### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SHANK2) # 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}}" "SHANK2" "SH3 and multiple ankyrin repeat domains 2" "11" "q13.2" "unknown" "NG_042866.1" "NC_000011.9" "" "https://www.LOVD.nl/SHANK2" "" "1" "14295" "22941" "603290" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/SHANK2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2010-06-25 00:00:00" "00006" "2017-09-14 08:48:18" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00025425" "SHANK2" "transcript variant 1" "003" "NM_012309.4" "" "NP_036441.2" "" "" "" "-112" "10416" "5403" "70935842" "70313961" "00001" "2019-07-17 13:51:58" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00841" "EIEE" "encephalopathy, epileptic, early infantile (EIEE)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-02-20 16:58:56" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03335" "AUTS17" "autism, susceptibility to, type 17 (AUTS-17)" "" "613436" "" "" "" "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" "06675" "NEDLBA" "Neurodevelopmental disorder and language delay with or without structural brain abnormalities" "AD" "618354" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SHANK2" "03335" ## Individuals ## Do not remove or alter this header ## ## Count = 34 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00121864" "" "" "" "1" "" "00115" "{PMID:Berkel 2010:20473310}" "" "M" "" "" "" "0" "" "" "Europe" "" "00121865" "" "" "" "1" "" "00115" "{PMID:Berkel 2010:20473310}" "" "M" "" "" "" "0" "" "" "Europe" "" "00121866" "" "" "" "1" "" "00115" "{PMID:Berkel 2010:20473310}" "" "M" "" "" "" "0" "" "" "Europe" "" "00121867" "" "" "" "1" "" "00115" "{PMID:Berkel 2010:20473310}" "" "M" "" "" "" "0" "" "" "Europe" "" "00121868" "" "" "" "1" "" "00115" "{PMID:Berkel 2010:20473310}" "" "M" "" "" "" "0" "" "" "Europe" "" "00121869" "" "" "" "1" "" "00115" "{PMID:Berkel 2010:20473310}" "" "F" "" "" "" "0" "" "" "Europe" "" "00121870" "" "" "" "1" "" "00115" "{PMID:Berkel 2010:20473310}" "" "M" "" "" "" "0" "" "" "Europe" "" "00121871" "" "" "" "1" "" "00115" "{PMID:Berkel 2010:20473310}" "" "M" "" "" "" "0" "" "" "Europe" "" "00121872" "" "" "" "1" "" "00115" "{PMID:Berkel 2010:20473310}" "" "M" "" "" "" "0" "" "" "Europe" "" "00121873" "" "" "" "1" "" "00115" "{PMID:Berkel 2010:20473310}" "" "M" "" "" "" "0" "" "" "Europe" "" "00121874" "" "" "" "1" "" "00115" "{PMID:Berkel 2010:20473310}" "" "M" "" "" "" "0" "" "" "Europe" "" "00121875" "" "" "" "1" "" "00115" "{PMID:Berkel 2010:20473310}" "" "M" "" "" "" "0" "" "" "Europe" "" "00121876" "" "" "" "1" "" "00115" "{PMID:Berkel 2010:20473310}" "" "F" "" "" "" "0" "" "" "Europe" "" "00121877" "" "" "" "1" "" "00115" "{PMID:Berkel 2010:20473310}" "" "F" "" "" "" "0" "" "" "Europe" "" "00121878" "" "" "" "1" "" "00115" "{PMID:Berkel 2010:20473310}" "" "F" "" "" "" "0" "" "" "Europe" "" "00121879" "" "" "" "1" "" "00115" "{PMID:Berkel 2010:20473310}" "" "F" "" "" "" "0" "" "" "Europe" "" "00121880" "" "" "" "1" "" "00115" "{PMID:Berkel 2010:20473310}" "" "M" "" "" "" "0" "" "" "Europe" "" "00121881" "" "" "" "1" "" "00115" "{PMID:Berkel 2010:20473310}" "" "M" "" "" "" "0" "" "" "Europe" "" "00121882" "" "" "" "1" "" "00115" "{PMID:Berkel 2010:20473310}" "" "F" "" "" "" "0" "" "" "Europe" "" "00121883" "" "" "" "1" "" "00115" "{PMID:Berkel 2010:20473310}" "" "M" "" "" "" "0" "" "" "Europe" "" "00121884" "" "" "" "1" "" "00115" "{PMID:Berkel 2010:20473310}" "" "F" "" "" "" "0" "" "" "Europe" "" "00121885" "" "" "" "1" "" "00115" "{PMID:Berkel 2010:20473310}" "" "F" "" "" "" "0" "" "" "Europe" "" "00121886" "" "" "" "1" "" "00115" "{PMID:Berkel 2010:20473310}" "" "F" "" "" "" "0" "" "" "Europe" "" "00121887" "" "" "" "1" "" "00115" "{PMID:Berkel 2010:20473310}" "" "F" "" "" "" "0" "" "" "Europe" "" "00164710" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00269884" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00301262" "" "" "" "1" "" "03512" "{PMID:Minardi 2020:32725632}" "" "M" "" "Italy" "" "" "" "" "" "" "00307776" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411435" "00401308" "" "" "" "1" "" "03128" "" "" "F" "no" "Italy" "" "" "" "" "" "" "00403860" "" "" "" "1" "" "00006" "{PMID:Froukh 2020:32056211}" "analysis 103 families with neurodevelopmental disorders" "" "" "Jordan" "" "0" "" "" "" "TF024" "00457919" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "" "" "00461050" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 34 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00121864" "00198" "00121865" "00198" "00121866" "00198" "00121867" "00198" "00121868" "00198" "00121869" "00198" "00121870" "00198" "00121871" "00198" "00121872" "00198" "00121873" "00198" "00121874" "00198" "00121875" "00198" "00121876" "00198" "00121877" "00198" "00121878" "00198" "00121879" "00198" "00121880" "00198" "00121881" "00198" "00121882" "00198" "00121883" "00198" "00121884" "00198" "00121885" "00198" "00121886" "00198" "00121887" "00198" "00164710" "00198" "00269884" "00198" "00301262" "00841" "00307776" "00139" "00401308" "06675" "00403860" "05611" "00457919" "05611" "00461050" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00841, 01157, 03335, 05611, 06675 ## Count = 31 "{{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/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "" "0000094174" "00198" "00121864" "00115" "Familial" "" "AD(H)D" "" "" "" "" "" "" "" "" "" "" "" "" "0000094175" "00198" "00121865" "00115" "Familial" "" "AD(H)D" "" "" "" "" "" "" "" "" "" "" "" "" "0000094176" "00198" "00121866" "00115" "Familial" "" "articulation difficulties" "" "" "" "" "" "" "" "" "" "" "" "" "0000094177" "00198" "00121867" "00115" "Isolated (sporadic)" "" "ASD" "" "" "" "" "" "" "" "" "" "" "" "" "0000094178" "00198" "00121868" "00115" "Familial" "" "ASD" "" "" "" "" "" "" "" "" "" "" "" "" "0000094179" "00198" "00121869" "00115" "Familial" "" "autism" "" "" "" "" "" "" "" "" "" "" "" "" "0000094180" "00198" "00121870" "00115" "Familial" "" "autism" "" "" "" "" "" "" "" "" "" "" "" "" "0000094181" "00198" "00121871" "00115" "Familial" "" "autism" "" "" "" "" "" "" "" "" "" "" "" "" "0000094182" "00198" "00121872" "00115" "Familial" "" "autism" "" "" "" "" "" "" "" "" "" "" "" "" "0000094183" "00198" "00121873" "00115" "Familial" "" "autism" "" "" "" "" "" "" "" "" "" "" "" "" "0000094184" "00198" "00121874" "00115" "Familial" "" "autism" "" "" "" "" "" "" "" "" "" "" "" "" "0000094185" "00198" "00121875" "00115" "Isolated (sporadic)" "" "autism" "" "" "" "" "" "" "" "" "" "" "" "" "0000094186" "00198" "00121876" "00115" "Isolated (sporadic)" "" "autism" "" "" "" "" "" "" "" "" "" "" "" "" "0000094187" "00198" "00121877" "00115" "Familial" "" "intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "0000094188" "00198" "00121878" "00115" "Familial" "" "intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "0000094189" "00198" "00121879" "00115" "Familial" "" "intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "0000094190" "00198" "00121880" "00115" "Familial" "" "speech