### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EZH2) # 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}}" "EZH2" "enhancer of zeste homolog 2 (Drosophila)" "7" "q35-q36" "unknown" "NG_032043.1" "UD_134408472062" "" "http://www.LOVD.nl/EZH2" "" "1" "3527" "2146" "601573" "1" "1" "1" "1" "Establishment of the database 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/EZH2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-07-21 00:00:00" "00006" "2024-05-24 16:20:20" "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}}" "00023814" "EZH2" "transcript variant 1" "004" "NM_004456.4" "" "NP_004447.2" "" "" "" "-193" "2530" "2256" "148581441" "148504464" "00006" "2013-05-17 15:00:38" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00133" "WVS" "Weaver syndrome (WVS)" "AD" "277590" "" "" "" "00006" "2013-05-17 15:33:21" "00006" "2021-12-10 21:51:32" "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" "00539" "CVDPX" "dysplasia, valvular, caridac (EDS5)" "XL" "305200" "" "" "" "00006" "2014-09-25 22:12:50" "00006" "2024-02-13 14:05:31" "00704" "JMML;CMML" "leukemia, juvenile myelomonocytic (JMML, leukemia, chronic myelomonocytic (CMML))" "AD;SMu" "607785" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00929" "WVS2" "Weaver syndrome, type 2 (WVS-2)" "" "614421" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01578" "THCYT1" "thrombocythemia, type 1" "" "187950" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2023-09-01 13:05:31" "02694" "HES" "hypereosinophilic syndrome, idiopathic (HES)" "IC;SMu" "607685" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02746" "CML" "leukemia, myeloid, chronic (CML)" "SMu" "608232" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03231" "FL1" "lymphoma, follicular, type 1 (FL-1)" "" "613024" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04309" "PMF" "platelet membrane fluidity (PMF)" "" "173560" "" "" "" "00008" "2015-08-07 16:24:19" "00006" "2015-12-08 23:53:05" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "EZH2" "00133" "EZH2" "00139" "EZH2" "00929" ## Individuals ## Do not remove or alter this header ## ## Count = 137 "{{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}}" "00035718" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035719" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035720" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035721" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035722" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035723" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035724" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035725" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035726" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035727" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035728" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035729" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00047205" "" "" "" "1" "" "00004" "{PMID:Miyake 2010:20533528}" "" "F" "" "" "" "0" "" "" "Japanese" "" "00047206" "" "" "" "1" "" "00004" "{PMID:Miyake 2010:20533528}" "" "M" "" "" "" "0" "" "" "Japanese" "" "00047207" "" "" "" "1" "" "00004" "{PMID:Miyake 2010:20533528}" "" "F" "" "" "" "0" "" "" "Japanese" "" "00047208" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "?" "" "" "" "0" "" "" "" "" "00047209" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "M" "" "" "" "0" "" "" "" "" "00047210" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "M" "" "" "" "0" "" "" "" "" "00047211" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "M" "" "" "" "0" "" "" "" "" "00047212" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "F" "" "" "" "0" "" "" "" "" "00047213" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "F" "" "" "" "0" "" "" "" "" "00047214" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "?" "" "" "" "0" "" "" "" "" "00047215" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "M" "" "" "" "0" "" "" "" "" "00047216" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "M" "" "" "" "0" "" "" "" "" "00047217" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "M" "" "" "" "0" "" "" "" "" "00047218" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "M" "" "" "" "0" "" "" "" "" "00047219" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "?" "" "" "" "0" "" "" "" "" "00047220" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "M" "" "" "" "0" "" "" "" "" "00047221" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "F" "" "" "" "0" "" "" "" "" "00047222" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "M" "" "" "" "0" "" "" "" "" "00047223" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "M" "" "" "" "0" "" "" "" "" "00047224" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "?" "" "" "" "0" "" "" "" "" "00047225" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "?" "" "" "" "0" "" "" "" "" "00047226" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "M" "" "" "" "0" "" "" "" "" "00047227" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "?" "" "" "" "0" "" "" "" "" "00047228" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "M" "" "" "" "0" "" "" "" "" "00047229" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "F" "" "" "" "0" "" "" "" "" "00047230" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "?" "" "" "" "0" "" "" "" "" "00047231" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "?" "" "" "" "0" "" "" "" "" "00047232" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "F" "" "" "" "0" "" "" "" "" "00047233" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "M" "" "" "" "0" "" "" "" "" "00047234" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "M" "" "" "" "0" "" "" "" "" "00047235" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "F" "" "" "" "0" "" "" "" "" "00047236" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "M" "" "" "" "0" "" "" "" "" "00047237" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "F" "" "" "" "0" "" "" "" "" "00047238" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "?" "" "" "" "0" "" "" "" "" "00047239" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "M" "" "" "" "0" "" "" "" "" "00047240" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "M" "" "" "" "0" "" "" "" "" "00047241" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "M" "" "" "" "0" "" "" "" "" "00047242" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "?" "" "" "" "0" "" "" "" "" "00047243" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "F" "" "" "" "0" "" "" "" "" "00047244" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "F" "" "" "" "0" "" "" "" "" "00047245" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "M" "" "" "" "0" "" "" "" "" "00047246" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "F" "" "" "" "0" "" "" "" "" "00047247" "" "" "" "1" "" "00004" "{PMID:Morin 2010:20081860}" "Carries also the Asn640 mutation (in cis)" "F" "" "" "" "0" "" "" "" "" "00047248" "" "" "" "1" "" "00004" "{PMID:Morin 2010:20081860}" "" "M" "" "" "" "0" "" "" "" "" "00047249" "" "" "" "1" "" "00004" "{PMID:Morin 2010:20081860}" "" "F" "" "" "" "0" "" "" "" "" "00047250" "" "" "" "1" "" "00004" "{PMID:Morin 2010:20081860}" "" "F" "" "" "" "0" "" "" "" "" "00047251" "" "" "" "1" "" "00004" "{PMID:Morin 2010:20081860}" "" "M" "" "" "" "0" "" "" "" "" "00047252" "" "" "" "1" "" "00004" "{PMID:Morin 2010:20081860}" "GCB cell lines: mutated EZH2: DB" "M" "" "" "" "0" "" "" "" "" "00047253" "" "" "" "1" "" "00004" "{PMID:Morin 2010:20081860}" "GCB cell lines: mutated EZH2: KARPAS 422" "F" "" "" "" "0" "" "" "" "" "00047254" "" "" "" "1" "" "00004" "{PMID:Morin 2010:20081860}" "GCB cell lines: mutated EZH2: SU-DHL-6" "M" "" "" "" "0" "" "" "" "" "00047255" "" "" "" "1" "" "00004" "{PMID:Morin 2010:20081860}" "GCB cell lines: mutated EZH2: WSU-DLCL2" "M" "" "" "" "0" "" "" "" "" "00047256" "" "" "" "1" "" "00004" "{PMID:Morin 2010:20081860}" "GCB cell lines: mutated EZH2: OCI-LY1" "?" "" "" "" "0" "" "" "" "" "00047257" "" "" "" "7" "" "00004" "{PMID:Morin 2010:20081860}" "Found, in cis, in conjunction with a Tyr641 mutation" "?" "" "" "" "0" "" "" "" "" "00047258" "" "" "" "2" "" "00004" "{PMID:Morin 2010:20081860}" "Found, in cis, in conjunction with a Tyr641 mutation" "?" "" "" "" "0" "" "" "" "" "00047259" "" "" "" "1" "" "00004" "{PMID:Ernst 2010:20601953}" "" "?" "" "" "" "0" "" "" "" "" "00047260" "" "" "" "1" "" "00079" "{PMID:Gibson 2012:22177091}, {PMID:Cohen 2016:27193220}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "United States" "" "0" "" "" "white" "Proband1" "00047261" "" "" "" "1" "" "01375" "{PMID:Gibson 2012:22177091}, {PMID:Cohen 2016:27193220}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "" "Proband2" "00047262" "" "" "" "1" "" "01375" "{PMID:Gibson 2012:22177091}, {PMID:Cohen 2016:27193220}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "" "Proband3" "00047263" "" "" "" "1" "" "01375" "{PMID:Huffman 2001:11241499}, {PMID:Cohen 2016:27193220}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "United States" "" "0" "" "" "" "Proband4" "00047264" "" "" "" "1" "" "01375" "{PMID:Cohen 2016:27193220}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "(Canada)" "" "0" "" "" "white" "Proband5" "00047265" "" "" "" "1" "" "01375" "{PMID:Cohen 2016:27193220}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Spain" "" "0" "" "" "" "Proband6" "00047266" "" "" "" "1" "" "01375" "{PMID:Cohen 2016:27193220}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "France" "" "0" "" "" "white" "Proband7" "00047267" "" "" "" "1" "" "01375" "Vancouver: Canada" "Weaver-like features" "M" "no" "Italy" "" "0" "" "" "white" "" "00047268" "" "" "" "1" "" "01375" "Vancouver: Canada" "Weaver-like features" "F" "no" "Portugal" "" "0" "" "" "white" "" "00047269" "" "" "" "1" "" "01375" "{PMID:Tatton-Brown 2011:22190405}, {PMID:Tatton-Brown 2013:24214728}" "" "M" "" "" "" "0" "" "" "" "Case1/Case5" "00047270" "" "" "" "1" "" "01375" "{PMID:Tatton-Brown 2011:22190405}, {PMID:Tatton-Brown 2013:24214728}" "" "M" "" "" "" "0" "" "" "" "Case3/Case19" "00047271" "" "" "" "1" "" "01375" "{PMID:Tatton-Brown 2011:22190405}, {PMID:Tatton-Brown 2013:24214728}" "" "F" "" "" "" "0" "" "" "" "Case4/Case22" "00047272" "" "" "" "1" "" "01375" "{PMID:Tatton-Brown 2011:22190405}, {PMID:Tatton-Brown 2013:24214728}" "" "F" "" "" "" "0" "" "" "" "Case5/Case23" "00047273" "" "" "" "1" "" "01375" "{PMID:Tatton-Brown 2011:22190405}, {PMID:Tatton-Brown 2013:24214728}" "" "F" "" "" "" "0" "" "" "" "Case6/Case28" "00047274" "" "" "" "1" "" "01375" "{PMID:Tatton-Brown 2011:22190405}, {PMID:Tatton-Brown 2013:24214728}" "" "F" "" "" "" "0" "" "" "" "Case7/Case29" "00047275" "" "" "" "1" "" "01375" "{PMID:Tatton-Brown 2011:22190405}, {PMID:Tatton-Brown 2013:24214728}" "Cancer development" "M" "" "" "" "0" "" "" "" "Case8/Case31" "00047276" "" "" "" "1" "" "01375" "{PMID:Tatton-Brown 2011:22190405}, {PMID:Tatton-Brown 2013:24214728}" "" "F" "" "" "" "0" "" "" "" "Case9/Case33" "00047277" "" "" "" "1" "" "01375" "{PMID:Tatton-Brown 2011:22190405}, {PMID:Tatton-Brown 2013:24214728}" "" "F" "" "" "" "0" "" "" "" "Case10/Case34" "00047278" "" "" "" "1" "" "01375" "{PMID:Tatton-Brown 2011:22190405}, {PMID:Tatton-Brown 2013:24214728}" "" "M" "" "" "" "0" "" "" "" "Case12/Case36" "00047279" "" "" "" "1" "" "01375" "{PMID:Tatton-Brown 2011:22190405}, {PMID:Tatton-Brown 2013:24214728}" "" "F" "" "" "" "0" "" "" "" "Case13/Case38" "00047280" "" "" "" "1" "" "01375" "{PMID:Tatton-Brown 2011:22190405}, {PMID:Tatton-Brown 2013:24214728}" "" "M" "" "" "" "0" "" "" "" "Case14/Case40" "00047281" "" "" "" "1" "" "01375" "{PMID:Tatton-Brown 2011:22190405}, {PMID:Tatton-Brown 2013:24214728}" "Mild intellectual disability?" "F" "" "" "" "0" "" "" "" "Case18/Case43" "00047282" "" "" "" "1" "" "01375" "{PMID:Tatton-Brown 2011:22190405}, {PMID:Tatton-Brown 2013:24214728}" "Cancer development" "M" "" "" "" "0" "" "" "" "Case19/Case45" "00047283" "" "" "" "1" "" "01375" "{PMID:Tatton-Brown 2011:22190405}, {PMID:Tatton-Brown 2013:24214728}" "" "F" "" "" "" "0" "" "" "" "Case16/Case46" "00047285" "" "" "" "1" "" "01375" "{PMID:Tatton-Brown 2013:24214728}" "" "M" "" "" "" "0" "" "" "" "Case44" "00050444" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected father/child" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050513" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected parents" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00081832" "" "" "" "1" "" "01794" "" "" "F" "no" "Japan" "" "0" "" "" "Japanese" "" "00164478" "" "" "" "1" "" "01677" "" "" "F" "no" "" "" "0" "" "" "" "" "00295480" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296379" "" "" "" "1" "" "00006" "{PMID:Choufani 2020:32243864}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "DiscoveryPat8" "00296410" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2013:24214728}" "" "F" "" "" "" "0" "" "" "" "Case1" "00296411" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2013:24214728}" "" "F" "" "" "" "0" "" "" "" "Case2" "00296412" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2013:24214728}" "" "F" "" "" "" "0" "" "" "" "Case3" "00296413" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2013:24214728}" "" "F" "" "" "" "0" "" "" "" "Case4" "00296414" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2013:24214728}" "" "F" "" "" "" "0" "" "" "" "Case6" "00296415" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2013:24214728}" "" "F" "" "" "" "0" "" "" "" "Case7" "00296416" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2013:24214728}" "" "M" "" "" "" "0" "" "" "" "Case8" "00296417" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2013:24214728}" "" "F" "" "" "" "0" "" "" "" "Case9" "00296418" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2011:22190405}, {PMID:Tatton-Brown 2013:24214728}" "" "F" "" "" "" "0" "" "" "" "Case2/Case10" "00296419" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2013:24214728}" "" "F" "" "" "" "0" "" "" "" "Case11" "00296420" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2013:24214728}" "" "M" "" "" "" "0" "" "" "" "Case12" "00296421" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2013:24214728}" "" "M" "" "" "" "0" "" "" "" "Case13" "00296422" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2013:24214728}" "" "M" "" "" "" "0" "" "" "" "Case14" "00296423" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2013:24214728}" "" "F" "" "" "" "0" "" "" "" "Case15" "00296424" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2013:24214728}" "" "F" "" "" "" "0" "" "" "" "Case16" "00296425" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2013:24214728}" "" "F" "" "" "" "0" "" "" "" "Case17" "00296426" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2013:24214728}" "" "M" "" "" "" "0" "" "" "" "Case18" "00296427" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2013:24214728}" "" "F" "" "" "" "0" "" "" "" "Case20" "00296428" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2013:24214728}" "" "M" "" "" "" "0" "" "" "" "Case21" "00296429" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2013:24214728}" "" "F" "" "" "" "0" "" "" "" "Case24" "00296430" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2013:24214728}" "" "F" "" "" "" "0" "" "" "" "Case25" "00296431" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2013:24214728}" "" "M" "" "" "" "0" "" "" "" "Case26" "00296432" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2013:24214728}" "" "M" "" "" "" "0" "" "" "" "Case27" "00296433" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2013:24214728}" "" "F" "" "" "" "0" "" "" "" "Case30" "00296434" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2013:24214728}" "" "M" "" "" "" "0" "" "" "" "Case32" "00296435" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2011:22190405}, {PMID:Tatton-Brown 