### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GRIA4) # 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}}" "GRIA4" "glutamate receptor, ionotropic, AMPA 4" "11" "q22" "unknown" "NC_000011.9" "UD_132319522303" "" "https://www.LOVD.nl/GRIA4" "" "1" "4574" "2893" "138246" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/GRIA4_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2022-01-17 15:22:25" "00000" "2025-11-01 13:22:20" ## 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}}" "00000849" "GRIA4" "glutamate receptor, ionotrophic, AMPA 4, transcript variant 1" "002" "NM_000829.3" "" "NP_000820.3" "" "" "" "-446" "5062" "2709" "105480800" "105852819" "00000" "2012-09-13 12:55:26" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "06121" "NEDSGA" "Neurodevelopmental disorder with or without seizures and gait abnormalities" "AD" "617864" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GRIA4" "06121" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00399242" "" "" "" "1" "" "00006" "{PMID:Martin 2017:29220673}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "" "" "0" "" "" "" "Pat1" "00399243" "" "" "" "1" "" "00006" "{PMID:Martin 2017:29220673}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "" "" "0" "" "" "" "Pat2" "00399244" "" "" "" "1" "" "00006" "{PMID:Martin 2017:29220673}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "" "" "0" "" "" "" "Pat3" "00399245" "" "" "" "1" "" "00006" "{PMID:Martin 2017:29220673}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "" "" "0" "" "" "white" "Pat4" "00399246" "" "" "" "1" "" "00006" "{PMID:Martin 2017:29220673}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "" "" "0" "" "" "" "Pat5" "00432974" "" "" "" "1" "" "01164" "" "" "F" "?" "Pakistan" "" "0" "" "" "" "251198" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00399242" "00139" "00399243" "00139" "00399244" "00139" "00399245" "00139" "00399246" "00139" "00432974" "06121" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 01157, 06121 ## Count = 8 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "0000292354" "00139" "00399242" "00006" "Isolated (sporadic)" "15y" "see paper; ..., prenatal period unremarkable pregnancy after IVF, birth 40w, weight 3,755 g (62P), length 53 cm (59P); neonatal stiffness (stiff baby syndrome), irritability, excessive startle reflex; no congenital anomalies; normal postnatal growth; mild to moderate developmental delay; speech with dysarthria; MRI brain normal; interaction with adults, reduced attention span, tension with irritability, anxiety; muscle hyperekplexia with exaggerated head-retraction reflex, stiffness, hypertonia; difficulties walking in straight line, stiff gait, ability to run; no seizures, but severe contraction burst in relation to trauma; large ears; EEG normal; sleeping problems in childhood" "" "" "" "" "" "" "" "NEDSGA" "intellectual disability" "0000292355" "00139" "00399243" "00006" "Isolated (sporadic)" "21y" "see paper; ..., prenatal period unremarkable, birth 40w, weight 3,320 g (25P); neonatal irritability, stiffness; no congenital anomalies; failure to thrive, short stature, microcephaly; severe developmental delay; no speech; MRI brain bilateral symmetric extensive atrophy frontal lobes, mild frontal ventriculomegaly, thin corpus callosum ; social smile, interaction with caregivers; muscle severe spastic quadriplegia, hypertonia with contractures; not walking; 5w-onset intractable generalized seizures; prognathism, midface retrusion, short philtrum, large ears; EEG diffuse cerebral disturbance without electrographic correlates to seizures; bilateral hiatal hernias, gastresophageal