delay" "" "" "" "" "" "" "" "" "" "" "" "" "0000094191" "00198" "00121881" "00115" "Familial" "" "not affected" "" "" "" "" "" "" "" "" "" "" "" "" "0000094192" "00198" "00121882" "00115" "Familial" "" "anxiety" "" "" "" "" "" "" "" "" "" "" "" "" "0000094193" "00198" "00121883" "00115" "Familial" "" "not affected" "" "" "" "" "" "" "" "" "" "" "" "" "0000094194" "00198" "00121884" "00115" "Familial" "" "not affected" "" "" "" "" "" "" "" "" "" "" "" "" "0000094195" "00198" "00121885" "00115" "Familial" "" "not affected" "" "" "" "" "" "" "" "" "" "" "" "" "0000094196" "00198" "00121886" "00115" "Familial" "" "spontaneous abortion" "" "" "" "" "" "" "" "" "" "" "" "" "0000094197" "00198" "00121887" "00115" "Familial" "" "anxiety, depression?, 2 miscarriages" "" "" "" "" "" "" "" "" "" "" "" "" "0000129749" "00198" "00164710" "01807" "Unknown" "" "HP:0001249 (Intellectual disability)" "" "" "" "" "" "" "" "" "" "" "" "" "0000207680" "00198" "00269884" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Microcephaly (HP:0000252); Inability to walk (HP:0002540); Stereotypical hand wringing (HP:0012171)" "" "" "" "" "" "" "" "" "" "" "" "" "0000228532" "00841" "00301262" "03512" "Unknown" "" "" "" "" "" "" "" "yes" "" "" "" "" "" "" "0000296540" "05611" "00403860" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000346369" "05611" "00457919" "03544" "Familial" "" "HP:0001256, HP:0000256, HP:0000098, HP:0000053, HP:0020222" "" "" "" "" "" "" "" "" "" "AUTS17" "complex neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 34 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000122332" "00121864" "1" "00115" "00115" "2010-07-22 11:56:06" "" "" "SEQ" "DNA" "" "" "0000122333" "00121865" "1" "00115" "00115" "2010-07-22 11:56:06" "" "" "SEQ" "DNA" "" "" "0000122334" "00121866" "1" "00115" "00115" "2010-07-22 11:56:06" "" "" "SEQ" "DNA" "" "" "0000122335" "00121867" "1" "00115" "00115" "2010-07-22 11:56:06" "" "" "SEQ" "DNA" "" "" "0000122336" "00121868" "1" "00115" "00115" "2010-07-22 11:56:06" "" "" "SEQ" "DNA" "" "" "0000122337" "00121869" "1" "00115" "00115" "2010-07-22 11:56:06" "" "" "SEQ" "DNA" "" "" "0000122338" "00121870" "1" "00115" "00115" "2010-07-22 11:56:06" "" "" "SEQ" "DNA" "" "" "0000122339" "00121871" "1" "00115" "00115" "2010-07-22 11:56:06" "" "" "SEQ" "DNA" "" "" "0000122340" "00121872" "1" "00115" "00115" "2010-07-22 11:56:06" "" "" "SEQ" "DNA" "" "" "0000122341" "00121873" "1" "00115" "00115" "2010-07-22 11:56:06" "" "" "SEQ" "DNA" "" "" "0000122342" "00121874" "1" "00115" "00115" "2010-07-22 11:56:06" "" "" "SEQ" "DNA" "" "" "0000122343" "00121875" "1" "00115" "00115" "2010-07-22 11:56:06" "" "" "SEQ" "DNA" "" "" "0000122344" "00121876" "1" "00115" "00115" "2010-07-22 11:56:06" "00006" "2017-09-14 10:59:21" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000122345" "00121877" "1" "00115" "00115" "2010-07-22 11:56:06" "" "" "SEQ" "DNA" "" "" "0000122346" "00121878" "1" "00115" "00115" "2010-07-22 11:56:06" "" "" "SEQ" "DNA" "" "" "0000122347" "00121879" "1" "00115" "00115" "2010-07-22 11:56:06" "" "" "SEQ" "DNA" "" "" "0000122348" "00121880" "1" "00115" "00115" "2010-07-22 11:56:06" "" "" "SEQ" "DNA" "" "" "0000122349" "00121881" "1" "00115" "00115" "2010-07-22 11:56:06" "" "" "SEQ" "DNA" "" "" "0000122350" "00121882" "1" "00115" "00115" "2010-07-22 11:56:06" "" "" "SEQ" "DNA" "" "" "0000122351" "00121883" "1" "00115" "00115" "2010-07-22 11:56:06" "" "" "SEQ" "DNA" "" "" "0000122352" "00121884" "1" "00115" "00115" "2010-07-22 11:56:06" "" "" "SEQ" "DNA" "" "" "0000122353" "00121885" "1" "00115" "00115" "2010-07-22 11:56:06" "" "" "SEQ" "DNA" "" "" "0000122354" "00121886" "1" "00115" "00115" "2010-07-22 11:56:06" "" "" "SEQ" "DNA" "" "" "0000122355" "00121887" "1" "00115" "00115" "2010-07-22 11:56:06" "" "" "SEQ" "DNA" "" "" "0000165577" "00164710" "1" "01807" "01807" "2018-06-05 19:08:56" "" "" "SEQ" "DNA" "" "" "0000271037" "00269884" "1" "01807" "01807" "2019-12-10 12:31:35" "" "" "SEQ" "DNA" "" "" "0000302386" "00301262" "1" "03512" "03512" "2020-05-11 20:49:39" "" "" "SEQ-NG-I" "DNA" "" "" "0000308916" "00307776" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000402552" "00401308" "1" "03128" "03128" "2022-01-31 12:46:57" "" "" "SEQ-NG-I" "DNA" "" "" "0000405098" "00403860" "1" "00006" "00006" "2022-02-24 16:43:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459539" "00457919" "1" "03544" "03544" "2024-11-21 12:27:34" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000462682" "00461050" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 27 "{{screeningid}}" "{{geneid}}" "0000122332" "SHANK2" "0000122333" "SHANK2" "0000122334" "SHANK2" "0000122335" "SHANK2" "0000122336" "SHANK2" "0000122337" "SHANK2" "0000122338" "SHANK2" "0000122339" "SHANK2" "0000122340" "SHANK2" "0000122341" "SHANK2" "0000122342" "SHANK2" "0000122343" "SHANK2" "0000122344" "SHANK2" "0000122345" "SHANK2" "0000122346" "SHANK2" "0000122347" "SHANK2" "0000122348" "SHANK2" "0000122349" "SHANK2" "0000122350" "SHANK2" "0000122351" "SHANK2" "0000122352" "SHANK2" "0000122353" "SHANK2" "0000122354" "SHANK2" "0000122355" "SHANK2" "0000308916" "SHANK2" "0000402552" "SHANK2" "0000462682" "SHANK2" ## 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 = 139 "{{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}}" "0000005024" "0" "50" "11" "70642820" "70642820" "subst" "0" "00037" "SHANK2_000011" "g.70642820T>G" "" "" "" "NM_012309.3:c.1631+1728A>C" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "" "" "" "" "" "VUS" "" "0000012969" "3" "50" "11" "70642820" "70642820" "subst" "0" "00037" "SHANK2_000011" "g.70642820T>G" "" "" "" "NM_012309.3:c.1631+1728A>C" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "" "" "" "" "" "VUS" "" "0000211224" "11" "70" "11" "0" "0" "subst" "0" "00115" "SHANK2_000002" "g.?" "" "{PMID:Berkel 2010:20473310}" "" "C76T, R26W AB208026.1" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000211225" "21" "70" "11" "0" "0" "subst" "0" "00115" "SHANK2_000003" "g.?" "" "{PMID:Berkel 2010:20473310}" "" "C622T, P208S AB208026.1" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000211226" "21" "70" "11" "0" "0" "dup" "0" "00115" "SHANK2_000005" "g.?" "" "{PMID:Berkel 2010:20473310}" "" "3024_3029dup, L1008_P1009dup AB208026.1" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000211227" "1" "70" "11" "0" "0" "subst" "0" "00115" "SHANK2_000001" "g.?" "" "{PMID:Berkel 2010:20473310}" "" "C1384T, R462X AB208026.1" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000211228" "21" "70" "11" "0" "0" "dup" "0" "00115" "SHANK2_000005" "g.?" "" "{PMID:Berkel 2010:20473310}" "" "3024_3029dup, L1008_P1009dup AB208026.1" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000211229" "11" "70" "11" "0" "0" "subst" "0" "00115" "SHANK2_000002" "g.?" "" "{PMID:Berkel 2010:20473310}" "" "C76T, R26W AB208026.1" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000211230" "21" "70" "11" "0" "0" "subst" "0" "00115" "SHANK2_000003" "g.?" "" "{PMID:Berkel 2010:20473310}" "" "C622T, P208S AB208026.1" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000211231" "21" "70" "11" "0" "0" "subst" "0" "00115" "SHANK2_000003" "g.?" "" "{PMID:Berkel 2010:20473310}" "" "C622T, P208S AB208026.1" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000211232" "21" "70" "11" "0" "0" "subst" "0" "00115" "SHANK2_000007" "g.?" "" "{PMID:Berkel 2010:20473310}" "" "C3380T, T1127M AB208026.1" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000211233" "21" "70" "11" "0" "0" "subst" "0" "00115" "SHANK2_000008" "g.?" "" "{PMID:Berkel 2010:20473310}" "" "G4048A, A1350T AB208026.1" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000211234" "21" "70" "11" "0" "0" "subst" "0" "00115" "SHANK2_000008" "g.?" "" "{PMID:Berkel 2010:20473310}" "" "G4048A, A1350T AB208026.1" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000211235" "0" "90" "11" "70803467" "70821096" "" "0" "00115" "SHANK2_000009" "g.