2013:24214728}" "" "M" "" "" "" "0" "" "" "" "Case11/Case35" "00296436" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2013:24214728}" "" "M" "" "" "" "0" "" "" "" "Case37" "00296437" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2013:24214728}" "" "F" "" "" "" "0" "" "" "" "Case39" "00296438" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2013:24214728}" "" "F" "" "" "" "0" "" "" "" "Case41" "00296439" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2013:24214728}" "" "F" "" "" "" "0" "" "" "" "Case42" "00296440" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2011:22190405}, {PMID:Tatton-Brown 2013:24214728}" "" "M" "" "" "" "0" "" "" "" "Case15/Case47" "00296441" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2013:24214728}" "" "M" "" "" "" "0" "" "" "" "Case48" "00296454" "" "" "" "1" "" "00006" "{PMID:Imagawa 2017:28229514}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Japan" "" "0" "" "" "" "Fam1PatII1" "00306142" "" "" "" "1" "" "03695" "" "" "F" "" "China" "" "" "" "" "" "78" "00311444" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "263342" "00311445" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "259150" "00315015" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1362" "00331431" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "no" "" "" "0" "" "" "Arab" "10DG1554" "00450229" "" "" "" "2" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "family, affected father/child" "" "" "United States" "" "0" "" "" "" "COG1773" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 131 "{{individualid}}" "{{diseaseid}}" "00035718" "00198" "00035720" "00198" "00035721" "00198" "00035723" "00198" "00035724" "00133" "00035727" "00133" "00035729" "00198" "00047205" "00539" "00047206" "00539" "00047207" "00539" "00047208" "02746" "00047209" "00198" "00047210" "00198" "00047211" "00704" "00047212" "00704" "00047213" "00198" "00047214" "00198" "00047215" "00198" "00047216" "02746" "00047217" "00198" "00047218" "00198" "00047219" "00198" "00047220" "00704" "00047221" "00704" "00047222" "00198" "00047223" "02746" "00047224" "01578" "00047225" "00704" "00047226" "00704" "00047227" "02746" "00047228" "01578" "00047229" "00198" "00047230" "04309" "00047231" "00704" "00047232" "00198" "00047233" "00704" "00047234" "04309" "00047235" "00198" "00047236" "00704" "00047237" "00704" "00047238" "02694" "00047239" "02746" "00047240" "00704" "00047241" "02746" "00047242" "00198" "00047243" "02746" "00047244" "00704" "00047245" "00704" "00047246" "02746" "00047247" "03231" "00047248" "00198" "00047249" "00198" "00047250" "00198" "00047251" "00198" "00047252" "00198" "00047253" "00198" "00047254" "00198" "00047255" "00198" "00047256" "00198" "00047257" "03231" "00047258" "00198" "00047259" "00198" "00047260" "00133" "00047261" "00133" "00047262" "00133" "00047263" "00133" "00047264" "00133" "00047265" "00133" "00047266" "00133" "00047267" "00198" "00047268" "00198" "00047269" "00133" "00047270" "00133" "00047271" "00133" "00047272" "00133" "00047273" "00133" "00047274" "00133" "00047275" "00133" "00047276" "00133" "00047277" "00133" "00047278" "00133" "00047279" "00133" "00047280" "00133" "00047281" "00133" "00047282" "00133" "00047283" "00133" "00047285" "00133" "00050444" "00198" "00050513" "00198" "00164478" "00133" "00295480" "00198" "00296379" "00133" "00296410" "00133" "00296411" "00133" "00296412" "00133" "00296413" "00133" "00296414" "00133" "00296415" "00133" "00296416" "00133" "00296417" "00133" "00296418" "00133" "00296419" "00133" "00296420" "00133" "00296421" "00133" "00296422" "00133" "00296423" "00133" "00296424" "00133" "00296425" "00133" "00296426" "00133" "00296427" "00133" "00296428" "00133" "00296429" "00133" "00296430" "00133" "00296431" "00133" "00296432" "00133" "00296433" "00133" "00296434" "00133" "00296435" "00133" "00296436" "00133" "00296437" "00133" "00296438" "00133" "00296439" "00133" "00296440" "00133" "00296441" "00133" "00296454" "00198" "00306142" "00133" "00311444" "00198" "00311445" "00198" "00315015" "00198" "00331431" "05517" "00450229" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00133, 00139, 00198, 00539, 00704, 00929, 01578, 02694, 02746, 03231, 04309, 05517 ## Count = 129 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Growth}}" "{{Phenotype/Hypotonia/Muscular/Generalized}}" "{{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}}" "0000034358" "00133" "00035727" "01164" "Unknown" "" "suspected Weaver-Syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034359" "00198" "00035729" "01164" "Unknown" "" "developmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034360" "00198" "00035723" "01164" "Unknown" "" "somatomegaly, macrocephaly, psychomotoric retardation" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034361" "00198" "00035721" "01164" "Unknown" "" "developmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034362" "00198" "00035720" "01164" "Unknown" "" "developmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034363" "00198" "00035718" "01164" "Unknown" "" "developmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034364" "00133" "00035724" "01164" "Unknown" "" "suspected Weaver-Syndrom, combined developmental delay, adipositas, macrocephaly" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034567" "00539" "00047205" "00004" "Unknown" "" "BCS" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034568" "00539" "00047206" "00004" "Unknown" "" "BCS" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034569" "00539" "00047207" "00004" "Unknown" "" "BCS" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034570" "02746" "00047208" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034571" "00198" "00047209" "00004" "Unknown" "" "RA, refractory anemia" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034572" "00198" "00047210" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034573" "00704" "00047211" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034574" "00704" "00047212" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034575" "00198" "00047213" "00004" "Unknown" "" "MDS/MPN-U, myelodysplastic-myeloproliferative unclassified" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034576" "00198" "00047214" "00004" "Unknown" "" "RARS, refractory anemia with ring sideroblasts" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034577" "00198" "00047215" "00004" "Unknown" "" "RAEB, refractory anemia with excess blasts" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034578" "02746" "00047216" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034579" "00198" "00047217" "00004" "Unknown" "" "5Q-syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034580" "00198" "00047218" "00004" "Unknown" "" "RAEB, refractory anemia with excess blasts" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034581" "00198" "00047219" "00004" "Unknown" "" "RA, refractory anemia" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034582" "00704" "00047220" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034583" "00704" "00047221" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034584" "00198" "00047222" "00004" "Unknown" "" "MDS/MPN-U, myelodysplastic-myeloproliferative unclassified" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034585" "02746" "00047223" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034586" "01578" "00047224" "00004" "Unknown" "" "Myelofibrosis (HP:0011974)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034587" "00704" "00047225" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034588" "00704" "00047226" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034589" "02746" "00047227" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034590" "01578" "00047228" "00004" "Unknown" "" "Myelofibrosis (HP:0011974)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034591" "00198" "00047229" "00004" "Unknown" "" "RA, refractory anemia" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034592" "04309" "00047230" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034593" "00704" "00047231" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034594" "00198" "00047232" "00004" "Unknown" "" "MDS/MPN-U, myelodysplastic-myeloproliferative unclassified" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034595" "00704" "00047233" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034596" "04309" "00047234" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034597" "00198" "00047235" "00004" "Unknown" "" "RA, refractory anemia" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034598" "00704" "00047236" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034599" "00704" "00047237" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034600" "02694" "00047238" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034601" "02746" "00047239" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034602" "00704" "00047240" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034603" "02746" "00047241" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034604" "00198" "00047242" "00004" "Unknown" "" "RA, refractory anemia" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034605" "02746" "00047243" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034606" "00704" "00047244" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034607" "00704" "00047245" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034608" "02746" "00047246" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034609" "03231" "00047247" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034610" "00198" "00047248" "00004" "Unknown" "" "DLBCL, Diffuse large B-cell lymphoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034611" "00198" "00047249" "00004" "Unknown" "" "DLBCL, Diffuse large B-cell lymphoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034612" "00198" "00047250" "00004" "Unknown" "" "DLBCL, Diffuse large B-cell lymphoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034613" "00198" "00047251" "00004" "Unknown" "" "DLBCL, Diffuse large B-cell lymphoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034614" "00198" "00047252" "00004" "Unknown" "" "Lymphoma cell line" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034615" "00198" "00047253" "00004" "Unknown" "" "Lymphoma cell line" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034616" "00198" "00047254" "00004" "Unknown" "" "Lymphoma cell line" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034617" "00198" "00047255" "00004" "Unknown" "" "Lymphoma cell line" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034618" "00198" "00047256" "00004" "Unknown" "" "Lymphoma cell line" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034619" "03231" "00047257" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034620" "00198" "00047258" "00004" "Unknown" "" "DLBCL, Diffuse large B-cell lymphoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034621" "00198" "00047259" "00004" "Unknown" "" "RA, refractory anemia" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034622" "00133" "00047260" "00079" "Isolated (sporadic)" "" "Accelerated osseous maturation Hypertonia Hoarse, low-pitched cry Intellectual disability (Mild) Excessive appetite Ventriculomegaly Seizures (Tonic-Clonic) Poor fine motor coordination Poor balance and gravitational insecurity Macrocephaly Large bifrontal diameter Flat occiput Large ears Ocular hypertelorism Downslanted palpebral fissures Long philtrum Retrognathia Prominent digit pads Camptodactyly Broad thumbs Thin, deep-set nails Clinodactyly, toes Talipes equinovarus Short fourth metatarsals Limited elbow and knee extension Widened distal femurs and ulnas Excessive loose skin Inverted nipples Thin hair Umbilical hernia Inguinal hernia Scoliosis (degrees) Hypothyroidism Growth hormone deficiency" "" "overgrowth prenatal" "" "" "" "" "" "" "" "" "" "" "" "0000034623" "00133" "00047261" "01375" "Isolated (sporadic)" "" "Accelerated osseous maturation Hoarse, low-pitched cry Intellectual disability (bordeline-mild) Excessive appetite Poor fine motor coordination Poor balance and gravitational insecurity Macrocephaly Large bifrontal diameter Large ears Ocular hypertelorism Downslanted palpebral fissures Long philtrum Retrognathia Prominent digit pads Camptodactyly Broad thumbs Thin, deep-set nails Clinodactyly, toes Excessive loose skin Increased pigmented nevi Umbilical hernia Scoliosis (10 degrees)" "" "overgrowth prenatal" "hypotonia" "" "" "" "" "" "" "" "" "" "" "0000034624" "00133" "00047262" "01375" "Isolated (sporadic)" "" "Accelerated osseous maturation Hoarse, low-pitched cry Intellectual disability (mild) Delayed myelination Cerebellar hypoplasia (mild) Seizures (brief absence at 15 years) Poor fine motor coordination Poor balance and gravitational insecurity Fatty filum terminale Macrocephaly Large bifrontal diameter Flat occiput Large ears Downslanted palpebral fissures Long philtrum Retrognathia Patent ductus arteriosus Prominent digit pads Thin, deep-set nails Hind foot valgus Limited elbow and knee extension in early life Limited elbow and knew extension after puberty Increased pigmented nevi Umbilical hernia Scoliosis (16 degrees)" "" "overgrowth prenatal" "hypotonia" "" "" "" "" "" "" "" "" "" "" "0000034625" "00133" "00047263" "01375" "Isolated (sporadic)" "" "Accelerated osseous maturation Hypertonia in knees Hoarse, low-pitched cry Intellectual disability Poor fine motor coordination Poor balance and gravitational insecurity Macrocephaly Large bifrontal diameter Flat occiput Large ears with hearing loss Ocular hypertelorism Downslanted palpebral fissures Long philtrum Micrognathia Patent ductus arteriosus Ventricular septal defect Prominent digit pads Single transverse palmar crease Clinodactyly, toes Talipes equinovarus Limited elbow and knee extension in early life Widened distal femurs and ulnas Excessive loose skin Hypoplastic/supernumerary nipples Increased pigmented nevi Umbilical hernia Diastasis recti Kyphosis Hypoglycemia, perinatal euroblastoma at birth, resolved" "" "overgrowth prenatal" "" "" "" "" "" "" "" "" "" "" "" "0000034626" "00133" "00047264" "01375" "Isolated (sporadic)" "" "Accelerated osseous maturation Hypertonia, peripheral abdominal Hoarse, low-pitched cry Intellectual disability Excessive appetite Seizures (1 GTC febrile-associated around 9 months) Polymicrogyria (asymmetric perisylvian) Poor fine motor coordination Poor balance and gravitational insecurity Flat occiput Large ears Ocular hypertelorism Downslanted palpebral fissures Micrognathia Single transverse palmar crease Thin, deep-set nails Limited elbow and knee extension in early life Excessive loose skin Hypoplastic/supernumerary nipples Scoliosis (mild, resolved) Hypoglycemia at birth, resolved" "" "overgrowth prenatal" "hypotonia" "" "" "" "" "" "" "" "" "" "" "0000034627" "00133" "00047265" "01375" "Isolated (sporadic)" "" "Accelerated osseous maturation Hoarse, low-pitched cry Intellectual disability Poor fine motor coordination Poor balance and gravitational insecurity Macrocephaly Large bifrontal diameter Flat occiput Large ears Ocular hypertelorism Downslanted palpebral fissures Long philtrum Micrognathia Prominent digit pads Camptodactyly Thin, deep-set nails Excessive loose skin Hypoplastic/supernumerary nipples Umbilical hernia Kyphosis euroblastoma, prenatal" "" "overgrowth prenatal" "hypotonia" "" "" "" "" "" "" "" "" "" "" "0000034628" "00133" "00047266" "01375" "Isolated (sporadic)" "" "Hypertonia Large bifrontal diameter Flat occiput Large ears Ocular hypertelorism Downslanted palpebral fissures Micrognathia Prominent digit pads Single transverse palmar crease Umbilical hernia Diastasis recti" "" "overgrowth prenatal" "" "" "" "" "" "" "" "" "" "" "" "0000034629" "00198" "00047267" "01375" "Familial" "" "Intellectual disability Poor fine motor coordination Poor balance and gravitational insecurity Macrocephaly Large bifrontal diameter Flat occiput Ocular hypertelorism Broad thumbs Short fourth metatarsals Hind foot valgus Limited elbow and knee extension Umbilical hernia Scoliosis (mild)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034630" "00198" "00047268" "01375" "Familial" "" "Accelerated osseous maturation Hoarse, low-pitched cry Intellectual disability Excessive appetite Poor fine motor coordination Large bifrontal diameter Large ears Ocular hypertelorism Downslanted palpebral fissures Long philtrum