### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SYNGAP1) # 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}}" "SYNGAP1" "synaptic Ras GTPase activating protein 1" "6" "p21.3" "unknown" "NG_016137.2" "UD_132119049050" "" "https://www.LOVD.nl/SYNGAP1" "" "1" "11497" "8831" "603384" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/SYNGAP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-01-30 12:17:24" "00006" "2025-11-13 13:04:16" ## 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}}" "00020634" "SYNGAP1" "synaptic Ras GTPase activating protein 1" "001" "NM_006772.2" "" "NP_006763.2" "" "" "" "-195" "5815" "4032" "33387847" "33421466" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{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" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "00795" "MRD5" "mental retardation, autosomal dominant, type 5 (MRD-5)" "AD" "612621" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "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" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SYNGAP1" "00139" "SYNGAP1" "00795" ## Individuals ## Do not remove or alter this header ## ## Count = 59 "{{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}}" "00024277" "" "" "" "50" "" "00006" "{PMID:Hamdan 2011:21376300}" "95 cases" "-" "" "Canada" "" "0" "" "" "French" "" "00050403" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected mother/child" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050417" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050433" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050450" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050483" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050500" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected and affected2nd degree relatives" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050704" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00180160" "" "" "" "1" "" "00006" "{PMID:Tumienė 2018:29286531}" "" "" "" "(Slovenia)" "" "0" "" "" "" "29286531-Pat12" "00183049" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}" "" "M" "" "Netherlands" "" "0" "" "" "" "23033978-Trio16" "00205120" "" "" "" "1" "" "00028" "" "" "M" "no" "Canada" "" "0" "" "" "French Canadia" "" "00205121" "" "" "" "1" "" "00028" "{PMID:Hamdan 2009:19196676}" "" "F" "no" "(Canada)" "" "0" "" "" "South American" "" "00205122" "" "" "" "1" "" "00028" "{PMID:Hamdan 2009:19196676}" "" "F" "no" "(Canada)" "" "0" "" "" "French Canadian" "" "00205123" "" "" "" "1" "" "00028" "" "" "M" "no" "Canada" "" "0" "" "" "French Canadian" "" "00205124" "" "" "" "1" "" "00028" "" "" "F" "no" "Canada" "" "0" "" "" "French Canadian" "" "00205125" "" "" "" "1" "" "00028" "" "" "F" "no" "Canada" "" "0" "" "" "French Canadian" "" "00205126" "" "" "" "1" "" "00028" "{PMID:de Ligt 2012:23033978}" "" "" "no" "" "" "0" "" "" "" "" "00205127" "" "" "" "1" "" "00028" "{PMID:Rauch 2012:23020937}" "" "" "no" "" "" "0" "" "" "" "" "00205128" "" "" "" "1" "" "00028" "" "" "" "no" "" "" "0" "" "" "" "" "00205129" "" "" "" "1" "" "00028" "" "father is mosaic for the mutation; father has learning problems and depression)" "F" "no" "Denmark" "" "0" "" "" "European" "" "00205130" "" "" "" "1" "" "00028" "{PMID:Vissers 2010:21076407}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "(Netherlands)" "" "0" "" "" "" "MRtrio8" "00205131" "" "" "" "1" "" "00028" "" "" "M" "no" "Canada" "" "0" "" "" "European" "" "00205132" "" "" "" "1" "" "00028" "submitted" "" "F" "no" "(Canada)" "" "0" "" "" "European" "" "00205133" "" "" "" "1" "" "00028" "submitted" "" "F" "no" "" "" "0" "" "" "" "" "00205134" "" "" "" "1" "" "00028" "submitted" "" "M" "no" "United States" "" "0" "" "" "European" "" "00218411" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00248403" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00263905" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00289417" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00294090" "" "" "" "16" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296669" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00296769" "" "" "" "1" "" "00006" "{PMID:Redin 2014:25167861}" "analysis 106 patients; 2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "France" "" "0" "" "" "" "APN-139" "00302954" "" "" "" "1" "" "00006" "{PMID:Fieremans 2016:27159028}" "" "F" "" "" "" "0" "" "" "" "Pat10" "00303042" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat87" "00303100" "" "" "" "1" "" "00006" "{PMID:Carvill 2013:23708187}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "T15923" "00303101" "" "" "" "1" "" "00006" "{PMID:Carvill 2013:23708187}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "T2528" "00303106" "" "" "" "1" "" "00006" "{PMID:Carvill 2013:23708187}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "T19988" "00303107" "" "" "" "1" "" "00006" "{PMID:Carvill 2013:23708187}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "T15924" "00303108" "" "" "" "1" "" "00006" "{PMID:Carvill 2013:23708187}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "T22387" "00303163" "" "" "" "1" "" "00006" "{PMID:Krepischi 2010:20683986}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "USP002265" "00303164" "" "" "" "1" "" "00006" "{PMID:Zollino 2011:21119708}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Italy" "" "0" "" "" "" "patient" "00303165" "" "" "" "1" "" "00006" "{PMID:Klitten 2011:22050443}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "" "" "Denmark" "" "0" "" "" "" "patient" "00303166" "" "" "" "1" "" "00006" "{PMID:Wirtzl 2013:23687080}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "M" "" "Slovenia" "" "0" "" "" "" "patient" "00306015" "" "" "" "1" "" "00006" "{PMID:Johannesen 2020:32427350}" "2-generation family, 1 affected, unaffected parents" "M" "" "Denmark" "" "0" "" "" "" "Pat46" "00320159" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00361500" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "simplex case" "M" "no" "Saudi Arabia" "" "0" "" "" "" "13DG0178" "00374520" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2171" "00374521" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1331" "00391875" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "128P" "00412360" "" "" "" "1" "" "00006" "{PMID:Halvardson 2016:27334371}" "" "M" "" "Sweden" "" "0" "" "" "" "Fam4" "00427802" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29314583}" "family, 1 affected, unaffected carrier mother" "M" "" "China" "" "0" "" "" "" "Pat244" "00438377" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat96" "00438708" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0766" "00440401" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED3490.1" "00452792" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00457909" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00458262" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00465799" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "331349" "00469443" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 57 "{{individualid}}" "{{diseaseid}}" "00024277" "00139" "00050403" "00198" "00050417" "00198" "00050433" "00198" "00050450" "00198" "00050483" "00198" "00050500" "00198" "00050704" "00198" "00180160" "00198" "00183049" "00139" "00205120" "00139" "00205121" "00139" "00205122" "00139" "00205123" "00139" "00205124" "00139" "00205125" "00139" "00205126" "00139" "00205127" "00139" "00205128" "00139" "00205129" "00139" "00205130" "00139" "00205131" "00139" "00205132" "00139" "00205133" "00139" "00205134" "00139" "00218411" "00198" "00289417" "00198" "00294090" "00198" "00296669" "00198" "00296769" "00139" "00302954" "00139" "00303042" "05521" "00303100" "00344" "00303101" "00344" "00303106" "00344" "00303107" "00344" "00303108" "00344" "00303163" "00139" "00303164" "00139" "00303165" "00139" "00303166" "00139" "00306015" "04270" "00320159" "00198" "00361500" "00139" "00374520" "00198" "00374521" "00198" "00391875" "00795" "00412360" "05611" "00427802" "04270" "00438377" "04270" "00438708" "06906" "00440401" "00198" "00452792" "00139" "00457909" "05611" "00458262" "00139" "00465799" "00795" "00469443" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00344, 00795, 04270, 05521, 05611, 06906 ## Count = 57 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000020395" "00139" "00024277" "00006" "Isolated (sporadic)" "" "nonsyndromic intellectual disability (NSID), no dysmorphic features, birth weight/postnatal growth in normal limits, birth normal head circumference" "" "" "" "" "" "" "" "" "" "" "" "" "0000037015" "00198" "00050403" "00006" "Unknown" "" "global developmental delay, delayed speech and language development, generalized neonatal hypotonia, strabismus, hypermetropia, myopathic facies, bilateral ptosis, downslanted palpebral fissures, tapered finger, pes planus" "" "" "" "" "" "" "" "" "" "" "" "" "0000037029" "00198" "00050417" "00006" "Isolated (sporadic)" "" "microcephaly, generalized myoclonic seizures, seizures, global developmental delay, generalized hypotonia, small feet, pes planus, exotropia, abnormality of the eye, abnormal joint morphology" "" "" "" "" "" "" "" "" "" "" "" "" "0000037045" "00198" "00050433" "00006" "Isolated (sporadic)" "" "global developmental delay, delayed speech and language development, abnormal facial shape, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000037062" "00198" "00050450" "00006" "Isolated (sporadic)" "" "abnormality of calvarial morphology, downslanted palpebral fissures, small chin, posteriorly rotated ears, triangular face, abnormality of toe, prominent superficial veins, sleep disturbance" "" "" "" "" "" "" "" "" "" "" "" "" "0000037095" "00198" "00050483" "00006" "Unknown" "" "ataxia, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000037112" "00198" "00050500" "00006" "Unknown" "" "global developmental delay, childhood-onset truncal obesity, microcephaly" "" "" "" "" "" "" "" "" "" "" "" "" "0000037316" "00198" "00050704" "00006" "Isolated (sporadic)" "" "global developmental delay, generalized hypotonia, constipation, hip dislocation, thoracolumbar scoliosis, cervical platyspondyly, thoracic platyspondyly, congenital horizontal nystagmus" "" "" "" "" "" "" "" "" "" "" "" "" "0000142614" "00198" "00180160" "00006" "Familial, autosomal dominant" "" "Epilepsy (HP:0001250), epileptic encephalopathy (HP:0200134), absence seizures (HP:0002121), global developmental delay (HP:0001263), absent speech (HP:0001344), nonprogressive ataxia (HP:0002470), (EEG with periodic lateralized epileptic discharges)." "" "" "" "" "" "" "" "" "" "MRD-5" "epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations" "" "0000143802" "00139" "00183049" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "intellectual disability (ID)" "" "0000153314" "00139" "00205120" "00028" "Isolated (sporadic)" "" "non-syndromic Intellectual disability, epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "0000153315" "00139" "00205121" "00028" "Isolated (sporadic)" "" "moderate/severe intellectual disability non-syndromic, generalized epilepsy, MRI normal, neurological examination normal" "" "" "4y5m" "" "" "" "" "" "" "" "" "" "0000153316" "00139" "00205122" "00028" "Isolated (sporadic)" "" "moderate/severe intellectual disabilitynon-syndromic, generalized epilepsy, MRI normal, neurological examination normal" "" "" "5y10m" "" "" "" "" "" "" "" "" "" "0000153317" "00139" "00205123" "00028" "Isolated (sporadic)" "" "Intellectual disability non-syndromic, autism" "" "" "" "" "" "" "" "" "" "" "" "" "0000153318" "00139" "00205124" "00028" "Isolated (sporadic)" "" "moderate/severe intellectual disability non-syndromic, no epilepsy, CT-scan normal, neurological examination normal" "" "" "12y10m" "" "" "" "" "" "" "" "" "" "0000153319" "00139" "00205125" "00028" "Isolated (sporadic)" "" "Intellectual disability non-syndromic, epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "0000153320" "00139" "00205126" "00028" "Isolated (sporadic)" "" "moderate to severe intellectual disability, no speech, non-dysmorphic, epilepsy, sleep disturbances" "" "" "" "" "" "" "" "" "" "" "" "" "0000153321" "00139" "00205127" "00028" "Isolated (sporadic)" "" "severe intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "0000153322" "00139" "00205128" "00028" "Isolated (sporadic)" "" "severe intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "0000153323" "00139" "00205129" "00028" "Familial" "" "intellectual disability non-syndromic, epilepsy (EMA)" "" "" "" "" "" "" "" "" "" "" "" "" "0000153324" "00139" "00205130" "00028" "Isolated (sporadic)" "" "intellectual disability non-syndromic, epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "0000153325" "00139" "00205131" "00028" "Isolated (sporadic)" "" "intellectual disability