(70785658_70803467)_(70821096_70824338)del" "" "{PMID:Berkel 2010:20473310}" "" "del exons6/7 AB208026.1" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000211236" "0" "90" "11" "70803467" "70805735" "" "0" "00115" "SHANK2_000010" "g.(70785658_70803467)_(70805735_70820986)del" "" "{PMID:Berkel 2010:20473310}" "" "del exon7 AB208026.1" "analysed fibroblast RNA" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000211237" "1" "70" "11" "0" "0" "subst" "0" "00115" "SHANK2_000003" "g.?" "" "{PMID:Berkel 2010:20473310}" "" "C622T, P208S AB208026.1" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000211238" "1" "70" "11" "0" "0" "subst" "0" "00115" "SHANK2_000004" "g.?" "" "{PMID:Berkel 2010:20473310}" "" "C692A, S231Y AB208026.1" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000211239" "11" "70" "11" "0" "0" "subst" "0" "00115" "SHANK2_000006" "g.?" "" "{PMID:Berkel 2010:20473310}" "" "C3142T, R1048W AB208026.1" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000211240" "21" "70" "11" "0" "0" "subst" "0" "00115" "SHANK2_000008" "g.?" "" "{PMID:Berkel 2010:20473310}" "" "G4048A, A1350T AB208026.1" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000211241" "1" "50" "11" "0" "0" "subst" "0" "00115" "SHANK2_000002" "g.?" "" "{PMID:Berkel 2010:20473310}" "" "C76T, R26W AB208026.1" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000211242" "1" "50" "11" "0" "0" "subst" "0" "00115" "SHANK2_000003" "g.?" "" "{PMID:Berkel 2010:20473310}" "" "C622T, P208S AB208026.1" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000211243" "1" "50" "11" "0" "0" "subst" "0" "00115" "SHANK2_000004" "g.?" "" "{PMID:Berkel 2010:20473310}" "" "C692A, S231Y AB208026.1" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000211244" "1" "50" "11" "0" "0" "dup" "0" "00115" "SHANK2_000005" "g.?" "" "{PMID:Berkel 2010:20473310}" "" "3024_3029dup, L1008_P1009dup AB208026.1" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000211245" "1" "50" "11" "0" "0" "subst" "0" "00115" "SHANK2_000006" "g.?" "" "{PMID:Berkel 2010:20473310}" "" "C3142T, R1048W AB208026.1" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000211246" "1" "50" "11" "0" "0" "subst" "0" "00115" "SHANK2_000007" "g.?" "" "{PMID:Berkel 2010:20473310}" "" "C3380T, T1127M AB208026.1" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000211247" "1" "50" "11" "0" "0" "subst" "0" "00115" "SHANK2_000008" "g.?" "" "{PMID:Berkel 2010:20473310}" "" "G4048A, A1350T AB208026.1" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000248125" "0" "30" "11" "70319533" "70319533" "subst" "0.00398592" "02325" "SHANK2_000013" "g.70319533A>G" "" "" "" "SHANK2(NM_133266.3):c.3227T>C (p.I1076T), SHANK2(NM_133266.5):c.3227T>C (p.I1076T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70473428A>G" "" "likely benign" "" "0000254115" "0" "30" "11" "70319533" "70319533" "subst" "0.00398592" "01943" "SHANK2_000013" "g.70319533A>G" "" "" "" "SHANK2(NM_133266.3):c.3227T>C (p.I1076T), SHANK2(NM_133266.5):c.3227T>C (p.I1076T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70473428A>G" "" "likely benign" "" "0000298191" "0" "30" "11" "70331576" "70331576" "subst" "0.000129987" "02325" "SHANK2_000014" "g.70331576C>T" "" "" "" "SHANK2(NM_012309.4):c.4822G>A (p.V1608I), SHANK2(NM_012309.5):c.4822G>A (p.V1608I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70468303C>T" "" "likely benign" "" "0000298192" "0" "30" "11" "70336479" "70336479" "subst" "0.00467009" "02325" "SHANK2_000021" "g.70336479C>T" "" "" "" "SHANK2(NM_012309.3):c.2307G>A (p.(=)), SHANK2(NM_133266.3):c.689G>A (p.R230H), SHANK2(NM_133266.5):c.689G>A (p.R230H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70489345C>T" "" "likely benign" "" "0000308044" "0" "30" "11" "70666745" "70666745" "subst" "7.40851E-6" "01943" "SHANK2_000034" "g.70666745C>G" "" "" "" "SHANK2(NM_012309.4):c.1217G>C (p.R406P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70807144C>G" "" "likely benign" "" "0000308045" "0" "50" "11" "70666531" "70666531" "subst" "0" "01943" "SHANK2_000032" "g.70666531C>T" "" "" "" "SHANK2(NM_012309.4):c.1431G>A (p.S477=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70807023G>T" "" "VUS" "" "0000308046" "0" "30" "11" "70644655" "70644655" "subst" "0.00318463" "01943" "SHANK2_000028" "g.70644655C>T" "" "" "" "SHANK2(NM_012309.4):c.1670G>A (p.S557N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70698762=" "" "likely benign" "" "0000308047" "0" "50" "11" "70830059" "70830059" "subst" "0.000178751" "01943" "SHANK2_000039" "g.70830059G>A" "" "" "" "SHANK2(NM_012309.3):c.227C>T (p.(Pro76Leu)), SHANK2(NM_012309.4):c.227C>T (p.P76L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71119013G>A" "" "VUS" "" "0000308048" "0" "30" "11" "70829968" "70829968" "subst" "9.91355E-5" "01943" "SHANK2_000038" "g.70829968C>T" "" "" "" "SHANK2(NM_012309.4):c.318G>A (p.P106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71118922C>T" "" "likely benign" "" "0000308049" "0" "30" "11" "70332312" "70332312" "subst" "2.84435E-5" "01943" "SHANK2_000017" "g.70332312G>A" "" "" "" "SHANK2(NM_012309.4):c.4086C>T (p.S1362=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70470123G>A" "" "likely benign" "" "0000308050" "0" "30" "11" "70332126" "70332126" "subst" "0.000690395" "01943" "SHANK2_000016" "g.70332126G>A" "" "" "" "SHANK2(NM_012309.4):c.4272C>T (p.P1424=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70469615G>A" "" "likely benign" "" "0000308051" "0" "30" "11" "70331576" "70331576" "subst" "0.000129987" "01943" "SHANK2_000014" "g.70331576C>T" "" "" "" "SHANK2(NM_012309.4):c.4822G>A (p.V1608I), SHANK2(NM_012309.5):c.4822G>A (p.V1608I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70468303C>T" "" "likely benign" "" "0000308052" "0" "30" "11" "70858322" "70858322" "subst" "0.000775091" "01943" "SHANK2_000040" "g.70858322G>A" "" "" "" "SHANK2(NM_012309.4):c.51C>T (p.S17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71147276G>A" "" "likely benign" "" "0000308053" "0" "10" "11" "70336479" "70336479" "subst" "0.00467009" "01943" "SHANK2_000021" "g.70336479C>T" "" "" "" "SHANK2(NM_012309.3):c.2307G>A (p.