### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GRIN1) # 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}}" "GRIN1" "glutamate receptor, ionotropic, N-methyl D-aspartate 1" "9" "q34.3" "unknown" "NG_011507.1" "UD_132118837577" "" "http://www.LOVD.nl/GRIN1" "" "1" "4584" "2902" "138249" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/GRIN1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2014-11-14 19:51:00" "00000" "2025-05-05 21:14:00" ## 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}}" "00008940" "GRIN1" "transcript variant NR1-3" "003" "NM_007327.3" "" "NP_015566.1" "" "" "" "-330" "4052" "2817" "140033609" "140063214" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "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" "00803" "NDHMSD" "Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant" "" "614254" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00841" "EIEE" "encephalopathy, epileptic, early infantile (EIEE)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-02-20 16:58:56" "04147" "MRT" "mental retardation, autosomal recessive (MRT, intellectual disability (IDT))" "" "" "" "autosomal recessive" "" "00006" "2014-10-11 12:21:35" "00006" "2018-12-18 09:25:11" "04282" "CVI" "cerebral visual impairment (CVI)" "" "" "" "" "" "00006" "2015-06-15 15:37:52" "00006" "2015-06-15 15:38:26" "05315" "epilepsy, Rolandic" "epilepsy, Rolandic" "" "" "" "" "" "00006" "2017-08-11 13:02:50" "" "" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06817" "NDHMSR" "Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive" "AR" "617820" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "07000" "DEE101" "encephalopathy, developmental and epileptic, type 101" "AR" "619814" "" "" "" "00006" "2023-02-01 18:30:02" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "GRIN1" "00139" "GRIN1" "00803" "GRIN1" "06817" "GRIN1" "07000" ## Individuals ## Do not remove or alter this header ## ## Count = 72 "{{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}}" "00024271" "" "" "" "1" "" "00006" "{PMID:Hamdan 2011:21376300}" "" "F" "" "Canada" ">10y" "0" "" "" "" "" "00024272" "" "" "" "1" "" "00006" "{PMID:Hamdan 2011:21376300}" "" "M" "" "Canada" ">07y06m" "0" "" "" "" "" "00024275" "" "" "" "285" "" "00006" "{PMID:Hamdan 2011:21376300}" "285 controls" "-" "" "Canada" "" "0" "" "" "French" "" "00024276" "" "" "" "50" "" "00006" "{PMID:Hamdan 2011:21376300}" "50 cases" "-" "" "Canada" "" "0" "" "" "French" "" "00039399" "" "" "" "1" "" "01158" "{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "F" "yes" "" "" "0" "" "" "" "" "00080181" "" "" "" "1" "" "00121" "{PMID:Soldovieri 2014:24375629}, {DOI:Soldovieri 2014:10.10020}" "" "M" "yes" "Morocco" "" "0" "" "" "" "" "00100436" "" "" "" "1" "" "00146" "" "" "F" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00104570" "" "" "" "1" "" "02011" "" "" "M" "no" "Czech Republic" "" "0" "" "" "white" "" "00116950" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_425:0/1:CONTROL" "00116981" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_497:0/1:CONTROL" "00117103" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_737:0/1:TYPICAL_RE" "00117118" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_79:0/1:CONTROL" "00294817" "" "" "" "187" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296764" "" "" "" "1" "" "00006" "{PMID:Redin 2014:25167861}" "analysis 106 patients; 3-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "France" "" "0" "" "" "" "APN-63" "00302997" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat42" "00302998" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat43" "00305240" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00310670" "" "" "" "1" "" "00006" "{PMID:Lemke 2016:27164704}" "copied from {DB:GRIN}" "M" "" "" "" "0" "" "" "" "GRINdb-1" "00310671" "" "" "" "1" "" "00006" "{PMID:Lemke 2016:27164704}" "copied from {DB:GRIN}" "M" "" "" "" "0" "" "" "" "GRINdb-2" "00310672" "" "" "" "1" "" "00006" "{PMID:Lemke 2016:27164704}" "copied from {DB:GRIN}" "M" "" "" "" "0" "" "" "" "GRINdb-3" "00310673" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "M" "" "" "" "0" "" "" "" "GRINdb-4" "00310869" "" "" "" "1" "" "00006" "{PMID:Ohba 2015:25864721}" "copied from {DB:GRIN}" "F" "" "" "" "0" "" "" "" "GRINdb-226" "00310870" "" "" "" "1" "" "00006" "{PMID:Lemke 2016:27164704}" "copied from {DB:GRIN}" "M" "" "" "" "0" "" "" "" "GRINdb-227" "00310871" "" "" "" "1" "" "00006" "{PMID:Lemke 2016:27164704}" "copied from {DB:GRIN}" "F" "" "" "" "0" "" "" "" "GRINdb-228" "00310872" "" "" "" "1" "" "00006" "{PMID:Ohba 2015:25864721}" "copied from {DB:GRIN}" "M" "" "" "" "0" "" "" "" "GRINdb-229" "00310873" "" "" "" "1" "" "00006" "{PMID:Lemke 2016:27164704}" "copied from {DB:GRIN}" "M" "" "" "" "0" "" "" "" "GRINdb-232" "00310874" "" "" "" "1" "" "00006" "{PMID:Lemke 2016:27164704}" "copied from {DB:GRIN}" "M" "" "" "" "0" "" "" "" "GRINdb-233" "00310875" "" "" "" "1" "" "00006" "{PMID:Ohba 2015:25864721}" "copied from {DB:GRIN}" "M" "" "" "" "0" "" "" "" "GRINdb-234" "00310876" "" "" "" "1" "" "00006" "{PMID:Lemke 2016:27164704}" "copied from {DB:GRIN}" "M" "" "" "" "0" "" "" "" "GRINdb-235" "00310877" "" "" "" "1" "" "00006" "{PMID:Epi4K 2013:23934111}" "copied from {DB:GRIN}" "F" "" "" "" "0" "" "" "" "GRINdb-236" "00310878" "" "" "" "1" "" "00006" "{PMID:Ohba 2015:25864721}" "copied from {DB:GRIN}" "M" "" "" "" "0" "" "" "" "GRINdb-237" "00310879" "" "" "" "1" "" "00006" "{PMID:Lemke 2016:27164704}" "copied from {DB:GRIN}" "M" "" "" "" "0" "" "" "" "GRINdb-238" "00310880" "" "" "" "1" "" "00006" "{PMID:Lemke 2016:27164704}" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-239" "00310881" "" "" "" "1" "" "00006" "{PMID:Lemke 2016:27164704}" "copied from {DB:GRIN}" "F" "" "" "" "0" "" "" "" "GRINdb-240" "00310882" "" "" "" "1" "" "00006" "{PMID:Lemke 2016:27164704}" "copied from {DB:GRIN}" "M" "" "" "" "0" "" "" "" "GRINdb-241" "00310883" "" "" "" "1" "" "00006" "{PMID:Lemke 2016:27164704}" "copied from {DB:GRIN}" "M" "" "" "" "0" "" "" "" "GRINdb-242" "00310884" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "F" "" "" "" "0" "" "" "" "GRINdb-243" "00310885" "" "" "" "1" "" "00006" "{PMID:Lemke 2016:27164704}" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-244" "00310886" "" "" "" "1" "" "00006" "{PMID:Lemke 2016:27164704}" "copied from {DB:GRIN}" "F" "" "" "" "0" "" "" "" "GRINdb-245" "00310956" "" "" "" "1" "" "00006" "{PMID:Lemke 2016:27164704}" "copied from {DB:GRIN}" "M" "" "" "" "0" "" "" "" "GRINdb-340" "00310957" "" "" "" "1" "" "00006" "{PMID:Lemke 2016:27164704}" "copied from {DB:GRIN}" "F" "" "" "" "0" "" "" "" "GRINdb-341" "00310958" "" "" "" "1" "" "00006" "{PMID:Lemke 2016:27164704}" "copied from {DB:GRIN}" "F" "" "" "" "0" "" "" "" "GRINdb-342" "00310959" "" "" "" "1" "" "00006" "{PMID:Lemke 2016:27164704}" "copied from {DB:GRIN}" "F" "" "" "" "0" "" "" "" "GRINdb-343" "00310960" "" "" "" "1" "" "00006" "{PMID:Lemke 2016:27164704}" "copied from {DB:GRIN}" "F" "" "" "" "0" "" "" "" "GRINdb-344" "00310961" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "F" "" "" "" "0" "" "" "" "GRINdb-345" "00310962" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "M" "" "" "" "0" "" "" "" "GRINdb-346" "00310963" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "M" "" "" "" "0" "" "" "" "GRINdb-347" "00310964" "" "" "" "1" "" "00006" "{PMID:Retterer 2015:26633542}" "" "F" "" "" "" "0" "" "" "" "" "00310970" "" "" "" "1" "" "00006" "{PMID:Retterer 2015:26633542}" "" "" "" "" "" "0" "" "" "" "" "00310971" "" "" "" "1" "" "00006" "{PMID:Rossi 2017:28051072}" "copied from {DB:GRIN}" "F" "" "" "" "0" "" "" "" "GRINdb-355" "00310972" "" "" "" "1" "" "00006" "{PMID:Rossi 2017:28051072}" "copied from {DB:GRIN}" "M" "" "" "" "0" "" "" "" "GRINdb-356" "00310974" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "M" "" "" "" "0" "" "" "" "GRINdb-360" "00310982" "" "" "" "1" "" "00006" "Ortega-Moreno" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-368" "00310984" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-370" "00310985" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-371" "00310990" "" "" "" "1" "" "00006" "{PMID:Tan 2017:28759686}" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-376" "00310991" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "M" "" "" "" "0" "" "" "" "GRINdb-377" "00310992" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "F" "" "" "" "0" "" "" "" "GRINdb-378" "00310993" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "F" "" "" "" "0" "" "" "" "GRINdb-379" "00310997" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "F" "" "" "" "0" "" "" "" "GRINdb-383" "00310998" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "F" "" "" "" "0" "" "" "" "GRINdb-384" "00311009" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-395" "00311010" "" "" "" "1" "" "00006" "" "copied from {DB:GRIN}" "" "" "" "" "0" "" "" "" "GRINdb-396" "00314891" "" "" "" "1" "" "00006" "{PMID:Zhu 2015:25590979}" "" "F" "" "United States" "" "0" "" "" "" "Trio72" "00325407" "" "" "" "1" "" "00006" "{PMID:Hong 2020:33333793}" "" "M" "" "Taiwan" "" "0" "" "" "" "Pat20" "00412365" "" "" "" "1" "" "00006" "{PMID:Halvardson 2016:27334371}" "" "M" "" "Sweden" "" "0" "" "" "" "Fam9" "00431198" "" "" "" "1" "" "00006" "{PMID:Brock 2023:35393335}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "United Kingdom (Great Britain)" "Pat1" "00431199" "" "" "" "1" "" "00006" "{PMID:Brock 2023:35393335}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "United Kingdom (Great Britain)" "Pat2" "00431200" "" "" "" "1" "" "00006" "{PMID:Brock 