### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ROGDI) # 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}}" "ROGDI" "rogdi homolog (Drosophila)" "16" "p13.3" "unknown" "NG_032174.1" "UD_132439274344" "" "https://www.LOVD.nl/ROGDI" "Infromed Constent before genetic testing " "1" "29478" "79641" "614574" "1" "1" "1" "1" "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/ROGDI_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2012-04-27 00:00:00" "00006" "2017-07-04 23:15:24" "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}}" "00000220" "ROGDI" "rogdi homolog (Drosophila)" "001" "NM_024589.1" "" "NP_078865.1" "" "" "" "-102" "1356" "864" "4852674" "4846969" "00002" "2012-06-11 12:21:13" "" "" ## 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}}" "00004" "KTZS" "Kohlschutter-Tonz syndrome" "AR" "226750" "" "" "" "00002" "2012-05-23 08:55:16" "00006" "2021-12-10 21:51:32" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ROGDI" "00004" "ROGDI" "00139" ## Individuals ## Do not remove or alter this header ## ## Count = 33 "{{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}}" "00001656" "" "" "" "1" "" "00108" "{PMID:Schossig 2012:22424600}" "sibling: Fam. A-IV:3, two unaffected siblings" "F" "yes" "" "" "0" "" "" "Africa, Northern" "" "00001657" "" "" "" "1" "" "00108" "{PMID:Schossig 2012:22424600}" "sibling: Fam. A-IV:4, two unaffected siblings" "M" "yes" "" "" "0" "" "" "Africa, Northern" "" "00001658" "" "" "" "1" "" "00108" "{PMID:Schossig 2012:22424600}" "no known consanguinity of parents, unaffected brother" "M" "no" "" "" "0" "" "" "East Tyrol" "" "00001659" "" "" "" "1" "" "00108" "{PMID:Schossig 2012:22424600}" "parents distantly related, unaffected sibling" "F" "yes" "Switzerland" "" "0" "" "" "" "" "00001660" "" "" "" "1" "" "00025" "{PMID:Mory 2012:22482807}" "no known consanguinity of parents, affected siblings: Fam.AM 1-II:6 and 1-II:7, 5 unaffected siblings" "F" "no" "Israel" "" "" "" "" "Northern, Druze" "" "00001661" "" "" "" "1" "" "00025" "{PMID:Mory 2012:22482807}" "no known consanguinity of parents, affected siblings: Fam.AM 1-II:1 and 1-II:7, 5 unaffected siblings" "F" "no" "Israel" "" "" "" "" "Northern, Druze" "" "00001662" "" "" "" "1" "" "00025" "{PMID:Mory 2012:22482807}" "no known consanguinity of parents, affected siblings: Fam.AM 1-II:1 and 1-II:6, 5 unaffected siblings" "M" "no" "Israel" "" "" "" "" "Northern, Druze" "" "00001663" "" "" "" "1" "" "00025" "{PMID:Mory 2012:22482807}" "siblings: Fam.AM 2-IV:2 and Fam.AM 2-IV:4, three unaffected siblings" "F" "yes" "Israel" "" "" "" "" "Northern, Druze" "" "00001664" "" "" "" "1" "" "00025" "{PMID:Mory 2012:22482807}" "siblings: Fam.AM 2-IV:1 and Fam.AM 2-IV:4, three unaffected siblings" "M" "yes" "Israel" "" "" "" "" "Northern, Druze" "" "00001665" "" "" "" "1" "" "00025" "{PMID:Mory 2012:22482807}" "siblings: Fam.AM 2-IV:1 and Fam.AM 2-IV:2, three unaffected siblings" "M" "yes" "Israel" "" "" "" "" "Northern, Druze" "" "00001666" "" "" "" "1" "" "00025" "{PMID:Mory 2012:22482807}" "sibling: Fam.AM 3-V:3, one unaffected sibling, related to Fam.AM 4 and Fam.AM 5" "M" "yes" "Israel" "" "" "" "" "Northern, Druze" "" "00001667" "" "" "" "1" "" "00025" "{PMID:Mory 2012:22482807}" "sibling: Fam.AM 3-V:1, one unaffected sibling, related to Fam.AM 4 and Fam.AM 5" "F" "yes" "Israel" "" "" "" "" "Northern, Druze" "" "00001668" "" "" "" "1" "" "00025" "{PMID:Mory 2012:22482807}" "siblings: Fam.AM 4-V:5, 4-V:6, 4-V:7, 4-V:8, two unaffected siblings, related to Fam.AM 3 and Fam.AM 5" "F" "no" "Israel" "02y" "" "" "" "Northern, Druze" "" "00001669" "" "" "" "1" "" "00025" "{PMID:Mory 2012:22482807}" "siblings: Fam.AM 4-V:5, 4-V:6, 4-V:7, 4-V:8, two unaffected siblings, related to Fam.AM 3 and Fam.AM 5" "M" "no" "Israel" "" "" "" "" "Northern, Druze" "" "00001670" "" "" "" "1" "" "00025" "{PMID:Mory 2012:22482807}" "siblings: Fam.AM 4-V:5, 4-V:6, 4-V:7, 4-V:8, two unaffected siblings, related to Fam.AM 3 and Fam.AM 5" "F" "no" "Israel" "" "" "" "" "Northern, Druze" "" "00001671" "" "" "" "1" "" "00025" "{PMID:Mory 2012:22482807}" "siblings: Fam.AM 4-V:5, 4-V:6, 4-V:7, 4-V:8, two unaffected siblings, related to Fam.AM 3 and Fam.AM 5" "F" "no" "Israel" "" "" "" "" "Northern, Druze" "" "00001672" "" "" "" "1" "" "00025" "{PMID:Mory 2012:22482807}" "siblings: Fam.AM 4-V:5, 4-V:6, 4-V:7, 4-V:8, two unaffected siblings, related to Fam.AM 3 and Fam.AM 5" "M" "no" "Israel" "" "" "" "" "Northern, Druze" "" "00001673" "" "" "" "1" "" "00025" "{PMID:Mory 2012:22482807}" "one unaffected sibling, related to Fam.AM 3 and Fam.AM 4" "M" "yes" "Israel" "" "" "" "" "Northern, Druze" "" "00001674" "" "" "" "1" "" "00025" "{PMID:Tucci 2012:23086778}" "" "M" "no" "Germany" "" "" "" "" "" "" "00001675" "" "" "" "1" "" "00025" "{PMID:Tucci 2012:23086778}, {PMID:Christodoulou 1988:3236364}" "parents not knowingly related, two living affected siblings (Tucci Fam A-II:3, -II:4), one unaffected sibling" "M" "no" "Italy" "" "" "" "" "Sicily" "" "00001676" "" "" "" "1" "" "00025" "{PMID:Tucci 2012:23086778}, {PMID:Christodoulou 1988:3236364}" "parents not knowingly related, two living affected siblings (Tucci Fam A-II:2, -II:3), one unaffected sibling" "M" "no" "Italy" "" "" "" "" "Sicily" "" "00001677" "" "" "" "1" "" "00025" "{PMID:Tucci 2012:23086778}, {PMID:Christodoulou 1988:3236364}" "parents not knowingly related, two living affected siblings (Tucci Fam A-II:2, -II:4), one unaffected sibling" "F" "no" "Italy" "" "" "" "" "Sicily" "" "00001678" "" "" "" "1" "" "00025" "{PMID:Tucci 2012:23086778}, {PMID:Schossig 2012:22522085}" "two healthy siblings" "M" "no" "Germany" "" "" "" "" "" "" "00001679" "" "" "" "1" "" "00025" "{PMID:Tucci 