reflux, feeding difficulties, apneas, recurrent respiratory infections in first year of life, strabismus, choreiform movements" "" "" "" "" "" "" "" "NEDSGA" "intellectual disability" "0000292356" "00139" "00399244" "00006" "Isolated (sporadic)" "04y" "see paper; ..., prenatal period maternal pre-eclampsia, birth 34wweight 3,033 g (95P), length 47 cm (61P), OFC 34 cm (86P); neonatal hypertonia, nystagmus, increased startle reflex; no congenital anomalies; normal postnatal growth; severe developmental delay; no speech; MRI brain optic nerve hypoplasia; occasional response to voice; muscle spasticity; supported walking; 14m-onset seizure-like episodes; large ears; EEG generalized slowing, no epileptiform discharges" "" "" "" "" "" "" "" "NEDSGA" "intellectual disability" "0000292357" "00139" "00399245" "00006" "Isolated (sporadic)" "04y" "see paper; ..., prenatal period unremarkable, birth 39wweight 3,450 g (47P), length 53 cm (68P), OFC 37 cm (90P); neonatal unremarkable; no congenital anomalies; normal postnatal growth; moderate to severe developmental delay; no speech; MRI brain normal; 3y-hyperactivity, reduced attention span, aggressive behavior, reduced interaction with other children; 4y-non-verbal communication, ability to focus and play; muscle mild muscular hypotonia (neonatal); clumsy gait; 13m-onset febrile seizures; no craniofacial dysmorphism; EEG generalized spikes and waves during sleep; stereotypic hand movements" "" "" "" "" "" "" "" "NEDSGA" "intellectual disability" "0000292358" "00139" "00399246" "00006" "Isolated (sporadic)" "04y" "see paper; ..., prenatal period unremarkable, birth 40wweight 4,150 g (95P), length 53 cm (72P), OFC 36 cm (80P); neonatal unremarkable; no congenital anomalies; normal postnatal growth; mild to moderate developmental delay; speech single words, few two-word sentences; MRI brain normal; lack of distance toward adults, reduced interaction with other children, strong searching for physical contact, mood changes with aggressive behavior and attention deficits; muscle unremarkable; walking; no seizures; no craniofacial dysmorphism; EEG normal; hyporeflexia, simian crease on both hands" "" "" "" "" "" "" "" "NEDSGA" "intellectual disability" "0000323535" "06121" "00432974" "01164" "Unknown" "00y06m" "Agitation, Opisthotonus, Hypertonia, Hyperreflexia, Neurodevelopmental delay, Failure to thrive in infancy, Secundum atrial septal defect, Exaggerated startle response, Glutaric aciduria" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000400486" "00399242" "1" "00006" "00006" "2022-01-17 18:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400487" "00399243" "1" "00006" "00006" "2022-01-17 18:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400488" "00399244" "1" "00006" "00006" "2022-01-17 18:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400489" "00399245" "1" "00006" "00006" "2022-01-17 18:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400490" "00399246" "1" "00006" "00006" "2022-01-17 18:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000434418" "00432974" "1" "01164" "01164" "2023-02-27 15:22:56" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000434418" "GRIA4" ## 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 = 37 "{{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}}" "0000005061" "3" "50" "11" "105836923" "105836923" "subst" "0" "00037" "GRIA4_000009" "g.105836923G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.105966196G>A" "" "VUS" "" "0000005062" "3" "50" "11" "105836960" "105836960" "subst" "0" "00037" "GRIA4_000001" "g.105836960A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.105966233A>G" "" "VUS" "" "0000005063" "3" "50" "11" "105837044" "105837044" "subst" "0" "00037" "GRIA4_000003" "g.105837044T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.105966317T>C" "" "VUS" "" "0000005064" "3" "50" "11" "105837119" "105837119" "subst" "0" "00037" "GRIA4_000005" "g.105837119G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.105966392G>A" "" "VUS" "" "0000005065" "3" "50" "11" "105842916" "105842916" "subst" "0" "00037" "GRIA4_000007" "g.105842916C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.105972189C>T" "" "VUS" "" "0000012997" "3" "50" "11" "105836923" "105836923" "subst" "0" "00037" "GRIA4_000009" "g.105836923G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.105966196G>A" "" "VUS" "" "0000012998" "3" "50" "11" "105836960" "105836960" "subst" "0" "00037" "GRIA4_000001" "g.105836960A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.105966233A>G" "" "VUS" "" "0000012999" "3" "50" "11" "105837044" "105837044" "subst" "0" "00037" "GRIA4_000003" "g.105837044T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.105966317T>C" "" "VUS" "" "0000013000" "3" "50" "11" "105837119" "105837119" "subst" "0" "00037" "GRIA4_000005" "g.105837119G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.105966392G>A" "" "VUS" "" "0000013001" "3" "50" "11" "105842916" "105842916" "subst" "0" "00037" "GRIA4_000007" "g.105842916C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.105972189C>T" "" "VUS" "" "0000541894" "0" "50" "11" "105775933" "105775933" "subst" "6.11381E-5" "01943" "GRIA4_000010" "g.105775933A>C" "" "" "" "GRIA4(NM_001077243.2):c.1064A>C (p.Q355P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105905207A>C" "" "VUS" "" "0000541895" "0" "70" "11" "105797547" "105797547" "subst" "0" "02327" "GRIA4_000011" "g.105797547C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105926821C>A" "" "likely pathogenic" "" "0000723075" "0" "50" "11" "105774591" "105774591" "subst" "0" "02329" "GRIA4_000012" "g.105774591C>T" "" "" "" "GRIA4(NM_001077243.2):c.937C>T (p.R313*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804690" "0" "30" "11" "105804626" "105804626" "subst" "0" "02327" "GRIA4_000013" "g.105804626C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804693" "0" "30" "11" "105845075" "105845075" "subst" "0.00175919" "02326" "GRIA4_000014" "g.105845075C>T" "" "" "" "GRIA4(NM_000829.4):c.2448C>T (p.G816=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000816546" "0" "50" "11" "105769062" "105769062" "subst" "8.13279E-6" "03779" "GRIA4_000015" "g.105769062T>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs759332963" "0" "" "" "" "" "VUS" "" "0000833377" "0" "90" "11" "105797534" "105797534" "subst" "0" "00006" "GRIA4_000016" "g.105797534A>T" "" "{PMID:Martin 2017:29220673}" "" "" "" "De novo" "" "" "0" "" "" "g.105926808A>T" "" "pathogenic (dominant)" "" "0000833378" "0" "90" "11" "105797540" "105797540" "subst" "0" "00006" "GRIA4_000017" "g.105797540A>G" "" "{PMID:Martin 2017:29220673}" "" "" "" "De novo" "" "" "0" "" "" "g.105926814A>G" "" "pathogenic (dominant)" "" "0000833379" "0" "90" "11" "105797547" "105797547" "subst" "0" "00006" "GRIA4_000018" "g.105797547C>G" "" "{PMID:Martin 2017:29220673}" "" "" "" "De novo" "" "" "0" "" "" "g.105926821C>G" "" "pathogenic (dominant)" "" "0000833380" "0" "90" "11" "105797550" "105797550" "subst" "0" "00006" "GRIA4_000019" "g.105797550C>T" "" "{PMID:Martin 2017:29220673}" "" "" "" "De novo" "" "" "0" "" "" "g.105926824C>T" "" "pathogenic (dominant)" "" "0000833381" "0" "90" "11" "105804491" "105804491" "subst" "0" "00006" "GRIA4_000020" "g.105804491G>C" "" "{PMID:Martin 2017:29220673}" "" "" "" "De