" "30" "X" "67283798" "67283798" "subst" "0.000428317" "01943" "OPHN1_000032" "g.67283798G>A" "" "" "" "OPHN1(NM_002547.2):c.2056C>T (p.P686S), OPHN1(NM_002547.3):c.2056C>T (p.P686S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729120" "0" "30" "X" "67331761" "67331761" "subst" "0" "01943" "OPHN1_000094" "g.67331761G>A" "" "" "" "OPHN1(NM_002547.2):c.1461C>T (p.S487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729121" "0" "50" "X" "67339165" "67339165" "subst" "0" "02327" "OPHN1_000095" "g.67339165C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729122" "0" "50" "X" "67413750" "67413750" "subst" "0.0000224322" "02329" "OPHN1_000096" "g.67413750T>C" "" "" "" "OPHN1(NM_002547.3):c.1183A>G (p.N395D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729123" "0" "50" "X" "67652844" "67652844" "subst" "0" "02329" "OPHN1_000075" "g.67652844C>T" "" "" "" "OPHN1(NM_002547.3):c.19G>A (p.E7K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729124" "0" "30" "X" "67652851" "67652851" "subst" "0.0000428203" "01943" "OPHN1_000097" "g.67652851G>C" "" "" "" "OPHN1(NM_002547.2):c.12C>G (p.P4=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000763201" "1" "70" "X" "67432014" "67432014" "subst" "0" "00006" "OPHN1_000098" "g.67432014A>G" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PM1, PM2, PP2, PP3" "Germline" "" "" "0" "" "" "g.68212172A>G" "" "likely pathogenic" "ACMG" "0000787344" "0" "50" "X" "67316716" "67316716" "subst" "0.000100852" "00006" "OPHN1_000099" "g.67316716C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs751031568" "0" "" "" "g.68096874C>T" "" "VUS" "" "0000795669" "21" "70" "X" "67652859" "67652859" "subst" "0" "00000" "OPHN1_000100" "g.67652859C>G" "" "{PMID:Nair 2018:30293248}" "" "NM_002547.2:c.4G>C; p.Gly2Arg" "" "Unknown" "?" "rs1200813419" "0" "" "" "g.68433017C>G" "" "likely pathogenic" "" "0000810594" "0" "30" "X" "67272395" "67272395" "subst" "0.000240999" "01943" "OPHN1_000066" "g.67272395G>A" "" "" "" "OPHN1(NM_002547.2):c.2362C>T (p.R788W, p.(Arg788Trp)), OPHN1(NM_002547.3):c.2362C>T (p.R788W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810595" "0" "30" "X" "67273643" "67273643" "subst" "0.000207228" "01943" "OPHN1_000003" "g.67273643T>C" "" "" "" "OPHN1(NM_002547.2):c.2168A>G (p.D723G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810596" "0" "30" "X" "67413814" "67413814" "dup" "0" "02326" "OPHN1_000101" "g.67413814dup" "" "" "" "OPHN1(NM_002547.3):c.1139-17dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000824306" "21" "90" "X" "67412429" "67434173" "dup" "0" "04204" "OPHN1_000102" "g.67412429_67434173dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.68192587_68214331dup" "" "pathogenic (maternal)" "ACMG" "0000824560" "21" "70" "X" "67412429" "67434173" "dup" "0" "04204" "OPHN1_000102" "g.67412429_67434173dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.68192587_68214331dup" "SUB10705428" "pathogenic" "other" "0000856737" "0" "30" "X" "67652842" "67652842" "subst" "0.00000595813" "01943" "OPHN1_000104" "g.67652842C>T" "" "" "" "OPHN1(NM_002547.2):c.21G>A (p.E7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867509" "0" "50" "X" "67433706" "67433706" "subst" "0" "01943" "OPHN1_000103" "g.67433706G>C" "" "" "" "OPHN1(NM_002547.2):c.595C>G (p.P199A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000869062" "21" "70" "X" "67412811" "67412811" "subst" "0" "00006" "OPHN1_000105" "g.67412811C>T" "" "{PMID:Schuermans 2022:35606766}" "" "" "ACMG PM1, PM2, PM5, PP3" "Germline" "" "" "0" "" "" "g.68192969C>T" "" "likely pathogenic (recessive)" "" "0000896327" "0" "50" "X" "67502953" "67502953" "subst" "0" "02327" "OPHN1_000106" "g.67502953G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896328" "0" "90" "X" "67518885" "67518886" "ins" "0" "02329" "OPHN1_000107" "g.67518885_67518886insT" "" "" "" "OPHN1(NM_002547.3):c.207_208insA (p.D70Rfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000908861" "0" "70" "X" "67431946" "67431946" "subst" "0" "00006" "OPHN1_000109" "g.67431946T>C" "" "{PMID:Bournazos 2022:34906502}" "" "" "transcripts cycloheximide insensitive" "Germline" "" "" "0" "" "" "g.68212104T>C" "" "pathogenic (recessive)" "" "0000908902" "0" "70" "X" "67412836" "67412836" "subst" "0" "00006" "OPHN1_000108" "g.67412836C>T" "" "{PMID:Bournazos 2022:34906502}" "" "" "exon skipping, cryptic splice acceptor" "De novo" "" "" "0" "" "" "g.68192994C>T" "" "likely pathogenic (recessive)" "" ## 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 OPHN1 ## Count = 123 "{{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}}" "0000001986" "00000696" "50" "2159" "-139" "2159" "-139" "c.2159-139dup" "r.(=)" "p.(=)" "21i" "0000003020" "00000696" "50" "2159" "-138" "2159" "-138" "c.2159-138del" "r.(=)" "p.(=)" "" "0000003021" "00000696" "50" "832" "162" "832" "162" "c.832+162del" "r.(=)" "p.(=)" "" "0000007041" "00000696" "50" "1202" "-71" "1202" "-71" "c.1202-71C>T" "r.(?)" "p.(=)" "14i" "0000007042" "00000696" "50" "832" "538" "832" "538" "c.832+538A>G" "r.(=)" "p.(=)" "" "0000007043" "00000696" "50" "702" "136" "702" "136" "c.702+136T>C" "r.(=)" "p.(=)" "" "0000007044" "00000696" "50" "154" "196" "154" "196" "c.154+196T>C" "r.(=)" "p.(=)" "" "0000009129" "00000696" "50" "2159" "-281" "2159" "-281" "c.2159-281G>T" "r.(?)" "p.(=)" "21i" "0000009130" "00000696" "50" "1202" "-71" "1202" "-71" "c.1202-71C>T" "r.(?)" "p.(=)" "14i" "0000009131" "00000696" "50" "702" "136" "702" "136" "c.702+136T>C" "r.(=)" "p.(=)" "" "0000009132" "00000696" "50" "154" "196" "154" "196" "c.154+196T>C" "r.(=)" "p.(=)" "" "0000011016" "00000696" "50" "832" "162" "832" "162" "c.832+162del" "r.(=)" "p.