non-syndromic, autism, epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "0000153326" "00139" "00205132" "00028" "Isolated (sporadic)" "" "intellectual disability non-syndromic, autism" "" "" "" "" "" "" "" "" "" "" "" "" "0000153327" "00139" "00205133" "00028" "Isolated (sporadic)" "" "intellectual disability non-syndromic, ataxia, autism" "" "" "" "" "" "" "" "" "" "" "" "" "0000153328" "00139" "00205134" "00028" "Isolated (sporadic)" "" "intellectual disability non-syndromic, ataxia" "" "" "" "" "" "" "" "" "" "" "" "" "0000166895" "00198" "00218411" "01807" "Unknown" "" "Language impairment (HP:0002463); Global developmental delay (HP:0001263); Motor delay (HP:0001270); Muscular hypotonia (HP:0001252)" "" "" "" "" "" "" "" "" "" "" "" "" "0000187397" "00198" "00248403" "01164" "Unknown" "" "HP:0100022 (Abnormality of movement); HP:0001288 (Gait disturbance); HP:0001311 (Abnormal nervous system electrophysiology); HP:0011804 (Abnormality of muscle physiology); HP:0001263 (Global developmental delay); HP:0002353 (EEG abnormality); HP:0012759 (Neurodevelopmental abnormality); HP:0001324 (Muscle weakness)" "" "" "" "" "" "" "" "" "" "" "" "" "0000201812" "00198" "00263905" "01164" "Unknown" "" "Autism (HP:0000717); Mild global developmental delay (HP:0011342); Seizures (HP:0001250)" "" "" "" "" "" "" "" "" "" "" "" "" "0000223029" "00198" "00289417" "01164" "Unknown" "" "Global developmental delay (HP:0001263); Failure to thrive (HP:0001508); Absence seizures (HP:0002121); Generalized seizures (HP:0002197); EEG abnormality (HP:0002353); Microcephaly (HP:0000252); Feeding difficulties in infancy (HP:0008872)" "" "" "" "" "" "" "" "" "" "" "" "" "0000224070" "00198" "00296669" "01164" "Unknown" "" "Intellectual disability (HP:0001249); Seizures (HP:0001250); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "" "0000224168" "00139" "00296769" "00006" "Familial, autosomal dominant" "" "moderate intellectual disability" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000230038" "00139" "00302954" "00006" "Isolated (sporadic)" "" "see paper; ..., nonsyndromic mild/moderate intellectual disability, schizophrenia" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000230125" "05521" "00303042" "00006" "Isolated (sporadic)" "" "Unclassified epilepsy; age onset infantile" "" "" "" "" "" "" "" "" "" "MRD5" "seizures" "" "0000230184" "00344" "00303100" "00006" "Isolated (sporadic)" "26y" "seizures atypical absence (3y), atonic, Aura, focal dyscognitive seizures, myoclonic jerks; EEG single spike wave, multi-focal discharges; development prior to seizures delayed; Severe intellectual disability, autism spectrum disorder, regression" "" "" "" "" "" "" "" "" "" "MRD5" "epileptic encephalopathy" "" "0000230185" "00344" "00303101" "00006" "Isolated (sporadic)" "26y" "seizures febrile seizure (18m), absence, Aura, focal dyscognitive seizures, myoclonic jerks, non-convulsive status epilepticus, tonic-clonic; EEG single spike wave, bi-occipital ED, diffuse slowing; development prior to seizures delayed; moderate intellectual disability, regression" "" "" "" "" "" "" "" "" "" "MRD5" "epileptic encephalopathy" "" "0000230190" "00344" "00303106" "00006" "Isolated (sporadic)" "18y" "seizures unknown, focal dyscognitive seizures; EEG multi-focal discharges, diffuse slowing; Moderate intellectual disability autism spectrum disorder" "" "" "" "" "" "" "" "" "" "MRD5" "epileptic encephalopathy" "" "0000230191" "00344" "00303107" "00006" "Isolated (sporadic)" "11y" "seizures absence (6m), tonic-clonic; EEG generalised spike wave, generalised polyspike wave, multi-focal discharges; development prior to seizures delayed; Severe intellectual disability, autism spectrum disorder, regression" "" "" "" "" "" "" "" "" "" "MRD5" "epileptic encephalopathy" "" "0000230192" "00344" "00303108" "00006" "Isolated (sporadic)" "7y" "seizures absence (10m), myoclonic jerks; EEG generalised spike wave; development prior to seizures delayed; Severe intellectual disability, autism spectrum disorder, regression" "" "" "" "" "" "" "" "" "" "MRD5" "epileptic encephalopathy" "" "0000230247" "00139" "00303163" "00006" "Isolated (sporadic)" "06y09m" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000230248" "00139" "00303164" "00006" "Isolated (sporadic)" "06y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000230249" "00139" "00303165" "00006" "Isolated (sporadic)" "01y01m" "see paper; ..., 13m-onset siezures, absences associated with eye and head deviation; myoclonic absences, atypical absences, drop attacks with myoclonic jerks; epilepsy treatment resistant; severe intellectual disability, speech impairment; autistic features, anxious behavior" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000230250" "00139" "00303166" "00006" "Isolated (sporadic)" "09y" "see paper; ..., developmental delay, severe speech impairment, seizures,behavioral abnormalities" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000231861" "04270" "00306015" "00006" "Unknown" "26y" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000242205" "00198" "00320159" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Muscular hypotonia (HP:0001252); Aggressive behavior (HP:0000718); Diastema (HP:0000699)" "" "" "" "" "" "" "" "" "" "" "" "" "0000256905" "00139" "00361500" "00006" "Isolated (sporadic)" "8y" "not syndromic; global developmental delay, seizures and autistic behaviour" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000269730" "00198" "00374520" "00006" "Familial, autosomal dominant" "" "Manifested global developmental delay with autistic features, bruxism, depressed nasal bridge, bulbous nose, self harming at night and excessive cry. MRI was normal and EEG was suggestive of multifocal epilepsy." "" "" "" "" "" "" "" "" "" "" "epilepsy, autism spectrum disorder" "" "0000269731" "00198" "00374521" "00006" "Familial, autosomal dominant" "" "Myoclonus seizures, autistic symptoms and global developmental delay" "" "" "" "" "" "" "" "" "" "" "epilepsy, autism spectrum disorder" "" "0000304365" "05611" "00412360" "00006" "Isolated (sporadic)" "" "severe intellectual disability, autism, atypical absence seizures, atonic seizures, myoclonic absences, generalizied tonic clonic seizures , no speech, ataxic gait, almond shaped eys, full lips, narrow palate" "" "" "" "" "" "" "" "" "" "" "intellectual disability, epilepsy" "" "0000318776" "04270" "00427802" "00006" "Unknown" "3y" "intellectual disability; tonic seizure, spasms, frequency 3-4/d; EEG burst of fast activity, multifocal discharges; MRI brain nonspecific; resistant to antiepileptic drugs" "5m" "" "" "" "" "" "" "" "" "" "Lennox-Gastaut syndrome" "" "0000328281" "04270" "00438377" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0000750 delayed speech and language development; HP:0001249 intellectual disability; HP:0011344 severe global developmental delay; HP:0002353 eeg abnormality; HP:0003739 myoclonic spasms; HP:0002333 motor deterioration; HP:0001510 growth delay; HP:0008315 decreased plasma free carnitine; HP:0001410 decreased liver function" "3y" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328611" "06906" "00438708" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000330311" "00198" "00440401" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Autosomal dominant mental retardation-5 (MIM #612621)" "" "" "0000341356" "00139" "00452792" "03544" "Isolated (sporadic)" "" "HP:0000717, HP:0001249, HP:0001260, HP:00002167, HP:0000768" "" "" "" "" "" "" "" "" "" "MRD5" "" "" "0000346359" "05611" "00457909" "03544" "Isolated (sporadic)" "" "HP:0001249, HP:0000750, HP:0000729" "" "" "" "" "" "" "" "" "" "MRD5" "complex neurodevelopmental disorder" "" "0000346699" "00139" "00458262" "03544" "Isolated (sporadic)" "" "HP:0001249" "" "" "" "" "" "" "" "" "" "MRD5" "" "" "0000351241" "00795" "00465799" "01164" "Isolated (sporadic)" "13y" "Neurodevelopmental delay, Esophageal atresia, Short stature, Decreased body weight, Very preterm birth" "" "" "" "" "" "" "" "" "" "" "" "" "0000354596" "00198" "00469443" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" ## Screenings ## Do not remove or alter this header ## ## Count = 59 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000024269" "00024277" "1" "00006" "00006" "2014-11-15 11:41:25" "" "" "SEQ" "DNA" "" "" "0000050348" "00050403" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050362" "00050417" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050378" "00050433" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050395" "00050450" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050428" "00050483" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050445" "00050500" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050649" "00050704" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000181063" "00180160" "1" "00006" "00006" "2018-08-24 19:40:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000184009" "00183049" "1" "00006" "00006" "2018-10-12 16:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000206149" "00205120" "1" "00028" "00028" "2012-09-07 20:15:22" "" "" "SEQ" "DNA" "" "" "0000206150" "00205121" "1" "00028" "00028" "2012-09-05 20:17:43" "00006" "2014-11-14 18:00:19" "SEQ" "DNA" "" "" "0000206151" "00205122" "1" "00028" "00028" "2012-09-05 20:29:15" "00006" "2014-11-14 18:01:41" "SEQ" "DNA" "" "" "0000206152" "00205123" "1" "00028" "00028" "2012-09-07 20:28:01" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000206153" "00205124" "1" "00028" "00028" "2012-09-07 19:47:45" "00006" "2014-11-14 18:03:35" "SEQ" "DNA" "" "" "0000206154" "00205125" "1" "00028" "00028" "2012-09-07 19:56:22" "" "" "SEQ" "DNA" "" "" "0000206155" "00205126" "1" "00028" "00028" "2013-01-18 20:46:41" "00006" "2013-01-19 12:45:42" "SEQ" "DNA" "" "" "0000206156" "00205127" "1" "00028" "00028" "2013-01-18 20:34:23" "" "" "SEQ" "DNA" "" "" "0000206157" "00205128" "1" "00028" "00028" "2013-01-18 20:13:15" "00006" "2013-01-19 12:40:48" "SEQ" "DNA" "" "" "0000206158" "00205129" "1" "00028" "00028" "2012-09-11 19:45:26" "00006" "2012-09-12 17:05:59" "SEQ" "DNA" "" "" "0000206159" "00205130" "1" "00028" "00028" "2012-09-07 20:39:40" "00006" "2012-09-08 19:39:43" "SEQ;SEQ-NG-S" "DNA" "" "" "0000206160" "00205131" "1" "00028" "00028" "2012-09-11 20:07:20" "00006" "2013-01-19 12:49:15" "SEQ" "DNA" "" "" "0000206161" "00205132" "1" "00028" "00028" "2012-09-12 14:13:02" "00006" "2013-01-19 12:49:53" "SEQ" "DNA" "" "" "0000206162" "00205133" "1" "00028" "00028" "2012-09-12 14:37:12" "00006" "2013-01-19 12:50:40" "SEQ" "DNA" "" "" "0000206163" "00205134" "1" "00028" "00028" "2012-09-12 14:31:45" "00006" "2013-01-19 12:51:16" "SEQ" "DNA" "" "" "0000219482" "00218411" "1" "01807" "01807" "2019-01-29 15:03:10" "" "" "SEQ" "DNA" "" "" "0000249507" "00248403" "1" "01164" "01164" "2019-07-23 17:05:28" "" "" "SEQ-NG-S" "DNA" "" "" "0000265016" "00263905" "1" "01164" "01164" "2019-08-30 19:56:59" "" "" "SEQ-NG-S" "DNA" "" "" "0000290587" "00289417" "1" "01164" "01164" "2020-03-09 11:33:24" "" "" "SEQ-NG-S" "DNA" "" "" "0000295258" "00294090" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297779" "00296669" "1" "01164" "01164" "2020-04-10 08:46:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000297879" "00296769" "1" "00006" "00006" "2020-04-13 12:27:32" "" "" "SEQ;SEQ-NG" "DNA" "" "224-gene ID panel" "0000304079" "00302954" "1" "00006" "00006" "2020-06-05 09:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304167" "00303042" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000304224" "00303100" "1" "00006" "00006" "2020-06-06 19:15:13" "" "" "SEQ;SEQ-NG" "DNA" "" "65-gene panel" "0000304225" "00303101" "1" "00006" "00006" "2020-06-06 19:15:13" "" "" "SEQ;SEQ-NG" "DNA" "" "65-gene panel" "0000304230" "00303106" "1" "00006" "00006" "2020-06-06 19:15:13" "" "" "SEQ;SEQ-NG" "DNA" "" "65-gene panel" "0000304231" "00303107" "1" "00006" "00006" "2020-06-06 19:15:13" "" "" "SEQ;SEQ-NG" "DNA" "" "65-gene panel" "0000304232" "00303108" "1" "00006" "00006" "2020-06-06 19:15:13" "" "" "SEQ;SEQ-NG" "DNA" "" "65-gene panel" "0000304288" "00303163" "1" "00006" "00006" "2020-06-07 13:18:48" "" "" "arrayCGH" "DNA" "" "" "0000304289" "00303164" "1" "00006" "00006" "2020-06-07 13:27:03" "" "" "arrayCGH" "DNA" "" "" "0000304290" "00303165" "1" "00006" "00006" "2020-06-07 14:58:03" "" "" "FISH" "DNA" "" "" "0000304291" "00303166" "1" "00006" "00006" "2020-06-07 15:21:08" "" "" "arrayCGH" "DNA" "" "Agilent 180K oligo‐array" "0000307145" "00306015" "1" "00006" "00006" "2020-07-06 16:08:38" "" "" "SEQ;SEQ-NG" "DNA" "" "candidate gene panel" "0000321344" "00320159" "1" "01807" "01807" "2020-11-23 17:38:24" "" "" "SEQ" "DNA" "" "" "0000362728" "00361500" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "758-gene panel" "0000375714" "00374520" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375715" "00374521" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000393117" "00391875" "1" "02494" "02494" "2021-11-19 