2012:23086778}, {PMID:Petermöller 1993:8133980}" "one affected sibling (Tucci Fam D-II:2), one unaffected sibling" "M" "no" "Germany" "" "" "" "" "" "" "00001680" "" "" "" "1" "" "00025" "{PMID:Tucci 2012:23086778}, {PMID:Petermöller 1993:8133980}" "one affected sibling (Tucci Fam D-II:1), one unaffected sibling" "F" "no" "Germany" "" "" "" "" "" "" "00001681" "" "" "" "1" "" "00025" "{PMID:Tucci 2012:23086778}, {PMID:Musumeci 1994:7625549}" "one affected sibling (Tucci FamC-II:2)" "F" "yes" "Italy" "" "" "" "" "Sicily" "" "00001682" "" "" "" "1" "" "00025" "{PMID:Tucci 2012:23086778}, {PMID:Musumeci 1994:7625549}" "one affected sibling (Tucci FamC-II:1)" "M" "yes" "Italy" "" "" "" "" "Sicily" "" "00047286" "" "" "" "1" "" "00108" "" "sibling of IBK 12D2119" "F" "yes" "Turkey" "" "0" "" "" "" "" "00047287" "" "" "" "1" "" "00108" "{PMID:Schossig 2012:22424600}" "no siblings" "F" "no" "Austria" "" "0" "" "" "East Tyrol" "" "00047288" "" "" "" "1" "" "00108" "" "" "M" "?" "" "" "0" "" "" "" "" "00047289" "" "" "" "1" "" "00108" "{PMID:Tucci 2012:23086778}" "" "F" "no" "France" "" "0" "" "" "" "" "00291473" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00374561" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "R-0536" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 33 "{{individualid}}" "{{diseaseid}}" "00001656" "00004" "00001657" "00004" "00001658" "00004" "00001659" "00004" "00001660" "00004" "00001661" "00004" "00001662" "00004" "00001663" "00004" "00001664" "00004" "00001665" "00004" "00001666" "00004" "00001667" "00004" "00001668" "00004" "00001669" "00004" "00001670" "00004" "00001671" "00004" "00001672" "00004" "00001673" "00004" "00001674" "00004" "00001675" "00004" "00001676" "00004" "00001677" "00004" "00001678" "00004" "00001679" "00004" "00001680" "00004" "00001681" "00004" "00001682" "00004" "00047286" "00004" "00047287" "00004" "00047288" "00004" "00047289" "00004" "00291473" "00198" "00374561" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00004, 00139, 00198 ## Count = 33 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{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}}" "0000000810" "00004" "00001656" "00108" "Familial" "09y" "developmental delay since birth, pregnancy: gestational diabetes and uneventful birth, walking without support at age 2.2 years; normal at age 9y; MRI-brain slight atrophy of cerebellar vermis; speech some simple words, deterioration of social interaction after onset of seizures.; 14m-eruption primary teeth, lusterless, rapid discoloration after eruption" "" "" "" "" "" "" "" "" "" "" "" "0000000811" "00004" "00001657" "00108" "Familial" "12y" "initial development normal, pregnancy: gestational diabetes, birth: cesarean section (breech presentation), newborn period uneventful, sit and walk with support at age 18 months and 4.5 years; 12y mild microcephaly; MRI-brain temporal delayed myelination; no expressive language, loss of visual fixation after onset of seizures; 13m-eruption of primary teeth, brownish discoloration from the beginning, small teeth," "" "" "" "" "" "" "" "" "" "" "" "0000000812" "00004" "00001658" "00108" "Familial" "18y" "initial development normal, uneventful pregnancy, birth, and newborn period, sit and walk without support at age 9-10 months and 30 months; normal at age 18y, MRI-brain atrophy, hypoplasia of cerebellar vermis; feeds himself, fine motor problems; talks in two-word sentences, friendly behaviour; primary and secondary teeth: brownish discoloration, rough surface" "" "" "" "" "" "" "" "" "" "" "" "0000000813" "00004" "00001659" "00108" "Familial" "09y" "initial development normal, uneventful pregnancy, birth, and newborn period, walking without support at age 2 years; normal at age 9y; MRI brain normal; feeds herself, fine motor problems; talks in simple sentences, friendly behaviour; primary and secondary teeth: yellowish discoloration, rough surface" "" "" "" "" "" "" "" "" "" "" "" "0000000814" "00004" "00001660" "00025" "Familial" "6y" "uneventful pregnancy, birth, and newborn period, severe intellectual impairment; MRI-brain dilation of cerebellar sulci and third and lateral ventricles; ambulant; no expressive language; amelogenesis imperfecta" "" "" "" "" "" "" "" "" "" "" "" "0000000815" "00004" "00001661" "00025" "Familial" "24y" "uneventful pregnancy, birth, and newborn period, profound intellectual impairment; MRI-brain dilation of cerebellar sulci and third and lateral ventricles; not ambulant; no expressive language; amelogenesis imperfecta" "" "" "" "" "" "" "" "" "" "" "" "0000000816" "00004" "00001662" "00025" "Familial" "16y" "uneventful pregnancy, birth, and newborn period, severe intellectual impairment; MRI-brain dilation of cerebellar sulci and third and lateral ventricles; ambulant; no expressive language; amelogenesis imperfecta" "" "" "" "" "" "" "" "" "" "" "" "0000000817" "00004" "00001663" "00025" "Familial" "15y6m" "uneventful pregnancy, birth, and newborn period, severe intellectual impairment; ambulant; no expressive language; amelogenesis imperfecta" "" "" "" "" "" "" "" "" "" "" "" "0000000818" "00004" "00001664" "00025" "Familial" "16y6m" "uneventful pregnancy and birth; developmental delay since birth: newborn period: muscular hypotonia, poor sucking, severe intellectual impairment; MRI brain normal; ambulant; no expressive language; amelogenesis imperfecta" "" "" "" "" "" "" "" "" "" "" "" "0000000819" "00004" "00001665" "00025" "Familial" "13y6m" "initial development normal until seizure onset, uneventful pregnancy, birth, and newborn period, moderate intellectual impairment; ambulant; mumbling speech; amelogenesis imperfecta" "" "" "" "" "" "" "" "" "" "" "" "0000000820" "00004" "00001666" "00025" "Familial" "14y6m" "uneventful