(=)" "" "0000011017" "00000696" "50" "832" "160" "832" "161" "c.832+160_832+161del" "r.(=)" "p.(=)" "" "0000015015" "00000696" "50" "832" "538" "832" "538" "c.832+538A>G" "r.(=)" "p.(=)" "" "0000015017" "00000696" "50" "598" "-245" "598" "-245" "c.598-245G>A" "r.(=)" "p.(=)" "" "0000036928" "00000696" "55" "115" "0" "115" "0" "c.115G>A" "r.(?)" "p.(Val39Ile)" "2" "0000036929" "00000696" "55" "1955" "0" "1955" "0" "c.1955C>T" "r.(?)" "p.(Ser652Phe)" "21" "0000036930" "00000696" "55" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(Asp723Gly)" "22" "0000036931" "00000696" "55" "434" "0" "434" "0" "c.434T>C" "r.(?)" "p.(Leu145Pro)" "6" "0000036932" "00000696" "90" "1489" "0" "1489" "0" "c.1489C>T" "r.(?)" "p.(Arg497*)" "18" "0000081497" "00000696" "70" "590" "0" "590" "0" "c.590T>A" "r.(?)" "p.(Val197Glu)" "7" "0000081500" "00000696" "70" "549" "0" "549" "0" "c.549dup" "r.(?)" "p.(Gln184Serfs*23)" "7" "0000081502" "00000696" "70" "2035" "0" "2035" "0" "c.2035G>A" "r.(?)" "p.(Asp679Asn)" "21" "0000081518" "00000696" "90" "1579" "0" "1579" "0" "c.1579del" "r.(?)" "p.(Ile527Serfs*6)" "19" "0000081519" "00000696" "90" "0" "" "0" "" "c.(154+1::155-1)" "r.0" "p.0" "2i" "0000081520" "00000696" "90" "745" "0" "752" "0" "c.745_752dup" "r.745_752dup" "p.Lys251Asnfs*6" "9" "0000081521" "00000696" "90" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Gln62*)" "3" "0000223235" "00000696" "90" "1410" "0" "1420" "1" "c.1410_1420+1delinsA" "r.spl" "p.?" "" "0000237842" "00000696" "90" "1265" "0" "1265" "0" "c.1265del" "r.(?)" "p.(Asn422Metfs*28)" "" "0000252360" "00000696" "30" "1026" "-15" "1026" "-15" "c.1026-15T>A" "r.(=)" "p.(=)" "" "0000296680" "00000696" "30" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(Lys193=)" "" "0000296681" "00000696" "30" "902" "0" "902" "0" "c.902C>T" "r.(?)" "p.(Thr301Met)" "" "0000300524" "00000696" "30" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Ala45Thr)" "" "0000300525" "00000696" "10" "1421" "-131" "1421" "-131" "c.1421-131C>G" "r.(=)" "p.(=)" "" "0000300526" "00000696" "10" "1421" "-133" "1421" "-133" "c.1421-133C>G" "r.(=)" "p.(=)" "" "0000300527" "00000696" "10" "154" "69" "154" "69" "c.154+69A>C" "r.(=)" "p.(=)" "" "0000300528" "00000696" "30" "2029" "0" "2029" "0" "c.2029C>A" "r.(?)" "p.(Leu677Met)" "" "0000300529" "00000696" "30" "2056" "0" "2056" "0" "c.2056C>T" "r.(?)" "p.(Pro686Ser)" "" "0000300530" "00000696" "30" "702" "11" "702" "11" "c.702+11A>C" "r.(=)" "p.(=)" "" "0000300531" "00000696" "10" "832" "112" "832" "112" "c.832+112A>G" "r.(=)" "p.(=)" "" "0000300532" "00000696" "10" "832" "159" "832" "160" "c.832+159_832+160del" "r.(=)" "p.(=)" "" "0000300534" "00000696" "30" "902" "0" "902" "0" "c.902C>T" "r.(?)" "p.(Thr301Met)" "" "0000304787" "00000696" "50" "204" "0" "204" "0" "c.204G>T" "r.(?)" "p.(Gln68His)" "" "0000304788" "00000696" "50" "2222" "0" "2222" "0" "c.2222C>T" "r.