13:19:44" "" "" "SEQ-NG" "DNA" "" "WES" "0000413632" "00412360" "1" "00006" "00006" "2022-06-27 21:35:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000429125" "00427802" "1" "00006" "00006" "2022-12-13 13:20:24" "" "" "SEQ;SEQ-NG" "DNA" "" "target gene panel" "0000439859" "00438377" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000440190" "00438708" "1" "00006" "00006" "2023-10-21 19:20:17" "00006" "2023-10-21 22:17:41" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000441886" "00440401" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000454394" "00452792" "1" "03544" "03544" "2024-07-24 08:39:52" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000459529" "00457909" "1" "03544" "03544" "2024-11-21 07:30:21" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000459884" "00458262" "1" "03544" "03544" "2024-12-12 07:07:44" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000467450" "00465799" "1" "01164" "01164" "2025-06-05 16:46:57" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000471111" "00469443" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 42 "{{screeningid}}" "{{geneid}}" "0000024269" "SYNGAP1" "0000050348" "SYNGAP1" "0000050362" "SYNGAP1" "0000050378" "SYNGAP1" "0000050395" "SYNGAP1" "0000050428" "SYNGAP1" "0000050445" "SYNGAP1" "0000050649" "SYNGAP1" "0000181063" "SYNGAP1" "0000206149" "SYNGAP1" "0000206150" "SYNGAP1" "0000206151" "SYNGAP1" "0000206152" "SYNGAP1" "0000206153" "SYNGAP1" "0000206154" "SYNGAP1" "0000206155" "SYNGAP1" "0000206156" "SYNGAP1" "0000206157" "SYNGAP1" "0000206158" "SYNGAP1" "0000206159" "SYNGAP1" "0000206160" "SYNGAP1" "0000206161" "SYNGAP1" "0000206162" "SYNGAP1" "0000206163" "SYNGAP1" "0000297879" "SYNGAP1" "0000304079" "SYNGAP1" "0000304079" "TAF9B" "0000304167" "SYNGAP1" "0000304224" "SYNGAP1" "0000304225" "SYNGAP1" "0000304230" "SYNGAP1" "0000304231" "SYNGAP1" "0000304232" "SYNGAP1" "0000304288" "SYNGAP1" "0000304289" "SYNGAP1" "0000304290" "SYNGAP1" "0000304291" "SYNGAP1" "0000307145" "SYNGAP1" "0000362728" "SYNGAP1" "0000375714" "SYNGAP1" "0000375715" "SYNGAP1" "0000467450" "SYNGAP1" ## 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 = 231 "{{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}}" "0000047048" "0" "10" "6" "33414626" "33414626" "subst" "0" "00006" "SYNGAP1_000085" "g.33414626T>C" "92/95 cases" "{PMID:Hamdan 2011:21376300}" "" "" "incl. homozygous cases" "Unknown" "" "rs3119027" "0" "" "" "g.33446849T>C" "" "benign" "" "0000047049" "0" "10" "6" "33414637" "33414637" "subst" "0" "00006" "SYNGAP1_000086" "g.33414637G>T" "94/95 cases" "{PMID:Hamdan 2011:21376300}" "" "" "incl. homozygous cases" "Unknown" "" "rs3119019" "0" "" "" "g.33446860G>T" "" "benign" "" "0000047050" "0" "10" "6" "33408918" "33408918" "subst" "0" "00006" "SYNGAP1_000079" "g.33408918A>G" "5/95 cases" "{PMID:Hamdan 2011:21376300}" "" "" "incl. homozygous cases" "Unknown" "" "rs72271243" "0" "" "" "g.33441141A>G" "" "benign" "" "0000047051" "0" "10" "6" "33403422" "33403422" "subst" "0.397672" "00006" "SYNGAP1_000088" "g.33403422C>T" "60/95 cases" "{PMID:Hamdan 2011:21376300}" "" "" "incl. homozygous cases" "Unknown" "" "rs453590" "0" "" "" "g.33435645C>T" "" "benign" "" "0000047052" "0" "10" "6" "33411917" "33411917" "subst" "0" "00006" "SYNGAP1_000084" "g.33411917A>T" "5/95 cases" "{PMID:Hamdan 2011:21376300}" "" "" "incl. homozygous cases" "Unknown" "" "rs41270541" "0" "" "" "g.33444140A>T" "" "benign" "" "0000047053" "0" "10" "6" "33406392" "33406392" "subst" "0.0373153" "00006" "SYNGAP1_000016" "g.33406392C>T" "15/95 cases" "{PMID:Hamdan 2011:21376300}" "" "" "incl. homozygous cases" "Unknown" "" "rs45520731" "0" "" "" "g.33438615C>T" "" "benign" "" "0000047054" "1" "30" "6" "33409096" "33409096" "subst" "0" "00006" "SYNGAP1_000080" "g.33409096G>A" "1/95 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.33441319G>A" "" "likely benign" "" "0000047055" "0" "10" "6" "33408542" "33408542" "subst" "0.403545" "00006" "SYNGAP1_000018" "g.33408542G>A" "60/95 cases" "{PMID:Hamdan 2011:21376300}" "" "" "incl. homozygous cases" "Unknown" "" "rs411136" "0" "" "" "g.33440765G>A" "" "benign" "" "0000047056" "0" "10" "6" "33408632" "33408632" "subst" "0.0034394" "00006" "SYNGAP1_000077" "g.33408632G>A" "1/95 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "rs77934848" "0" "" "" "g.33440855G>A" "" "benign" "" "0000047057" "0" "10" "6" "33408680" "33408680" "subst" "0.106572" "00006" "SYNGAP1_000078" "g.33408680G>A" "24/95 cases" "{PMID:Hamdan 2011:21376300}" "" "" "incl. homozygous cases" "Unknown" "" "rs75579703" "0" "" "" "g.33440903G>A" "" "benign" "" "0000047058" "0" "10" "6" "33406556" "33406556" "subst" "0.034367" "00006" "SYNGAP1_000017" "g.33406556A>G" "6/95 cases" "{PMID:Hamdan 2011:21376300}" "" "" "incl. homozygous cases" "Unknown" "" "rs7759963" "0" "" "" "g.33438779A>G" "" "benign" "" "0000047059" "0" "10" "6" "33405834" "33405834" "subst" "0" "00006" "SYNGAP1_000089" "g.33405834C>T" "3/95 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "" "0" "" "" "g.33438057C>T" "" "benign" "" "0000047060" "0" "10" "6" "33393583" "33393583" "subst" "0.0114946" "00006" "SYNGAP1_000087" "g.33393583C>T" "2/95 cases" "{PMID:Hamdan 2011:21376300}" "" "" "incl. homozygous cases" "Unknown" "" "rs73402305" "0" "" "" "g.33425806C>T" "" "benign" "" "0000047061" "1" "10" "6" "33391270" "33391270" "subst" "0.00694411" "00006" "SYNGAP1_000019" "g.33391270T>C" "1/95 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.33423493T>C" "" "benign" "" "0000047062" "0" "10" "6" "33406300" "33406300" "subst" "0.0043128" "00006" "SYNGAP1_000091" "g.33406300T>C" "1/95 cases" "{PMID:Hamdan 2011:21376300}" "" "" "incl. homozygous cases" "Unknown" "" "rs72887798" "0" "" "" "g.33438523T>C" "" "benign" "" "0000047063" "0" "10" "6" "33405840" "33405840" "subst" "0" "00006" "SYNGAP1_000090" "g.33405840G>A" "2/95 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "" "0" "" "" "g.33438063G>A" "" "benign" "" "0000047064" "0" "10" "6" "33411299" "33411299" "subst" "0.023476" "00006" "SYNGAP1_000081" "g.33411299C>T" "5/95 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "rs61421477" "0" "" "" "g.33443522C>T" "" "benign" "" "0000047065" "1" "30" "6" "33411673" "33411673" "subst" "0.00978987" "00006" "SYNGAP1_000083" "g.33411673T>C" "1/95 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.33443896T>C" "" "likely benign" "" "0000047066" "0" "10" "6" "33411653" "33411653" "subst" "0.00166591" "00006" "SYNGAP1_000082" "g.33411653C>T" "1/95 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Unknown" "" "rs35337985" "0" "" "" "g.33443876C>T" "" "benign" "" "0000079328" "0" "90" "6" "33411606" "33411606" "subst" "0" "00006" "SYNGAP1_000021" "g.33411606C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.33443829C>T" "" "pathogenic" "" "0000079342" "0" "90" "6" "33411111" "33411111" "subst" "0" "00006" "SYNGAP1_000020" "g.33411111C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.33443334C>T" "" "pathogenic" "" "0000079358" "0" "90" "6" "33406569" "33406574" "del" "0" "00006" "SYNGAP1_000024" "g.33406569_33406574del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "33406569_33406575delCTGTATGinsG" "" "De novo" "" "" "0" "" "" "g.33438792_33438797del" "" "pathogenic" "" "0000079375" "0" "90" "6" "33400505" "33400508" "del" "0" "00006" "SYNGAP1_000026" "g.33400505_33400508del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "33400498_33400508delAAACGAACGAAinsAAACGAA" "" "De novo" "" "" "0" "" "" "g.33432728_33432731del" "" "pathogenic" "" "0000079408" "0" "90" "6" "33411103" "33411103" "del" "0" "00006" "SYNGAP1_000022" "g.33411103del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "33411102_33411102delCTinsC" "" "De novo" "" "" "0" "" "" "g.33443326del" "" "pathogenic" "" "0000079425" "0" "90" "6" "33400583" "33400583" "subst" "0" "00006" "SYNGAP1_000023" "g.33400583G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.33432806G>A" "" "pathogenic" "" "0000079629" "0" "90" "6" "33411093" "33411093" "subst" "0" "00006" "SYNGAP1_000025" "g.33411093C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.33443316C>T" "" "pathogenic" "" "0000251384" "0" "10" "6" "33406895" "33406895" "del" "0" "02326" "SYNGAP1_000045" "g.33406895del" "" "" "" "SYNGAP1(NM_006772.3):c.1676+199delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33439118del" "" "benign" "" "0000251385" "0" "10" "6" "33408918" "33408918" "subst" "0" "02326" "SYNGAP1_000079" "g.33408918A>G" "" "" "" "SYNGAP1(NM_006772.3):c.1914-32A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33441141A>G" "" "benign" "" "0000251386" "0" "10" "6" "33409266" "33409266" "subst" "0" "02326" "SYNGAP1_000050" "g.33409266A>G" "" "" "" "SYNGAP1(NM_006772.3):c.2116-92A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33441489A>G" "" "benign" "" "0000254981" "0" "30" "6" "33402959" "33402959" "subst" "0" "01943" "SYNGAP1_000034" "g.33402959A>T" "" "" "" "SYNGAP1(NM_006772.2):c.540A>T (p.S180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33435182A>T" "" "likely benign" "" "0000255579" "0" "90" "6" "33414482" "33414482" "del" "0" "01943" "SYNGAP1_000069" "g.33414482del" "" "" "" "SYNGAP1(NM_006772.2):c.3713delA (p.Q1238Rfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33446705del" "" "pathogenic" "" "0000274644" "0" "50" "6" "33384462" "33384463" "del" "0" "01943" "CUTA_000001" "g.33384462_33384463del" "" "" "" "CUTA(NM_015921.2):c.437_438delAG (p.E146Vfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33416685_33416686del" "" "VUS" "" "0000311673" "0" "10" "6" "33408542" "33408542" "subst" "0.403545" "02325" "SYNGAP1_000018" "g.33408542G>A" "" "" "" "SYNGAP1(NM_006772.3):c.1713G>A (p.S571=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33440765G>A" "" "benign" "" "0000311674" "0" "90" "6" "33409476" "33409476" "del" "0" "02325" "SYNGAP1_000052" "g.33409476del" "" "" "" "SYNGAP1(NM_006772.3):c.2234delC (p.P745Lfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33441699del" "" "pathogenic" "" "0000311675" "0" "50" "6" "33411193" "33411193" "subst" "3.2515E-5" "02325" "SYNGAP1_000055" "g.33411193C>T" "" "" "" "SYNGAP1(NM_006772.2):c.2864C>T (p.(Ser955Phe)), SYNGAP1(NM_006772.3):c.2864C>T (p.S955F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33443416C>T" "" "VUS" "" "0000311676" "0" "90" "6" "33411228" "33411228" "subst" "0" "02325" "SYNGAP1_000056" "g.33411228C>T" "" "" "" "SYNGAP1(NM_006772.2):c.2899C>T (p.R967*), SYNGAP1(NM_006772.3):c.2899C>T (p.R967*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33443451C>T" "" "pathogenic" "" "0000311677" "0" "10" "6" "33399778" "33399778" "subst" "0" "02325" "SYNGAP1_000029" "g.33399778C>T" "" "" "" "SYNGAP1(NM_006772.3):c.296-160C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33432001C>T" "" "benign" "" "0000311678" "0" "50" "6" "33411488" "33411488" "subst" "4.16632E-6" "02325" "SYNGAP1_000060" "g.33411488C>T" "" "" "" "SYNGAP1(NM_006772.3):c.3159C>T (p.S1053=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33443711C>T" "" "VUS" "" "0000311679" "0" "30" "6" "33411626" "33411626" "subst" "0.000258825" "02325" "SYNGAP1_000064" "g.33411626T>C" "" "" "" "SYNGAP1(NM_006772.3):c.3297T>C (p.Y1099=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33443849T>C" "" "likely benign" "" "0000311680" "0" "50" "6" "33405494" "33405494" "subst" "0" "02325" "SYNGAP1_000038" "g.33405494C>T" "" "" "" "SYNGAP1(NM_006772.3):c.812C>T (p.A271V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33437717C>T" "" "VUS" "" "0000311681" "0" "50" "6" "33405496" "33405496" "subst" "0" "02325" "SYNGAP1_000039" "g.33405496C>T" "" "" "" "SYNGAP1(NM_006772.3):c.814C>T (p.R272W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33437719C>T" "" "VUS" "" "0000311682" "0" "30" "6" "33391270" "33391270" "subst" "0.00694411" "02325" "SYNGAP1_000019" "g.33391270T>C" "" "" "" "SYNGAP1(NM_006772.3):c.84T>C (p.S28=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33423493T>C" "" "likely benign" "" "0000313214" "0" "70" "6" "33412317" "33412317" "subst" "0" "02329" "SYNGAP1_000067" "g.33412317G>T" "" "" "" "SYNGAP1(NM_006772.3):c.3505G>T (p.E1169*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33444540G>T" "" "likely pathogenic" "" "0000314312" "0" "30" "6" "33405994" "33405994" "subst" "0" "02326" "SYNGAP1_000041" "g.33405994G>A" "" "" "" "SYNGAP1(NM_006772.3):c.1312G>A (p.A438T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33438217G>A" "" "likely benign" "" "0000314313" "0" "10" "6" "33406392" "33406392" "subst" "0.0373153" "02326" "SYNGAP1_000016" "g.33406392C>T" "" "" "" "SYNGAP1(NM_006772.3):c.1531+52C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33438615C>T" "" "benign" "" "0000314314" "0" "30" "6" "33406680" "33406680" "subst" "0" "02326" "SYNGAP1_000044" "g.33406680G>A" "" "" "" "SYNGAP1(NM_006772.3):c.1660G>A (p.V554M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33438903G>A" "" "likely benign" "" "0000314315" "0" "90" "6" "33408564" "33408564" "subst" "0" "02326" "SYNGAP1_000046" "g.33408564C>T" "" "" "" "SYNGAP1(NM_006772.3):c.1735C>T (p.R579*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33440787C>T" "" "pathogenic" "" "0000314316" "0" "90" "6" "33409006" "33409006" "subst" "0" "02326" "SYNGAP1_000048" "g.33409006G>A" "" "" "" "SYNGAP1(NM_006772.3):c.1970G>A (p.W657*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33441229G>A" "" "pathogenic" "" "0000314317" "0" "30" "6" "33410987" "33410987" "subst" "0.000106522" "02326" "SYNGAP1_000053" "g.33410987G>A" "" "" "" "SYNGAP1(NM_006772.2):c.2658G>A (p.A886=), SYNGAP1(NM_006772.3):c.2658G>A (p.A886=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33443210G>A" "" "likely benign" "" "0000314318" "0" "10" "6" "33399656" "33399656" "subst" "0" "02326" "SYNGAP1_000028" "g.33399656C>T" "" "" "" "SYNGAP1(NM_006772.3):c.296-282C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33431879C>T" "" "benign" "" "0000314319" "0" "30" "6" "33399930" "33399930" "subst" "0.00026068" "02326" "SYNGAP1_000030" "g.33399930C>T" "" "" "" "SYNGAP1(NM_006772.3):c.296-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33432153C>T" "" "likely benign" "" "0000314320" "0" "70" "6" "33411402" "33411402" "subst" "0" "02326" "SYNGAP1_000058" "g.33411402C>T" "" "" "" "SYNGAP1(NM_006772.3):c.3073C>T (p.Q1025*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33443625C>T" "" "likely pathogenic" "" "0000314321" "0" "30" "6" "33411463" "33411463" "subst" "0.00249439" "02326" "SYNGAP1_000059" "g.33411463C>G" "" "" "" "SYNGAP1(NM_006772.2):c.3134C>G (p.