### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EHMT1) # 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}}" "EHMT1" "euchromatic histone-lysine N-methyltransferase 1" "9" "" "unknown" "NG_011776.1" "UD_132118706750" "" "http://www.LOVD.nl/EHMT1" "" "1" "24650" "79813" "607001" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/EHMT1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-10-15 23:15:45" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00006951" "EHMT1" "transcript variant 1" "001" "NM_024757.4" "" "NP_079033.4" "" "" "" "-37" "5071" "3897" "140513444" "140730579" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00212" "SCZD" "schizophrenia (SCZD)" "AD" "181500" "" "" "" "00006" "2013-09-24 21:08:12" "00006" "2021-12-10 21:51:32" "00668" "KLEFS" "Kleefstra syndrome (KLEFS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05769" "KLEFS1" "Kleefstra syndrome, type 1 (KLEFS1)" "AD" "610253" "" "" "" "00006" "2020-06-12 11:38:53" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "EHMT1" "00139" "EHMT1" "00668" "EHMT1" "05769" ## Individuals ## Do not remove or alter this header ## ## Count = 66 "{{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}}" "00050529" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00052109" "" "" "" "1" "" "00006" "{PMID:Kleefstra 2006:16826528}, {PMID:Kleefstra 2006:10.1086/505693}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Netherlands" "" "0" "" "" "" "" "00052111" "" "" "" "1" "" "00006" "{PMID:Kleefstra 2006:16826528}, {PMID:Kleefstra 2006:10.1086/505693}" "2-generation family, 1 affected, unaffected non-carrier parents/sibs" "F" "no" "(Netherlands)" "" "0" "" "" "" "" "00052114" "" "" "" "1" "" "00006" "{PMID:Kleefstra 2006:16826528}, {PMID:Kleefstra 2006:10.1086/505693}" "" "" "" "(Netherlands)" "" "0" "" "" "" "" "00052115" "" "" "" "1" "" "00006" "{PMID:Kleefstra 2006:16826528}, {PMID:Kleefstra 2006:10.1086/505693}" "" "" "" "(Netherlands)" "" "0" "" "" "" "" "00052116" "" "" "" "1" "" "00006" "{PMID:Kleefstra 2006:16826528}, {PMID:Kleefstra 2006:10.1086/505693}" "" "" "" "(Netherlands)" "" "0" "" "" "" "" "00052117" "" "" "" "1" "" "00006" "{PMID:Kleefstra 2009:19264732}, {PMID:Kleefstra 2009:10.1136/jmg.2008.062950}" "" "F" "" "" "" "0" "" "" "" "" "00052118" "" "" "" "1" "" "00006" "{PMID:Kleefstra 2009:19264732}, {PMID:Kleefstra 2009:10.1136/jmg.2008.062950}" "" "F" "" "" "" "0" "" "" "" "" "00052119" "" "" "" "1" "" "00006" "{PMID:Kleefstra 2009:19264732}, {PMID:Kleefstra 2009:10.1136/jmg.2008.062950}" "" "M" "" "" "" "0" "" "" "" "" "00052120" "" "" "" "1" "" "00006" "{PMID:Kleefstra 2009:19264732}, {PMID:Kleefstra 2009:10.1136/jmg.2008.062950}" "" "F" "" "" "" "0" "" "" "" "" "00052121" "" "" "" "1" "" "00006" "{PMID:Kleefstra 2009:19264732}, {PMID:Kleefstra 2009:10.1136/jmg.2008.062950}" "" "F" "" "" "" "0" "" "" "" "" "00052122" "" "" "" "1" "" "00006" "{PMID:Kleefstra 2009:19264732}, {PMID:Kleefstra 2009:10.1136/jmg.2008.062950}" "" "M" "" "" "" "0" "" "" "" "" "00052123" "" "" "" "1" "" "00006" "{PMID:Kleefstra 2009:19264732}, {PMID:Kleefstra 2009:10.1136/jmg.2008.062950}" "" "M" "" "" "" "0" "" "" "" "" "00052124" "" "" "" "1" "" "00006" "{PMID:Kleefstra 2009:19264732}, {PMID:Kleefstra 2009:10.1136/jmg.2008.062950}" "" "F" "" "" "" "0" "" "" "" "" "00052125" "" "" "" "1" "" "00006" "{PMID:Kleefstra 2009:19264732}, {PMID:Kleefstra 2009:10.1136/jmg.2008.062950}" "" "F" "" "" "" "0" "" "" "" "" "00052126" "" "" "" "1" "" "00006" "{PMID:Kleefstra 2009:19264732}, {PMID:Kleefstra 2009:10.1136/jmg.2008.062950}" "" "F" "" "" "" "0" "" "" "" "" "00052127" "" "" "" "1" "" "00006" "{PMID:Kleefstra 2009:19264732}, {PMID:Kleefstra 2009:10.1136/jmg.2008.062950}" "" "M" "" "" "" "0" "" "" "" "" "00052128" "" "" "" "1" "" "00006" "{PMID:Kleefstra 2009:19264732}, {PMID:Kleefstra 2009:10.1136/jmg.2008.062950}" "" "M" "" "" "" "0" "" "" "" "" "00052129" "" "" "" "1" "" "00006" "{PMID:Kleefstra 2009:19264732}, {PMID:Kleefstra 