2023:35393335}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Pat3" "00431201" "" "" "" "1" "" "00006" "{PMID:Brock 2023:35393335}" "2-generation family, 1 affected fetus, unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "Pat4" "00431205" "" "" "" "1" "" "00006" "{PMID:Brock 2023:35393335}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Pat8" "00448194" "" "" "" "1" "" "00006" "{PMID:Poli 2024:38177409}" "" "F" "" "Chile" "" "0" "" "" "" "Pat132" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 73 "{{individualid}}" "{{diseaseid}}" "00024271" "00139" "00024272" "00139" "00024275" "00000" "00024276" "00139" "00039399" "00139" "00039399" "04282" "00080181" "04147" "00100436" "00841" "00104570" "00803" "00116950" "00000" "00116981" "00000" "00117103" "05315" "00117118" "00000" "00294817" "00198" "00296764" "00139" "00302997" "05521" "00302998" "05521" "00305240" "00198" "00310670" "05611" "00310671" "05611" "00310672" "05611" "00310673" "05611" "00310869" "05611" "00310870" "05611" "00310871" "05611" "00310872" "05611" "00310873" "05611" "00310874" "05611" "00310875" "05611" "00310876" "05611" "00310877" "05611" "00310878" "05611" "00310879" "05611" "00310880" "05611" "00310881" "05611" "00310882" "05611" "00310883" "05611" "00310884" "05611" "00310885" "05611" "00310886" "05611" "00310956" "05611" "00310957" "05611" "00310958" "05611" "00310959" "05611" "00310960" "05611" "00310961" "05611" "00310962" "05611" "00310963" "05611" "00310964" "05611" "00310970" "05611" "00310971" "05611" "00310972" "05611" "00310974" "05611" "00310982" "05611" "00310984" "05611" "00310985" "05611" "00310990" "05611" "00310991" "05611" "00310992" "05611" "00310993" "05611" "00310997" "05611" "00310998" "05611" "00311009" "05611" "00311010" "05611" "00314891" "00198" "00325407" "00198" "00412365" "05611" "00431198" "05611" "00431199" "05611" "00431200" "05611" "00431201" "05611" "00431205" "05611" "00448194" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00803, 00841, 04147, 04282, 05315, 05521, 05611, 06817, 07000 ## Count = 66 "{{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/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000020390" "00139" "00024271" "00006" "Isolated (sporadic)" "" "moderate intellectual disability, no epilepsy, CT-scan normal, neurological examination normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020391" "00139" "00024272" "00006" "Isolated (sporadic)" "" "severe intellectual disability, partial complex epilepsy, MRI normal, hypotonia" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020394" "00139" "00024276" "00006" "Isolated (sporadic)" "" "nonsyndromic intellectual disability (NSID), no dysmorphic features, birth weight/postnatal growth in normal limits, birth normal head circumference" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061154" "04147" "00080181" "00121" "Familial, autosomal recessive" "05y05m" "Neonatal hypotonia, psychomotor delay, intellectual deficiency" "00y01m" "" "05y05m" "Intellectual deficiency" "" "" "" "" "" "" "" "" "" "0000078638" "00841" "00100436" "00146" "Isolated (sporadic)" "02y" "severe early infantile encephalopathy (global)\r\nhyperkinetic stereotypic movements\r\n\"oculogyric like\" eye movements" "00y02m" "" "" "" "" "" "profound" "" "" "" "" "" "" "0000078835" "04282" "00039399" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082484" "00803" "00104570" "02011" "Familial, autosomal dominant" "09y" "severe intellectual disability, motor developmental delay, growth retardation, microcephaly, heart defect, hypotonia" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092362" "05315" "00117103" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000224163" "00139" "00296764" "00006" "Familial, autosomal dominant" "" "severe intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000230080" "05521" "00302997" "00006" "Isolated (sporadic)" "" "Unclassified epilepsy; age onset adolescent" "" "" "" "" "" "" "" "" "" "" "MRD8" "seizures" "" "0000230081" "05521" "00302998" "00006" "Isolated (sporadic)" "" "Unclassified epilepsy; age onset childhood" "" "" "" "" "" "" "" "" "" "" "MRD8" "seizures" "" "0000235941" "05611" "00310670" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000235942" "05611" "00310671" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000235943" "05611" "00310672" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000235944" "05611" "00310673" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236140" "05611" "00310869" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236141" "05611" "00310870" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236142" "05611" "00310871" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236143" "05611" "00310872" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236144" "05611" "00310873" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236145" "05611" "00310874" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236146" "05611" "00310875" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236147" "05611" "00310876" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236148" "05611" "00310877" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236149" "05611" "00310878" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236150" "05611" "00310879" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236151" "05611" "00310880" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236152" "05611" "00310881" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236153" "05611" "00310882" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236154" "05611" "00310883" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236155" "05611" "00310884" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236156" "05611" "00310885" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236157" "05611" "00310886" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236227" "05611" "00310956" "00006" "Unknown" "" "see paper; ..., seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236228" "05611" "00310957" "00006" "Unknown" "" "see paper; ..., seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236229" "05611" "00310958" "00006" "Unknown" "" "see paper; ..., seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236230" "05611" "00310959" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236231" "05611" "00310960" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236232" "05611" "00310961" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236233" "05611" "00310962" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236234" "05611" "00310963" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236235" "05611" "00310964" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236241" "05611" "00310970" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236242" "05611" "00310971" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236243" "05611" "00310972" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236245" "05611" "00310974" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236253" "05611" "00310982" "00006" "Unknown" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236255" "05611" "00310984" "00006" "Unknown" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236256" "05611" "00310985" "00006" "Unknown" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236261" "05611" "00310990" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236262" "05611" "00310991" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability of unknown degree, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236263" "05611" "00310992" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236264" "05611" "00310993" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, no seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236268" "05611" "00310997" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236269" "05611" "00310998" "00006" "Unknown" "" "see paper; ..., severe/profound developmental delay/intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236280" "05611" "00311009" "00006" "Unknown" "" "see paper; ..., seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236281" "05611" "00311010" "00006" "Unknown" "" "see paper; ..., seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000238649" "00198" "00314891" "00006" "Unknown" "8y" "Developmental delay, sleep disturbances, hypotonia, abnormal gait, chronic constipation, microcephaly, abnormal limb posturing, arachnodactyly, no true language skills, Angelman-like phenotype, no seizures, no regression." "14d" "" "" "" "" "" "" "" "" "" "" "" "" "0000243894" "00198" "00325407" "00006" "Isolated (sporadic)" "" "2m-onset seizures; infantile spasms; global developmental delay" "" "" "4m" "" "" "" "" "" "" "" "" "developmental epileptic encephalopathy" "" "0000304370" "05611" "00412365" "00006" "Isolated (sporadic)" "" "mild intellectual disability, drug resitent epilepsy, mild left sided hemiparesis" "" "" "" "" "" "" "" "" "" "" "" "intellectual disability, epilepsy" "" "0000321807" "05611" "00431198" "00006" "Isolated (sporadic)" "19m" "severe developmental delay; birth/prenatal-seizures; no refractory seizures; hypertonia; long palpebral fissures, shallow orbits, overlapping fingers; OFC 41.5 cm (-5.2 SD); dysgyria bilateral diffuse ( anterior>posterior); reduced white matter, enlarged lateral ventricles, hypoplastic corpus callosum, abnormal myelination in brainstem, dysmorphic hippocampus" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000321808" "05611" "00431199" "00006" "Isolated (sporadic)" "" "severe developmental delay; 4m-seizures, absences, drops, tonic extensions; refractory seizures; spastic quadriplegia; thin upper lips, anteverted