(Ala1045Gly)), SYNGAP1(NM_006772.3):c.3134C>G (p.A1045G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33443686C>G" "" "likely benign" "" "0000314322" "0" "30" "6" "33411567" "33411567" "subst" "0" "02326" "SYNGAP1_000062" "g.33411567G>A" "" "" "" "SYNGAP1(NM_006772.3):c.3238G>A (p.A1080T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33443790G>A" "" "likely benign" "" "0000314323" "0" "30" "6" "33411583" "33411583" "subst" "0" "02326" "SYNGAP1_000063" "g.33411583G>A" "" "" "" "SYNGAP1(NM_006772.3):c.3254G>A (p.R1085Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33443806G>A" "" "likely benign" "" "0000314324" "0" "10" "6" "33411673" "33411673" "subst" "0.00978987" "02326" "SYNGAP1_000007" "g.33411673T>C" "" "" "" "SYNGAP1(NM_006772.3):c.3344T>C (p.I1115T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33443896T>C" "" "benign" "" "0000314325" "0" "30" "6" "33419646" "33419646" "subst" "0" "02326" "SYNGAP1_000071" "g.33419646C>T" "" "" "" "SYNGAP1(NM_006772.3):c.3995C>T (p.T1332M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33451869C>T" "" "likely benign" "" "0000314326" "0" "70" "6" "33400583" "33400583" "subst" "0" "02326" "SYNGAP1_000032" "g.33400583G>C" "" "" "" "SYNGAP1(NM_006772.3):c.509G>C (p.R170P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33432806G>C" "" "likely pathogenic" "" "0000314327" "0" "30" "6" "33403022" "33403022" "subst" "1.62425E-5" "02326" "SYNGAP1_000035" "g.33403022T>G" "" "" "" "SYNGAP1(NM_006772.3):c.603T>G (p.D201E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33435245T>G" "" "likely benign" "" "0000314328" "0" "10" "6" "33391175" "33391175" "subst" "0" "02326" "SYNGAP1_000027" "g.33391175T>G" "" "" "" "SYNGAP1(NM_006772.3):c.68-79T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33423398T>G" "" "benign" "" "0000314329" "0" "10" "6" "33403509" "33403509" "subst" "0" "02326" "SYNGAP1_000037" "g.33403509T>A" "" "" "" "SYNGAP1(NM_006772.3):c.762+119T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33435732T>A" "" "benign" "" "0000314330" "0" "10" "6" "33391270" "33391270" "subst" "0.00694411" "02326" "SYNGAP1_000019" "g.33391270T>C" "" "" "" "SYNGAP1(NM_006772.3):c.84T>C (p.S28=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33423493T>C" "" "benign" "" "0000316144" "0" "30" "6" "33406300" "33406300" "subst" "0.0043128" "01943" "SYNGAP1_000091" "g.33406300T>C" "" "" "" "SYNGAP1(NM_006772.2):c.1491T>C (p.Y497=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33438523T>C" "" "likely benign" "" "0000316145" "0" "90" "6" "33406324" "33406324" "subst" "0" "01943" "SYNGAP1_000042" "g.33406324C>G" "" "" "" "SYNGAP1(NM_006772.2):c.1515C>G (p.Y505*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33438547C>G" "" "pathogenic" "" "0000316146" "0" "50" "6" "33408631" "33408631" "subst" "0" "01943" "SYNGAP1_000047" "g.33408631C>G" "" "" "" "SYNGAP1(NM_006772.2):c.1802C>G (p.A601G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33440854C>G" "" "VUS" "" "0000316147" "0" "30" "6" "33410987" "33410987" "subst" "0.000106522" "01943" "SYNGAP1_000053" "g.33410987G>A" "" "" "" "SYNGAP1(NM_006772.2):c.2658G>A (p.A886=), SYNGAP1(NM_006772.3):c.2658G>A (p.A886=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33443210G>A" "" "likely benign" "" "0000316148" "0" "90" "6" "33411228" "33411228" "subst" "0" "01943" "SYNGAP1_000056" "g.33411228C>T" "" "" "" "SYNGAP1(NM_006772.2):c.2899C>T (p.R967*), SYNGAP1(NM_006772.3):c.2899C>T (p.R967*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33443451C>T" "" "pathogenic" "" "0000316149" "0" "90" "6" "33414426" "33414426" "subst" "0" "01943" "SYNGAP1_000068" "g.33414426T>G" "" "" "" "SYNGAP1(NM_006772.2):c.3657T>G (p.Y1219*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33446649T>G" "" "pathogenic" "" "0000330960" "0" "50" "6" "33384689" "33384689" "subst" "0" "01804" "CUTA_000002" "g.33384689G>A" "" "" "" "CUTA(NM_001014433.2):c.470+8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33416912G>A" "" "VUS" "" "0000330961" "0" "30" "6" "33385887" "33385887" "subst" "0.00991309" "01804" "CUTA_000003" "g.33385887A>G" "" "" "" "CUTA(NM_001014433.2):c.76T>C (p.(Ser26Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33418110A>G" "" "likely benign" "" "0000330962" "0" "50" "6" "33399988" "33399988" "subst" "0" "01804" "SYNGAP1_000031" "g.33399988T>C" "" "" "" "SYNGAP1(NM_006772.2):c.346T>C (p.(Tyr116His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33432211T>C" "" "VUS" "" "0000330965" "0" "50" "6" "33406668" "33406668" "subst" "0" "01804" "SYNGAP1_000043" "g.33406668G>C" "" "" "" "SYNGAP1(NM_006772.2):c.1648G>C (p.(Ala550Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33438891G>C" "" "VUS" "" "0000330967" "0" "50" "6" "33411053" "33411053" "subst" "0" "01804" "SYNGAP1_000054" "g.33411053G>C" "" "" "" "SYNGAP1(NM_006772.2):c.2724G>C (p.(Gln908His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33443276G>C" "" "VUS" "" "0000330968" "0" "30" "6" "33411193" "33411193" "subst" "3.2515E-5" "01804" "SYNGAP1_000055" "g.33411193C>T" "" "" "" "SYNGAP1(NM_006772.2):c.2864C>T (p.(Ser955Phe)), SYNGAP1(NM_006772.3):c.2864C>T (p.S955F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33443416C>T" "" "likely benign" "" "0000330969" "0" "50" "6" "33411562" "33411565" "del" "0" "01804" "SYNGAP1_000061" "g.33411562_33411565del" "" "" "" "SYNGAP1(NM_006772.2):c.3230_3233del (p.(Val1078AlafsTer51)), SYNGAP1(NM_006772.3):c.3233_3236delTCAG (p.V1078Afs*51)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33443785_33443788del" "" "VUS" "" "0000330972" "0" "30" "6" "33419614" "33419615" "del" "0" "01804" "SYNGAP1_000070" "g.33419614_33419615del" "" "" "" "SYNGAP1(NM_001130066.1):c.*35_*36del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33451837_33451838del" "" "likely benign" "" "0000330973" "0" "30" "6" "33423004" "33423004" "subst" "0.00206284" "01804" "ZBTB9_000001" "g.33423004C>G" "" "" "" "ZBTB9(NM_152735.3):c.127C>G (p.(Leu43Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33455227C>G" "" "likely benign" "" "0000330976" "0" "50" "6" "33423998" "33423998" "subst" "2.06097E-5" "01804" "ZBTB9_000004" "g.33423998G>T" "" "" "" "ZBTB9(NM_152735.3):c.1121G>T (p.(Gly374Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33456221G>T" "" "VUS" "" "0000337816" "0" "90" "6" "33406698" "33406698" "subst" "0" "02327" "SYNGAP1_000074" "g.33406698T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33438921T>C" "" "pathogenic" "" "0000351128" "0" "90" "6" "33402928" "33402928" "subst" "0" "02327" "SYNGAP1_000072" "g.33402928G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33435151G>A" "" "pathogenic" "" "0000351129" "0" "90" "6" "33403291" "33403291" "subst" "0" "02327" "SYNGAP1_000073" "g.33403291G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33435514G>C" "" "pathogenic" "" "0000404699" "0" "70" "6" "33411529" "33411529" "del" "0" "00006" "SYNGAP1_000076" "g.33411529del" "" "{PMID:Tumien? 2018:29286531}" "" "" "" "De novo" "" "" "0" "" "" "g.33443752del" "" "likely pathogenic" "ACMG" "0000407947" "0" "90" "6" "33402928" "33402928" "subst" "0" "00006" "SYNGAP1_000072" "g.33402928G>A" "" "{PMID:de Ligt 2012:23033978}" "" "NM_006772.2:c.510-1G>A (spl)" "" "De novo" "" "" "0" "" "" "g.33435151G>A" "" "pathogenic" "" "0000435559" "1" "95" "6" "33399963" "33399966" "del" "0" "00028" "SYNGAP1_000005" "g.33399963_33399966del" "" "{PMID:Hamdan 2011:21237447}" "" "" "confirmed by bidirectional Sanger sequencing" "De novo" "" "" "0" "" "" "g.33432186_33432189del" "" "pathogenic" "" "0000435560" "1" "95" "6" "33400486" "33400486" "subst" "0" "00028" "SYNGAP1_000001" "g.33400486A>T" "" "{PMID:Hamdan 2009:19196676}, {OMIM603384:0001}" "" "" "confirmed by bidirectional Sanger sequencing" "De novo" "" "" "0" "" "" "g.33432709A>T" "" "pathogenic" "" "0000435561" "1" "95" "6" "33408564" "33408564" "subst" "0" "00028" "SYNGAP1_000002" "g.33408564C>T" "" "{PMID:Hamdan 2009:19196676}, {OMIM603384:0002}" "" "" "" "De novo" "" "" "0" "" "" "g.33440787C>T" "" "pathogenic" "" "0000435562" "1" "95" "6" "33409537" "33409537" "subst" "0" "00028" "SYNGAP1_000006" "g.33409537G>A" "" "{PMID:Hamdan 2011:21237447}" "" "" "confirmed by bidirectional Sanger sequencing; variant causes skipping of exon-13" "De novo" "" "" "0" "" "" "g.33441760G>A" "" "pathogenic" "" "0000435563" "1" "95" "6" "33410767" "33410767" "del" "0" "00028" "SYNGAP1_000003" "g.33410767del" "" "{PMID:Hamdan 2009:19196676}, {OMIM603384:0003}" "" "" "conformed by bidirectional Sanger sequencing" "De novo" "" "" "0" "" "" "g.33442990del" "" "pathogenic" "" "0000435564" "1" "95" "6" "33411006" "33411006" "del" "0" "00028" "SYNGAP1_000004" "g.33411006del" "" "{PMID:Hamdan 2011:21237447}" "" "" "confirmed by biderectional Sanger sequencing" "De novo" "" "" "0" "" "" "g.33443229del" "" "pathogenic" "" "0000435565" "0" "95" "6" "33402928" "33402928" "subst" "0" "00028" "SYNGAP1_000015" "g.33402928G>A" "" "{PMID:de Ligt 2012:23033978}" "" "" "mutation may cause exon skipping" "De novo" "" "" "0" "" "" "g.33435151G>A" "" "pathogenic" "" "0000435566" "0" "95" "6" "33405935" "33405936" "del" "0" "00028" "SYNGAP1_000014" "g.33405935_33405936del" "" "{PMID:Rauch 2012:23020937}" "" "" "" "De novo" "" "" "0" "" "" "g.33438158_33438159del" "" "pathogenic" "" "0000435567" "0" "95" "6" "33410959" "33410959" "dup" "0" "00028" "SYNGAP1_000013" "g.33410959dup" "" "{PMID:Rauch 2012:23020937}" "" "" "" "De novo" "" "" "0" "" "" "g.33443182dup" "" "pathogenic" "" "0000435568" "11" "95" "6" "33393668" "33393668" "dup" "0" "00028" "SYNGAP1_000008" "g.33393668dup" "" "{PMID:Berryer 2012:23161826}" "" "" "confirmed by bidirectional Sanger sequencing; variant inherited from her father (who is mosaic)" "Germline" "" "" "0" "" "" "g.33425891dup" "" "pathogenic" "" "0000435569" "0" "90" "6" "33405725" "33405726" "del" "0" "00028" "SYNGAP1_000107" "g.33405725_33405726del" "" "{PMID:Vissers 2010:21076407}" "" "c.998_999del" "variant published as NM_006772:c.998_999del (p.Val333Alafs*); confirmed by bidirectional Sanger sequencing" "De novo" "" "" "0" "" "" "g.33437948_33437949del" "" "pathogenic (dominant)" "" "0000435570" "0" "95" "6" "33405766" "33405766" "subst" "0" "00028" "SYNGAP1_000009" "g.33405766T>C" "" "{PMID:Berryer 2012:23161826}" "" "" "confirmed by bidirectional Sanger Sequencing" "De novo" "" "" "0" "" "" "g.33437989T>C" "" "pathogenic" "" "0000435571" "0" "95" "6" "33408514" "33408514" "subst" "0" "00028" "SYNGAP1_000010" "g.33408514C>T" "" "{PMID:Berryer 2012:23161826}" "" "" "confirmed by bidirectional Sanger sequencing" "De novo" "" "" "0" "" "" "g.33440737C>T" "" "pathogenic" "" "0000435572" "0" "95" "6" "33409426" "33409426" "del" "0" "00028" "SYNGAP1_000012" "g.33409426del" "" "{PMID:Berryer 2012:23161826}" "" "" "confirmed by bidirectional Sanger sequencing" "De novo" "" "" "0" "" "" "g.33441649del" "" "pathogenic" "" "0000435573" "0" "95" "6" "33409454" "33409455" "del" "0" "00028" "SYNGAP1_000011" "g.33409454_33409455del" "" "{PMID:Berryer 2012:23161826}" "" "" "confirmed by bidirectional Sanger sequence" "De novo" "" "" "0" "" "" "g.33441677_33441678del" "" "pathogenic" "" "0000454351" "0" "70" "6" "33406194" "33406194" "del" "0" "01807" "SYNGAP1_000108" "g.33406194del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.33438417del" "" "likely pathogenic" "" "0000528692" "0" "30" "6" "33393601" "33393601" "subst" "1.63785E-5" "02326" "SYNGAP1_000109" "g.33393601G>C" "" "" "" "SYNGAP1(NM_006772.3):c.216G>C (p.R72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33425824G>C" "" "likely benign" "" "0000528693" "0" "90" "6" "33399975" "33399975" "del" "0" "02327" "SYNGAP1_000110" "g.33399975del" "" "" "" "SYNGAP1(NM_006772.2):c.333del (p.