(?)" "p.(Pro741Leu)" "" "0000304789" "00000696" "30" "2307" "0" "2307" "0" "c.2307G>A" "r.(?)" "p.(Gly769=)" "" "0000304790" "00000696" "50" "2363" "0" "2363" "0" "c.2363G>A" "r.(?)" "p.(Arg788Gln)" "" "0000304791" "00000696" "30" "902" "0" "902" "0" "c.902C>T" "r.(?)" "p.(Thr301Met)" "" "0000304792" "00000696" "30" "903" "0" "903" "0" "c.903G>A" "r.(?)" "p.(Thr301=)" "" "0000334464" "00000696" "30" "2029" "0" "2029" "0" "c.2029C>A" "r.(?)" "p.(Leu677Met)" "" "0000334466" "00000696" "50" "1184" "0" "1184" "0" "c.1184A>G" "r.(?)" "p.(Asn395Ser)" "" "0000334467" "00000696" "50" "1120" "0" "1120" "0" "c.1120A>G" "r.(?)" "p.(Ile374Val)" "" "0000334468" "00000696" "30" "902" "0" "902" "0" "c.902C>T" "r.(?)" "p.(Thr301Met)" "" "0000344935" "00000696" "50" "204" "0" "204" "0" "c.204G>C" "r.(?)" "p.(Gln68His)" "" "0000345189" "00000696" "70" "525" "0" "526" "0" "c.525_526insA" "r.(?)" "p.(Glu176ArgfsTer5)" "" "0000346274" "00000696" "50" "2383" "0" "2383" "0" "c.2383G>A" "r.(?)" "p.(Gly795Ser)" "" "0000346890" "00000696" "50" "37" "0" "37" "0" "c.37C>G" "r.(?)" "p.(Leu13Val)" "" "0000348043" "00000696" "50" "1270" "0" "1270" "0" "c.1270T>G" "r.(?)" "p.(Phe424Val)" "" "0000348526" "00000696" "50" "1856" "0" "1856" "0" "c.1856C>T" "r.(?)" "p.(Pro619Leu)" "" "0000349150" "00000696" "50" "2170" "0" "2170" "0" "c.2170A>G" "r.(?)" "p.(Ser724Gly)" "" "0000350791" "00000696" "30" "1497" "0" "1497" "0" "c.1497G>A" "r.(?)" "p.(Met499Ile)" "" "0000404702" "00000696" "70" "746" "0" "746" "0" "c.746T>C" "r.(?)" "p.(Leu249Pro)" "9" "0000408040" "00000696" "00" "251" "-2" "251" "-2" "c.251-2A>G" "r.spl?" "p.?" "" "0000408041" "00000696" "00" "1277" "0" "1834" "0" "c.1277_1834del" "r.(?)" "p.(Pro427_Asp612del)" "" "0000408086" "00000696" "00" "1508" "0" "1511" "0" "c.1508_1511del" "r.(?)" "p.(Leu503Glnfs*16)" "" "0000408087" "00000696" "00" "403" "0" "403" "0" "c.403G>T" "r.(?)" "p.(Glu135*)" "" "0000408095" "00000696" "00" "1585" "0" "1585" "0" "c.1585G>C" "r.(?)" "p.(Gly529Arg)" "" "0000408097" "00000696" "00" "1527" "-1" "1527" "-1" "c.1527-1G>A" "r.spl?" "p.?" "" "0000577043" "00000696" "30" "2363" "0" "2363" "0" "c.2363G>A" "r.(?)" "p.(Arg788Gln)" "" "0000577044" "00000696" "30" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788Trp)" "" "0000577046" "00000696" "30" "2029" "0" "2029" "0" "c.2029C>A" "r.(?)" "p.(Leu677Met)" "" "0000577047" "00000696" "70" "1262" "0" "1262" "0" "c.1262T>C" "r.(?)" "p.(Leu421Pro)" "" "0000577048" "00000696" "30" "1202" "-5" "1202" "-5" "c.1202-5A>G" "r.spl?" "p.?" "" "0000577049" "00000696" "50" "1184" "0" "1184" "0" "c.1184A>G" "r.(?)" "p.(Asn395Ser)" "" "0000577050" "00000696" "30" "1184" "0" "1184" "0" "c.1184A>G" "r.(?)" "p.(Asn395Ser)" "" "0000577051" "00000696" "50" "1134" "0" "1134" "0" "c.1134A>C" "r.(?)" "p.