(=)), SHANK2(NM_133266.3):c.689G>A (p.R230H), SHANK2(NM_133266.5):c.689G>A (p.R230H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70489345C>T" "" "benign" "" "0000322380" "0" "50" "11" "70319439" "70319439" "subst" "0" "01804" "SHANK2_000012" "g.70319439G>A" "" "" "" "SHANK2(NM_012309.3):c.4939C>T (p.(Arg1647Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70473334G>A" "" "VUS" "" "0000322382" "0" "50" "11" "70331959" "70331959" "subst" "9.34245E-5" "01804" "SHANK2_000015" "g.70331959G>T" "" "" "" "SHANK2(NM_012309.3):c.4293C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70469225G>T" "" "VUS" "" "0000322383" "0" "50" "11" "70332394" "70332394" "subst" "0" "01804" "SHANK2_000018" "g.70332394G>T" "" "" "" "SHANK2(NM_012309.3):c.3858C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70470387G>T" "" "VUS" "" "0000322384" "0" "50" "11" "70332809" "70332809" "subst" "4.13462E-6" "01804" "SHANK2_000019" "g.70332809C>T" "" "" "" "SHANK2(NM_012309.3):c.3443G>A (p.(Gly1197Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70471484C>T" "" "VUS" "" "0000322385" "0" "50" "11" "70333817" "70333818" "del" "0" "01804" "SHANK2_000020" "g.70333817_70333818del" "" "" "" "SHANK2(NM_012309.3):c.2436_2437del (p.(Gly813LysfsTer?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70473413_70473420del" "" "VUS" "" "0000322387" "0" "50" "11" "70336479" "70336479" "subst" "0.00467009" "01804" "SHANK2_000021" "g.70336479C>T" "" "" "" "SHANK2(NM_012309.3):c.2307G>A (p.(=)), SHANK2(NM_133266.3):c.689G>A (p.R230H), SHANK2(NM_133266.5):c.689G>A (p.R230H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70489345C>T" "" "VUS" "" "0000322388" "0" "50" "11" "70338541" "70338541" "subst" "0.000826002" "01804" "SHANK2_000022" "g.70338541T>G" "" "" "" "SHANK2(NM_012309.3):c.2192A>C (p.(Lys780Gln)), SHANK2(NM_133266.3):c.574A>C (p.K192Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70490371T>G" "" "VUS" "" "0000322390" "0" "50" "11" "70506024" "70506024" "subst" "3.24886E-5" "01804" "SHANK2_000024" "g.70506024G>A" "" "" "" "SHANK2(NM_012309.3):c.1824C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70502898T>A" "" "VUS" "" "0000322391" "0" "50" "11" "70507855" "70507855" "subst" "1.21889E-5" "01804" "SHANK2_000025" "g.70507855G>A" "" "" "" "SHANK2(NM_012309.3):c.1708-72C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70660024=" "" "VUS" "" "0000322392" "0" "50" "11" "70644585" "70644585" "subst" "6.66782E-6" "01804" "SHANK2_000026" "g.70644585C>G" "" "" "" "SHANK2(NM_012309.3):c.1594G>C (p.(Gly532Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70698717C>G" "" "VUS" "" "0000322393" "0" "50" "11" "70644587" "70644587" "subst" "0" "01804" "SHANK2_000027" "g.70644587C>T" "" "" "" "SHANK2(NM_012309.3):c.1592G>A (p.(Arg531His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70698719C>T" "" "VUS" "" "0000322394" "0" "50" "11" "70644669" "70644669" "subst" "0.000113303" "01804" "SHANK2_000029" "g.70644669C>A" "" "" "" "SHANK2(NM_012309.3):c.1518-8G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70698770=" "" "VUS" "" "0000322395" "0" "50" "11" "70666470" "70666470" "subst" "4.4835E-5" "01804" "SHANK2_000030" "g.70666470C>T" "" "" "" "SHANK2(NM_012309.3):c.1346G>A (p.(Arg449Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70807003=" "" "VUS" "" "0000322396" "0" "30" "11" "70666485" "70666485" "subst" "9.20234E-6" "01804" "SHANK2_000031" "g.70666485G>C" "" "" "" "SHANK2(NM_012309.3):c.1331C>G (p.(Ala444Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70806994A>C" "" "likely benign" "" "0000322397" "0" "50" "11" "70666591" "70666591" "subst" "0.000280154" "01804" "SHANK2_000033" "g.70666591G>A" "" "" "" "SHANK2(NM_012309.3):c.1225C>T (p.(Arg409Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70807048G>A" "" "VUS" "" "0000322398" "0" "50" "11" "70666746" "70666746" "subst" "5.20965E-5" "01804" "SHANK2_000035" "g.70666746G>A" "" "" "" "SHANK2(NM_012309.3):c.1070C>T (p.(Arg406Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70807145T>A" "" "VUS" "" "0000322399" "0" "50" "11" "70666771" "70666771" "subst" "4.16126E-5" "01804" "SHANK2_000036" "g.70666771G>A" "" "" "" "SHANK2(NM_012309.3):c.1045C>T (p.(Pro349Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70807159=" "" "VUS" "" "0000322400" "0" "50" "11" "70805692" "70805692" "subst" "0" "01804" "SHANK2_000037" "g.70805692T>C" "" "" "" "SHANK2(NM_012309.3):c.635A>G (p.(Glu212Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71094646T>C" "" "VUS" "" "0000322401" "0" "50" "11" "70830059" "70830059" "subst" "0.000178751" "01804" "SHANK2_000039" "g.70830059G>A" "" "" "" "SHANK2(NM_012309.3):c.227C>T (p.(Pro76Leu)), SHANK2(NM_012309.4):c.227C>T (p.P76L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71119013G>A" "" "VUS" "" "0000338640" "0" "70" "11" "70348900" "70348900" "subst" "0" "02327" "SHANK2_000041" "g.70348900C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70502439G>T" "" "likely pathogenic" "" "0000369302" "0" "70" "11" "70333789" "70333789" "dup" "0" "01807" "SHANK2_000042" "g.70333789dup" "" "" "" "2610dupC" "NOTE: automated c. to g. conversions fails for this variant\r\nVariant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000545586" "0" "50" "11" "70319503" "70319503" "subst" "0.000616358" "01943" "SHANK2_000044" "g.70319503G>A" "" "" "" "SHANK2(NM_012309.4):c.5021C>T (p.T1674M), SHANK2(NM_012309.5):c.5021C>T (p.(Thr1674Met), p.T1674M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70473398G>A" "" "VUS" "" "0000545588" "0" "50" "11" "70331881" "70331881" "subst" "6.90484E-5" "01943" "SHANK2_000046" "g.70331881G>A" "" "" "" "SHANK2(NM_012309.4):c.4517C>T (p.T1506M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70469050G>A" "" "VUS" "" "0000545591" "0" "30" "11" "70332111" "70332111" "subst" "0.000998952" "01804" "SHANK2_000049" "g.70332111A>G" "" "" "" "SHANK2(NM_012309.3):c.4141T>C (p.(Phe1381Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70469580A>G" "" "likely benign" "" "0000545592" "0" "30" "11" "70332113" "70332113" "subst" "2.03041E-5" "01804" "SHANK2_000050" "g.70332113C>T" "" "" "" "SHANK2(NM_012309.3):c.4139G>A (p.(Ser1380Asn)), SHANK2(NM_012309.5):c.4285G>A (p.A1429T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70469582A>T" "" "likely benign" "" "0000545593" "0" "50" "11" "70332118" "70332118" "subst" "5.27923E-5" "01804" "SHANK2_000051" "g.70332118C>T" "" "" "" "SHANK2(NM_012309.3):c.4134G>A (p.(=)), SHANK2(NM_012309.5):c.4280G>A (p.R1427Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70469594C>T" "" "VUS" "" "0000545594" "0" "30" "11" "70332342" "70332342" "subst" "0" "01943" "SHANK2_000052" "g.70332342A>G" "" "" "" "SHANK2(NM_012309.4):c.4056T>C (p.V1352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70470201A>G" "" "likely benign" "" "0000545596" "0" "30" "11" "70332986" "70332986" "subst" "0.000164068" "01943" "SHANK2_000054" "g.70332986C>T" "" "" "" "SHANK2(NM_012309.4):c.3412G>A (p.A1138T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70471907C>T" "" "likely benign" "" "0000545597" "0" "30" "11" "70333098" "70333098" "subst" "4.17178E-6" "01943" "SHANK2_000055" "g.70333098C>T" "" "" "" "SHANK2(NM_133266.3):c.1536G>A (p.P512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70472182C>T" "" "likely benign" "" "0000545599" "0" "50" "11" "70338541" "70338541" "subst" "0.000826002" "01943" "SHANK2_000022" "g.70338541T>G" "" "" "" "SHANK2(NM_012309.3):c.2192A>C (p.