(Lys114Serfs*20))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33432198del" "" "pathogenic" "" "0000528694" "0" "50" "6" "33400459" "33400459" "subst" "0" "02329" "SYNGAP1_000111" "g.33400459C>G" "" "" "" "SYNGAP1(NM_006772.3):c.388-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33432682C>G" "" "VUS" "" "0000528695" "0" "90" "6" "33400477" "33400477" "subst" "0" "02325" "SYNGAP1_000112" "g.33400477C>T" "" "" "" "SYNGAP1(NM_006772.3):c.403C>T (p.R135*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33432700C>T" "" "pathogenic" "" "0000528696" "0" "90" "6" "33400501" "33400501" "subst" "0" "02327" "SYNGAP1_000113" "g.33400501C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33432724C>T" "" "pathogenic" "" "0000528697" "0" "70" "6" "33400583" "33400583" "subst" "0" "02329" "SYNGAP1_000114" "g.33400583G>T" "" "" "" "SYNGAP1(NM_006772.3):c.509G>T (p.R170L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33432806G>T" "" "likely pathogenic" "" "0000528698" "0" "70" "6" "33402983" "33403002" "del" "0" "01804" "SYNGAP1_000115" "g.33402983_33403002del" "" "" "" "SYNGAP1(NM_006772.2):c.563_582del (p.(Pro189IlefsTer7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33435206_33435225del" "" "likely pathogenic" "" "0000528699" "0" "50" "6" "33403320" "33403320" "subst" "0" "02325" "SYNGAP1_000116" "g.33403320T>C" "" "" "" "SYNGAP1(NM_006772.3):c.692T>C (p.F231S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33435543T>C" "" "VUS" "" "0000528700" "0" "50" "6" "33405881" "33405881" "subst" "0" "02327" "SYNGAP1_000117" "g.33405881T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33438104T>G" "" "VUS" "" "0000528702" "0" "50" "6" "33405974" "33405974" "subst" "0" "02327" "SYNGAP1_000119" "g.33405974T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33438197T>C" "" "VUS" "" "0000528703" "0" "70" "6" "33408514" "33408514" "subst" "0" "02325" "SYNGAP1_000010" "g.33408514C>T" "" "" "" "SYNGAP1(NM_006772.3):c.1685C>T (p.P562L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33440737C>T" "" "likely pathogenic" "" "0000528704" "0" "30" "6" "33408605" "33408605" "subst" "0.00160431" "01943" "SYNGAP1_000120" "g.33408605A>G" "" "" "" "SYNGAP1(NM_006772.2):c.1776A>G (p.S592=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33440828A>G" "" "likely benign" "" "0000528705" "0" "90" "6" "33408688" "33408688" "subst" "0" "02325" "SYNGAP1_000121" "g.33408688C>G" "" "" "" "SYNGAP1(NM_006772.3):c.1859C>G (p.S620*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33440911C>G" "" "pathogenic" "" "0000528706" "0" "90" "6" "33408690" "33408690" "subst" "0" "02327" "SYNGAP1_000122" "g.33408690C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33440913C>T" "" "pathogenic" "" "0000528707" "0" "30" "6" "33409052" "33409052" "subst" "0.000560388" "01943" "SYNGAP1_000123" "g.33409052G>A" "" "" "" "SYNGAP1(NM_006772.2):c.2016G>A (p.T672=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33441275G>A" "" "likely benign" "" "0000528708" "0" "90" "6" "33410664" "33410664" "subst" "0" "02325" "SYNGAP1_000124" "g.33410664A>C" "" "" "" "SYNGAP1(NM_006772.3):c.2337-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33442887A>C" "" "pathogenic" "" "0000528709" "0" "90" "6" "33411084" "33411084" "subst" "0" "02327" "SYNGAP1_000125" "g.33411084C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33443307C>T" "" "pathogenic" "" "0000528710" "0" "90" "6" "33411093" "33411093" "subst" "0" "02329" "SYNGAP1_000025" "g.33411093C>T" "" "" "" "SYNGAP1(NM_006772.3):c.2764C>T (p.R922*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33443316C>T" "" "pathogenic" "" "0000528711" "0" "50" "6" "33411166" "33411166" "subst" "8.13312E-6" "02329" "SYNGAP1_000126" "g.33411166G>A" "" "" "" "SYNGAP1(NM_006772.2):c.2837G>A (p.G946E), SYNGAP1(NM_006772.3):c.2837G>A (p.G946E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33443389G>A" "" "VUS" "" "0000528712" "0" "10" "6" "33411299" "33411299" "subst" "0.023476" "02326" "SYNGAP1_000081" "g.33411299C>T" "" "" "" "SYNGAP1(NM_006772.3):c.2970C>T (p.S990=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33443522C>T" "" "benign" "" "0000528713" "0" "30" "6" "33411463" "33411463" "subst" "0.00249439" "01804" "SYNGAP1_000059" "g.33411463C>G" "" "" "" "SYNGAP1(NM_006772.2):c.3134C>G (p.(Ala1045Gly)), SYNGAP1(NM_006772.3):c.3134C>G (p.A1045G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33443686C>G" "" "likely benign" "" "0000528716" "0" "30" "6" "33412399" "33412399" "subst" "0" "02327" "SYNGAP1_000128" "g.33412399G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33444622G>A" "" "likely benign" "" "0000528717" "0" "30" "6" "33412401" "33412401" "subst" "0.000337959" "01943" "SYNGAP1_000129" "g.33412401T>C" "" "" "" "SYNGAP1(NM_006772.2):c.3582+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33444624T>C" "" "likely benign" "" "0000528718" "0" "50" "6" "33414487" "33414487" "subst" "0" "02329" "SYNGAP1_000130" "g.33414487C>G" "" "" "" "SYNGAP1(NM_006772.3):c.3718C>G (p.R1240G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33446710C>G" "" "VUS" "" "0000528719" "0" "50" "6" "33415702" "33415702" "subst" "0" "02325" "SYNGAP1_000131" "g.33415702G>A" "" "" "" "SYNGAP1(NM_006772.3):c.3877G>A (p.D1293N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33447925G>A" "" "VUS" "" "0000528720" "0" "30" "6" "33419613" "33419613" "dup" "0" "01804" "SYNGAP1_000132" "g.33419613dup" "" "" "" "SYNGAP1(NM_006772.2):c.3962dup (p.(Ala1322SerfsTer41))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33451836dup" "" "likely benign" "" "0000528721" "0" "50" "6" "33419615" "33419615" "subst" "0" "01804" "SYNGAP1_000133" "g.33419615G>A" "" "" "" "SYNGAP1(NM_006772.2):c.3964G>A (p.(Ala1322Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33451838G>A" "" "VUS" "" "0000528722" "0" "30" "6" "33419615" "33419615" "subst" "0" "01804" "SYNGAP1_000134" "g.33419615G>C" "" "" "" "SYNGAP1(NM_006772.2):c.3964delinsC (p.(Ala1322Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33451838G>C" "" "likely benign" "" "0000528723" "0" "30" "6" "33419617" "33419619" "dup" "0" "01804" "SYNGAP1_000135" "g.33419617_33419619dup" "" "" "" "SYNGAP1(NM_006772.2):c.3964_3965insCCC (p.(Ala1322_Pro1323insPro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33451840_33451842dup" "" "likely benign" "" "0000528724" "0" "30" "6" "33419620" "33419620" "del" "0" "01804" "SYNGAP1_000136" "g.33419620del" "" "" "" "SYNGAP1(NM_006772.2):c.3969delA (p.(Pro1324HisfsTer65))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33451843del" "" "likely benign" "" "0000528725" "0" "30" "6" "33419634" "33419634" "subst" "0" "01804" "SYNGAP1_000137" "g.33419634G>C" "" "" "" "SYNGAP1(NM_006772.2):c.3983G>C (p.(Arg1328Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33451857G>C" "" "likely benign" "" "0000578294" "0" "70" "6" "33414445" "33414445" "subst" "0" "01164" "SYNGAP1_000138" "g.33414445C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33446668C>T" "" "likely pathogenic" "ACMG" "0000595598" "0" "90" "6" "33408573" "33408573" "del" "0" "01164" "SYNGAP1_000139" "g.33408573del" "" "" "" "" "ACMG grading: PM6,PVS1,PM2" "Germline" "" "" "0" "" "" "g.33440796del" "" "pathogenic" "ACMG" "0000610322" "0" "30" "6" "33406601" "33406601" "subst" "0.000337028" "02326" "SYNGAP1_000141" "g.33406601C>T" "" "" "" "SYNGAP1(NM_006772.3):c.1581C>T (p.D527=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33438824C>T" "" "likely benign" "" "0000610323" "0" "90" "6" "33409095" "33409095" "subst" "0" "02327" "SYNGAP1_000049" "g.33409095C>T" "" "" "" "SYNGAP1(NM_006772.3):c.2059C>T (p.R687*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33441318C>T" "" "pathogenic" "" "0000610324" "0" "90" "6" "33411093" "33411093" "subst" "0" "02327" "SYNGAP1_000025" "g.33411093C>T" "" "" "" "SYNGAP1(NM_006772.3):c.2764C>T (p.R922*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33443316C>T" "" "pathogenic" "" "0000610325" "0" "50" "6" "33419620" "33419623" "del" "0" "01804" "SYNGAP1_000142" "g.33419620_33419623del" "" "" "" "SYNGAP1(NM_006772.2):c.3969_3972del (p.(Pro1325HisfsTer63))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33451843_33451846del" "" "VUS" "" "0000647273" "0" "50" "6" "33408582" "33408582" "subst" "4.06759E-6" "01164" "SYNGAP1_000143" "g.33408582G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33440805G>A" "" "VUS" "ACMG" "0000651947" "1" "10" "6" "33411673" "33411673" "subst" "0.00978987" "03575" "SYNGAP1_000007" "g.33411673T>C" "16/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "16 heterozygous, no homozygous; {DB:CLININrs191549504}" "Germline" "" "rs191549504" "0" "" "" "g.33443896T>C" "" "benign" "" "0000655582" "0" "90" "6" "33411632" "33411632" "dup" "0" "02329" "SYNGAP1_000144" "g.33411632dup" "" "" "" "SYNGAP1(NM_006772.3):c.3303dupC (p.A1102Rfs*51)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33443855dup" "" "pathogenic" "" "0000660442" "0" "70" "6" "33405849" "33405849" "del" "0" "01164" "SYNGAP1_000145" "g.33405849del" "" "" "" "" "PVS1, PM2, PS4_supporting; class 5" "Germline" "" "" "0" "" "" "g.33438072del" "" "likely pathogenic" "" "0000660579" "0" "90" "6" "33414346" "33414346" "subst" "0" "00006" "SYNGAP1_000146" "g.33414346G>A" "" "{PMID:Redin 2014:25167861}" "" "" "" "De novo" "" "" "0" "" "" "g.33446569G>A" "" "pathogenic (dominant)" "" "0000667477" "0" "70" "6" "33412306" "33412306" "subst" "0" "00006" "SYNGAP1_000147" "g.33412306C>T" "" "{PMID:Fieremans 2016:27159028}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.33444529C>T" "" "likely pathogenic" "" "0000667565" "0" "70" "6" "33414487" "33414487" "subst" "0" "00006" "SYNGAP1_000155" "g.33414487C>T" "" "{PMID:Helbig 2016:26795593}" "" "" "has VUS in ANK3" "De novo" "" "" "0" "" "" "g.33446710C>T" "" "likely pathogenic (dominant)" "ACMG" "0000667652" "0" "90" "6" "33405482" "33405482" "" "0" "00006" "SYNGAP1_000151" "g.33405482^33405483G>A" "" "{PMID:Carvill 2013:23708187}" "" "Trp267*" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000667653" "0" "90" "6" "33409140" "33409140" "subst" "0" "00006" "SYNGAP1_000154" "g.33409140C>T" "" "{PMID:Carvill 2013:23708187}" "" "Gln702*" "" "De novo" "" "" "0" "" "" "g.33441363C>T" "" "pathogenic (dominant)" "" "0000667658" "0" "70" "6" "33399964" "33399967" "del" "0" "00006" "SYNGAP1_000152" "g.(33399964_33399967del)" "" "{PMID:Carvill 2013:23708187}" "" "Lys108Valfs*25" "Variant Error [ESYNTAX]: This genomic variant has an error (char 33: expected one of \')\', or a digit). Please fix this entry and then remove this message." "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000667659" "0" "70" "6" "33400461" "33400461" "subst" "0" "00006" "SYNGAP1_000153" "g.33400461A>T" "" "{PMID:Carvill 2013:23708187}" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000667660" "0" "70" "6" "33400501" "33400501" "subst" "0" "00006" "SYNGAP1_000113" "g.33400501C>T" "" "{PMID:Carvill 2013:23708187}" "" "Arg143*" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.33432724C>T" "" "likely pathogenic (dominant)" "" "0000667716" "0" "90" "6" "33273955" "34086729" "del" "0" "00006" "SYNGAP1_000148" "g.(33259651_33273955)_(34086729_34209880)del" "" "{PMID:Krepischi 2010:20683986}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000667717" "0" "90" "6" "33400000" "33700000" "del" "0" "00006" "SYNGAP1_000148" "g.(33300000_33400000)_(33700000_33800000)del" "" "{PMID:Zollino 2011:21119708}" "" "del 33.4-33.7 Mb" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000667718" "0" "90" "6" "0" "0" "" "0" "00006" "SYNGAP1_000149" "g.pter_(33387847_33417772)delins[NC_000022.10:17900001_25900000_qterinv]" "" "{PMID:Klitten 2011:22050443}" "" "" "" "De novo" "" "" "0" "" "46,XY,t(6;22)(p21.3;q11.2)" "" "" "pathogenic (dominant)" "" "0000667721" "0" "90" "6" "0" "0" "" "0" "00006" "SYNGAP1_000149" "g.[NC_000022.10:17900001_25900000_qter]delinspter_(33387847_33417772)inv" "" "{PMID:Klitten 2011:22050443}" "" "" "" "DUPLICATE record" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000667722" "0" "90" "6" "33356364" "33406339" "del" "0" "00006" "SYNGAP1_000150" "g.(?