Prominent digit pads Camptodactyly Broad thumbs Thin, deep-set nails Clinodactyly, toes Umbilical hernia" "" "overgrowth prenatal" "hypotonia" "" "" "" "" "" "" "" "" "" "" "0000034631" "00133" "00047269" "01375" "Isolated (sporadic)" "" "Height +2.2 SD, Head circumference + 0.3 SD, Mild intellectual disability, Birth weight +0.7 SD, Birth length +2 SD, Doughy skin, Advanced bone age,Talipes, Scoliosis, Pectus carinatum" "" "" "hypotonia" "" "" "" "" "" "" "" "" "" "" "0000034632" "00133" "00047270" "01375" "Isolated (sporadic)" "" "Height +2.6 SD, Head circumference + 2.3 SD, Mild intellectual disability, Birth weight +1.3 SD, Birth length + 4.9 SD, Camptodactyly, Doughy skin, Umbilical hernia, Advanced bone age, Fusion of C2/3, Pectus Excavatum" "" "" "hypotonia" "" "" "" "" "" "" "" "" "" "" "0000034633" "00133" "00047271" "01375" "Isolated (sporadic)" "" "Height +3.6 SD, Head circumference + 3.2 SD, Birth weight +1.4 SD, Camptodactyly, \"\"boutonniere \"" "" "\"{PMID24214728:Tatton-Brown 2013}" "" "" "" "" "" "" "" "" "" "" "" "0000034634" "00133" "00047272" "01375" "Isolated (sporadic)" "" "Height +6 SD, Head circumference + 4.9 SD, Moderate intellectual disability, Birth weight +3.5 SD, \"\"boutonniere \"\", Epilepsy, Pectus excavatum" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034635" "00133" "00047273" "01375" "Isolated (sporadic)" "" "Height +5 SD, Head circumference + 3 SD, Mild intellectual disability, Birth weight +1.5 SD, Hypertonia, Camptodactyly, Doughy skin, Umbilical hernia, Advanced bone age, Mitral valve prolapse, Cavum septum pellucidum, Clinodactyly" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034636" "00133" "00047274" "01375" "Unknown" "" "Height +3.8 SD, Head circumference + 3.2 SD, Moderate intellectual disability, Birth weight +0.1 SD, Birth length +2.3 SD, Hypertonia, Camptodactyly, Umbilical hernia, Advanced bone age" "" "" "hypotonia" "" "" "" "" "" "" "" "" "" "" "0000034637" "00133" "00047275" "01375" "Isolated (sporadic)" "" "Height +4.2 SD, Head circumference +1.8 SD, Mild intellectual disability, Birth weight -0.4 SD, Birth length +1.5 SD, Hypertonia, Doughy skin, Advanced bone age, Hypospadias, Cerebral ventriculomegaly, NEUROBLASTOMA (onset 13m), ACUTE LYMPHOBLASTIC LEUKEMIA (onset 13m)" "" "" "hypotonia" "" "" "" "" "" "" "" "" "" "" "0000034638" "00133" "00047276" "01375" "Isolated (sporadic)" "" "Height +2.9 SD, Mild intellectual disability, Advanced bone age, Median cleft palate, Strabismus" "" "" "hypotonia" "" "" "" "" "" "" "" "" "" "" "0000034639" "00133" "00047277" "01375" "Unknown" "" "Height +3.5 SD, Head circumference +1.5 SD, Birth weight +2.2 SD, Conductive hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034640" "00133" "00047278" "01375" "Unknown" "" "Height +5.6 SD, Head circumference +1.7 SD, Mild intellectual disability, Birth weight +3.4 SD, Clinodactyly" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034641" "00133" "00047279" "01375" "Isolated (sporadic)" "" "Height +5 SD, Head circumference + 1.8 SD, Mild intellectual disability, Birth weight +2.9 SD, Camptodactyly, Doughy skin, \"\"boutonniere \"\", Ventricular septal defect" "" "" "hypotonia" "" "" "" "" "" "" "" "" "" "" "0000034642" "00133" "00047280" "01375" "Isolated (sporadic)" "" "Height +7.6 SD, Head circumference +2.7 SD, Birth weight +3.8 SD, Camptodactyly, Doughy skin, Umbilical hernia" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034643" "00133" "00047281" "01375" "Isolated (sporadic)" "" "Height +5.3 SD, Head circumference +2 SD, Birth weight +4.6 SD, Camptodactyly, Umbilical hernia, Advanced bone age" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034644" "00133" "00047282" "01375" "Isolated (sporadic)" "" "Height +3.5 SD, Head circumference +1.8 SD, Mild to moderate intellectual disability, Birth weight +0.6 SD, Birth length +0.5 SD, Hypertonia, Strabismus, Scoliosis, Talipes, NON-HODGKINS LYMPHOMA (onset at 13y)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034645" "00133" "00047283" "01375" "Isolated (sporadic)" "" "Height +4.6 SD, Head circumference +2.2 SD, Moderate intellectual disability, Hypertonia, Camptodactyly, Doughy skin, Advanced bone age, Clinodactyly" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034647" "00133" "00047285" "01375" "Unknown" "" "Height +3.3 SD, Head circumference +3 SD, Mild intellectual disability, Birth weight +3.8 SD, Camptodactyly, Advanced bone age" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037056" "00198" "00050444" "00006" "Unknown" "" "global developmental delay, arachnodactyly, hyperextensibility of the finger joints, hemangioma, broad forehead, tall stature, prominent umbilicus, large for gestational age, large hands" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037125" "00198" "00050513" "00006" "Unknown" "" "fetal ascites, generalized hypotonia, delayed gross motor development, delayed speech and language development, macrocephaly, slender finger, muscle weakness" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223793" "00133" "00296379" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223823" "00133" "00296410" "00006" "Familial, autosomal dominant" "" "birth weight +2.6 SD, OFC +5.5 SD, current height +4.5 SD; mild intellectual disability; no hypertonia; hypotonia; no camptodactyly; no doughy skin; no umbilical hernia; no tumor; advanced bone age; periventricular leukomalacia, clinodactyly" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223824" "00133" "00296411" "00006" "Familial, autosomal dominant" "" "OFC +1.9 SD, current height +3.3 SD; no intellectual disability; no hypertonia; hypotonia; no camptodactyly; no doughy skin; no umbilical hernia; no tumor;" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223825" "00133" "00296412" "00006" "Familial, autosomal dominant" "" "OFC +2.5 SD, current height +0.1 SD; no intellectual disability; no hypertonia; no hypotonia; no camptodactyly; no doughy skin; no umbilical hernia; no tumor; hypertension" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223826" "00133" "00296413" "00006" "Unknown" "" "birth weight +1.8 SD, OFC +3.6 SD, current height -0.7 SD; mild intellectual disability; hypertonia; hypotonia; camptodactyly; doughy skin; umbilical hernia; no tumor; scoliosis, idiopathic thrombocytopenic purpura" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223827" "00133" "00296414" "00006" "Isolated (sporadic)" "" "birth weight +2 SD, OFC +2.1 SD, current height +2.7 SD; moderate intellectual disability; hypotonia; no camptodactyly; doughy skin; no umbilical hernia; no tumor; advanced bone age;" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223828" "00133" "00296415" "00006" "Unknown" "" "birth weight +4.2 SD, length +4.2 SD, OFC +2.9 SD, current height +4.2 SD; severe intellectual disability; hypertonia; hypotonia; camptodactyly; doughy skin; umbilical hernia; no tumor; advanced bone age; scoliosis, clinodactyly, “boutonniere”" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223829" "00133" "00296416" "00006" "Isolated (sporadic)" "" "birth weight +1.8 SD, OFC +0.8 SD, current height +2 SD; mild intellectual disability; no hypertonia; no hypotonia; no camptodactyly; no doughy skin; no umbilical hernia; no tumor; advanced bone age; strabismus" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223830" "00133" "00296417" "00006" "Isolated (sporadic)" "" "birth weight +0.7 SD, OFC +0.4 SD, current height +3.5 SD; moderate intellectual disability; no hypertonia; hypotonia; camptodactyly; doughy skin; umbilical hernia; no tumor; 2/3 toe syndactyly, cerebellar infarct" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223831" "00133" "00296418" "00006" "Familial, autosomal dominant" "" "birth weight +1.3 SD, length +3.9 SD, OFC +1.5 SD, current height +3.4 SD; mild intellectual disability; no hypertonia; no hypotonia; umbilical hernia; no tumor; advanced bone age; conductive hearing loss" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223832" "00133" "00296419" "00006" "Familial, autosomal dominant" "" "no tumor;" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223833" "00133" "00296420" "00006" "Familial, autosomal dominant" "" "birth weight +1.1 SD, length +1.8 SD, OFC +1.6 SD, current height +2 SD; mild intellectual disability; no hypertonia; no hypotonia; camptodactyly; umbilical hernia; no tumor; talipes" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223834" "00133" "00296421" "00006" "Familial, autosomal dominant" "" "birth weight -0.6 SD, length +1.1 SD, OFC +1.3 SD, current height +3.7 SD; moderate intellectual disability; no hypertonia; no hypotonia; umbilical hernia; no tumor;" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223835" "00133" "00296422" "00006" "Familial, autosomal dominant" "" "mild intellectual disability; no tumor; R shoulder dislocation" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223836" "00133" "00296423" "00006" "Familial, autosomal dominant" "" "current height +4 SD; no intellectual disability; no tumor;" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223837" "00133" "00296424" "00006" "Unknown" "" "birth weight +2.8 SD, length +2.6 SD, OFC +2.4 SD, current height +3.9 SD; hypotonia; no tumor;" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223838" "00133" "00296425" "00006" "Familial, autosomal dominant" "" "birth weight -1.6 SD, OFC +0.3 SD, current height +2 SD; moderate intellectual disability; no hypertonia; no hypotonia; no camptodactyly; doughy skin; no umbilical hernia; no tumor; advanced bone age; cone shaped epiphyses" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223839" "00133" "00296426" "00006" "Familial, autosomal dominant" "" "OFC +0.6 SD, current height +1.2 SD; no intellectual disability; no hypertonia; no hypotonia; no camptodactyly; no umbilical hernia; no tumor;" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223840" "00133" "00296427" "00006" "Unknown" "" "birth weight +2.1 SD, OFC +0.4 SD, current height +6.9 SD; no tumor; advanced bone age;" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223841" "00133" "00296428" "00006" "Unknown" "" "birth weight +0.9 SD, length +2 SD, current height +3 SD; moderate intellectual disability; no tumor; advanced bone age; febrile seizures, ventriculomeg" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223842" "00133" "00296429" "00006" "Isolated (sporadic)" "" "birth weight +0.4 SD, OFC -1.5 SD, current height +2.2 SD; mild intellectual disability; no hypertonia; no hypotonia; no camptodactyly; doughy skin; umbilical hernia; no tumor; advanced bone age; talipes, clinodactyly" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223843" "00133" "00296430" "00006" "Isolated (sporadic)" "" "birth weight +2.3 SD, length +2 SD, OFC +2.3 SD, current height +5.2 SD; mild intellectual disability; no hypertonia; no hypotonia; no camptodactyly; doughy skin; umbilical hernia; no tumor; advanced bone age;" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223844" "00133" "00296431" "00006" "Familial, autosomal dominant" "" "birth weight +0.7 SD, length +0.7 SD, OFC +1.2 SD, current height +2.3 SD; mild intellectual disability; no hypertonia; hypotonia; no camptodactyly; no doughy skin; umbilical hernia; no tumor; advanced bone age; neonatal hypocalcemia, ventriculomeg" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223845" "00133" "00296432" "00006" "Familial, autosomal dominant" "" "birth weight +1.7 SD, length +3 SD, OFC +0.3 SD, current height +2 SD; no intellectual disability; no hypertonia; no hypotonia; no camptodactyly; no doughy skin; no umbilical hernia; no tumor;" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223846" "00133" "00296433" "00006" "Isolated (sporadic)" "" "birth weight +0.9 SD, length +2.2 SD, OFC +4 SD, current height +4.4 SD; moderate intellectual disability; hypertonia; no hypotonia; camptodactyly; doughy skin; no umbilical hernia; no tumor; advanced bone age; submucous cleft palate" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223847" "00133" "00296434" "00006" "Unknown" "" "birth weight +0.3 SD, length -0.5 SD, OFC +3.4 SD, current height +2.4 SD; mild intellectual disability; no tumor; advanced bone age; immune deficiency" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223848" "00133" "00296435" "00006" "Isolated (sporadic)" "" "birth weight +1.9 SD, OFC +2.6 SD, current height +2.7 SD; no intellectual disability; no hypertonia; hypotonia; no camptodactyly; no doughy skin; no umbilical hernia; no tumor; advanced bone age; talipes, strabismus, scoliosis" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223849" "00133" "00296436" "00006" "Isolated (sporadic)" "" "birth weight +0.8 SD, length +3 SD, OFC +1.4 SD, current height +3.8 SD; moderate intellectual disability; no hypertonia; hypotonia; no camptodactyly; no doughy skin; no umbilical hernia; no tumor; cryptorchidism, clinodactyly" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223850" "00133" "00296437" "00006" "Isolated (sporadic)" "" "birth weight +1.1 SD, OFC +1.9 SD, current height +3.2 SD; no hypertonia; hypotonia; no camptodactyly; doughy skin; umbilical hernia; no tumor; ventriculomeg, clinodactyly, ventricular septal defect" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223851" "00133" "00296438" "00006" "Isolated (sporadic)" "" "birth weight +2.3 SD, OFC +3 SD, current height +4.2 SD; mild intellectual disability; no hypertonia; hypotonia; no camptodactyly; doughy skin; umbilical hernia; no tumor; advanced bone age;" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223852" "00133" "00296439" "00006" "Isolated (sporadic)" "" "birth weight -1.1 SD, length -0.1 SD, OFC +1.6 SD, current height +1.5 SD; moderate intellectual disability; hypertonia; no hypotonia; camptodactyly; no doughy skin; no umbilical hernia; no tumor; advanced bone age; scoliosis, ventriculomeg, periventricular leukomalacia, clinodactyly" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223853" "00133" "00296440" "00006" "Unknown" "" "OFC +4.5 SD, current height +4.1 SD; mild intellectual disability; hypertonia; no hypotonia; camptodactyly; no doughy skin; umbilical hernia; no tumor; “boutonniere”, pectus excavatum, hydrocele" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223854" "00133" "00296441" "00006" "Unknown" "" "birth weight +3.2 SD, OFC -0.9 SD; severe intellectual disability; hypertonia; no hypotonia; camptodactyly; no doughy skin; no umbilical hernia; no tumor; talipes,scoliosis, pachy- and polymicrogyria" "" "" "" "" "" "" "" "" "" "" "WVS" "Weaver syndrome" "" "0000223865" "00198" "00296454" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "IMMAS" "Weaver syndrome" "" "0000231986" "00133" "00306142" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236690" "00198" "00311444" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236691" "00198" "00311445" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000238767" "00198" "00315015" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Weaver syndrome" "chromatinopathy" "" "0000249623" "05517" "00331431" "00000" "Familial, autosomal dominant" "" "Muscular hypotonia of the trunk, Limb hypertonia, Small anterior fontanelle, Microretrog No" "" "" "" "" "" "" "" "" "" "" "Overgrowth (tall stature) syndromes with skeletal involvement)" "skeletal dysplasia" "" "0000339289" "00198" "00450229" "00006" "Familial, autosomal dominant" "9y" "overgrowth height; moderate intellectual disability;" "" "" "" "" "" "" "" "" "" "" "" "overgrowth" "" ## Screenings ## Do not remove or alter this header ## ## Count = 137 