### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SHANK3) # 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}}" "SHANK3" "SH3 and multiple ankyrin repeat domains 3" "22" "q13.3" "unknown" "NG_008607.2" "UD_134408608546" "" "http://www.LOVD.nl/SHANK3" "" "1" "14294" "85358" "606230" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/SHANK3_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2012-05-01 00:00:00" "00006" "2016-09-02 16:45:04" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00023933" "SHANK3" "SH3 and multiple ankyrin repeat domains 3" "001" "NM_033517.1" "" "NP_277052.1" "" "" "" "1" "7059" "5159" "50674642" "50733212" "00001" "2014-03-13 18:23:42" "" "" "00025964" "SHANK3" "mRNA (removed from reference sequence)" "000" "NM_001372044.1" "" "NP_001358973.1" "" "" "RefSeq select" "-24" "7321" "5421" "1" "1" "00006" "2024-12-27 10:36:19" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00212" "SCZD" "schizophrenia (SCZD)" "AD" "181500" "" "" "" "00006" "2013-09-24 21:08:12" "00006" "2021-12-10 21:51:32" "00342" "LISX1;SCLH" "lissencephaly, X-linked, type 1 (subcortical laminar heterotopia (SCLH))" "XL" "300067" "" "" "" "00006" "2014-03-12 20:58:51" "00006" "2024-11-22 20:39:22" "00762" "PHMDS" "Phelan-McDermid syndrome (PHMDS)" "AD" "606232" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03490" "SCZD15" "schizophrenia, type 15 (SCZD-15)" "AD" "613950" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "SHANK3" "00139" "SHANK3" "00762" "SHANK3" "03490" ## Individuals ## Do not remove or alter this header ## ## Count = 49 "{{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}}" "00000029" "" "" "" "1" "" "00004" "{PMID:Almomani 2011:21102627}" "" "" "" "" "" "0" "" "" "" "" "00016317" "" "" "" "1" "" "00681" "{PMID:Della Mina et al 2014:Submitted}" "" "F" "" "" "" "0" "" "" "" "" "00024233" "" "" "" "1" "" "00006" "{PMID:Gilissen 2014:24896178}" "" "" "" "" "" "0" "" "" "" "" "00024268" "" "" "" "1" "" "00006" "{PMID:Hamdan 2011:21376300}" "" "M" "?" "Canada" ">15y" "0" "" "" "" "" "00050428" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050706" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00080066" "" "" "" "1" "" "01751" "s" "" "" "" "Germany" "" "0" "" "" "" "" "00080184" "" "" "" "1" "" "01751" "" "" "" "" "Germany" "" "0" "" "" "" "" "00080185" "" "" "" "1" "" "01751" "" "" "" "" "Germany" "" "0" "" "" "" "" "00080186" "" "" "" "1" "" "01751" "" "" "" "" "Germany" "" "0" "" "" "" "" "00080187" "" "" "" "1" "" "01751" "" "" "" "" "Germany" "" "0" "" "" "" "" "00080188" "" "" "" "1" "" "01751" "" "" "" "" "Germany" "" "0" "" "" "" "" "00080189" "" "" "" "1" "" "01751" "" "" "" "" "Germany" "" "0" "" "" "" "" "00080190" "" "" "" "1" "" "01751" "" "" "" "" "Germany" "" "0" "" "" "" "" "00080191" "" "" "" "1" "" "01751" "" "" "" "" "Germany" "" "0" "" "" "" "" "00080192" "" "" "" "1" "" "01751" "" "" "" "" "Germany" "" "0" "" "" "" "" "00164433" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00168111" "" "" "" "1" "" "02537" "{PMID:Du 2018:30555518}" "" "M" "" "China" "" "0" "" "" "" "ASD-685" "00225491" "" "" "" "1" "" "00006" "{PMID:Schanze 2018:30388402}, {DOI:Schanze 2018:10.1016/j.ajhg.2018.10.006}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "30388402-Pat3" "00269302" "" "" "" "1" "" "01428" "" "" "M" "" "" "" "0" "" "" "" "" "00276050" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00293172" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293173" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293174" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296767" "" "" "" "1" "" "00006" "{PMID:Redin 2014:25167861}" "analysis 106 patients; 2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "France" "" "0" "" "" "" "APN-122" "00296873" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00304914" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00320157" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00361925" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "177406" "00375645" "" "" "" "1" "" "00006" "{PMID:Srivastava 2014:25131622}" "" "" "" "United States" "" "0" "" "" "" "Pat25" "00375665" "" "" "" "1" "" "00006" "{PMID:Srivastava 2014:25131622}" "" "" "" "United States" "" "0" "" "" "" "Pat75" "00387839" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, first cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M8800188" "00396110" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "189765" "00401300" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "057P" "00408071" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "189765" "00409693" "" "" "" "1" "" "01164" "" "" "M" "?" "" "" "0" "" "" "" "196993" "00431830" "" "" "" "1" "" "01164" "" "" "F" "?" "Somalia" "" "0" "" "" "" "214132" "00432532" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "251387" "00434051" "" "" "" "1" "" "03544" "" "" "" "" "" "" "" "" "" "" "" "00434052" "" "" "" "1" "" "03544" "" "" "" "" "" "" "" "" "" "" "" "00434053" "" "" "" "1" "" "03544" "" "" "" "" "" "" "" "" "" "" "" "00440349" "" "" "" "1" "" "00006" "{PMID:Thevenon 2016:26757139}, {PMID:Nambot 2018:29095811}" "" "M" "" "France" "" "0" "" "" "" "Pat16;PED1320.1" "00440359" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED0051.1" "00451675" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00453030" "" "" "" "4" "" "03566" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "2-generation family, 4 affected (F, 3M), heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam7" "00453757" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV334" "00453768" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV546" "00459409" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00464370" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 49 "{{individualid}}" "{{diseaseid}}" "00016317" "00342" "00024233" "00139" "00024268" "00139" "00050428" "00198" "00050706" "00198" "00080066" "00212" "00080184" "00212" "00080185" "00212" "00080186" "00212" "00080187" "00212" "00080188" "00212" "00080189" "00212" "00080190" "00212" "00080191" "00212" "00080192" "00212" "00164433" "00198" "00168111" "00138" "00225491" "00139" "00269302" "00198" "00276050" "00198" "00293172" "00198" "00293173" "00198" "00293174" "00198" "00296767" "00139" "00296873" "00198" "00304914" "00198" "00320157" "00198" "00361925" "00762" "00375645" "00198" "00375665" "00198" "00387839" "00139" "00396110" "00762" "00401300" "00139" "00401300" "00762" "00408071" "00762" "00409693" "00762" "00431830" "00762" "00432532" "00762" "00434051" "00762" "00434052" "00762" "00434053" "00762" "00440349" "05611" "00440359" "00198" "00451675" "00138" "00453030" "05611" "00453757" "00152" "00453768" "00152" "00459409" "05611" "00464370" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00139, 00152, 00198, 00212, 00342, 00762, 03490, 05611 ## Count = 43 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000014922" "00342" "00016317" "00681" "Unknown" "" "diagnosis subcortical laminar heterotopia, X-linked, included" "" "" "" "" "" "" "" "" "" "" "" "0000020357" "00139" "00024233" "00006" "Unknown" "" "severe ID, signs of autism, aggressive behavior, 2 café au lait spots, increased pain threshold" "" "" "" "" "" "" "" "" "" "" "" "0000020387" "00139" "00024268" "00006" "Isolated (sporadic)" "" "mild intellectual disability, no epilepsy, CT-scan normal, neurological examination normal, no autism, severe language impairment" "" "" "" "" "" "" "" "" "" "" "" "0000037040" "00198" "00050428" "00006" "Isolated (sporadic)" "" "generalized hypotonia, global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000037318" "00198" "00050706" "00006" "Isolated (sporadic)" "" "global developmental delay, delayed speech and language development" "" "" "" "" "" "" "" "" "" "" "" "0000059747" "00212" "00080066" "01751" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059748" "00212" "00080184" "01751" "Unknown" "" "schizophrenia" "" "" "" "" "" "" "" "" "" "" "" "0000059749" "00212" "00080185" "01751" "Unknown" "" "schizophrenia" "" "" "" "" "" "" "" "" "" "" "" "0000059750" "00212" "00080186" "01751" "Unknown" "" "schizophrenia" "" "" "" "" "" "" "" "" "" "" "" "0000059751" "00212" "00080187" "01751" "Unknown" "" "schizophrenia" "" "" "" "" "" "" "" "" "" "" "" "0000059752" "00212" "00080188" "01751" "Unknown" "" "schizophrenia" "" "" "" "" "" "" "" "" "" "" "" "0000059753" "00212" "00080189" "01751" "Unknown" "" "schizophrenia" "" "" "" "" "" "" "" "" "" "" "" "0000059754" "00212" "00080190" "01751" "Unknown" "" "schizophrenia" "" "" "" "" "" "" "" "" "" "" "" "0000059755" "00212" "00080191" "01751" "Unknown" "" "schizophrenia" "" "" "" "" "" "" "" "" "" "" "" "0000059756" "00212" "00080192" "01751" "Unknown" "" "schizophrenia" "" "" "" "" "" "" "" "" "" "" "" "0000129492" "00198" "00164433" "01807" "Unknown" "" "HP:0001263 (Global developmental delay)" "" "" "" "" "" "" "" "" "" "" "" "0000133801" "00138" "00168111" "02537" "Isolated (sporadic)" "" "DD/ID" "" "" "" "" "" "" "" "" "" "autism" "" "0000170605" "00139" "00225491" "00006" "Isolated (sporadic)" "7y" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000207136" "00198" "00269302" "01428" "-" "" "HP:0001263 Global developmental delay\r\nHP:0001252 Muscular hypotonia\r\nHP:0000252 Microcephaly\r\nHP:0004322 Short stature\r\nHP:0001385 Hip dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000210606" "00198" "00276050" "01807" "Unknown" "" "Intellectual disability, severe (HP:0010864); Autistic behavior (HP:0000729)" "" "" "" "" "" "" "" "" "" "" "" "0000224166" "00139" "00296767" "00006" "Familial, autosomal dominant" "" "severe intellectual disability" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000224269" "00198" "00296873" "01164" "Unknown" "" "Global developmental delay (HP:0001263); Neurodevelopmental abnormality (HP:0012759)" "" "" "" "" "" "" "" "" "" "" "" "0000242203" "00198" "00320157" "01807" "Unknown" "" "Developmental regression (HP:0002376); Autistic behavior (HP:0000729); Delayed speech and language development (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "0000257322" "00762" "00361925" "01164" "Unknown" "16y" "(+) Obesity,(+) Cognitive impairment" "" "" "" "" "" "" "" "" "" "" "" "0000270858" "00198" "00375645" "00006" "Isolated (sporadic)" "" "developmental regression; autism spectrum disorder; macrocephaly; hypotonia, dystonia, ataxia; hyper-reflexia; stereotyped behavior; MRI brain normal" "" "6y" "" "" "" "" "" "" "" "" "" "0000270878" "00198" "00375665" "00006" "Isolated (sporadic)" "" "developmental regression; intellectual disability/developmental delay; autism spectrum disorder; decreased muscle bulk, hypotonia; hyper-reflexia; stereotyped behavior; MRI brain normal" "" "11y" "" "" "" "" "" "" "" "" "" "0000281407" "00139" "00387839" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly, autism" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000289272" "00762" "00396110" "01164" "Isolated (sporadic)" "" "Intellectual disability, Neurodevelopmental delay, Autism, Gait disturbance, Muscular hypotonia, Generalized hypotonia, Behavioral abnormality, Autistic behavior, Localized hirsutism, Short stature, Poor eye contact" "" "" "" "" "" "" "" "" "" "3y" "" "0000300199" "00762" "00408071" "01164" "Familial, autosomal dominant" "" "Intellectual disability, Neurodevelopmental delay, Autism, Gait disturbance, Muscular hypotonia, Generalized hypotonia, Behavioral abnormality, Autistic behavior, Localized hirsutism, Short stature, Poor eye contact" "" "" "" "" "" "" "" "" "" "" "" "0000301808" "00762" "00409693" "01164" "Unknown" "14y" "Autism, Autistic behavior, Constipation, Chronic constipation, Behavioral abnormality, Delayed speech and language development, Severe expressive language delay, Language impairment" "" "" "" "" "" "" "" "" "" "" "" "0000322399" "00762" "00431830" "01164" "Unknown" "06y" "Restlessness, Short attention span, Impulsivity, Delayed speech and language development, Tall stature, Intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "0000323091" "00762" "00432532" "01164" "Isolated (sporadic)" "16y" "Developmental regression, Intellectual disability, moderate, Abnormal muscle tone" "" "" "" "" "" "" "" "" "" "" "" "0000324430" "00762" "00434051" "03544" "Isolated (sporadic)" "" "moderate intellectual disability, autism, speech delay, motor delay, facial abnormalities" "" "" "" "" "" "" "" "" "" "" "" "0000324431" "00762" "00434052" "03544" "Isolated (sporadic)" "" "moderate intellectual disability, autism" "" "" "" "" "" "" "" "" "" "" "" "0000324432" "00762" "00434053" "03544" "Isolated (sporadic)" "" "moderate intellectual disability, autism, stereotyped behaviour" "" "" "" "" "" "" "" "" "" "" "" "0000330259" "05611" "00440349" "00006" "Isolated (sporadic)" "15y" "epilepsy; facial dysmorphism" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000330269" "00198" "00440359" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Phelan-McDermid syndrome (MIM #606232)" "" "" "0000340335" "00138" "00451675" "03544" "Isolated (sporadic)" "" "HP:0000717, HP:0001250, HP:0001249" "" "" "" "" "" "" "" "" "PHMDS" "autism" "" "0000341675" "05611" "00453030" "03566" "Familial, autosomal recessive" "" "severe intellectual disability, severely delayed developmental milestones, hypotonia, severely impaired speech, aggressive behavior, mild facial dysmorphism" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000342414" "00152" "00453757" "00006" "Unknown" "" "root aneurysm" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342425" "00152" "00453768" "00006" "Unknown" "" "coarctation, ventricular septal defect" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000347485" "05611" "00459409" "03544" "Isolated (sporadic)" "" "HP:0001249, HP:0002474, HP:0000750, HP:0001507" "" "" "" "" "" "" "" "" "PHMDS" "complex neurodevelopmental disorder" "" "0000350392" "00139" "00464370" "03544" "Isolated (sporadic)" "" "HP:0000717, HP:0000729, HP:0010864" "" "" "" "" "" "" "" "" "PHMDS" "complex neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 49 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000029" "00000029" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000016246" "00016317" "1" "00681" "00681" "2014-03-12 11:26:06" "00006" "2014-03-14 15:59:34" "SEQ-NG-I" "DNA" "" "" "0000024227" "00024233" "1" "00006" "00006" "2014-11-08 13:19:45" "00006" "2014-11-08 14:33:50" "SEQ;SEQ-NG" "DNA" "" "" "0000024260" "00024268" "1" "00006" "00006" "2014-11-14 18:59:33" "" "" "SEQ" "DNA" "" "" "0000050373" "00050428" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050651" "00050706" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000080145" "00080066" "1" "01751" "01751" "2016-09-01 15:48:38" "" "" "SEQ" "DNA" "" "" "0000080277" "00080184" "1" "01751" "01751" "2016-09-01 16:44:32" "" "" "SEQ" "DNA" "" "" "0000080278" "00080185" "1" "01751" "01751" "2016-09-01 16:48:13" "" "" "SEQ" "DNA" "" "" "0000080279" "00080186" "1" "01751" "01751" "2016-09-01 16:51:04" "" "" "SEQ" "DNA" "" "" "0000080280" "00080187" "1" "01751" "01751" "2016-09-01 16:53:30" "" "" "SEQ" "DNA" "" "" "0000080281" "00080188" "1" "01751" "01751" "2016-09-01 16:55:19" "" "" "SEQ" "DNA" "" "" "0000080282" "00080189" "1" "01751" "01751" "2016-09-01 16:57:18" "" "" "SEQ" "DNA" "" "" "0000080283" "00080190" "1" "01751" "01751" "2016-09-01 16:59:21" "" "" "SEQ" "DNA" "" "" "0000080284" "00080191" "1" "01751" "01751" "2016-09-01 17:00:41" "" "" "SEQ" "DNA" "" "" "0000080285" "00080192" "1" "01751" "01751" "2016-09-01 17:02:32" "" "" "SEQ" "DNA" "" "" "0000165300" "00164433" "1" "01807" "01807" "2018-05-17 16:07:15" "" "" "SEQ" "DNA" "" "" "0000168983" "00168111" "1" "02537" "02537" "2018-07-20 