_33356364)_(33406339_?)del" "" "{PMID:Wirtzl 2013:23687080}" "" "" "" "De novo" "" "" "0" "" "6p21.3(33,356,364–33,406,339)×1" "" "" "pathogenic (dominant)" "" "0000673710" "0" "70" "6" "33400583" "33400583" "subst" "0" "00006" "SYNGAP1_000023" "g.33400583G>A" "" "{PMID:Johannesen 2020:32427350}" "" "" "ACMG PS1, PM2, PP2, PP3; mother not available" "Germline/De novo (untested)" "" "" "0" "" "" "g.33432806G>A" "" "likely pathogenic" "ACMG" "0000677759" "0" "30" "6" "33400521" "33400521" "subst" "0.000109664" "02326" "SYNGAP1_000156" "g.33400521A>G" "" "" "" "SYNGAP1(NM_006772.3):c.447A>G (p.K149=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677760" "0" "30" "6" "33408641" "33408641" "subst" "9.3398E-5" "02326" "SYNGAP1_000157" "g.33408641G>A" "" "" "" "SYNGAP1(NM_006772.3):c.1812G>A (p.S604=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677761" "0" "30" "6" "33419619" "33419620" "ins" "0" "02325" "SYNGAP1_000158" "g.33419619_33419620insCCCCCCCCCCC" "" "" "" "SYNGAP1(NM_006772.3):c.3968_3969insCCCCCCCCCCC (p.P1327Hfs*66)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000704173" "0" "90" "6" "33411303" "33411303" "del" "0" "01807" "SYNGAP1_000159" "g.33411303del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.33443526del" "" "pathogenic" "" "0000720896" "0" "70" "6" "33391277" "33391277" "subst" "0" "02329" "SYNGAP1_000140" "g.33391277C>T" "" "" "" "SYNGAP1(NM_006772.3):c.91C>T (p.R31*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720897" "0" "70" "6" "33405892" "33405892" "subst" "0" "02329" "SYNGAP1_000040" "g.33405892G>C" "" "" "" "SYNGAP1(NM_006772.3):c.1210G>C (p.A404P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720898" "0" "90" "6" "33408564" "33408564" "subst" "0" "02329" "SYNGAP1_000002" "g.33408564C>T" "" "" "" "SYNGAP1(NM_006772.3):c.1735C>T (p.R579*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720899" "0" "90" "6" "33409095" "33409095" "subst" "0" "02329" "SYNGAP1_000049" "g.33409095C>T" "" "" "" "SYNGAP1(NM_006772.3):c.2059C>T (p.R687*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720900" "0" "90" "6" "33411228" "33411228" "subst" "0" "02327" "SYNGAP1_000056" "g.33411228C>T" "" "" "" "SYNGAP1(NM_006772.2):c.2899C>T (p.R967*), SYNGAP1(NM_006772.3):c.2899C>T (p.R967*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720901" "0" "90" "6" "33411265" "33411265" "del" "0" "02329" "SYNGAP1_000057" "g.33411265del" "" "" "" "SYNGAP1(NM_006772.3):c.2936delT (p.F979Sfs*98)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720902" "0" "90" "6" "33411645" "33411645" "subst" "0" "02329" "SYNGAP1_000127" "g.33411645C>T" "" "" "" "SYNGAP1(NM_006772.3):c.3316C>T (p.Q1106*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720903" "0" "90" "6" "33414353" "33414353" "dup" "0" "02327" "SYNGAP1_000160" "g.33414353dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720904" "0" "30" "6" "33419619" "33419620" "ins" "0" "02325" "SYNGAP1_000161" "g.33419619_33419620insCCCCCCC" "" "" "" "SYNGAP1(NM_006772.3):c.3968_3969insCCCCCCC (p.P1326Tfs*39)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000763102" "1" "90" "6" "33402954" "33402954" "del" "0" "00006" "SYNGAP1_000162" "g.33402954del" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PVS1, PS2" "De novo" "" "" "0" "" "" "g.33435177del" "" "pathogenic" "ACMG" "0000787065" "0" "70" "6" "33406611" "33406612" "del" "0" "00006" "SYNGAP1_000163" "g.33406611_33406612del" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.33438834_33438835del" "" "likely pathogenic" "" "0000787066" "0" "70" "6" "33410804" "33410807" "dup" "0" "00006" "SYNGAP1_000164" "g.33410804_33410807dup" "" "{PMID:Ganapathy 2019:31069529}" "" "c.2474_2477dupCGGA" "" "Germline" "" "" "0" "" "" "g.33443027_33443030dup" "" "likely pathogenic" "" "0000802560" "0" "70" "6" "33400583" "33400583" "subst" "0" "02329" "SYNGAP1_000023" "g.33400583G>A" "" "" "" "SYNGAP1(NM_006772.3):c.509G>A (p.R170Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000802561" "0" "50" "6" "33405598" "33405598" "subst" "0" "01943" "SYNGAP1_000165" "g.33405598G>A" "" "" "" "SYNGAP1(NM_006772.2):c.916G>A (p.V306I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802562" "0" "50" "6" "33405772" "33405772" "subst" "0" "02325" "SYNGAP1_000166" "g.33405772C>G" "" "" "" "SYNGAP1(NM_006772.3):c.1090C>G (p.P364A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802563" "0" "50" "6" "33406659" "33406659" "subst" "0" "01943" "SYNGAP1_000167" "g.33406659T>C" "" "" "" "SYNGAP1(NM_006772.2):c.1639T>C (p.C547R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802564" "0" "90" "6" "33408546" "33408546" "subst" "0" "02327" "SYNGAP1_000168" "g.33408546C>T" "" "" "" "SYNGAP1(NM_006772.3):c.1717C>T (p.R573W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000802565" "0" "50" "6" "33408559" "33408559" "subst" "0" "01943" "SYNGAP1_000169" "g.33408559C>T" "" "" "" "SYNGAP1(NM_006772.2):c.1730C>T (p.A577V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802566" "0" "90" "6" "33408564" "33408564" "subst" "0" "02325" "SYNGAP1_000002" "g.33408564C>T" "" "" "" "SYNGAP1(NM_006772.3):c.1735C>T (p.R579*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000802567" "0" "50" "6" "33409460" "33409460" "subst" "0" "01943" "SYNGAP1_000170" "g.33409460C>T" "" "" "" "SYNGAP1(NM_006772.2):c.2218C>T (p.R740W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802568" "0" "50" "6" "33410697" "33410697" "subst" "0" "01943" "SYNGAP1_000171" "g.33410697A>G" "" "" "" "SYNGAP1(NM_006772.2):c.2368A>G (p.T790A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802569" "0" "90" "6" "33414564" "33414564" "subst" "0" "02327" "SYNGAP1_000172" "g.33414564G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000802570" "0" "30" "6" "33419635" "33419635" "subst" "0" "01943" "SYNGAP1_000173" "g.33419635G>C" "" "" "" "SYNGAP1(NM_006772.2):c.3984G>C (p.R1328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810748" "0" "90" "6" "33408514" "33408514" "subst" "0" "03779" "SYNGAP1_000010" "g.33408514C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs397514670" "0" "" "" "" "" "pathogenic" "" "0000823734" "0" "50" "6" "33408949" "33408949" "subst" "0" "02494" "SYNGAP1_000174" "g.33408949G>A" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "VUS" "" "0000844207" "0" "90" "6" "33410691" "33410695" "del" "0" "03779" "SYNGAP1_000175" "g.33410691_33410695del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000851203" "0" "50" "6" "33405652" "33405652" "subst" "0" "02327" "SYNGAP1_000177" "g.33405652C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851204" "0" "70" "6" "33408546" "33408546" "subst" "0" "02325" "SYNGAP1_000168" "g.33408546C>T" "" "" "" "SYNGAP1(NM_006772.3):c.1717C>T (p.R573W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000851205" "0" "30" "6" "33410772" "33410772" "subst" "0" "02327" "SYNGAP1_000179" "g.33410772C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851206" "0" "50" "6" "33411166" "33411166" "subst" "8.13312E-6" "01943" "SYNGAP1_000126" "g.33411166G>A" "" "" "" "SYNGAP1(NM_006772.2):c.2837G>A (p.G946E), SYNGAP1(NM_006772.3):c.2837G>A (p.G946E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851207" "0" "50" "6" "33411445" "33411445" "subst" "4.06752E-6" "01943" "SYNGAP1_000181" "g.33411445T>C" "" "" "" "SYNGAP1(NM_006772.2):c.3116T>C (p.I1039T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860323" "0" "90" "6" "33399975" "33399975" "del" "0" "01804" "SYNGAP1_000110" "g.33399975del" "" "" "" "SYNGAP1(NM_006772.2):c.333del (p.(Lys114Serfs*20))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000860324" "0" "30" "6" "33403336" "33403336" "subst" "1.21834E-5" "01943" "SYNGAP1_000176" "g.33403336G>T" "" "" "" "SYNGAP1(NM_006772.2):c.708G>T (p.A236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860325" "0" "90" "6" "33406592" "33406592" "subst" "0" "02326" "SYNGAP1_000178" "g.33406592C>A" "" "" "" "SYNGAP1(NM_006772.3):c.1572C>A (p.C524*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000860326" "0" "50" "6" "33410772" "33410772" "subst" "0" "01943" "SYNGAP1_000180" "g.33410772C>G" "" "" "" "SYNGAP1(NM_006772.2):c.2443C>G (p.R815G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860327" "0" "50" "6" "33411679" "33411679" "subst" "0" "02329" "SYNGAP1_000182" "g.33411679G>T" "" "" "" "SYNGAP1(NM_006772.3):c.3350G>T (p.G1117V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000871140" "0" "90" "6" "33400477" "33400477" "subst" "0" "00006" "SYNGAP1_000112" "g.33400477C>T" "" "{PMID:Halvardson 2016:27334371}" "" "C403T (R135X)" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000887215" "0" "70" "6" "33405650" "33405650" "subst" "0" "02327" "SYNGAP1_000183" "g.33405650T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000887217" "0" "50" "6" "33408696" "33408696" "subst" "0" "02329" "SYNGAP1_000185" "g.33408696C>G" "" "" "" "SYNGAP1(NM_006772.3):c.1867C>G (p.L623V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887218" "0" "90" "6" "33411562" "33411565" "del" "0" "02325" "SYNGAP1_000061" "g.33411562_33411565del" "" "" "" "SYNGAP1(NM_006772.2):c.3230_3233del (p.(Val1078AlafsTer51)), SYNGAP1(NM_006772.3):c.3233_3236delTCAG (p.V1078Afs*51)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887219" "0" "90" "6" "33414487" "33414487" "subst" "0" "02327" "SYNGAP1_000155" "g.33414487C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000908547" "21" "50" "6" "33419573" "33419573" "subst" "8.25464E-6" "00006" "SYNGAP1_000186" "g.33419573C>T" "" "{PMID:Zhou 2018:29314583}" "" "R1308C" "" "Germline" "" "" "0" "" "" "g.33451796C>T" "" "VUS" "ACMG" "0000912483" "0" "70" "6" "33388110" "33388110" "subst" "0" "02327" "CUTA_000007" "g.33388110T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000912484" "0" "90" "6" "33400564" "33400564" "subst" "0" "02327" "SYNGAP1_000187" "g.33400564C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912485" "0" "70" "6" "33408547" "33408547" "subst" "0" "02329" "SYNGAP1_000188" "g.33408547G>A" "" "" "" "SYNGAP1(NM_006772.3):c.1718G>A (p.R573Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000912486" "0" "70" "6" "33408663" "33408663" "subst" "0" "02327" "SYNGAP1_000189" "g.33408663C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000912487" "0" "50" "6" "33409029" "33409029" "subst" "0" "02325" "SYNGAP1_000190" "g.33409029T>C" "" "" "" "SYNGAP1(NM_006772.3):c.1993T>C (p.Y665H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912488" "0" "30" "6" "33410698" "33410698" "subst" "4.09256E-5" "02326" "SYNGAP1_000191" "g.33410698C>A" "" "" "" "SYNGAP1(NM_006772.3):c.2369C>A (p.T790N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912489" "0" "50" "6" "33411295" "33411295" "subst" "0" "02325" "SYNGAP1_000192" "g.33411295C>G" "" "" "" "SYNGAP1(NM_006772.3):c.2966C>G (p.S989C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912490" "0" "50" "6" "33419628" "33419628" "subst" "0" "02325" "SYNGAP1_000193" "g.33419628C>A" "" "" "" "SYNGAP1(NM_006772.3):c.3977C>A (p.P1326Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924491" "0" "90" "6" "33388096" "33388096" "del" "0" "02327" "CUTA_000008" "g.33388096del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000924492" "0" "70" "6" "33403070" "33403070" "del" "0" "02325" "SYNGAP1_000194" "g.33403070del" "" "" "" "SYNGAP1(NM_006772.3):c.651delG (p.E217Dfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000924493" "0" "50" "6" "33408600" "33408600" "subst" "1.21876E-5" "02325" "SYNGAP1_000195" "g.33408600G>A" "" "" "" "SYNGAP1(NM_006772.3):c.1771G>A (p.A591T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929175" "0" "50" "6" "33391349" "33391349" "subst" "0" "02329" "SYNGAP1_000196" "g.33391349C>A" "" "" "" "SYNGAP1(NM_006772.3):c.163C>A (p.Q55K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000935988" "0" "90" "6" "33403018" "33403018" "subst" "0" "00006" "SYNGAP1_000198" "g.33403018T>A" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PVS1,PM2,PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.33435241T>A" "" "pathogenic (dominant)" "ACMG" "0000936348" "0" "90" "6" "33414517" "33414517" "subst" "0" "00006" "SYNGAP1_000197" "g.33414517C>T" "" "{PMID:Hamdan 2017:29100083}" "" "NM_006772:c.C3748T (Q1250X)" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000939828" "0" "90" "6" "33403367" "33403367" "subst" "0" "00006" "SYNGAP1_000199" "g.33403367C>T" "" "{PMID:Nambot 2018:29095811}" "" "" "" "De novo" "" "" "0" "" "" "g.33435590C>T" "" "pathogenic (dominant)" "" "0000977206" "0" "50" "6" "33405875" "33405875" "subst" "4.13517E-6" "01804" "SYNGAP1_000200" "g.33405875C>T" "" "" "" "SYNGAP1(NM_006772.2):c.1193C>T (p.(Pro398Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977207" "0" "70" "6" "33408727" "33408727" "subst" "0" "01804" "SYNGAP1_000201" "g.33408727T>C" "" "" "" "SYNGAP1(NM_006772.3):c.1898T>C (p.(Leu633Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000989199" "0" "70" "6" "33400552" "33400552" "del" "0" "03544" "SYNGAP1_000202" "g.33400552del" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.33432775del" "{CV:2129356}" "pathogenic" "ACMG" "0000995728" "0" "30" "6" "33410773" "33410773" "subst" "8.12242E-6" "01804" "SYNGAP1_000203" "g.33410773G>A" "" "" "" "SYNGAP1(NM_006772.2):c.2444G>A (p.