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000035788" "00035718" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035789" "00035719" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035790" "00035720" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035791" "00035721" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035792" "00035722" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035793" "00035723" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035794" "00035724" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035795" "00035725" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035796" "00035726" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035797" "00035727" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035798" "00035728" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035799" "00035729" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000047304" "00047205" "2" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047305" "00047206" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047306" "00047207" "2" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047307" "00047208" "2" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047308" "00047209" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047309" "00047210" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047310" "00047211" "2" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047311" "00047212" "2" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047312" "00047213" "2" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047313" "00047214" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047314" "00047215" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047315" "00047216" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047316" "00047217" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047317" "00047218" "2" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047318" "00047219" "2" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047319" "00047220" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047320" "00047221" "2" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047321" "00047222" "2" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047322" "00047223" "2" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047323" "00047224" "2" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047324" "00047225" "2" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047325" "00047226" "2" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047326" "00047227" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047327" "00047228" "2" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047328" "00047229" "2" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047329" "00047230" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047330" "00047231" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047331" "00047232" "2" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047332" "00047233" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047333" "00047234" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047334" "00047235" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047335" "00047236" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047336" "00047237" "2" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047337" "00047238" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047338" "00047239" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047339" "00047240" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047340" "00047241" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047341" "00047242" "2" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047342" "00047243" "2" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047343" "00047244" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047344" "00047245" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047345" "00047246" "2" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047346" "00047247" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ" "DNA;RNA" "" "" "0000047347" "00047248" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ" "DNA;RNA" "" "" "0000047348" "00047249" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ" "DNA;RNA" "" "" "0000047349" "00047250" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ" "DNA;RNA" "" "" "0000047350" "00047251" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ" "DNA;RNA" "" "" "0000047351" "00047252" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ" "DNA;RNA" "" "" "0000047352" "00047253" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ" "DNA;RNA" "" "" "0000047353" "00047254" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ" "DNA;RNA" "" "" "0000047354" "00047255" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ" "DNA;RNA" "" "" "0000047355" "00047256" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ" "DNA;RNA" "" "" "0000047356" "00047257" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ" "DNA;RNA" "" "" "0000047357" "00047258" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ" "DNA;RNA" "" "" "0000047358" "00047259" "1" "00004" "00008" "2015-08-10 14:03:19" "" "" "SEQ;MCA" "DNA" "" "" "0000047359" "00047260" "1" "00079" "00008" "2015-08-10 14:03:19" "" "" "SEQ-NG-I" "DNA" "" "" "0000047360" "00047261" "1" "01375" "00008" "2015-08-10 14:03:19" "" "" "SEQ" "DNA" "" "" "0000047361" "00047262" "1" "01375" "00008" "2015-08-10 14:03:19" "" "" "SEQ" "DNA" "" "" "0000047362" "00047263" "1" "01375" "00008" "2015-08-10 14:03:19" "" "" "SEQ" "DNA" "" "" "0000047363" "00047264" "1" "01375" "00008" "2015-08-10 14:03:19" "" "" "SEQ" "DNA" "" "" "0000047364" "00047265" "1" "01375" "00008" "2015-08-10 14:03:19" "" "" "SEQ" "DNA" "" "" "0000047365" "00047266" "1" "01375" "00008" "2015-08-10 14:03:19" "" "" "SEQ" "DNA" "" "" "0000047366" "00047267" "1" "01375" "00008" "2015-08-10 14:03:19" "" "" "SEQ" "DNA" "" "" "0000047367" "00047268" "1" "01375" "00008" "2015-08-10 14:03:19" "" "" "SEQ" "DNA" "" "" "0000047368" "00047269" "1" "01375" "00008" "2015-08-10 14:03:19" "" "" "SEQ" "DNA" "" "" "0000047369" "00047270" "1" "01375" "00008" "2015-08-10 14:03:19" "" "" "SEQ-NG-I" "DNA" "" "" "0000047370" "00047271" "1" "01375" "00008" "2015-08-10 14:03:19" "" "" "SEQ" "DNA" "" "" "0000047371" "00047272" "1" "01375" "00008" "2015-08-10 14:03:19" "" "" "SEQ" "DNA" "" "" "0000047372" "00047273" "1" "01375" "00008" "2015-08-10 14:03:19" "" "" "SEQ" "DNA" "" "" "0000047373" "00047274" "1" "01375" "00008" "2015-08-10 14:03:19" "" "" "SEQ" "DNA" "" "" "0000047374" "00047275" "1" "01375" "00008" "2015-08-10 14:03:19" "" "" "SEQ" "DNA" "" "" "0000047375" "00047276" "1" "01375" "00008" "2015-08-10 14:03:19" "" "" "SEQ-NG-I" "DNA" "" "" "0000047376" "00047277" "1" "01375" "00008" "2015-08-10 14:03:19" "" "" "SEQ-NG-I" "DNA" "" "" "0000047377" "00047278" "1" "01375" "00008" "2015-08-10 14:03:19" "" "" "SEQ-NG-I" "DNA" "" "" "0000047378" "00047279" "1" "01375" "00008" "2015-08-10 14:03:19" "" "" "SEQ" "DNA" "" "" "0000047379" "00047280" "1" "01375" "00008" "2015-08-10 14:03:19" "" "" "SEQ-NG-I" "DNA" "" "" "0000047380" "00047281" "1" "01375" "00008" "2015-08-10 14:03:19" "" "" "SEQ" "DNA" "" "" "0000047381" "00047282" "1" "01375" "00008" "2015-08-10 14:03:19" "" "" "SEQ" "DNA" "" "" "0000047382" "00047283" "1" "01375" "00008" "2015-08-10 14:03:19" "" "" "SEQ-NG-I" "DNA" "" "" "0000047384" "00047285" "1" "01375" "00008" "2015-08-10 14:03:19" "" "" "SEQ" "DNA" "" "" "0000050389" "00050444" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050458" "00050513" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000081966" "00081832" "1" "01794" "01794" "2016-10-26 14:58:12" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "" "0000165344" "00164478" "1" "01677" "01677" "2018-05-24 22:31:12" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" "0000296648" "00295480" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297490" "00296379" "1" "00006" "00006" "2020-04-06 08:55:11" "" "" "SEQ" "DNA" "" "" "0000297520" "00296410" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297521" "00296411" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297522" "00296412" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297523" "00296413" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297524" "00296414" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297525" "00296415" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297526" "00296416" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297527" "00296417" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297528" "00296418" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297529" "00296419" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297530" "00296420" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297531" "00296421" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297532" "00296422" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297533" "00296423" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297534" "00296424" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297535" "00296425" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297536" "00296426" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297537" "00296427" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297538" "00296428" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297539" "00296429" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297540" "00296430" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297541" "00296431" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297542" "00296432" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297543" "00296433" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297544" "00296434" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297545" "00296435" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297546" "00296436" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297547" "00296437" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297548" "00296438" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297549" "00296439" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297550" "00296440" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297551" "00296441" "1" "00006" "00006" "2020-04-06 12:22:29" "" "" "SEQ" "DNA" "" "" "0000297564" "00296454" "1" "00006" "00006" "2020-04-06 15:30:21" "00006" "2020-04-06 15:36:24" "SEQ;SEQ-NG" "DNA" "" "" "0000307272" "00306142" "1" "03695" "03695" "2020-07-08 21:53:45" "" "" "SEQ-NG" "DNA" "" "" "0000312614" "00311444" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312615" "00311445" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000316191" "00315015" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel" "0000332650" "00331431" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000451825" "00450229" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 135 "{{screeningid}}" "{{geneid}}" "0000035788" "EZH2" "0000035789" "EZH2" "0000035790" "EZH2" "0000035791" "EZH2" "0000035792" "EZH2" "0000035793" "EZH2" "0000035794" "EZH2" "0000035795" "EZH2" "0000035796" "EZH2" "0000035797" "EZH2" "0000035798" "EZH2" "0000035799" "EZH2" "0000047304" "EZH2" "0000047305" "EZH2" "0000047306" "EZH2" "0000047307" "EZH2" "0000047308" "EZH2" "0000047309" "EZH2" "0000047310" "EZH2" "0000047311" "EZH2" "0000047312" "EZH2" "0000047313" "EZH2" "0000047314" "EZH2" "0000047315" "EZH2" "0000047316" "EZH2" "0000047317" "EZH2" "0000047318" "EZH2" "0000047319" "EZH2" "0000047320" "EZH2" "0000047321" "EZH2" "0000047322" "EZH2" "0000047323" "EZH2" "0000047324" "EZH2" "0000047325" "EZH2" "0000047326" "EZH2" "0000047327" "EZH2" "0000047328" "EZH2" "0000047329" "EZH2" "0000047330" "EZH2" "0000047331" "EZH2" "0000047332" "EZH2" "0000047333" "EZH2" "0000047334" "EZH2" "0000047335" "EZH2" "0000047336" "EZH2" "0000047337" "EZH2" "0000047338" "EZH2" "0000047339" "EZH2" "0000047340" "EZH2" "0000047341" "EZH2" "0000047342" "EZH2" "0000047343" "EZH2" "0000047344" "EZH2" "0000047345" "EZH2" "0000047346" "EZH2" "0000047347" "EZH2" "0000047348" "EZH2" "0000047349" "EZH2" "0000047350" "EZH2" "0000047351" "EZH2" "0000047352" "EZH2" "0000047353" "EZH2" "0000047354" "EZH2" "0000047355" "EZH2" "0000047356" "EZH2" "0000047357" "EZH2" "0000047358" "EZH2" "0000047359" "EZH2" "0000047360" "EZH2" "0000047361" "EZH2" "0000047362" "EZH2" "0000047363" "EZH2" "0000047364" "EZH2" "0000047365" "EZH2" "0000047366" "EZH2" "0000047367" "EZH2" "0000047368" "EZH2" "0000047369" "EZH2" "0000047370" "EZH2" "0000047371" "EZH2" "0000047372" "EZH2" "0000047373" "EZH2" "0000047374" "EZH2" "0000047375" "EZH2" "0000047376" "EZH2" "0000047377" "EZH2" "0000047378" "EZH2" "0000047379" "EZH2" "0000047380" "EZH2" "0000047381" "EZH2" "0000047382" "EZH2" "0000047384" "EZH2" "0000050389" "EZH2" "0000050458" "EZH2" "0000165344" "EZH2" "0000297490" "EZH2" "0000297520" "EZH2" "0000297521" "EZH2" "0000297522" "EZH2" "0000297523" "EZH2" "0000297524" "EZH2" "0000297525" "EZH2" "0000297526" "EZH2" "0000297527" "EZH2" "0000297528" "EZH2" "0000297529" "EZH2" "0000297530" "EZH2" "0000297531" "EZH2" "0000297532" "EZH2" "0000297533" "EZH2" "0000297534" "EZH2" "0000297535" "EZH2" "0000297536" "EZH2" "0000297537" "EZH2" "0000297538" "EZH2" "0000297539" "EZH2" "0000297540" "EZH2" "0000297541" "EZH2" "0000297542" "EZH2" "0000297543" "EZH2" "0000297544" "EZH2" "0000297545" "EZH2" "0000297546" "EZH2" "0000297547" "EZH2" "0000297548" "EZH2" "0000297549" "EZH2" "0000297550" "EZH2" "0000297551" "EZH2" "0000297564" "CUL1" "0000297564" "EZH2" "0000307272" "EZH2" "0000312614" "EZH2" "0000312615" "EZH2" "0000316191" "EZH2" "0000332650" "EZH2" ## 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 = 202 "{{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}}" "0000062913" "1" "10" "7" "148508833" "148508833" "subst" "0.66769" "01164" "EZH2_000082" "g.148508833A>G" "" "" "" "" "" "Germline" "" "rs2072407" "0" "" "" "g.148811741A>G" "" "benign" "" "0000062914" "1" "50" "7" "148504855" "148504859" "dup" "0" "01164" "EZH2_000085" "g.148504855_148504859dup" "" "" "" "" "" "Germline" "" "rs55877618" "0" "" "" "g.148807763_148807767dup" "" "VUS" "" "0000062915" "1" "10" "7" "148543525" "148543525" "subst" "0.701373" "01164" "EZH2_000080" "g.148543525A>G" "" "" "" "" "" "Germline" "" "rs10274535" "0" "" "" "g.148846433A>G" "" "benign" "" "0000062916" "1" "10" "7" "148543704" "148543704" "del" "0" "01164" "EZH2_000079" "g.148543704del" "" "" "" "" "" "Germline" "" "rs3214332" "0" "" "" "g.148846612del" "" "benign" "" "0000062917" "1" "10" "7" "148543753" "148543753" "subst" "0" "01164" "EZH2_000078" "g.148543753C>T" "up to 0.5%" "" "" "" "" "Germline" "" "rs28723387" "0" "" "" "g.148846661C>T" "" "benign" "" "0000062918" "1" "90" "7" "148581422" "148581422" "dup" "0" "01164" "EZH2_000077" "g.148581422dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.148884330dup" "" "pathogenic" "" "0000062919" "0" "10" "7" "148507538" "148507538" "dup" "0" "01164" "EZH2_000083" "g.148507538dup" "" "" "" "" "" "Germline" "" "rs146223228" "0" "" "" "g.148810446dup" "" "benign" "" "0000062920" "1" "10" "7" "148525904" "148525904" "subst" "0.0781224" "01164" "EZH2_000056" "g.148525904C>G" "" "" "" "" "" "Germline" "" "rs2302427" "0" "" "" "g.148828812C>G" "" "benign" "" "0000062921" "1" "10" "7" "148529922" "148529922" "subst" "0" "01164" "EZH2_000081" "g.148529922C>T" "" "" "" "" "" "Germline" "" "rs17552167" "0" "" "" "g.148832830C>T" "" "benign" "" "0000062922" "1" "90" "7" "148526846" "148526846" "subst" "0" "01164" "EZH2_000075" "g.148526846T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.148829754T>C" "" "pathogenic" "" "0000062923" "1" "10" "7" "148506363" "148506363" "subst" "0.0806687" "01164" "EZH2_000084" "g.148506363T>G" "" "" "" "" "" "Germline" "" "rs10268879" "0" "" "" "g.148809271T>G" "" "benign" "" "0000062924" "1" "10" "7" "148504722" "148504722" "del" "0" "01164" "EZH2_000076" "g.148504722del" "" "" "" "" "c.2256+21delC" "Germline" "" "rs3217095" "0" "" "" "g.148807630del" "" "benign" "" "0000075973" "1" "75" "7" "0" "0" "" "0" "00004" "EZH2_000057" "g.?" "" "{PMID:Morin 2010:20081860}" "" "Asn635" "" "Somatic" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000075974" "1" "75" "7" "0" "0" "" "0" "00004" "EZH2_000001" "g.?" "" "{PMID:Morin 2010:20081860}" "" "Asn635" "" "Somatic" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000075975" "0" "95" "7" "148508728" "148508728" "subst" "0" "00004" "EZH2_000013" "g.148508728A>T" "" "{PMID:Morin 2010:20081860}" "" "Chr.7:148139661T>A, Tyr641Asn" "" "Somatic" "" "" "0" "" "" "g.148811636A>T" "" "pathogenic" "" "0000075976" "0" "95" "7" "148508728" "148508728" "subst" "0" "00004" "EZH2_000013" "g.148508728A>T" "" "{PMID:Morin 