08:07:56" "02537" "2018-07-20 09:12:32" "SEQ-NG" "DNA" "blood" "WES" "0000226570" "00225491" "1" "00006" "00006" "2019-02-17 13:07:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000270433" "00269302" "1" "01428" "01428" "2019-11-12 12:32:37" "" "" "SEQ-NG" "DNA" "Blood" "WES" "0000277197" "00276050" "1" "01807" "01807" "2020-01-24 11:02:59" "" "" "SEQ" "DNA" "" "" "0000294340" "00293172" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294341" "00293173" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294342" "00293174" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297877" "00296767" "1" "00006" "00006" "2020-04-13 12:27:32" "" "" "SEQ;SEQ-NG" "DNA" "" "222-gene ID panel" "0000297982" "00296873" "1" "01164" "01164" "2020-04-14 14:34:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000306043" "00304914" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000321342" "00320157" "1" "01807" "01807" "2020-11-23 17:38:20" "" "" "SEQ" "DNA" "" "" "0000363153" "00361925" "1" "01164" "01164" "2021-04-12 15:36:16" "" "" "SEQ-NG-I" "DNA" "" "" "0000376842" "00375645" "1" "00006" "00006" "2021-06-14 20:30:20" "" "" "SEQ-NG" "DNA" "" "WES" "0000376862" "00375665" "1" "00006" "00006" "2021-06-14 20:30:20" "" "" "SEQ-NG" "DNA" "" "WES" "0000389070" "00387839" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000397349" "00396110" "1" "01164" "01164" "2021-12-13 14:46:42" "" "" "SEQ-NG-I" "DNA" "" "" "0000402544" "00401300" "1" "02494" "02494" "2022-01-31 10:41:12" "" "" "SEQ-NG" "DNA" "" "WES" "0000409326" "00408071" "1" "01164" "01164" "2022-04-13 14:02:50" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" "0000410957" "00409693" "1" "01164" "01164" "2022-05-11 11:11:06" "" "" "SEQ-NG-I" "DNA" "" "" "0000433269" "00431830" "1" "01164" "01164" "2023-02-16 14:24:43" "" "" "SEQ-NG-I" "DNA" "" "" "0000433974" "00432532" "1" "01164" "01164" "2023-02-24 10:26:34" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000435514" "00434051" "1" "03544" "03544" "2023-03-18 07:06:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000435515" "00434052" "1" "03544" "03544" "2023-03-18 13:07:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000435516" "00434053" "1" "03544" "03544" "2023-03-18 13:12:05" "" "" "SEQ-NG-I" "DNA" "" "" "0000441834" "00440349" "1" "00006" "00006" "2023-11-02 11:20:13" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000441844" "00440359" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000453279" "00451675" "1" "03544" "03544" "2024-06-28 08:01:56" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000454641" "00453030" "1" "03566" "00006" "2024-08-15 18:41:07" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" "0000455369" "00453757" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455380" "00453768" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461032" "00459409" "1" "03544" "03544" "2024-12-27 07:21:30" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000466005" "00464370" "1" "03544" "03544" "2025-03-08 10:41:31" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 57 "{{screeningid}}" "{{geneid}}" "0000000029" "ALG9" "0000000029" "ASPM" "0000000029" "B3GLCT" "0000000029" "BBS1" "0000000029" "CBS" "0000000029" "CC2D1A" "0000000029" "CDK5RAP2" "0000000029" "DLG3" "0000000029" "DNMT3B" "0000000029" "DPM1" "0000000029" "DPP3" "0000000029" "GLI3" "0000000029" "JAG1" "0000000029" "KRAS" "0000000029" "MECP2" "0000000029" "MPDU1" "0000000029" "NLGN4X" "0000000029" "NSD1" "0000000029" "PHF8" "0000000029" "PMM2" "0000000029" "RAI1" "0000000029" "REST" "0000000029" "SATB2" "0000000029" "SCN8A" "0000000029" "SHANK3" "0000000029" "SLC35C1" "0000000029" "TCF4" "0000000029" "TSC1" "0000000029" "UPF3B" "0000000029" "ZEB2" "0000000029" "ZNF41" "0000016246" "DCX" "0000016246" "SHANK3" "0000024227" "ACR" "0000024227" "SHANK3" "0000024260" "SHANK3" "0000050651" "SHANK3" "0000080145" "SHANK3" "0000080277" "SHANK3" "0000080278" "SHANK3" "0000080279" "SHANK3" "0000080280" "SHANK3" "0000080281" "SHANK3" "0000080282" "SHANK3" "0000080283" "SHANK3" "0000080284" "SHANK3" "0000080285" "SHANK3" "0000168983" "SHANK3" "0000226570" "NFIB" "0000297877" "SHANK3" "0000363153" "SHANK3" "0000389070" "SHANK3" "0000397349" "SHANK3" "0000409326" "SHANK3" "0000410957" "SHANK3" "0000433269" "SHANK3" "0000433974" "SHANK3" ## 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 = 314 "{{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}}" "0000000905" "1" "50" "22" "51133518" "51133518" "subst" "0.472637" "00002" "SHANK3_000001" "g.51133518G>A" "" "{PMID:Almomani 2011:21102627}" "" "" "" "Germline" "" "rs13055562" "0" "" "" "g.50695090G>A" "" "VUS" "" "0000035983" "11" "55" "22" "51121780" "51121780" "subst" "0.00010677" "00681" "SHANK3_000002" "g.51121780C>T" "" "Della Mina et al 2014, submitted" "" "" "" "Germline" "?" "" "0" "" "" "g.50683352C>T" "" "VUS" "" "0000046778" "0" "70" "22" "51121491" "51187709" "del" "0" "00006" "SHANK3_000003" "g.51121491_51187709del" "" "{PMID:Gilissen 2014:24896178}" "" "51121756_51187704del" "variant corrected acc. SupFig3; SHANK3 variant associated with ID phenotype" "De novo" "" "" "0" "" "" "g.50683063_50749281del" "" "likely pathogenic" "" "0000046853" "0" "90" "22" "51117446" "51117446" "subst" "0" "00006" "SHANK3_000004" "g.51117446G>A" "" "{PMID:Hamdan 2011:21376300}" "" "" "effect on splicing analysed using exon trap vector" "De novo" "yes" "" "0" "" "" "g.50679018G>A" "" "pathogenic" "" "0000079353" "0" "90" "22" "47182944" "51666786" "del" "0" "00006" "ALG12_000022" "g.47182944_51666786del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, hemizygous in 0.56 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000079631" "0" "90" "22" "51142082" "51183740" "del" "0" "00006" "ACR_000001" "g.51142082_51183740del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.50703654_50745312del" "" "pathogenic" "" "0000129057" "0" "30" "22" "51117232" "51117232" "subst" "0" "01751" "SHANK3_000005" "g.51117232G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50678804G>A" "" "likely benign" "" "0000129235" "0" "50" "22" "51159330" "51159330" "subst" "0" "01751" "SHANK3_000006" "g.51159330G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50720902G>T" "" "VUS" "" "0000129236" "0" "50" "22" "51159365" "51159365" "subst" "0" "01751" "SHANK3_000007" "g.51159365C>T" "" "" "" "" "Variant Error [EREF/0]: 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." "Somatic" "" "" "0" "" "" "g.50720937C>T" "" "VUS" "" "0000129237" "0" "50" "22" "51159477" "51159477" "subst" "0" "01751" "SHANK3_000008" "g.51159477C>G" "" "" "" "" "" "Somatic" "" "" "0" "" "" "g.50721049C>G" "" "VUS" "" "0000129238" "0" "50" "22" "51159866" "51159866" "subst" "0" "01751" "SHANK3_000009" "g.51159866G>A" "" "" "" "" "Variant Error [EREF/0]: 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." "Somatic" "" "" "0" "" "" "g.50721438G>A" "" "VUS" "" "0000129239" "0" "50" "22" "51160062" "51160062" "subst" "0" "01751" "SHANK3_000010" "g.51160062G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50721634G>A" "" "VUS" "" "0000129240" "0" "50" "22" "51160683" "51160683" "subst" "0" "01751" "SHANK3_000011" "g.51160683G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50722255G>T" "" "VUS" "" "0000129241" "0" "50" "22" "51169535" "51169535" "subst" "0" "01751" "SHANK3_000012" "g.51169535G>A" "" "" "" "" "Variant Error [EREF/0]: 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." "Somatic" "" "" "0" "" "" "g.50731107G>A" "" "VUS" "" "0000129242" "0" "50" "22" "51169541" "51169541" "subst" "0" "01751" "SHANK3_000013" "g.51169541C>A" "" "" "" "" "Variant Error [EREF/0]: 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." "Somatic" "" "" "0" "" "" "g.50731113C>A" "" "VUS" "" "0000129243" "0" "50" "22" "51169767" "51169767" "subst" "5.74832E-5" "01751" "SHANK3_000014" "g.51169767C>T" "" "" "" "" "" "Somatic" "" "" "0" "" "" "g.50731339C>T" "" "VUS" "" "0000252655" "0" "50" "22" "51159012" "51159012" "subst" "0" "02326" "SHANK3_000066" "g.51159012A>C" "" "" "" "SHANK3(NM_001372044.1):c.2943A>C (p.P981=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50720584A>C" "" "VUS" "" "0000255072" "0" "30" "22" "51117826" "51117826" "subst" "0" "01943" "SHANK3_000025" "g.51117826A>G" "" "" "" "SHANK3(NM_033517.1):c.855A>G (p.T285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50679398A>G" "" "likely benign" "" "0000255080" "0" "30" "22" "51121836" "51121836" "subst" "2.46881E-5" "01943" "SHANK3_000034" "g.51121836A>C" "" "" "" "SHANK3(NM_033517.1):c.954A>C (p.T318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50683408A>C" "" "likely benign" "" "0000256295" "0" "50" "22" "51117031" "51117031" "subst" "0" "01943" "SHANK3_000015" "g.51117031A>G" "" "" "" "SHANK3(NM_033517.1):c.358A>G (p.M120V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50678603A>G" "" "VUS" "" "0000298193" "0" "10" "22" "51137249" "51137249" "subst" "0.801738" "02325" "SHANK3_000048" "g.51137249T>C" "" "" "" "SHANK3(NM_001372044.2):c.1837+18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50698821T>C" "" "benign" "" "0000298195" "0" "10" "22" "51117137" "51117137" "subst" "0.35507" "02325" "SHANK3_000016" "g.51117137G>A" "" "" "" "SHANK3(NM_001372044.2):c.673+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50678709G>A" "" "benign" "" "0000298196" "0" "50" "22" "51169506" "51169506" "del" "0" "02325" "SHANK3_000099" "g.51169506del" "" "" "" "SHANK3(NM_001372044.2):c.5187delC (p.G1730Afs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50731078del" "" "VUS" "" "0000298197" "0" "10" "22" "51117580" "51117580" "subst" "0.427556" "02325" "SHANK3_000019" "g.51117580T>C" "" "" "" "SHANK3(NM_001372044.2):c.959T>C (p.I320T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50679152T>C" "" "benign" "" "0000299471" "0" "90" "22" "51160025" "51160037" "del" "0" "02329" "SHANK3_000084" "g.51160025_51160037del" "" "" "" "SHANK3(NM_001372044.2):c.3989_4001delGGGCCCAGCCCCC (p.R1330Lfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50721597_50721609del" "" "pathogenic" "" "0000302106" "0" "30" "22" "51159667" "51159667" "subst" "3.48778E-5" "02326" "SHANK3_000079" "g.51159667G>A" "" "" "" "SHANK3(NM_001372044.1):c.3598G>A (p.A1200T), SHANK3(NM_001372044.2):c.3631G>A (p.(Ala1211Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50721239G>A" "" "likely benign" "" "0000302107" "0" "90" "22" "51160156" "51160156" "subst" "0" "02326" "SHANK3_000088" "g.51160156G>T" "" "" "" "SHANK3(NM_001372044.1):c.4087G>T (p.A1363S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50721728G>T" "" "pathogenic" "" "0000308054" "0" "30" "22" "51133246" "51133246" "subst" "0.00140197" "01943" "SHANK3_000036" "g.51133246G>A" "" "" "" "SHANK3(NM_001372044.2):c.1299G>A (p.(Leu433Leu)), SHANK3(NM_033517.1):c.1074G>A (p.L358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50694818G>A" "" "likely benign" "" "0000308055" "0" "10" "22" "51144513" "51144513" "subst" "0.00595199" "01943" "SHANK3_000053" "g.51144513C>G" "" "" "" "SHANK3(NM_001372044.2):c.2268C>G (p.P756=), SHANK3(NM_033517.1):c.2043C>G (p.P681=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50706085C>G" "" "benign" "" "0000308056" "0" "90" "22" "51153476" "51153476" "subst" "0" "01943" "SHANK3_000059" "g.51153476G>A" "" "" "" "SHANK3(NM_001372044.2):c.2490+1G>A, SHANK3(NM_033517.1):c.2228+1G>A (p.?), SHANK3(NM_033517.1):c.2265+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50715048G>A" "" "pathogenic" "" "0000308057" "0" "30" "22" "51158979" "51158979" "subst" "0" "01943" "SHANK3_000065" "g.51158979T>A" "" "" "" "SHANK3(NM_033517.1):c.2718T>A (p.P906=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50720551T>A" "" "likely benign" "" "0000308058" "0" "30" "22" "51159169" "51159169" "subst" "0.000554197" "01943" "SHANK3_000068" "g.51159169G>T" "" "" "" "SHANK3(NM_001372044.2):c.3133G>T (p.(Trp957Cys)), SHANK3(NM_033517.1):c.2908G>T (p.A970S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50720741G>T" "" "likely benign" "" "0000308059" "0" "90" "22" "51159381" "51159381" "del" "0" "01943" "SHANK3_000074" "g.51159381del" "" "" "" "SHANK3(NM_033517.1):c.3120delC (p.G1041Afs*37)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50720953del" "" "pathogenic" "" "0000308060" "0" "30" "22" "51159474" "51159474" "subst" "0" "01943" "SHANK3_000075" "g.51159474C>A" "" "" "" "SHANK3(NM_033517.1):c.3213C>A (p.P1071=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50721046C>A" "" "likely benign" "" "0000308061" "0" "70" "22" "51160068" "51160072" "del" "0" "01943" "SHANK3_000085" "g.51160068_51160072del" "" "" "" "SHANK3(NM_033517.1):c.3807_3811delCCAGG (p.G1271Lfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50721640_50721644del" "" "likely pathogenic" "" "0000308062" "0" "30" "22" "51160295" "51160295" "subst" "0.000415042" "01943" "SHANK3_000090" "g.51160295C>T" "" "" "" "SHANK3(NM_001372044.2):c.4259C>T (p.P1420L), SHANK3(NM_033517.1):c.3997C>T (p.(His1333Tyr)), SHANK3(NM_033517.1):c.4034C>T (p.P1345L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50721867C>T" "" "likely benign" "" "0000308063" "0" "30" "22" "51117766" "51117766" "subst" "0" "01943" "SHANK3_000020" "g.51117766T>C" "" "" "" "SHANK3(NM_033517.1):c.795T>C (p.H265=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50679338T>C" "" "likely benign" "" "0000308064" "0" "30" "22" "51117787" "51117787" "subst" "0" "01943" "SHANK3_000021" "g.51117787T>C" "" "" "" "SHANK3(NM_033517.1):c.816T>C (p.Y272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50679359T>C" "" "likely benign" "" "0000308065" "0" "30" "22" "51117800" "51117800" "subst" "0" "01943" "SHANK3_000022" "g.51117800G>A" "" "" "" "SHANK3(NM_033517.1):c.829G>A (p.G277R, p.(Gly277Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50679372G>A" "" "likely benign" "" "0000308066" "0" "30" "22" "51117802" "51117802" "subst" "0" "01943" "SHANK3_000023" "g.51117802G>T" "" "" "" "SHANK3(NM_033517.1):c.831G>T (p.G277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50679374G>T" "" "likely benign" "" "0000308067" "0" "30" "22" "51117811" "51117811" "subst" "1.63447E-5" "01943" "SHANK3_000024" "g.51117811C>T" "" "" "" "SHANK3(NM_033517.1):c.840C>T (p.N280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50679383C>T" "" "likely benign" "" "0000308068" "0" "30" "22" "51117830" "51117830" "subst" "4.0934E-6" "01943" "SHANK3_000026" "g.51117830C>T" "" "" "" "SHANK3(NM_033517.1):c.859C>T (p.L287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50679402C>T" "" "likely benign" "" "0000308069" "0" "30" "22" "51117841" "51117841" "subst" "0" "01943" "SHANK3_000027" "g.51117841T>C" "" "" "" "SHANK3(NM_033517.1):c.870T>C (p.C290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50679413T>C" "" "likely benign" "" "0000329141" "0" "30" "22" "51117458" "51117458" "subst" "0.000137535" "01804" "SHANK3_000018" "g.51117458C>A" "" "" "" "SHANK3(NM_033517.1):c.612C>A (p.(Asp204Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50679030C>A" "" "likely benign" "" "0000329142" "0" "30" "22" "51117800" "51117800" "subst" "0" "01804" "SHANK3_000022" "g.51117800G>A" "" "" "" "SHANK3(NM_033517.1):c.829G>A (p.G277R, p.