(Gln378His)" "" "0000577053" "00000696" "30" "885" "0" "885" "0" "c.885C>G" "r.(?)" "p.(Thr295=)" "" "0000577054" "00000696" "50" "855" "0" "855" "0" "c.855G>A" "r.(?)" "p.(Val285=)" "" "0000577055" "00000696" "30" "832" "16" "832" "16" "c.832+16G>A" "r.(=)" "p.(=)" "" "0000577056" "00000696" "90" "702" "2" "702" "2" "c.702+2T>C" "r.spl?" "p.?" "" "0000577058" "00000696" "50" "-5" "1" "-5" "1" "c.-5+1G>A" "r.spl?" "p.?" "" "0000619782" "00000696" "30" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788Trp)" "" "0000619783" "00000696" "50" "2134" "0" "2134" "0" "c.2134C>T" "r.(?)" "p.(Arg712Trp)" "" "0000619784" "00000696" "30" "1985" "0" "1985" "0" "c.1985T>C" "r.(?)" "p.(Leu662Ser)" "" "0000619785" "00000696" "30" "1857" "0" "1857" "0" "c.1857G>A" "r.(?)" "p.(Pro619=)" "" "0000619786" "00000696" "50" "1270" "0" "1270" "0" "c.1270T>G" "r.(?)" "p.(Phe424Val)" "" "0000619787" "00000696" "30" "1026" "-10" "1026" "-10" "c.1026-10T>C" "r.(=)" "p.(=)" "" "0000619788" "00000696" "30" "705" "0" "705" "0" "c.705A>C" "r.(?)" "p.(Thr235=)" "" "0000624690" "00000696" "50" "155" "-5" "155" "-5" "c.155-5T>C" "r.spl?" "p.?" "" "0000624691" "00000696" "30" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Ala45Thr)" "" "0000652940" "00000696" "10" "115" "0" "115" "0" "c.115G>A" "r.(?)" "p.(Val39Ile)" "" "0000659417" "00000696" "30" "1722" "0" "1722" "0" "c.1722G>A" "r.(?)" "p.(Pro574=)" "" "0000659418" "00000696" "30" "1699" "0" "1699" "0" "c.1699C>A" "r.(?)" "p.(Pro567Thr)" "" "0000659419" "00000696" "30" "237" "0" "237" "0" "c.237T>C" "r.(?)" "p.(Asp79=)" "" "0000670133" "00000696" "10" "115" "0" "115" "0" "c.115G>A" "r.(?)" "p.(Val39Ile)" "" "0000675061" "00000696" "50" "116" "0" "127" "0" "c.116_127del" "r.(?)" "p.(Val39_Asp42del)" "" "0000675066" "00000696" "50" "2129" "0" "2129" "0" "c.2129C>T" "r.(?)" "p.(Ala710Val)" "" "0000682583" "00000696" "50" "853" "0" "853" "0" "c.853G>A" "r.(?)" "p.(Val285Met)" "" "0000682584" "00000696" "50" "101" "0" "101" "0" "c.101A>G" "r.(?)" "p.(Lys34Arg)" "" "0000683331" "00000696" "70" "1138" "1" "1138" "1" "c.1138+1C>T" "r.spl" "p.?" "" "0000683332" "00000696" "70" "1489" "0" "1489" "0" "c.1489C>T" "r.(?)" "p.(Arg497*)" "" "0000693698" "00000696" "30" "2303" "0" "2303" "0" "c.2303C>T" "r.(?)" "p.(Ala768Val)" "" "0000729118" "00000696" "30" "2324" "10" "2324" "10" "c.2324+10G>T" "r.(=)" "p.(=)" "" "0000729119" "00000696" "30" "2056" "0" "2056" "0" "c.2056C>T" "r.(?)" "p.(Pro686Ser)" "" "0000729120" "00000696" "30" "1461" "0" "1461" "0" "c.1461C>T" "r.(?)" "p.(Ser487=)" "" "0000729121" "00000696" "50" "1286" "0" "1286" "0" "c.1286G>A" "r.(?)" "p.(Cys429Tyr)" "" "0000729122" "00000696" "50" "1183" "0" "1183" "0" "c.1183A>G" "r.(?)" "p.(Asn395Asp)" "" "0000729123" "00000696" "50" "19" "0" "19" "0" "c.19G>A" "r.(?)" "p.(Glu7Lys)" "" "0000729124" "00000696" "30" "12" "0" "12" "0" "c.12C>G" "r.