2010:20081860}" "" "Chr.7:148139660A>C, Tyr641Ser" "" "Somatic" "" "" "0" "" "" "g.148811636A>T" "" "pathogenic" "" "0000075977" "0" "95" "7" "148508728" "148508728" "subst" "0" "00004" "EZH2_000014" "g.148508728A>G" "" "{PMID:Morin 2010:20081860}" "" "Chr.7:148139661T>C, Tyr641His" "" "Somatic" "" "" "0" "" "" "g.148811636A>G" "" "pathogenic" "" "0000075978" "0" "95" "7" "148508728" "148508728" "subst" "0" "00004" "EZH2_000014" "g.148508728A>G" "" "{PMID:Morin 2010:20081860}" "" "Chr.7:148139661T>C, Tyr641His" "" "Somatic" "" "" "0" "" "" "g.148811636A>G" "" "pathogenic" "" "0000075979" "0" "95" "7" "148508728" "148508728" "subst" "0" "00004" "EZH2_000014" "g.148508728A>G" "" "{PMID:Morin 2010:20081860}" "" "Chr.7:148139661T>C, Tyr641His" "" "Somatic" "" "" "0" "" "" "g.148811636A>G" "" "pathogenic" "" "0000075980" "0" "95" "7" "148508728" "148508728" "subst" "0" "00004" "EZH2_000014" "g.148508728A>G" "" "{PMID:Morin 2010:20081860}" "" "Chr.7:148139661T>C, Tyr641His" "" "Somatic" "" "" "0" "" "" "g.148811636A>G" "" "pathogenic" "" "0000075981" "0" "95" "7" "148508728" "148508728" "subst" "0" "00004" "EZH2_000014" "g.148508728A>G" "" "{PMID:Morin 2010:20081860}" "" "Chr.7:148139661T>C, Tyr641His" "" "Somatic" "" "" "0" "" "" "g.148811636A>G" "" "pathogenic" "" "0000075982" "0" "95" "7" "148508728" "148508728" "subst" "0" "00004" "EZH2_000014" "g.148508728A>G" "" "{PMID:Morin 2010:20081860}" "" "Chr.7:148139661T>C, Tyr641His" "" "Somatic" "" "" "0" "" "" "g.148811636A>G" "" "pathogenic" "" "0000075983" "0" "95" "7" "148508728" "148508728" "subst" "0" "00004" "EZH2_000014" "g.148508728A>G" "" "{PMID:Morin 2010:20081860}" "" "Chr.7:148139661T>C, Tyr641His" "" "Somatic" "" "" "0" "" "" "g.148811636A>G" "" "pathogenic" "" "0000075984" "0" "95" "7" "148508727" "148508727" "subst" "0" "00004" "EZH2_000015" "g.148508727T>G" "" "{PMID:Morin 2010:20081860}" "" "Chr.7:148139660A>C, Tyr641Ser" "" "Somatic" "" "" "0" "" "" "g.148811635T>G" "" "pathogenic" "" "0000075985" "2" "95" "7" "148544318" "148544318" "subst" "0" "00004" "EZH2_000060" "g.148544318G>A" "" "{PMID:Ernst 2010:20601953}" "" "p.Arg25X + p.Gly564fsX110" "" "Somatic" "" "" "0" "" "" "g.148847226G>A" "" "pathogenic" "" "0000075986" "2" "95" "7" "148543636" "148543636" "subst" "0" "00004" "EZH2_000009" "g.148543636G>A" "" "{PMID:Ernst 2010:20601953}" "" "p.Gln58X + p.Cys571Tyr" "" "Somatic" "" "" "0" "" "" "g.148846544G>A" "" "pathogenic" "" "0000075987" "0" "95" "7" "148543624" "148543624" "subst" "0" "00004" "EZH2_000011" "g.148543624G>A" "" "{PMID:Ernst 2010:20601953}" "" "p.Gln62X" "" "Somatic" "" "" "0" "" "" "g.148846532G>A" "" "pathogenic" "" "0000075988" "0" "95" "7" "148543619" "148543619" "dup" "0" "00004" "EZH2_000012" "g.148543619dup" "" "{PMID:Ernst 2010:20601953}" "" "c.188_189ins10, p.Arg63fsX18" "" "Somatic" "" "" "0" "" "" "g.148846527dup" "" "pathogenic" "" "0000075989" "2" "95" "7" "148543591" "148543592" "del" "0" "00004" "EZH2_000030" "g.148543591_148543592del" "" "{PMID:Ernst 2010:20601953}" "" "c.216_217het_delTT, p.Thr72fsX8 + p.Gly660Arg" "" "Somatic" "" "" "0" "" "" "g.148846499_148846500del" "" "pathogenic" "" "0000075990" "0" "99" "7" "148526910" "148526910" "subst" "0" "01375" "EZH2_000054" "g.148526910G>A" "" "{PMID:Gibson 2012:22177091}, {PMID:Cohen 2016:27193220}, {PMID:Choufani 2020:32243864}" "" "p.Pro132Ser" "" "De novo" "" "" "0" "" "" "g.148829818G>A" "" "pathogenic (dominant)" "" "0000075991" "0" "79" "7" "148526910" "148526910" "subst" "0" "01375" "EZH2_000054" "g.148526910G>A" "" "{PMID:Cohen 2016:27193220}, {PMID:Choufani 2020:32243864}" "" "" "" "De novo" "" "" "0" "specific methylation differences on methylation array analysis" "" "g.148829818G>A" "" "pathogenic (dominant)" "" "0000075992" "0" "79" "7" "148526906" "148526906" "subst" "0" "01375" "EZH2_000055" "g.148526906T>C" "" "{PMID:Cohen 2016:27193220}, {PMID:Choufani 2020:32243864}" "" "" "" "De novo" "" "" "0" "" "" "g.148829814T>C" "" "pathogenic (dominant)" "" "0000075993" "0" "79" "7" "148526906" "148526906" "subst" "0" "01375" "EZH2_000055" "g.148526906T>C" "" "{PMID:Cohen 2016:27193220}, {PMID:Choufani 2020:32243864}" "" "" "" "De novo" "" "" "0" "specific methylation differences on methylation array" "" "g.148829814T>C" "" "pathogenic (dominant)" "" "0000075994" "0" "95" "7" "148526903" "148526903" "subst" "0" "01375" "EZH2_000061" "g.148526903A>G" "" "{PMID:Tatton-Brown 2011:22190405}" "" "p.Met134Thr" "" "De novo" "" "" "0" "" "" "g.148829811A>G" "" "pathogenic" "" "0000075995" "0" "95" "7" "148526870" "148526870" "subst" "0" "00004" "EZH2_000034" "g.148526870A>C" "" "{PMID:Ernst 2010:20601953}" "" "p.Phe145Cys" "" "Somatic" "" "" "0" "" "" "g.148829778A>C" "" "pathogenic" "" "0000075996" "2" "95" "7" "148526863" "148526865" "dup" "0" "00004" "EZH2_000035" "g.148526863_148526865dup" "" "{PMID:Ernst 2010:20601953}" "" "c.444_445het_insG1010, p.ins_Glu149 + p.Arg684Cys" "" "De novo" "" "" "0" "" "" "g.148829771_148829773dup" "" "pathogenic" "" "0000075997" "0" "99" "7" "148526847" "148526849" "del" "0" "00079" "EZH2_000052" "g.148526847_148526849del" "" "{PMID:Gibson 2012:22177091}, {PMID:Cohen 2016:27193220}, {PMID:Choufani 2020:32243864}" "" "c.457_459del" "" "De novo" "" "" "0" "specific methylation differences on methylation array analysis" "" "g.148829755_148829757del" "" "pathogenic (dominant)" "" "0000075998" "0" "55" "7" "148525904" "148525904" "subst" "0.0781224" "01375" "EZH2_000056" "g.148525904C>G" "" "" "" "" "variant of unknown significance" "Germline" "" "" "0" "" "" "g.148828812C>G" "" "VUS" "" "0000075999" "0" "55" "7" "148525904" "148525904" "subst" "0.0781224" "01375" "EZH2_000056" "g.148525904C>G" "" "" "" "" "variant of unknown significance" "Germline" "" "" "0" "" "" "g.148828812C>G" "" "VUS" "" "0000076000" "0" "95" "7" "148525883" "148525883" "subst" "1.64204E-5" "00004" "EZH2_000036" "g.148525883C>T" "" "{PMID:Ernst 2010:20601953}" "" "p.Asp192Asn" "" "Somatic" "" "" "0" "" "" "g.148828791C>T" "" "pathogenic" "" "0000076001" "3" "95" "7" "148525838" "148525838" "subst" "0" "00004" "EZH2_000037" "g.148525838G>A" "" "{PMID:Ernst 2010:20601953}" "" "p.Arg207X" "" "Uniparental disomy" "" "" "0" "" "" "g.148828746G>A" "" "pathogenic" "" "0000076002" "0" "95" "7" "148524257" "148524257" "subst" "0" "00004" "EZH2_000038" "g.148524257T>G" "" "{PMID:Ernst 2010:20601953}" "" "p.Lys243Gln" "" "Somatic" "" "" "0" "" "" "g.148827165T>G" "" "pathogenic" "" "0000076003" "3" "95" "7" "148523726" "148523726" "del" "0" "00004" "EZH2_000039" "g.148523726del" "" "{PMID:Ernst 2010:20601953}" "" "intron delA (2bp prior exon8)" "" "Uniparental disomy" "" "" "0" "" "" "g.148826634del" "" "pathogenic" "" "0000076004" "1" "95" "7" "148523723" "148523723" "subst" "0" "00004" "EZH2_000040" "g.148523723A>C" "" "{PMID:Ernst 2010:20601953}" "" "p.Tyr244Asp +p.His297Arg" "" "Somatic" "" "" "0" "" "" "g.148826631A>C" "" "pathogenic" "" "0000076005" "0" "55" "7" "148504763" "148504765" "dup" "0" "01375" "EZH2_000073" "g.148504763_148504765dup" "" "{PMID:Tatton-Brown 2013:24214728}" "" "744dup1, 2230_2232dup" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.148807671_148807673dup" "" "VUS" "" "0000076006" "2" "95" "7" "148523708" "148523708" "subst" "0" "00004" "EZH2_000042" "g.148523708C>T" "" "{PMID:Ernst 2010:20601953}" "" "p.Glu249Lys + p.Ala656Val" "" "De novo" "" "" "0" "" "" "g.148826616C>T" "" "pathogenic" "" "0000076007" "0" "95" "7" "148523699" "148523699" "subst" "0" "00004" "EZH2_000043" "g.148523699G>C" "" "{PMID:Ernst 2010:20601953}" "" "p.Leu252Val" "" "Somatic" "" "" "0" "" "" "g.148826607G>C" "" "pathogenic" "" "0000076008" "0" "95" "7" "148523697" "148523697" "dup" "0" "00004" "EZH2_000044" "g.148523697dup" "" "{PMID:Ernst 2010:20601953}" "" "c.755_756het_insC, p.Leu252fsX7" "" "Somatic" "" "" "0" "" "" "g.148826605dup" "" "pathogenic" "" "0000076009" "0" "95" "7" "148523690" "148523690" "subst" "0" "00004" "EZH2_000045" "g.148523690C>T" "" "{PMID:Ernst 2010:20601953}" "" "p.Ala255Thr" "" "Somatic" "" "" "0" "" "" "g.148826598C>T" "" "pathogenic" "" "0000076010" "0" "95" "7" "148523671" "148523671" "dup" "0" "00004" "EZH2_000046" "g.148523671dup" "" "{PMID:Ernst 2010:20601953}" "" "c.786_787het_insC, p.Asn263fsX7" "" "Somatic" "" "" "0" "" "" "g.148826579dup" "" "pathogenic" "" "0000076011" "0" "95" "7" "148523617" "148523617" "subst" "0" "01375" "EZH2_000062" "g.148523617T>C" "" "{PMID:Tatton-Brown 2011:22190405}" "" "p.His279Arg" "" "De novo" "" "" "0" "" "" "g.148826525T>C" "" "pathogenic" "" "0000076012" "3" "95" "7" "148523590" "148523590" "subst" "0" "00004" "EZH2_000047" "g.148523590C>T" "" "{PMID:Ernst 2010:20601953}" "" "p.Arg288Gln" "" "Uniparental disomy" "" "" "0" "" "" "g.148826498C>T" "" "pathogenic" "" "0000076013" "2" "95" "7" "148523563" "148523563" "subst" "0" "00004" "EZH2_000048" "g.148523563T>C" "" "{PMID:Ernst 2010:20601953}" "" "p.Tyr244Asp +p.His297Arg" "" "Somatic" "" "" "0" "" "" "g.148826471T>C" "" "pathogenic" "" "0000076014" "0" "95" "7" "148516738" "148516738" "subst" "0" "00004" "EZH2_000049" "g.148516738C>A" "" "{PMID:Ernst 2010:20601953}" "" "p.Glu317X" "" "Somatic" "" "" "0" "" "" "g.148819646C>A" "" "pathogenic" "" "0000076015" "0" "95" "7" "148516722" "148516722" "subst" "0.000259936" "00004" "EZH2_000050" "g.148516722T>C" "" "{PMID:Ernst 2010:20601953}" "" "p.Asn322Ser" "" "Somatic" "" "" "0" "" "" "g.148819630T>C" "" "pathogenic" "" "0000076016" "3" "95" "7" "148516705" "148516705" "subst" "0" "00004" "EZH2_000051" "g.148516705G>A" "" "{PMID:Ernst 2010:20601953}" "" "p.Gln328X" "de novo" "Uniparental disomy" "" "" "0" "" "" "g.148819613G>A" "" "pathogenic" "" "0000076017" "10" "95" "7" "148515176" "148515176" "subst" "8.34453E-6" "00004" "EZH2_000002" "g.148515176C>T" "" "{PMID:Ernst 2010:20601953}" "" "p.Ala345Thr" "" "Somatic" "" "" "0" "" "" "g.148818084C>T" "" "pathogenic" "" "0000076018" "3" "95" "7" "148515033" "148515034" "del" "0" "00004" "EZH2_000003" "g.148515033_148515034del" "" "{PMID:Ernst 2010:20601953}" "" "c.1175_1176het_del1010, p.Glu392fsX6" "" "Somatic" "" "" "0" "" "" "g.148817941_148817942del" "" "pathogenic" "" "0000076019" "3" "95" "7" "148515008" "148515011" "del" "0" "00004" "EZH2_000004" "g.148515008_148515011del" "" "{PMID:Ernst 2010:20601953}" "" "c.121010_12103del10G1010, p.Lys400fsX22" "" "Somatic" "" "" "0" "" "" "g.148817916_148817919del" "" "pathogenic" "" "0000076020" "0" "95" "7" "148512633" "148512633" "del" "0" "00004" "EZH2_000059" "g.148512633del" "" "{PMID:Ernst 2010:20601953}" "" "c.1513het_delG, p.Ala505fsX8" "" "Somatic" "" "" "0" "" "" "g.148815541del" "" "pathogenic" "" "0000076021" "0" "95" "7" "148512619" "148512619" "subst" "0" "00004" "EZH2_000005" "g.148512619T>C" "" "{PMID:Ernst 2010:20601953}" "" "p.Arg509Gly" "" "Somatic" "" "" "0" "" "" "g.148815527T>C" "" "pathogenic" "" "0000076022" "1" "95" "7" "148511213" "148511213" "del" "0" "00004" "EZH2_000006" "g.148511213del" "" "{PMID:Ernst 2010:20601953}" "" "c.1691het_delG, p.Arg25X + p.Gly564fsX110" "" "Somatic" "" "" "0" "" "" "g.148814121del" "" "pathogenic" "" "0000076023" "1" "95" "7" "148511190" "148511190" "subst" "0" "00004" "EZH2_000007" "g.148511190C>T" "" "{PMID:Ernst 2010:20601953}" "" "p.Gln58X + p.Cys571Tyr" "" "Somatic" "" "" "0" "" "" "g.148814098C>T" "" "pathogenic" "" "0000076024" "3" "95" "7" "148511174" "148511174" "subst" "0" "00004" "EZH2_000008" "g.148511174G>C" "" "{PMID:Ernst 2010:20601953}" "" "p.Cys576Trp" "" "Uniparental disomy" "" "" "0" "" "" "g.148814082G>C" "" "pathogenic" "" "0000076025" "0" "95" "7" "148511128" "148511131" "del" "0" "00004" "EZH2_000010" "g.148511128_148511131del" "" "{PMID:Ernst 2010:20601953}" "" "c.1774_1777het_del10CTT, p.Thr592fsX82" "" "Somatic" "" "" "0" "" "" "g.148814036_148814039del" "" "pathogenic" "" "0000076026" "0" "95" "7" "148508788" "148508788" "subst" "0" "01375" "EZH2_000063" "g.148508788C>T" "" "{PMID:Tatton-Brown 2011:22190405}" "" "p.Val626Met" "" "De novo" "" "" "0" "" "" "g.148811696C>T" "" "pathogenic" "" "0000076027" "0" "95" "7" "148508749" "148508749" "subst" "0" "01375" "EZH2_000064" "g.148508749T>C" "" "{PMID:Tatton-Brown 2011:22190405}" "" "p.Lys639Glu" "" "De novo" "" "" "0" "" "" "g.148811657T>C" "" "pathogenic" "" "0000076028" "0" "95" "7" "148507488" "148507488" "del" "0" "00004" "EZH2_000016" "g.148507488del" "" "{PMID:Ernst 2010:20601953}" "" "c.1966het_delG, p.Ala656fsX18" "" "De novo" "" "" "0" "" "" "g.148810396del" "" "pathogenic" "" "0000076029" "1" "95" "7" "148507487" "148507487" "subst" "0" "00004" "EZH2_000017" "g.148507487G>A" "" "{PMID:Ernst 2010:20601953}" "" "p.Glu249Lys + p.Ala656Val" "" "De novo" "" "" "0" "" "" "g.148810395G>A" "" "pathogenic" "" "0000076030" "1" "95" "7" "148507476" "148507476" "subst" "0" "00004" "EZH2_000018" "g.148507476C>G" "" "{PMID:Ernst 2010:20601953}" "" "p.Thr72fsX8 + p.Gly660Arg" "" "Somatic" "" "" "0" "" "" "g.148810384C>G" "" "pathogenic" "" "0000076031" "0" "95" "7" "148507467" "148507467" "subst" "0" "01375" "EZH2_000065" "g.148507467A>T" "" "{PMID:Tatton-Brown 2011:22190405}" "" "p.Tyr663Asn" "" "De novo" "" "" "0" "" "" "g.148810375A>T" "" "pathogenic" "" "0000076032" "0" "95" "7" "148507463" "148507463" "subst" "0" "00004" "EZH2_000019" "g.148507463T>A" "" "{PMID:Ernst 2010:20601953}" "" "p.Asp664Val" "" "Somatic" "" "" "0" "" "" "g.148810371T>A" "" "pathogenic" "" "0000076033" "0" "55" "7" "148507463" "148507463" "subst" "0" "01375" "EZH2_000019" "g.148507463T>A" "" "{PMID:Tatton-Brown 2011:22190405}" "" "p.Asp664Val" "" "Unknown" "" "" "0" "" "" "g.148810371T>A" "" "VUS" "" "0000076034" "3" "95" "7" "148507462" "148507462" "subst" "0" "00004" "EZH2_000021" "g.148507462A>T" "" "{PMID:Ernst 2010:20601953}" "" "p.Asp664Glu" "" "Uniparental disomy" "" "" "0" "" "" "g.148810370A>T" "" "pathogenic" "" "0000076035" "3" "95" "7" "148507462" "148507462" "subst" "0" "00004" "EZH2_000022" "g.148507462A>C" "" "{PMID:Ernst 2010:20601953}" "" "p.Asp664Glu" "" "Uniparental disomy" "" "" "0" "" "" "g.148810370A>C" "" "pathogenic" "" "0000076036" "1" "95" "7" "148507458" "148507463" "del" "0" "00004" "EZH2_000020" "g.148507458_148507463del" "" "{PMID:Ernst 2010:20601953}" "" "c.1992_1997het_delT101010T10, p.del(Lys665+Tyr666) + p.Asp730X" "" "Somatic" "" "" "0" "" "" "g.148810366_148810371del" "" "pathogenic" "" "0000076037" "0" "95" "7" "148506468" "148506468" "subst" "0" "01375" "EZH2_000066" "g.148506468C>T" "" "{PMID:Tatton-Brown 2011:22190405}" "" "p.Ala682Thr" "" "De novo" "" "" "0" "" "" "g.148809376C>T" "" "pathogenic" "" "0000076038" "3" "95" "7" "148506462" "148506462" "subst" "0" "00004" "EZH2_000023" "g.148506462G>A" "" "{PMID:Ernst 2010:20601953}" "" "p.Arg684Cys" "" "Somatic" "" "" "0" "" "" "g.148809370G>A" "" "pathogenic" "" "0000076039" "1" "95" "7" "148506462" "148506462" "subst" "0" "00004" "EZH2_000023" "g.148506462G>A" "" "{PMID:Ernst 2010:20601953}" "" "p.ins_Glu149 + p.Arg684Cys" "" "De novo" "" "" "0" "" "" "g.148809370G>A" "" "pathogenic" "" "0000076040" "0" "75" "7" "148506462" "148506462" "subst" "0" "01375" "EZH2_000023" "g.148506462G>A" "" "{PMID:Cohen 2016:27193220}, {PMID:Choufani 2020:32243864}" "" "" "" "De novo" "" "" "0" "" "" "g.148809370G>A" "" "pathogenic (dominant)" "" "0000076041" "0" "95" "7" "148506462" "148506462" "subst" "0" "01375" "EZH2_000023" "g.148506462G>A" "" "{PMID:Tatton-Brown 2011:22190405}, {PMID:Tatton-Brown 2013:24214728}" "" "p.Arg684Cys" "" "De novo" "" "" "0" "" "" "g.148809370G>A" "" "pathogenic (dominant)" "" "0000076042" "0" "75" "7" "148506462" "148506462" "subst" "0" "01375" "EZH2_000023" "g.148506462G>A" "" "{PMID:Tatton-Brown 2011:22190405}" "" "p.Arg684Cys" "" "Unknown" "" "" "0" "" "" "g.148809370G>A" "" "likely pathogenic" "" "0000076043" "0" "75" "7" "148506462" "148506462" "subst" "0" "01375" "EZH2_000023" "g.148506462G>A" "" "{PMID:Tatton-Brown 2011:22190405}" "" "p.Arg684Cys" "" "Unknown" "" "" "0" "" "" "g.148809370G>A" "" "likely pathogenic" "" "0000076044" "3" "95" "7" "148506459" "148506459" "del" "0" "00004" "EZH2_000024" "g.148506459del" "" "{PMID:Ernst 2010:20601953}" "" "c.21054del10, p.Lys685fsX11" "" "Uniparental