2009:10.1136/jmg.2008.062950}" "" "M" "" "" "" "0" "" "" "" "" "00151555" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00289293" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00289425" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00289432" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00296848" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00307736" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411373" "00307943" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:28940097}" "familial" "M" "" "" "" "0" "" "" "" "17DG0766" "00311437" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "263844" "00311438" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "279847" "00311439" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "278970" "00311440" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "270822" "00311441" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "265109" "00311442" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "270428" "00311443" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "270426" "00311498" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "279673" "00311499" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "271868" "00311500" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "272991" "00311501" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "260952" "00311502" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "277920" "00315029" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1405" "00315051" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1431" "00320166" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00324676" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "169067" "00325868" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00328552" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "175109" "00334943" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "161151" "00373344" "" "" "" "1" "" "03132" "" "" "" "no" "China" "" "" "" "" "" "" "00373345" "" "" "" "1" "" "03132" "" "" "F" "no" "China" "" "" "" "" "" "" "00373346" "" "" "" "1" "" "03132" "" "" "F" "no" "China" "" "" "" "" "" "" "00373347" "" "" "" "1" "" "03132" "" "" "M" "no" "" "" "" "" "" "" "" "00373348" "" "" "" "1" "" "03132" "" "" "F" "no" "China" "" "" "" "" "" "" "00373349" "" "" "" "1" "" "03132" "" "" "M" "no" "China" "" "" "" "" "" "" "00373350" "" "" "" "1" "" "03132" "" "" "M" "no" "China" "" "" "" "" "" "" "00411922" "" "" "" "1" "" "01164" "" "" "M" "?" "Turkey" "" "0" "" "" "" "199204" "00413392" "" "" "" "1" "" "00006" "{PMID:Gong 2021:33834462}" "" "" "" "China" "" "0" "" "" "" "Pat1" "00413393" "" "" "" "1" "" "00006" "{PMID:Gong 2021:33834462}" "" "" "" "China" "" "0" "" "" "" "Pat2" "00413394" "" "" "" "1" "" "00006" "{PMID:Gong 2021:33834462}" "" "" "" "China" "" "0" "" "" "" "Pat3" "00435335" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "263280" "00447993" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "283478" "00450457" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00455160" "" "" "" "1" "" "00006" "{PMID:Kimura 2016:27595554}" "analysis of cohort of schizophrenia and autism spectrum disorder cases" "" "" "Japan" "" "0" "" "" "" "" "00455161" "" "" "" "1" "" "00006" "{PMID:Kimura 2016:27595554}" "analysis of cohort of schizophrenia and autism spectrum disorder cases" "" "" "Japan" "" "0" "" "" "" "" "00455162" "" "" "" "5" "" "00006" "{PMID:Kimura 2016:27595554}" "analysis of cohort of schizophrenia and autism spectrum disorder cases" "" "" "Japan" "" "0" "" "" "" "" "00457994" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00458266" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00459419" "" "" "" "1" "" "00006" "{PMID:Bayam 2024:39609633}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Italy" "" "0" "" "" "Cilento" "Fam4PatII1" "00459420" "" "" "" "1" "" "00006" "{PMID:Bayam 2024:39609633}" "sister" "F" "yes" "Italy" "" "0" "" "" "Cilento" "Fam4PatII3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 66 "{{individualid}}" "{{diseaseid}}" "00050529" "00198" "00052109" "00668" "00052111" "00668" "00052114" "00668" "00052115" "00668" "00052116" "00668" "00052117" "00668" "00052118" "00668" "00052119" "00668" "00052120" "00668" "00052121" "00668" "00052122" "00668" "00052123" "00668" "00052124" "00668" "00052125" "00668" "00052126" "00668" "00052127" "00668" "00052128" "00668" "00052129" "00668" "00151555" "00198" "00289293" "00198" "00289425" "00198" "00289432" "00198" "00296848" "00198" "00307736" "00139" "00307943" "00139" "00311437" "00198" "00311438" "00198" "00311439" "00198" "00311440" "00198" "00311441" "00198" "00311442" "00198" "00311443" "00198" "00311498" "00198" "00311499" "00198" "00311500" "00198" "00311501" "00198" "00311502" "00198" "00315029" "00198" "00315051" "00198" "00320166" "00198" "00324676" "05769" "00325868" "00198" "00328552" "05769" "00334943" "05769" "00373344" "05769" "00373345" "05769" "00373346" "05769" "00373347" "05769" "00373348" "05769" "00373349" "05769" "00373350" "05769" "00411922" "05769" "00413392" "00668" "00413393" "00668" "00413394" "00668" "00435335" "05769" "00447993" "00668" "00450457" "00198" "00455160" "00138" "00455161" "00138" "00455162" "00212" "00457994" "05611" "00458266" "05162" "00459419" "05611" "00459420" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00139, 00198, 00212, 00668, 05162, 05611, 05769 ## Count = 53 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037141" "00198" "00050529" "00006" "Isolated (sporadic)" "" "microcephaly, abnormality of the iris, hypertelorism, epicanthus, smooth philtrum, irregularly spaced teeth, short neck, single transverse palmar crease, sleep disturbance" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038731" "00668" "00052109" "00006" "Isolated (sporadic)" "04y" "9q subtelomeric deletion syndrome; no obesity, no microcephaly, brachycephaly, flat face, midface hypoplasia, coarse facies, hypertelorism, no synophrys, no downslant palpebral fissures, upslant palpebral fissures, no arched eyebrows, no short nose, no anteverted nostrils, carp mouth/tented lip, no macroglossia/tongue protrusion, no natal teeth, thick/everted lower lip, pointed chin/prognathism, malformed ears, no brachydactyly, simian crease, normal genitals, cardiac anomaly, no anal atresia, no alopecia, depigmentation, no renal cysts, no hydronephrosis, no behavioral problems, no sleep disturbances, no hearing loss, hypotonia, seizures" "" "" "" "" "" "" "severe" "" "" "" "" "" "" "0000038732" "00668" "00052111" "00006" "Isolated (sporadic)" "16y" "9q subtelomeric deletion syndrome; obesity, no microcephaly, brachycephaly, flat face, midface hypoplasia, no coarse facies, no hypertelorism, synophrys, no downslant palpebral fissures, no upslant palpebral fissures, no arched eyebrows, no short nose, no anteverted nostrils, carp mouth/tented lip, no macroglossia/tongue protrusion, no natal teeth, thick/everted lower lip, pointed chin/prognathism, normal ears, brachydactyly, no simian crease, normal genitals, no cardiac anomaly, no anal atresia, no alopecia, depigmentation, no renal cysts, no hydronephrosis, behavioral problems, sleep disturbances, no hearing loss, hypotonia, no seizures" "" "" "" "" "" "" "severe" "" "" "" "" "" "" "0000038733" "00668" "00052114" "00006" "Isolated (sporadic)" "01y06m" "9q subtelomeric deletion syndrome; no obesity, no microcephaly, brachycephaly, flat face, midface hypoplasia, no coarse facies, hypertelorism, no synophrys, no downslant palpebral fissures, upslant palpebral fissures, no arched eyebrows, short nose, anteverted nostrils, carp mouth/tented lip, no macroglossia/tongue protrusion, no natal teeth, thick/everted lower lip, no pointed chin/prognathism, normal ears, no brachydactyly, no simian crease, normal genitals, no cardiac anomaly, no anal atresia, no alopecia, no depigmentation, no renal cysts, no hydronephrosis, no behavioral problems, no sleep disturbances, no hearing loss, hypotonia, no seizures" "" "" "" "" "" "" "severe" "" "" "" "" "" "" "0000038734" "00668" "00052115" "00006" "Isolated (sporadic)" "36y" "9q subtelomeric deletion syndrome; obesity, no microcephaly, brachycephaly, flat face, midface hypoplasia, coarse facies, hypertelorism, synophrys, no downslant palpebral fissures, upslant palpebral fissures, no arched eyebrows, short nose, anteverted nostrils, no carp mouth/tented lip, macroglossia/tongue protrusion, no natal teeth, thick/everted lower lip, pointed chin/prognathism, malformed ears, brachydactyly, no simian crease, normal genitals, no cardiac anomaly, no anal atresia, no alopecia, no depigmentation, no renal cysts, no hydronephrosis, behavioral problems, no sleep disturbances, no hearing loss, hypotonia, seizures" "" "" "" "" "" "" "severe" "" "" "" "" "" "" "0000038735" "00668" "00052116" "00006" "Isolated (sporadic)" "08y" "9q subtelomeric deletion syndrome; no obesity, no microcephaly, brachycephaly, flat face, midface hypoplasia, coarse facies, hypertelorism, no synophrys, no downslant palpebral fissures, upslant palpebral fissures, no arched eyebrows, short nose, anteverted nostrils, no carp mouth/tented lip, no macroglossia/tongue protrusion, no natal teeth, thick/everted lower lip, no pointed chin/prognathism, malformed ears, brachydactyly, simian crease, abnormal genitals (males), no cardiac anomaly, no anal atresia, no alopecia, depigmentation, no renal cysts, no hydronephrosis, behavioral problems, no sleep disturbances, no hearing loss, hypotonia, no seizures" "" "" "" "" "" "" "severe" "" "" "" "" "" "" "0000038736" "00668" "00052117" "00006" "Isolated (sporadic)" "03y" "9q subtelomeric deletion syndrome; weight >>99th, height >>99th, OFC 50th; childhood hypotonia, facial dysmorphism; no heart defect, no epilepsy, MRI-abnormal myelination; disturbed sleep pattern, self mutilation, hyperphagia; 17m-walk, 5y-speech few words" "" "weight 4380 (95th)" "" "" "" "" "yes" "" "" "" "" "" "" "0000038737" "00668" "00052118" "00006" "Isolated (sporadic)" "13y" "9q subtelomeric deletion syndrome; weight 95th, height 50th, OFC 50th; childhood hypotonia, facial dysmorphism; patent FO (closed spontaneously), no epilepsy, constipation incontinent for urine/faeces, MRI-normal; temper tantrums/tics, rigid and ritualistic behaviour, apathic/depressive behaviour with loss of all interests since age 13 years; walk-30m; speech 3–4 words" "" "weight 4000 (90th)" "" "" "" "" "severe" "" "" "" "" "" "" "0000038738" "00668" "00052119" "00006" "Isolated (sporadic)" "07y" "9q subtelomeric deletion syndrome; weight 90th, height 90th, OFC 16th; childhood hypotonia, facial dysmorphism; no heart defect, First at age 7, generalised with right posterior focal onset, , MRI-mildly enlarged ventricles; poor eye contact, teeth grinding (all improving); walk-2y, jumping/running-7y; speech 3y-5 words, 7y->100 words" "" "weight 3822 (75-90th)" "" "" "" "" "yes" "" "" "" "" "" "" "0000038739" "00668" "00052120" "00006" "Isolated (sporadic)" "07y" "9q subtelomeric deletion syndrome; weight 90th, height 75th, OFC 90th; childhood hypotonia, facial dysmorphism; pulmonary stenosis, no epilepsy; 8y-glue ear requiring grommets, hypermobile joints, delayed secondary dentition; MRI-normal myelination, normal ventricles, some prominence of sylvian fissures with frontal lobe hypoplasia; trusting and friendly personality; walk-3y, 7y cannot run, unable to ride bicycle; some speech, in general \'signs\'" "" "weight 4100 (90th)" "" "" "" "" "severe" "" "" "" "" "" "" "0000038740" "00668" "00052121" "00006" "Isolated (sporadic)" "02y07m" "9q subtelomeric deletion syndrome; weight 50th, height 84th, OFC <2nd; childhood hypotonia, facial dysmorphism; no heart defect, no epilepsy, MRI-normal; autism spectrum; walked22m; no speech" "" "weight 2495 (<5th)" "" "" "" "" "yes" "" "" "" "" "" "" "0000038741" "00668" "00052122" "00006" "Isolated (sporadic)" "03y" "9q subtelomeric deletion syndrome; OFC <2nd; childhood hypotonia, facial dysmorphism; no heart defect, no epilepsy, gastro-oesophageal