(Gly277Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50679372G>A" "" "likely benign" "" "0000329144" "0" "50" "22" "51117859" "51117860" "ins" "0" "01804" "SHANK3_000028" "g.51117859_51117860insAGTGCTGAG" "" "" "" "SHANK3(NM_033517.1):c.885+2_885+3insGAGTGCTGA (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50679431_50679432insAGTGCTGAG" "" "VUS" "" "0000329145" "0" "50" "22" "51117861" "51117862" "ins" "0" "01804" "SHANK3_000029" "g.51117861_51117862insCATTTAAAGGAAATAATGTAT" "" "" "" "SHANK3(NM_033517.1):c.885+5_885+6insCATTTAAAGGAAATAATGTAT (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50679433_50679434insCATTTAAAGGAAATAATGTAT" "" "VUS" "" "0000329146" "0" "50" "22" "51117861" "51117862" "ins" "0" "01804" "SHANK3_000030" "g.51117861_51117862insCATTTAAAGGAAATAATGTATAC" "" "" "" "SHANK3(NM_033517.1):c.885+5_885+6insCATTTAAAGGAAATAATGTATAC (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50679433_50679434insCATTTAAAGGAAATAATGTATAC" "" "VUS" "" "0000329149" "0" "30" "22" "51117861" "51117862" "ins" "0" "01804" "SHANK3_000032" "g.51117861_51117862insCATTTAAAGGAAATAATGTATACAGTGGTCCATTTCCAAA" "" "" "" "SHANK3(NM_033517.1):c.885+5_885+6insCATTTAAAGGAAATAATGTATACAGTGGTCCATTTCCAAA (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50679433_50679434insCATTTAAAGGAAATAATGTATACAGTGGTCCATTTCCAAA" "" "likely benign" "" "0000329150" "0" "50" "22" "51121781" "51121781" "subst" "8.2085E-6" "01804" "SHANK3_000033" "g.51121781G>A" "" "" "" "SHANK3(NM_033517.1):c.899G>A (p.(Arg300His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50683353G>A" "" "VUS" "" "0000329151" "0" "50" "22" "51123059" "51123059" "subst" "8.14989E-6" "01804" "SHANK3_000035" "g.51123059C>T" "" "" "" "SHANK3(NM_001372044.1):c.1237C>T (p.H413Y), SHANK3(NM_033517.1):c.1010C>T (p.(Thr337Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50684631C>T" "" "VUS" "" "0000329152" "0" "50" "22" "51133409" "51133409" "subst" "0" "01804" "SHANK3_000037" "g.51133409C>T" "" "" "" "SHANK3(NM_033517.1):c.1237C>T (p.(Arg413Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50694981C>T" "" "VUS" "" "0000329153" "0" "30" "22" "51135976" "51135979" "del" "0" "01804" "SHANK3_000038" "g.51135976_51135979del" "" "" "" "SHANK3(NM_033517.1):c.1303-9_1303-6del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50697548_50697551del" "" "likely benign" "" "0000329154" "0" "50" "22" "51135977" "51135980" "del" "0" "01804" "SHANK3_000039" "g.51135977_51135980del" "" "" "" "SHANK3(NM_033517.1):c.1303-8_1303-5del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50697549_50697552del" "" "VUS" "" "0000329155" "0" "30" "22" "51135980" "51135980" "subst" "0" "01804" "SHANK3_000040" "g.51135980T>C" "" "" "" "SHANK3(NM_033517.1):c.1303-5T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50697552T>C" "" "likely benign" "" "0000329156" "0" "50" "22" "51135983" "51135983" "subst" "0" "01804" "SHANK3_000041" "g.51135983A>G" "" "" "" "SHANK3(NM_033517.1):c.1303-2A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50697555A>G" "" "VUS" "" "0000329157" "0" "50" "22" "51135984" "51135984" "subst" "0" "01804" "SHANK3_000042" "g.51135984G>C" "" "" "" "SHANK3(NM_033517.1):c.1303-1G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50697556G>C" "" "VUS" "" "0000329158" "0" "30" "22" "51135984" "51135985" "ins" "0" "01804" "SHANK3_000043" "g.51135984_51135985insGCCCCGGCCCCGCGCCCGGC" "" "" "" "SHANK3(NM_033517.1):c.1303-1_1303insGCCCCGGCCCCGCGCCCGGC (p.(Pro448Alafs*39))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50697556_50697557insGCCCCGGCCCCGCGCCCGGC" "" "likely benign" "" "0000329160" "0" "30" "22" "51135990" "51135991" "del" "0" "01804" "SHANK3_000044" "g.51135990_51135991del" "" "" "" "SHANK3(NM_033517.1):c.1308_1309del (p.(Ser437ProfsTer1283))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50697562_50697563del" "" "likely benign" "" "0000329162" "0" "50" "22" "51136164" "51136173" "del" "0" "01804" "SHANK3_000045" "g.51136164_51136173del" "" "" "" "SHANK3(NM_001372044.2):c.1684+21_1684+30del (p.?), SHANK3(NM_001372044.2):c.1723+5_1723+14delGGGGCGCGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50697736_50697745del" "" "VUS" "" "0000329165" "0" "50" "22" "51137169" "51137169" "subst" "0" "01804" "SHANK3_000047" "g.51137169C>T" "" "" "" "SHANK3(NM_033517.1):c.1513C>T (p.(Arg505Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50698741C>T" "" "VUS" "" "0000329166" "0" "50" "22" "51143191" "51143191" "subst" "6.91073E-5" "01804" "SHANK3_000049" "g.51143191G>A" "" "" "" "SHANK3(NM_033517.1):c.1760G>A (p.(Arg587His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50704763G>A" "" "VUS" "" "0000329167" "0" "30" "22" "51143197" "51143197" "subst" "0.000911511" "01804" "SHANK3_000050" "g.51143197G>A" "" "" "" "SHANK3(NM_033517.1):c.1766G>A (p.(Arg589His)), SHANK3(NM_033517.1):c.1803G>A (p.T601=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50704769G>A" "" "likely benign" "" "0000329168" "0" "30" "22" "51143454" "51143454" "subst" "0.000381834" "01804" "SHANK3_000051" "g.51143454T>C" "" "" "" "SHANK3(NM_033517.1):c.1922T>C (p.(Val641Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50705026T>C" "" "likely benign" "" "0000329172" "0" "50" "22" "51153377" "51153377" "subst" "0" "01804" "SHANK3_000055" "g.51153377G>C" "" "" "" "SHANK3(NM_033517.1):c.2130G>C (p.(Gln710His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50714949G>C" "" "VUS" "" "0000329173" "0" "50" "22" "51153385" "51153385" "subst" "0.000191328" "01804" "SHANK3_000056" "g.51153385G>A" "" "" "" "SHANK3(NM_033517.1):c.2138G>A (p.(Arg713His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50714957G>A" "" "VUS" "" "0000329174" "0" "50" "22" "51153421" "51153421" "subst" "0.00109551" "01804" "SHANK3_000057" "g.51153421C>T" "" "" "" "SHANK3(NM_033517.1):c.2174C>T (p.(Pro725Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50714993C>T" "" "VUS" "" "0000329175" "0" "50" "22" "51153450" "51153450" "subst" "6.5799E-6" "01804" "SHANK3_000058" "g.51153450G>A" "" "" "" "SHANK3(NM_033517.1):c.2203G>A (p.(Arg747Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50715022G>A" "" "VUS" "" "0000329176" "0" "90" "22" "51153476" "51153476" "subst" "0" "01804" "SHANK3_000059" "g.51153476G>A" "" "" "" "SHANK3(NM_001372044.2):c.2490+1G>A, SHANK3(NM_033517.1):c.2228+1G>A (p.?), SHANK3(NM_033517.1):c.2265+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50715048G>A" "" "pathogenic" "" "0000329177" "0" "30" "22" "51154141" "51154141" "subst" "0.0063076" "01804" "SHANK3_000060" "g.51154141G>A" "" "" "" "SHANK3(NM_001372044.2):c.2535G>A (p.P845=), SHANK3(NM_033517.1):c.2273G>A (p.(Arg758Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50715713G>A" "" "likely benign" "" "0000329178" "0" "50" "22" "51154143" "51154143" "subst" "8.17327E-6" "01804" "SHANK3_000061" "g.51154143G>C" "" "" "" "SHANK3(NM_033517.1):c.2275G>C (p.(Gly771Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50715715G>C" "" "VUS" "" "0000329179" "0" "50" "22" "51158856" "51158856" "subst" "0.000392773" "01804" "SHANK3_000063" "g.51158856G>A" "" "" "" "SHANK3(NM_001372044.2):c.2820G>A (p.A940=), SHANK3(NM_033517.1):c.2558G>A (p.(Arg853Gln)), SHANK3(NM_033517.1):c.2595G>A (p.A865=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50720428G>A" "" "VUS" "" "0000329180" "0" "50" "22" "51158954" "51158954" "subst" "0" "01804" "SHANK3_000064" "g.51158954C>T" "" "" "" "SHANK3(NM_033517.1):c.2656C>T (p.(Arg886Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50720526C>T" "" "VUS" "" "0000329181" "0" "50" "22" "51159150" "51159150" "subst" "0.000931173" "01804" "SHANK3_000067" "g.51159150G>C" "" "" "" "SHANK3(NM_001372044.1):c.3081G>C (p.R1027S), SHANK3(NM_001372044.2):c.3114G>C (p.A1038=), SHANK3(NM_033517.1):c.2852G>C (p.(Arg951Pro)), SHANK3(NM...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50720722G>C" "" "VUS" "" "0000329182" "0" "50" "22" "51159169" "51159169" "subst" "0.000554197" "01804" "SHANK3_000068" "g.51159169G>T" "" "" "" "SHANK3(NM_001372044.2):c.3133G>T (p.(Trp957Cys)), SHANK3(NM_033517.1):c.2908G>T (p.A970S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50720741G>T" "" "VUS" "" "0000329184" "0" "50" "22" "51159233" "51159233" "subst" "0" "01804" "SHANK3_000069" "g.51159233G>C" "" "" "" "SHANK3(NM_033517.1):c.2935G>C (p.(Val979Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50720805G>C" "" "VUS" "" "0000329186" "0" "50" "22" "51159234" "51159234" "subst" "0" "01804" "SHANK3_000070" "g.51159234T>C" "" "" "" "SHANK3(NM_033517.1):c.2936T>C (p.(Val979Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50720806T>C" "" "VUS" "" "0000329187" "0" "30" "22" "51159293" "51159293" "subst" "0.00102068" "01804" "SHANK3_000071" "g.51159293G>T" "" "" "" "SHANK3(NM_001372044.1):c.3224G>T (p.G1075V), SHANK3(NM_033517.1):c.3032G>T (p.G1011V, p.(Gly1011Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50720865G>T" "" "likely benign" "" "0000329189" "0" "50" "22" "51159590" "51159592" "del" "0" "01804" "SHANK3_000077" "g.51159590_51159592del" "" "" "" "SHANK3(NM_033517.1):c.3292_3294del (p.(Leu1098del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50721162_50721164del" "" "VUS" "" "0000329191" "0" "30" "22" "51159798" "51159798" "subst" "0.00656699" "01804" "SHANK3_000080" "g.51159798G>A" "" "" "" "SHANK3(NM_033517.1):c.3500G>A (p.(Arg1167Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50721370G>A" "" "likely benign" "" "0000329192" "0" "50" "22" "51159877" "51159877" "subst" "2.28793E-5" "01804" "SHANK3_000081" "g.51159877C>T" "" "" "" "SHANK3(NM_001372044.2):c.3802C>T (p.(Pro1206Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50721449C>T" "" "VUS" "" "0000329193" "0" "50" "22" "51159900" "51159900" "subst" "3.6298E-5" "01804" "SHANK3_000082" "g.51159900C>T" "" "" "" "SHANK3(NM_033517.1):c.3602C>T (p.(Thr1201Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50721472C>T" "" "VUS" "" "0000329194" "0" "50" "22" "51159940" "51159940" "dup" "0" "01804" "SHANK3_000083" "g.51159940dup" "" "" "" "SHANK3(NM_001372044.1):c.3863_3864insG (p.H1288Qfs*83), SHANK3(NM_001372044.2):c.3904dupG (p.A1302Gfs*69), SHANK3(NM_033517.1):c.3634_3635insG (p....)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50721512dup" "" "VUS" "" "0000329196" "0" "30" "22" "51160154" "51160154" "subst" "0.000685" "01804" "SHANK3_000087" "g.51160154G>A" "" "" "" "SHANK3(NM_001372044.2):c.4118G>A (p.R1373K), SHANK3(NM_033517.1):c.3893G>A (p.R1298K, p.(Arg1298Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50721726G>A" "" "likely benign" "" "0000329198" "0" "50" "22" "51160295" "51160295" "subst" "0.000415042" "01804" "SHANK3_000090" "g.51160295C>T" "" "" "" "SHANK3(NM_001372044.2):c.4259C>T (p.P1420L), SHANK3(NM_033517.1):c.3997C>T (p.(His1333Tyr)), SHANK3(NM_033517.1):c.4034C>T (p.P1345L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50721867C>T" "" "VUS" "" "0000329200" "0" "50" "22" "51160413" "51160413" "subst" "1.38031E-5" "01804" "SHANK3_000091" "g.51160413C>T" "" "" "" "SHANK3(NM_033517.1):c.4115C>T (p.(Pro1372Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50721985C>T" "" "VUS" "" "0000329201" "0" "50" "22" "51160509" "51160509" "subst" "0.000102205" "01804" "SHANK3_000092" "g.51160509C>A" "" "" "" "SHANK3(NM_033517.1):c.4211C>A (p.(Pro1404Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50722081C>A" "" "VUS" "" "0000329202" "0" "50" "22" "51160533" "51160533" "subst" "0" "01804" "SHANK3_000093" "g.51160533G>A" "" "" "" "SHANK3(NM_033517.1):c.4235G>A (p.(Arg1412Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50722105G>A" "" "VUS" "" "0000329205" "0" "50" "22" "51160784" "51160784" "del" "0" "01804" "SHANK3_000096" "g.51160784del" "" "" "" "SHANK3(NM_033517.1):c.4486del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50722356del" "" "VUS" "" "0000329206" "0" "50" "22" "51169491" "51169491" "subst" "0.00678203" "01804" "SHANK3_000097" "g.51169491C>T" "" "" "" "SHANK3(NM_001372044.2):c.5172C>T (p.P1724=), SHANK3(NM_033517.1):c.4910C>T (p.(Pro1637Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50731063C>T" "" "VUS" "" "0000329207" "0" "50" "22" "51169504" "51169504" "subst" "0.00285277" "01804" "SHANK3_000098" "g.51169504C>A" "" "" "" "SHANK3(NM_033517.1):c.4923C>A (p.(Pro1654Thr)), SHANK3(NM_033517.1):c.4960C>A (p.P1654T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50731076C>A" "" "VUS" "" "0000341142" "0" "90" "22" "51159940" "51159940" "dup" "0" "02327" "SHANK3_000083" "g.51159940dup" "" "" "" "SHANK3(NM_001372044.1):c.3863_3864insG (p.H1288Qfs*83), SHANK3(NM_001372044.2):c.3904dupG (p.A1302Gfs*69), SHANK3(NM_033517.1):c.3634_3635insG (p....)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50721512dup" "" "pathogenic" "" "0000341986" "0" "50" "22" "51160864" "51160864" "subst" "4.20882E-6" "02327" "SHANK3_000113" "g.51160864C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50722436C>T" "" "VUS" "" "0000342058" "0" "50" "22" "51169601" "51169601" "subst" "0" "02327" "SHANK3_000114" "g.51169601G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50731173G>C" "" "VUS" "" "0000342113" "0" "50" "22" "51117290" "51117290" "subst" "0" "02327" "SHANK3_000103" "g.51117290G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50678862G>A" "" "VUS" "" "0000344534" "0" "90" "22" "51160126" "51160126" "subst" "0" "02327" "SHANK3_000109" "g.51160126C>T" "" "" "" "SHANK3(NM_001372044.2):c.4090C>T (p.Q1364*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50721698C>T" "" "pathogenic" "" "0000348652" "0" "90" "22" "51159474" "51159474" "del" "0" "02327" "SHANK3_000108" "g.51159474del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50721046del" "" "pathogenic" "" "0000350284" "0" "90" "22" "51160326" "51160327" "del" "0" "02327" "SHANK3_000111" "g.51160326_51160327del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50721898_50721899del" "" "pathogenic" "" "0000350758" "0" "50" "22" "51115048" "51115048" "subst" "0" "02327" "SHANK3_000101" "g.51115048A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50676620A>T" "" "VUS" "" "0000351272" "0" "90" "22" "51117195" "51117195" "subst" "0" "02327" "SHANK3_000102" "g.51117195A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50678767A>G" "" "pathogenic" "" "0000351273" "0" "90" "22" "51153476" "51153476" "subst" "0" "02327" "SHANK3_000059" "g.51153476G>A" "" "" "" "SHANK3(NM_001372044.2):c.2490+1G>A, SHANK3(NM_033517.1):c.2228+1G>A (p.?), SHANK3(NM_033517.1):c.2265+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50715048G>A" "" "pathogenic" "" "0000368959" "0" "90" "22" "51159306" "51159316" "del" "0" "01807" "SHANK3_000117" "g.51159306_51159316del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50720878_50720888del" "" "pathogenic" "" "0000379121" "0" "90" "22" "51159928" "51159928" "dup" "0" "02537" "SHANK3_000116" "g.51159928dup" "" "{PMID:Du 2018:30555518}" "" "3630dupG (L1210fs)" "sequence is not c.3630G (but C) nor linked to Leu 1210" "De novo" "" "" "0" "" "" "g.50721500dup" "" "pathogenic" "" "0000458923" "0" "50" "22" "51121832" "51121832" "subst" "4.10823E-6" "00006" "SHANK3_000118" "g.51121832A>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50683404A>G" "" "VUS" "" "0000572454" "0" "30" "22" "51117039" "51117039" "subst" "2.45481E-5" "01943" "SHANK3_000119" "g.51117039C>T" "" "" "" "SHANK3(NM_033517.1):c.366C>T (p.Y122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50678611C>T" "" "likely benign" "" "0000572455" "0" "10" "22" "51117137" "51117137" "subst" "0.35507" "02330" "SHANK3_000016" "g.51117137G>A" "" "" "" "SHANK3(NM_001372044.2):c.673+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50678709G>A" "" "benign" "" "0000572456" "0" "30" "22" "51117219" "51117219" "subst" "0.000110286" "02326" "SHANK3_000120" "g.51117219C>T" "" "" "" "SHANK3(NM_001372044.1):c.698C>T (p.P233L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50678791C>T" "" "likely benign" "" "0000572458" "0" "30" "22" "51117492" "51117492" "subst" "0" "01804" "SHANK3_000122" "g.51117492G>A" "" "" "" "SHANK3(NM_033517.1):c.646G>A (p.