pregnancy and newborn period, birth by cesarean section, severe intellectual impairment; not ambulant; no expressive language; amelogenesis imperfecta" "" "" "" "" "" "" "" "" "" "" "" "0000000821" "00004" "00001667" "00025" "Familial" "16y6m" "uneventful pregnancy and newborn period, birth by cesarean section, moderate intellectual impairment; ambulant; mumbling speech; amelogenesis imperfecta" "" "" "" "" "" "" "" "" "" "" "" "0000000822" "00004" "00001668" "00025" "Familial" "" "uneventful pregnancy and birth; vegetative and seizures since birth, failure to thrive; microcephaly" "" "" "" "" "" "" "" "" "" "" "" "0000000823" "00004" "00001669" "00025" "Familial" "16y6m" "uneventful pregnancy and birth, impaired psychomotor development from 6 months of age, severe intellectual impairment; MRI-brain dilation of cerebellar sulci and third and lateral ventricles; ambulant; no expressive language; amelogenesis imperfecta" "" "" "" "" "" "" "" "" "" "" "" "0000000824" "00004" "00001670" "00025" "Familial" "19y6m" "uneventful pregnancy and birth, impaired psychomotor development from the first months of life, profound intellectual impairment; not ambulant; no expressive language; amelogenesis imperfecta" "" "" "" "" "" "" "" "" "" "" "" "0000000825" "00004" "00001671" "00025" "Familial" "15y" "uneventful pregnancy, birth, and newborn period, moderate intellectual impairment; ambulant; mumbling speech, utters a few words; amelogenesis imperfecta" "" "" "" "" "" "" "" "" "" "" "" "0000000826" "00004" "00001672" "00025" "Familial" "3y6m" "uneventful pregnancy, birth, and newborn period, severe intellectual impairment, hyperactivity; MRI brain normal; ambulant; no expressive language; amelogenesis imperfecta" "" "" "" "" "" "" "" "" "" "" "" "0000000827" "00004" "00001673" "00025" "Familial" "14y6m" "uneventful pregnancy, birth, and newborn period, severe intellectual impairment; MRI brain normal; ambulant; no expressive language; amelogenesis imperfecta" "" "" "" "" "" "" "" "" "" "" "" "0000000828" "00004" "00001674" "00025" "Familial" "2y6m" "uneventful pregnancy, birth, and newborn period, normal psychomotor development until onset of seizures, severe psychomotor delay after seizure onset; 2.5y small stature (-2,3 SD), microcephaly; admin; yellow teeth" "" "" "" "" "" "" "" "" "" "" "" "0000000829" "00004" "00001675" "00025" "Familial" "" "normal development until seizure onset,psychomotor regression after age 18 months, severe intellectual disability; admin;; amelogenesis imperfecta, hypoplastic rough teeth, yellow teeth" "" "" "" "" "" "" "" "" "" "" "" "0000000830" "00004" "00001676" "00025" "Familial" "" "normal development until seizure onset, psychomotor regression after age 7 months, severe intellectual disability; admin;; amelogenesis imperfecta, hypoplastic rough teeth, yellow teeth" "" "" "" "" "" "" "" "" "" "" "" "0000000831" "00004" "00001677" "00025" "Familial" "" "normal development until seizure onset, psychomotor regression after age 22 months, severe intellectual disability; admin;; amelogenesis imperfecta, hypoplastic rough teeth, yellow teeth" "" "" "" "" "" "" "" "" "" "" "" "0000000832" "00004" "00001678" "00025" "Familial" "8y" "uneventful pregnancy, birth, and newborn period, normal psychomotor development until onset of seizures, stagnation and thereafter slow progression of psychomotor development after seizure onset; 8y body weight and length significantly below 3rd percentile, head circumference: 25th percentile; MRI-brain 9y mild atrophy of the cerebellar vermis; lost ability to walk after development of spasticity, no conscious grasping; no active language; brownish discoloration of teeth, amelogenesis imperfecta" "" "" "" "" "" "" "" "" "" "" "" "0000000833" "00004" "00001679" "00025" "Familial" "" "uneventful pregnancy, birth, and newborn period, delayed psychomotor development from the beginning, severe psychomotor disability; MRI-brain slight ventricular enlargement; no active language; yellow teeth, prone to crumble" "" "" "" "" "" "" "" "" "" "" "" "0000000834" "00004" "00001680" "00025" "Familial" "" "uneventful pregnancy, birth, and newborn period, normal psychomotor development until onset of seizures, psychomotor regression after age 13 months; admin; MRI brain normal; total loss of speech and social contact; yellow teeth, prone to crumble" "" "" "" "" "" "" "" "" "" "" "" "0000000835" "00004" "00001681" "00025" "Familial" "" "uneventful pregnancy, birth, and newborn period, delayed psychomotor development since age 2 months, severe psychomotor disability; broad thumbs and toes; MRI-brain hypoplasia of cerebellar vermis, asymmetric dilatation of lateral ventricles; no active language; yellow teeth, hypoplastic enamel on dental radiographs" "" "" "" "" "" "" "" "" "" "" "" "0000000836" "00004" "00001682" "00025" "Familial" "4y6m" "uneventful pregnancy, birth, and newborn period, delayed psychomotor development from the beginning, slow development after seizure onset, severe psychomotor disability; 4.5y microcephaly; broad thumbs and toes; MRI-brain enlargement of lateral ventricles; no active language; yellow teeth" "" "" "" "" "" "" "" "" "" "" "" "0000034648" "00004" "00047286" "00108" "Familial, autosomal recessive" "" "intellectual disability, motor developmental delay, seizures starting at age 7 months, yellow teeth; yellow-brown teeth" "00y07m" "" "" "" "" "" "" "" "" "" "" "0000034649" "00004" "00047287" "00108" "Familial, autosomal recessive" "07y" "seizures; sitting; no speech (HP:0001344); amelogenesis imperfecta, yellow teeth, soft enamel & dentin, prone to crumble, sensitivity, late eruption" "00y08m" "" "" "" "" "" "" "" "" "" "" "0000034650" "00004" "00047286" "00108" "Familial, autosomal