(Lys780Gln)), SHANK2(NM_133266.3):c.574A>C (p.K192Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70490371T>G" "" "VUS" "" "0000545602" "0" "30" "11" "70506021" "70506021" "subst" "1.21829E-5" "01804" "SHANK2_000058" "g.70506021G>C" "" "" "" "SHANK2(NM_012309.3):c.1827C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70502895G>C" "" "likely benign" "" "0000545605" "0" "30" "11" "70644566" "70644566" "subst" "0.000928685" "01943" "SHANK2_000060" "g.70644566G>A" "" "" "" "SHANK2(NM_012309.4):c.1759C>T (p.P587S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70698702G>A" "" "likely benign" "" "0000545609" "0" "30" "11" "70666618" "70666618" "subst" "0" "01943" "SHANK2_000063" "g.70666618C>T" "" "" "" "SHANK2(NM_012309.4):c.1344G>A (p.Q448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70807060C>T" "" "likely benign" "" "0000545611" "0" "30" "11" "70829923" "70829923" "subst" "3.97141E-5" "01943" "SHANK2_000065" "g.70829923G>T" "" "" "" "SHANK2(NM_012309.4):c.363C>A (p.L121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71118877G>T" "" "likely benign" "" "0000613678" "0" "50" "11" "70331667" "70331667" "del" "0" "01943" "SHANK2_000067" "g.70331667del" "" "" "" "SHANK2(NM_012309.4):c.4736delC (p.P1579Rfs*49)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70468500del" "" "VUS" "" "0000613679" "0" "50" "11" "70336404" "70336404" "subst" "4.06065E-6" "01804" "SHANK2_000068" "g.70336404G>A" "" "" "" "SHANK2(NM_012309.3):c.2382C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70489319T>A" "" "VUS" "" "0000613680" "0" "30" "11" "70644651" "70644651" "subst" "0" "01943" "SHANK2_000069" "g.70644651G>A" "" "" "" "SHANK2(NM_012309.4):c.1674C>T (p.I558=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70698760G>A" "" "likely benign" "" "0000622715" "0" "30" "11" "70858206" "70858206" "subst" "3.34073E-5" "01943" "SHANK2_000070" "g.70858206G>A" "" "" "" "SHANK2(NM_012309.4):c.167C>T (p.T56M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71147160G>A" "" "likely benign" "" "0000624885" "0" "90" "11" "70666591" "70666591" "del" "0" "01807" "SHANK2_000071" "g.70666591del" "" "" "" "" "Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000656902" "0" "30" "11" "70644670" "70644670" "subst" "0.00139987" "01943" "SHANK2_000072" "g.70644670G>A" "" "" "" "SHANK2(NM_012309.4):c.1664-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70698771G>A" "" "likely benign" "" "0000656903" "0" "50" "11" "70653133" "70653133" "subst" "0" "02325" "SHANK2_000073" "g.70653133G>C" "" "" "" "SHANK2(NM_012309.5):c.1637C>G (p.P546R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70798448T>C" "" "VUS" "" "0000665619" "0" "90" "11" "70824368" "70824368" "subst" "0" "03512" "SHANK2_000074" "g.70824368C>A" "" "{PMID:Minardi 2020:32725632}" "" "" "" "Germline" "" "" "0" "" "" "g.71113322C>A" "" "VUS" "" "0000679323" "0" "50" "11" "70319180" "70319180" "subst" "4.06055E-6" "01804" "SHANK2_000075" "g.70319180G>A" "" "" "" "SHANK2(NM_012309.3):c.5198C>T (p.(Thr1733Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679324" "0" "50" "11" "70644653" "70644653" "subst" "3.32434E-5" "01943" "SHANK2_000076" "g.70644653T>C" "" "" "" "SHANK2(NM_012309.4):c.1672A>G (p.I558V), SHANK2(NM_012309.5):c.1525A>G (p.(Ile509Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679325" "0" "30" "11" "70666621" "70666621" "subst" "0.00167995" "01943" "SHANK2_000077" "g.70666621G>A" "" "" "" "SHANK2(NM_012309.4):c.1341C>T (p.P447=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000683350" "0" "70" "11" "70332413" "70332413" "subst" "0" "00006" "SHANK2_000078" "g.70332413G>A" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.70486454G>A" "" "likely pathogenic (dominant)" "" "0000723691" "0" "30" "11" "70319148" "70319148" "subst" "0.000105574" "01943" "SHANK2_000079" "g.70319148G>A" "" "" "" "SHANK2(NM_133266.3):c.3612C>T (p.A1204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723692" "0" "70" "11" "70331584" "70331584" "subst" "0" "02329" "SHANK2_000080" "g.70331584C>T" "" "" "" "SHANK2(NM_133266.5):c.3050G>A (p.W1017*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000723693" "0" "90" "11" "70332599" "70332599" "subst" "0" "02329" "SHANK2_000053" "g.70332599G>A" "" "" "" "SHANK2(NM_133266.5):c.2035C>T (p.Q679*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723694" "0" "50" "11" "70333233" "70333233" "del" "0" "02329" "SHANK2_000081" "g.70333233del" "" "" "" "SHANK2(NM_012309.4):c.3165delC (p.I1055Mfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723695" "0" "50" "11" "70506009" "70506009" "subst" "0" "02329" "SHANK2_000057" "g.70506009A>G" "" "" "" "SHANK2(NM_133266.5):c.221T>C (p.L74P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723696" "0" "30" "11" "70653170" "70653170" "subst" "0" "01943" "SHANK2_000082" "g.70653170C>T" "" "" "" "SHANK2(NM_012309.4):c.1600G>A (p.V534I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723697" "0" "50" "11" "70803619" "70803619" "subst" "0" "02325" "SHANK2_000083" "g.70803619C>T" "" "" "" "SHANK2(NM_012309.5):c.761G>A (p.G254D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805377" "0" "30" "11" "70319503" "70319503" "subst" "0.000616358" "02325" "SHANK2_000044" "g.70319503G>A" "" "" "" "SHANK2(NM_012309.4):c.5021C>T (p.T1674M), SHANK2(NM_012309.5):c.5021C>T (p.(Thr1674Met), p.T1674M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805378" "0" "30" "11" "70333191" "70333191" "subst" "2.48709E-5" "01943" "SHANK2_000084" "g.70333191G>A" "" "" "" "SHANK2(NM_133266.3):c.1443C>T (p.D481=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805379" "0" "50" "11" "70333699" "70333699" "subst" "0" "02329" "SHANK2_000085" "g.70333699G>A" "" "" "" "SHANK2(NM_012309.4):c.2699C>T (p.P900L), SHANK2(NM_133266.3):c.935C>T (p.P312L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805380" "0" "50" "11" "70829954" "70829954" "subst" "0.000158629" "01943" "SHANK2_000086" "g.70829954C>T" "" "" "" "SHANK2(NM_012309.4):c.332G>A (p.R111H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000836784" "0" "50" "11" "70349000" "70349000" "subst" "0" "03128" "SHANK2_000087" "g.70349000G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.70502895G>A" "" "pathogenic (dominant)" "ACMG" "0000841159" "0" "90" "11" "70666743" "70666743" "del" "0" "00006" "SHANK2_000071" "g.70666743del" "" "{PMID:Froukh 2020:32056211}" "" "" "" "De novo" "" "" "0" "" "" "g.70820638del" "" "pathogenic (dominant)" "" "0000853152" "0" "50" "11" "70332091" "70332091" "subst" "0.000296435" "01943" "SHANK2_000089" "g.70332091T>C" "" "" "" "SHANK2(NM_133266.3):c.2543A>G (p.D848G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853153" "0" "50" "11" "70332113" "70332113" "subst" "2.03041E-5" "02325" "SHANK2_000050" "g.70332113C>T" "" "" "" "SHANK2(NM_012309.3):c.4139G>A (p.