(Gly216Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50679064G>A" "" "likely benign" "" "0000572459" "0" "10" "22" "51117580" "51117580" "subst" "0.427556" "02330" "SHANK3_000019" "g.51117580T>C" "" "" "" "SHANK3(NM_001372044.2):c.959T>C (p.I320T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50679152T>C" "" "benign" "" "0000572462" "0" "30" "22" "51117861" "51117861" "subst" "8.31304E-5" "02326" "SHANK3_000124" "g.51117861G>T" "" "" "" "SHANK3(NM_001372044.1):c.1112+5G>T, SHANK3(NM_033517.1):c.885+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50679433G>T" "" "likely benign" "" "0000572470" "0" "30" "22" "51121760" "51121760" "subst" "0.00230499" "01804" "SHANK3_000132" "g.51121760C>T" "" "" "" "SHANK3(NM_033517.1):c.886-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50683332C>T" "" "likely benign" "" "0000572472" "0" "10" "22" "51121773" "51121773" "subst" "0.00372051" "02330" "SHANK3_000134" "g.51121773C>T" "" "" "" "SHANK3(NM_001372044.2):c.1188+651C>T, SHANK3(NM_033517.1):c.891C>T (p.S297=, p.(Ser297=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50683345C>T" "" "benign" "" "0000572473" "0" "30" "22" "51121853" "51121853" "subst" "4.61038E-5" "02326" "SHANK3_000135" "g.51121853G>A" "" "" "" "SHANK3(NM_001372044.1):c.1190+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50683425G>A" "" "likely benign" "" "0000572474" "0" "30" "22" "51123092" "51123092" "subst" "0.00185158" "02330" "SHANK3_000136" "g.51123092C>T" "" "" "" "SHANK3(NM_001372044.2):c.1255+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50684664C>T" "" "likely benign" "" "0000572475" "0" "30" "22" "51133417" "51133417" "subst" "0.00136809" "01943" "SHANK3_000137" "g.51133417C>T" "" "" "" "SHANK3(NM_001372044.2):c.1470C>T (p.(Ala490Ala)), SHANK3(NM_033517.1):c.1245C>T (p.A415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50694989C>T" "" "likely benign" "" "0000572477" "0" "50" "22" "51135986" "51135992" "del" "0" "01804" "SHANK3_000139" "g.51135986_51135992del" "" "" "" "SHANK3(NM_001372044.2):c.1256-618_1256-612delTCGGTTC, SHANK3(NM_033517.1):c.1303_1309del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50697558_50697564del" "" "VUS" "" "0000572478" "0" "10" "22" "51137249" "51137249" "subst" "0.801738" "02330" "SHANK3_000048" "g.51137249T>C" "" "" "" "SHANK3(NM_001372044.2):c.1837+18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50698821T>C" "" "benign" "" "0000572479" "0" "10" "22" "51142280" "51142280" "subst" "0.00595117" "02330" "SHANK3_000140" "g.51142280C>T" "" "" "" "SHANK3(NM_001372044.2):c.1799-8C>T (p.(=)), SHANK3(NM_001372044.2):c.1838-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50703852C>T" "" "benign" "" "0000572480" "0" "10" "22" "51142381" "51142381" "subst" "0.185761" "02330" "SHANK3_000141" "g.51142381G>A" "" "" "" "SHANK3(NM_001372044.2):c.1913+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50703953G>A" "" "benign" "" "0000572481" "0" "10" "22" "51142692" "51142692" "subst" "0.00536281" "02330" "SHANK3_000142" "g.51142692T>A" "" "" "" "SHANK3(NM_001372044.2):c.1996+16T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50704264T>A" "" "benign" "" "0000572482" "0" "10" "22" "51143197" "51143197" "subst" "0.000911511" "01943" "SHANK3_000050" "g.51143197G>A" "" "" "" "SHANK3(NM_033517.1):c.1766G>A (p.(Arg589His)), SHANK3(NM_033517.1):c.1803G>A (p.T601=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50704769G>A" "" "benign" "" "0000572483" "0" "10" "22" "51143309" "51143309" "subst" "0.050009" "02330" "SHANK3_000143" "g.51143309G>C" "" "" "" "SHANK3(NM_001372044.2):c.2121+19G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50704881G>C" "" "benign" "" "0000572484" "0" "30" "22" "51144590" "51144590" "subst" "0.00117961" "01943" "SHANK3_000144" "g.51144590G>A" "" "" "" "SHANK3(NM_033517.1):c.2110+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50706162G>A" "" "likely benign" "" "0000572485" "0" "30" "22" "51153371" "51153371" "subst" "0.0339644" "01804" "SHANK3_000145" "g.51153371G>A" "" "" "" "SHANK3(NM_001372044.2):c.2386G>A (p.A796T), SHANK3(NM_033517.1):c.2161G>A (p.(Ala721Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50714943G>A" "" "likely benign" "" "0000572486" "0" "90" "22" "51153476" "51153476" "subst" "0" "02325" "SHANK3_000059" "g.51153476G>A" "" "" "" "SHANK3(NM_001372044.2):c.2490+1G>A, SHANK3(NM_033517.1):c.2228+1G>A (p.?), SHANK3(NM_033517.1):c.2265+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50715048G>A" "" "pathogenic" "" "0000572488" "0" "70" "22" "51158614" "51158614" "dup" "0" "02329" "SHANK3_000147" "g.51158614dup" "" "" "" "SHANK3(NM_001372044.2):c.2576-2_2576-1insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50720186dup" "" "likely pathogenic" "" "0000572490" "0" "50" "22" "51158710" "51158710" "subst" "0" "01943" "SHANK3_000149" "g.51158710C>A" "" "" "" "SHANK3(NM_033517.1):c.2449C>A (p.P817T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50720282C>A" "" "VUS" "" "0000572491" "0" "30" "22" "51158739" "51158739" "subst" "0.000115367" "01943" "SHANK3_000150" "g.51158739G>A" "" "" "" "SHANK3(NM_033517.1):c.2478G>A (p.A826=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50720311G>A" "" "likely benign" "" "0000572493" "0" "30" "22" "51158835" "51158835" "subst" "0" "02326" "SHANK3_000151" "g.51158835C>T" "" "" "" "SHANK3(NM_001372044.1):c.2766C>T (p.A922=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50720407C>T" "" "likely benign" "" "0000572494" "0" "30" "22" "51158856" "51158856" "subst" "0.000392773" "01943" "SHANK3_000063" "g.51158856G>A" "" "" "" "SHANK3(NM_001372044.2):c.2820G>A (p.A940=), SHANK3(NM_033517.1):c.2558G>A (p.(Arg853Gln)), SHANK3(NM_033517.1):c.2595G>A (p.A865=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50720428G>A" "" "likely benign" "" "0000572497" "0" "30" "22" "51159150" "51159150" "subst" "0.000931173" "01943" "SHANK3_000067" "g.51159150G>C" "" "" "" "SHANK3(NM_001372044.1):c.3081G>C (p.R1027S), SHANK3(NM_001372044.2):c.3114G>C (p.A1038=), SHANK3(NM_033517.1):c.2852G>C (p.(Arg951Pro)), SHANK3(NM...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50720722G>C" "" "likely benign" "" "0000572498" "0" "30" "22" "51159150" "51159150" "subst" "0.000931173" "02326" "SHANK3_000067" "g.51159150G>C" "" "" "" "SHANK3(NM_001372044.1):c.3081G>C (p.R1027S), SHANK3(NM_001372044.2):c.3114G>C (p.A1038=), SHANK3(NM_033517.1):c.2852G>C (p.(Arg951Pro)), SHANK3(NM...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50720722G>C" "" "likely benign" "" "0000572499" "0" "10" "22" "51159258" "51159258" "subst" "0.00431034" "02330" "SHANK3_000153" "g.51159258C>T" "" "" "" "SHANK3(NM_001372044.2):c.3222C>T (p.Y1074=), SHANK3(NM_033517.1):c.2997C>T (p.(Tyr999=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50720830C>T" "" "benign" "" "0000572500" "0" "10" "22" "51159258" "51159258" "subst" "0.00431034" "01804" "SHANK3_000153" "g.51159258C>T" "" "" "" "SHANK3(NM_001372044.2):c.3222C>T (p.Y1074=), SHANK3(NM_033517.1):c.2997C>T (p.(Tyr999=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50720830C>T" "" "benign" "" "0000572502" "0" "50" "22" "51159488" "51159488" "subst" "0" "01943" "SHANK3_000155" "g.51159488C>G" "" "" "" "SHANK3(NM_033517.1):c.3227C>G (p.A1076G, p.(Thr1076Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50721060C>G" "" "VUS" "" "0000572503" "0" "90" "22" "51159604" "51159604" "subst" "0" "02327" "SHANK3_000156" "g.51159604C>T" "" "" "" "SHANK3(NM_001372044.2):c.3568C>T (p.R1190*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50721176C>T" "" "pathogenic" "" "0000572504" "0" "50" "22" "51159820" "51159820" "subst" "4.10732E-6" "01943" "SHANK3_000157" "g.51159820T>A" "" "" "" "SHANK3(NM_033517.1):c.3559T>A (p.S1187T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50721392T>A" "" "VUS" "" "0000572505" "0" "10" "22" "51160140" "51160140" "subst" "0.00204801" "02330" "SHANK3_000158" "g.51160140C>T" "" "" "" "SHANK3(NM_001372044.2):c.4104C>T (p.S1368=), SHANK3(NM_033517.1):c.3842C>T (p.(Ala1281Val)), SHANK3(NM_033517.1):c.3879C>T (p.S1293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50721712C>T" "" "benign" "" "0000572506" "0" "30" "22" "51160140" "51160140" "subst" "0.00204801" "01804" "SHANK3_000158" "g.51160140C>T" "" "" "" "SHANK3(NM_001372044.2):c.4104C>T (p.S1368=), SHANK3(NM_033517.1):c.3842C>T (p.(Ala1281Val)), SHANK3(NM_033517.1):c.3879C>T (p.S1293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50721712C>T" "" "likely benign" "" "0000572507" "0" "90" "22" "51160168" "51160168" "del" "0" "02325" "SHANK3_000159" "g.51160168del" "" "" "" "SHANK3(NM_001372044.2):c.4132delC (p.R1378Efs*83)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50721740del" "" "pathogenic" "" "0000572510" "0" "30" "22" "51160528" "51160528" "subst" "0" "01804" "SHANK3_000162" "g.51160528G>T" "" "" "" "SHANK3(NM_033517.1):c.4230G>T (p.(Trp1410Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50722100G>T" "" "likely benign" "" "0000572511" "0" "30" "22" "51160538" "51160538" "subst" "3.30841E-5" "01804" "SHANK3_000163" "g.51160538C>T" "" "" "" "SHANK3(NM_033517.1):c.4240C>T (p.(Arg1414Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50722110C>T" "" "likely benign" "" "0000572513" "0" "70" "22" "51169211" "51169211" "del" "0" "01804" "SHANK3_000165" "g.51169211del" "" "" "" "SHANK3(NM_033517.1):c.4630del (p.(Gly1556AlafsTer8))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50730783del" "" "likely pathogenic" "" "0000572514" "0" "30" "22" "51169344" "51169344" "subst" "0" "01943" "SHANK3_000166" "g.51169344C>T" "" "" "" "SHANK3(NM_033517.1):c.4800C>T (p.P1600=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50730916C>T" "" "likely benign" "" "0000572515" "0" "30" "22" "51169434" "51169434" "subst" "0" "01804" "SHANK3_000167" "g.51169434G>T" "" "" "" "SHANK3(NM_033517.1):c.4853G>T (p.(Ter1618LeuextTer?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50731006G>T" "" "likely benign" "" "0000572516" "0" "30" "22" "51169504" "51169504" "subst" "0.00285277" "01943" "SHANK3_000098" "g.51169504C>A" "" "" "" "SHANK3(NM_033517.1):c.4923C>A (p.(Pro1654Thr)), SHANK3(NM_033517.1):c.4960C>A (p.P1654T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50731076C>A" "" "likely benign" "" "0000572517" "0" "50" "22" "51169619" "51169619" "subst" "0" "01943" "SHANK3_000168" "g.51169619A>G" "" "" "" "SHANK3(NM_033517.1):c.5075A>G (p.H1692R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50731191A>G" "" "VUS" "" "0000572518" "0" "30" "22" "51169731" "51169731" "subst" "0" "02330" "SHANK3_000169" "g.51169731C>T" "" "" "" "SHANK3(NM_001372044.1):c.5379C>T (p.R1793=), SHANK3(NM_001372044.2):c.5412C>T (p.D1804=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50731303C>T" "" "likely benign" "" "0000572519" "0" "30" "22" "51169731" "51169731" "subst" "0" "02326" "SHANK3_000169" "g.51169731C>T" "" "" "" "SHANK3(NM_001372044.1):c.5379C>T (p.R1793=), SHANK3(NM_001372044.2):c.5412C>T (p.D1804=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50731303C>T" "" "likely benign" "" "0000604193" "0" "70" "22" "51159517" "51159517" "del" "0" "01428" "SHANK3_000170" "g.51159517del" "" "" "" "3218delC" "" "De novo" "" "" "0" "" "" "g.50721089del" "" "pathogenic" "" "0000618664" "0" "30" "22" "51113661" "51113661" "subst" "0.00280297" "01943" "SHANK3_000171" "g.51113661G>T" "" "" "" "SHANK3(NM_033517.1):c.249G>T (p.T83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50675233G>T" "" "likely benign" "" "0000618665" "0" "50" "22" "51117349" "51117349" "subst" "0" "02327" "SHANK3_000172" "g.51117349G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50678921G>A" "" "VUS" "" "0000618666" "0" "30" "22" "51121773" "51121773" "subst" "0.00372051" "01943" "SHANK3_000134" "g.51121773C>T" "" "" "" "SHANK3(NM_001372044.2):c.1188+651C>T, SHANK3(NM_033517.1):c.891C>T (p.S297=, p.(Ser297=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50683345C>T" "" "likely benign" "" "0000618667" "0" "50" "22" "51135982" "51135983" "ins" "0" "01804" "SHANK3_000175" "g.51135982_51135983insC" "" "" "" "SHANK3(NM_001372044.2):c.1256-622_1256-621insC, SHANK3(NM_033517.1):c.1303-3_1303-2insC (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50697554_50697555insC" "" "VUS" "" "0000618668" "0" "50" "22" "51135999" "51135999" "subst" "0" "01804" "SHANK3_000176" "g.51135999C>G" "" "" "" "SHANK3(NM_033517.1):c.1317C>G (p.(Pro452Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50697571C>G" "" "VUS" "" "0000618669" "0" "30" "22" "51150076" "51150076" "subst" "0.000120514" "02326" "SHANK3_000177" "g.51150076C>T" "" "" "" "SHANK3(NM_001372044.1):c.2326+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50711648C>T" "" "likely benign" "" "0000618670" "0" "90" "22" "51154103" "51154106" "del" "0" "02327" "SHANK3_000178" "g.51154103_51154106del" "" "" "" "SHANK3(NM_001372044.1):c.2461_2464delTTGT (p.S821Gfs*37)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50715675_50715678del" "" "pathogenic" "" "0000618671" "0" "30" "22" "51159150" "51159150" "subst" "0.000931173" "02330" "SHANK3_000067" "g.51159150G>C" "" "" "" "SHANK3(NM_001372044.1):c.3081G>C (p.R1027S), SHANK3(NM_001372044.2):c.3114G>C (p.A1038=), SHANK3(NM_033517.1):c.2852G>C (p.(Arg951Pro)), SHANK3(NM...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50720722G>C" "" "likely benign" "" "0000618672" "0" "30" "22" "51159293" "51159293" "subst" "0.00102068" "02326" "SHANK3_000071" "g.51159293G>T" "" "" "" "SHANK3(NM_001372044.1):c.3224G>T (p.G1075V), SHANK3(NM_033517.1):c.3032G>T (p.G1011V, p.(Gly1011Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50720865G>T" "" "likely benign" "" "0000618673" "0" "90" "22" "51159403" "51159403" "subst" "0" "02327" "SHANK3_000179" "g.51159403C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50720975C>T" "" "pathogenic" "" "0000618674" "0" "70" "22" "51159556" "51159581" "del" "0" "02327" "SHANK3_000180" "g.51159556_51159581del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50721128_50721153del" "" "likely pathogenic" "" "0000618675" "0" "10" "22" "51159624" "51159624" "subst" "0.00375521" "02330" "SHANK3_000181" "g.51159624C>T" "" "" "" "SHANK3(NM_001372044.2):c.3588C>T (p.S1196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50721196C>T" "" "benign" "" "0000618676" "0" "70" "22" "51159657" "51159658" "del" "0" "01804" "SHANK3_000182" "g.51159657_51159658del" "" "" "" "SHANK3(NM_033517.1):c.3357_3358del (p.(His1132GlnfsTer163))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50721229_50721230del" "" "likely pathogenic" "" "0000618677" "0" "30" "22" "51159852" "51159852" "subst" "6.73735E-5" "02326" "SHANK3_000183" "g.51159852C>T" "" "" "" "SHANK3(NM_001372044.1):c.3783C>T (p.N1261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50721424C>T" "" "likely benign" "" "0000618678" "0" "30" "22" "51159995" "51159995" "subst" "0.000377613" "01804" "SHANK3_000184" "g.51159995C>T" "" "" "" "SHANK3(NM_001372044.1):c.3926C>T (p.T1309I), SHANK3(NM_033517.1):c.3734C>T (p.(Ala1245Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50721567C>T" "" "likely benign" "" "0000618679" "0" "70" "22" "51160013" "51160025" "del" "0" "01943" "SHANK3_000185" "g.51160013_51160025del" "" "" "" "SHANK3(NM_033517.1):c.3752_3764delTGCCCAGCCCCCG (p.L1251Rfs*29)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50721585_50721597del" "" "likely pathogenic" "" "0000618680" "0" "30" "22" "51160848" "51160848" "subst" "1.25749E-5" "01943" "SHANK3_000186" "g.51160848G>A" "" "" "" "SHANK3(NM_033517.1):c.4587G>A (p.S1529=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50722420G>A" "" "likely benign" "" "0000624336" "0" "90" "22" "51133251" "51133251" "dup" "0" "02330" "SHANK3_000173" "g.51133251dup" "" "" "" "SHANK3(NM_033517.1):c.1079dupG (p.S362Qfs*51)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50694823dup" "" "pathogenic" "" "0000624337" "0" "10" "22" "51135954" "51135954" "subst" "0" "02330" "SHANK3_000174" "g.51135954G>A" "" "" "" "SHANK3(NM_001372044.2):c.1530-283G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50697526G>A" "" "benign" "" "0000624338" "0" "10" "22" "51153371" "51153371" "subst" "0.0339644" "02330" "SHANK3_000145" "g.51153371G>A" "" "" "" "SHANK3(NM_001372044.2):c.2386G>A (p.A796T), SHANK3(NM_033517.1):c.2161G>A (p.