recessive" "13y" "unremarkable prenatal history, normal birth parameters, motor and cognitive developmental delay, normal head circumference, strabism, seizures; MRI brain cerebellar atrophy (HP:0001272); amelogenesis imperfecta, yellow-brown teeth" "01y" "" "" "" "" "" "" "" "" "" "" "0000034651" "00004" "00047288" "00108" "Familial, autosomal recessive" "07y" "" "" "" "" "" "" "" "" "" "" "" "" "0000034652" "00004" "00047289" "00108" "Familial, autosomal recessive" "25y" "schizophrenia; amlogenesis imperfecta, yellow-brownish teeth, normal sized" "" "" "" "" "" "" "" "" "" "" "" "0000269771" "00198" "00374561" "00006" "Familial, autosomal recessive" "" "recurrent seizures, lethargy, choreic movements and regression in milestones" "" "" "" "" "" "" "" "" "" "leukodystrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 33 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000001458" "00001656" "1" "00108" "00006" "2012-05-16 15:55:13" "00006" "2013-08-11 22:39:09" "SEQ" "DNA" "" "" "0000001459" "00001657" "1" "00108" "00006" "2012-05-16 15:57:38" "00006" "2013-08-11 22:40:44" "SEQ" "DNA" "" "" "0000001460" "00001658" "1" "00108" "00006" "2012-05-16 15:59:34" "00006" "2013-08-11 22:36:32" "SEQ" "DNA" "" "" "0000001461" "00001659" "1" "00108" "00006" "2012-05-16 16:08:30" "00006" "2013-08-11 22:42:10" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000001462" "00001660" "1" "00025" "00006" "2012-07-03 17:04:34" "00025" "2012-10-23 10:42:12" "SEQ" "DNA" "" "" "0000001463" "00001661" "1" "00025" "00006" "2012-07-03 17:12:52" "00025" "2012-10-23 10:49:19" "SEQ" "DNA" "" "" "0000001464" "00001662" "1" "00025" "00006" "2012-07-03 17:23:15" "00025" "2012-10-23 10:50:09" "SEQ" "DNA" "" "" "0000001465" "00001663" "1" "00025" "00006" "2012-07-04 09:40:35" "00025" "2012-10-23 10:42:12" "SEQ" "DNA" "" "" "0000001466" "00001664" "1" "00025" "00006" "2012-07-04 09:48:48" "00025" "2012-10-23 10:50:56" "SEQ" "DNA" "" "" "0000001467" "00001665" "1" "00025" "00006" "2012-07-04 09:56:20" "00025" "2012-10-23 10:42:12" "SEQ" "DNA" "" "" "0000001468" "00001666" "1" "00025" "00006" "2012-07-04 10:05:46" "00025" "2012-10-23 10:42:12" "SEQ" "DNA" "" "" "0000001469" "00001667" "1" "00025" "00006" "2012-07-04 10:10:10" "00025" "2012-10-23 10:42:12" "SEQ" "DNA" "" "" "0000001470" "00001668" "1" "00025" "00006" "2012-07-04 10:21:07" "00025" "2012-10-23 10:51:55" "SEQ" "DNA" "" "" "0000001471" "00001669" "1" "00025" "00006" "2012-07-04 10:29:44" "00025" "2012-10-23 10:40:59" "SEQ" "DNA" "" "" "0000001472" "00001670" "1" "00025" "00006" "2012-07-04 10:41:41" "00025" "2012-10-23 10:42:53" "SEQ" "DNA" "" "" "0000001473" "00001671" "1" "00025" "00006" "2012-07-04 10:47:01" "00025" "2012-10-23 10:44:51" "SEQ" "DNA" "" "" "0000001474" "00001672" "1" "00025" "00006" "2012-07-04 10:52:02" "00025" "2012-10-23 10:46:24" "SEQ" "DNA" "" "" "0000001475" "00001673" "1" "00025" "00006" "2012-07-04 10:57:35" "00025" "2012-10-23 10:47:38" "SEQ" "DNA" "" "" "0000001476" "00001674" "1" "00025" "00006" "2012-10-23 11:16:07" "00025" "2013-05-06 14:02:19" "SEQ" "DNA" "" "" "0000001477" "00001675" "1" "00025" "00006" "2012-10-23 11:53:21" "00025" "2013-05-06 14:06:50" "SEQ" "DNA" "" "" "0000001478" "00001676" "1" "00025" "00006" "2012-10-23 13:20:06" "00025" "2013-05-06 14:10:00" "SEQ" "DNA" "" "" "0000001479" "00001677" "1" "00025" "00006" "2012-10-23 13:23:43" "00025" "2013-05-06 14:15:53" "SEQ" "DNA" "" "" "0000001480" "00001678" "1" "00025" "00006" "2012-10-23 14:54:23" "00025" "2013-05-06 13:37:44" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000001481" "00001679" "1" "00025" "00006" "2012-10-23 15:22:54" "00025" "2013-05-06 13:40:19" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000001482" "00001680" "1" "00025" "00006" "2012-10-23 15:34:36" "00025" "2013-05-06 13:43:09" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000001483" "00001681" "1" "00025" "00006" "2012-10-23 16:00:56" "00025" "2013-05-06 13:44:46" "PCR;SEQ" "DNA" "" "" "0000001484" "00001682" "1" "00025" "00006" "2012-10-23 16:14:50" "00025" "2013-05-06 13:54:48" "PCR;SEQ" "DNA" "" "" "0000047385" "00047286" "1" "00108" "00108" "2015-08-11 15:04:20" "" "" "SEQ" "DNA" "peripheral blood" "" "0000047386" "00047287" "1" "00108" "00108" "2015-08-11 15:31:11" "" "" "SEQ" "DNA" "peripheral blood" "" "0000047388" "00047288" "1" "00108" "00108" "2015-08-12 15:23:02" "" "" "SEQ" "DNA" "peripheral blood" "" "0000047389" "00047289" "1" "00108" "00108" "2015-08-12 15:37:24" "" "" "SEQ" "DNA" "peripheral blood" "" "0000292641" "00291473" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000375755" "00374561" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{geneid}}" "0000001458" "ROGDI" "0000001459" "ROGDI" "0000001460" "ROGDI" "0000001461" "ROGDI" "0000001462" "ROGDI" "0000001463" "ROGDI" "0000001464" "ROGDI" "0000001465" "ROGDI" "0000001466" "ROGDI" "0000001467" "ROGDI" "0000001468" "ROGDI" "0000001469" "ROGDI" "0000001470" "ROGDI" "0000001471" "ROGDI" "0000001472" "ROGDI" "0000001473" "ROGDI" "0000001474" "ROGDI" "0000001475" "ROGDI" "0000001476" "ROGDI" "0000001477" "ROGDI" "0000001478" "ROGDI" "0000001479" "ROGDI" "0000001480" "ROGDI" "0000001481" "ROGDI" "0000001482" "ROGDI" "0000001483" "ROGDI" "0000001484" "ROGDI" "0000047385" "ROGDI" "0000047386" "ROGDI" "0000047388" "ROGDI" "0000047389" "ROGDI" "0000375755" "ROGDI" ## 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 = 71 "{{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}}" "0000019257" "3" "99" "16" "4851295" "4851296" "del" "0" "00108" "ROGDI_000001" "g.4851295_4851296del" "" "{PMID:Schossig et al. 2012:22424600}" "" "" "" "Unknown" "" "" "0" "" "" "g.4801294_4801295del" "" "pathogenic (recessive)" "" "0000019259" "3" "99" "16" "4851295" "4851296" "del" "0" "00108" "ROGDI_000001" "g.4851295_4851296del" "" "{PMID:Schossig et al. 2012:22424600}" "" "" "" "Unknown" "" "" "0" "" "" "g.4801294_4801295del" "" "pathogenic (recessive)" "" "0000019261" "3" "99" "16" "4850549" "4850549" "subst" "0" "00108" "ROGDI_000002" "g.4850549G>A" "" "{PMID:Schossig et al. 2012:22424600}" "" "" "" "Unknown" "" "" "0" "" "" "g.4800548G>A" "" "pathogenic (recessive)" "" "0000019263" "11" "99" "16" "4848565" "4848565" "subst" "0" "00108" "ROGDI_000003" "g.4848565C>G" "" "{PMID:Schossig et al. 2012:22424600}" "" "" "" "Unknown" "" "" "0" "" "" "g.4798564C>G" "" "pathogenic (recessive)" "" "0000019264" "21" "99" "16" "4848187" "4848187" "subst" "0" "00108" "ROGDI_000004" "g.4848187T>A" "" "{PMID:Schossig et al. 2012:22424600}" "" "" "" "Unknown" "" "" "0" "" "" "g.4798186T>A" "" "pathogenic (recessive)" "" "0000019265" "3" "99" "16" "4848632" "4848632" "subst" "0" "00025" "ROGDI_000005" "g.4848632G>A" "" "{PMID:Mory et al. 2012:22482807}" "" "" "" "Unknown" "" "" "" "" "" "g.4798631G>A" "" "pathogenic (recessive)" "" "0000019267" "3" "99" "16" "4848632" "4848632" "subst" "0" "00025" "ROGDI_000005" "g.4848632G>A" "" "{PMID:Mory et al. 2012:22482807}" "" "" "" "Unknown" "" "" "" "" "" "g.4798631G>A" "" "pathogenic (recessive)" "" "0000019269" "3" "99" "16" "4848632" "4848632" "subst" "0" "00025" "ROGDI_000005" "g.4848632G>A" "" "{PMID:Mory et al. 2012:22482807}" "" "" "" "Unknown" "" "" "" "" "" "g.4798631G>A" "" "pathogenic (recessive)" "" "0000019271" "3" "99" "16" "4848632" "4848632" "subst" "0" "00025" "ROGDI_000005" "g.4848632G>A" "" "{PMID:Mory et al. 2012:22482807}" "" "" "" "Unknown" "" "" "" "" "" "g.4798631G>A" "" "pathogenic (recessive)" "" "0000019273" "3" "99" "16" "4848632" "4848632" "subst" "0" "00025" "ROGDI_000005" "g.4848632G>A" "" "{PMID:Mory et al. 2012:22482807}" "" "" "" "Unknown" "" "" "" "" "" "g.4798631G>A" "" "pathogenic (recessive)" "" "0000019275" "3" "99" "16" "4848632" "4848632" "subst" "0" "00025" "ROGDI_000005" "g.4848632G>A" "" "{PMID:Mory et al. 2012:22482807}" "" "" "" "Unknown" "" "" "" "" "" "g.4798631G>A" "" "pathogenic (recessive)" "" "0000019277" "3" "99" "16" "4848632" "4848632" "subst" "0" "00025" "ROGDI_000005" "g.4848632G>A" "" "{PMID:Mory et al. 2012:22482807}" "" "" "" "Unknown" "" "" "" "" "" "g.4798631G>A" "" "pathogenic (recessive)" "" "0000019279" "3" "99" "16" "4848632" "4848632" "subst" "0" "00025" "ROGDI_000005" "g.4848632G>A" "" "{PMID:Mory et al. 2012:22482807}" "" "" "" "Unknown" "" "" "" "" "" "g.4798631G>A" "" "pathogenic (recessive)" "" "0000019281" "3" "99" "16" "4848632" "4848632" "subst" "0" "00025" "ROGDI_000005" "g.4848632G>A" "" "{PMID:Mory et al. 2012:22482807}" "" "" "" "Unknown" "" "" "" "" "" "g.4798631G>A" "" "pathogenic (recessive)" "" "0000019283" "3" "99" "16" "4848632" "4848632" "subst" "0" "00025" "ROGDI_000005" "g.4848632G>A" "" "{PMID:Mory et al. 2012:22482807}" "" "" "" "Unknown" "" "" "" "" "" "g.4798631G>A" "" "pathogenic (recessive)" "" "0000019285" "3" "99" "16" "4848632" "4848632" "subst" "0" "00025" "ROGDI_000005" "g.4848632G>A" "" "{PMID:Mory et al. 2012:22482807}" "" "" "" "Unknown" "" "" "" "" "" "g.4798631G>A" "" "pathogenic (recessive)" "" "0000019287" "3" "99" "16" "4848632" "4848632" "subst" "0" "00025" "ROGDI_000005" "g.4848632G>A" "" "{PMID:Mory et al. 2012:22482807}" "" "" "" "Unknown" "" "" "" "" "" "g.4798631G>A" "" "pathogenic (recessive)" "" "0000019289" "3" "99" "16" "4848632" "4848632" "subst" "0" "00025" "ROGDI_000005" "g.4848632G>A" "" "{PMID:Mory et al. 2012:22482807}" "" "" "" "Unknown" "" "" "" "" "" "g.4798631G>A" "" "pathogenic (recessive)" "" "0000019291" "3" "99" "16" "4848632" "4848632" "subst" "0" "00025" "ROGDI_000005" "g.4848632G>A" "" "{PMID:Mory et al. 2012:22482807}" "" "" "" "Unknown" "" "" "" "" "" "g.4798631G>A" "" "pathogenic (recessive)" "" "0000019293" "3" "99" "16" "4848597" "4848597" "del" "0" "00025" "ROGDI_000006" "g.4848597del" "" "{PMID:Tucci et al. 2012:23086778}" "" "" "" "Unknown" "" "" "" "" "" "g.4798596del" "" "pathogenic (recessive)" "" "0000019295" "3" "99" "16" "4848597" "4848597" "del" "0" "00025" "ROGDI_000006" "g.4848597del" "" "{PMID:Tucci et al. 2012:23086778}" "" "" "" "Unknown" "" "" "" "" "" "g.4798596del" "" "pathogenic (recessive)" "" "0000019297" "3" "99" "16" "4848597" "4848597" "del" "0" "00025" "ROGDI_000006" "g.4848597del" "" "{PMID:Tucci et al. 2012:23086778}" "" "" "" "Unknown" "" "" "" "" "" "g.4798596del" "" "pathogenic (recessive)" "" "0000019299" "3" "99" "16" "4848597" "4848597" "del" "0" "00025" "ROGDI_000006" "g.4848597del" "" "{PMID:Tucci et al. 2012:23086778}" "" "" "" "Unknown" "" "" "" "" "" "g.4798596del" "" "pathogenic (recessive)" "" "0000019301" "11" "99" "16" "4849754" "4849754" "dup" "0" "00025" "ROGDI_000007" "g.4849754dup" "" "{PMID:Tucci et al. 2012:23086778}" "" "" "" "Unknown" "" "" "" "" "" "g.4799753dup" "" "pathogenic (recessive)" "" "0000019302" "21" "99" "16" "4852511" "4852522" "del" "0" "00025" "ROGDI_000008" "g.4852511_4852522del" "" "{PMID:Tucci et al. 2012:23086778}" "" "" "" "Unknown" "" "" "" "" "" "g.4802510_4802521del" "" "pathogenic (recessive)" "" "0000019303" "3" "99" "16" "4852511" "4852522" "del" "0" "00025" "ROGDI_000008" "g.4852511_4852522del" "" "{PMID:Tucci et al. 2012:23086778}" "" "" "" "Unknown" "" "" "" "" "" "g.4802510_4802521del" "" "pathogenic (recessive)" "" "0000019305" "3" "99" "16" "4852511" "4852522" "del" "0" "00025" "ROGDI_000008" "g.4852511_4852522del" "" "{PMID:Tucci et al. 2012:23086778}" "" "" "" "Unknown" "" "" "" "" "" "g.4802510_4802521del" "" "pathogenic (recessive)" "" "0000019306" "20" "99" "16" "4852511" "4852522" "del" "0" "00025" "ROGDI_000008" "g.4852511_4852522del" "" "{PMID:Tucci et al. 2012:23086778}" "" "" "" "Unknown" "" "" "" "" "" "g.4802510_4802521del" "" "pathogenic (recessive)" "" "0000019307" "3" "99" "16" "4852493" "4852500" "del" "0" "00025" "ROGDI_000009" "g.4852493_4852500del" "" "{PMID:Tucci et al. 2012:23086778}" "" "" "" "Unknown" "" "" "" "" "" "g.4802492_4802499del" "" "pathogenic (recessive)" "" "0000019309" "3" "99" "16" "4852493" "4852500" "del" "0" "00025" "ROGDI_000009" "g.4852493_4852500del" "" "{PMID:Tucci et al. 2012:23086778}" "" "" "" "Unknown" "" "" "" "" "" "g.4802492_4802499del" "" "pathogenic (recessive)" "" "0000076061" "3" "99" "16" "4791324" "4791324" "subst" "0" "00108" "ROGDI_000010" "g.4791324C>A" "" "" "" "" "Variant Error [EREF/EREFSEQ]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000076062" "3" "99" "16" "4790550" "4790550" "subst" "0" "00108" "ROGDI_000002" "g.4790550G>A" "" "{PMID:Schossig 2012:22424600}" "" "" "Variant Error [EREF/EREFSEQ]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "yes" "rs387907145" "0" "" "" "" "" "pathogenic (recessive)" "" "0000076064" "3" "99" "16" "4787991" "4787991" "subst" "4.15227E-6" "00108" "ROGDI_000011" "g.4787991T>C" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.4737990T>C" "" "pathogenic (recessive)" "" "0000076065" "1" "99" "16" "4788595" "4788595" "del" "0" "00108" "ROGDI_000006" "g.4788595del" "" "{PMID:Tucci 2012:23086778}" "" "" "" "Germline" "?" "" "0" "" "" "g.4738594del" "" "pathogenic (recessive)" "" "0000076066" "2" "79" "16" "4792486" "4792493" "del" "0" "00108" "ROGDI_000013" "g.4792486_4792493del" "" "{PMID:Tucci 2012:23086778}" "" "" "" "Germline" "?" "" "0" "" "" "g.4742485_4742492del" "" "likely pathogenic" "" "0000297706" "0" "50" "16" "4852544" "4852544" "subst" "0" "02325" "ROGDI_000027" "g.4852544G>A" "" "" "" "ROGDI(NM_024589.3):c.29C>T (p.A10V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4802543G>A" "" "VUS" "" "0000297707" "0" "50" "16" "4847825" "4847825" "subst" "4.09497E-6" "02325" "ROGDI_000016" "g.4847825G>A" "" "" "" "ROGDI(NM_024589.3):c.712C>T (p.R238C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4797824G>A" "" "VUS" "" "0000297708" "0" "30" "16" "4847824" "4847824" "subst" "0.00489963" "02325" "ROGDI_000015" "g.4847824C>T" "" "" "" "ROGDI(NM_024589.2):c.713G>A (p.R238H), ROGDI(NM_024589.3):c.713G>A (p.R238H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4797823C>T" "" "likely benign" "" "0000301481" "0" "30" "16" "4852373" "4852373" "subst" "0.00162487" "02326" "ROGDI_000024" "g.4852373G>A" "" "" "" "ROGDI(NM_024589.2):c.117+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4802372G>A" "" "likely benign" "" "0000301482" "0" "30" "16" "4851599" "4851599" "subst" "0.00189765" "02326" "ROGDI_000023" "g.4851599G>C" "" "" "" "ROGDI(NM_024589.2):c.118-13C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4801598G>C" "" "likely benign" "" "0000301483" "0" "30" "16" "4849726" "4849726" "subst" "0.0044997" "02326" "ROGDI_000022" "g.4849726G>C" "" "" "" "ROGDI(NM_024589.2):c.393C>G (p.D131E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4799725G>C" "" "likely benign" "" "0000301484" "0" "30" "16" "4849674" "4849674" "subst" "0.000150503" "02326" "ROGDI_000021" "g.4849674G>A" "" "" "" "ROGDI(NM_024589.2):c.432+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4799673G>A" "" "likely benign" "" "0000301485" "0" "30" "16" "4848683" "4848683" "subst" "0.00218885" "02326" "ROGDI_000020" "g.4848683G>A" "" "" "" "ROGDI(NM_024589.2):c.433-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4798682G>A" "" "likely benign" "" "0000301486" "0" "30" "16" "4847993" "4847993" "subst" "0.00136572" "02326" "ROGDI_000019" "g.4847993G>A" "" "" "" "ROGDI(NM_024589.2):c.646-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4797992G>A" "" "likely benign" "" "0000301487" "0" "30" "16" "4847841" "4847841" "subst" "0.00161395" "02326" "ROGDI_000017" "g.4847841G>A" "" "" "" "ROGDI(NM_024589.2):c.696C>T (p.F232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4797840G>A" "" "likely benign" "" "0000301488" "0" "10" "16" "4847824" "4847824" "subst" "0.00489963" "02326" "ROGDI_000015" "g.4847824C>T" "" "" "" "ROGDI(NM_024589.2):c.713G>A (p.R238H), ROGDI(NM_024589.3):c.713G>A (p.R238H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4797823C>T" "" "benign" "" "0000301489" "0" "30" "16" "4847754" "4847754" "subst" "0.000446911" "02326" "ROGDI_000014" "g.4847754G>A" "" "" "" "ROGDI(NM_024589.2):c.783C>T (p.F261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4797753G>A" "" "likely benign" "" "0000324559" "0" "50" "16" "4845987" "4845987" "subst" "0.00120724" "01804" "SMIM22_000002" "g.4845987T>C" "" "" "" "SMIM22(NM_001253790.1):c.163T>C (p.(Cys55Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4795986T>C" "" "VUS" "" "0000324562" "0" "50" "16" "4847948" "4847948" "subst" "2.09175E-5" "01804" "ROGDI_000018" "g.4847948C>G" "" "" "" "ROGDI(NM_024589.2):c.686G>C (p.