novo" "" "" "0" "" "" "g.105933765G>C" "" "pathogenic (dominant)" "" "0000920169" "0" "70" "11" "105797537" "105797537" "subst" "0" "01164" "GRIA4_000021" "g.105797537G>T" "" "" "" "" "ACMG: PS2_MOD, PM1, PM5, PM2_SUP, PP2, PP3; confirmed de novo in trio-exom, de novo in ClinVar" "De novo" "-" "" "" "" "" "" "VCV001332998.1" "likely pathogenic (dominant)" "ACMG" "0000949487" "0" "50" "11" "105774685" "105774685" "subst" "0" "02329" "GRIA4_000022" "g.105774685A>T" "" "" "" "GRIA4(NM_001077243.3):c.1031A>T (p.D344V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979281" "0" "30" "11" "105732889" "105732889" "subst" "8.14445E-6" "01804" "GRIA4_000023" "g.105732889T>G" "" "" "" "GRIA4(NM_000829.4):c.627T>G (p.(Phe209Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979282" "0" "30" "11" "105776036" "105776036" "subst" "6.21978E-5" "01804" "GRIA4_000024" "g.105776036C>T" "" "" "" "GRIA4(NM_000829.4):c.1158+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998652" "0" "50" "11" "105623869" "105623869" "subst" "8.13352E-6" "01804" "GRIA4_000025" "g.105623869C>T" "" "" "" "GRIA4(NM_000829.3):c.410C>T (p.(Ser137Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998653" "0" "30" "11" "105623907" "105623907" "subst" "2.03404E-5" "01804" "GRIA4_000026" "g.105623907G>A" "" "" "" "GRIA4(NM_000829.3):c.448G>A (p.(Glu150Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998654" "0" "50" "11" "105623938" "105623938" "subst" "0" "01804" "GRIA4_000027" "g.105623938C>T" "" "" "" "GRIA4(NM_000829.3):c.479C>T (p.(Thr160Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998655" "0" "50" "11" "105774679" "105774679" "subst" "8.16067E-6" "01804" "GRIA4_000028" "g.105774679G>C" "" "" "" "GRIA4(NM_000829.3):c.1025G>C (p.(Gly342Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038158" "0" "30" "11" "105732774" "105732774" "subst" "2.03659E-5" "01804" "GRIA4_000029" "g.105732774T>C" "" "" "" "GRIA4(NM_000829.4):c.512T>C (p.(Met171Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038159" "0" "30" "11" "105775927" "105775927" "subst" "1.63303E-5" "01804" "GRIA4_000030" "g.105775927G>A" "" "" "" "GRIA4(NM_000829.4):c.1058G>A (p.(Arg353Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054059" "0" "30" "11" "105481741" "105481741" "subst" "0" "01804" "GRIA4_000031" "g.105481741G>C" "" "" "" "GRIA4(NM_000829.4):c.17G>C (p.(Arg6Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054060" "0" "30" "11" "105774586" "105774586" "subst" "4.06494E-6" "01804" "GRIA4_000032" "g.105774586C>G" "" "" "" "GRIA4(NM_000829.4):c.932C>G (p.(Thr311Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054061" "0" "30" "11" "105836721" "105836721" "subst" "4.46762E-5" "01804" "GRIA4_000033" "g.105836721T>C" "" "" "" "GRIA4(NM_001077243.3):c.2342T>C (p.(Leu781Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054062" "0" "50" "11" "105842717" "105842717" "subst" "0" "01804" "GRIA4_000034" "g.105842717G>A" "" "" "" "GRIA4(NM_000829.4):c.2371G>A (p.(Asp791Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054063" "0" "50" "11" "105845028" "105845028" "subst" "0" "01804" "GRIA4_000035" "g.105845028C>A" "" "" "" "GRIA4(NM_000829.4):c.2410-9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054064" "0" "30" "11" "105845076" "105845076" "subst" "1.62506E-5" "01804" "GRIA4_000036" "g.105845076G>A" "" "" "" "GRIA4(NM_000829.4):c.2449G>A (p.(Val817Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes GRIA4 ## Count = 37 "{{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}}" "0000005061" "00000849" "50" "2295" "-5718" "2295" "-5718" "c.2295-5718G>A" "r.(=)" "p.(=)" "" "0000005062" "00000849" "50" "2295" "-5681" "2295" "-5681" "c.2295-5681A>G" "r.