nostrils, high frontal hairline, wide nasal bridge; OFC 0.4-2nd percentile; dysgyria bilateral diffuse ( anterior>posterior); reduced white matter, enlarged lateral ventricles, hypoplastic corpus callosum, dysmorphic basal ganglia" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000321809" "05611" "00431200" "00006" "Isolated (sporadic)" "<0d" "analysis 25wg; prominent philtrum, broad nasal bridge, anteverted nostrils; low brain weight, OFC -2 SD; dysgyria bilateral diffuse; enlarged third ventricle, absent gyration, agenesis corpus callosum" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000321810" "05611" "00431201" "00006" "Isolated (sporadic)" "<0d" "analysis 30wg; marked nasal ridge, prominent philtrum, flat face, camptodactyly; low brain weight; dysgyria bilateral diffuse; enlarged lateral ventricles, operculation of sylvian fissure, enlarged subarachnoid spaces" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000321814" "05611" "00431205" "00006" "Familial, autosomal recessive" "6d" "early postnatal-seizures, status epilepticus; refractory seizures; no dysmorphism; brain weight within normal limits; microcephaly with simplified gyral pattern; bilateral symmetric subcortical atrophy with periventricular leucoencephalopathy" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000337404" "00198" "00448194" "00006" "Unknown" "15y" "intellectual disability-severe; seizure; feeding difficulties; short stature; scoliosis" "" "" "" "" "" "" "" "" "" "" "" "rare disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 72 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000024263" "00024271" "1" "00006" "00006" "2014-11-14 19:55:25" "" "" "SEQ" "DNA" "" "" "0000024264" "00024272" "1" "00006" "00006" "2014-11-14 21:38:00" "" "" "SEQ" "DNA" "" "" "0000024267" "00024275" "1" "00006" "00006" "2014-11-15 10:20:14" "" "" "SEQ" "DNA" "" "" "0000024268" "00024276" "1" "00006" "00006" "2014-11-15 10:49:27" "" "" "SEQ" "DNA" "" "" "0000039640" "00039399" "1" "01158" "01158" "2015-06-15 14:32:40" "" "" "SEQ-NG" "DNA" "" "" "0000080274" "00080181" "1" "00121" "00121" "2016-09-02 16:22:57" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000100841" "00100436" "1" "00146" "00146" "2017-02-23 22:52:31" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000105042" "00104570" "1" "02011" "02011" "2017-05-16 16:55:04" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000117418" "00116950" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117449" "00116981" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117496" "00117118" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117573" "00117103" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000295985" "00294817" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297874" "00296764" "1" "00006" "00006" "2020-04-13 12:27:32" "" "" "SEQ;SEQ-NG" "DNA" "" "219-gene ID panel" "0000304122" "00302997" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000304123" "00302998" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000306369" "00305240" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000311822" "00310670" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single) 2014" "0000311823" "00310671" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single) 2014" "0000311824" "00310672" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000311825" "00310673" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000312021" "00310869" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000312022" "00310870" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000312023" "00310871" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000312024" "00310872" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000312025" "00310873" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000312026" "00310874" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000312027" "00310875" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000312028" "00310876" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000312029" "00310877" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000312030" "00310878" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000312031" "00310879" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000312032" "00310880" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000312033" "00310881" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000312034" "00310882" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000312035" "00310883" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000312036" "00310884" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000312037" "00310885" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000312038" "00310886" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000312108" "00310956" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000312109" "00310957" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000312110" "00310958" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000312111" "00310959" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000312112" "00310960" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000312113" "00310961" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000312114" "00310962" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000312115" "00310963" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000312116" "00310964" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000312122" "00310970" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000312123" "00310971" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000312124" "00310972" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel" "0000312126" "00310974" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000312134" "00310982" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000312136" "00310984" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000312137" "00310985" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000312142" "00310990" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000312143" "00310991" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000312144" "00310992" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (single)" "0000312145" "00310993" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000312149" "00310997" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (trio)" "0000312150" "00310998" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "gene panel 2016" "0000312161" "00311009" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000312162" "00311010" "1" "00006" "00006" "2020-09-13 12:38:57" "" "" "SEQ" "DNA" "" "" "0000316065" "00314891" "1" "00006" "00006" "2020-10-20 15:09:17" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000326618" "00325407" "1" "00006" "00006" "2021-01-02 12:18:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000413637" "00412365" "1" "00006" "00006" "2022-06-27 21:35:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000432612" "00431198" "1" "00006" "00006" "2023-02-01 21:19:33" "" "" "SEQ;SEQ-NG" "DNA" "saliva" "WES" "0000432613" "00431199" "1" "00006" "00006" "2023-02-01 21:19:33" "" "" "SEQ;SEQ-NG" "DNA" "saliva" "WES" "0000432614" "00431200" "1" "00006" "00006" "2023-02-01 21:19:33" "" "" "SEQ;SEQ-NG" "DNA" "amniocentesis" "WES" "0000432615" "00431201" "1" "00006" "00006" "2023-02-01 21:19:33" "" "" "SEQ;SEQ-NG" "DNA" "amniocentesis" "WES" "0000432619" "00431205" "1" "00006" "00006" "2023-02-01 21:19:33" "" "" "SEQ;SEQ-NG" "DNA" "blood" "gene panel" "0000449769" "00448194" "1" "00006" "00006" "2024-02-22 17:47:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 65 "{{screeningid}}" "{{geneid}}" "0000024263" "GRIN1" "0000024264" "GRIN1" "0000024267" "CACNG2" "0000024267" "EPB41L1" "0000024267" "GRIN1" "0000024267" "KIF1A" "0000024268" "CACNG2" "0000024268" "EPB41L1" "0000024268" "GRIN1" "0000024268" "KIF1A" "0000080274" "GRIN1" "0000100841" "GRIN1" "0000105042" "GRIN1" "0000297874" "GRIN1" "0000304122" "GRIN1" "0000304123" "GRIN1" "0000311822" "GRIN1" "0000311823" "GRIN1" "0000311824" "GRIN1" "0000311825" "GRIN1" "0000312021" "GRIN1" "0000312022" "GRIN1" "0000312023" "GRIN1" "0000312024" "GRIN1" "0000312025" "GRIN1" "0000312026" "GRIN1" "0000312027" "GRIN1" "0000312028" "GRIN1" "0000312029" "GRIN1" "0000312030" "GRIN1" "0000312031" "GRIN1" "0000312032" "GRIN1" "0000312033" "GRIN1" "0000312034" "GRIN1" "0000312035" "GRIN1" "0000312036" "GRIN1" "0000312037" "GRIN1" "0000312038" "GRIN1" "0000312108" "GRIN1" "0000312109" "GRIN1" "0000312110" "GRIN1" "0000312111" "GRIN1" "0000312112" "GRIN1" "0000312113" "GRIN1" "0000312114" "GRIN1" "0000312115" "GRIN1" "0000312116" "GRIN1" "0000312122" "GRIN1" "0000312123" "GRIN1" "0000312124" "GRIN1" "0000312126" "GRIN1" "0000312134" "GRIN1" "0000312136" "GRIN1" "0000312137" "GRIN1" "0000312142" "GRIN1" "0000312143" "GRIN1" "0000312144" "GRIN1" "0000312145" "GRIN1" "0000312149" "GRIN1" "0000312150" "GRIN1" "0000312161" "GRIN1" "0000312162" "GRIN1" "0000316065" "GRIN1" "0000316065" "TUBGCP6" "0000326618" "GRIN1" ## 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 = 152 "{{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}}" "0000046859" "0" "90" "9" "140057162" "140057162" "subst" "0" "00006" "GRIN1_000001" "g.140057162G>A" "" "{PMID:Hamdan 2011:21376300}" "" "" "" "De novo" "" "" "0" "" "" "g.137162710G>A" "" "pathogenic" "" "0000046860" "0" "90" "9" "140056670" "140056672" "dup" "0" "00006" "GRIN1_000002" "g.140056670_140056672dup" "" "{PMID:Hamdan 2011:21376300}" "" "" "" "De novo" "" "" "0" "" "" "g.137162218_137162220dup" "" "pathogenic" "" "0000046861" "0" "90" "9" "140057162" "140057162" "subst" "0" "00006" "GRIN1_000001" "g.140057162G>A" "" "{PMID:Hamdan 