(?)" "p.(Pro4=)" "" "0000763201" "00000696" "70" "638" "0" "638" "0" "c.638T>C" "r.(?)" "p.(Leu213Pro)" "" "0000787344" "00000696" "50" "1682" "0" "1682" "0" "c.1682G>A" "r.(?)" "p.(Gly561Asp)" "19" "0000795669" "00000696" "70" "4" "0" "4" "0" "c.4G>C" "r.(?)" "p.(Gly2Arg)" "" "0000810594" "00000696" "30" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788Trp)" "" "0000810595" "00000696" "30" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(Asp723Gly)" "" "0000810596" "00000696" "30" "1139" "-17" "1139" "-17" "c.1139-17dup" "r.(=)" "p.(=)" "" "0000824306" "00000696" "90" "487" "-359" "1276" "332" "c.487-359_1276+332dup" "r.?" "p.?" "" "0000824560" "00000696" "70" "487" "-358" "1276" "333" "c.487-358_1276+333dup" "r.?" "p.?" "" "0000856737" "00000696" "30" "21" "0" "21" "0" "c.21G>A" "r.(?)" "p.(Glu7=)" "" "0000867509" "00000696" "50" "595" "0" "595" "0" "c.595C>G" "r.(?)" "p.(Pro199Ala)" "" "0000869062" "00000696" "70" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Arg409His)" "" "0000896327" "00000696" "50" "257" "0" "257" "0" "c.257C>A" "r.(?)" "p.(Ser86Tyr)" "" "0000896328" "00000696" "90" "207" "0" "208" "0" "c.207_208insA" "r.(?)" "p.(Asp70Argfs*9)" "" "0000908861" "00000696" "70" "702" "4" "702" "4" "c.702+4A>G" "r.598_702del" "p.Val200_Asn234del" "" "0000908902" "00000696" "70" "1202" "-1" "1202" "-1" "c.1202-1G>A" "r.[1202_1276del,1105_1276del,1202del]" "p.[Gly401_Phe425del,Tyr370Leufs*23,Ile402Serfs*20]" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 50 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001986" "0000000209" "0000003020" "0000000209" "0000003021" "0000000209" "0000007041" "0000000209" "0000007042" "0000000209" "0000007043" "0000000209" "0000007044" "0000000210" "0000009129" "0000000210" "0000009130" "0000000210" "0000009131" "0000000210" "0000009132" "0000000210" "0000011016" "0000000210" "0000011017" "0000000210" "0000015015" "0000000210" "0000015017" "0000016935" "0000036928" "0000016936" "0000036929" "0000016937" "0000036930" "0000016938" "0000036931" "0000016995" "0000036932" "0000052057" "0000081497" "0000052060" "0000081500" "0000052061" "0000081502" "0000052078" "0000081518" "0000052079" "0000081519" "0000052080" "0000081520" "0000052081" "0000081521" "0000133807" "0000223235" "0000145470" "0000237842" "0000181066" "0000404702" "0000184071" "0000408040" "0000184072" "0000408041" "0000184117" "0000408086" "0000184118" "0000408087" "0000184126" "0000408095" "0000184128" "0000408097" "0000296251" "0000652940" "0000306445" "0000670133" "0000308208" "0000675061" "0000308209" "0000675066" "0000308897" "0000683331" "0000308898" "0000683332" "0000362827" "0000763201" "0000375993" "0000787344" "0000382035" "0000795669" "0000393536" "0000824306" "0000393759" "0000824560" "0000411825" "0000869062" "0000429388" "0000908861" "0000429429" "0000908902"