(Ser1380Asn)), SHANK2(NM_012309.5):c.4285G>A (p.A1429T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853154" "0" "50" "11" "70332118" "70332118" "subst" "5.27923E-5" "02325" "SHANK2_000051" "g.70332118C>T" "" "" "" "SHANK2(NM_012309.3):c.4134G>A (p.(=)), SHANK2(NM_012309.5):c.4280G>A (p.R1427Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853155" "0" "50" "11" "70803616" "70803616" "subst" "0.000289211" "02325" "SHANK2_000092" "g.70803616G>A" "" "" "" "SHANK2(NM_012309.5):c.764C>T (p.(Ala255Val), p.A255V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862686" "0" "30" "11" "70319250" "70319250" "subst" "0.000203047" "01943" "SHANK2_000088" "g.70319250C>T" "" "" "" "SHANK2(NM_133266.3):c.3510G>A (p.A1170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862687" "0" "70" "11" "70332589" "70332589" "del" "0" "02327" "SHANK2_000090" "g.70332589del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000862688" "0" "50" "11" "70333699" "70333699" "subst" "0" "01943" "SHANK2_000085" "g.70333699G>A" "" "" "" "SHANK2(NM_012309.4):c.2699C>T (p.P900L), SHANK2(NM_133266.3):c.935C>T (p.P312L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862689" "0" "30" "11" "70666459" "70666459" "subst" "0.00126809" "01943" "SHANK2_000091" "g.70666459C>T" "" "" "" "SHANK2(NM_012309.4):c.1493+10G>A, SHANK2(NM_012309.5):c.1493+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890159" "0" "30" "11" "70332234" "70332239" "dup" "0" "02325" "SHANK2_000005" "g.70332234_70332239dup" "" "" "" "SHANK2(NM_012309.5):c.4161_4166dupGCCATT (p.L1387_P1388dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890160" "0" "70" "11" "70338439" "70338439" "subst" "0" "02329" "SHANK2_000093" "g.70338439C>T" "" "" "" "SHANK2(NM_012309.4):c.2439+1G>A, SHANK2(NM_012309.5):c.2439+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000890161" "0" "50" "11" "70505962" "70505962" "subst" "2.84282E-5" "02325" "SHANK2_000094" "g.70505962C>T" "" "" "" "SHANK2(NM_012309.5):c.2032G>A (p.G678R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949790" "0" "70" "11" "70332914" "70332914" "subst" "0" "02329" "SHANK2_000096" "g.70332914C>A" "" "" "" "SHANK2(NM_012309.4):c.3484G>T (p.E1162*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000966554" "0" "50" "11" "70332513" "70332515" "del" "0" "02325" "SHANK2_000097" "g.70332513_70332515del" "" "" "" "SHANK2(NM_012309.5):c.3888_3890delGAA (p.K1296del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966556" "0" "30" "11" "70824407" "70824407" "subst" "6.60939E-6" "02327" "SHANK2_000098" "g.70824407G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979842" "0" "50" "11" "70319282" "70319282" "subst" "8.12539E-6" "02325" "SHANK2_000099" "g.70319282G>A" "" "" "" "SHANK2(NM_012309.5):c.5242C>T (p.P1748S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979843" "0" "70" "11" "70348326" "70348326" "subst" "0" "01804" "SHANK2_000100" "g.70348326C>A" "" "" "" "SHANK2(NM_012309.5):c.2116G>T (p.(Glu706*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000979844" "0" "50" "11" "70348373" "70348373" "subst" "0" "01804" "SHANK2_000101" "g.70348373C>T" "" "" "" "SHANK2(NM_012309.5):c.2216G>A (p.(Arg739Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979845" "0" "30" "11" "70666459" "70666459" "subst" "0.00126809" "01804" "SHANK2_000091" "g.70666459C>T" "" "" "" "SHANK2(NM_012309.4):c.1493+10G>A, SHANK2(NM_012309.5):c.1493+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979846" "0" "30" "11" "70803616" "70803616" "subst" "0.000289211" "01804" "SHANK2_000092" "g.70803616G>A" "" "" "" "SHANK2(NM_012309.5):c.764C>T (p.(Ala255Val), p.A255V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979847" "0" "30" "11" "70805714" "70805714" "subst" "0.000768907" "01804" "SHANK2_000102" "g.70805714C>A" "" "" "" "SHANK2(NM_012309.5):c.613G>T (p.(Ala205Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999440" "0" "30" "11" "70331465" "70331465" "subst" "0" "01804" "SHANK2_000103" "g.70331465C>T" "" "" "" "SHANK2(NM_133266.3):c.3169G>A (p.(Ala1057Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999441" "0" "30" "11" "70331984" "70331984" "subst" "0" "01804" "SHANK2_000104" "g.70331984G>C" "" "" "" "SHANK2(NM_133266.3):c.2650C>G (p.(Pro884Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999442" "0" "30" "11" "70332268" "70332268" "subst" "1.21871E-5" "01804" "SHANK2_000105" "g.70332268G>A" "" "" "" "SHANK2(NM_133266.3):c.2366C>T (p.(Ala789Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999443" "0" "50" "11" "70332826" "70332826" "subst" "4.15069E-6" "01804" "SHANK2_000106" "g.70332826G>A" "" "" "" "SHANK2(NM_133266.3):c.1808C>T (p.(Pro603Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999444" "0" "30" "11" "70333479" "70333479" "subst" "0" "01804" "SHANK2_000107" "g.70333479C>G" "" "" "" "SHANK2(NM_133266.3):c.1155G>C (p.(Lys385Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999445" "0" "50" "11" "70333756" "70333756" "subst" "0" "01804" "SHANK2_000108" "g.70333756G>T" "" "" "" "SHANK2(NM_133266.3):c.878C>A (p.(Pro293His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999446" "0" "50" "11" "70338439" "70338439" "subst" "0" "02325" "SHANK2_000093" "g.70338439C>T" "" "" "" "SHANK2(NM_012309.4):c.2439+1G>A, SHANK2(NM_012309.5):c.2439+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999447" "0" "50" "11" "70505928" "70505928" "subst" "0" "01804" "SHANK2_000109" "g.70505928C>G" "" "" "" "SHANK2(NM_133266.3):c.297+5G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999448" "0" "50" "11" "70507850" "70507850" "subst" "0" "01804" "SHANK2_000110" "g.70507850C>T" "" "" "" "SHANK2(NM_133266.3):c.23G>A (p.(Gly8Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014879" "0" "30" "11" "70331641" "70331641" "subst" "0.00073605" "02325" "SHANK2_000111" "g.70331641G>A" "" "" "" "SHANK2(NM_012309.5):c.4757C>T (p.P1586L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014880" "0" "90" "11" "70331690" "70331690" "subst" "0" "02327" "SHANK2_000112" "g.70331690C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014881" "0" "50" "11" "70666754" "70666754" "subst" "0.000105358" "02325" "SHANK2_000113" "g.70666754C>T" "" "" "" "SHANK2(NM_012309.5):c.1208G>A (p.R403H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001017593" "21" "70" "11" "70319368" "70319369" "del" "0" "03544" "SHANK2_000114" "g.70319368_70319369del" "" "" "" "" "inherited from mother with mild intellectual disability" "Germline" "yes" "" "0" "" "" "g.70473263_70473264del" "{CV:3381763}" "likely pathogenic (dominant)" "ACMG" "0001022209" "0" "50" "11" "70336497" "70336497" "subst" "0" "04796" "SHANK2_000115" "g.70336497A>C" "" "" "" "" "no effect on RNA" "Germline/De novo (untested)" "" "" "0" "" "" "g.70490392A>C" "" "VUS" "" "0001026077" "0" "50" "11" "70858342" "70858342" "subst" "2.65312E-5" "02325" "SHANK2_000116" "g.70858342C>T" "" "" "" "SHANK2(NM_012309.5):c.31G>A (p.E11K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038726" "0" "30" "11" "70319503" "70319503" "subst" "0.000616358" "01804" "SHANK2_000044" "g.70319503G>A" "" "" "" "SHANK2(NM_012309.4):c.5021C>T (p.T1674M), SHANK2(NM_012309.5):c.5021C>T (p.