2011:21376300}" "" "" "electrophysiology of Xenopus oocyte coinjection with NR2B shows increased Ba2+ currents, affinity of receptor to agonist glycine and response to Mg2+ block not affected" "In vitro (cloned)" "-" "" "0" "" "" "g.137162710G>A" "" "NA" "" "0000046862" "0" "90" "9" "140056670" "140056672" "dup" "0" "00006" "GRIN1_000002" "g.140056670_140056672dup" "" "{PMID:Hamdan 2011:21376300}" "" "" "electrophysiology of Xenopus oocyte coinjection with NR2B shows almost blocked activity of the receptor" "In vitro (cloned)" "-" "" "0" "" "" "g.137162218_137162220dup" "" "NA" "" "0000046884" "0" "30" "9" "140056985" "140056985" "subst" "0.000348657" "00006" "GRIN1_000008" "g.140056985C>T" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "" "0" "" "" "g.137162533C>T" "" "likely benign" "" "0000046885" "0" "30" "9" "140058197" "140058197" "subst" "0.00025225" "00006" "GRIN1_000009" "g.140058197G>A" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "" "0" "" "" "g.137163745G>A" "" "likely benign" "" "0000046886" "0" "30" "9" "140055685" "140055685" "subst" "0" "00006" "GRIN1_000010" "g.140055685G>C" "2/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "" "0" "" "" "g.137161233G>C" "" "likely benign" "" "0000046887" "0" "30" "9" "140036636" "140036636" "subst" "0.00486496" "00006" "GRIN1_000011" "g.140036636G>A" "3/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "" "0" "" "" "g.137142184G>A" "" "likely benign" "" "0000046888" "0" "10" "9" "140051238" "140051238" "subst" "0.263144" "00006" "GRIN1_000012" "g.140051238A>G" "94/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "incl. homozygous cases" "Unknown" "" "rs6293" "0" "" "" "g.137156786A>G" "" "benign" "" "0000046889" "0" "10" "9" "140055876" "140055876" "subst" "0.936771" "00006" "GRIN1_000013" "g.140055876G>A" "174/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "rs10747050" "0" "" "" "g.137161424G>A" "" "benign" "" "0000046959" "0" "30" "9" "140040315" "140040315" "subst" "0" "00006" "GRIN1_000003" "g.140040315G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "" "0" "" "" "g.137145863G>A" "" "likely benign" "" "0000046960" "1" "30" "9" "140051142" "140051142" "subst" "0.000550401" "00006" "GRIN1_000004" "g.140051142A>C" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.137156690A>C" "" "likely benign" "" "0000046961" "0" "30" "9" "140053183" "140053183" "subst" "0.00211925" "00006" "GRIN1_000005" "g.140053183T>G" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "" "0" "" "" "g.137158731T>G" "" "likely benign" "" "0000046962" "0" "30" "9" "140056456" "140056456" "subst" "0.00808485" "00006" "GRIN1_000006" "g.140056456G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "rs75783429" "0" "" "" "g.137162004G>A" "" "likely benign" "" "0000046963" "0" "30" "9" "140058583" "140058583" "subst" "0" "00006" "GRIN1_000007" "g.140058583G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "" "0" "" "" "g.137164131G>A" "" "likely benign" "" "0000046982" "0" "30" "9" "140056985" "140056985" "subst" "0.000348657" "00006" "GRIN1_000008" "g.140056985C>T" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "" "0" "" "" "g.137162533C>T" "" "likely benign" "" "0000046983" "0" "30" "9" "140058197" "140058197" "subst" "0.00025225" "00006" "GRIN1_000009" "g.140058197G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "" "0" "" "" "g.137163745G>A" "" "likely benign" "" "0000046984" "0" "30" "9" "140055685" "140055685" "subst" "0" "00006" "GRIN1_000010" "g.140055685G>C" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "" "0" "" "" "g.137161233G>C" "" "likely benign" "" "0000046985" "0" "30" "9" "140036636" "140036636" "subst" "0.00486496" "00006" "GRIN1_000011" "g.140036636G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "" "0" "" "" "g.137142184G>A" "" "likely benign" "" "0000046986" "0" "10" "9" "140051238" "140051238" "subst" "0.263144" "00006" "GRIN1_000012" "g.140051238A>G" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "rs6293" "0" "" "" "g.137156786A>G" "" "benign" "" "0000046987" "0" "10" "9" "140055876" "140055876" "subst" "0.936771" "00006" "GRIN1_000013" "g.140055876G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "rs10747050" "0" "" "" "g.137161424G>A" "" "benign" "" "0000067251" "3" "70" "9" "140051128" "140051128" "subst" "0" "01158" "GRIN1_000014" "g.140051128G>C" "" "{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "p.(Asp248His)" "" "Germline" "" "" "0" "" "" "g.137156676G>C" "" "likely pathogenic" "" "0000129232" "3" "70" "9" "140051128" "140051128" "subst" "0" "00121" "GRIN1_000014" "g.140051128G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.137156676G>C" "" "likely pathogenic" "" "0000163231" "0" "70" "9" "140057347" "140057347" "subst" "0" "00146" "GRIN1_000015" "g.140057347C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.137162895C>A" "" "likely pathogenic" "" "0000170304" "0" "70" "9" "140058084" "140058084" "subst" "0" "02011" "GRIN1_000016" "g.140058084A>T" "" "" "" "2470A>T (Asn824Tyr)" "" "De novo" "" "" "0" "" "" "g.137163632A>T" "" "likely pathogenic" "" "0000188263" "0" "50" "9" "140040200" "140040200" "subst" "1.63543E-5" "02192" "GRIN1_000018" "g.140040200G>A" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.137145748G>A" "" "VUS" "" "0000188294" "0" "50" "9" "140052928" "140052928" "del" "0" "02192" "GRIN1_000017" "g.140052928del" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "frameshift_deletion" "Germline" "" "" "0" "" "" "g.137158476del" "" "VUS" "" "0000188416" "0" "50" "9" "140058271" "140058271" "subst" "0" "02192" "GRIN1_000020" "g.140058271T>C" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.137163819T>C" "" "VUS" "" "0000188431" "0" "50" "9" "140057383" "140057383" "subst" "0" "02192" "GRIN1_000019" "g.140057383G>T" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.137162931G>T" "" "VUS" "" "0000255358" "0" "70" "9" "140056500" "140056500" "subst" "0" "01943" "GRIN1_000024" "g.140056500A>G" "" "" "" "GRIN1(NM_007327.3):c.1592A>G (p.K531R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137162048A>G" "" "likely pathogenic" "" "0000281148" "0" "10" "9" "140055876" "140055876" "subst" "0.936771" "02325" "GRIN1_000013" "g.140055876G>A" "" "" "" "GRIN1(NM_007327.4):c.1467+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137161424G>A" "" "benign" "" "0000281149" "0" "30" "9" "140040351" "140040351" "subst" "0" "02325" "GRIN1_000021" "g.140040351C>G" "" "" "" "GRIN1(NM_007327.4):c.567C>G (p.S189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137145899C>G" "" "likely benign" "" "0000284982" "0" "70" "9" "140057154" "140057154" "subst" "0" "02326" "GRIN1_000026" "g.140057154G>A" "" "" "" "GRIN1(NM_007327.4):c.1976G>A (p.R659Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137162702G>A" "" "likely pathogenic" "" "0000284983" "0" "70" "9" "140058097" "140058097" "subst" "0" "02326" "GRIN1_000027" "g.140058097C>T" "" "" "" "GRIN1(NM_007327.4):c.2420C>T (p.T807I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137163645C>T" "" "likely pathogenic" "" "0000288771" "0" "30" "9" "140043544" "140043544" "subst" "4.17746E-6" "01943" "GRIN1_000022" "g.140043544C>T" "" "" "" "GRIN1(NM_007327.3):c.654C>T (p.V218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137149092C>T" "" "likely benign" "" "0000332947" "0" "50" "9" "140055598" "140055598" "subst" "2.04075E-5" "01804" "GRIN1_000023" "g.140055598C>T" "" "" "" "GRIN1(NM_000832.6):c.1288C>T (p.(Pro430Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137161146C>T" "" "VUS" "" "0000332949" "0" "50" "9" "140063764" "140063764" "subst" "0.000461194" "01804" "LRRC26_000002" "g.140063764G>A" "" "" "" "LRRC26(NM_001013653.2):c.632C>T (p.(Pro211Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137169312G>A" "" "VUS" "" "0000337196" "0" "30" "9" "140051504" "140051504" "subst" "0" "02327" "GRIN1_000030" "g.140051504C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137157052C>T" "" "likely benign" "" "0000337197" "0" "10" "9" "140055876" "140055876" "subst" "0.936771" "02327" "GRIN1_000013" "g.140055876G>A" "" "" "" "GRIN1(NM_007327.4):c.1467+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137161424G>A" "" "benign" "" "0000339189" "0" "70" "9" "140061977" "140061977" "subst" "0" "02327" "GRIN1_000033" "g.140061977T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137167525T>G" "" "likely pathogenic" "" "0000339422" "0" "10" "9" "140051238" "140051238" "subst" "0.263144" "02327" "GRIN1_000012" "g.140051238A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137156786A>G" "" "benign" "" "0000339423" "0" "10" "9" "140051376" "140051376" "subst" "0.261506" "02327" "GRIN1_000029" "g.140051376G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137156924G>A" "" "benign" "" "0000343436" "0" "70" "9" "140058297" "140058297" "subst" "0" "02327" "GRIN1_000032" "g.140058297C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137163845C>T" "" "likely pathogenic" "" "0000343954" "0" "30" "9" "140040294" "140040294" "subst" "0" "02327" "GRIN1_000028" "g.140040294C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137145842C>A" "" "likely benign" "" "0000346287" "0" "90" "9" "140058246" "140058246" "subst" "4.06673E-6" "02327" "GRIN1_000031" "g.140058246G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137163794G>A" "" "pathogenic" "" "0000537541" "0" "30" "9" "140051142" "140051142" "subst" "0.000550401" "01943" "GRIN1_000004" "g.140051142A>C" "" "" "" "GRIN1(NM_007327.3):c.693A>C (p.V231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137156690A>C" "" "likely benign" "" "0000537542" "0" "30" "9" "140051247" "140051247" "subst" "0" "01804" "GRIN1_000034" "g.140051247G>A" "" "" "" "GRIN1(NM_000832.6):c.793+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137156795G>A" "" "likely