disomy" "" "" "0" "" "" "g.148809367del" "" "pathogenic" "" "0000076045" "0" "95" "7" "148506444" "148506444" "subst" "0" "00004" "EZH2_000025" "g.148506444G>A" "" "{PMID:Ernst 2010:20601953}" "" "p.Arg690Cys" "" "Somatic" "" "" "0" "" "" "g.148809352G>A" "" "pathogenic" "" "0000076046" "3" "95" "7" "148506443" "148506443" "subst" "0" "00004" "EZH2_000026" "g.148506443C>T" "" "{PMID:Ernst 2010:20601953}" "" "p.Arg690His" "" "Somatic" "" "" "0" "" "" "g.148809351C>T" "" "pathogenic" "" "0000076047" "3" "95" "7" "148506434" "148506434" "subst" "0" "00004" "EZH2_000027" "g.148506434T>A" "" "{PMID:Ernst 2010:20601953}" "" "p.Asn693Ile" "" "Somatic" "" "" "0" "" "" "g.148809342T>A" "" "pathogenic" "" "0000076048" "0" "95" "7" "148506433" "148506433" "subst" "0" "00004" "EZH2_000028" "g.148506433A>T" "" "{PMID:Ernst 2010:20601953}" "" "p.Asn693Lys" "" "Somatic" "" "" "0" "" "" "g.148809341A>T" "" "pathogenic" "" "0000076049" "0" "79" "7" "148506432" "148506432" "subst" "0" "01375" "EZH2_000053" "g.148506432G>A" "" "{PMID:Gibson 2012:22177091}, {PMID:Cohen 2016:27193220}, {PMID:Choufani 2020:32243864}" "" "p.His694Tyr" "" "De novo" "" "" "0" "" "" "g.148809340G>A" "" "pathogenic (dominant)" "" "0000076050" "0" "95" "7" "148506428" "148506428" "subst" "0" "01375" "EZH2_000067" "g.148506428G>A" "" "{PMID:Tatton-Brown 2011:22190405}" "" "p.Ser695Leu" "" "De novo" "" "" "0" "" "" "g.148809336G>A" "" "pathogenic" "" "0000076051" "0" "95" "7" "148506220" "148506220" "subst" "0" "00004" "EZH2_000029" "g.148506220A>G" "" "{PMID:Ernst 2010:20601953}" "" "p.Ile713Thr" "" "Somatic" "" "" "0" "" "" "g.148809128A>G" "" "pathogenic" "" "0000076052" "2" "95" "7" "148506176" "148506176" "dup" "0" "00004" "EZH2_000031" "g.148506176dup" "" "{PMID:Ernst 2010:20601953}" "" "c.2187_2188het_insT, p.del(Lys665+Tyr666) + p.Asp730X" "" "Somatic" "" "" "0" "" "" "g.148809084dup" "" "pathogenic" "" "0000076053" "3" "95" "7" "148506176" "148506176" "dup" "0" "00004" "EZH2_000031" "g.148506176dup" "" "{PMID:Ernst 2010:20601953}" "" "c.2187dupT, p.Asp730X" "" "Uniparental disomy" "" "" "0" "" "" "g.148809084dup" "" "pathogenic" "" "0000076054" "0" "95" "7" "148506167" "148506167" "subst" "0" "00004" "EZH2_000032" "g.148506167A>C" "" "{PMID:Ernst 2010:20601953}" "" "p.Tyr731Asp" "" "Somatic" "" "" "0" "" "" "g.148809075A>C" "" "pathogenic" "" "0000076056" "0" "95" "7" "148504795" "148504795" "subst" "0" "00004" "EZH2_000033" "g.148504795G>T" "" "{PMID:Ernst 2010:20601953}" "" "p.Tyr733X" "" "Somatic" "" "" "0" "" "" "g.148807703G>T" "" "pathogenic" "" "0000076057" "0" "95" "7" "148504795" "148504795" "subst" "0" "01375" "EZH2_000068" "g.148504795G>C" "" "{PMID:Tatton-Brown 2011:22190405}" "" "p.Tyr733*" "" "De novo" "" "" "0" "" "" "g.148807703G>C" "" "pathogenic" "" "0000076058" "0" "95" "7" "148504783" "148504790" "dup" "0" "01375" "EZH2_000071" "g.148504783_148504790dup" "" "{PMID:Tatton-Brown 2011:22190405}" "" "2204_2211dupAGGCTGAT" "" "De novo" "" "" "0" "" "" "g.148807691_148807698dup" "" "pathogenic (dominant)" "" "0000076059" "0" "95" "7" "148504772" "148504772" "subst" "0" "01375" "EZH2_000069" "g.148504772T>C" "" "{PMID:Tatton-Brown 2011:22190405}" "" "p.Tyr741Cys" "" "De novo" "" "" "0" "" "" "g.148807680T>C" "" "pathogenic" "" "0000076060" "0" "95" "7" "148504761" "148504761" "subst" "0" "01375" "EZH2_000070" "g.148504761C>T" "" "{PMID:Tatton-Brown 2011:22190405}" "" "p.Glu745Lys" "" "De novo" "" "" "0" "" "" "g.148807669C>T" "" "pathogenic" "" "0000079369" "11" "90" "7" "148523618" "148523618" "subst" "0" "00006" "EZH2_000086" "g.148523618G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.148826526G>A" "" "pathogenic" "" "0000079438" "21" "90" "7" "148504770" "148504770" "subst" "0" "00006" "EZH2_000087" "g.148504770C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.148807678C>T" "" "pathogenic" "" "0000134737" "0" "70" "7" "148480099" "148505516" "del" "0" "01794" "EZH2_000088" "g.148480099_148505516del" "" "" "" "" "25.42 kb deletion of exon 20 of EZH2 and part of CUL1" "De novo" "" "" "0" "" "" "g.148783007_148808424del" "" "likely pathogenic" "" "0000249110" "0" "10" "7" "148543704" "148543704" "del" "0" "02325" "EZH2_000079" "g.148543704del" "" "" "" "EZH2(NM_001203247.1):c.118-4del (p.?), EZH2(NM_004456.5):c.118-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148846612del" "" "benign" "" "0000331935" "0" "30" "7" "148508818" "148508818" "subst" "0.0018702" "01804" "EZH2_000089" "g.148508818G>A" "" "" "" "EZH2(NM_001203247.1):c.1837-6C>T (p.(=)), EZH2(NM_004456.4):c.1852-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148811726G>A" "" "likely benign" "" "0000331937" "0" "50" "7" "148523585" "148523585" "subst" "0" "01804" "EZH2_000091" "g.148523585A>C" "" "" "" "EZH2(NM_001203247.1):c.868T>G (p.(Phe290Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148826493A>C" "" "VUS" "" "0000343273" "0" "50" "7" "148506443" "148506443" "subst" "0" "02327" "EZH2_000026" "g.148506443C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148809351C>T" "" "VUS" "" "0000346435" "0" "70" "7" "148523617" "148523617" "subst" "0" "02327" "EZH2_000062" "g.148523617T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148826525T>C" "" "likely pathogenic" "" "0000369006" "11" "90" "7" "148506462" "148506462" "subst" "0" "01677" "EZH2_000023" "g.148506462G>A" "" "" "" "" "" "Germline" "yes" "rs587783626" "0" "" "" "g.148809370G>A" "" "pathogenic" "" "0000531152" "0" "90" "7" "148506462" "148506462" "subst" "0" "01943" "EZH2_000023" "g.148506462G>A" "" "" "" "EZH2(NM_004456.4):c.2050C>T (p.R684C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148809370G>A" "" "pathogenic" "" "0000531153" "0" "30" "7" "148508818" "148508818" "subst" "0.0018702" "01943" "EZH2_000089" "g.148508818G>A" "" "" "" "EZH2(NM_001203247.1):c.1837-6C>T (p.(=)), EZH2(NM_004456.4):c.1852-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148811726G>A" "" "likely benign" "" "0000531154" "0" "50" "7" "148511213" "148511213" "subst" "4.10145E-6" "02327" "EZH2_000094" "g.148511213C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148814121C>T" "" "VUS" "" "0000531155" "0" "50" "7" "148523541" "148523541" "subst" "0.000191631" "01804" "EZH2_000095" "g.148523541C>T" "" "" "" "EZH2(NM_004456.4):c.907+5G>A (p.?), EZH2(NM_004456.5):c.907+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148826449C>T" "" "VUS" "" "0000531156" "0" "50" "7" "148523687" "148523687" "subst" "0" "02327" "EZH2_000096" "g.148523687G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148826595G>C" "" "VUS" "" "0000531157" "0" "30" "7" "148524327" "148524327" "subst" "0.0004308" "01943" "EZH2_000097" "g.148524327A>G" "" "" "" "EZH2(NM_004456.4):c.657T>C (p.P219=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148827235A>G" "" "likely benign" "" "0000531159" "0" "30" "7" "148525910" "148525912" "del" "0" "01804" "EZH2_000099" "g.148525910_148525912del" "" "" "" "EZH2(NM_001203247.1):c.552_554del (p.(Asp189del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148828818_148828820del" "" "likely benign" "" "0000531160" "0" "30" "7" "148525979" "148525979" "subst" "0.00274348" "01804" "EZH2_000100" "g.148525979C>T" "" "" "" "EZH2(NM_001203247.1):c.485-7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148828887C>T" "" "likely benign" "" "0000531161" "0" "70" "7" "148526829" "148526829" "subst" "0" "01804" "EZH2_000101" "g.148526829C>T" "" "" "" "EZH2(NM_004456.4):c.475G>A (p.(Gly159Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148829737C>T" "" "likely pathogenic" "" "0000531162" "0" "50" "7" "148526840" "148526840" "subst" "4.11801E-6" "02327" "EZH2_000102" "g.148526840C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148829748C>T" "" "VUS" "" "0000531163" "0" "50" "7" "148543674" "148543674" "subst" "4.08717E-6" "02327" "EZH2_000103" "g.148543674T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148846582T>C" "" "VUS" "" "0000531164" "0" "30" "7" "148543704" "148543704" "del" "0" "01804" "EZH2_000079" "g.148543704del" "" "" "" "EZH2(NM_001203247.1):c.118-4del (p.?), EZH2(NM_004456.5):c.118-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148846612del" "" "likely benign" "" "0000610902" "0" "50" "7" "148511116" "148511116" "subst" "0.000105603" "01943" "EZH2_000104" "g.148511116C>T" "" "" "" "EZH2(NM_004456.4):c.1786G>A (p.A596T), EZH2(NM_004456.5):c.1786G>A (p.(Ala596Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148814024C>T" "" "VUS" "" "0000610903" "0" "30" "7" "148516722" "148516722" "subst" "0.000259936" "01943" "EZH2_000050" "g.148516722T>C" "" "" "" "EZH2(NM_004456.4):c.965A>G (p.N322S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148819630T>C" "" "likely benign" "" "0000610904" "0" "50" "7" "148524325" "148524325" "subst" "1.21946E-5" "01804" "EZH2_000105" "g.148524325G>A" "" "" "" "EZH2(NM_001203247.1):c.659C>T (p.(Ser220Phe)), EZH2(NM_004456.5):c.659C>T (p.S220F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148827233G>A" "" "VUS" "" "0000653337" "1" "90" "7" "148506170" "148506170" "dup" "0" "03575" "EZH2_000106" "g.148506170dup" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs797045568}\r\nVariant Error EBUILDMISMATCH: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "" "rs797045568" "0" "" "" "g.148809079dup" "" "pathogenic" "" "0000655777" "0" "30" "7" "148511171" "148511171" "subst" "0.0105" "01804" "EZH2_000107" "g.148511171C>T" "" "" "" "EZH2(NM_001203247.1):c.1716G>A (p.(Pro572=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148814079C>T" "" "likely benign" "" "0000660092" "0" "90" "7" "148508788" "148508788" "subst" "0" "00006" "EZH2_000063" "g.148508788C>T" "" "{PMID:Choufani 2020:32243864}" "" "" "" "De novo" "" "" "0" "" "" "g.148811696C>T" "" "pathogenic (dominant)" "" "0000660123" "0" "90" "7" "148544317" "148544317" "subst" "0" "00006" "EZH2_000126" "g.148544317C>T" "" "{PMID:Tatton-Brown 2013:24214728}" "" "Arg25Gln" "" "Germline" "" "" "0" "" "" "g.148847225C>T" "" "pathogenic (dominant)" "" "0000660124" "0" "90" "7" "148544317" "148544317" "subst" "0" "00006" "EZH2_000126" "g.148544317C>T" "" "{PMID:Tatton-Brown 2013:24214728}" "" "Arg25Gln" "" "Germline" "" "" "0" "" "" "g.148847225C>T" "" "pathogenic (dominant)" "" "0000660125" "0" "90" "7" "148544317" "148544317" "subst" "0" "00006" "EZH2_000126" "g.148544317C>T" "" "{PMID:Tatton-Brown 2013:24214728}" "" "Arg25Gln" "" "Germline" "" "" "0" "" "" "g.148847225C>T" "" "pathogenic (dominant)" "" "0000660126" "0" "90" "7" "148526914" "148526914" "subst" "0" "00006" "EZH2_000125" "g.148526914G>T" "" "{PMID:Tatton-Brown 2013:24214728}" "" "Asn130Lys" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.148829822G>T" "" "pathogenic (dominant)" "" "0000660127" "0" "90" "7" "148526869" "148526869" "subst" "0" "00006" "EZH2_000110" "g.148526869G>C" "" "{PMID:Tatton-Brown 2013:24214728}, {PMID:Tatton-Brown 2017:28475857}" "" "Phe145Leu" "" "De novo" "" "" "0" "" "" "g.148829777G>C" "" "pathogenic (dominant)" "" "0000660128" "0" "90" "7" "148526862" "148526862" "subst" "0" "00006" "EZH2_000124" "g.148526862C>T" "" "{PMID:Tatton-Brown 2013:24214728}" "" "Glu148Lys" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.148829770C>T" "" "pathogenic (dominant)" "" "0000660129" "0" "90" "7" "148526861" "148526861" "subst" "0" "00006" "EZH2_000123" "g.148526861T>C" "" "{PMID:Tatton-Brown 2013:24214728}" "" "Glu148Gly" "" "De novo" "" "" "0" "" "" "g.148829769T>C" "" "pathogenic (dominant)" "" "0000660130" "0" "90" "7" "148526846" "148526846" "subst" "0" "00006" "EZH2_000075" "g.148526846T>C" "" "{PMID:Tatton-Brown 2013:24214728}" "" "Tyr153Cys" "" "De novo" "" "" "0" "" "" "g.148829754T>C" "" "pathogenic (dominant)" "" "0000660131" "0" "90" "7" "148526838" "148526838" "subst" "0" "00006" "EZH2_000122" "g.148526838T>C" "" "{PMID:Tatton-Brown 2011:22190405}, {PMID:Tatton-Brown 2013:24214728}" "" "Lys156Glu" "" "Germline" "" "" "0" "" "" "g.148829746T>C" "" "pathogenic (dominant)" "" "0000660132" "0" "90" "7" "148526838" "148526838" "subst" "0" "00006" "EZH2_000122" "g.148526838T>C" "" "{PMID:Tatton-Brown 2013:24214728}" "" "Lys156Glu" "" "Germline" "" "" "0" "" "" "g.148829746T>C" "" "pathogenic (dominant)" "" "0000660133" "0" "90" "7" "148526838" "148526838" "subst" "0" "00006" "EZH2_000122" "g.148526838T>C" "" "{PMID:Tatton-Brown 2013:24214728}" "" "Lys156Glu" "" "Germline" "" "" "0" "" "" "g.148829746T>C" "" "pathogenic (dominant)" "" "0000660134" "0" "90" "7" "148526838" "148526838" "subst" "0" "00006" "EZH2_000122" "g.148526838T>C" "" "{PMID:Tatton-Brown 2013:24214728}" "" "Lys156Glu" "" "Germline" "" "" "0" "" "" "g.148829746T>C" "" "pathogenic (dominant)" "" "0000660135" "0" "90" "7" "148526838" "148526838" "subst" "0" "00006" "EZH2_000122" "g.148526838T>C" "" "{PMID:Tatton-Brown 2013:24214728}" "" "Lys156Glu" "" "Germline" "" "" "0" "" "" "g.148829746T>C" "" "pathogenic (dominant)" "" "0000660136" "0" "90" "7" "148526838" "148526838" "subst" "0" "00006" "EZH2_000122" "g.148526838T>C" "" "{PMID:Tatton-Brown 2013:24214728}" "" "Lys156Glu" "" "Germline" "" "" "0" "" "" "g.148829746T>C" "" "pathogenic (dominant)" "" "0000660137" "0" "90" "7" "148526829" "148526829" "subst" "0" "00006" "EZH2_000109" "g.148526829C>T" "" "{PMID:Tatton-Brown 2013:24214728}, {PMID:Tatton-Brown 2017:28475857}" "" "Gly159Arg" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.148829737C>T" "" "pathogenic (dominant)" "" "0000660138" "0" "90" "7" "148524286" "148524286" "subst" "0" "00006" "EZH2_000121" "g.148524286T>A" "" "{PMID:Tatton-Brown 2013:24214728}" "" "Asp233Val" "" "Germline" "" "" "0" "" "" "g.148827194T>A" "" "pathogenic (dominant)" "" "0000660139" "0" "90" "7" "148524286" "148524286" "subst" "0" "00006" "EZH2_000121" "g.148524286T>A" "" "{PMID:Tatton-Brown 2013:24214728}" "" "Asp233Val" "" "Germline" "" "" "0" "" "" "g.148827194T>A" "" "pathogenic (dominant)" "" "0000660140" "0" "90" "7" "148511200" "148511200" "subst" "0" "00006" "EZH2_000120" "g.148511200T>C" "" "{PMID:Tatton-Brown 2013:24214728}" "" "Lys568Glu" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.148814108T>C" "" "pathogenic (dominant)" "" "0000660141" "0" "90" "7" "148508812" "148508812" "subst" "0" "00006" "EZH2_000119" "g.148508812G>A" "" "{PMID:Tatton-Brown 2013:24214728}" "" "His618Tyr" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.148811720G>A" "" "pathogenic (dominant)" "" "0000660142" "0" "90" "7" "148507499" "148507499" "subst" "0" "00006" "EZH2_000118" "g.148507499G>C" "" "{PMID:Tatton-Brown 2013:24214728}" "" "Ser652Cys" "" "De novo" "" "" "0" "" "" "g.148810407G>C" "" "pathogenic (dominant)" "" "0000660143" "0" "90" "7" "148507499" "148507499" "subst" "0" "00006" "EZH2_000118" "g.148507499G>C" "" "{PMID:Tatton-Brown 2013:24214728}" "" "Ser652Cys" "" "De novo" "" "" "0" "" "" "g.148810407G>C" "" "pathogenic (dominant)" "" "0000660144" "0" "90" "7" "148507493" "148507493" "subst" "0" "00006" "EZH2_000117" "g.148507493T>C" "" "{PMID:Tatton-Brown 2013:24214728}" "" "Asp654Gly" "" "Germline" "" "" "0" "" "" "g.148810401T>C" "" "pathogenic (dominant)" "" "0000660145" "0" "90" "7" "148507493" "148507493" "subst" "0" "00006" "EZH2_000117" "g.148507493T>C" "" "{PMID:Tatton-Brown 2013:24214728}" "" "Asp654Gly" "" "Germline" "" "" "0" "" "" "g.148810401T>C" "" "pathogenic (dominant)" "" "0000660146" "0" "90" "7" "148507437" "148507437" "subst" "0" "00006" "EZH2_000116" "g.148507437T>A" "" "{PMID:Tatton-Brown 2013:24214728}" "" "Asn673Tyr" "" "De novo" "" "" "0" "" "" "g.148810345T>A" "" "pathogenic (dominant)" "" "0000660147" "0" "90" "7" "148506461" "148506461" "subst" "0" "00006" "EZH2_000115" "g.148506461C>T" "" "{PMID:Tatton-Brown 2013:24214728}" "" "Arg684His" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.148809369C>T" "" "pathogenic (dominant)" "" "0000660148" "0" "90" "7" "148506462" "148506462" "subst" "0" "00006" "EZH2_000023" "g.148506462G>A" "" "{PMID:Tatton-Brown 2011:22190405}, {PMID:Tatton-Brown 2013:24214728}" "" "Arg684Cys" "" "De novo" "" "" "0" "" "" "g.148809370G>A" "" "pathogenic (dominant)" "" "0000660149" "0" "90" "7" "148506462" "148506462" "subst" "0" "00006" "EZH2_000023" "g.148506462G>A" "" "{PMID:Tatton-Brown 2013:24214728}" "" "Arg684Cys" "" "De novo" "" "" "0" "" "" "g.148809370G>A" "" "pathogenic (dominant)" "" "0000660150" "0" "90" "7" "148506226" "148506226" "subst" "0" "00006" "EZH2_000114" "g.148506226T>C" "" "{PMID:Tatton-Brown 2013:24214728}" "" "His711Arg" "" "De novo" "" "" "0" "" "" "g.148809134T>C" "" "pathogenic (dominant)" "" "0000660151" "0" "90" "7" "148504794" "148504794" "subst" "0" "00006" "EZH2_000112" "g.148504794T>C" "" "{PMID:Tatton-Brown 2013:24214728}" "" "Ser734Gly" "" "De novo" "" "" "0" "" "" "g.148807702T>C" "" "pathogenic (dominant)" "" "0000660152" "0" "90" "7" "148504789" "148504789" "subst" "0" "00006" "EZH2_000108" "g.148504789C>G" "" "{PMID:Tatton-Brown 2013:24214728}, {PMID:Tatton-Brown 2017:28475857}" "" "Gln735His" "" "De novo" "" "" "0" "" "" "g.148807697C>G" "" "pathogenic (dominant)" "" "0000660153" "0" "90" "7" "148504800" "148504813" "del" "0" "00006" "EZH2_000113" "g.148504800_148504813del" "" "{PMID:Tatton-Brown 2011:22190405}, {PMID:Tatton-Brown 2013:24214728}" "" "2196-15del14" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.148807708_148807721del" "" "pathogenic (dominant)" "" "0000660154" "0" "90" "7" "148504783" "148504800" "dup" "0" "00006" "EZH2_000072" "g.148504783_148504800dup" "" "{PMID:Tatton-Brown 2013:24214728}" "" "2196-2dup18" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.148807691_148807708dup" "" "pathogenic (dominant)" "" "0000660168" "0" "90" "7" "148480100" "148505516" "del" "0" "00006" "EZH2_000111" "g.148480100_148505516del" "" "{PMID:Imagawa 2017:28229514}" "" "" "" "De novo" "" "" "0" "" "" "g.148783008_148808424del" "" "pathogenic (dominant)" "" "0000673867" "0" "90" "7" "148506462" "148506462" "subst" "0" "03695" "EZH2_000023" "g.148506462G>A" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000689940" "0" "50" "7" "148506160" "148506160" "subst" "0" "01804" "EZH2_000128" "g.148506160A>G" "" "" "" "EZH2(NM_004456.4):c.2195+3T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689941" "0" "30" "7" "148508821" "148508821" "subst" "0.00170574" "01943" "EZH2_000129" "g.148508821T>C" "" "" "" "EZH2(NM_004456.4):c.1852-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000694218" "0" "90" "7" "148506462" "148506462" "subst" "0" "00006" "EZH2_000023" "g.148506462G>A" "" "{PMID:Faundes 2018:29276005}" "" "" "" "De novo" "" "" "0" "" "" "g.148809370G>A" "" "pathogenic" "ACMG" "0000694219" "11" "70" "7" "148523618" "148523618" "subst" "0" "00006" "EZH2_000086" "g.148523618G>A" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.148826526G>A" "" "likely pathogenic" "ACMG" "0000698341" "0" "90" "7" "148504783" "148504783" "dup" "0" "00006" "EZH2_000130" "g.148504783dup" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.148807691dup" "" "pathogenic" "ACMG" "0000704061" "0" "70" "7" "148526847" "148526847" "subst" "0" "03779" "EZH2_000131" "g.148526847A>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000721332" "0" "30" "7" "148506394" "148506394" "subst" "0" "01804" "EZH2_000132" "g.148506394G>A" "" "" "" "EZH2(NM_001203247.1):c.2095+8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721333" "0" "30" "7" "148512642" "148512642" "subst" "0" "02325" "EZH2_000133" "g.148512642C>T" "" "" "" "EZH2(NM_004456.5):c.1506-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721334" "0" "30" "7" "148513822" "148513822" "subst" "0.00115003" "01804" "EZH2_000134" "g.148513822C>T" "" "" "" "EZH2(NM_001203247.1):c.1444G>A (p.(Ala482Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721335" "0" "50" "7" "148523541" "148523541" "subst" "0.000191631" "02329" "EZH2_000095" "g.148523541C>T" "" "" "" "EZH2(NM_004456.4):c.907+5G>A (p.?), EZH2(NM_004456.5):c.907+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721336" "0" "10" "7" "148525904" "148525904" "subst" "0.0781224" "02327" "EZH2_000056" "g.148525904C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000721337" "0" "30" "7" "148526908" "148526908" "subst" "0.00534062" "01943" "EZH2_000135" "g.148526908A>G" "" "" "" "EZH2(NM_004456.4):c.396T>C (p.P132=), EZH2(NM_004456.5):c.396T>C (p.(Pro132=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729932" "0" "90" "7" "148504761" "148504761" "subst" "0" "00000" "EZH2_000070" "g.148504761C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_004456.4:c.2233G>A:p.(Glu745Lys)" "" "De novo" "" "" "0" "" "" "g.148807669C>T" "" "pathogenic (dominant)" "" "0000802984" "0" "30" "7" "148508706" "148508706" "dup" "0" "02326" "EZH2_000136" "g.148508706dup" "" "" "" "EZH2(NM_004456.4):c.1947+11dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851506" "0" "30" "7" "148504768" "148504768" "subst" "0" "01943" "EZH2_000137" "g.148504768G>A" "" "" "" "EZH2(NM_004456.4):c.2226C>T (p.V742=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851507" "0" "30" "7" "148529857" "148529857" "dup" "0" "01943" "EZH2_000138" "g.148529857dup" "" "" "" "EZH2(NM_004456.4):c.247-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860681" "0" "30" "7" "148543574" "148543574" "subst" "0.000272586" "01804" "EZH2_000139" "g.148543574G>A" "" "" "" "EZH2(NM_001203247.1):c.234C>T (p.(Arg78=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887724" "0" "10" "7" "148526908" "148526908" "subst" "0.00534062" "02327" "EZH2_000135" "g.148526908A>G" "" "" "" "EZH2(NM_004456.4):c.396T>C (p.P132=), EZH2(NM_004456.5):c.396T>C (p.(Pro132=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000907879" "0" "70" "7" "148526835" "148526835" "delins" "0" "03779" "EZH2_000140" "g.148526835delinsTGTATGA" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000912680" "0" "30" "7" "148543704" "148543704" "dup" "0" "01804" "EZH2_000141" "g.148543704dup" "" "" "" "EZH2(NM_001203247.1):c.118-4dup (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929307" "0" "50" "7" "148524277" "148524277" "subst" "4.06815E-6" "02325" "EZH2_000142" "g.148524277G>A" "" "" "" "EZH2(NM_004456.5):c.707C>T (p.T236I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948877" "0" "10" "7" "148526807" "148526807" "subst" "0.00211398" "01804" "EZH2_000143" "g.148526807G>A" "" "" "" "EZH2(NM_001203247.1):c.484+13C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964486" "0" "50" "7" "148515009" "148515011" "del" "4.0623E-6" "02325" "EZH2_000127" "g.148515009_148515011del" "" "" "" "EZH2(NM_004456.4):c.1198_1200delAAA (p.(Lys400del)), EZH2(NM_004456.5):c.1198_1200delAAA (p.K400del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964487" "0" "50" "7" "148524325" "148524325" "subst" "1.21946E-5" "02325" "EZH2_000105" "g.148524325G>A" "" "" "" "EZH2(NM_001203247.1):c.659C>T (p.(Ser220Phe)), EZH2(NM_004456.5):c.659C>T (p.S220F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977564" "0" "30" "7" "148507774" "148507774" "subst" "0" "01804" "EZH2_000144" "g.148507774A>T" "" "" "" "EZH2(NM_004456.5):c.1948-268T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977565" "0" "30" "7" "148511116" "148511116" "subst" "0.000105603" "01804" "EZH2_000104" "g.148511116C>T" "" "" "" "EZH2(NM_004456.4):c.1786G>A (p.A596T), EZH2(NM_004456.5):c.1786G>A (p.(Ala596Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977566" "0" "30" "7" "148514959" "148514959" "subst" "5.69481E-5" "01804" "EZH2_000145" "g.148514959C>T" "" "" "" "EZH2(NM_004456.5):c.1240+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977567" "0" "50" "7" "148524308" "148524308" "subst" "0" "01804" "EZH2_000146" "g.148524308C>T" "" "" "" "EZH2(NM_004456.5):c.676G>A (p.(Ala226Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977568" "0" "50" "7" "148524350" "148524350" "subst" "0" "01804" "EZH2_000147" "g.148524350T>C" "" "" "" "EZH2(NM_004456.5):c.634A>G (p.(Ser212Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977569" "0" "30" "7" "148526908" "148526908" "subst" "0.00534062" "01804" "EZH2_000135" "g.148526908A>G" "" "" "" "EZH2(NM_004456.4):c.396T>C (p.P132=), EZH2(NM_004456.5):c.396T>C (p.(Pro132=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000985313" "0" "90" "7" "148526907" "148526907" "subst" "0" "03779" "EZH2_000148" "g.148526907A>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000985314" "0" "90" "7" "148526907" "148526907" "subst" "0" "03779" "EZH2_000148" "g.148526907A>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000985742" "11" "90" "7" "148523618" "148523618" "subst" "0" "00006" "EZH2_000086" "g.148523618G>A" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "Germline" "" "" "0" "" "" "g.148826526G>A" "" "pathogenic (dominant)" "" "0000996269" "0" "70" "7" "148504767" "148504767" "subst" "0" "01804" "EZH2_000149" "g.148504767C>T" "" "" "" "EZH2(NM_004456.4):c.2227G>A (p.(Gly743Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000996270" "0" "30" "7" "148513877" "148513877" "subst" "0" "01804" "EZH2_000150" "g.148513877A>G" "" "" "" "EZH2(NM_004456.4):c.1411-7T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996271" "0" "50" "7" "148514457" "148514457" "subst" "0" "01804" "EZH2_000151" "g.148514457T>C" "" "" "" "EZH2(NM_004456.4):c.1267A>G (p.(Ile423Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996272" "0" "30" "7" "148514468" "148514468" "subst" "0" "01804" "EZH2_000152" "g.148514468C>G" "" "" "" "EZH2(NM_004456.4):c.1256G>C (p.(Cys419Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996273" "0" "50" "7" "148515009" "148515011" "del" "4.0623E-6" "01804" "EZH2_000127" "g.148515009_148515011del" "" "" "" "EZH2(NM_004456.4):c.1198_1200delAAA (p.(Lys400del)), EZH2(NM_004456.5):c.1198_1200delAAA (p.K400del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014319" "0" "90" "7" "148506462" "148506462" "subst" "0" "02327" "EZH2_000023" "g.148506462G>A" "" "" "" "EZH2(NM_004456.4):c.2050C>T (p.R684C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001036186" "0" "50" "7" "148515109" "148515109" "subst" "0" "01804" "EZH2_000153" "g.148515109C>T" "" "" "" "EZH2(NM_004456.5):c.1100G>A (p.(Ser367Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036187" "0" "50" "7" "148543620" "148543620" "subst" "0" "01804" "EZH2_000154" "g.148543620C>T" "" "" "" "EZH2(NM_004456.5):c.188G>A (p.(Arg63Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036188" "0" "50" "7" "148544362" "148544362" "subst" "0" "01804" "EZH2_000155" "g.148544362T>C" "" "" "" "EZH2(NM_004456.5):c.29A>G (p.(Lys10Arg))" "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 EZH2 ## Count = 202 "{{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}}" "0000062913" "00023814" "10" "1852" "-21" "1852" "-21" "c.1852-21T>C" "r.(=)" "p.(=)" "15i" "0000062914" "00023814" "50" "2196" "-61" "2196" "-57" "c.2196-61_2196-57dup" "r.(?)" "p.(?)" "19i" "0000062915" "00023814" "10" "246" "37" "246" "37" "c.246+37T>C" "r.(=)" "p.(=)" "3i" "0000062916" "00023814" "10" "118" "-4" "118" "-4" "c.118-4del" "r.spl?" "p.?" "2i" "0000062917" "00023814" "10" "118" "-63" "118" "-63" "c.118-63G>A" "r.(=)" "p.(=)" "2i" "0000062918" "00023814" "90" "-168" "0" "-168" "0" "c.-168dup" "r.(?)" "p.(=)" "1" "0000062919" "00023814" "10" "1948" "-29" "1948" "-29" "c.1948-29dup" "r.(=)" "p.(=)" "16i" "0000062920" "00023814" "10" "553" "0" "553" "0" "c.553G>C" "r.(?)" "p.(Asp185His)" "6" "0000062921" "00023814" "10" "247" "-80" "247" "-80" "c.247-80G>A" "r.(=)" "p.(=)" "3i" "0000062922" "00023814" "90" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Tyr153Cys)" "5" "0000062923" "00023814" "10" "2110" "39" "2110" "39" "c.2110+39A>C" "r.(=)" "p.(=)" "18i" "0000062924" "00023814" "10" "2277" "0" "2277" "0" "c.*21del" "r.(?)" "p.(=)" "20" "0000075973" "00023814" "75" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Asn640)" "-" "0000075974" "00023814" "75" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Asn640)" "-" "0000075975" "00023814" "95" "1936" "0" "1936" "0" "c.1936T>A" "r.(?)" "p.(Tyr646Asn)" "16" "0000075976" "00023814" "95" "1936" "0" "1936" "0" "c.1936T>A" "r.(?)" "p.(Tyr646Asn)" "16" "0000075977" "00023814" "95" "1936" "0" "1936" "0" "c.1936T>C" "r.(?)" "p.(Tyr646His)" "16" "0000075978" "00023814" "95" "1936" "0" "1936" "0" "c.1936T>C" "r.(?)" "p.(Tyr646His)" "16" "0000075979" "00023814" "95" "1936" "0" "1936" "0" "c.1936T>C" "r.(?)" "p.(Tyr646His)" "16" "0000075980" "00023814" "95" "1936" "0" "1936" "0" "c.1936T>C" "r.(?)" "p.(Tyr646His)" "16" "0000075981" "00023814" "95" "1936" "0" "1936" "0" "c.1936T>C" "r.(?)" "p.(Tyr646His)" "16" "0000075982" "00023814" "95" "1936" "0" "1936" "0" "c.1936T>C" "r.(?)" "p.(Tyr646His)" "16" "0000075983" "00023814" "95" "1936" "0" "1936" "0" "c.1936T>C" "r.(?)" "p.(Tyr646His)" "16" "0000075984" "00023814" "95" "1937" "0" "1937" "0" "c.1937A>C" "r.(?)" "p.(Tyr646Ser)" "16" "0000075985" "00023814" "95" "73" "0" "73" "0" "c.73C>T" "r.(?)" "p.(Arg25*)" "2" "0000075986" "00023814" "95" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Gln58*)" "3" "0000075987" "00023814" "95" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Gln62*)" "3" "0000075988" "00023814" "95" "190" "0" "190" "0" "c.190dup" "r.(?)" "p.(Arg64Lysfs*18)" "3" "0000075989" "00023814" "95" "216" "0" "217" "0" "c.216_217del" "r.(?)" "p.(Ser73Cysfs*8)" "3" "0000075990" "00023814" "99" "394" "0" "394" "0" "c.394C>T" "r.(?)" "p.(Pro132Ser)" "5" "0000075991" "00023814" "79" "394" "0" "394" "0" "c.394C>T" "r.(?)" "p.(Pro132Ser)" "5" "0000075992" "00023814" "79" "398" "0" "398" "0" "c.398A>G" "r.(?)" "p.(Tyr133Cys)" "5" "0000075993" "00023814" "79" "398" "0" "398" "0" "c.398A>G" "r.(?)" "p.(Tyr133Cys)" "5" "0000075994" "00023814" "95" "401" "0" "401" "0" "c.401T>C" "r.(?)" "p.(Met134Thr)" "5" "0000075995" "00023814" "95" "434" "0" "434" "0" "c.434T>G" "r.(?)" "p.(Phe145Cys)" "5" "0000075996" "00023814" "95" "442" "0" "444" "0" "c.442_444dup" "r.(?)" "p.(Glu148dup)" "5" "0000075997" "00023814" "99" "457" "0" "459" "0" "c.457_459del" "r.(?)" "p.(Tyr153del)" "5" "0000075998" "00023814" "55" "553" "0" "553" "0" "c.553G>C" "r.(?)" "p.(Asp185His)" "6" "0000075999" "00023814" "55" "553" "0" "553" "0" "c.553G>C" "r.(?)" "p.(Asp185His)" "6" "0000076000" "00023814" "95" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Asp192Asn)" "6" "0000076001" "00023814" "95" "619" "0" "619" "0" "c.619C>T" "r.(?)" "p.(Arg207*)" "6" "0000076002" "00023814" "95" "727" "0" "727" "0" "c.727A>C" "r.(?)" "p.(Lys243Gln)" "7" "0000076003" "00023814" "95" "729" "-2" "729" "-2" "c.729-2del" "r.spl?" "p.?" "7i" "0000076004" "00023814" "95" "730" "0" "730" "0" "c.730T>G" "r.(?)" "p.(Tyr244Asp)" "8" "0000076005" "00023814" "55" "2230" "0" "2232" "0" "c.2230_2232dup" "r.(?)" "p.(Ile744dup)" "8" "0000076006" "00023814" "95" "745" "0" "745" "0" "c.745G>A" "r.(?)" "p.(Glu249Lys)" "8" "0000076007" "00023814" "95" "754" "0" "754" "0" "c.754C>G" "r.(?)" "p.(Leu252Val)" "8" "0000076008" "00023814" "95" "758" "0" "758" "0" "c.758dup" "r.(?)" "p.(Gly254Argfs*6)" "8" "0000076009" "00023814" "95" "763" "0" "763" "0" "c.763G>A" "r.(?)" "p.(Ala255Thr)" "8" "0000076010" "00023814" "95" "786" "0" "786" "0" "c.786dup" "r.(?)" "p.(Asn263Glnfs*8)" "8" "0000076011" "00023814" "95" "836" "0" "836" "0" "c.836A>G" "r.(?)" "p.(His279Arg)" "8" "0000076012" "00023814" "95" "863" "0" "863" "0" "c.863G>A" "r.(?)" "p.(Arg288Gln)" "8" "0000076013" "00023814" "95" "890" "0" "890" "0" "c.890A>G" "r.(?)" "p.(His297Arg)" "8" "0000076014" "00023814" "95" "949" "0" "949" "0" "c.949G>T" "r.(?)" "p.(Glu317*)" "9" "0000076015" "00023814" "95" "965" "0" "965" "0" "c.965A>G" "r.(?)" "p.(Asn322Ser)" "9" "0000076016" "00023814" "95" "982" "0" "982" "0" "c.982C>T" "r.(?)" "p.(Gln328*)" "9" "0000076017" "00023814" "95" "1033" "0" "1033" "0" "c.1033G>A" "r.(?)" "p.(Ala345Thr)" "10" "0000076018" "00023814" "95" "1176" "0" "1177" "0" "c.1176_1177del" "r.(?)" "p.(Glu392Aspfs*7)" "10" "0000076019" "00023814" "95" "1200" "0" "1203" "0" "c.1200_1203del" "r.(?)" "p.(Glu401Lysfs*22)" "10" "0000076020" "00023814" "95" "1513" "0" "1513" "0" "c.1513del" "r.(?)" "p.(Ala505Leufs*9)" "13" "0000076021" "00023814" "95" "1525" "0" "1525" "0" "c.1525A>G" "r.(?)" "p.(Arg509Gly)" "13" "0000076022" "00023814" "95" "1691" "0" "1691" "0" "c.1691del" "r.(?)" "p.(Gly564Aspfs*111)" "15" "0000076023" "00023814" "95" "1712" "0" "1712" "0" "c.1712G>A" "r.(?)" "p.(Cys571Tyr)" "15" "0000076024" "00023814" "95" "1728" "0" "1728" "0" "c.1728C>G" "r.(?)" "p.(Cys576Trp)" "15" "0000076025" "00023814" "95" "1774" "0" "1777" "0" "c.1774_1777del" "r.(?)" "p.