(Ala721Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50714943G>A" "" "benign" "" "0000624339" "0" "50" "22" "51159293" "51159293" "subst" "0.00102068" "01943" "SHANK3_000071" "g.51159293G>T" "" "" "" "SHANK3(NM_001372044.1):c.3224G>T (p.G1075V), SHANK3(NM_033517.1):c.3032G>T (p.G1011V, p.(Gly1011Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50720865G>T" "" "VUS" "" "0000631941" "0" "90" "22" "51159476" "51159491" "dup" "0" "01807" "SHANK3_000187" "g.51159476_51159491dup" "" "" "" "3173_3188dupCCCCGGTGTCTGCCCT" "" "Unknown" "" "" "0" "" "" "g.50721048_50721063dup" "" "pathogenic" "" "0000651029" "1" "10" "22" "51154141" "51154141" "subst" "0.0063076" "03575" "SHANK3_000060" "g.51154141G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs117066889}" "Germline" "" "rs117066889" "0" "" "" "g.50715713G>A" "" "benign" "" "0000651030" "1" "10" "22" "51159624" "51159624" "subst" "0.00375521" "03575" "SHANK3_000181" "g.51159624C>T" "4/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous; {DB:CLININrs200077311}" "Germline" "" "rs200077311" "0" "" "" "g.50721196C>T" "" "benign" "" "0000651031" "1" "10" "22" "51160707" "51160707" "subst" "0.00152625" "03575" "SHANK3_000188" "g.51160707G>A" "1/2785 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs191010623}" "Germline" "" "rs191010623" "0" "" "" "g.50722279G>A" "" "benign" "" "0000658991" "0" "30" "22" "51116998" "51116998" "subst" "3.51494E-5" "02330" "SHANK3_000189" "g.51116998C>T" "" "" "" "SHANK3(NM_001372044.2):c.565-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50678570C>T" "" "likely benign" "" "0000658992" "0" "10" "22" "51135969" "51135981" "del" "0" "02330" "SHANK3_000190" "g.51135969_51135981del" "" "" "" "SHANK3(NM_001372044.2):c.1256-635_1256-623delTGTATTCGAATTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50697541_50697553del" "" "benign" "" "0000658993" "0" "10" "22" "51135982" "51135983" "ins" "0" "02330" "SHANK3_000175" "g.51135982_51135983insC" "" "" "" "SHANK3(NM_001372044.2):c.1256-622_1256-621insC, SHANK3(NM_033517.1):c.1303-3_1303-2insC (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50697554_50697555insC" "" "benign" "" "0000658994" "0" "10" "22" "51135986" "51135992" "del" "0" "02330" "SHANK3_000139" "g.51135986_51135992del" "" "" "" "SHANK3(NM_001372044.2):c.1256-618_1256-612delTCGGTTC, SHANK3(NM_033517.1):c.1303_1309del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50697558_50697564del" "" "benign" "" "0000658995" "0" "30" "22" "51136164" "51136173" "del" "0" "02330" "SHANK3_000045" "g.51136164_51136173del" "" "" "" "SHANK3(NM_001372044.2):c.1684+21_1684+30del (p.?), SHANK3(NM_001372044.2):c.1723+5_1723+14delGGGGCGCGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50697736_50697745del" "" "likely benign" "" "0000658996" "0" "30" "22" "51143287" "51143287" "subst" "0.000289467" "01943" "SHANK3_000191" "g.51143287C>T" "" "" "" "SHANK3(NM_033517.1):c.1893C>T (p.I631=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50704859C>T" "" "likely benign" "" "0000658997" "0" "10" "22" "51144513" "51144513" "subst" "0.00595199" "02330" "SHANK3_000053" "g.51144513C>G" "" "" "" "SHANK3(NM_001372044.2):c.2268C>G (p.P756=), SHANK3(NM_033517.1):c.2043C>G (p.P681=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50706085C>G" "" "benign" "" "0000658999" "0" "10" "22" "51159953" "51159953" "subst" "0.000173669" "02330" "SHANK3_000193" "g.51159953G>A" "" "" "" "SHANK3(NM_001372044.2):c.3917G>A (p.R1306H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50721525G>A" "" "benign" "" "0000659000" "0" "90" "22" "51160126" "51160126" "subst" "0" "02325" "SHANK3_000109" "g.51160126C>T" "" "" "" "SHANK3(NM_001372044.2):c.4090C>T (p.Q1364*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50721698C>T" "" "pathogenic" "" "0000659001" "0" "10" "22" "51160877" "51160877" "subst" "0.00249373" "02330" "SHANK3_000194" "g.51160877G>A" "" "" "" "SHANK3(NM_001372044.2):c.4829+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50722449G>A" "" "benign" "" "0000659002" "0" "10" "22" "51169491" "51169491" "subst" "0.00678203" "02330" "SHANK3_000097" "g.51169491C>T" "" "" "" "SHANK3(NM_001372044.2):c.5172C>T (p.P1724=), SHANK3(NM_033517.1):c.4910C>T (p.(Pro1637Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50731063C>T" "" "benign" "" "0000660577" "0" "90" "22" "51159170" "51159185" "dup" "0" "00006" "SHANK3_000195" "g.51159170_51159185dup" "" "{PMID:Redin 2014:25167861}" "" "" "" "De novo" "" "" "0" "" "" "g.50720742_50720757dup" "" "pathogenic (dominant)" "" "0000660694" "0" "70" "22" "51159479" "51159479" "del" "0" "01164" "SHANK3_000196" "g.51159479del" "" "" "" "" "ACMG grading: PVS1,PM2" "Germline" "" "" "0" "" "" "g.50721051del" "" "likely pathogenic" "ACMG" "0000669731" "3" "10" "22" "51159624" "51159624" "subst" "0.00375521" "03575" "SHANK3_000181" "g.51159624C>T" "1/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs200077311}" "Germline" "" "rs200077311" "0" "" "" "g.50721196C>T" "" "benign" "" "0000681947" "0" "30" "22" "51117628" "51117628" "subst" "8.38954E-5" "02326" "SHANK3_000197" "g.51117628C>T" "" "" "" "SHANK3(NM_001372044.1):c.995+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681948" "0" "30" "22" "51123091" "51123091" "subst" "0.000106242" "02326" "SHANK3_000198" "g.51123091C>T" "" "" "" "SHANK3(NM_001372044.1):c.1257+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681949" "0" "70" "22" "51135696" "51135696" "del" "0" "02327" "SHANK3_000199" "g.51135696del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000681950" "0" "30" "22" "51158694" "51158694" "subst" "0" "01943" "SHANK3_000200" "g.51158694C>G" "" "" "" "SHANK3(NM_033517.1):c.2433C>G (p.R811=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681951" "0" "50" "22" "51159238" "51159238" "subst" "0" "01804" "SHANK3_000201" "g.51159238C>A" "" "" "" "SHANK3(NM_033517.1):c.2940C>A (p.(Arg993Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681952" "0" "70" "22" "51159651" "51159651" "del" "0" "01804" "SHANK3_000202" "g.51159651del" "" "" "" "SHANK3(NM_033517.1):c.3353del (p.(Val1131CysfsTer64))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000681953" "0" "70" "22" "51159652" "51159652" "subst" "0" "01804" "SHANK3_000203" "g.51159652G>T" "" "" "" "SHANK3(NM_033517.1):c.3354G>T (p.(Val1131Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000681954" "0" "30" "22" "51160524" "51160524" "subst" "4.92534E-5" "01943" "SHANK3_000204" "g.51160524G>A" "" "" "" "SHANK3(NM_033517.1):c.4263G>A (p.P1421=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681955" "0" "30" "22" "51160557" "51160557" "subst" "2.51769E-5" "01943" "SHANK3_000205" "g.51160557G>A" "" "" "" "SHANK3(NM_033517.1):c.4296G>A (p.P1432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681956" "0" "50" "22" "51160850" "51160850" "subst" "0" "02327" "SHANK3_000206" "g.51160850C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693226" "0" "30" "22" "51136159" "51136159" "subst" "0" "01943" "SHANK3_000207" "g.51136159G>A" "" "" "" "SHANK3(NM_033517.1):c.1472G>A (p.R491Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693227" "0" "10" "22" "51154141" "51154141" "subst" "0.0063076" "02330" "SHANK3_000060" "g.51154141G>A" "" "" "" "SHANK3(NM_001372044.2):c.2535G>A (p.P845=), SHANK3(NM_033517.1):c.2273G>A (p.(Arg758Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000693228" "0" "10" "22" "51158856" "51158856" "subst" "0.000392773" "02330" "SHANK3_000063" "g.51158856G>A" "" "" "" "SHANK3(NM_001372044.2):c.2820G>A (p.A940=), SHANK3(NM_033517.1):c.2558G>A (p.(Arg853Gln)), SHANK3(NM_033517.1):c.2595G>A (p.A865=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000693229" "0" "30" "22" "51159939" "51159939" "subst" "7.04541E-5" "02330" "SHANK3_000208" "g.51159939G>T" "" "" "" "SHANK3(NM_001372044.2):c.3903G>T (p.G1301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000704171" "0" "90" "22" "51160025" "51160037" "del" "0" "01807" "SHANK3_000209" "g.51160025_51160037del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50721597_50721609del" "" "pathogenic" "" "0000728235" "0" "50" "22" "51117016" "51117016" "subst" "0" "02325" "SHANK3_000210" "g.51117016A>T" "" "" "" "SHANK3(NM_001372044.2):c.568A>T (p.N190Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728236" "0" "30" "22" "51123059" "51123059" "subst" "8.14989E-6" "02326" "SHANK3_000035" "g.51123059C>T" "" "" "" "SHANK3(NM_001372044.1):c.1237C>T (p.H413Y), SHANK3(NM_033517.1):c.1010C>T (p.(Thr337Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728237" "0" "90" "22" "51133251" "51133251" "dup" "0" "02329" "SHANK3_000173" "g.51133251dup" "" "" "" "SHANK3(NM_001372044.2):c.1304dupG (p.S437Qfs*51)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000728238" "0" "90" "22" "51153476" "51153476" "subst" "0" "02329" "SHANK3_000146" "g.51153476G>C" "" "" "" "SHANK3(NM_001372044.2):c.2490+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000728239" "0" "90" "22" "51159313" "51159314" "ins" "0" "02329" "SHANK3_000154" "g.51159313_51159314insCGCC" "" "" "" "SHANK3(NM_001372044.2):c.3277_3278insCGCC (p.R1093Pfs*279)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000728240" "0" "30" "22" "51159652" "51159652" "subst" "8.8408E-6" "01804" "SHANK3_000211" "g.51159652G>C" "" "" "" "SHANK3(NM_033517.1):c.3391G>C (p.(Val1131Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728241" "0" "90" "22" "51160029" "51160041" "del" "0" "02329" "SHANK3_000212" "g.51160029_51160041del" "" "" "" "SHANK3(NM_001372044.2):c.3993_4005delCCAGCCCCCTGGT (p.Q1332Afs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000728242" "0" "30" "22" "51160140" "51160140" "subst" "0.00204801" "01943" "SHANK3_000158" "g.51160140C>T" "" "" "" "SHANK3(NM_001372044.2):c.4104C>T (p.S1368=), SHANK3(NM_033517.1):c.3842C>T (p.(Ala1281Val)), SHANK3(NM_033517.1):c.3879C>T (p.S1293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728243" "0" "30" "22" "51160295" "51160295" "subst" "0.000415042" "02330" "SHANK3_000090" "g.51160295C>T" "" "" "" "SHANK3(NM_001372044.2):c.4259C>T (p.P1420L), SHANK3(NM_033517.1):c.3997C>T (p.(His1333Tyr)), SHANK3(NM_033517.1):c.4034C>T (p.P1345L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728244" "0" "90" "22" "51169292" "51169292" "subst" "0" "02327" "SHANK3_000213" "g.51169292C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000763599" "0" "90" "22" "51159935" "51159935" "dup" "0" "01164" "SHANK3_000214" "g.51159935dup" "" "" "" "" "ACMG: PVS1, PS4, PM2_SUP" "Germline" "?" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000788897" "0" "70" "22" "0" "0" "" "0" "00006" "LARGE_000000" "g.?" "" "{PMID:Srivastava 2014:25131622}" "" "NM_001080420.1:c.3727dupG (A1243GfsX69)" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000788917" "0" "70" "22" "0" "0" "" "0" "00006" "LARGE_000000" "g.?" "" "{PMID:Srivastava 2014:25131622}" "" "NM_001080420.1:c.3812_3824del13 (R1271LfsX25)" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000809687" "0" "30" "22" "51117231" "51117231" "subst" "0.00115789" "01804" "SHANK3_000215" "g.51117231C>T" "" "" "" "SHANK3(NM_033517.1):c.483C>T (p.(Asn161=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809688" "0" "30" "22" "51117733" "51117733" "subst" "0.000907972" "01804" "SHANK3_000216" "g.51117733C>G" "" "" "" "SHANK3(NM_001372044.2):c.994-7C>G, SHANK3(NM_033517.1):c.769-7C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809689" "0" "70" "22" "51121790" "51121790" "subst" "0" "02327" "SHANK3_000217" "g.51121790T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000809690" "0" "30" "22" "51121823" "51121823" "subst" "0" "02327" "SHANK3_000218" "g.51121823A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809691" "0" "30" "22" "51121852" "51121852" "subst" "0.000536724" "01943" "SHANK3_000219" "g.51121852C>T" "" "" "" "SHANK3(NM_033517.1):c.963+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809692" "0" "30" "22" "51133460" "51133460" "subst" "0.000497218" "01943" "SHANK3_000220" "g.51133460G>A" "" "" "" "SHANK3(NM_033517.1):c.1288G>A (p.G430S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809693" "0" "30" "22" "51153374" "51153374" "subst" "0" "01943" "SHANK3_000221" "g.51153374G>A" "" "" "" "SHANK3(NM_033517.1):c.2164G>A (p.A722T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809694" "0" "30" "22" "51154151" "51154151" "subst" "0" "01943" "SHANK3_000222" "g.51154151C>A" "" "" "" "SHANK3(NM_033517.1):c.2320C>A (p.R774=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809695" "0" "30" "22" "51159067" "51159067" "subst" "0" "01943" "SHANK3_000223" "g.51159067G>A" "" "" "" "SHANK3(NM_033517.1):c.2806G>A (p.A936T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809696" "0" "30" "22" "51159846" "51159846" "subst" "4.5921E-5" "02326" "SHANK3_000224" "g.51159846C>T" "" "" "" "SHANK3(NM_001372044.1):c.3777C>T (p.D1259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809697" "0" "90" "22" "51159940" "51159940" "dup" "0" "02326" "SHANK3_000083" "g.51159940dup" "" "" "" "SHANK3(NM_001372044.1):c.3863_3864insG (p.H1288Qfs*83), SHANK3(NM_001372044.2):c.3904dupG (p.A1302Gfs*69), SHANK3(NM_033517.1):c.3634_3635insG (p....)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000809698" "0" "90" "22" "51159940" "51159940" "dup" "0" "02329" "SHANK3_000083" "g.51159940dup" "" "" "" "SHANK3(NM_001372044.1):c.3863_3864insG (p.H1288Qfs*83), SHANK3(NM_001372044.2):c.3904dupG (p.A1302Gfs*69), SHANK3(NM_033517.1):c.3634_3635insG (p....)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000809699" "0" "30" "22" "51159995" "51159995" "subst" "0.000377613" "02326" "SHANK3_000184" "g.51159995C>T" "" "" "" "SHANK3(NM_001372044.1):c.3926C>T (p.T1309I), SHANK3(NM_033517.1):c.3734C>T (p.(Ala1245Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809700" "0" "30" "22" "51169496" "51169496" "subst" "8.7135E-5" "01943" "SHANK3_000225" "g.51169496C>T" "" "" "" "SHANK3(NM_033517.1):c.4952C>T (p.P1651L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000817863" "3" "50" "22" "51160694" "51160694" "subst" "0" "00006" "SHANK3_000226" "g.51160694T>C" "" "{PMID:Hu 2019:29302074}" "" "NM_033517:c.4391T>C (Val1464Ala)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000829321" "0" "70" "22" "51159485" "51159486" "ins" "0" "01164" "SHANK3_000227" "g.51159485_51159486insGCTCTCCCCGA" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000836777" "0" "70" "22" "51159940" "51159940" "dup" "0" "02494" "SHANK3_000083" "g.51159940dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.50721512dup" "" "likely pathogenic (dominant)" "" "0000846476" "0" "70" "22" "51159485" "51159486" "ins" "0" "01164" "SHANK3_000227" "g.51159485_51159486insGCTCTCCCCGA" "" "" "" "" "ACMG: PVS1, PS2, PM2_SUP" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000856210" "0" "50" "22" "51117311" "51117311" "subst" "0" "02325" "SHANK3_000228" "g.51117311A>G" "" "" "" "SHANK3(NM_001372044.2):c.788A>G (p.H263R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856211" "0" "50" "22" "51117861" "51117861" "subst" "8.31304E-5" "01943" "SHANK3_000124" "g.51117861G>T" "" "" "" "SHANK3(NM_001372044.1):c.1112+5G>T, SHANK3(NM_033517.1):c.885+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856212" "0" "30" "22" "51153370" "51153370" "subst" "0.000102607" "01943" "SHANK3_000231" "g.51153370C>T" "" "" "" "SHANK3(NM_033517.1):c.2160C>T (p.A720=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856213" "0" "90" "22" "51159412" "51159412" "dup" "0" "02325" "SHANK3_000234" "g.51159412dup" "" "" "" "SHANK3(NM_001372044.2):c.3376dupC (p.R1126Pfs*245)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000856214" "0" "30" "22" "51159912" "51159912" "subst" "0.000328151" "01943" "SHANK3_000237" "g.51159912C>T" "" "" "" "SHANK3(NM_033517.1):c.3651C>T (p.N1217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856215" "0" "90" "22" "51159940" "51159940" "dup" "0" "01943" "SHANK3_000083" "g.51159940dup" "" "" "" "SHANK3(NM_001372044.1):c.3863_3864insG (p.H1288Qfs*83), SHANK3(NM_001372044.2):c.3904dupG (p.A1302Gfs*69), SHANK3(NM_033517.1):c.3634_3635insG (p....)