(Gly229Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4797947C>G" "" "VUS" "" "0000324564" "0" "50" "16" "4852458" "4852458" "subst" "0" "01804" "ROGDI_000025" "g.4852458C>T" "" "" "" "ROGDI(NM_024589.2):c.46-4G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4802457C>T" "" "VUS" "" "0000324565" "0" "50" "16" "4852459" "4852459" "subst" "0.00352216" "01804" "ROGDI_000026" "g.4852459G>A" "" "" "" "ROGDI(NM_024589.2):c.46-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4802458G>A" "" "VUS" "" "0000351234" "0" "50" "16" "4848570" "4848570" "subst" "0" "02327" "ROGDI_000028" "g.4848570C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4798569C>T" "" "VUS" "" "0000558286" "0" "30" "16" "4848092" "4848092" "subst" "0.00050159" "02326" "SEPT12_000007" "g.4848092G>C" "" "" "" "ROGDI(NM_024589.2):c.625C>G (p.L209V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4798091G>C" "" "likely benign" "" "0000558287" "0" "30" "16" "4848579" "4848579" "subst" "0.00188783" "02326" "GLYR1_000002" "g.4848579G>A" "" "" "" "ROGDI(NM_024589.2):c.522C>T (p.S174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4798578G>A" "" "likely benign" "" "0000558288" "0" "50" "16" "4848622" "4848622" "subst" "0" "02325" "GLYR1_000003" "g.4848622A>G" "" "" "" "ROGDI(NM_024589.3):c.479T>C (p.L160P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4798621A>G" "" "VUS" "" "0000558290" "0" "30" "16" "4852373" "4852373" "subst" "0.000726007" "02326" "GLYR1_000005" "g.4852373G>C" "" "" "" "ROGDI(NM_024589.2):c.117+10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4802372G>C" "" "likely benign" "" "0000616009" "0" "50" "16" "4849730" "4849730" "subst" "6.51423E-5" "02327" "GLYR1_000011" "g.4849730C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4799729C>T" "" "VUS" "" "0000616010" "0" "30" "16" "4849741" "4849741" "subst" "0.000240087" "02326" "GLYR1_000012" "g.4849741C>G" "" "" "" "ROGDI(NM_024589.2):c.378G>C (p.L126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4799740C>G" "" "likely benign" "" "0000616011" "0" "50" "16" "4852538" "4852538" "subst" "0" "01943" "GLYR1_000013" "g.4852538C>G" "" "" "" "ROGDI(NM_024589.2):c.35G>C (p.R12P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4802537C>G" "" "VUS" "" "0000623470" "0" "30" "16" "4849702" "4849702" "subst" "0.00138534" "02326" "GLYR1_000010" "g.4849702G>A" "" "" "" "ROGDI(NM_024589.2):c.417C>T (p.G139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4799701G>A" "" "likely benign" "" "0000649330" "1" "50" "16" "4847824" "4847824" "subst" "0.00489963" "03575" "ROGDI_000015" "g.4847824C>T" "3/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs138409264}" "Germline" "" "rs138409264" "0" "" "" "g.4797823C>T" "" "VUS" "" "0000657857" "0" "30" "16" "4852374" "4852374" "subst" "0.000114364" "02326" "GLYR1_000014" "g.4852374G>C" "" "" "" "ROGDI(NM_024589.2):c.117+9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4802373G>C" "" "likely benign" "" "0000680585" "0" "30" "16" "4847754" "4847754" "subst" "0.000446911" "01943" "ROGDI_000014" "g.4847754G>A" "" "" "" "ROGDI(NM_024589.2):c.783C>T (p.F261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692076" "0" "70" "16" "4847835" "4847835" "subst" "0" "01943" "SEPT12_000009" "g.4847835C>T" "" "" "" "ROGDI(NM_024589.2):c.702G>A (p.W234*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000692077" "0" "30" "16" "4848159" "4848159" "subst" "7.77726E-5" "02326" "SEPT12_000010" "g.4848159G>A" "" "" "" "ROGDI(NM_024589.2):c.558C>T (p.S186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692078" "0" "30" "16" "4848585" "4848585" "subst" "6.36537E-5" "01943" "GLYR1_000015" "g.4848585G>A" "" "" "" "ROGDI(NM_024589.2):c.516C>T (p.A172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725808" "0" "30" "16" "4847497" "4847497" "subst" "2.87467E-5" "02326" "SEPT12_000012" "g.4847497G>A" "" "" "" "ROGDI(NM_024589.2):c.828C>T (p.S276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725809" "0" "50" "16" "4848611" "4848611" "subst" "0" "02325" "GLYR1_000016" "g.4848611C>T" "" "" "" "ROGDI(NM_024589.3):c.490G>A (p.A164T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000787106" "3" "70" "16" "4847461" "4848668" "delins" "0" "00006" "ROGDI_000029" "g.(?_4847461)_(4848668_?)delinsCAG" "" "{PMID:Ganapathy 2019:31069529}" "" "chr16:4847461?_4848668+?delinsCAG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000807421" "0" "30" "16" "4848560" "4848560" "subst" "7.27119E-5" "01943" "ROGDI_000030" "g.4848560G>A" "" "" "" "ROGDI(NM_024589.2):c.531+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864818" "0" "30" "16" "4852373" "4852373" "subst" "0.000726007" "01943" "GLYR1_000005" "g.4852373G>C" "" "" "" "ROGDI(NM_024589.2):c.117+10C>G" "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 ROGDI ## Count = 71 "{{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}}" "0000019257" "00000220" "99" "229" "0" "230" "0" "c.229_230del" "r.(?)" "p.(Leu77Alafs*64)" "4" "0000019259" "00000220" "99" "229" "0" "230" "0" "c.229_230del" "r.(?)" "p.(Leu77Alafs*64)" "4" "0000019261" "00000220" "99" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.(Gln96Ter)" "5" "0000019263" "00000220" "99" "531" "5" "531" "5" "c.531+5G>C" "r.433_531del" "p.?" "7i" "0000019264" "00000220" "99" "532" "-2" "532" "-2" "c.532-2A>T" "r.530_531ins531-83_531-1" "p.?" "7i" "0000019265" "00000220" "99" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Ter)" "7" "0000019267" "00000220" "99" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Ter)" "7" "0000019269" "00000220" "99" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Ter)" "7" "0000019271" "00000220" "99" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Ter)" "7" "0000019273" "00000220" "99" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Ter)" "7" "0000019275" "00000220" "99" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Ter)" "7" "0000019277" "00000220" "99" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Ter)" "7" "0000019279" "00000220" "99" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Ter)" "7" "0000019281" "00000220" "99" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Ter)" "7" "0000019283" "00000220" "99" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Ter)" "7" "0000019285" "00000220" "99" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Ter)" "7" "0000019287" "00000220" "99" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Ter)" "7" "0000019289" "00000220" "99" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Ter)" "7" "0000019291" "00000220" "99" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Ter)" "7" "0000019293" "00000220" "99" "507" "0" "507" "0" "c.507del" "r.