(Thr592Valfs*82)" "15" "0000076026" "00023814" "95" "1876" "0" "1876" "0" "c.1876G>A" "r.(?)" "p.(Val626Met)" "16" "0000076027" "00023814" "95" "1915" "0" "1915" "0" "c.1915A>G" "r.(?)" "p.(Lys639Glu)" "16" "0000076028" "00023814" "95" "1966" "0" "1966" "0" "c.1966del" "r.(?)" "p.(Ala656Leufs*19)" "17" "0000076029" "00023814" "95" "1967" "0" "1967" "0" "c.1967C>T" "r.(?)" "p.(Ala656Val)" "17" "0000076030" "00023814" "95" "1978" "0" "1978" "0" "c.1978G>C" "r.(?)" "p.(Gly660Arg)" "17" "0000076031" "00023814" "95" "1987" "0" "1987" "0" "c.1987T>A" "r.(?)" "p.(Tyr663Asn)" "17" "0000076032" "00023814" "95" "1991" "0" "1991" "0" "c.1991A>T" "r.(?)" "p.(Asp664Val)" "17" "0000076033" "00023814" "55" "1991" "0" "1991" "0" "c.1991A>T" "r.(?)" "p.(Asp664Val)" "17" "0000076034" "00023814" "95" "1992" "0" "1992" "0" "c.1992T>A" "r.(?)" "p.(Asp664Glu)" "17" "0000076035" "00023814" "95" "1992" "0" "1992" "0" "c.1992T>G" "r.(?)" "p.(Asp664Glu)" "17" "0000076036" "00023814" "95" "1992" "0" "1997" "0" "c.1992_1997del" "r.(?)" "p.(Lys665_Tyr666del)" "17" "0000076037" "00023814" "95" "2044" "0" "2044" "0" "c.2044G>A" "r.(?)" "p.(Ala682Thr)" "18" "0000076038" "00023814" "95" "2050" "0" "2050" "0" "c.2050C>T" "r.(?)" "p.(Arg684Cys)" "18" "0000076039" "00023814" "95" "2050" "0" "2050" "0" "c.2050C>T" "r.(?)" "p.(Arg684Cys)" "18" "0000076040" "00023814" "75" "2050" "0" "2050" "0" "c.2050C>T" "r.(?)" "p.(Arg684Cys)" "18" "0000076041" "00023814" "95" "2050" "0" "2050" "0" "c.2050C>T" "r.(?)" "p.(Arg684Cys)" "18" "0000076042" "00023814" "75" "2050" "0" "2050" "0" "c.2050C>T" "r.(?)" "p.(Arg684Cys)" "18" "0000076043" "00023814" "75" "2050" "0" "2050" "0" "c.2050C>T" "r.(?)" "p.(Arg684Cys)" "18" "0000076044" "00023814" "95" "2054" "0" "2054" "0" "c.2054del" "r.(?)" "p.(Lys685Argfs*12)" "18" "0000076045" "00023814" "95" "2068" "0" "2068" "0" "c.2068C>T" "r.(?)" "p.(Arg690Cys)" "18" "0000076046" "00023814" "95" "2069" "0" "2069" "0" "c.2069G>A" "r.(?)" "p.(Arg690His)" "18" "0000076047" "00023814" "95" "2078" "0" "2078" "0" "c.2078A>T" "r.(?)" "p.(Asn693Ile)" "18" "0000076048" "00023814" "95" "2079" "0" "2079" "0" "c.2079T>A" "r.(?)" "p.(Asn693Lys)" "18" "0000076049" "00023814" "79" "2080" "0" "2080" "0" "c.2080C>T" "r.(?)" "p.(His694Tyr)" "18" "0000076050" "00023814" "95" "2084" "0" "2084" "0" "c.2084C>T" "r.(?)" "p.(Ser695Leu)" "18" "0000076051" "00023814" "95" "2138" "0" "2138" "0" "c.2138T>C" "r.(?)" "p.(Ile713Thr)" "19" "0000076052" "00023814" "95" "2187" "0" "2187" "0" "c.2187dup" "r.(?)" "p.(Asp730*)" "19" "0000076053" "00023814" "95" "2187" "0" "2187" "0" "c.2187dup" "r.(?)" "p.(Asp730*)" "19" "0000076054" "00023814" "95" "2191" "0" "2191" "0" "c.2191T>G" "r.(?)" "p.(Tyr731Asp)" "19" "0000076056" "00023814" "95" "2199" "0" "2199" "0" "c.2199C>A" "r.(?)" "p.(Tyr733*)" "20" "0000076057" "00023814" "95" "2199" "0" "2199" "0" "c.2199C>G" "r.(?)" "p.(Tyr733*)" "20" "0000076058" "00023814" "95" "2204" "0" "2211" "0" "c.2204_2211dup" "r.(?)" "p.(Ala738Argfs*5)" "20" "0000076059" "00023814" "95" "2222" "0" "2222" "0" "c.2222A>G" "r.(?)" "p.(Tyr741Cys)" "20" "0000076060" "00023814" "95" "2233" "0" "2233" "0" "c.2233G>A" "r.(?)" "p.(Glu745Lys)" "20" "0000079369" "00023814" "00" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(His279Tyr)" "" "0000079438" "00023814" "00" "2224" "0" "2224" "0" "c.2224G>A" "r.(?)" "p.(Val742Ile)" "" "0000134737" "00023814" "70" "2195" "647" "26895" "0" "c.2195+647_*24639del" "r.?" "p.?" "19i_20_" "0000249110" "00023814" "10" "118" "-4" "118" "-4" "c.118-4del" "r.spl?" "p.?" "" "0000331935" "00023814" "30" "1852" "-6" "1852" "-6" "c.1852-6C>T" "r.(=)" "p.(=)" "" "0000331937" "00023814" "50" "868" "0" "868" "0" "c.868T>G" "r.(?)" "p.(Phe290Val)" "" "0000343273" "00023814" "50" "2069" "0" "2069" "0" "c.2069G>A" "r.(?)" "p.(Arg690His)" "" "0000346435" "00023814" "70" "836" "0" "836" "0" "c.836A>G" "r.(?)" "p.(His279Arg)" "" "0000369006" "00023814" "90" "2050" "0" "2050" "0" "c.2050C>T" "r.(?)" "p.(Arg684Cys)" "" "0000531152" "00023814" "90" "2050" "0" "2050" "0" "c.2050C>T" "r.(?)" "p.(Arg684Cys)" "" "0000531153" "00023814" "30" "1852" "-6" "1852" "-6" "c.1852-6C>T" "r.(=)" "p.(=)" "" "0000531154" "00023814" "50" "1689" "0" "1689" "0" "c.1689G>A" "r.(?)" "p.(Pro563=)" "" "0000531155" "00023814" "50" "907" "5" "907" "5" "c.907+5G>A" "r.spl?" "p.?" "" "0000531156" "00023814" "50" "766" "0" "766" "0" "c.766C>G" "r.(?)" "p.(Leu256Val)" "" "0000531157" "00023814" "30" "657" "0" "657" "0" "c.657T>C" "r.(?)" "p.(Pro219=)" "" "0000531159" "00023814" "30" "552" "0" "554" "0" "c.552_554del" "r.(?)" "p.(Asp189del)" "" "0000531160" "00023814" "30" "485" "-7" "485" "-7" "c.485-7G>A" "r.(=)" "p.(=)" "" "0000531161" "00023814" "70" "475" "0" "475" "0" "c.475G>A" "r.(?)" "p.(Gly159Arg)" "" "0000531162" "00023814" "50" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Gly155Glu)" "" "0000531163" "00023814" "50" "134" "0" "134" "0" "c.134A>G" "r.(?)" "p.(Asn45Ser)" "" "0000531164" "00023814" "30" "118" "-4" "118" "-4" "c.118-4del" "r.spl?" "p.?" "" "0000610902" "00023814" "50" "1786" "0" "1786" "0" "c.1786G>A" "r.(?)" "p.(Ala596Thr)" "" "0000610903" "00023814" "30" "965" "0" "965" "0" "c.965A>G" "r.(?)" "p.(Asn322Ser)" "" "0000610904" "00023814" "50" "659" "0" "659" "0" "c.659C>T" "r.(?)" "p.(Ser220Phe)" "" "0000653337" "00023814" "90" "2188" "0" "2188" "0" "c.2188dup" "r.(?)" "p.(Asp730Glyfs*8)" "" "0000655777" "00023814" "30" "1731" "0" "1731" "0" "c.1731G>A" "r.(?)" "p.(Pro577=)" "" "0000660092" "00023814" "90" "1876" "0" "1876" "0" "c.1876G>A" "r.(?)" "p.(Val626Met)" "" "0000660123" "00023814" "90" "74" "0" "74" "0" "c.74G>A" "r.(?)" "p.(Arg25Gln)" "" "0000660124" "00023814" "90" "74" "0" "74" "0" "c.74G>A" "r.(?)" "p.(Arg25Gln)" "" "0000660125" "00023814" "90" "74" "0" "74" "0" "c.74G>A" "r.(?)" "p.(Arg25Gln)" "" "0000660126" "00023814" "90" "390" "0" "390" "0" "c.390C>A" "r.(?)" "p.(Asn130Lys)" "" "0000660127" "00023814" "90" "435" "0" "435" "0" "c.435C>G" "r.(?)" "p.(Phe145Leu)" "" "0000660128" "00023814" "90" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Glu148Lys)" "" "0000660129" "00023814" "90" "443" "0" "443" "0" "c.443A>G" "r.(?)" "p.(Glu148Gly)" "" "0000660130" "00023814" "90" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Tyr153Cys)" "" "0000660131" "00023814" "90" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Lys156Glu)" "" "0000660132" "00023814" "90" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Lys156Glu)" "" "0000660133" "00023814" "90" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Lys156Glu)" "" "0000660134" "00023814" "90" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Lys156Glu)" "" "0000660135" "00023814" "90" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Lys156Glu)" "" "0000660136" "00023814" "90" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Lys156Glu)" "" "0000660137" "00023814" "90" "475" "0" "475" "0" "c.475G>A" "r.(?)" "p.(Gly159Arg)" "" "0000660138" "00023814" "90" "698" "0" "698" "0" "c.698A>T" "r.(?)" "p.(Asp233Val)" "" "0000660139" "00023814" "90" "698" "0" "698" "0" "c.698A>T" "r.(?)" "p.(Asp233Val)" "" "0000660140" "00023814" "90" "1702" "0" "1702" "0" "c.1702A>G" "r.(?)" "p.(Lys568Glu)" "" "0000660141" "00023814" "90" "1852" "0" "1852" "0" "c.1852C>T" "r.(?)" "p.(His618Tyr)" "" "0000660142" "00023814" "90" "1955" "0" "1955" "0" "c.1955C>G" "r.(?)" "p.(Ser652Cys)" "" "0000660143" "00023814" "90" "1955" "0" "1955" "0" "c.1955C>G" "r.(?)" "p.(Ser652Cys)" "" "0000660144" "00023814" "90" "1961" "0" "1961" "0" "c.1961A>G" "r.(?)" "p.(Asp654Gly)" "" "0000660145" "00023814" "90" "1961" "0" "1961" "0" "c.1961A>G" "r.(?)" "p.(Asp654Gly)" "" "0000660146" "00023814" "90" "2017" "0" "2017" "0" "c.2017A>T" "r.(?)" "p.(Asn673Tyr)" "" "0000660147" "00023814" "90" "2051" "0" "2051" "0" "c.2051G>A" "r.(?)" "p.(Arg684His)" "" "0000660148" "00023814" "90" "2050" "0" "2050" "0" "c.2050C>T" "r.(?)" "p.(Arg684Cys)" "" "0000660149" "00023814" "90" "2050" "0" "2050" "0" "c.2050C>T" "r.(?)" "p.(Arg684Cys)" "" "0000660150" "00023814" "90" "2132" "0" "2132" "0" "c.2132A>G" "r.(?)" "p.(His711Arg)" "" "0000660151" "00023814" "90" "2200" "0" "2200" "0" "c.2200A>G" "r.(?)" "p.(Ser734Gly)" "" "0000660152" "00023814" "90" "2205" "0" "2205" "0" "c.2205G>C" "r.(?)" "p.(Gln735His)" "" "0000660153" "00023814" "90" "2196" "-15" "2196" "-2" "c.2196-15_2196-2del" "r.spl" "p.?" "" "0000660154" "00023814" "90" "2196" "-2" "2211" "0" "c.2196-2_2211dup" "r.spl?" "p.?" "" "0000660168" "00023814" "90" "0" "0" "0" "0" "c.2195+647_*274[0]" "r.?" "p.?" "" "0000673867" "00023814" "90" "2050" "0" "2050" "0" "c.2050C>T" "r.(?)" "p.(Arg684Cys)" "" "0000689940" "00023814" "50" "2195" "3" "2195" "3" "c.2195+3T>C" "r.spl?" "p.?" "" "0000689941" "00023814" "30" "1852" "-9" "1852" "-9" "c.1852-9A>G" "r.(=)" "p.(=)" "" "0000694218" "00023814" "90" "2050" "0" "2050" "0" "c.2050C>T" "r.(?)" "p.(Arg684Cys)" "" "0000694219" "00023814" "70" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(His279Tyr)" "" "0000698341" "00023814" "90" "2211" "0" "2211" "0" "c.2211dup" "r.(?)" "p.(Ala738Cysfs* 25)" "20" "0000704061" "00023814" "70" "457" "0" "457" "0" "c.457T>C" "r.(?)" "p.(Tyr153His)" "" "0000721332" "00023814" "30" "2110" "8" "2110" "8" "c.2110+8C>T" "r.(=)" "p.(=)" "" "0000721333" "00023814" "30" "1506" "-4" "1506" "-4" "c.1506-4G>A" "r.spl?" "p.?" "" "0000721334" "00023814" "30" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Ala487Thr)" "" "0000721335" "00023814" "50" "907" "5" "907" "5" "c.907+5G>A" "r.spl?" "p.?" "" "0000721336" "00023814" "10" "553" "0" "553" "0" "c.553G>C" "r.(?)" "p.(Asp185His)" "" "0000721337" "00023814" "30" "396" "0" "396" "0" "c.396T>C" "r.(?)" "p.(Pro132=)" "" "0000729932" "00023814" "90" "2233" "0" "2233" "0" "c.2233G>A" "r.(?)" "p.(Glu745Lys)" "" "0000802984" "00023814" "30" "1947" "11" "1947" "11" "c.1947+11dup" "r.(=)" "p.(=)" "" "0000851506" "00023814" "30" "2226" "0" "2226" "0" "c.2226C>T" "r.(?)" "p.(Val742=)" "" "0000851507" "00023814" "30" "247" "-10" "247" "-10" "c.247-10dup" "r.(=)" "p.(=)" "" "0000860681" "00023814" "30" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(Arg78=)" "" "0000887724" "00023814" "10" "396" "0" "396" "0" "c.396T>C" "r.(?)" "p.(Pro132=)" "" "0000907879" "00023814" "70" "469" "0" "469" "0" "c.469delinsTCATACA" "r.(?)" "p.(Val157delinsSerTyrIle)" "" "0000912680" "00023814" "30" "118" "-4" "118" "-4" "c.118-4dup" "r.spl?" "p.?" "" "0000929307" "00023814" "50" "707" "0" "707" "0" "c.707C>T" "r.(?)" "p.(Thr236Ile)" "" "0000948877" "00023814" "10" "484" "13" "484" "13" "c.484+13C>T" "r.(=)" "p.(=)" "" "0000964486" "00023814" "50" "1198" "0" "1200" "0" "c.1198_1200del" "r.(?)" "p.(Lys400del)" "" "0000964487" "00023814" "50" "659" "0" "659" "0" "c.659C>T" "r.(?)" "p.(Ser220Phe)" "" "0000977564" "00023814" "30" "1948" "-268" "1948" "-268" "c.1948-268T>A" "r.(=)" "p.(=)" "" "0000977565" "00023814" "30" "1786" "0" "1786" "0" "c.1786G>A" "r.(?)" "p.(Ala596Thr)" "" "0000977566" "00023814" "30" "1240" "10" "1240" "10" "c.1240+10G>A" "r.(=)" "p.(=)" "" "0000977567" "00023814" "50" "676" "0" "676" "0" "c.676G>A" "r.(?)" "p.(Ala226Thr)" "" "0000977568" "00023814" "50" "634" "0" "634" "0" "c.634A>G" "r.(?)" "p.(Ser212Gly)" "" "0000977569" "00023814" "30" "396" "0" "396" "0" "c.396T>C" "r.(?)" "p.(Pro132=)" "" "0000985313" "00023814" "90" "397" "0" "397" "0" "c.397T>C" "r.(?)" "p.(Tyr133His)" "" "0000985314" "00023814" "90" "397" "0" "397" "0" "c.397T>C" "r.(?)" "p.(Tyr133His)" "" "0000985742" "00023814" "90" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(His279Tyr)" "" "0000996269" "00023814" "70" "2227" "0" "2227" "0" "c.2227G>A" "r.(?)" "p.(Gly743Ser)" "" "0000996270" "00023814" "30" "1411" "-7" "1411" "-7" "c.1411-7T>C" "r.(=)" "p.(=)" "" "0000996271" "00023814" "50" "1267" "0" "1267" "0" "c.1267A>G" "r.(?)" "p.(Ile423Val)" "" "0000996272" "00023814" "30" "1256" "0" "1256" "0" "c.1256G>C" "r.(?)" "p.(Cys419Ser)" "" "0000996273" "00023814" "50" "1198" "0" "1200" "0" "c.1198_1200del" "r.(?)" "p.(Lys400del)" "" "0001014319" "00023814" "90" "2050" "0" "2050" "0" "c.2050C>T" "r.(?)" "p.(Arg684Cys)" "" "0001036186" "00023814" "50" "1100" "0" "1100" "0" "c.1100G>A" "r.(?)" "p.(Ser367Asn)" "" "0001036187" "00023814" "50" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Arg63Gln)" "" "0001036188" "00023814" "50" "29" "0" "29" "0" "c.29A>G" "r.(?)" "p.(Lys10Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 144 "{{screeningid}}" "{{variantid}}" "0000035788" "0000062913" "0000035789" "0000062914" "0000035790" "0000062915" "0000035791" "0000062916" "0000035792" "0000062917" "0000035793" "0000062918" "0000035794" "0000062919" "0000035795" "0000062920" "0000035796" "0000062921" "0000035797" "0000062922" "0000035798" "0000062923" "0000035799" "0000062924" "0000047304" "0000076003" "0000047305" "0000076017" "0000047306" "0000076018" "0000047307" "0000076019" "0000047308" "0000076020" "0000047309" "0000076021" "0000047310" "0000075985" "0000047310" "0000076022" "0000047311" "0000075986" "0000047311" "0000076023" "0000047312" "0000076024" "0000047313" "0000076025" "0000047314" "0000075987" "0000047315" "0000075988" "0000047316" "0000076028" "0000047317" "0000076006" "0000047317" "0000076029" "0000047318" "0000075989" "0000047318" "0000076030" "0000047319" "0000076032" "0000047320" "0000076036" "0000047320" "0000076052" "0000047321" "0000076034" "0000047322" "0000076035" "0000047323" "0000076038" "0000047324" "0000075996" "0000047324" "0000076039" "0000047325" "0000076044" "0000047326" "0000076045" "0000047327" "0000076046" "0000047328" "0000076047" "0000047329" "0000076048" "0000047330" "0000076051" "0000047331" "0000076053" "0000047332" "0000076054" "0000047333" "0000076056" "0000047334" "0000075995" "0000047335" "0000076000" "0000047336" "0000076001" "0000047337" "0000076002" "0000047338" "0000076007" "0000047339" "0000076008" "0000047340" "0000076009" "0000047341" "0000076004" "0000047341" "0000076013" "0000047342" "0000076012" "0000047343" "0000076014" "0000047344" "0000076015" "0000047345" "0000076016" "0000047346" "0000075977" "0000047347" "0000075978" "0000047348" "0000075975" "0000047349" "0000075984" "0000047350" "0000075979" "0000047351" "0000075980" "0000047352" "0000075981" "0000047353" "0000075982" "0000047354" "0000075976" "0000047355" "0000075983" "0000047356" "0000075973" "0000047357" "0000075974" "0000047358" "0000076010" "0000047359" "0000075997" "0000047360" "0000076049" "0000047361" "0000075990" "0000047362" "0000075991" "0000047363" "0000076040" "0000047364" "0000075992" "0000047365" "0000075993" "0000047366" "0000075998" "0000047367" "0000075999" "0000047368" "0000075994" "0000047369" "0000076011" "0000047370" "0000076026" "0000047371" "0000076027" "0000047372" "0000076031" "0000047373" "0000076033" "0000047374" "0000076037" "0000047375" "0000076041" "0000047376" "0000076042" "0000047377" "0000076043" "0000047378" "0000076050" "0000047379" "0000076057" "0000047380" "0000076059" "0000047381" "0000076060" "0000047382" "0000076058" "0000047384" "0000076005" "0000050389" "0000079369" "0000050458" "0000079438" "0000081966" "0000134737" "0000165344" "0000369006" "0000296648" "0000653337" "0000297490" "0000660092" "0000297520" "0000660123" "0000297521" "0000660124" "0000297522" "0000660125" "0000297523" "0000660126" "0000297524" "0000660127" "0000297525" "0000660128" "0000297526" "0000660129" "0000297527" "0000660130" "0000297528" "0000660131" "0000297529" "0000660132" "0000297530" "0000660133" "0000297531" "0000660134" "0000297532" "0000660135" "0000297533" "0000660136" "0000297534" "0000660137" "0000297535" "0000660138" "0000297536" "0000660139" "0000297537" "0000660140" "0000297538" "0000660141" "0000297539" "0000660142" "0000297540" "0000660143" "0000297541" "0000660144" "0000297542" "0000660145" "0000297543" "0000660146" "0000297544" "0000660147" "0000297545" "0000660148" "0000297546" "0000660149" "0000297547" "0000660150" "0000297548" "0000660151" "0000297549" "0000660152" "0000297550" "0000660153" "0000297551" "0000660154" "0000297564" "0000660168" "0000307272" "0000673867" "0000312614" "0000694218" "0000312615" "0000694219" "0000316191" "0000698341" "0000332650" "0000729932" "0000451825" "0000985742"