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000856216" "0" "30" "22" "51160154" "51160154" "subst" "0.000685" "01943" "SHANK3_000087" "g.51160154G>A" "" "" "" "SHANK3(NM_001372044.2):c.4118G>A (p.R1373K), SHANK3(NM_033517.1):c.3893G>A (p.R1298K, p.(Arg1298Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866920" "0" "10" "22" "51121773" "51121773" "subst" "0.00372051" "01804" "SHANK3_000134" "g.51121773C>T" "" "" "" "SHANK3(NM_001372044.2):c.1188+651C>T, SHANK3(NM_033517.1):c.891C>T (p.S297=, p.(Ser297=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866921" "0" "30" "22" "51123008" "51123008" "subst" "0.00104362" "01804" "SHANK3_000229" "g.51123008C>T" "" "" "" "SHANK3(NM_033517.1):c.964-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866922" "0" "90" "22" "51133241" "51133241" "subst" "0" "02327" "SHANK3_000230" "g.51133241C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000866923" "0" "30" "22" "51142280" "51142280" "subst" "0.00595117" "01804" "SHANK3_000140" "g.51142280C>T" "" "" "" "SHANK3(NM_001372044.2):c.1799-8C>T (p.(=)), SHANK3(NM_001372044.2):c.1838-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866924" "0" "30" "22" "51158885" "51158885" "subst" "0" "01804" "SHANK3_000232" "g.51158885C>T" "" "" "" "SHANK3(NM_033517.1):c.2624C>T (p.(Ala875Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866925" "0" "30" "22" "51159583" "51159583" "subst" "6.3732E-5" "01804" "SHANK3_000235" "g.51159583C>T" "" "" "" "SHANK3(NM_033517.1):c.3322C>T (p.(Leu1108=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866926" "0" "30" "22" "51159595" "51159595" "subst" "0.00360743" "01943" "SHANK3_000236" "g.51159595C>T" "" "" "" "SHANK3(NM_001372044.2):c.3559C>T (p.(Leu1187=)), SHANK3(NM_033517.1):c.3334C>T (p.L1112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866927" "0" "70" "22" "51160126" "51160133" "del" "0" "01804" "SHANK3_000238" "g.51160126_51160133del" "" "" "" "SHANK3(NM_033517.1):c.3827_3834del (p.(Gln1289Valfs*4))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000866928" "0" "50" "22" "51169151" "51169151" "subst" "0" "01804" "SHANK3_000239" "g.51169151T>G" "" "" "" "SHANK3(NM_033517.1):c.4570T>G (p.(Leu1536Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000868106" "0" "70" "22" "51159006" "51159006" "del" "0" "01164" "SHANK3_000233" "g.51159006del" "" "" "" "NM_001372044.2:c.2970del" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "0" "" "" "g.50720578del" "" "likely pathogenic (dominant)" "ACMG" "0000895827" "0" "50" "22" "51143261" "51143261" "subst" "4.08687E-6" "02325" "SHANK3_000240" "g.51143261G>A" "" "" "" "SHANK3(NM_001372044.2):c.2092G>A (p.G698R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895828" "0" "90" "22" "51153435" "51153435" "dup" "0" "02325" "SHANK3_000241" "g.51153435dup" "" "" "" "SHANK3(NM_001372044.2):c.2450dupA (p.R818Efs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000895829" "0" "50" "22" "51160412" "51160412" "subst" "4.62637E-6" "02329" "SHANK3_000242" "g.51160412C>T" "" "" "" "SHANK3(NM_033517.1):c.4151C>T (p.T1384I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915574" "0" "10" "22" "51117733" "51117733" "subst" "0.000907972" "02330" "SHANK3_000216" "g.51117733C>G" "" "" "" "SHANK3(NM_001372044.2):c.994-7C>G, SHANK3(NM_033517.1):c.769-7C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000918912" "0" "70" "22" "51160027" "51160027" "dup" "0" "01164" "SHANK3_000243" "g.51160027dup" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "0" "" "" "g.50721596dup" "VCV000817701.1" "likely pathogenic (dominant)" "ACMG" "0000919628" "0" "90" "22" "51159940" "51159940" "dup" "0" "01164" "SHANK3_000083" "g.51159940dup" "" "PMID: 32050889, 33256793, 21565394, 21606927, 23100419, 25356970, 17173049, 29719671, 30763456, 34737294, 33619735" "" "NM_001372044.2:c.3904dup" "ACMG: PVS1, PS2, PS4, PM2_SUP" "Germline" "?" "" "0" "" "" "g.50721512dup" "VCV000208759.25" "pathogenic (dominant)" "ACMG" "0000921527" "0" "90" "22" "51159685" "51159686" "del" "0" "03544" "SHANK3_000245" "g.51159685_51159686del" "" "" "" "" "" "De novo" "" "rs1555910143" "0" "" "" "g.50721257_50721258del" "" "pathogenic (dominant)" "ACMG" "0000921528" "0" "90" "22" "51153476" "51153476" "subst" "0" "03544" "SHANK3_000059" "g.51153476G>A" "" "" "" "" "" "De novo" "" "rs1396379503" "0" "" "" "g.50715048G>A" "" "pathogenic (dominant)" "ACMG" "0000921529" "0" "90" "22" "51169198" "51169202" "dup" "0" "03544" "SHANK3_000244" "g.51169198_51169202dup" "" "" "" "" "" "De novo" "" "rs1603447373" "0" "" "" "g.50730770_50730774dup" "" "pathogenic (dominant)" "ACMG" "0000927229" "0" "10" "22" "51160074" "51160074" "subst" "0.000409239" "02330" "SHANK3_000246" "g.51160074C>T" "" "" "" "SHANK3(NM_001372044.2):c.4038C>T (p.G1346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000927230" "0" "90" "22" "51160440" "51160443" "del" "0" "02329" "SHANK3_000247" "g.51160440_51160443del" "" "" "" "SHANK3(NM_001372044.2):c.4404_4407delTGAC (p.D1469Pfs*33)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000931320" "0" "50" "22" "51142650" "51142650" "subst" "0" "02327" "SHANK3_000248" "g.51142650T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000939771" "0" "90" "22" "51160594" "51160594" "subst" "0" "00006" "SHANK3_000249" "g.51160594C>T" "" "{PMID:Thevenon 2016:26757139}, {PMID:Nambot 2018:29095811}" "" "NM_001080420.1:c.4381C>T" "" "De novo" "" "" "0" "" "" "g.50722166C>T" "" "likely pathogenic (dominant)" "" "0000939786" "0" "70" "22" "50731158" "50731160" "del" "0" "00006" "SHANK3_000250" "g.50731158_50731160del" "" "{PMID:Nambot 2018:29095811}" "" "NM_001080420.1:c.5090_5092del" "" "De novo" "" "" "0" "" "" "g.51169586_51169588del" "" "likely pathogenic (dominant)" "" "0000951642" "0" "50" "22" "51133347" "51133347" "subst" "0" "02325" "SHANK3_000251" "g.51133347C>T" "" "" "" "SHANK3(NM_001372044.2):c.1400C>T (p.S467L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951643" "0" "70" "22" "51154182" "51154182" "subst" "0" "02326" "SHANK3_000252" "g.51154182G>A" "" "" "" "SHANK3(NM_001372044.1):c.2542+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000951644" "0" "50" "22" "51159170" "51159170" "subst" "0" "02325" "SHANK3_000253" "g.51159170C>T" "" "" "" "SHANK3(NM_001372044.2):c.3134C>T (p.A1045V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951645" "0" "10" "22" "51160154" "51160154" "subst" "0.000685" "02330" "SHANK3_000087" "g.51160154G>A" "" "" "" "SHANK3(NM_001372044.2):c.4118G>A (p.R1373K), SHANK3(NM_033517.1):c.3893G>A (p.R1298K, p.(Arg1298Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000970553" "0" "90" "22" "51159604" "51159604" "subst" "0" "02329" "SHANK3_000156" "g.51159604C>T" "" "" "" "SHANK3(NM_001372044.2):c.3568C>T (p.R1190*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000970554" "0" "90" "22" "51159760" "51159830" "del" "0" "02325" "SHANK3_000257" "g.51159760_51159830del" "" "" "" "SHANK3(NM_001372044.2):c.3724_3794del (p.A1242Qfs*105)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000970556" "0" "50" "22" "51169687" "51169687" "subst" "0" "02325" "SHANK3_000258" "g.51169687G>A" "" "" "" "SHANK3(NM_001372044.2):c.5368G>A (p.V1790M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984328" "0" "50" "22" "51113005" "51113005" "subst" "0" "01804" "SHANK3_000259" "g.51113005G>A" "" "" "" "SHANK3(NM_001372044.2):c.163G>A (p.(Ala55Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984329" "0" "70" "22" "51117858" "51117858" "subst" "0" "01804" "SHANK3_000260" "g.51117858T>G" "" "" "" "SHANK3(NM_001372044.2):c.1110+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000984330" "0" "30" "22" "51133246" "51133246" "subst" "0.00140197" "01804" "SHANK3_000036" "g.51133246G>A" "" "" "" "SHANK3(NM_001372044.2):c.1299G>A (p.(Leu433Leu)), SHANK3(NM_033517.1):c.1074G>A (p.L358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984331" "0" "30" "22" "51133417" "51133417" "subst" "0.00136809" "01804" "SHANK3_000137" "g.51133417C>T" "" "" "" "SHANK3(NM_001372044.2):c.1470C>T (p.(Ala490Ala)), SHANK3(NM_033517.1):c.1245C>T (p.A415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984332" "0" "30" "22" "51143267" "51143267" "subst" "3.67704E-5" "01804" "SHANK3_000261" "g.51143267C>T" "" "" "" "SHANK3(NM_001372044.2):c.2098C>T (p.(Arg700Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984333" "0" "30" "22" "51153455" "51153455" "subst" "0" "01804" "SHANK3_000262" "g.51153455A>G" "" "" "" "SHANK3(NM_001372044.2):c.2470A>G (p.(Ile824Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984334" "0" "70" "22" "51154147" "51154147" "del" "0" "02329" "SHANK3_000263" "g.51154147del" "" "" "" "SHANK3(NM_001372044.2):c.2541delC (p.L848Cfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000984335" "0" "30" "22" "51158701" "51158701" "subst" "0" "01804" "SHANK3_000264" "g.51158701C>T" "" "" "" "SHANK3(NM_001372044.2):c.2665C>T (p.(Pro889Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984336" "0" "30" "22" "51159595" "51159595" "subst" "0.00360743" "01804" "SHANK3_000236" "g.51159595C>T" "" "" "" "SHANK3(NM_001372044.2):c.3559C>T (p.(Leu1187=)), SHANK3(NM_033517.1):c.3334C>T (p.L1112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984337" "0" "50" "22" "51160301" "51160301" "subst" "6.56814E-6" "01804" "SHANK3_000265" "g.51160301C>G" "" "" "" "SHANK3(NM_001372044.2):c.4226C>G (p.(Pro1409Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984338" "0" "50" "22" "51169249" "51169249" "subst" "0" "01804" "SHANK3_000266" "g.51169249T>C" "" "" "" "SHANK3(NM_001372044.2):c.4930T>C (p.(Tyr1644His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000987857" "0" "90" "22" "51159940" "51159940" "del" "0" "03544" "SHANK3_000267" "g.51159940del" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.50721512del" "" "pathogenic" "ACMG" "0000989530" "3" "50" "22" "0" "0" "" "" "03566" "LARGE_000000" "g.?" "" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "" "NM_001372044.2:c.1305-3_1,305-2delTT p.?" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" "" "0001006262" "0" "30" "22" "51113521" "51113521" "subst" "0" "01804" "SHANK3_000268" "g.51113521C>A" "" "" "" "SHANK3(NM_033517.1):c.109C>A (p.(Gln37Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006263" "0" "50" "22" "51115113" "51115113" "subst" "0" "01804" "SHANK3_000269" "g.51115113C>T" "" "" "" "SHANK3(NM_033517.1):c.331C>T (p.(His111Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006264" "0" "30" "22" "51158933" "51158933" "subst" "0" "01804" "SHANK3_000270" "g.51158933C>T" "" "" "" "SHANK3(NM_033517.1):c.2672C>T (p.(Ala891Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006265" "0" "30" "22" "51159424" "51159424" "subst" "0" "01804" "SHANK3_000271" "g.51159424G>A" "" "" "" "SHANK3(NM_033517.1):c.3163G>A (p.(Ala1055Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006266" "0" "30" "22" "51159488" "51159488" "subst" "0" "01804" "SHANK3_000155" "g.51159488C>G" "" "" "" "SHANK3(NM_033517.1):c.3227C>G (p.A1076G, p.(Thr1076Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006267" "0" "30" "22" "51159677" "51159677" "subst" "0" "01804" "SHANK3_000272" "g.51159677C>T" "" "" "" "SHANK3(NM_033517.1):c.3416C>T (p.(Ala1139Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006268" "0" "50" "22" "51160499" "51160499" "subst" "0" "01804" "SHANK3_000273" "g.51160499C>T" "" "" "" "SHANK3(NM_033517.1):c.4238C>T (p.(Thr1413Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006269" "0" "70" "22" "51169558" "51169558" "subst" "0" "02327" "SHANK3_000274" "g.51169558G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001006270" "0" "50" "22" "51169601" "51169601" "subst" "0" "02329" "SHANK3_000275" "g.51169601G>A" "" "" "" "SHANK3(NM_001372044.2):c.5282G>A (p.R1761H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007545" "0" "70" "22" "51133331" "51133331" "subst" "8.86407E-6" "00006" "SHANK3_000277" "g.51133331G>A" "" "{PMID:Mansoorshahi 2024:39226896}" "" "NM_001372044.2:c.1384G>A" "" "Germline" "" "rs924786980" "0" "" "" "g.50694903G>A" "" "VUS" "" "0001007549" "0" "70" "22" "51113524" "51113524" "subst" "0" "00006" "SHANK3_000276" "g.51113524C>T" "" "{PMID:Mansoorshahi 2024:39226896}" "" "NM_001372044.2:c.337C>T" "" "Germline" "" "rs2082909083" "0" "" "" "g.50675096C>T" "" "VUS" "" "0001015962" "0" "70" "22" "51115065" "51115065" "subst" "0" "02327" "SHANK3_000278" "g.51115065C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001020086" "0" "70" "22" "51160025" "51160037" "del" "0" "03544" "SHANK3_000084" "g.51160025_51160037del" "" "" "" "" "" "Germline" "yes" "rs886041238" "0" "" "" "g.50721597_50721609del" "{CV:279892}" "likely pathogenic" "ACMG" "0001029815" "0" "70" "22" "51169376" "51169376" "subst" "0" "03544" "SHANK3_000279" "g.51169376C>A" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.50730948C>A" "" "likely pathogenic" "ACMG" "0001043969" "0" "50" "22" "51112876" "51112881" "del" "0" "01804" "SHANK3_000280" "g.51112876_51112881del" "" "" "" "SHANK3(NM_001372044.2):c.34_39del (p.(Ala12_Ala13del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043970" "0" "50" "22" "51112921" "51112922" "ins" "0" "01804" "SHANK3_000281" "g.51112921_51112922insA" "" "" "" "SHANK3(NM_001372044.2):c.79_80insA (p.(Pro27Hisfs*119))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043971" "0" "50" "22" "51113597" "51113597" "subst" "0" "01804" "SHANK3_000282" "g.51113597G>A" "" "" "" "SHANK3(NM_001372044.2):c.410G>A (p.(Gly137Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043972" "0" "50" "22" "51133302" "51133302" "subst" "0" "01804" "SHANK3_000283" "g.51133302T>A" "" "" "" "SHANK3(NM_001372044.2):c.1355T>A (p.(Ile452Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043973" "0" "50" "22" "51142610" "51142610" "subst" "0" "01804" "SHANK3_000284" "g.51142610G>T" "" "" "" "SHANK3(NM_001372044.2):c.1891G>T (p.(Asp631Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043974" "0" "30" "22" "51153401" "51153401" "subst" "7.15504E-5" "01804" "SHANK3_000285" "g.51153401G>A" "" "" "" "SHANK3(NM_001372044.2):c.2416G>A (p.(Ala806Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043975" "0" "70" "22" "51154103" "51154106" "del" "0" "02326" "SHANK3_000178" "g.51154103_51154106del" "" "" "" "SHANK3(NM_001372044.1):c.2461_2464delTTGT (p.S821Gfs*37)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001043976" "0" "30" "22" "51154151" "51154151" "subst" "4.11039E-6" "01804" "SHANK3_000286" "g.51154151C>T" "" "" "" "SHANK3(NM_001372044.2):c.2506C>T (p.(Arg836Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043977" "0" "50" "22" "51159056" "51159056" "subst" "0" "01804" "SHANK3_000287" "g.51159056C>T" "" "" "" "SHANK3(NM_001372044.2):c.3020C>T (p.(Ala1007Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043978" "0" "50" "22" "51159375" "51159375" "subst" "4.77395E-6" "01804" "SHANK3_000288" "g.51159375C>A" "" "" "" "SHANK3(NM_001372044.2):c.3339C>A (p.(Ser1113Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043979" "0" "50" "22" "51159376" "51159376" "subst" "0" "01804" "SHANK3_000289" "g.51159376G>A" "" "" "" "SHANK3(NM_001372044.2):c.3301G>A (p.(Ala1101Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043980" "0" "30" "22" "51159667" "51159667" "subst" "3.48778E-5" "01804" "SHANK3_000079" "g.51159667G>A" "" "" "" "SHANK3(NM_001372044.1):c.3598G>A (p.A1200T), SHANK3(NM_001372044.2):c.3631G>A (p.