(Thr1674Met), p.T1674M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038727" "0" "30" "11" "70348897" "70348897" "subst" "8.23371E-6" "01804" "SHANK2_000117" "g.70348897G>A" "" "" "" "SHANK2(NM_012309.5):c.2197+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038728" "0" "30" "11" "70644653" "70644653" "subst" "3.32434E-5" "01804" "SHANK2_000076" "g.70644653T>C" "" "" "" "SHANK2(NM_012309.4):c.1672A>G (p.I558V), SHANK2(NM_012309.5):c.1525A>G (p.(Ile509Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038729" "0" "30" "11" "70644669" "70644669" "subst" "0.000113303" "01804" "SHANK2_000118" "g.70644669C>T" "" "" "" "SHANK2(NM_012309.5):c.1664-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038730" "0" "30" "11" "70858366" "70858366" "subst" "0.00107589" "01804" "SHANK2_000119" "g.70858366G>A" "" "" "" "SHANK2(NM_012309.5):c.7C>T (p.(Arg3Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SHANK2 ## Count = 139 "{{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}}" "0000005024" "00025425" "50" "-8388608" "0" "8388607" "0" "c.?A>C" "" "p.?" "" "0000012969" "00025425" "50" "-8388608" "0" "8388607" "0" "c.?A>C" "" "p.?" "" "0000211224" "00025425" "70" "1213" "0" "1213" "0" "c.1213C>T" "r.(?)" "p.(Arg405Trp)" "12" "0000211225" "00025425" "70" "1759" "0" "1759" "0" "c.1759C>T" "r.(?)" "p.(Pro587Ser)" "13" "0000211226" "00025425" "70" "4161" "0" "4166" "0" "c.4161_4166dup" "r.(?)" "p.(Leu1387_Pro1388dup)" "24" "0000211227" "00025425" "70" "2521" "0" "2521" "0" "c.2521C>T" "r.(?)" "p.(Arg841*)" "22" "0000211228" "00025425" "70" "4161" "0" "4166" "0" "c.4161_4166dup" "r.(?)" "p.(Leu1387_Pro1388dup)" "24" "0000211229" "00025425" "70" "1213" "0" "1213" "0" "c.1213C>T" "r.(?)" "p.(Arg405Trp)" "12" "0000211230" "00025425" "70" "1759" "0" "1759" "0" "c.1759C>T" "r.(?)" "p.(Pro587Ser)" "13" "0000211231" "00025425" "70" "1759" "0" "1759" "0" "c.1759C>T" "r.(?)" "p.(Pro587Ser)" "13" "0000211232" "00025425" "70" "4517" "0" "4517" "0" "c.4517C>T" "r.(?)" "p.(Thr1506Met)" "24" "0000211233" "00025425" "70" "5185" "0" "5185" "0" "c.5185G>A" "r.(?)" "p.(Ala1729Thr)" "25" "0000211234" "00025425" "70" "5185" "0" "5185" "0" "c.5185G>A" "r.(?)" "p.(Ala1729Thr)" "25" "0000211235" "00025425" "90" "484" "-1" "912" "1" "c.(483+1_484-1)_(912+1_913-1)del" "r.?" "p.?" "4i_7i" "0000211236" "00025425" "90" "593" "-1" "912" "1" "c.(592+1_593-1)_(912+1_913-1)del" "r.593_913del" "p.Glu198Aspfs*12" "5i_7i" "0000211237" "00025425" "70" "1759" "0" "1759" "0" "c.1759C>T" "r.(?)" "p.(Pro587Ser)" "13" "0000211238" "00025425" "70" "1829" "0" "1829" "0" "c.1829C>A" "r.(?)" "p.(Ser610Tyr)" "14" "0000211239" "00025425" "70" "4279" "0" "4279" "0" "c.4279C>T" "r.(?)" "p.(Arg1427Trp)" "24" "0000211240" "00025425" "70" "5185" "0" "5185" "0" "c.5185G>A" "r.(?)" "p.(Ala1729Thr)" "25" "0000211241" "00025425" "50" "1213" "0" "1213" "0" "c.1213C>T" "r.(?)" "p.(Arg405Trp)" "12" "0000211242" "00025425" "50" "1759" "0" "1759" "0" "c.1759C>T" "r.(?)" "p.(Pro587Ser)" "13" "0000211243" "00025425" "50" "1829" "0" "1829" "0" "c.1829C>A" "r.(?)" "p.(Ser610Tyr)" "14" "0000211244" "00025425" "50" "4161" "0" "4166" "0" "c.4161_4166dup" "r.(?)" "p.(Leu1387_Pro1388dup)" "24" "0000211245" "00025425" "50" "4279" "0" "4279" "0" "c.4279C>T" "r.(?)" "p.(Arg1427Trp)" "24" "0000211246" "00025425" "50" "4517" "0" "4517" "0" "c.4517C>T" "r.(?)" "p.(Thr1506Met)" "24" "0000211247" "00025425" "50" "5185" "0" "5185" "0" "c.5185G>A" "r.(?)" "p.(Ala1729Thr)" "25" "0000248125" "00025425" "30" "4844" "0" "4844" "0" "c.4844T>C" "r.(?)" "p.?" "" "0000254115" "00025425" "30" "4844" "0" "4844" "0" "c.4844T>C" "r.(?)" "p.?" "" "0000298191" "00025425" "30" "4675" "0" "4675" "0" "c.4675G>A" "r.(?)" "p.(=)" "" "0000298192" "00025425" "30" "2306" "0" "2306" "0" "c.2306G>A" "r.(?)" "p.?" "" "0000308044" "00025425" "30" "1070" "0" "1070" "0" "c.1070G>C" "r.(?)" "p.?" "" "0000308045" "00025425" "50" "1284" "0" "1284" "0" "c.1284G>A" "r.(?)" "p.?" "" "0000308046" "00025425" "30" "1523" "0" "1523" "0" "c.1523G>A" "r.(?)" "p.?" "" "0000308047" "00025425" "50" "227" "0" "227" "0" "c.227C>T" "r.(?)" "p.(Pro76Leu)" "" "0000308048" "00025425" "30" "318" "0" "318" "0" "c.318G>A" "r.(?)" "p.(Pro106=)" "" "0000308049" "00025425" "30" "3939" "0" "3939" "0" "c.3939C>T" "r.(?)" "p.(=)" "" "0000308050" "00025425" "30" "4125" "0" "4125" "0" "c.4125C>T" "r.(?)" "p.(=)" "" "0000308051" "00025425" "30" "4675" "0" "4675" "0" "c.4675G>A" "r.(?)" "p.(=)" "" "0000308052" "00025425" "30" "51" "0" "51" "0" "c.51C>T" "r.(?)" "p.(Ser17=)" "" "0000308053" "00025425" "10" "2306" "0" "2306" "0" "c.2306G>A" "r.(?)" "p.?" "" "0000322380" "00025425" "50" "4938" "0" "4938" "0" "c.4938C>T" "r.(?)" "p.?" "" "0000322382" "00025425" "50" "4292" "0" "4292" "0" "c.4292C>A" "r.(?)" "p.(=)" "" "0000322383" "00025425" "50" "3857" "0" "3857" "0" "c.3857C>A" "r.(?)" "p.(=)" "" "0000322384" "00025425" "50" "3442" "0" "3442" "0" "c.3442G>A" "r.(?)" "p.(=)" "" "0000322385" "00025425" "50" "2435" "0" "2436" "0" "c.2435_2436del" "r.?" "p.?" "" "0000322387" "00025425" "50" "2306" "0" "2306" "0" "c.2306G>A" "r.(?)" "p.?" "" "0000322388" "00025425" "50" "2191" "0" "2191" "0" "c.2191A>C" "r.(?)" "p.?" "" "0000322390" "00025425" "50" "1823" "0" "1823" "0" "c.1823C>T" "r.(?)" "p.?" "" "0000322391" "00025425" "50" "1937" "-72" "1937" "-72" "c.1937-72C>T" "r.(=)" "p.(=)" "" "0000322392" "00025425" "50" "1593" "0" "1593" "0" "c.1593G>C" "r.(?)" "p.?" "" "0000322393" "00025425" "50" "1591" "0" "1591" "0" "c.1591G>A" "r.(?)" "p.?" "" "0000322394" "00025425" "50" "1517" "-8" "1517" "-8" "c.1517-8G>T" "r.(=)" "p.(=)" "" "0000322395" "00025425" "50" "1345" "0" "1345" "0" "c.1345G>A" "r.(?)" "p.?" "" "0000322396" "00025425" "30" "1330" "0" "1330" "0" "c.1330C>G" "r.(?)" "p.?" "" "0000322397" "00025425" "50" "1224" "0" "1224" "0" "c.1224C>T" "r.(?)" "p.?" "" "0000322398" "00025425" "50" "1069" "0" "1069" "0" "c.1069C>T" "r.(?)" "p.?" "" "0000322399" "00025425" "50" "1506" "0" "1506" "0" "c.1506=" "r.(=)" "p.(Ala502=)" "" "0000322400" "00025425" "50" "635" "0" "635" "0" "c.635A>G" "r.(?)" "p.(Glu212Gly)" "" "0000322401" "00025425" "50" "227" "0" "227" "0" "c.227C>T" "r.(?)" "p.(Pro76Leu)" "" "0000338640" "00025425" "70" "2050" "1" "2050" "1" "c.2050+1G>A" "r.spl?" "p.?" "" "0000369302" "00025425" "70" "2609" "0" "2609" "0" "c.2609dup" "r.(?)" "p.(Met871Asnfs*15)" "24" "0000545586" "00025425" "50" "4874" "0" "4874" "0" "c.4874C>T" "r.(?)" "p.?" "" "0000545588" "00025425" "50" "4370" "0" "4370" "0" "c.4370C>T" "r.(?)" "p.(=)" "" "0000545591" "00025425" "30" "4140" "0" "4140" "0" "c.4140T>C" "r.(?)" "p.(=)" "" "0000545592" "00025425" "30" "4138" "0" "4138" "0" "c.4138G>A" "r.(?)" "p.(=)" "" "0000545593" "00025425" "50" "4133" "0" "4133" "0" "c.4133G>A" "r.(?)" "p.