benign" "" "0000537543" "0" "50" "9" "140055565" "140055565" "subst" "4.47974E-5" "01943" "GRIN1_000035" "g.140055565A>G" "" "" "" "GRIN1(NM_007327.3):c.1255A>G (p.T419A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137161113A>G" "" "VUS" "" "0000537544" "0" "30" "9" "140056421" "140056421" "subst" "0.000780407" "01943" "GRIN1_000036" "g.140056421C>T" "" "" "" "GRIN1(NM_007327.3):c.1513C>T (p.L505=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137161969C>T" "" "likely benign" "" "0000537545" "0" "50" "9" "140056474" "140056474" "subst" "6.40426E-6" "01943" "GRIN1_000037" "g.140056474G>C" "" "" "" "GRIN1(NM_007327.3):c.1566G>C (p.E522D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137162022G>C" "" "VUS" "" "0000537546" "0" "10" "9" "140056492" "140056492" "subst" "0.000879886" "01943" "GRIN1_000038" "g.140056492G>A" "" "" "" "GRIN1(NM_007327.3):c.1584G>A (p.E528=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137162040G>A" "" "benign" "" "0000537547" "0" "50" "9" "140057451" "140057451" "subst" "0" "02327" "GRIN1_000039" "g.140057451G>T" "" "" "" "GRIN1(NM_000832.6):c.2167G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137162999G>T" "" "VUS" "" "0000537549" "0" "50" "9" "140058213" "140058213" "subst" "0" "01943" "GRIN1_000041" "g.140058213G>A" "" "" "" "GRIN1(NM_007327.3):c.2446G>A (p.V816I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137163761G>A" "" "VUS" "" "0000537550" "0" "70" "9" "140058298" "140058298" "subst" "0" "01943" "GRIN1_000042" "g.140058298G>C" "" "" "" "GRIN1(NM_007327.3):c.2531G>C (p.R844P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137163846G>C" "" "likely pathogenic" "" "0000537551" "0" "30" "9" "140063439" "140063439" "subst" "0" "01804" "GRIN1_000043" "g.140063439C>T" "" "" "" "LRRC26(NM_001013653.2):c.872G>A (p.(Arg291His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137168987C>T" "" "likely benign" "" "0000612032" "0" "50" "9" "140040320" "140040320" "subst" "0" "02327" "GRIN1_000045" "g.140040320G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137145868G>A" "" "VUS" "" "0000612033" "0" "50" "9" "140043550" "140043550" "subst" "0" "01943" "GRIN1_000046" "g.140043550C>T" "" "" "" "GRIN1(NM_007327.3):c.660C>T (p.I220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137149098C>T" "" "VUS" "" "0000612034" "0" "30" "9" "140055737" "140055737" "subst" "0" "02325" "GRIN1_000048" "g.140055737C>A" "" "" "" "GRIN1(NM_007327.4):c.1340-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137161285C>A" "" "likely benign" "" "0000612035" "0" "50" "9" "140057133" "140057133" "subst" "0" "01943" "GRIN1_000049" "g.140057133C>A" "" "" "" "GRIN1(NM_007327.3):c.1955C>A (p.A652E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137162681C>A" "" "VUS" "" "0000612036" "0" "50" "9" "140063747" "140063757" "del" "0.000499424" "01804" "GRIN1_000051" "g.140063747_140063757del" "" "" "" "LRRC26(NM_001013653.2):c.639_649del (p.(Cys213TrpfsTer35))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137169295_137169305del" "" "VUS" "" "0000612037" "0" "50" "9" "140063759" "140063760" "ins" "0.000303129" "01804" "GRIN1_000052" "g.140063759_140063760insAT" "" "" "" "LRRC26(NM_001013653.2):c.636_637insAT (p.(Cys213IlefsTer26))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137169307_137169308insAT" "" "VUS" "" "0000612038" "0" "50" "9" "140063765" "140063766" "ins" "0.000231209" "01804" "GRIN1_000053" "g.140063765_140063766insTT" "" "" "" "LRRC26(NM_001013653.2):c.630_631insAA (p.(Pro211AsnfsTer28))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137169313_137169314insTT" "" "VUS" "" "0000622232" "0" "30" "9" "140051385" "140051385" "subst" "2.93518E-5" "01943" "GRIN1_000047" "g.140051385G>A" "" "" "" "GRIN1(NM_007327.3):c.864G>A (p.V288=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137156933G>A" "" "likely benign" "" "0000622233" "0" "50" "9" "140057359" "140057359" "subst" "0" "02325" "GRIN1_000050" "g.140057359A>G" "" "" "" "GRIN1(NM_007327.4):c.2075A>G (p.Y692C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137162907A>G" "" "VUS" "" "0000652674" "1" "10" "9" "140056456" "140056456" "subst" "0.00808485" "03575" "GRIN1_000006" "g.140056456G>A" "187/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "187 heterozygous; {DB:CLININrs75783429}" "Germline" "" "rs75783429" "0" "" "" "g.137162004G>A" "" "benign" "" "0000656312" "0" "50" "9" "140043504" "140043504" "subst" "8.58797E-5" "02325" "GRIN1_000054" "g.140043504C>T" "" "" "" "GRIN1(NM_007327.4):c.614C>T (p.T205M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137149052C>T" "" "VUS" "" "0000656313" "0" "30" "9" "140057663" "140057663" "subst" "3.25725E-5" "01943" "GRIN1_000055" "g.140057663C>T" "" "" "" "GRIN1(NM_007327.3):c.2214C>T (p.F738=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137163211C>T" "" "likely benign" "" "0000660574" "0" "90" "9" "140056661" "140056661" "subst" "0" "00006" "GRIN1_000056" "g.140056661C>G" "" "{PMID:Redin 2014:25167861}" "" "" "" "De novo" "" "" "0" "" "" "g.137162209C>G" "" "pathogenic (dominant)" "" "0000667520" "0" "90" "9" "140056636" "140056636" "subst" "0" "00006" "GRIN1_000057" "g.140056636A>G" "" "{PMID:Helbig 2016:26795593}" "" "" "" "De novo" "" "" "0" "" "" "g.137162184A>G" "" "pathogenic (dominant)" "ACMG" "0000667521" "0" "70" "9" "140058120" "140058120" "subst" "0" "00006" "GRIN1_000058" "g.140058120G>A" "" "{PMID:Helbig 2016:26795593}" "" "" "" "De novo" "" "" "0" "" "" "g.137163668G>A" "" "likely pathogenic (dominant)" "ACMG" "0000670057" "3" "10" "9" "140056456" "140056456" "subst" "0.00808485" "03575" "GRIN1_000006" "g.140056456G>A" "9/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 homozygous; {DB:CLININrs75783429}" "Germline" "" "rs75783429" "0" "" "" "g.137162004G>A" "" "benign" "" "0000678623" "0" "50" "9" "140069431" "140069431" "subst" "0" "01943" "ANAPC2_000004" "g.140069431G>A" "" "" "" "ANAPC2(NM_013366.4):c.2432C>T (p.S811L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000687373" "3" "90" "9" "140043539" "140043539" "subst" "0" "00006" "GRIN1_000059" "g.140043539C>T" "" "{PMID:Lemke 2016:27164704}" "" "" "copied from {DB:GRIN}" "Germline" "" "" "0" "" "" "g.137149087C>T" "" "pathogenic" "" "0000687374" "3" "90" "9" "140043539" "140043539" "subst" "0" "00006" "GRIN1_000059" "g.140043539C>T" "" "{PMID:Lemke 2016:27164704}" "" "" "copied from {DB:GRIN}" "Germline" "" "" "0" "" "" "g.137149087C>T" "" "pathogenic" "" "0000687375" "0" "90" "9" "140056636" "140056636" "subst" "0" "00006" "GRIN1_000060" "g.140056636A>C" "" "{PMID:Lemke 2016:27164704}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.137162184A>C" "" "pathogenic" "" "0000687376" "0" "90" "9" "140057305" "140057305" "subst" "0" "00006" "GRIN1_000076" "g.140057305A>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.137162853A>T" "" "pathogenic" "" "0000687572" "0" "90" "9" "140058120" "140058120" "subst" "0" "00006" "GRIN1_000058" "g.140058120G>A" "" "{PMID:Ohba 2015:25864721}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.137163668G>A" "" "pathogenic" "" "0000687573" "0" "90" "9" "140058120" "140058120" "subst" "0" "00006" "GRIN1_000058" "g.140058120G>A" "" "{PMID:Lemke 2016:27164704}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.137163668G>A" "" "pathogenic" "" "0000687574" "0" "90" "9" "140056647" "140056647" "subst" "0" "00006" "GRIN1_000062" "g.140056647C>A" "" "{PMID:Lemke 2016:27164704}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.137162195C>A" "" "pathogenic" "" "0000687575" "0" "90" "9" "140056647" "140056647" "subst" "0" "00006" "GRIN1_000062" "g.140056647C>A" "" "{PMID:Ohba 2015:25864721}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.137162195C>A" "" "pathogenic" "" "0000687576" "0" "90" "9" "140056956" "140056956" "subst" "0" "00006" "GRIN1_000065" "g.140056956G>C" "" "{PMID:Lemke 2016:27164704}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.137162504G>C" "" "pathogenic" "" "0000687577" "0" "90" "9" "140056962" "140056962" "subst" "0" "00006" "GRIN1_000067" "g.140056962G>A" "" "{PMID:Lemke 2016:27164704}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.137162510G>A" "" "pathogenic" "" "0000687578" "0" "90" "9" "140057101" "140057101" "subst" "0" "00006" "GRIN1_000069" "g.140057101G>A" "" "{PMID:Ohba 2015:25864721}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.137162649G>A" "" "pathogenic" "" "0000687579" "0" "90" "9" "140057111" "140057111" "subst" "0" "00006" "GRIN1_000070" "g.140057111G>T" "" "{PMID:Lemke 2016:27164704}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.137162659G>T" "" "pathogenic" "" "0000687580" "0" "90" "9" "140057118" "140057118" "subst" "0" "00006" "GRIN1_000071" "g.140057118A>C" "" "{PMID:Epi4K 2013:23934111}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.137162666A>C" "" "pathogenic" "" "0000687581" "0" "90" "9" "140057128" "140057128" "subst" "0" "00006" "GRIN1_000074" "g.140057128C>G" "" "{PMID:Ohba 2015:25864721}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.137162676C>G" "" "pathogenic" "" "0000687582" "0" "90" "9" "140058120" "140058120" "subst" "0" "00006" "GRIN1_000058" "g.140058120G>A" "" "{PMID:Lemke 2016:27164704}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.137163668G>A" "" "pathogenic" "" "0000687583" "0" "90" "9" "140058216" "140058216" "subst" "0" "00006" "GRIN1_000080" "g.140058216T>C" "" "{PMID:Lemke 2016:27164704}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.137163764T>C" "" "pathogenic" "" "0000687584" "0" "90" "9" "140058246" "140058246" "subst" "4.06673E-6" "00006" "GRIN1_000031" "g.140058246G>A" "" "{PMID:Lemke 