(Ala1211Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043981" "0" "90" "22" "51160168" "51160168" "subst" "0" "02327" "SHANK3_000290" "g.51160168C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001043982" "0" "50" "22" "51160715" "51160715" "subst" "0" "01804" "SHANK3_000291" "g.51160715G>C" "" "" "" "SHANK3(NM_001372044.2):c.4679G>C (p.(Gly1560Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SHANK3 ## Count = 332 "{{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}}" "0000000905" "00023933" "50" "1302" "44" "1302" "44" "c.1302+44G>A" "r.(?)" "p.(=)" "10i" "0000035983" "00023933" "55" "898" "0" "898" "0" "c.898C>T" "r.(?)" "p.(Arg300Cys)" "8" "0000046778" "00023933" "70" "886" "-283" "23122" "0" "c.886-283_*17963del" "r.?" "p.?" "7i_22_" "0000046853" "00023933" "90" "601" "-1" "601" "-1" "c.601-1G>A" "r.(601_668del)" "p.(Thr201Argfs*11)" "5i" "0000079353" "00023933" "90" "-3930126" "0" "502205" "0" "c.-3930126_*497046del" "r.0?" "p.0?" "" "0000079631" "00023933" "90" "1613" "-206" "19159" "0" "c.1613-206_*14000del" "r.?" "p.?" "12i_22_" "0000129057" "00023933" "30" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Ala162Thr)" "5" "0000129235" "00023933" "50" "3032" "0" "3032" "0" "c.3032G>T" "r.(?)" "p.(Gly1011Val)" "21" "0000129236" "00023933" "50" "3067" "0" "3067" "0" "c.3067C>T" "r.(?)" "p.(Arg1023Trp)" "21" "0000129237" "00023933" "50" "3179" "0" "3179" "0" "c.3179C>G" "r.(?)" "p.(Thr1060Ser)" "21" "0000129238" "00023933" "50" "3568" "0" "3568" "0" "c.3568G>A" "r.(?)" "p.(Asp1190Asn)" "21" "0000129239" "00023933" "50" "3764" "0" "3764" "0" "c.3764G>A" "r.(?)" "p.(Arg1255Gln)" "21" "0000129240" "00023933" "50" "4385" "0" "4385" "0" "c.4385G>T" "r.(?)" "p.(Arg1462Leu)" "21" "0000129241" "00023933" "50" "4954" "0" "4954" "0" "c.4954G>A" "r.(?)" "p.(Gly1652Ser)" "22" "0000129242" "00023933" "50" "4960" "0" "4960" "0" "c.4960C>A" "r.(?)" "p.(Pro1654Thr)" "22" "0000129243" "00023933" "50" "5186" "0" "5186" "0" "c.*27C>T" "r.(?)" "p.(=)" "22" "0000252655" "00023933" "50" "2712" "0" "2712" "0" "c.2712A>C" "r.(?)" "p.(=)" "" "0000255072" "00023933" "30" "855" "0" "855" "0" "c.855A>G" "r.(?)" "p.(=)" "" "0000255080" "00023933" "30" "954" "0" "954" "0" "c.954A>C" "r.(?)" "p.(=)" "" "0000256295" "00023933" "50" "358" "0" "358" "0" "c.358A>G" "r.(?)" "p.(Met120Val)" "" "0000298193" "00023933" "10" "1573" "18" "1573" "18" "c.1573+18T>C" "r.(=)" "p.(=)" "" "0000298195" "00023933" "10" "448" "16" "448" "16" "c.448+16G>A" "r.(=)" "p.(=)" "" "0000298196" "00023933" "50" "4923" "0" "4923" "0" "c.4923del" "r.(?)" "p.(Gly1642Alafs*28)" "" "0000298197" "00023933" "10" "734" "0" "734" "0" "c.734T>C" "r.(?)" "p.(Ile245Thr)" "" "0000299471" "00023933" "90" "3725" "0" "3737" "0" "c.3725_3737del" "r.(?)" "p.(Arg1242Leufs*25)" "" "0000302106" "00023933" "30" "3367" "0" "3367" "0" "c.3367G>A" "r.(?)" "p.(Ala1123Thr)" "" "0000302107" "00023933" "90" "3856" "0" "3856" "0" "c.3856G>T" "r.(?)" "p.(Glu1286*)" "" "0000308054" "00023933" "30" "1074" "0" "1074" "0" "c.1074G>A" "r.(?)" "p.(=)" "" "0000308055" "00023933" "10" "2004" "0" "2004" "0" "c.2004C>G" "r.(?)" "p.(=)" "" "0000308056" "00023933" "90" "2226" "1" "2226" "1" "c.2226+1G>A" "r.spl?" "p.?" "" "0000308057" "00023933" "30" "2679" "0" "2679" "0" "c.2679T>A" "r.(?)" "p.(=)" "" "0000308058" "00023933" "30" "2869" "0" "2869" "0" "c.2869G>T" "r.(?)" "p.(Ala957Ser)" "" "0000308059" "00023933" "90" "3081" "0" "3081" "0" "c.3081del" "r.(?)" "p.(Gly1028Alafs*37)" "" "0000308060" "00023933" "30" "3174" "0" "3174" "0" "c.3174C>A" "r.(?)" "p.(=)" "" "0000308061" "00023933" "70" "3768" "0" "3772" "0" "c.3768_3772del" "r.(?)" "p.(Gly1258Leufs*23)" "" "0000308062" "00023933" "30" "3995" "0" "3995" "0" "c.3995C>T" "r.(?)" "p.(Pro1332Leu)" "" "0000308063" "00023933" "30" "795" "0" "795" "0" "c.795T>C" "r.(?)" "p.(=)" "" "0000308064" "00023933" "30" "816" "0" "816" "0" "c.816T>C" "r.(?)" "p.(=)" "" "0000308065" "00023933" "30" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Gly277Arg)" "" "0000308066" "00023933" "30" "831" "0" "831" "0" "c.831G>T" "r.(?)" "p.(=)" "" "0000308067" "00023933" "30" "840" "0" "840" "0" "c.840C>T" "r.(?)" "p.(=)" "" "0000308068" "00023933" "30" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(=)" "" "0000308069" "00023933" "30" "870" "0" "870" "0" "c.870T>C" "r.(?)" "p.(=)" "" "0000329141" "00023933" "30" "612" "0" "612" "0" "c.612C>A" "r.(?)" "p.(Asp204Glu)" "" "0000329142" "00023933" "30" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Gly277Arg)" "" "0000329144" "00023933" "50" "885" "3" "885" "4" "c.885+3_885+4insAGTGCTGAG" "r.spl?" "p.?" "" "0000329145" "00023933" "50" "885" "5" "885" "6" "c.885+5_885+6insCATTTAAAGGAAATAATGTAT" "r.spl?" "p.?" "" "0000329146" "00023933" "50" "885" "5" "885" "6" "c.885+5_885+6insCATTTAAAGGAAATAATGTATAC" "r.spl?" "p.?" "" "0000329149" "00023933" "30" "885" "5" "885" "6" "c.885+5_885+6insCATTTAAAGGAAATAATGTATACAGTGGTCCATTTCCAAA" "r.spl?" "p.?" "" "0000329150" "00023933" "50" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Arg300His)" "" "0000329151" "00023933" "50" "1010" "0" "1010" "0" "c.1010C>T" "r.(?)" "p.(Thr337Ile)" "" "0000329152" "00023933" "50" "1237" "0" "1237" "0" "c.1237C>T" "r.(?)" "p.(Arg413Trp)" "" "0000329153" "00023933" "30" "1303" "-9" "1303" "-6" "c.1303-9_1303-6del" "r.(=)" "p.(=)" "" "0000329154" "00023933" "50" "1303" "-8" "1303" "-5" "c.1303-8_1303-5del" "r.spl?" "p.?" "" "0000329155" "00023933" "30" "1303" "-5" "1303" "-5" "c.1303-5T>C" "r.spl?" "p.?" "" "0000329156" "00023933" "50" "1303" "-2" "1303" "-2" "c.1303-2A>G" "r.spl?" "p.?" "" "0000329157" "00023933" "50" "1303" "-1" "1303" "-1" "c.1303-1G>C" "r.spl?" "p.?" "" "0000329158" "00023933" "30" "1303" "-1" "1303" "0" "c.1303-1_1303insGCCCCGGCCCCGCGCCCGGC" "r.spl?" "p.?" "" "0000329160" "00023933" "30" "1307" "1" "1308" "-1" "c.1307+1_1308-1del" "r.spl?" "p.?" "" "0000329162" "00023933" "50" "1459" "21" "1459" "30" "c.1459+21_1459+30del" "r.(=)" "p.(=)" "" "0000329165" "00023933" "50" "1511" "0" "1511" "0" "c.1511C>T" "r.(?)" "p.(Thr504Met)" "" "0000329166" "00023933" "50" "1758" "0" "1758" "0" "c.1758G>A" "r.(?)" "p.(=)" "" "0000329167" "00023933" "30" "1764" "0" "1764" "0" "c.1764G>A" "r.(?)" "p.(=)" "" "0000329168" "00023933" "30" "1920" "0" "1920" "0" "c.1920T>C" "r.(?)" "p.(=)" "" "0000329172" "00023933" "50" "2128" "0" "2128" "0" "c.2128G>C" "r.(?)" "p.(Glu710Gln)" "" "0000329173" "00023933" "50" "2136" "0" "2136" "0" "c.2136G>A" "r.(?)" "p.(=)" "" "0000329174" "00023933" "50" "2172" "0" "2172" "0" "c.2172C>T" "r.(?)" "p.(=)" "" "0000329175" "00023933" "50" "2201" "0" "2201" "0" "c.2201G>A" "r.(?)" "p.(Arg734Gln)" "" "0000329176" "00023933" "90" "2226" "1" "2226" "1" "c.2226+1G>A" "r.spl?" "p.?" "" "0000329177" "00023933" "30" "2271" "0" "2271" "0" "c.2271G>A" "r.(?)" "p.(=)" "" "0000329178" "00023933" "50" "2273" "0" "2273" "0" "c.2273G>C" "r.(?)" "p.(Gly758Ala)" "" "0000329179" "00023933" "50" "2556" "0" "2556" "0" "c.2556G>A" "r.(?)" "p.(=)" "" "0000329180" "00023933" "50" "2654" "0" "2654" "0" "c.2654C>T" "r.(?)" "p.(Ser885Leu)" "" "0000329181" "00023933" "50" "2850" "0" "2850" "0" "c.2850G>C" "r.(?)" "p.(=)" "" "0000329182" "00023933" "50" "2869" "0" "2869" "0" "c.2869G>T" "r.(?)" "p.(Ala957Ser)" "" "0000329184" "00023933" "50" "2933" "0" "2933" "0" "c.2933G>C" "r.(?)" "p.(Gly978Ala)" "" "0000329186" "00023933" "50" "2934" "0" "2934" "0" "c.2934T>C" "r.(?)" "p.(=)" "" "0000329187" "00023933" "30" "2993" "0" "2993" "0" "c.2993G>T" "r.(?)" "p.(Gly998Val)" "" "0000329189" "00023933" "50" "3290" "0" "3292" "0" "c.3290_3292del" "r.(?)" "p.(Leu1097_Ala1098delinsPro)" "" "0000329191" "00023933" "30" "3498" "0" "3498" "0" "c.3498G>A" "r.(?)" "p.(=)" "" "0000329192" "00023933" "50" "3577" "0" "3577" "0" "c.3577C>T" "r.(?)" "p.(Pro1193Ser)" "" "0000329193" "00023933" "50" "3600" "0" "3600" "0" "c.3600C>T" "r.(?)" "p.(=)" "" "0000329194" "00023933" "50" "3640" "0" "3640" "0" "c.3640dup" "r.(?)" "p.(Ala1214Glyfs*69)" "" "0000329196" "00023933" "30" "3854" "0" "3854" "0" "c.3854G>A" "r.(?)" "p.(Arg1285Lys)" "" "0000329198" "00023933" "50" "3995" "0" "3995" "0" "c.3995C>T" "r.(?)" "p.(Pro1332Leu)" "" "0000329200" "00023933" "50" "4113" "0" "4113" "0" "c.4113C>T" "r.(?)" "p.(=)" "" "0000329201" "00023933" "50" "4209" "0" "4209" "0" "c.4209C>A" "r.(?)" "p.(=)" "" "0000329202" "00023933" "50" "4233" "0" "4233" "0" "c.4233G>A" "r.(?)" "p.(=)" "" "0000329205" "00023933" "50" "4484" "0" "4484" "0" "c.4484del" "r.(?)" "p.(Thr1495Serfs*36)" "" "0000329206" "00023933" "50" "4908" "0" "4908" "0" "c.4908C>T" "r.(?)" "p.(=)" "" "0000329207" "00023933" "50" "4921" "0" "4921" "0" "c.4921C>A" "r.(?)" "p.(Pro1641Thr)" "" "0000341142" "00023933" "90" "3640" "0" "3640" "0" "c.3640dup" "r.(?)" "p.(Ala1214Glyfs*69)" "" "0000341986" "00023933" "50" "4564" "0" "4564" "0" "c.4564C>T" "r.(?)" "p.(Arg1522Trp)" "" "0000342058" "00023933" "50" "5018" "0" "5018" "0" "c.5018G>C" "r.(?)" "p.(Arg1673Pro)" "" "0000342113" "00023933" "50" "542" "0" "542" "0" "c.542G>A" "r.(?)" "p.(Arg181His)" "" "0000344534" "00023933" "90" "3826" "0" "3826" "0" "c.3826C>T" "r.(?)" "p.(Gln1276*)" "" "0000348652" "00023933" "90" "3174" "0" "3174" "0" "c.3174del" "r.(?)" "p.(Ser1059Profs*6)" "" "0000350284" "00023933" "90" "4026" "0" "4027" "0" "c.4026_4027del" "r.(?)" "p.(Val1344Glyfs*4)" "" "0000350758" "00023933" "50" "268" "-2" "268" "-2" "c.268-2A>T" "r.spl?" "p.?" "" "0000351272" "00023933" "90" "449" "-2" "449" "-2" "c.449-2A>G" "r.spl?" "p.?" "" "0000351273" "00023933" "90" "2226" "1" "2226" "1" "c.2226+1G>A" "r.spl?" "p.?" "" "0000368959" "00023933" "90" "3093" "0" "3103" "0" "c.3093_3103del" "r.(?)" "p.(Ala1033Glnfs*258)" "" "0000379121" "00023933" "90" "3630" "0" "3630" "0" "c.(3630dup)" "r.(3630dup)" "p.(Val1211Argfs*85)" "21" "0000458923" "00023933" "50" "950" "0" "950" "0" "c.950A>G" "r.(?)" "p.(Gln317Arg)" "" "0000572454" "00023933" "30" "366" "0" "366" "0" "c.366C>T" "r.(?)" "p.(=)" "" "0000572455" "00023933" "10" "448" "16" "448" "16" "c.448+16G>A" "r.(=)" "p.(=)" "" "0000572456" "00023933" "30" "471" "0" "471" "0" "c.471C>T" "r.(?)" "p.(=)" "" "0000572458" "00023933" "30" "646" "0" "646" "0" "c.646G>A" "r.(?)" "p.(Gly216Ser)" "" "0000572459" "00023933" "10" "734" "0" "734" "0" "c.734T>C" "r.(?)" "p.(Ile245Thr)" "" "0000572462" "00023933" "30" "885" "5" "885" "5" "c.885+5G>T" "r.spl?" "p.?" "" "0000572470" "00023933" "30" "886" "-8" "886" "-8" "c.886-8C>T" "r.(=)" "p.(=)" "" "0000572472" "00023933" "10" "891" "0" "891" "0" "c.891C>T" "r.(?)" "p.(=)" "" "0000572473" "00023933" "30" "963" "8" "963" "8" "c.963+8G>A" "r.(=)" "p.(=)" "" "0000572474" "00023933" "30" "1030" "13" "1030" "13" "c.1030+13C>T" "r.(=)" "p.(=)" "" "0000572475" "00023933" "30" "1245" "0" "1245" "0" "c.1245C>T" "r.(?)" "p.(=)" "" "0000572477" "00023933" "50" "1304" "0" "1308" "0" "c.1304_1308del" "r.?" "p.?" "" "0000572478" "00023933" "10" "1573" "18" "1573" "18" "c.1573+18T>C" "r.(=)" "p.(=)" "" "0000572479" "00023933" "10" "1574" "-8" "1574" "-8" "c.1574-8C>T" "r.(=)" "p.(=)" "" "0000572480" "00023933" "10" "1649" "18" "1649" "18" "c.1649+18G>A" "r.(=)" "p.(=)" "" "0000572481" "00023933" "10" "1732" "16" "1732" "16" "c.1732+16T>A" "r.(=)" "p.(=)" "" "0000572482" "00023933" "10" "1764" "0" "1764" "0" "c.1764G>A" "r.(?)" "p.(=)" "" "0000572483" "00023933" "10" "1857" "19" "1857" "19" "c.1857+19G>C" "r.(=)" "p.(=)" "" "0000572484" "00023933" "30" "2071" "10" "2071" "10" "c.2071+10G>A" "r.(=)" "p.(=)" "" "0000572485" "00023933" "30" "2122" "0" "2122" "0" "c.2122G>A" "r.(?)" "p.(Ala708Thr)" "" "0000572486" "00023933" "90" "2226" "1" "2226" "1" "c.2226+1G>A" "r.spl?" "p.?" "" "0000572488" "00023933" "70" "2314" "0" "2314" "0" "c.2314dup" "r.(?)" "p.(=)" "" "0000572490" "00023933" "50" "2410" "0" "2410" "0" "c.2410C>A" "r.(?)" "p.(Pro804Thr)" "" "0000572491" "00023933" "30" "2439" "0" "2439" "0" "c.2439G>A" "r.(?)" "p.(=)" "" "0000572493" "00023933" "30" "2535" "0" "2535" "0" "c.2535C>T" "r.(?)" "p.(=)" "" "0000572494" "00023933" "30" "2556" "0" "2556" "0" "c.2556G>A" "r.(?)" "p.(=)" "" "0000572497" "00023933" "30" "2850" "0" "2850" "0" "c.2850G>C" "r.(?)" "p.(=)" "" "0000572498" "00023933" "30" "2850" "0" "2850" "0" "c.2850G>C" "r.(?)" "p.(=)" "" "0000572499" "00023933" "10" "2958" "0" "2958" "0" "c.2958C>T" "r.(?)" "p.(=)" "" "0000572500" "00023933" "10" "2958" "0" "2958" "0" "c.2958C>T" "r.(?)" "p.(=)" "" "0000572502" "00023933" "50" "3188" "0" "3188" "0" "c.3188C>G" "r.(?)" "p.(Ala1063Gly)" "" "0000572503" "00023933" "90" "3304" "0" "3304" "0" "c.3304C>T" "r.(?)" "p.(Arg1102*)" "" "0000572504" "00023933" "50" "3520" "0" "3520" "0" "c.3520T>A" "r.(?)" "p.(Ser1174Thr)" "" "0000572505" "00023933" "10" "3840" "0" "3840" "0" "c.3840C>T" "r.(?)" "p.(=)" "" "0000572506" "00023933" "30" "3840" "0" "3840" "0" "c.3840C>T" "r.(?)" "p.(=)" "" "0000572507" "00023933" "90" "3868" "0" "3868" "0" "c.3868del" "r.(?)" "p.(Arg1290Glufs*83)" "" "0000572510" "00023933" "30" "4228" "0" "4228" "0" "c.4228G>T" "r.(?)" "p.(Gly1410Trp)" "" "0000572511" "00023933" "30" "4238" "0" "4238" "0" "c.4238C>T" "r.(?)" "p.(Pro1413Leu)" "" "0000572513" "00023933" "70" "4628" "0" "4628" "0" "c.4628del" "r.(?)" "p.(Gly1543Alafs*8)" "" "0000572514" "00023933" "30" "4761" "0" "4761" "0" "c.4761C>T" "r.(?)" "p.(=)" "" "0000572515" "00023933" "30" "4851" "0" "4851" "0" "c.4851G>T" "r.(?)" "p.(=)" "" "0000572516" "00023933" "30" "4921" "0" "4921" "0" "c.4921C>A" "r.(?)" "p.(Pro1641Thr)" "" "0000572517" "00023933" "50" "5036" "0" "5036" "0" "c.5036A>G" "r.(?)" "p.(His1679Arg)" "" "0000572518" "00023933" "30" "5148" "0" "5148" "0" "c.5148C>T" "r.(?)" "p.(=)" "" "0000572519" "00023933" "30" "5148" "0" "5148" "0" "c.5148C>T" "r.(?)" "p.(=)" "" "0000604193" "00023933" "70" "3218" "0" "3218" "0" "c.3218del" "r.(?)" "p.(Pro1073Argfs*5)" "" "0000618664" "00023933" "30" "249" "0" "249" "0" "c.249G>T" "r.(?)" "p.(=)" "" "0000618665" "00023933" "50" "600" "1" "600" "1" "c.600+1G>A" "r.spl?" "p.?" "" "0000618666" "00023933" "30" "891" "0" "891" "0" "c.891C>T" "r.(?)" "p.(=)" "" "0000618667" "00023933" "50" "1303" "-3" "1303" "-2" "c.1303-3_1303-2insC" "r.spl?" "p.?" "" "0000618668" "00023933" "50" "1315" "0" "1315" "0" "c.1315C>G" "r.(?)" "p.(Pro439Ala)" "" "0000618669" "00023933" "30" "2095" "10" "2095" "10" "c.2095+10C>T" "r.(=)" "p.(=)" "" "0000618670" "00023933" "90" "2233" "0" "2236" "0" "c.2233_2236del" "r.(?)" "p.(Phe745Asnfs*25)" "" "0000618671" "00023933" "30" "2850" "0" "2850" "0" "c.2850G>C" "r.(?)" "p.(=)" "" "0000618672" "00023933" "30" "2993" "0" "2993" "0" "c.2993G>T" "r.(?)" "p.(Gly998Val)" "" "0000618673" "00023933" "90" "3103" "0" "3103" "0" "c.3103C>T" "r.(?)" "p.(Gln1035*)" "" "0000618674" "00023933" "70" "3256" "0" "3281" "0" "c.3256_3281del" "r.(?)" "p.(Gly1086Profs*188)" "" "0000618675" "00023933" "10" "3324" "0" "3324" "0" "c.3324C>T" "r.(?)" "p.(=)" "" "0000618676" "00023933" "70" "3357" "0" "3358" "0" "c.3357_3358del" "r.(?)" "p.(His1119Glnfs*163)" "" "0000618677" "00023933" "30" "3552" "0" "3552" "0" "c.3552C>T" "r.(?)" "p.(=)" "" "0000618678" "00023933" "30" "3695" "0" "3695" "0" "c.3695C>T" "r.(?)" "p.(Ala1232Val)" "" "0000618679" "00023933" "70" "3713" "0" "3725" "0" "c.3713_3725del" "r.(?)" "p.(Leu1238Argfs*29)" "" "0000618680" "00023933" "30" "4548" "0" "4548" "0" "c.4548G>A" "r.(?)" "p.(=)" "" "0000624336" "00023933" "90" "1079" "0" "1079" "0" "c.1079dup" "r.(?)" "p.(Ser362Glnfs*51)" "" "0000624337" "00023933" "10" "1303" "-31" "1303" "-31" "c.1303-31G>A" "r.(=)" "p.(=)" "" "0000624338" "00023933" "10" "2122" "0" "2122" "0" "c.2122G>A" "r.(?)" "p.(Ala708Thr)" "" "0000624339" "00023933" "50" "2993" "0" "2993" "0" "c.2993G>T" "r.(?)" "p.