(=)" "" "0000545594" "00025425" "30" "3909" "0" "3909" "0" "c.3909T>C" "r.(?)" "p.(=)" "" "0000545596" "00025425" "30" "3265" "0" "3265" "0" "c.3265G>A" "r.(?)" "p.(=)" "" "0000545597" "00025425" "30" "3153" "0" "3153" "0" "c.3153G>A" "r.(?)" "p.(=)" "" "0000545599" "00025425" "50" "2191" "0" "2191" "0" "c.2191A>C" "r.(?)" "p.?" "" "0000545602" "00025425" "30" "1826" "0" "1826" "0" "c.1826C>G" "r.(?)" "p.?" "" "0000545605" "00025425" "30" "1612" "0" "1612" "0" "c.1612C>T" "r.(?)" "p.?" "" "0000545609" "00025425" "30" "1197" "0" "1197" "0" "c.1197G>A" "r.(?)" "p.?" "" "0000545611" "00025425" "30" "363" "0" "363" "0" "c.363C>A" "r.(?)" "p.(Leu121=)" "" "0000613678" "00025425" "50" "9784" "0" "9784" "0" "c.*4381del" "r.?" "p.?" "" "0000613679" "00025425" "50" "2381" "0" "2381" "0" "c.2381C>T" "r.(?)" "p.?" "" "0000613680" "00025425" "30" "1527" "0" "1527" "0" "c.1527C>T" "r.(?)" "p.?" "" "0000622715" "00025425" "30" "167" "0" "167" "0" "c.167C>T" "r.(?)" "p.(Thr56Met)" "" "0000624885" "00025425" "90" "1224" "0" "1224" "0" "c.1224del" "r.(?)" "p.(Glu409ArgfsTer148)" "" "0000656902" "00025425" "30" "1517" "-9" "1517" "-9" "c.1517-9C>T" "r.(=)" "p.(=)" "" "0000656903" "00025425" "50" "1490" "0" "1490" "0" "c.1490C>G" "r.(?)" "p.?" "" "0000665619" "00025425" "90" "454" "0" "454" "0" "c.454G>T" "r.(?)" "p.(Glu152*)" "" "0000679323" "00025425" "50" "5197" "0" "5197" "0" "c.5197C>T" "r.(?)" "p.?" "" "0000679324" "00025425" "50" "1525" "0" "1525" "0" "c.1525A>G" "r.(?)" "p.?" "" "0000679325" "00025425" "30" "1194" "0" "1194" "0" "c.1194C>T" "r.(?)" "p.?" "" "0000683350" "00025425" "70" "3839" "0" "3839" "0" "c.3839C>T" "r.(?)" "p.(Gln741*)" "" "0000723691" "00025425" "30" "5229" "0" "5229" "0" "c.5229C>T" "r.(?)" "p.?" "" "0000723692" "00025425" "70" "4667" "0" "4667" "0" "c.4667G>A" "r.(?)" "p.(=)" "" "0000723693" "00025425" "90" "3652" "0" "3652" "0" "c.3652C>T" "r.(?)" "p.(=)" "" "0000723694" "00025425" "50" "3018" "0" "3018" "0" "c.3018del" "r.(?)" "p.(=)" "" "0000723695" "00025425" "50" "1838" "0" "1838" "0" "c.1838T>C" "r.(?)" "p.?" "" "0000723696" "00025425" "30" "1752" "0" "1752" "0" "c.1752G>A" "r.(?)" "p.(Gln584=)" "" "0000723697" "00025425" "50" "761" "0" "761" "0" "c.761G>A" "r.(?)" "p.(Gly254Asp)" "" "0000805377" "00025425" "30" "4874" "0" "4874" "0" "c.4874C>T" "r.(?)" "p.?" "" "0000805378" "00025425" "30" "5868" "0" "5868" "0" "c.*465G>T" "r.(=)" "p.(=)" "" "0000805379" "00025425" "50" "5195" "0" "5195" "0" "c.5195C>T" "r.(?)" "p.(Ser1732Phe)" "" "0000805380" "00025425" "50" "332" "0" "332" "0" "c.332G>A" "r.(?)" "p.(Arg111His)" "" "0000836784" "00025425" "90" "2098" "0" "2098" "0" "c.2098C>T" "r.(?)" "p.(Gln700Ter)" "" "0000841159" "00025425" "90" "1224" "0" "1224" "0" "c.1224del" "r.(?)" "p.(Asn409ThrfsTer148)" "" "0000853152" "00025425" "50" "4307" "0" "4307" "0" "c.4307A>G" "r.(?)" "p.(Asp1436Gly)" "" "0000853153" "00025425" "50" "4138" "0" "4138" "0" "c.4138G>A" "r.(?)" "p.(=)" "" "0000853154" "00025425" "50" "4133" "0" "4133" "0" "c.4133G>A" "r.(?)" "p.(=)" "" "0000853155" "00025425" "50" "764" "0" "764" "0" "c.764C>T" "r.(?)" "p.(Ala255Val)" "" "0000862686" "00025425" "30" "5274" "0" "5274" "0" "c.5274G>A" "r.(?)" "p.(Ala1758=)" "" "0000862687" "00025425" "70" "3812" "0" "3812" "0" "c.3812del" "r.(?)" "p.(Gly1271Aspfs*3)" "" "0000862688" "00025425" "50" "5195" "0" "5195" "0" "c.5195C>T" "r.(?)" "p.(Ser1732Phe)" "" "0000862689" "00025425" "30" "1493" "10" "1493" "10" "c.1493+10G>A" "r.(=)" "p.(=)" "" "0000890159" "00025425" "30" "4161" "0" "4166" "0" "c.4161_4166dup" "r.(?)" "p.(Leu1387_Pro1388dup)" "" "0000890160" "00025425" "70" "2439" "1" "2439" "1" "c.2439+1G>A" "r.spl?" "p.?" "" "0000890161" "00025425" "50" "2032" "0" "2032" "0" "c.2032G>A" "r.(?)" "p.(Gly678Arg)" "" "0000949790" "00025425" "70" "3337" "0" "3337" "0" "c.3337G>T" "r.(?)" "p.?" "" "0000966554" "00025425" "50" "3741" "0" "3743" "0" "c.3741_3743del" "r.?" "p.?" "" "0000966556" "00025425" "30" "415" "0" "415" "0" "c.415C>T" "r.(?)" "p.?" "" "0000979842" "00025425" "50" "5095" "0" "5095" "0" "c.5095C>T" "r.(?)" "p.?" "" "0000979843" "00025425" "70" "2116" "0" "2116" "0" "c.2116G>T" "r.(?)" "p.?" "" "0000979844" "00025425" "50" "2069" "0" "2069" "0" "c.2069G>A" "r.(?)" "p.?" "" "0000979845" "00025425" "30" "1493" "10" "1493" "10" "c.1493+10G>A" "r.(=)" "p.(=)" "" "0000979846" "00025425" "30" "764" "0" "764" "0" "c.764C>T" "r.(?)" "p.(Ala255Val)" "" "0000979847" "00025425" "30" "613" "0" "613" "0" "c.613G>T" "r.(?)" "p.?" "" "0000999440" "00025425" "30" "4786" "0" "4786" "0" "c.4786G>A" "r.(?)" "p.?" "" "0000999441" "00025425" "30" "4267" "0" "4267" "0" "c.4267C>G" "r.(?)" "p.?" "" "0000999442" "00025425" "30" "3983" "0" "3983" "0" "c.3983C>T" "r.(?)" "p.?" "" "0000999443" "00025425" "50" "3425" "0" "3425" "0" "c.3425C>T" "r.(?)" "p.?" "" "0000999444" "00025425" "30" "2772" "0" "2772" "0" "c.2772G>C" "r.(?)" "p.?" "" "0000999445" "00025425" "50" "2495" "0" "2495" "0" "c.2495C>A" "r.(?)" "p.?" "" "0000999446" "00025425" "50" "2439" "1" "2439" "1" "c.2439+1G>A" "r.spl?" "p.?" "" "0000999447" "00025425" "50" "1914" "5" "1914" "5" "c.1914+5G>C" "r.spl?" "p.?" "" "0000999448" "00025425" "50" "1707" "-67" "1707" "-67" "c.1707-67G>A" "r.(=)" "p.(=)" "" "0001014879" "00025425" "30" "4610" "0" "4610" "0" "c.4610C>T" "r.(?)" "p.?" "" "0001014880" "00025425" "90" "4561" "0" "4561" "0" "c.4561G>T" "r.(?)" "p.?" "" "0001014881" "00025425" "50" "1061" "0" "1061" "0" "c.1061G>A" "r.(?)" "p.?" "" "0001017593" "00025425" "70" "5156" "0" "5157" "0" "c.5156_5157del" "r.?" "p.(Lys1719Argfs*23)" "27" "0001022209" "00025425" "50" "2440" "-5" "2440" "-5" "c.2440-5T>G" "r.2439_2440=" "p.=" "7i" "0001026077" "00025425" "50" "31" "0" "31" "0" "c.31G>A" "r.(?)" "p.?" "" "0001038726" "00025425" "30" "4874" "0" "4874" "0" "c.4874C>T" "r.(?)" "p.?" "" "0001038727" "00025425" "30" "2050" "4" "2050" "4" "c.2050+4C>T" "r.spl?" "p.?" "" "0001038728" "00025425" "30" "1525" "0" "1525" "0" "c.1525A>G" "r.(?)" "p.?" "" "0001038729" "00025425" "30" "1517" "-8" "1517" "-8" "c.1517-8G>A" "r.(=)" "p.(=)" "" "0001038730" "00025425" "30" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 34 "{{screeningid}}" "{{variantid}}" "0000000209" "0000005024" "0000000210" "0000012969" "0000122332" "0000211224" "0000122333" "0000211225" "0000122334" "0000211226" "0000122335" "0000211227" "0000122336" "0000211228" "0000122337" "0000211229" "0000122338" "0000211230" "0000122339" "0000211231" "0000122340" "0000211232" "0000122341" "0000211233" "0000122342" "0000211234" "0000122343" "0000211235" "0000122344" "0000211236" "0000122345" "0000211237" "0000122346" "0000211238" "0000122347" "0000211239" "0000122348" "0000211240" "0000122349" "0000211241" "0000122350" "0000211242" "0000122351" "0000211243" "0000122352" "0000211244" "0000122353" "0000211245" "0000122354" "0000211246" "0000122355" "0000211247" "0000165577" "0000369302" "0000271037" "0000624885" "0000302386" "0000665619" "0000308916" "0000683350" "0000402552" "0000836784" "0000405098" "0000841159" "0000459539" "0001017593" "0000462682" "0001022209"