2016:27164704}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.137163794G>A" "" "pathogenic" "" "0000687585" "0" "90" "9" "140058246" "140058246" "subst" "4.06673E-6" "00006" "GRIN1_000031" "g.140058246G>A" "" "{PMID:Lemke 2016:27164704}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.137163794G>A" "" "pathogenic" "" "0000687586" "0" "90" "9" "140058246" "140058246" "subst" "4.06673E-6" "00006" "GRIN1_000031" "g.140058246G>A" "" "{PMID:Lemke 2016:27164704}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.137163794G>A" "" "pathogenic" "" "0000687587" "0" "90" "9" "140058058" "140058058" "subst" "0" "00006" "GRIN1_000078" "g.140058058G>A" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.137163606G>A" "" "pathogenic" "" "0000687588" "0" "90" "9" "140058297" "140058297" "subst" "0" "00006" "GRIN1_000032" "g.140058297C>T" "" "{PMID:Lemke 2016:27164704}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.137163845C>T" "" "pathogenic" "" "0000687589" "0" "90" "9" "140058297" "140058297" "subst" "0" "00006" "GRIN1_000032" "g.140058297C>T" "" "{PMID:Lemke 2016:27164704}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.137163845C>T" "" "pathogenic" "" "0000687659" "3" "90" "9" "140056657" "140056657" "subst" "0" "00006" "GRIN1_000063" "g.140056657C>T" "" "{PMID:Lemke 2016:27164704}" "" "" "copied from {DB:GRIN}" "Germline" "" "" "0" "" "" "g.137162205C>T" "" "pathogenic" "" "0000687660" "0" "90" "9" "140056657" "140056657" "subst" "0" "00006" "GRIN1_000063" "g.140056657C>T" "" "{PMID:Lemke 2016:27164704}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline" "" "" "0" "" "" "g.137162205C>T" "" "pathogenic" "" "0000687661" "0" "90" "9" "140056657" "140056657" "subst" "0" "00006" "GRIN1_000063" "g.140056657C>T" "" "{PMID:Lemke 2016:27164704}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline" "" "" "0" "" "" "g.137162205C>T" "" "pathogenic" "" "0000687662" "0" "90" "9" "140058211" "140058211" "subst" "0" "00006" "GRIN1_000079" "g.140058211G>T" "" "{PMID:Lemke 2016:27164704}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.137163759G>T" "" "pathogenic" "" "0000687663" "0" "90" "9" "140058216" "140058216" "subst" "0" "00006" "GRIN1_000080" "g.140058216T>C" "" "{PMID:Lemke 2016:27164704}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.137163764T>C" "" "pathogenic" "" "0000687664" "0" "90" "9" "140057153" "140057153" "subst" "0" "00006" "GRIN1_000075" "g.140057153C>T" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.137162701C>T" "" "pathogenic" "" "0000687665" "0" "90" "9" "140057118" "140057118" "subst" "0" "00006" "GRIN1_000072" "g.140057118A>G" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.137162666A>G" "" "pathogenic" "" "0000687666" "0" "90" "9" "140058042" "140058042" "subst" "0" "00006" "GRIN1_000077" "g.140058042G>A" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.137163590G>A" "" "pathogenic" "" "0000687667" "0" "90" "9" "140056643" "140056643" "subst" "0" "00006" "GRIN1_000061" "g.140056643T>C" "" "{PMID:Retterer 2015:26633542}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.137162191T>C" "" "pathogenic" "" "0000687673" "0" "90" "9" "140058246" "140058246" "subst" "4.06673E-6" "00006" "GRIN1_000031" "g.140058246G>A" "" "{PMID:Retterer 2015:26633542}" "" "" "" "Unknown" "" "" "0" "" "" "g.137163794G>A" "" "pathogenic" "" "0000687674" "3" "90" "9" "140051128" "140051128" "subst" "0" "00006" "GRIN1_000014" "g.140051128G>C" "" "{PMID:Rossi 2017:28051072}" "" "" "copied from {DB:GRIN}" "Germline" "" "" "0" "" "" "g.137156676G>C" "" "pathogenic" "" "0000687675" "3" "90" "9" "140051128" "140051128" "subst" "0" "00006" "GRIN1_000014" "g.140051128G>C" "" "{PMID:Rossi 2017:28051072}" "" "" "copied from {DB:GRIN}" "Germline" "" "" "0" "" "" "g.137156676G>C" "" "pathogenic" "" "0000687677" "1" "90" "9" "140057091" "140057091" "subst" "0" "00006" "GRIN1_000068" "g.140057091G>C" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.137162639G>C" "" "pathogenic" "" "0000687685" "1" "90" "9" "0" "0" "" "0" "00006" "PTCH1_000000" "g.?" "" "Ortega-Moreno" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000687687" "1" "90" "9" "140057127" "140057127" "subst" "0" "00006" "GRIN1_000073" "g.140057127A>T" "" "" "" "Asn650Ile" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.137162675A>T" "" "pathogenic" "" "0000687688" "1" "90" "9" "140057091" "140057091" "subst" "0" "00006" "GRIN1_000068" "g.140057091G>C" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Unknown" "" "" "0" "" "" "g.137162639G>C" "" "pathogenic" "" "0000687693" "1" "90" "9" "140056667" "140056667" "subst" "0" "00006" "GRIN1_000064" "g.140056667A>G" "" "{PMID:Tan 2017:28759686}" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.137162215A>G" "" "pathogenic" "" "0000687694" "1" "90" "9" "140056958" "140056963" "dup" "0" "00006" "GRIN1_000066" "g.140056958_140056963dup" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.137162506_137162511dup" "" "pathogenic" "" "0000687695" "1" "90" "9" "140056667" "140056667" "subst" "0" "00006" "GRIN1_000064" "g.140056667A>G" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.137162215A>G" "" "pathogenic" "" "0000687696" "1" "90" "9" "140058256" "140058256" "subst" "0" "00006" "GRIN1_000081" "g.140058256T>C" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.137163804T>C" "" "pathogenic" "" "0000687700" "1" "90" "9" "140057347" "140057347" "subst" "0" "00006" "GRIN1_000015" "g.140057347C>A" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "De novo" "" "" "0" "" "" "g.137162895C>A" "" "pathogenic" "" "0000687701" "1" "90" "9" "0" "0" "" "0" "00006" "PTCH1_000000" "g.?" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000687712" "1" "90" "9" "140058120" "140058120" "subst" "0" "00006" "GRIN1_000058" "g.140058120G>A" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.137163668G>A" "" "pathogenic" "" "0000687713" "1" "90" "9" "140056634" "140056634" "subst" "0" "00006" "GRIN1_000025" "g.140056634G>A" "" "" "" "" "copied from {DB:GRIN}, check paper for 2nd variant" "Germline/De novo (untested)" "" "" "0" "" "" "g.137162182G>A" "" "pathogenic" "" "0000690486" "0" "30" "9" "140036470" "140036470" "subst" "0.000129943" "01943" "GRIN1_000082" "g.140036470C>T" "" "" "" "GRIN1(NM_007327.3):c.264C>T (p.Y88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690487" "0" "70" "9" "140057746" "140057746" "subst" "0" "01943" "GRIN1_000083" "g.140057746G>A" "" "" "" "GRIN1(NM_007327.3):c.2297G>A (p.S766N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000698191" "0" "90" "9" "140058218" "140058218" "subst" "0" "00006" "GRIN1_000084" "g.140058218C>A" "" "{PMID:Zhu 2015:25590979}" "" "2514C>A" "" "De novo" "" "" "0" "" "" "g.137163766C>A" "" "pathogenic (dominant)" "" "0000710203" "0" "90" "9" "140058091" "140058091" "subst" "0" "00006" "GRIN1_000085" "g.140058091C>T" "" "{PMID:Hong 2020:33333793}" "" "" "ACMG PS2, PM1, PM2, PP3" "De novo" "" "" "0" "" "" "g.137163639C>T" "" "pathogenic" "" "0000722423" "0" "30" "9" "140051229" "140051229" "subst" "0.000103139" "01943" "GRIN1_000086" "g.140051229C>T" "" "" "" "GRIN1(NM_007327.3):c.780C>T (p.R260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722424" "0" "50" "9" "140055562" "140055562" "subst" "0" "01943" "GRIN1_000087" "g.140055562G>A" "" "" "" "GRIN1(NM_007327.3):c.1252G>A (p.G418R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722425" "0" "70" "9" "140056634" "140056634" "subst" "0" "02329" "GRIN1_000025" "g.140056634G>A" "" "" "" "GRIN1(NM_007327.4):c.1643G>A (p.R548Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000722426" "0" "70" "9" "140056658" "140056658" "subst" "0" "02327" "GRIN1_000088" "g.140056658A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000722427" "0" "70" "9" "140057658" "140057658" "subst" "0" "02329" "GRIN1_000040" "g.140057658G>A" "" "" "" "GRIN1(NM_007327.4):c.2209G>A (p.E737K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000722428" "0" "30" "9" "140058376" "140058376" "subst" "1.23195E-5" "02326" "GRIN1_000089" "g.140058376G>A" "" "" "" "GRIN1(NM_007327.4):c.2589+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804014" "0" "30" "9" "140056978" "140056978" "subst" "0" "01943" "GRIN1_000090" "g.140056978C>T" "" "" "" "GRIN1(NM_007327.3):c.1864+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804015" "0" "70" "9" "140057154" "140057154" "subst" "0" "02327" "GRIN1_000026" "g.140057154G>A" "" "" "" "GRIN1(NM_007327.4):c.1976G>A (p.R659Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000852197" "0" "50" "9" "140052907" "140052907" "subst" "9.75872E-5" "01943" "GRIN1_000091" "g.140052907G>T" "" "" "" "GRIN1(NM_007327.3):c.1045G>T (p.A349S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000871145" "0" "70" "9" "140053150" "140053150" "subst" "0" "00006" "GRIN1_000092" "g.140053150A>C" "" "{PMID:Halvardson 2016:27334371}" "" "A1191C (R397S)" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000888754" "0" "70" "9" "140056426" "140056426" "del" "0" "02327" "GRIN1_000093" "g.140056426del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000888755" "0" "70" "9" "140057090" "140057090" "subst" "0" "02327" "GRIN1_000094" "g.140057090G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000913131" "0" "50" "9" "140051473" "140051473" "subst" "0" "02325" "GRIN1_000095" "g.140051473G>C" "" "" "" "GRIN1(NM_007327.3):c.952G>C (p.