(Arg815His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995729" "0" "30" "6" "33410998" "33410998" "subst" "2.04896E-5" "01804" "SYNGAP1_000204" "g.33410998G>A" "" "" "" "SYNGAP1(NM_006772.2):c.2669G>A (p.(Arg890His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995730" "0" "70" "6" "33411175" "33411178" "dup" "0" "01804" "SYNGAP1_000205" "g.33411175_33411178dup" "" "" "" "SYNGAP1(NM_006772.2):c.2846_2849dupGTGG (p.(His951fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000995731" "0" "30" "6" "33411385" "33411385" "subst" "2.03069E-5" "01804" "SYNGAP1_000206" "g.33411385G>A" "" "" "" "SYNGAP1(NM_006772.2):c.3056G>A (p.(Arg1019His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995732" "0" "30" "6" "33411672" "33411672" "subst" "0" "01804" "SYNGAP1_000207" "g.33411672A>C" "" "" "" "SYNGAP1(NM_006772.2):c.3343A>C (p.(Ile1115Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995733" "0" "30" "6" "33419634" "33419634" "subst" "0" "01804" "SYNGAP1_000208" "g.33419634G>A" "" "" "" "SYNGAP1(NM_006772.2):c.3983G>A (p.(Arg1328Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014213" "0" "30" "6" "33399934" "33399934" "subst" "0" "02325" "SYNGAP1_000209" "g.33399934C>T" "" "" "" "SYNGAP1(NM_006772.3):c.296-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001017577" "0" "70" "6" "33405712" "33405712" "subst" "0" "03544" "SYNGAP1_000210" "g.33405712G>A" "" "" "" "" "" "De novo" "-" "rs1760893537" "0" "" "" "g.33437935G>A" "{CV:981240}" "likely pathogenic" "ACMG" "0001018829" "0" "70" "6" "33406650" "33406650" "subst" "0" "03544" "SYNGAP1_000211" "g.33406650C>T" "" "" "" "" "" "De novo" "yes" "rs1554121443" "0" "" "" "g.33438873C>T" "{CV:522845}" "pathogenic" "ACMG" "0001035730" "0" "30" "6" "33391746" "33391746" "subst" "0" "01804" "SYNGAP1_000212" "g.33391746C>A" "" "" "" "SYNGAP1(NM_006772.3):c.189+371C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045252" "0" "50" "6" "33405940" "33405940" "subst" "0" "01164" "SYNGAP1_000213" "g.33405940T>C" "" "" "" "" "ACMG: PS4_supporting,PM2-supporting,PM5-supporting,PP2-supporting,BP4-supporting; (other nucleotide change with same aminoacid change: VUS; VCV001397885.5)" "Germline" "?" "" "" "" "" "g.33438163T>C" "VCV001397885.5" "VUS" "ACMG" "0001052326" "0" "50" "6" "33405509" "33405509" "subst" "0" "01804" "SYNGAP1_000214" "g.33405509C>T" "" "" "" "SYNGAP1(NM_006772.3):c.827C>T (p.(Pro276Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059233" "0" "90" "6" "33408658" "33408659" "dup" "0" "00006" "SYNGAP1_000215" "g.33408658_33408659dup" "" "{PMID:Retterer 2016:26633542}" "" "1829_1830dupTT" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.33440881_33440882dup" "" "pathogenic" "" ## 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 SYNGAP1 ## Count = 231 "{{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}}" "0000047048" "00020634" "00" "3794" "63" "3794" "63" "c.3794+63T>C" "r.(=)" "p.(=)" "" "0000047049" "00020634" "00" "3794" "74" "3794" "74" "c.3794+74G>T" "r.(=)" "p.(=)" "" "0000047050" "00020634" "00" "1914" "-32" "1914" "-32" "c.1914-32A>G" "r.(=)" "p.(=)" "" "0000047051" "00020634" "00" "762" "32" "762" "32" "c.762+32C>T" "r.(=)" "p.(=)" "" "0000047052" "00020634" "00" "3408" "180" "3408" "180" "c.3408+180A>T" "r.(=)" "p.(=)" "" "0000047053" "00020634" "00" "1531" "52" "1531" "52" "c.1531+52C>T" "r.(=)" "p.(=)" "" "0000047054" "00020634" "00" "2060" "0" "2060" "0" "c.2060G>A" "r.(=)" "p.(=)" "" "0000047055" "00020634" "00" "1713" "0" "1713" "0" "c.1713G>A" "r.(=)" "p.(=)" "" "0000047056" "00020634" "00" "1803" "0" "1803" "0" "c.1803G>A" "r.(=)" "p.(=)" "" "0000047057" "00020634" "00" "1851" "0" "1851" "0" "c.1851G>A" "r.(=)" "p.(=)" "" "0000047058" "00020634" "00" "1536" "0" "1536" "0" "c.1536A>G" "r.(=)" "p.(=)" "" "0000047059" "00020634" "00" "1152" "0" "1152" "0" "c.1152C>T" "r.(=)" "p.(=)" "" "0000047060" "00020634" "00" "198" "0" "198" "0" "c.198C>T" "r.(=)" "p.(=)" "" "0000047061" "00020634" "00" "84" "0" "84" "0" "c.84T>C" "r.(=)" "p.(=)" "" "0000047062" "00020634" "00" "1491" "0" "1491" "0" "c.1491T>C" "r.(=)" "p.(=)" "" "0000047063" "00020634" "00" "1158" "0" "1158" "0" "c.1158G>A" "r.(=)" "p.(=)" "" "0000047064" "00020634" "00" "2970" "0" "2970" "0" "c.2970C>T" "r.(=)" "p.(=)" "" "0000047065" "00020634" "00" "3344" "0" "3344" "0" "c.3344T>C" "r.(=)" "p.(=)" "" "0000047066" "00020634" "00" "3324" "0" "3324" "0" "c.3324C>T" "r.(=)" "p.(=)" "" "0000079328" "00020634" "00" "3277" "0" "3277" "0" "c.3277C>T" "r.(?)" "p.(Gln1093*)" "" "0000079342" "00020634" "00" "2782" "0" "2782" "0" "c.2782C>T" "r.(?)" "p.(Gln928*)" "" "0000079358" "00020634" "90" "1549" "0" "1554" "0" "c.1549_1554del" "r.(?)" "p.(Leu517_Tyr518del)" "" "0000079375" "00020634" "90" "431" "0" "434" "0" "c.431_434del" "r.(?)" "p.(Thr144Serfs*29)" "" "0000079408" "00020634" "90" "2774" "0" "2774" "0" "c.2774del" "r.(?)" "p.(Leu925Profs*152)" "" "0000079425" "00020634" "00" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170Gln)" "" "0000079629" "00020634" "00" "2764" "0" "2764" "0" "c.2764C>T" "r.(?)" "p.(Arg922*)" "" "0000251384" "00020634" "10" "1676" "199" "1676" "199" "c.1676+199del" "r.(=)" "p.(=)" "" "0000251385" "00020634" "10" "1914" "-32" "1914" "-32" "c.1914-32A>G" "r.(=)" "p.(=)" "" "0000251386" "00020634" "10" "2116" "-92" "2116" "-92" "c.2116-92A>G" "r.(=)" "p.(=)" "" "0000254981" "00020634" "30" "540" "0" "540" "0" "c.540A>T" "r.(?)" "p.(Ser180=)" "" "0000255579" "00020634" "90" "3713" "0" "3713" "0" "c.3713del" "r.(?)" "p.(Gln1238ArgfsTer11)" "" "0000274644" "00020634" "50" "-3580" "0" "-3579" "0" "c.-3580_-3579del" "r.(?)" "p.(=)" "" "0000311673" "00020634" "10" "1713" "0" "1713" "0" "c.1713G>A" "r.(?)" "p.(Ser571=)" "" "0000311674" "00020634" "90" "2234" "0" "2234" "0" "c.2234del" "r.(?)" "p.(Pro745LeufsTer15)" "" "0000311675" "00020634" "50" "2864" "0" "2864" "0" "c.2864C>T" "r.(?)" "p.(Ser955Phe)" "" "0000311676" "00020634" "90" "2899" "0" "2899" "0" "c.2899C>T" "r.(?)" "p.(Arg967Ter)" "" "0000311677" "00020634" "10" "296" "-160" "296" "-160" "c.296-160C>T" "r.(=)" "p.(=)" "" "0000311678" "00020634" "50" "3159" "0" "3159" "0" "c.3159C>T" "r.(?)" "p.(Ser1053=)" "" "0000311679" "00020634" "30" "3297" "0" "3297" "0" "c.3297T>C" "r.(?)" "p.(Tyr1099=)" "" "0000311680" "00020634" "50" "812" "0" "812" "0" "c.812C>T" "r.(?)" "p.(Ala271Val)" "" "0000311681" "00020634" "50" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Arg272Trp)" "" "0000311682" "00020634" "30" "84" "0" "84" "0" "c.84T>C" "r.(?)" "p.(Ser28=)" "" "0000313214" "00020634" "70" "3505" "0" "3505" "0" "c.3505G>T" "r.(?)" "p.(Glu1169Ter)" "" "0000314312" "00020634" "30" "1312" "0" "1312" "0" "c.1312G>A" "r.(?)" "p.(Ala438Thr)" "" "0000314313" "00020634" "10" "1531" "52" "1531" "52" "c.1531+52C>T" "r.(=)" "p.(=)" "" "0000314314" "00020634" "30" "1660" "0" "1660" "0" "c.1660G>A" "r.(?)" "p.(Val554Met)" "" "0000314315" "00020634" "90" "1735" "0" "1735" "0" "c.1735C>T" "r.(?)" "p.(Arg579Ter)" "" "0000314316" "00020634" "90" "1970" "0" "1970" "0" "c.1970G>A" "r.(?)" "p.(Trp657Ter)" "" "0000314317" "00020634" "30" "2658" "0" "2658" "0" "c.2658G>A" "r.(?)" "p.(Ala886=)" "" "0000314318" "00020634" "10" "296" "-282" "296" "-282" "c.296-282C>T" "r.(=)" "p.(=)" "" "0000314319" "00020634" "30" "296" "-8" "296" "-8" "c.296-8C>T" "r.(=)" "p.(=)" "" "0000314320" "00020634" "70" "3073" "0" "3073" "0" "c.3073C>T" "r.(?)" "p.(Gln1025Ter)" "" "0000314321" "00020634" "30" "3134" "0" "3134" "0" "c.3134C>G" "r.(?)" "p.(Ala1045Gly)" "" "0000314322" "00020634" "30" "3238" "0" "3238" "0" "c.3238G>A" "r.(?)" "p.(Ala1080Thr)" "" "0000314323" "00020634" "30" "3254" "0" "3254" "0" "c.3254G>A" "r.(?)" "p.(Arg1085Gln)" "" "0000314324" "00020634" "10" "3344" "0" "3344" "0" "c.3344T>C" "r.(?)" "p.(Ile1115Thr)" "" "0000314325" "00020634" "30" "3995" "0" "3995" "0" "c.3995C>T" "r.(?)" "p.(Thr1332Met)" "" "0000314326" "00020634" "70" "509" "0" "509" "0" "c.509G>C" "r.(?)" "p.(Arg170Pro)" "" "0000314327" "00020634" "30" "603" "0" "603" "0" "c.603T>G" "r.(?)" "p.(Asp201Glu)" "" "0000314328" "00020634" "10" "68" "-79" "68" "-79" "c.68-79T>G" "r.(=)" "p.(=)" "" "0000314329" "00020634" "10" "762" "119" "762" "119" "c.762+119T>A" "r.(=)" "p.(=)" "" "0000314330" "00020634" "10" "84" "0" "84" "0" "c.84T>C" "r.(?)" "p.(Ser28=)" "" "0000316144" "00020634" "30" "1491" "0" "1491" "0" "c.1491T>C" "r.(?)" "p.(Tyr497=)" "" "0000316145" "00020634" "90" "1515" "0" "1515" "0" "c.1515C>G" "r.(?)" "p.(Tyr505Ter)" "" "0000316146" "00020634" "50" "1802" "0" "1802" "0" "c.1802C>G" "r.(?)" "p.(Ala601Gly)" "" "0000316147" "00020634" "30" "2658" "0" "2658" "0" "c.2658G>A" "r.(?)" "p.(Ala886=)" "" "0000316148" "00020634" "90" "2899" "0" "2899" "0" "c.2899C>T" "r.(?)" "p.(Arg967Ter)" "" "0000316149" "00020634" "90" "3657" "0" "3657" "0" "c.3657T>G" "r.(?)" "p.(Tyr1219Ter)" "" "0000330960" "00020634" "50" "-3353" "0" "-3353" "0" "c.-3353G>A" "r.(?)" "p.(=)" "" "0000330961" "00020634" "30" "-2155" "0" "-2155" "0" "c.-2155A>G" "r.(?)" "p.(=)" "" "0000330962" "00020634" "50" "346" "0" "346" "0" "c.346T>C" "r.(?)" "p.(Tyr116His)" "" "0000330965" "00020634" "50" "1648" "0" "1648" "0" "c.1648G>C" "r.(?)" "p.(Ala550Pro)" "" "0000330967" "00020634" "50" "2724" "0" "2724" "0" "c.2724G>C" "r.(?)" "p.(Gln908His)" "" "0000330968" "00020634" "30" "2864" "0" "2864" "0" "c.2864C>T" "r.(?)" "p.(Ser955Phe)" "" "0000330969" "00020634" "50" "3233" "0" "3236" "0" "c.3233_3236del" "r.(?)" "p.(Val1078AlafsTer51)" "" "0000330972" "00020634" "30" "3963" "0" "3964" "0" "c.3963_3964del" "r.(?)" "p.(Ala1322ProfsTer40)" "" "0000330973" "00020634" "30" "7353" "0" "7353" "0" "c.*3321C>G" "r.(=)" "p.(=)" "" "0000330976" "00020634" "50" "8347" "0" "8347" "0" "c.*4315G>T" "r.(=)" "p.(=)" "" "0000337816" "00020634" "90" "1676" "2" "1676" "2" "c.1676+2T>C" "r.spl?" "p.?" "" "0000351128" "00020634" "90" "510" "-1" "510" "-1" "c.510-1G>A" "r.spl?" "p.?" "" "0000351129" "00020634" "90" "664" "-1" "664" "-1" "c.664-1G>C" "r.spl?" "p.?" "" "0000404699" "00020634" "70" "3200" "0" "3200" "0" "c.3200del" "r.(?)" "p.(Pro1067Hisfs*10)" "15" "0000407947" "00020634" "00" "510" "-1" "510" "-1" "c.510-1G>A" "r.spl?" "p.?" "" "0000435559" "00020634" "95" "321" "0" "324" "0" "c.321_324del" "r.(?)" "p.(Lys108Valfs*25)" "4" "0000435560" "00020634" "95" "412" "0" "412" "0" "c.412A>T" "r.(?)" "p.(Lys138*)" "5" "0000435561" "00020634" "95" "1735" "0" "1735" "0" "c.1735C>T" "r.(?)" "p.(Arg579*)" "11" "0000435562" "00020634" "95" "2294" "1" "2294" "1" "c.2294+1G>A" "r.2116_2294del" "p.Glu706Leufs*38" "13i" "0000435563" "00020634" "95" "2438" "0" "2438" "0" "c.2438del" "r.(?)" "p.(Leu813Argfs*23)" "15" "0000435564" "00020634" "95" "2677" "0" "2677" "0" "c.2677del" "r.(?)" "p.(Gln893Argfs*184)" "15" "0000435565" "00020634" "95" "510" "-1" "510" "-1" "c.510-1G>A" "r.spl" "p.?" "5i" "0000435566" "00020634" "95" "1253" "0" "1254" "0" "c.1253_1254del" "r.(?)" "p.(Lys418Argfs*54)" "8" "0000435567" "00020634" "95" "2630" "0" "2630" "0" "c.2630dup" "r.(?)" "p.(Thr878AspfsTer60)" "15" "0000435568" "00020634" "95" "283" "0" "283" "0" "c.283dup" "r.(?)" "p.(His95Profs*5)" "3" "0000435569" "00020634" "90" "1043" "0" "1044" "0" "c.1043_1044del" "r.(?)" "p.(Val348Alafs*70)" "8" "0000435570" "00020634" "95" "1084" "0" "1084" "0" "c.1084T>C" "r.(?)" "p.(Trp362Arg)" "8" "0000435571" "00020634" "95" "1685" "0" "1685" "0" "c.1685C>T" "r.(?)" "p.(Pro562Leu)" "11" "0000435572" "00020634" "95" "2184" "0" "2184" "0" "c.2184del" "r.(?)" "p.(Asn729Thrfs*31)" "13" "0000435573" "00020634" "95" "2212" "0" "2213" "0" "c.2212_2213del" "r.(?)" "p.(Ser738*)" "13" "0000454351" "00020634" "70" "1387" "-2" "1387" "-2" "c.1387-2del" "r.spl" "p.?" "" "0000528692" "00020634" "30" "216" "0" "216" "0" "c.216G>C" "r.(?)" "p.(Arg72=)" "" "0000528693" "00020634" "90" "333" "0" "333" "0" "c.333del" "r.(?)" "p.(Lys114SerfsTer20)" "" "0000528694" "00020634" "50" "388" "-3" "388" "-3" "c.388-3C>G" "r.spl?" "p.?" "" "0000528695" "00020634" "90" "403" "0" "403" "0" "c.403C>T" "r.(?)" "p.(Arg135Ter)" "" "0000528696" "00020634" "90" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Ter)" "" "0000528697" "00020634" "70" "509" "0" "509" "0" "c.509G>T" "r.(?)" "p.(Arg170Leu)" "" "0000528698" "00020634" "70" "564" "0" "583" "0" "c.564_583del" "r.(?)" "p.(Pro189IlefsTer7)" "" "0000528699" "00020634" "50" "692" "0" "692" "0" "c.692T>C" "r.(?)" "p.(Phe231Ser)" "" "0000528700" "00020634" "50" "1199" "0" "1199" "0" "c.1199T>G" "r.(?)" "p.(Val400Gly)" "" "0000528702" "00020634" "50" "1292" "0" "1292" "0" "c.1292T>C" "r.(?)" "p.(Leu431Pro)" "" "0000528703" "00020634" "70" "1685" "0" "1685" "0" "c.1685C>T" "r.(?)" "p.(Pro562Leu)" "" "0000528704" "00020634" "30" "1776" "0" "1776" "0" "c.1776A>G" "r.(?)" "p.(Ser592=)" "" "0000528705" "00020634" "90" "1859" "0" "1859" "0" "c.1859C>G" "r.(?)" "p.