(?)" "p.(Glu170Argfs)" "7" "0000019295" "00000220" "99" "507" "0" "507" "0" "c.507del" "r.(?)" "p.(Glu170Argfs)" "7" "0000019297" "00000220" "99" "507" "0" "507" "0" "c.507del" "r.(?)" "p.(Glu170Argfs)" "7" "0000019299" "00000220" "99" "507" "0" "507" "0" "c.507del" "r.(?)" "p.(Glu170Argfs)" "7" "0000019301" "00000220" "99" "366" "0" "366" "0" "c.366dup" "r.(?)" "p.(Ala123Serfs)" "6" "0000019302" "00000220" "99" "45" "9" "45" "20" "c.45+9_45+20del" "r.spl" "p.Glu16Valfs" "1i" "0000019303" "00000220" "99" "45" "9" "45" "20" "c.45+9_45+20del" "r.spl" "p.Glu16Valfs" "1i" "0000019305" "00000220" "99" "45" "9" "45" "20" "c.45+9_45+20del" "r.spl" "p.Glu16Valfs" "1i" "0000019306" "00000220" "99" "45" "9" "45" "20" "c.45+9_45+20del" "r.spl" "p.Glu16Valfs" "1i" "0000019307" "00000220" "99" "46" "-37" "46" "-30" "c.46-37_46-30del" "r.(?)" "p.(?)" "1i" "0000019309" "00000220" "99" "46" "-37" "46" "-30" "c.46-37_46-30del" "r.(?)" "p.(?)" "1i" "0000076061" "00000220" "99" "201" "-1" "201" "-1" "c.201-1G>T" "r.(?)" "p.(?)" "" "0000076062" "00000220" "99" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.(Gln96Ter)" "5" "0000076064" "00000220" "99" "646" "-2" "646" "-2" "c.646-2A>G" "r.(?)" "p.(?)" "" "0000076065" "00000220" "99" "507" "0" "507" "0" "c.507del" "r.(?)" "p.Glu170Argfs*72" "7" "0000076066" "00000220" "79" "45" "37" "46" "-30" "c.45+37_46-30del" "r.(?)" "p.(?)" "1i" "0000297706" "00000220" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Ala10Val)" "" "0000297707" "00000220" "50" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Arg238Cys)" "" "0000297708" "00000220" "30" "713" "0" "713" "0" "c.713G>A" "r.(?)" "p.(Arg238His)" "" "0000301481" "00000220" "30" "117" "10" "117" "10" "c.117+10C>T" "r.(=)" "p.(=)" "" "0000301482" "00000220" "30" "118" "-13" "118" "-13" "c.118-13C>G" "r.(=)" "p.(=)" "" "0000301483" "00000220" "30" "393" "0" "393" "0" "c.393C>G" "r.(?)" "p.(Asp131Glu)" "" "0000301484" "00000220" "30" "432" "13" "432" "13" "c.432+13C>T" "r.(=)" "p.(=)" "" "0000301485" "00000220" "30" "433" "-15" "433" "-15" "c.433-15C>T" "r.(=)" "p.(=)" "" "0000301486" "00000220" "30" "646" "-5" "646" "-5" "c.646-5C>T" "r.spl?" "p.?" "" "0000301487" "00000220" "30" "696" "0" "696" "0" "c.696C>T" "r.(?)" "p.(Phe232=)" "" "0000301488" "00000220" "10" "713" "0" "713" "0" "c.713G>A" "r.(?)" "p.(Arg238His)" "" "0000301489" "00000220" "30" "783" "0" "783" "0" "c.783C>T" "r.(?)" "p.(Phe261=)" "" "0000324559" "00000220" "50" "2338" "0" "2338" "0" "c.*1474A>G" "r.(=)" "p.(=)" "" "0000324562" "00000220" "50" "686" "0" "686" "0" "c.686G>C" "r.(?)" "p.(Gly229Ala)" "" "0000324564" "00000220" "50" "46" "-4" "46" "-4" "c.46-4G>A" "r.spl?" "p.?" "" "0000324565" "00000220" "50" "46" "-5" "46" "-5" "c.46-5C>T" "r.spl?" "p.?" "" "0000351234" "00000220" "50" "531" "0" "531" "0" "c.531G>A" "r.(?)" "p.(Thr177=)" "" "0000558286" "00000220" "30" "625" "0" "625" "0" "c.625C>G" "r.(?)" "p.(Leu209Val)" "" "0000558287" "00000220" "30" "522" "0" "522" "0" "c.522C>T" "r.(?)" "p.(Ser174=)" "" "0000558288" "00000220" "50" "479" "0" "479" "0" "c.479T>C" "r.(?)" "p.(Leu160Pro)" "" "0000558290" "00000220" "30" "117" "10" "117" "10" "c.117+10C>G" "r.(=)" "p.(=)" "" "0000616009" "00000220" "50" "389" "0" "389" "0" "c.389G>A" "r.(?)" "p.(Arg130Gln)" "" "0000616010" "00000220" "30" "378" "0" "378" "0" "c.378G>C" "r.(?)" "p.(Leu126=)" "" "0000616011" "00000220" "50" "35" "0" "35" "0" "c.35G>C" "r.(?)" "p.(Arg12Pro)" "" "0000623470" "00000220" "30" "417" "0" "417" "0" "c.417C>T" "r.(?)" "p.(Gly139=)" "" "0000649330" "00000220" "50" "713" "0" "713" "0" "c.713G>A" "r.(?)" "p.(Arg238His)" "" "0000657857" "00000220" "30" "117" "9" "117" "9" "c.117+9C>G" "r.(=)" "p.(=)" "" "0000680585" "00000220" "30" "783" "0" "783" "0" "c.783C>T" "r.(?)" "p.(Phe261=)" "" "0000692076" "00000220" "70" "702" "0" "702" "0" "c.702G>A" "r.(?)" "p.(Trp234Ter)" "" "0000692077" "00000220" "30" "558" "0" "558" "0" "c.558C>T" "r.(?)" "p.(Ser186=)" "" "0000692078" "00000220" "30" "516" "0" "516" "0" "c.516C>T" "r.(?)" "p.(Ala172=)" "" "0000725808" "00000220" "30" "828" "0" "828" "0" "c.828C>T" "r.(?)" "p.(Ser276=)" "" "0000725809" "00000220" "50" "490" "0" "490" "0" "c.490G>A" "r.(?)" "p.(Ala164Thr)" "" "0000787106" "00000220" "70" "432" "462" "1009" "0" "c.432+462_*145delinsCAG" "r.?" "p.?" "6i_11" "0000807421" "00000220" "30" "531" "10" "531" "10" "c.531+10C>T" "r.(=)" "p.(=)" "" "0000864818" "00000220" "30" "117" "10" "117" "10" "c.117+10C>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 37 "{{screeningid}}" "{{variantid}}" "0000001458" "0000019257" "0000001459" "0000019259" "0000001460" "0000019261" "0000001461" "0000019263" "0000001461" "0000019264" "0000001462" "0000019265" "0000001463" "0000019267" "0000001464" "0000019269" "0000001465" "0000019271" "0000001466" "0000019273" "0000001467" "0000019275" "0000001468" "0000019277" "0000001469" "0000019279" "0000001470" "0000019281" "0000001471" "0000019283" "0000001472" "0000019285" "0000001473" "0000019287" "0000001474" "0000019289" "0000001475" "0000019291" "0000001476" "0000019293" "0000001477" "0000019295" "0000001478" "0000019297" "0000001479" "0000019299" "0000001480" "0000019301" "0000001480" "0000019302" "0000001481" "0000019303" "0000001482" "0000019305" "0000001482" "0000019306" "0000001483" "0000019307" "0000001484" "0000019309" "0000047385" "0000076061" "0000047386" "0000076062" "0000047388" "0000076064" "0000047389" "0000076065" "0000047389" "0000076066" "0000292641" "0000649330" "0000375755" "0000787106"