(Gly318Arg)), GRIN1(NM_007327.4):c.952G>C (p.G318R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000918152" "0" "90" "9" "140056649" "140056649" "subst" "0" "00006" "GRIN1_000097" "g.140056649C>T" "" "{PMID:Brock 2023:35393335}" "" "" "ACMG PM2, PP2, PP3, PS2_str, PM1" "De novo" "" "" "0" "" "" "g.137162197C>T" "" "pathogenic (dominant)" "ACMG" "0000918153" "0" "70" "9" "140057150" "140057150" "subst" "0" "00006" "GRIN1_000099" "g.140057150G>T" "" "{PMID:Brock 2023:35393335}" "" "" "ACMG PM2, PP2, PP3, PS2_mod, PM1" "De novo" "" "" "0" "" "" "g.137162698G>T" "" "likely pathogenic (dominant)" "ACMG" "0000918154" "0" "70" "9" "140057135" "140057135" "subst" "0" "00006" "GRIN1_000098" "g.140057135G>A" "" "{PMID:Brock 2023:35393335}" "" "" "ACMG PM2, PP2, PP3, PS2_mod, PM1" "De novo" "" "" "0" "" "" "g.137162683G>A" "" "likely pathogenic (dominant)" "ACMG" "0000918155" "0" "70" "9" "140057680" "140057680" "subst" "0" "00006" "GRIN1_000100" "g.140057680G>A" "" "{PMID:Brock 2023:35393335}" "" "" "ACMG PM2, PP2, PP3, PS2_mod, PM1, PS3_mod" "De novo" "" "" "0" "" "" "g.137163228G>A" "" "likely pathogenic (dominant)" "ACMG" "0000918159" "3" "90" "9" "140055823" "140055823" "subst" "0" "00006" "GRIN1_000096" "g.140055823C>A" "" "{PMID:Brock 2023:35393335}" "" "" "ACMG PM2, PVS1, PM3_sup" "Germline" "" "" "0" "" "" "g.137161371C>A" "" "pathogenic" "ACMG" "0000960252" "0" "70" "9" "140056956" "140056956" "subst" "0" "00006" "GRIN1_000065" "g.140056956G>C" "" "{PMID:Poli 2024:38177409}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.137162504G>C" "981271" "likely pathogenic (dominant)" "" "0000965321" "0" "50" "9" "140057327" "140057327" "subst" "0" "02327" "GRIN1_000101" "g.140057327C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978589" "0" "50" "9" "140040308" "140040308" "subst" "3.39498E-5" "01804" "GRIN1_000102" "g.140040308C>T" "" "" "" "GRIN1(NM_007327.3):c.524C>T (p.(Ala175Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997718" "0" "50" "9" "140051128" "140051128" "subst" "0" "01804" "GRIN1_000014" "g.140051128G>C" "" "" "" "GRIN1(NM_007327.3):c.679G>C (p.(Asp227His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997719" "0" "50" "9" "140051473" "140051473" "subst" "0" "01804" "GRIN1_000095" "g.140051473G>C" "" "" "" "GRIN1(NM_007327.3):c.952G>C (p.(Gly318Arg)), GRIN1(NM_007327.4):c.952G>C (p.G318R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997720" "0" "30" "9" "140053080" "140053080" "subst" "1.22046E-5" "01804" "GRIN1_000103" "g.140053080C>T" "" "" "" "GRIN1(NM_007327.3):c.1121C>T (p.(Pro374Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997721" "0" "70" "9" "140057156" "140057156" "subst" "0" "01804" "GRIN1_000104" "g.140057156C>T" "" "" "" "GRIN1(NM_007327.3):c.1978C>T (p.(Pro660Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000997722" "0" "50" "9" "140069452" "140069452" "subst" "2.60071E-5" "01804" "ANAPC2_000007" "g.140069452C>T" "" "" "" "ANAPC2(NM_013366.3):c.2411G>A (p.(Arg804Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037369" "0" "30" "9" "140039083" "140039083" "subst" "0" "01804" "GRIN1_000105" "g.140039083T>A" "" "" "" "GRIN1(NM_007327.4):c.394-1095T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037370" "0" "50" "9" "140040250" "140040250" "subst" "0" "01804" "GRIN1_000106" "g.140040250C>G" "" "" "" "GRIN1(NM_007327.4):c.466C>G (p.(Arg156Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037371" "0" "50" "9" "140040304" "140040304" "subst" "0" "01804" "GRIN1_000107" "g.140040304C>G" "" "" "" "GRIN1(NM_007327.4):c.520C>G (p.(Arg174Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037372" "0" "50" "9" "140062280" "140062280" "subst" "2.46093E-5" "01804" "GRIN1_000108" "g.140062280A>G" "" "" "" "GRIN1(NM_000832.7):c.2644A>G (p.(Ser882Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes GRIN1 ## Count = 152 "{{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}}" "0000046859" "00008940" "90" "1984" "0" "1984" "0" "c.1984G>A" "r.(?)" "p.(Glu662Lys)" "14" "0000046860" "00008940" "90" "1679" "0" "1681" "0" "c.1679_1681dup" "r.(?)" "p.(Ser560dup)" "12" "0000046861" "00008940" "90" "1984" "0" "1984" "0" "c.1984G>A" "r.(?)" "p.Glu662Lys" "14" "0000046862" "00008940" "90" "1679" "0" "1681" "0" "c.1679_1681dup" "r.(?)" "p.Ser560dup" "12" "0000046884" "00008940" "30" "1864" "17" "1864" "17" "c.1864+17C>T" "r.(=)" "p.(=)" "i" "0000046885" "00008940" "30" "2444" "-14" "2444" "-14" "c.2444-14G>A" "r.(=)" "p.(=)" "i" "0000046886" "00008940" "30" "1339" "36" "1339" "36" "c.1339+36G>C" "r.(=)" "p.(=)" "i" "0000046887" "00008940" "30" "393" "37" "393" "37" "c.393+37G>A" "r.(=)" "p.(=)" "i" "0000046888" "00008940" "10" "789" "0" "789" "0" "c.789A>G" "r.(?)" "p.(Pro263=)" "" "0000046889" "00008940" "10" "1467" "8" "1467" "8" "c.1467+8G>A" "r.(=)" "p.(=)" "i" "0000046959" "00008940" "30" "531" "0" "531" "0" "c.531G>A" "r.(?)" "p.(Gln177=)" "" "0000046960" "00008940" "30" "693" "0" "693" "0" "c.693A>C" "r.(?)" "p.(Val231=)" "" "0000046961" "00008940" "30" "1197" "27" "1197" "27" "c.1197+27T>G" "r.(=)" "p.(=)" "I" "0000046962" "00008940" "30" "1548" "0" "1548" "0" "c.1548G>A" "r.(?)" "p.(Pro516=)" "" "0000046963" "00008940" "30" "2589" "227" "2589" "227" "c.2589+227G>A" "r.(=)" "p.(=)" "I" "0000046982" "00008940" "30" "1864" "17" "1864" "17" "c.1864+17C>T" "r.(=)" "p.(=)" "i" "0000046983" "00008940" "30" "2444" "-14" "2444" "-14" "c.2444-14G>A" "r.(=)" "p.(=)" "i" "0000046984" "00008940" "30" "1339" "36" "1339" "36" "c.1339+36G>C" "r.(=)" "p.(=)" "i" "0000046985" "00008940" "30" "393" "37" "393" "37" "c.393+37G>A" "r.(=)" "p.(=)" "i" "0000046986" "00008940" "10" "789" "0" "789" "0" "c.789A>G" "r.(?)" "p.(Pro263=)" "" "0000046987" "00008940" "10" "1467" "8" "1467" "8" "c.1467+8G>A" "r.(=)" "p.(=)" "i" "0000067251" "00008940" "70" "679" "0" "679" "0" "c.679G>C" "r.(?)" "p.(Asp227His)" "5" "0000129232" "00008940" "70" "679" "0" "679" "0" "c.679G>C" "r.(?)" "p.(Asp227His)" "5" "0000163231" "00008940" "70" "2063" "0" "2063" "0" "c.2063C>A" "r.(?)" "p.(Ser688Tyr)" "15" "0000170304" "00008940" "70" "2407" "0" "2407" "0" "c.2407A>T" "r.(?)" "p.(Asn803Tyr)" "18" "0000188263" "00008940" "00" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.(Arg139His)" "" "0000188294" "00008940" "00" "1066" "0" "1066" "0" "c.1066del" "r.(?)" "p.(Leu356Cysfs*43)" "" "0000188416" "00008940" "00" "2504" "0" "2504" "0" "c.2504T>C" "r.(?)" "p.(Ile835Thr)" "" "0000188431" "00008940" "00" "2099" "0" "2099" "0" "c.2099G>T" "r.(?)" "p.(Ser700Ile)" "" "0000255358" "00008940" "70" "1592" "0" "1592" "0" "c.1592A>G" "r.(?)" "p.(Lys531Arg)" "" "0000281148" "00008940" "10" "1467" "8" "1467" "8" "c.1467+8G>A" "r.(=)" "p.(=)" "" "0000281149" "00008940" "30" "567" "0" "567" "0" "c.567C>G" "r.(?)" "p.(Ser189=)" "" "0000284982" "00008940" "70" "1976" "0" "1976" "0" "c.1976G>A" "r.(?)" "p.(Arg659Gln)" "" "0000284983" "00008940" "70" "2420" "0" "2420" "0" "c.2420C>T" "r.(?)" "p.(Thr807Ile)" "" "0000288771" "00008940" "30" "654" "0" "654" "0" "c.654C>T" "r.(?)" "p.(Val218=)" "" "0000332947" "00008940" "50" "1288" "0" "1288" "0" "c.1288C>T" "r.(?)" "p.(Pro430Ser)" "" "0000332949" "00008940" "50" "4602" "0" "4602" "0" "c.*1785G>A" "r.(=)" "p.(=)" "" "0000337196" "00008940" "30" "968" "15" "968" "15" "c.968+15C>T" "r.(=)" "p.(=)" "" "0000337197" "00008940" "10" "1467" "8" "1467" "8" "c.1467+8G>A" "r.(=)" "p.(=)" "" "0000339189" "00008940" "70" "2815" "0" "2815" "0" "c.2815T>G" "r.(?)" "p.(Ter939GlyextTer71)" "" "0000339422" "00008940" "10" "789" "0" "789" "0" "c.789A>G" "r.(?)" "p.(Pro263=)" "" "0000339423" "00008940" "10" "855" "0" "855" "0" "c.855G>A" "r.(?)" "p.(Val285=)" "" "0000343436" "00008940" "70" "2530" "0" "2530" "0" "c.2530C>T" "r.(?)" "p.(Arg844Cys)" "" "0000343954" "00008940" "30" "510" "0" "510" "0" "c.510C>A" "r.(?)" "p.(Asp170Glu)" "" "0000346287" "00008940" "90" "2479" "0" "2479" "0" "c.2479G>A" "r.(?)" "p.(Gly827Arg)" "" "0000537541" "00008940" "30" "693" "0" "693" "0" "c.693A>C" "r.(?)" "p.(Val231=)" "" "0000537542" "00008940" "30" "793" "5" "793" "5" "c.793+5G>A" "r.spl?" "p.?" "" "0000537543" "00008940" "50" "1255" "0" "1255" "0" "c.1255A>G" "r.(?)" "p.(Thr419Ala)" "" "0000537544" "00008940" "30" "1513" "0" "1513" "0" "c.1513C>T" "r.(?)" "p.(Leu505=)" "" "0000537545" "00008940" "50" "1566" "0" "1566" "0" "c.1566G>C" "r.(?)" "p.(Glu522Asp)" "" "0000537546" "00008940" "10" "1584" "0" "1584" "0" "c.1584G>A" "r.(?)" "p.(Glu528=)" "" "0000537547" "00008940" "50" "2167" "0" "2167" "0" "c.2167G>T" "r.(?)" "p.(Asp723Tyr)" "" "0000537549" "00008940" "50" "2446" "0" "2446" "0" "c.2446G>A" "r.(?)" "p.(Val816Ile)" "" "0000537550" "00008940" "70" "2531" "0" "2531" "0" "c.2531G>C" "r.(?)" "p.(Arg844Pro)" "" "0000537551" "00008940" "30" "4277" "0" "4277" "0" "c.*1460C>T" "r.(=)" "p.(=)" "" "0000612032" "00008940" "50" "536" "0" "536" "0" "c.536G>A" "r.(?)" "p.(Arg179His)" "" "0000612033" "00008940" "50" "660" "0" "660" "0" "c.660C>T" "r.(?)" "p.(Ile220=)" "" "0000612034" "00008940" "30" "1340" "-4" "1340" "-4" "c.1340-4C>A" "r.spl?" "p.?" "" "0000612035" "00008940" "50" "1955" "0" "1955" "0" "c.1955C>A" "r.(?)" "p.(Ala652Glu)" "" "0000612036" "00008940" "50" "4585" "0" "4595" "0" "c.*1768_*1778del" "r.(=)" "p.(=)" "" "0000612037" "00008940" "50" "4597" "0" "4598" "0" "c.*1780_*1781insAT" "r.(=)" "p.(=)" "" "0000612038" "00008940" "50" "4603" "0" "4604" "0" "c.*1786_*1787insTT" "r.(=)" "p.(=)" "" "0000622232" "00008940" "30" "864" "0" "864" "0" "c.864G>A" "r.(?)" "p.(Val288=)" "" "0000622233" "00008940" "50" "2075" "0" "2075" "0" "c.2075A>G" "r.(?)" "p.(Tyr692Cys)" "" "0000652674" "00008940" "10" "1548" "0" "1548" "0" "c.1548G>A" "r.(=)" "p.(=)" "" "0000656312" "00008940" "50" "614" "0" "614" "0" "c.614C>T" "r.(?)" "p.(Thr205Met)" "" "0000656313" "00008940" "30" "2214" "0" "2214" "0" "c.2214C>T" "r.(?)" "p.(Phe738=)" "" "0000660574" "00008940" "90" "1670" "0" "1670" "0" "c.1670C>G" "r.(?)" "p.(Pro557Arg)" "" "0000667520" "00008940" "90" "1645" "0" "1645" "0" "c.1645A>G" "r.(?)" "p.(Ser549Gly)" "" "0000667521" "00008940" "70" "2443" "0" "2443" "0" "c.2443G>A" "r.