(=)" "p.(=)" "" "0000005063" "00000849" "50" "2295" "-5597" "2295" "-5597" "c.2295-5597T>C" "r.(=)" "p.(=)" "" "0000005064" "00000849" "50" "2295" "-5522" "2295" "-5522" "c.2295-5522G>A" "r.(=)" "p.(=)" "" "0000005065" "00000849" "50" "2409" "161" "2409" "161" "c.2409+161C>T" "r.(=)" "p.(=)" "" "0000012997" "00000849" "50" "2295" "-5718" "2295" "-5718" "c.2295-5718G>A" "r.(=)" "p.(=)" "" "0000012998" "00000849" "50" "2295" "-5681" "2295" "-5681" "c.2295-5681A>G" "r.(=)" "p.(=)" "" "0000012999" "00000849" "50" "2295" "-5597" "2295" "-5597" "c.2295-5597T>C" "r.(=)" "p.(=)" "" "0000013000" "00000849" "50" "2295" "-5522" "2295" "-5522" "c.2295-5522G>A" "r.(=)" "p.(=)" "" "0000013001" "00000849" "50" "2409" "161" "2409" "161" "c.2409+161C>T" "r.(=)" "p.(=)" "" "0000541894" "00000849" "50" "1064" "0" "1064" "0" "c.1064A>C" "r.(?)" "p.(Gln355Pro)" "" "0000541895" "00000849" "70" "1928" "0" "1928" "0" "c.1928C>A" "r.(?)" "p.(Ala643Asp)" "" "0000723075" "00000849" "50" "937" "0" "937" "0" "c.937C>T" "r.(?)" "p.(Arg313*)" "" "0000804690" "00000849" "30" "2225" "0" "2225" "0" "c.2225C>A" "r.(?)" "p.(Thr742Lys)" "" "0000804693" "00000849" "30" "2448" "0" "2448" "0" "c.2448C>T" "r.(?)" "p.(Gly816=)" "" "0000816546" "00000849" "50" "794" "0" "794" "0" "c.794T>G" "r.(?)" "p.(Val265Gly)" "" "0000833377" "00000849" "90" "1915" "0" "1915" "0" "c.1915A>T" "r.(?)" "p.(Thr639Ser)" "" "0000833378" "00000849" "90" "1921" "0" "1921" "0" "c.1921A>G" "r.(?)" "p.(Asn641Asp)" "" "0000833379" "00000849" "90" "1928" "0" "1928" "0" "c.1928C>G" "r.(?)" "p.(Ala643Gly)" "" "0000833380" "00000849" "90" "1931" "0" "1931" "0" "c.1931C>T" "r.(?)" "p.(Ala644Val)" "" "0000833381" "00000849" "90" "2090" "0" "2090" "0" "c.2090G>C" "r.(?)" "p.(Arg697Pro)" "" "0000920169" "00000849" "70" "1918" "0" "1918" "0" "c.1918G>T" "r.(?)" "p.(Ala640Ser)" "" "0000949487" "00000849" "50" "1031" "0" "1031" "0" "c.1031A>T" "r.(?)" "p.(Asp344Val)" "" "0000979281" "00000849" "30" "627" "0" "627" "0" "c.627T>G" "r.(?)" "p.(Phe209Leu)" "" "0000979282" "00000849" "30" "1158" "9" "1158" "9" "c.1158+9C>T" "r.(=)" "p.(=)" "" "0000998652" "00000849" "50" "410" "0" "410" "0" "c.410C>T" "r.(?)" "p.(Ser137Leu)" "" "0000998653" "00000849" "30" "448" "0" "448" "0" "c.448G>A" "r.(?)" "p.(Glu150Lys)" "" "0000998654" "00000849" "50" "479" "0" "479" "0" "c.479C>T" "r.(?)" "p.(Thr160Ile)" "" "0000998655" "00000849" "50" "1025" "0" "1025" "0" "c.1025G>C" "r.(?)" "p.(Gly342Ala)" "" "0001038158" "00000849" "30" "512" "0" "512" "0" "c.512T>C" "r.(?)" "p.(Met171Thr)" "" "0001038159" "00000849" "30" "1058" "0" "1058" "0" "c.1058G>A" "r.(?)" "p.(Arg353Gln)" "" "0001054059" "00000849" "30" "17" "0" "17" "0" "c.17G>C" "r.(?)" "p.(Arg6Thr)" "" "0001054060" "00000849" "30" "932" "0" "932" "0" "c.932C>G" "r.(?)" "p.(Thr311Ser)" "" "0001054061" "00000849" "30" "2295" "-5920" "2295" "-5920" "c.2295-5920T>C" "r.(=)" "p.(=)" "" "0001054062" "00000849" "50" "2371" "0" "2371" "0" "c.2371G>A" "r.(?)" "p.(Asp791Asn)" "" "0001054063" "00000849" "50" "2410" "-9" "2410" "-9" "c.2410-9C>A" "r.(=)" "p.(=)" "" "0001054064" "00000849" "30" "2449" "0" "2449" "0" "c.2449G>A" "r.(?)" "p.(Val817Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000000209" "0000005061" "0000000209" "0000005062" "0000000209" "0000005063" "0000000209" "0000005064" "0000000209" "0000005065" "0000000210" "0000012997" "0000000210" "0000012998" "0000000210" "0000012999" "0000000210" "0000013000" "0000000210" "0000013001" "0000400486" "0000833377" "0000400487" "0000833378" "0000400488" "0000833379" "0000400489" "0000833380" "0000400490" "0000833381" "0000434418" "0000920169"