(Ser620Ter)" "" "0000528706" "00020634" "90" "1861" "0" "1861" "0" "c.1861C>T" "r.(?)" "p.(Arg621Ter)" "" "0000528707" "00020634" "30" "2016" "0" "2016" "0" "c.2016G>A" "r.(?)" "p.(Thr672=)" "" "0000528708" "00020634" "90" "2337" "-2" "2337" "-2" "c.2337-2A>C" "r.spl?" "p.?" "" "0000528709" "00020634" "90" "2755" "0" "2755" "0" "c.2755C>T" "r.(?)" "p.(Gln919Ter)" "" "0000528710" "00020634" "90" "2764" "0" "2764" "0" "c.2764C>T" "r.(?)" "p.(Arg922Ter)" "" "0000528711" "00020634" "50" "2837" "0" "2837" "0" "c.2837G>A" "r.(?)" "p.(Gly946Glu)" "" "0000528712" "00020634" "10" "2970" "0" "2970" "0" "c.2970C>T" "r.(?)" "p.(Ser990=)" "" "0000528713" "00020634" "30" "3134" "0" "3134" "0" "c.3134C>G" "r.(?)" "p.(Ala1045Gly)" "" "0000528716" "00020634" "30" "3582" "5" "3582" "5" "c.3582+5G>A" "r.spl?" "p.?" "" "0000528717" "00020634" "30" "3582" "7" "3582" "7" "c.3582+7T>C" "r.(=)" "p.(=)" "" "0000528718" "00020634" "50" "3718" "0" "3718" "0" "c.3718C>G" "r.(?)" "p.(Arg1240Gly)" "" "0000528719" "00020634" "50" "3877" "0" "3877" "0" "c.3877G>A" "r.(?)" "p.(Asp1293Asn)" "" "0000528720" "00020634" "30" "3962" "0" "3962" "0" "c.3962dup" "r.(?)" "p.(Ala1322SerfsTer41)" "" "0000528721" "00020634" "50" "3964" "0" "3964" "0" "c.3964G>A" "r.(?)" "p.(Ala1322Thr)" "" "0000528722" "00020634" "30" "3964" "0" "3964" "0" "c.3964G>C" "r.(?)" "p.(Ala1322Pro)" "" "0000528723" "00020634" "30" "3966" "0" "3968" "0" "c.3966_3968dup" "r.(?)" "p.(Pro1327dup)" "" "0000528724" "00020634" "30" "3969" "0" "3969" "0" "c.3969del" "r.(?)" "p.(Pro1324HisfsTer65)" "" "0000528725" "00020634" "30" "3983" "0" "3983" "0" "c.3983G>C" "r.(?)" "p.(Arg1328Pro)" "" "0000578294" "00020634" "70" "3676" "0" "3676" "0" "c.3676C>T" "r.(?)" "p.Gln1226*" "" "0000595598" "00020634" "90" "1744" "0" "1744" "0" "c.1744del" "r.(?)" "p.(Glu582Argfs*68)" "" "0000610322" "00020634" "30" "1581" "0" "1581" "0" "c.1581C>T" "r.(?)" "p.(Asp527=)" "" "0000610323" "00020634" "90" "2059" "0" "2059" "0" "c.2059C>T" "r.(?)" "p.(Arg687Ter)" "" "0000610324" "00020634" "90" "2764" "0" "2764" "0" "c.2764C>T" "r.(?)" "p.(Arg922Ter)" "" "0000610325" "00020634" "50" "3969" "0" "3972" "0" "c.3969_3972del" "r.(?)" "p.(Pro1325HisfsTer63)" "" "0000647273" "00020634" "50" "1753" "0" "1753" "0" "c.1753G>A" "r.(?)" "p.(Ala585Thr)" "" "0000651947" "00020634" "10" "3344" "0" "3344" "0" "c.3344T>C" "r.(?)" "p.(Ile1115Thr)" "" "0000655582" "00020634" "90" "3303" "0" "3303" "0" "c.3303dup" "r.(?)" "p.(Ala1102ArgfsTer51)" "" "0000660442" "00020634" "70" "1167" "0" "1167" "0" "c.1167del" "r.(?)" "p.(Gly391AlafsTer12)" "" "0000660579" "00020634" "90" "3583" "-6" "3583" "-6" "c.3583-6G>A" "r.spl" "p.(Val1195Alafs*27)" "" "0000667477" "00020634" "70" "3494" "0" "3494" "0" "c.3494C>T" "r.(?)" "p.(Ser1165Leu)" "" "0000667565" "00020634" "70" "3718" "0" "3718" "0" "c.3718C>T" "r.(?)" "p.(Arg1240*)" "" "0000667652" "00020634" "90" "800" "0" "800" "0" "c.800^801G>A" "r.(?)" "p.(Trp267*)" "" "0000667653" "00020634" "90" "2104" "0" "2104" "0" "c.2104C>T" "r.(?)" "p.(Gln702*)" "" "0000667658" "00020634" "70" "322" "0" "325" "0" "c.(322_325del)" "r.(?)" "p.(Lys108Valfs*25)" "" "0000667659" "00020634" "70" "389" "-2" "389" "-2" "c.389-2A>T" "r.spl" "p.?" "" "0000667660" "00020634" "70" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143*)" "" "0000667716" "00020634" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000667717" "00020634" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000667718" "00020634" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000667721" "00020634" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000667722" "00020634" "90" "0" "0" "0" "0" "c.-194_(1530_?)[0]" "r.0" "p.0" "" "0000673710" "00020634" "70" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170Gln)" "" "0000677759" "00020634" "30" "447" "0" "447" "0" "c.447A>G" "r.(?)" "p.(Lys149=)" "" "0000677760" "00020634" "30" "1812" "0" "1812" "0" "c.1812G>A" "r.(?)" "p.(Ser604=)" "" "0000677761" "00020634" "30" "3968" "0" "3969" "0" "c.3968_3969insCCCCCCCCCCC" "r.(?)" "p.(Pro1327HisfsTer66)" "" "0000704173" "00020634" "90" "2974" "0" "2974" "0" "c.2974del" "r.(?)" "p.(Val992Serfs*85)" "" "0000720896" "00020634" "70" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Arg31Ter)" "" "0000720897" "00020634" "70" "1210" "0" "1210" "0" "c.1210G>C" "r.(?)" "p.(Ala404Pro)" "" "0000720898" "00020634" "90" "1735" "0" "1735" "0" "c.1735C>T" "r.(?)" "p.(Arg579Ter)" "" "0000720899" "00020634" "90" "2059" "0" "2059" "0" "c.2059C>T" "r.(?)" "p.(Arg687Ter)" "" "0000720900" "00020634" "90" "2899" "0" "2899" "0" "c.2899C>T" "r.(?)" "p.(Arg967Ter)" "" "0000720901" "00020634" "90" "2936" "0" "2936" "0" "c.2936del" "r.(?)" "p.(Phe979SerfsTer98)" "" "0000720902" "00020634" "90" "3316" "0" "3316" "0" "c.3316C>T" "r.(?)" "p.(Gln1106Ter)" "" "0000720903" "00020634" "90" "3584" "0" "3584" "0" "c.3584dup" "r.(?)" "p.(Lys1196Glufs*25)" "" "0000720904" "00020634" "30" "3968" "0" "3969" "0" "c.3968_3969insCCCCCCC" "r.(?)" "p.(Pro1326Thrfs*39)" "" "0000763102" "00020634" "90" "535" "0" "535" "0" "c.535del" "r.(?)" "p.(Glu179Serfs*9)" "" "0000787065" "00020634" "70" "1591" "0" "1592" "0" "c.1591_1592del" "r.(?)" "p.(Cys531HisfsTer17)" "10" "0000787066" "00020634" "70" "2475" "0" "2478" "0" "c.2475_2478dup" "r.(?)" "p.(Ile827GlyfsTer24)" "15" "0000802560" "00020634" "70" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170Gln)" "" "0000802561" "00020634" "50" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Val306Ile)" "" "0000802562" "00020634" "50" "1090" "0" "1090" "0" "c.1090C>G" "r.(?)" "p.(Pro364Ala)" "" "0000802563" "00020634" "50" "1639" "0" "1639" "0" "c.1639T>C" "r.(?)" "p.(Cys547Arg)" "" "0000802564" "00020634" "90" "1717" "0" "1717" "0" "c.1717C>T" "r.(?)" "p.(Arg573Trp)" "" "0000802565" "00020634" "50" "1730" "0" "1730" "0" "c.1730C>T" "r.(?)" "p.(Ala577Val)" "" "0000802566" "00020634" "90" "1735" "0" "1735" "0" "c.1735C>T" "r.(?)" "p.(Arg579Ter)" "" "0000802567" "00020634" "50" "2218" "0" "2218" "0" "c.2218C>T" "r.(?)" "p.(Arg740Trp)" "" "0000802568" "00020634" "50" "2368" "0" "2368" "0" "c.2368A>G" "r.(?)" "p.(Thr790Ala)" "" "0000802569" "00020634" "90" "3794" "1" "3794" "1" "c.3794+1G>A" "r.spl?" "p.?" "" "0000802570" "00020634" "30" "3984" "0" "3984" "0" "c.3984G>C" "r.(?)" "p.(Arg1328=)" "" "0000810748" "00020634" "90" "1685" "0" "1685" "0" "c.1685C>T" "r.(?)" "p.(Pro562Leu)" "" "0000823734" "00020634" "50" "1914" "-1" "1914" "-1" "c.1914-1G>A" "r.spl?" "p.?" "" "0000844207" "00020634" "90" "2362" "0" "2366" "0" "c.2362_2366del" "r.(?)" "p.(Ser788AsnfsTer14)" "" "0000851203" "00020634" "50" "970" "0" "970" "0" "c.970C>T" "r.(?)" "p.(Arg324Trp)" "" "0000851204" "00020634" "70" "1717" "0" "1717" "0" "c.1717C>T" "r.(?)" "p.(Arg573Trp)" "" "0000851205" "00020634" "30" "2443" "0" "2443" "0" "c.2443C>T" "r.(?)" "p.(Arg815Cys)" "" "0000851206" "00020634" "50" "2837" "0" "2837" "0" "c.2837G>A" "r.(?)" "p.(Gly946Glu)" "" "0000851207" "00020634" "50" "3116" "0" "3116" "0" "c.3116T>C" "r.(?)" "p.(Ile1039Thr)" "" "0000860323" "00020634" "90" "333" "0" "333" "0" "c.333del" "r.(?)" "p.(Lys114SerfsTer20)" "" "0000860324" "00020634" "30" "708" "0" "708" "0" "c.708G>T" "r.(?)" "p.(Ala236=)" "" "0000860325" "00020634" "90" "1572" "0" "1572" "0" "c.1572C>A" "r.(?)" "p.(Cys524*)" "" "0000860326" "00020634" "50" "2443" "0" "2443" "0" "c.2443C>G" "r.(?)" "p.(Arg815Gly)" "" "0000860327" "00020634" "50" "3350" "0" "3350" "0" "c.3350G>T" "r.(?)" "p.(Gly1117Val)" "" "0000871140" "00020634" "90" "403" "0" "403" "0" "c.403C>T" "r.(?)" "p.(Arg135*)" "" "0000887215" "00020634" "70" "968" "0" "968" "0" "c.968T>C" "r.(?)" "p.(Leu323Pro)" "" "0000887217" "00020634" "50" "1867" "0" "1867" "0" "c.1867C>G" "r.(?)" "p.(Leu623Val)" "" "0000887218" "00020634" "90" "3233" "0" "3236" "0" "c.3233_3236del" "r.(?)" "p.(Val1078AlafsTer51)" "" "0000887219" "00020634" "90" "3718" "0" "3718" "0" "c.3718C>T" "r.(?)" "p.(Arg1240*)" "" "0000908547" "00020634" "50" "3922" "0" "3922" "0" "c.3922C>T" "r.(?)" "p.(Arg1308Cys)" "" "0000912483" "00020634" "70" "67" "2" "67" "2" "c.67+2T>C" "r.spl?" "p.?" "" "0000912484" "00020634" "90" "490" "0" "490" "0" "c.490C>T" "r.(?)" "p.(Arg164*)" "" "0000912485" "00020634" "70" "1718" "0" "1718" "0" "c.1718G>A" "r.(?)" "p.(Arg573Gln)" "" "0000912486" "00020634" "70" "1834" "0" "1834" "0" "c.1834C>T" "r.(?)" "p.(Gln612*)" "" "0000912487" "00020634" "50" "1993" "0" "1993" "0" "c.1993T>C" "r.(?)" "p.(Tyr665His)" "" "0000912488" "00020634" "30" "2369" "0" "2369" "0" "c.2369C>A" "r.(?)" "p.(Thr790Asn)" "" "0000912489" "00020634" "50" "2966" "0" "2966" "0" "c.2966C>G" "r.(?)" "p.(Ser989Cys)" "" "0000912490" "00020634" "50" "3977" "0" "3977" "0" "c.3977C>A" "r.(?)" "p.(Pro1326Gln)" "" "0000924491" "00020634" "90" "55" "0" "55" "0" "c.55del" "r.(?)" "p.(Ala19Profs*50)" "" "0000924492" "00020634" "70" "651" "0" "651" "0" "c.651del" "r.(?)" "p.(Glu217Aspfs*6)" "" "0000924493" "00020634" "50" "1771" "0" "1771" "0" "c.1771G>A" "r.(?)" "p.(Ala591Thr)" "" "0000929175" "00020634" "50" "163" "0" "163" "0" "c.163C>A" "r.(?)" "p.(Gln55Lys)" "" "0000935988" "00020634" "90" "599" "0" "599" "0" "c.599T>A" "r.(?)" "p.(Leu200*)" "" "0000936348" "00020634" "90" "3748" "0" "3748" "0" "c.3748C>T" "r.(?)" "p.(Gln1250*)" "" "0000939828" "00020634" "90" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Gln247Ter)" "7" "0000977206" "00020634" "50" "1193" "0" "1193" "0" "c.1193C>T" "r.(?)" "p.(Pro398Leu)" "" "0000977207" "00020634" "70" "1898" "0" "1898" "0" "c.1898T>C" "r.(?)" "p.(Leu633Pro)" "" "0000989199" "00020634" "70" "478" "0" "478" "0" "c.478del" "r.(?)" "p.(Leu160Cysfs*14)" "5" "0000995728" "00020634" "30" "2444" "0" "2444" "0" "c.2444G>A" "r.(?)" "p.(Arg815His)" "" "0000995729" "00020634" "30" "2669" "0" "2669" "0" "c.2669G>A" "r.(?)" "p.(Arg890His)" "" "0000995730" "00020634" "70" "2846" "0" "2849" "0" "c.2846_2849dup" "r.(?)" "p.(His951Trpfs*34)" "" "0000995731" "00020634" "30" "3056" "0" "3056" "0" "c.3056G>A" "r.(?)" "p.(Arg1019His)" "" "0000995732" "00020634" "30" "3343" "0" "3343" "0" "c.3343A>C" "r.(?)" "p.(Ile1115Leu)" "" "0000995733" "00020634" "30" "3983" "0" "3983" "0" "c.3983G>A" "r.(?)" "p.(Arg1328Gln)" "" "0001014213" "00020634" "30" "296" "-4" "296" "-4" "c.296-4C>T" "r.spl?" "p.?" "" "0001017577" "00020634" "70" "1030" "0" "1030" "0" "c.1030G>A" "r.(?)" "p.(Gly344Ser)" "8" "0001018829" "00020634" "70" "1630" "0" "1630" "0" "c.1630C>T" "r.?" "p.(Arg544*)" "10" "0001035730" "00020634" "30" "189" "371" "189" "371" "c.189+371C>A" "r.(=)" "p.(=)" "" "0001045252" "00020634" "50" "1258" "0" "1258" "0" "c.1258T>C" "r.(?)" "p.(Phe420Leu)" "8" "0001052326" "00020634" "50" "827" "0" "827" "0" "c.827C>T" "r.(?)" "p.(Pro276Leu)" "" "0001059233" "00020634" "90" "1829" "0" "1830" "0" "c.1829_1830dup" "r.(?)" "p.(Met611LeufsTer40)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 78 "{{screeningid}}" "{{variantid}}" "0000024269" "0000047048" "0000024269" "0000047049" "0000024269" "0000047050" "0000024269" "0000047051" "0000024269" "0000047052" "0000024269" "0000047053" "0000024269" "0000047054" "0000024269" "0000047055" "0000024269" "0000047056" "0000024269" "0000047057" "0000024269" "0000047058" "0000024269" "0000047059" "0000024269" "0000047060" "0000024269" "0000047061" "0000024269" "0000047062" "0000024269" "0000047063" "0000024269" "0000047064" "0000024269" "0000047065" "0000024269" "0000047066" "0000050348" "0000079328" "0000050362" "0000079342" "0000050378" "0000079358" "0000050395" "0000079375" "0000050428" "0000079408" "0000050445" "0000079425" "0000050649" "0000079629" "0000181063" "0000404699" "0000184009" "0000407947" "0000206149" "0000435559" "0000206150" "0000435560" "0000206151" "0000435561" "0000206152" "0000435562" "0000206153" "0000435563" "0000206154" "0000435564" "0000206155" "0000435565" "0000206156" "0000435566" "0000206157" "0000435567" "0000206158" "0000435568" "0000206159" "0000435569" "0000206160" "0000435570" "0000206161" "0000435571" "0000206162" "0000435572" "0000206163" "0000435573" "0000219482" "0000454351" "0000249507" "0000578294" "0000265016" "0000595598" "0000290587" "0000647273" "0000295258" "0000651947" "0000297779" "0000660442" "0000297879" "0000660579" "0000304079" "0000667477" "0000304167" "0000667565" "0000304224" "0000667652" "0000304225" "0000667653" "0000304230" "0000667658" "0000304231" "0000667659" "0000304232" "0000667660" "0000304288" "0000667716" "0000304289" "0000667717" "0000304290" "0000667718" "0000304290" "0000667721" "0000304291" "0000667722" "0000307145" "0000673710" "0000321344" "0000704173" "0000362728" "0000763102" "0000375714" "0000787065" "0000375715" "0000787066" "0000393117" "0000823734" "0000413632" "0000871140" "0000429125" "0000908547" "0000439859" "0000935988" "0000440190" "0000936348" "0000441886" "0000939828" "0000454394" "0000989199" "0000459529" "0001017577" "0000459884" "0001018829" "0000467450" "0001045252" "0000471111" "0001059233"