(?)" "p.(Gly815Arg)" "" "0000670057" "00008940" "10" "1548" "0" "1548" "0" "c.1548G>A" "r.(=)" "p.(=)" "" "0000678623" "00008940" "50" "10269" "0" "10269" "0" "c.*7452G>A" "r.(=)" "p.(=)" "" "0000687373" "00008940" "90" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Arg217Trp)" "" "0000687374" "00008940" "90" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Arg217Trp)" "" "0000687375" "00008940" "90" "1645" "0" "1645" "0" "c.1645A>C" "r.(?)" "p.(Ser549Arg)" "" "0000687376" "00008940" "90" "2021" "0" "2021" "0" "c.2021A>T" "r.(?)" "p.(Asn674Ile)" "" "0000687572" "00008940" "90" "2443" "0" "2443" "0" "c.2443G>A" "r.(?)" "p.(Gly815Arg)" "" "0000687573" "00008940" "90" "2443" "0" "2443" "0" "c.2443G>A" "r.(?)" "p.(Gly815Arg)" "" "0000687574" "00008940" "90" "1656" "0" "1656" "0" "c.1656C>A" "r.(?)" "p.(Asp552Glu)" "" "0000687575" "00008940" "90" "1656" "0" "1656" "0" "c.1656C>A" "r.(?)" "p.(Asp552Glu)" "" "0000687576" "00008940" "90" "1852" "0" "1852" "0" "c.1852G>C" "r.(?)" "p.(Gly618Arg)" "" "0000687577" "00008940" "90" "1858" "0" "1858" "0" "c.1858G>A" "r.(?)" "p.(Gly620Arg)" "" "0000687578" "00008940" "90" "1923" "0" "1923" "0" "c.1923G>A" "r.(?)" "p.(Met641Ile)" "" "0000687579" "00008940" "90" "1933" "0" "1933" "0" "c.1933G>T" "r.(?)" "p.(Ala645Ser)" "" "0000687580" "00008940" "90" "1940" "0" "1940" "0" "c.1940A>C" "r.(?)" "p.(Tyr647Ser)" "" "0000687581" "00008940" "90" "1950" "0" "1950" "0" "c.1950C>G" "r.(?)" "p.(Asn650Lys)" "" "0000687582" "00008940" "90" "2443" "0" "2443" "0" "c.2443G>A" "r.(?)" "p.(Gly815Arg)" "" "0000687583" "00008940" "90" "2449" "0" "2449" "0" "c.2449T>C" "r.(?)" "p.(Phe817Leu)" "" "0000687584" "00008940" "90" "2479" "0" "2479" "0" "c.2479G>A" "r.(?)" "p.(Gly827Arg)" "" "0000687585" "00008940" "90" "2479" "0" "2479" "0" "c.2479G>A" "r.(?)" "p.(Gly827Arg)" "" "0000687586" "00008940" "90" "2479" "0" "2479" "0" "c.2479G>A" "r.(?)" "p.(Gly827Arg)" "" "0000687587" "00008940" "90" "2381" "0" "2381" "0" "c.2381G>A" "r.(?)" "p.(Arg794Gln)" "" "0000687588" "00008940" "90" "2530" "0" "2530" "0" "c.2530C>T" "r.(?)" "p.(Arg844Cys)" "" "0000687589" "00008940" "90" "2530" "0" "2530" "0" "c.2530C>T" "r.(?)" "p.(Arg844Cys)" "" "0000687659" "00008940" "90" "1666" "0" "1666" "0" "c.1666C>T" "r.(?)" "p.(Gln556*)" "" "0000687660" "00008940" "90" "1666" "0" "1666" "0" "c.1666C>T" "r.(?)" "p.(Gln556*)" "" "0000687661" "00008940" "90" "1666" "0" "1666" "0" "c.1666C>T" "r.(?)" "p.(Gln556*)" "" "0000687662" "00008940" "90" "2444" "0" "2444" "0" "c.2444G>T" "r.(?)" "p.(Gly815Val)" "" "0000687663" "00008940" "90" "2449" "0" "2449" "0" "c.2449T>C" "r.(?)" "p.(Phe817Leu)" "" "0000687664" "00008940" "90" "1975" "0" "1975" "0" "c.1975C>T" "r.(?)" "p.(Arg659Trp)" "" "0000687665" "00008940" "90" "1940" "0" "1940" "0" "c.1940A>G" "r.(?)" "p.(Tyr647Cys)" "" "0000687666" "00008940" "90" "2365" "0" "2365" "0" "c.2365G>A" "r.(?)" "p.(Asp789Asn)" "" "0000687667" "00008940" "90" "1652" "0" "1652" "0" "c.1652T>C" "r.(?)" "p.(Leu551Pro)" "" "0000687673" "00008940" "90" "2479" "0" "2479" "0" "c.2479G>A" "r.(?)" "p.(Gly827Arg)" "" "0000687674" "00008940" "90" "679" "0" "679" "0" "c.679G>C" "r.(?)" "p.(Asp227His)" "" "0000687675" "00008940" "90" "679" "0" "679" "0" "c.679G>C" "r.(?)" "p.(Asp227His)" "" "0000687677" "00008940" "90" "1913" "0" "1913" "0" "c.1913G>C" "r.(?)" "p.(Gly638Ala)" "" "0000687685" "00008940" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000687687" "00008940" "90" "1949" "0" "1949" "0" "c.1949A>T" "r.(?)" "p.(Asn650Ile)" "" "0000687688" "00008940" "90" "1913" "0" "1913" "0" "c.1913G>C" "r.(?)" "p.(Gly638Ala)" "" "0000687693" "00008940" "90" "1676" "0" "1676" "0" "c.1676A>G" "r.(?)" "p.(Gln559Arg)" "" "0000687694" "00008940" "90" "1854" "0" "1859" "0" "c.1854_1859dup" "r.(?)" "p.(Ile619_Gly620dup)" "" "0000687695" "00008940" "90" "1676" "0" "1676" "0" "c.1676A>G" "r.(?)" "p.(Gln559Arg)" "" "0000687696" "00008940" "90" "2489" "0" "2489" "0" "c.2489T>C" "r.(?)" "p.(Leu830Pro)" "" "0000687700" "00008940" "90" "2063" "0" "2063" "0" "c.2063C>A" "r.(?)" "p.(Ser688Tyr)" "" "0000687701" "00008940" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000687712" "00008940" "90" "2443" "0" "2443" "0" "c.2443G>A" "r.(?)" "p.(Gly815Arg)" "" "0000687713" "00008940" "90" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Arg548Gln)" "" "0000690486" "00008940" "30" "264" "0" "264" "0" "c.264C>T" "r.(?)" "p.(Tyr88=)" "" "0000690487" "00008940" "70" "2297" "0" "2297" "0" "c.2297G>A" "r.(?)" "p.(Ser766Asn)" "" "0000698191" "00008940" "90" "2451" "0" "2451" "0" "c.2451C>A" "r.(?)" "p.(Phe817Leu)" "" "0000710203" "00008940" "90" "2414" "0" "2414" "0" "c.2414C>T" "r.(?)" "p.(Pro805Leu)" "" "0000722423" "00008940" "30" "780" "0" "780" "0" "c.780C>T" "r.(?)" "p.(Arg260=)" "" "0000722424" "00008940" "50" "1252" "0" "1252" "0" "c.1252G>A" "r.(?)" "p.(Gly418Arg)" "" "0000722425" "00008940" "70" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Arg548Gln)" "" "0000722426" "00008940" "70" "1667" "0" "1667" "0" "c.1667A>G" "r.(?)" "p.(Gln556Arg)" "" "0000722427" "00008940" "70" "2209" "0" "2209" "0" "c.2209G>A" "r.(?)" "p.(Glu737Lys)" "" "0000722428" "00008940" "30" "2589" "20" "2589" "20" "c.2589+20G>A" "r.(=)" "p.(=)" "" "0000804014" "00008940" "30" "1864" "10" "1864" "10" "c.1864+10C>T" "r.(=)" "p.(=)" "" "0000804015" "00008940" "70" "1976" "0" "1976" "0" "c.1976G>A" "r.(?)" "p.(Arg659Gln)" "" "0000852197" "00008940" "50" "1045" "0" "1045" "0" "c.1045G>T" "r.(?)" "p.(Ala349Ser)" "" "0000871145" "00008940" "70" "1191" "0" "1191" "0" "c.1191A>C" "r.(?)" "p.(Arg397Ser)" "" "0000888754" "00008940" "70" "1518" "0" "1518" "0" "c.1518del" "r.(?)" "p.(Ser507Alafs*6)" "" "0000888755" "00008940" "70" "1912" "0" "1912" "0" "c.1912G>A" "r.(?)" "p.(Gly638Ser)" "" "0000913131" "00008940" "50" "952" "0" "952" "0" "c.952G>C" "r.(?)" "p.(Gly318Arg)" "" "0000918152" "00008940" "90" "1658" "0" "1658" "0" "c.1658C>T" "r.(?)" "p.(Ser553Leu)" "" "0000918153" "00008940" "70" "1972" "0" "1972" "0" "c.1972G>T" "r.(?)" "p.(Asp658Tyr)" "" "0000918154" "00008940" "70" "1957" "0" "1957" "0" "c.1957G>A" "r.(?)" "p.(Ala653Thr)" "" "0000918155" "00008940" "70" "2231" "0" "2231" "0" "c.2231G>A" "r.(?)" "p.(Cys744Tyr)" "" "0000918159" "00008940" "90" "1422" "0" "1422" "0" "c.1422C>A" "r.(?)" "p.(Tyr474Ter)" "" "0000960252" "00008940" "70" "1852" "0" "1852" "0" "c.1852G>C" "r.(?)" "p.(Gly618Arg)" "" "0000965321" "00008940" "50" "2043" "0" "2043" "0" "c.2043C>A" "r.(?)" "p.(Tyr681*)" "" "0000978589" "00008940" "50" "524" "0" "524" "0" "c.524C>T" "r.(?)" "p.(Ala175Val)" "" "0000997718" "00008940" "50" "679" "0" "679" "0" "c.679G>C" "r.(?)" "p.(Asp227His)" "" "0000997719" "00008940" "50" "952" "0" "952" "0" "c.952G>C" "r.(?)" "p.(Gly318Arg)" "" "0000997720" "00008940" "30" "1121" "0" "1121" "0" "c.1121C>T" "r.(?)" "p.(Pro374Leu)" "" "0000997721" "00008940" "70" "1978" "0" "1978" "0" "c.1978C>T" "r.(?)" "p.(Pro660Ser)" "" "0000997722" "00008940" "50" "10290" "0" "10290" "0" "c.*7473C>T" "r.(=)" "p.(=)" "" "0001037369" "00008940" "30" "394" "-1095" "394" "-1095" "c.394-1095T>A" "r.(=)" "p.(=)" "" "0001037370" "00008940" "50" "466" "0" "466" "0" "c.466C>G" "r.(?)" "p.(Arg156Gly)" "" "0001037371" "00008940" "50" "520" "0" "520" "0" "c.520C>G" "r.(?)" "p.(Arg174Gly)" "" "0001037372" "00008940" "50" "3118" "0" "3118" "0" "c.*301A>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 87 "{{screeningid}}" "{{variantid}}" "0000024263" "0000046859" "0000024264" "0000046860" "0000024267" "0000046884" "0000024267" "0000046885" "0000024267" "0000046886" "0000024267" "0000046887" "0000024267" "0000046888" "0000024267" "0000046889" "0000024268" "0000046959" "0000024268" "0000046960" "0000024268" "0000046961" "0000024268" "0000046962" "0000024268" "0000046963" "0000024268" "0000046982" "0000024268" "0000046983" "0000024268" "0000046984" "0000024268" "0000046985" "0000024268" "0000046986" "0000024268" "0000046987" "0000039640" "0000067251" "0000080274" "0000129232" "0000100841" "0000163231" "0000105042" "0000170304" "0000117418" "0000188263" "0000117449" "0000188294" "0000117496" "0000188431" "0000117573" "0000188416" "0000295985" "0000652674" "0000297874" "0000660574" "0000304122" "0000667520" "0000304123" "0000667521" "0000306369" "0000670057" "0000311822" "0000687373" "0000311823" "0000687374" "0000311824" "0000687375" "0000311825" "0000687376" "0000312021" "0000687572" "0000312022" "0000687573" "0000312023" "0000687574" "0000312024" "0000687575" "0000312025" "0000687576" "0000312026" "0000687577" "0000312027" "0000687578" "0000312028" "0000687579" "0000312029" "0000687580" "0000312030" "0000687581" "0000312031" "0000687582" "0000312032" "0000687583" "0000312033" "0000687584" "0000312034" "0000687585" "0000312035" "0000687586" "0000312036" "0000687587" "0000312037" "0000687588" "0000312038" "0000687589" "0000312108" "0000687659" "0000312109" "0000687660" "0000312110" "0000687661" "0000312111" "0000687662" "0000312112" "0000687663" "0000312113" "0000687664" "0000312114" "0000687665" "0000312115" "0000687666" "0000312116" "0000687667" "0000312122" "0000687673" "0000312123" "0000687674" "0000312124" "0000687675" "0000312126" "0000687677" "0000312134" "0000687685" "0000312136" "0000687687" "0000312137" "0000687688" "0000312142" "0000687693" "0000312143" "0000687694" "0000312144" "0000687695" "0000312145" "0000687696" "0000312149" "0000687700" "0000312150" "0000687701" "0000312161" "0000687712" "0000312162" "0000687713" "0000316065" "0000698191" "0000326618" "0000710203" "0000413637" "0000871145" "0000432612" "0000918152" "0000432613" "0000918153" "0000432614" "0000918154" "0000432615" "0000918155" "0000432619" "0000918159" "0000449769" "0000960252"