(Gly998Val)" "" "0000631941" "00023933" "90" "3173" "0" "3188" "0" "c.3173_3188dup" "r.(?)" "p.(Ala1064Glyfs*237)" "" "0000651029" "00023933" "10" "2273" "0" "2273" "0" "c.2273G>A" "" "p.?" "" "0000651030" "00023933" "10" "3326" "0" "3326" "0" "c.3326C>T" "" "p.?" "" "0000651031" "00023933" "10" "4409" "0" "4409" "0" "c.4409G>A" "" "p.?" "" "0000658991" "00023933" "30" "340" "-15" "340" "-15" "c.340-15C>T" "r.(=)" "p.(=)" "" "0000658992" "00023933" "10" "1303" "-16" "1303" "-4" "c.1303-16_1303-4del" "r.spl?" "p.?" "" "0000658993" "00023933" "10" "1303" "-3" "1303" "-2" "c.1303-3_1303-2insC" "r.spl?" "p.?" "" "0000658994" "00023933" "10" "1304" "0" "1308" "0" "c.1304_1308del" "r.?" "p.?" "" "0000658995" "00023933" "30" "1459" "21" "1459" "30" "c.1459+21_1459+30del" "r.(=)" "p.(=)" "" "0000658996" "00023933" "30" "1854" "0" "1854" "0" "c.1854C>T" "r.(?)" "p.(=)" "" "0000658997" "00023933" "10" "2004" "0" "2004" "0" "c.2004C>G" "r.(?)" "p.(=)" "" "0000658999" "00023933" "10" "3653" "0" "3653" "0" "c.3653G>A" "r.(?)" "p.(Arg1218His)" "" "0000659000" "00023933" "90" "3826" "0" "3826" "0" "c.3826C>T" "r.(?)" "p.(Gln1276*)" "" "0000659001" "00023933" "10" "4565" "12" "4565" "12" "c.4565+12G>A" "r.(=)" "p.(=)" "" "0000659002" "00023933" "10" "4908" "0" "4908" "0" "c.4908C>T" "r.(?)" "p.(=)" "" "0000660577" "00023933" "90" "2870" "0" "2885" "0" "c.2870_2885dup" "r.(?)" "p.(Asp962Glufs*339)" "" "0000660694" "00023933" "70" "3176" "0" "3176" "0" "c.3176delC" "r.(?)" "p.(Pro1059fs)" "" "0000669731" "00023933" "10" "3326" "0" "3326" "0" "c.3326C>T" "" "p.?" "" "0000681947" "00023933" "30" "768" "14" "768" "14" "c.768+14C>T" "r.(=)" "p.(=)" "" "0000681948" "00023933" "30" "1030" "12" "1030" "12" "c.1030+12C>T" "r.(=)" "p.(=)" "" "0000681949" "00023933" "70" "1303" "-289" "1303" "-289" "c.1303-289del" "r.(=)" "p.(=)" "" "0000681950" "00023933" "30" "2394" "0" "2394" "0" "c.2394C>G" "r.(?)" "p.(=)" "" "0000681951" "00023933" "50" "2938" "0" "2938" "0" "c.2938C>A" "r.(?)" "p.(Arg980Ser)" "" "0000681952" "00023933" "70" "3351" "0" "3351" "0" "c.3351del" "r.(?)" "p.(Val1118Cysfs*64)" "" "0000681953" "00023933" "70" "3352" "0" "3352" "0" "c.3352G>T" "r.(?)" "p.(Val1118Leu)" "" "0000681954" "00023933" "30" "4224" "0" "4224" "0" "c.4224G>A" "r.(?)" "p.(=)" "" "0000681955" "00023933" "30" "4257" "0" "4257" "0" "c.4257G>A" "r.(?)" "p.(=)" "" "0000681956" "00023933" "50" "4550" "0" "4550" "0" "c.4550C>T" "r.(?)" "p.(Pro1517Leu)" "" "0000693226" "00023933" "30" "1459" "16" "1459" "16" "c.1459+16G>A" "r.(=)" "p.(=)" "" "0000693227" "00023933" "10" "2271" "0" "2271" "0" "c.2271G>A" "r.(?)" "p.(=)" "" "0000693228" "00023933" "10" "2556" "0" "2556" "0" "c.2556G>A" "r.(?)" "p.(=)" "" "0000693229" "00023933" "30" "3639" "0" "3639" "0" "c.3639G>T" "r.(?)" "p.(=)" "" "0000704171" "00023933" "90" "3727" "0" "3739" "0" "c.3727_3739del" "r.(?)" "p.(Gln1243Trpfs*37)" "" "0000728235" "00023933" "50" "343" "0" "343" "0" "c.343A>T" "r.(?)" "p.(Asn115Tyr)" "" "0000728236" "00023933" "30" "1010" "0" "1010" "0" "c.1010C>T" "r.(?)" "p.(Thr337Ile)" "" "0000728237" "00023933" "90" "1079" "0" "1079" "0" "c.1079dup" "r.(?)" "p.(Ser362Glnfs*51)" "" "0000728238" "00023933" "90" "2226" "1" "2226" "1" "c.2226+1G>C" "r.spl?" "p.?" "" "0000728239" "00023933" "90" "3013" "0" "3014" "0" "c.3013_3014insCGCC" "r.(?)" "p.(Arg1005Profs*279)" "" "0000728240" "00023933" "30" "3352" "0" "3352" "0" "c.3352G>C" "r.(?)" "p.(Val1118Leu)" "" "0000728241" "00023933" "90" "3729" "0" "3741" "0" "c.3729_3741del" "r.(?)" "p.(Gln1244Alafs*23)" "" "0000728242" "00023933" "30" "3840" "0" "3840" "0" "c.3840C>T" "r.(?)" "p.(=)" "" "0000728243" "00023933" "30" "3995" "0" "3995" "0" "c.3995C>T" "r.(?)" "p.(Pro1332Leu)" "" "0000728244" "00023933" "90" "4709" "0" "4709" "0" "c.4709C>A" "r.(?)" "p.(Ser1570*)" "" "0000763599" "00023933" "90" "3679" "0" "3679" "0" "c.3679dup" "r.(?)" "p.(Ala1227fs)" "" "0000788897" "00023933" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000788917" "00023933" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000809687" "00023933" "30" "483" "0" "483" "0" "c.483C>T" "r.(?)" "p.(=)" "" "0000809688" "00023933" "30" "769" "-7" "769" "-7" "c.769-7C>G" "r.(=)" "p.(=)" "" "0000809689" "00023933" "70" "908" "0" "908" "0" "c.908T>C" "r.(?)" "p.(Leu303Pro)" "" "0000809690" "00023933" "30" "941" "0" "941" "0" "c.941A>G" "r.(?)" "p.(Tyr314Cys)" "" "0000809691" "00023933" "30" "963" "7" "963" "7" "c.963+7C>T" "r.(=)" "p.(=)" "" "0000809692" "00023933" "30" "1288" "0" "1288" "0" "c.1288G>A" "r.(?)" "p.(Gly430Ser)" "" "0000809693" "00023933" "30" "2125" "0" "2125" "0" "c.2125G>A" "r.(?)" "p.(Ala709Thr)" "" "0000809694" "00023933" "30" "2281" "0" "2281" "0" "c.2281C>A" "r.(?)" "p.(=)" "" "0000809695" "00023933" "30" "2767" "0" "2767" "0" "c.2767G>A" "r.(?)" "p.(Ala923Thr)" "" "0000809696" "00023933" "30" "3546" "0" "3546" "0" "c.3546C>T" "r.(?)" "p.(=)" "" "0000809697" "00023933" "90" "3640" "0" "3640" "0" "c.3640dup" "r.(?)" "p.(Ala1214Glyfs*69)" "" "0000809698" "00023933" "90" "3640" "0" "3640" "0" "c.3640dup" "r.(?)" "p.(Ala1214Glyfs*69)" "" "0000809699" "00023933" "30" "3695" "0" "3695" "0" "c.3695C>T" "r.(?)" "p.(Ala1232Val)" "" "0000809700" "00023933" "30" "4913" "0" "4913" "0" "c.4913C>T" "r.(?)" "p.(Pro1638Leu)" "" "0000817863" "00023933" "50" "4394" "0" "4394" "0" "c.4394T>C" "r.(?)" "p.(Val1465Ala)" "" "0000829321" "00023933" "70" "3187" "0" "3188" "0" "c.3187_3188insGCTCTCCCCGA" "r.(?)" "p.(Thr1063Serfs*94)" "" "0000836777" "00023933" "70" "3642" "0" "3642" "0" "c.3642dup" "r.(?)" "p.(Thr1215HisfsTer81)" "" "0000846476" "00023933" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Thr1063SerfsTer19)" "" "0000856210" "00025964" "50" "788" "0" "788" "0" "c.788A>G" "r.(?)" "p.(His263Arg)" "" "0000856210" "00023933" "50" "563" "0" "563" "0" "c.563A>G" "r.(?)" "p.(His188Arg)" "" "0000856211" "00023933" "50" "885" "5" "885" "5" "c.885+5G>T" "r.spl?" "p.?" "" "0000856212" "00025964" "30" "2385" "0" "2385" "0" "c.2385C>T" "r.(?)" "p.(Ala795=)" "" "0000856212" "00023933" "30" "2121" "0" "2121" "0" "c.2121C>T" "r.(?)" "p.(=)" "" "0000856213" "00025964" "90" "3376" "0" "3376" "0" "c.3376dup" "r.(?)" "p.(Arg1126Profs*245)" "" "0000856213" "00023933" "90" "3112" "0" "3112" "0" "c.3112dup" "r.(?)" "p.(Arg1038Profs*245)" "" "0000856214" "00025964" "30" "3876" "0" "3876" "0" "c.3876C>T" "r.(?)" "p.(Asn1292=)" "" "0000856214" "00023933" "30" "3612" "0" "3612" "0" "c.3612C>T" "r.(?)" "p.(=)" "" "0000856215" "00023933" "90" "3640" "0" "3640" "0" "c.3640dup" "r.(?)" "p.(Ala1214Glyfs*69)" "" "0000856216" "00023933" "30" "3854" "0" "3854" "0" "c.3854G>A" "r.(?)" "p.(Arg1285Lys)" "" "0000866920" "00023933" "10" "891" "0" "891" "0" "c.891C>T" "r.(?)" "p.(=)" "" "0000866921" "00025964" "30" "1189" "-5" "1189" "-5" "c.1189-5C>T" "r.spl?" "p.?" "" "0000866921" "00023933" "30" "964" "-5" "964" "-5" "c.964-5C>T" "r.spl?" "p.?" "" "0000866922" "00025964" "90" "1294" "0" "1294" "0" "c.1294C>T" "r.(?)" "p.(Arg432*)" "" "0000866922" "00023933" "90" "1069" "0" "1069" "0" "c.1069C>T" "r.(?)" "p.(Arg357*)" "" "0000866923" "00023933" "30" "1574" "-8" "1574" "-8" "c.1574-8C>T" "r.(=)" "p.(=)" "" "0000866924" "00025964" "30" "2849" "0" "2849" "0" "c.2849C>T" "r.(?)" "p.(Ala950Val)" "" "0000866924" "00023933" "30" "2585" "0" "2585" "0" "c.2585C>T" "r.(?)" "p.(Ala862Val)" "" "0000866925" "00025964" "30" "3547" "0" "3547" "0" "c.3547C>T" "r.(?)" "p.(Leu1183=)" "" "0000866925" "00023933" "30" "3283" "0" "3283" "0" "c.3283C>T" "r.(?)" "p.(=)" "" "0000866926" "00025964" "30" "3559" "0" "3559" "0" "c.3559C>T" "r.(?)" "p.(Leu1187=)" "" "0000866926" "00023933" "30" "3295" "0" "3295" "0" "c.3295C>T" "r.(?)" "p.(=)" "" "0000866927" "00025964" "70" "4090" "0" "4097" "0" "c.4090_4097del" "r.(?)" "p.(Gln1364Valfs*4)" "" "0000866927" "00023933" "70" "3826" "0" "3833" "0" "c.3826_3833del" "r.(?)" "p.(Gln1276Valfs*4)" "" "0000866928" "00025964" "50" "4832" "0" "4832" "0" "c.4832T>G" "r.(?)" "p.(Leu1611Arg)" "" "0000866928" "00023933" "50" "4568" "0" "4568" "0" "c.4568T>G" "r.(?)" "p.(Leu1523Arg)" "" "0000868106" "00023933" "70" "2708" "0" "2708" "0" "c.2708del" "r.(?)" "p.(Glu903SerfsTer40)" "" "0000895827" "00025964" "50" "2092" "0" "2092" "0" "c.2092G>A" "r.(?)" "p.(Gly698Arg)" "" "0000895827" "00023933" "50" "1828" "0" "1828" "0" "c.1828G>A" "r.(?)" "p.(Gly610Arg)" "" "0000895828" "00025964" "90" "2450" "0" "2450" "0" "c.2450dup" "r.(?)" "p.(Arg818Glufs*13)" "" "0000895828" "00023933" "90" "2186" "0" "2186" "0" "c.2186dup" "r.(?)" "p.(Arg730Glufs*13)" "" "0000895829" "00025964" "50" "4376" "0" "4376" "0" "c.4376C>T" "r.(?)" "p.(Thr1459Ile)" "" "0000895829" "00023933" "50" "4112" "0" "4112" "0" "c.4112C>T" "r.(?)" "p.(Thr1371Ile)" "" "0000915574" "00023933" "10" "769" "-7" "769" "-7" "c.769-7C>G" "r.(=)" "p.(=)" "" "0000918912" "00023933" "70" "3766" "0" "3766" "0" "c.3766dup" "r.(?)" "p.(Ala1256Glyfs*40)" "22" "0000919628" "00023933" "90" "3642" "0" "3642" "0" "c.3642dup" "r.(?)" "p.(Thr1215Hisfs*81)" "" "0000921527" "00023933" "90" "3387" "0" "3388" "0" "c.3387_3388del" "r.?" "p.?" "" "0000921528" "00023933" "90" "2228" "1" "2228" "1" "c.2228+1G>A" "r.spl" "p.?" "" "0000921529" "00023933" "90" "4617" "0" "4621" "0" "c.4617_4621dup" "r.(?)" "p.(Gly1541AlafsTer5)" "" "0000927229" "00025964" "10" "4038" "0" "4038" "0" "c.4038C>T" "r.(?)" "p.(Gly1346=)" "" "0000927229" "00023933" "10" "3774" "0" "3774" "0" "c.3774C>T" "r.(?)" "p.(=)" "" "0000927230" "00025964" "90" "4404" "0" "4407" "0" "c.4404_4407del" "r.(?)" "p.(Asp1469Profs*33)" "" "0000927230" "00023933" "90" "4140" "0" "4143" "0" "c.4140_4143del" "r.(?)" "p.(Asp1381Profs*33)" "" "0000931320" "00023933" "50" "1706" "0" "1706" "0" "c.1706T>C" "r.(?)" "p.(Phe569Ser)" "" "0000939771" "00023933" "90" "4333" "0" "4333" "0" "c.4333C>T" "r.(?)" "p.(Gln1445Ter)" "" "0000939786" "00023933" "70" "5042" "0" "5044" "0" "c.5042_5044del" "r.(?)" "p.(His1681del)" "22" "0000951642" "00023933" "50" "1175" "0" "1175" "0" "c.1175C>T" "r.(?)" "p.(Ser392Leu)" "" "0000951643" "00023933" "70" "2311" "1" "2311" "1" "c.2311+1G>A" "r.spl?" "p.?" "" "0000951644" "00023933" "50" "2870" "0" "2870" "0" "c.2870C>T" "r.(?)" "p.(Ala957Val)" "" "0000951645" "00023933" "10" "3854" "0" "3854" "0" "c.3854G>A" "r.(?)" "p.(Arg1285Lys)" "" "0000970553" "00023933" "90" "3304" "0" "3304" "0" "c.3304C>T" "r.(?)" "p.(Arg1102*)" "" "0000970554" "00023933" "90" "3460" "0" "3530" "0" "c.3460_3530del" "r.(?)" "p.(Ala1154Glnfs*105)" "" "0000970556" "00023933" "50" "5104" "0" "5104" "0" "c.5104G>A" "r.(?)" "p.(Val1702Met)" "" "0000984328" "00023933" "50" "-65" "0" "-65" "0" "c.-65G>A" "r.(?)" "p.(=)" "" "0000984329" "00023933" "70" "885" "2" "885" "2" "c.885+2T>G" "r.spl?" "p.?" "" "0000984330" "00023933" "30" "1074" "0" "1074" "0" "c.1074G>A" "r.(?)" "p.(=)" "" "0000984331" "00023933" "30" "1245" "0" "1245" "0" "c.1245C>T" "r.(?)" "p.(=)" "" "0000984332" "00023933" "30" "1834" "0" "1834" "0" "c.1834C>T" "r.(?)" "p.(Arg612Cys)" "" "0000984333" "00023933" "30" "2206" "0" "2206" "0" "c.2206A>G" "r.(?)" "p.(Ile736Val)" "" "0000984334" "00023933" "70" "2277" "0" "2277" "0" "c.2277del" "r.(?)" "p.(Leu760Cysfs*11)" "" "0000984335" "00023933" "30" "2401" "0" "2401" "0" "c.2401C>T" "r.(?)" "p.(Pro801Ser)" "" "0000984336" "00025964" "30" "3559" "0" "3559" "0" "c.3559C>T" "r.(?)" "p.(Leu1187=)" "" "0000984336" "00023933" "30" "3295" "0" "3295" "0" "c.3295C>T" "r.(?)" "p.(=)" "" "0000984337" "00023933" "50" "4001" "0" "4001" "0" "c.4001C>G" "r.(?)" "p.(Pro1334Arg)" "" "0000984338" "00023933" "50" "4666" "0" "4666" "0" "c.4666T>C" "r.(?)" "p.(Tyr1556His)" "" "0000987857" "00023933" "90" "3679" "0" "3679" "0" "c.3679del" "r.(?)" "p.(Ala1227ProfsTer57)" "21" "0000989530" "00023933" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0001006262" "00023933" "30" "109" "0" "109" "0" "c.109C>A" "r.(?)" "p.(Gln37Lys)" "" "0001006263" "00023933" "50" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(His111Tyr)" "" "0001006264" "00023933" "30" "2633" "0" "2633" "0" "c.2633C>T" "r.(?)" "p.(Ser878Phe)" "" "0001006265" "00023933" "30" "3124" "0" "3124" "0" "c.3124G>A" "r.(?)" "p.(Glu1042Lys)" "" "0001006266" "00023933" "30" "3188" "0" "3188" "0" "c.3188C>G" "r.(?)" "p.(Ala1063Gly)" "" "0001006267" "00023933" "30" "3377" "0" "3377" "0" "c.3377C>T" "r.(?)" "p.(Pro1126Leu)" "" "0001006268" "00023933" "50" "4199" "0" "4199" "0" "c.4199C>T" "r.(?)" "p.(Pro1400Leu)" "" "0001006269" "00023933" "70" "4975" "0" "4975" "0" "c.4975G>T" "r.(?)" "p.(Asp1659Tyr)" "" "0001006270" "00023933" "50" "5018" "0" "5018" "0" "c.5018G>A" "r.(?)" "p.(Arg1673His)" "" "0001007545" "00023933" "70" "1159" "0" "1159" "0" "c.1159G>A" "r.(?)" "p.(Ala387Thr)" "" "0001007549" "00023933" "70" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38Cys)" "" "0001015962" "00023933" "70" "283" "0" "283" "0" "c.283C>T" "r.(?)" "p.(Arg95*)" "" "0001020086" "00025964" "70" "3989" "0" "4001" "0" "c.3989_4001del" "r.(?)" "p.(Arg1330LeufsTer25)" "" "0001020086" "00023933" "70" "3764" "0" "3776" "0" "c.3764_3776del" "r.(?)" "p.(Arg1255LeufsTer25)" "" "0001029815" "00025964" "70" "5057" "0" "5057" "0" "c.5057C>A" "r.(5057C>A)" "p.(Ser1686Ter)" "25" "0001043969" "00023933" "50" "-194" "0" "-189" "0" "c.-194_-189del" "r.(?)" "p.(=)" "" "0001043970" "00023933" "50" "-149" "0" "-148" "0" "c.-149_-148insA" "r.(?)" "p.(=)" "" "0001043971" "00023933" "50" "185" "0" "185" "0" "c.185G>A" "r.(?)" "p.(Gly62Asp)" "" "0001043972" "00023933" "50" "1130" "0" "1130" "0" "c.1130T>A" "r.(?)" "p.(Ile377Asn)" "" "0001043973" "00023933" "50" "1666" "0" "1666" "0" "c.1666G>T" "r.(?)" "p.(Asp556Tyr)" "" "0001043974" "00023933" "30" "2152" "0" "2152" "0" "c.2152G>A" "r.(?)" "p.(Ala718Thr)" "" "0001043975" "00023933" "70" "2233" "0" "2236" "0" "c.2233_2236del" "r.(?)" "p.(Phe745Asnfs*25)" "" "0001043976" "00023933" "30" "2281" "0" "2281" "0" "c.2281C>T" "r.(?)" "p.(Arg761Trp)" "" "0001043977" "00023933" "50" "2756" "0" "2756" "0" "c.2756C>T" "r.(?)" "p.(Ala919Val)" "" "0001043978" "00023933" "50" "3075" "0" "3075" "0" "c.3075C>A" "r.(?)" "p.(Ser1025Arg)" "" "0001043979" "00023933" "50" "3076" "0" "3076" "0" "c.3076G>A" "r.(?)" "p.(Ala1026Thr)" "" "0001043980" "00023933" "30" "3367" "0" "3367" "0" "c.3367G>A" "r.(?)" "p.(Ala1123Thr)" "" "0001043981" "00023933" "90" "3868" "0" "3868" "0" "c.3868C>T" "r.(?)" "p.(Arg1290*)" "" "0001043982" "00023933" "50" "4415" "0" "4415" "0" "c.4415G>C" "r.(?)" "p.(Gly1472Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 49 "{{screeningid}}" "{{variantid}}" "0000000029" "0000000905" "0000016246" "0000035983" "0000024227" "0000046778" "0000024260" "0000046853" "0000050373" "0000079353" "0000050651" "0000079631" "0000080145" "0000129057" "0000080277" "0000129235" "0000080278" "0000129236" "0000080279" "0000129237" "0000080280" "0000129238" "0000080281" "0000129239" "0000080282" "0000129240" "0000080283" "0000129241" "0000080284" "0000129242" "0000080285" "0000129243" "0000165300" "0000368959" "0000168983" "0000379121" "0000226570" "0000458923" "0000270433" "0000604193" "0000277197" "0000631941" "0000294340" "0000651029" "0000294341" "0000651030" "0000294342" "0000651031" "0000297877" "0000660577" "0000297982" "0000660694" "0000306043" "0000669731" "0000321342" "0000704171" "0000363153" "0000763599" "0000376842" "0000788897" "0000376862" "0000788917" "0000389070" "0000817863" "0000397349" "0000829321" "0000402544" "0000836777" "0000409326" "0000846476" "0000410957" "0000868106" "0000433269" "0000918912" "0000433974" "0000919628" "0000435514" "0000921527" "0000435515" "0000921528" "0000435516" "0000921529" "0000441834" "0000939771" "0000441844" "0000939786" "0000453279" "0000987857" "0000454641" "0000989530" "0000455369" "0001007545" "0000455380" "0001007549" "0000461032" "0001020086" "0000466005" "0001029815"