reflux, cryptorchidism (prenatal NT), MRI-corpus callosum hypoplasia; autism spectrum" "" "weight 2690 (<5th)" "" "" "" "" "mild" "" "" "" "" "" "" "0000038742" "00668" "00052123" "00006" "Isolated (sporadic)" "04y" "9q subtelomeric deletion syndrome; childhood hypotonia, facial dysmorphism; ventricular septum defect aortic coarctation, no epilepsy, micropenis, cryptorchidism, vesico-ureteral reflux, hearing loss inguinal, peri-umbilical and epigastric hernia, MRI-mildly dilated ventricles, reduction in white matter volume; frustration and tantrums; severely delayed; speech only few words, uses signing and picture cards" "" "weight 3200 (25th), OFC 33cm (2nd)" "" "" "" "" "" "" "" "" "" "" "" "0000038743" "00668" "00052124" "00006" "Isolated (sporadic)" "04y" "9q subtelomeric deletion syndrome; weight 50th, height 2-16th; childhood hypotonia, facial dysmorphism; innocent murmur, no epilepsy, MRI-normal; psychiatric symptoms, behavioral features" "" "weight 4500 (>95th)" "" "" "" "" "yes" "" "" "" "" "" "" "0000038744" "00668" "00052125" "00006" "Isolated (sporadic)" "04y" "9q subtelomeric deletion syndrome; weight >95th, height >>95th, OFC 50th; childhood hypotonia, facial dysmorphism; Tetralogy of Fallot, no epilepsy, mixed hearing loss, umbilical hernia" "" "weight 3800 (75-90th)" "" "" "" "" "" "" "" "" "" "" "" "0000038745" "00668" "00052126" "00006" "Isolated (sporadic)" "52y" "9q subtelomeric deletion syndrome; weight 50th, height 2nd, OFC 0.6th; childhood hypotonia, facial dysmorphism; no heart defect, Absences tonic-clonic insults, scoliosis, MRI-small pons, slight central atrophy of both hemispheres (peg examination); disturbed sleep pattern, aggressive outbursts, active and passive periods ; regression, sit-18m, walk-4y; speech few words when young (papa, mama, car)" "" "weight normal" "" "" "" "" "yes" "" "" "" "" "" "" "0000038746" "00668" "00052127" "00006" "Isolated (sporadic)" "07y" "9q subtelomeric deletion syndrome; weight 2nd, height 2nd, OFC 5th; childhood hypotonia, facial dysmorphism; no heart defect, no epilepsy, tracheo-/bronchomalacia, chronic renal insufficiency, MRI-small brainstem; no walk-7y; speech 7y-3 words" "" "weight 50th" "" "" "" "" "yes" "" "" "" "" "" "" "0000038747" "00668" "00052128" "00006" "Isolated (sporadic)" "08y" "9q subtelomeric deletion syndrome; weight 99.6th, height 98th, OFC 16th; childhood hypotonia, facial dysmorphism; innocent murmur, complex partial seizures, inguinal and umbilical hernia, MRI-increased csf spaces over frontal lobes and sylvian fissures compatible with atrophy; hyperactive, aggressive outbursts, temper tantrums, disturbed sleep pattern, autistic traits, hand flapping; delayed, sit-11m, walk2.5y; speech many single words, some phrases, short sentences" "" "weight 3650 (50-75th)" "" "" "" "" "yes" "" "" "" "" "" "" "0000038748" "00668" "00052129" "00006" "Isolated (sporadic)" "20y" "9q subtelomeric deletion syndrome; weight 50th, height 3rd, OFC 50th; childhood hypotonia, facial dysmorphism; no heart defect, abnormal EEG, no epilepsy, Hearing loss, small ears, small hands, supernumerary nipples, cryptorchidism, MRI-normal; psychoses passiveness; 16y-temporary regression, dementia-like" "" "weight 4350 (>90th)" "" "" "" "" "" "" "" "" "" "" "" "0000123926" "00198" "00151555" "01807" "Unknown" "" "Intellectual disability, mild (HP:0001256); Autistic behavior (HP:0000729); Sensorineural hearing impairment (HP:0000407); Cryptorchidism (HP:0000028)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000222924" "00198" "00289293" "01164" "Unknown" "" "Abnormality of movement (HP:0100022); Intellectual disability (HP:0001249); Generalized seizures (HP:0002197); Language impairment (HP:0002463); Abnormality of the nervous system (HP:0000707)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223037" "00198" "00289425" "01807" "Unknown" "" "Microcephaly (HP:0000252); Coarse facial features (HP:0000280); Hypertelorism (HP:0000316); Anteverted nares (HP:0000463); Soft skin (HP:0000977); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Nail dystrophy (HP:0008404); Stereotypical hand wringing (HP:0012171)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223044" "00198" "00289432" "01807" "Unknown" "" "Intellectual disability (HP:0001249); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Dilated cardiomyopathy (HP:0001644)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000224245" "00198" "00296848" "01164" "Unknown" "" "Intellectual disability (HP:0001249); Neurodevelopmental delay (HP:0012758); Abnormal facial shape (HP:0001999); Abnormality of the head (HP:0000234); Abnormality of the ocular region (HP:0000284); Hypertelorism (HP:0000316); Abnormality of the outer ear (HP:0000356); Delayed speech and language development (HP:0000750); External ear malformation (HP:0008572)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000233366" "00139" "00307943" "00006" "Familial, autosomal dominant" "" "see paper; ..., Intellectual disability, severe, Autism, Motor delay, Absent speech, Abnormal facial shape" "" "" "" "" "" "" "" "" "" "" "" "intellectual diability" "" "0000236683" "00198" "00311437" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236684" "00198" "00311438" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236685" "00198" "00311439" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236686" "00198" "00311440" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236687" "00198" "00311441" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236688" "00198" "00311442" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236689" "00198" "00311443" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236744" "00198" "00311498" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236745" "00198" "00311499" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236746" "00198" "00311500" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236747" "00198" "00311501" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236748" "00198" "00311502" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000238781" "00198" "00315029" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" "chromatinopathy" "" "0000238803" "00198" "00315051" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "chromatinopathy" "" "0000242212" "00198" "00320166" "01807" "Unknown" "" "Synophrys (HP:0000664); Stereotypy (HP:0000733); Intellectual disability (HP:0001249); Global developmental delay (HP:0001263); Developmental regression (HP:0002376)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000243176" "05769" "00324676" "01164" "Unknown" "" "(+) Abnormality of the nervous system,(+) Behavioral abnormality,(+) Intellectual disability,(+) Seizure,(+) Abnormality of higher mental function,(+) Abnormal nervous system physiology,(+) Abnormal nervous system morphology,(+) Neurodevelopmental abnormality,(+) Diminished ability to concentrate" "" "" "20y" "" "" "" "" "" "" "" "" "" "" "0000244355" "00198" "00325868" "01807" "Unknown" "" "Sensorineural hearing impairment (HP:0000407); Visual impairment (HP:0000505); Behavioral abnormality (HP:0000708); Intellectual disability (HP:0001249); Episodic vomiting (HP:0002572)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000246780" "05769" "00328552" "01164" "Unknown" "01y" "(+) Hearing abnormality,(+) Hearing impairment,(+) Delayed speech and language development,(+) Global developmental delay,(+) Absent speech,(+) Neurological speech impairment,(+) Neurodevelopmental delay ; sister also affected, not tested" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000252692" "05769" "00334943" "01164" "Unknown" "04y" "Clinical suspicion of Sotos syndrome, tall, overweight, facial dysmorphia (large long head, large forehead, epicanthus, puffy tent-like lips, small teeth with gaps). Rather clumsy large hands, no weakness in drinking as a baby," "" "" "" "" "" "" "" "" "" "" "" "" "" "0000303948" "05769" "00411922" "01164" "Isolated (sporadic)" "02y" "Microcephaly, Short attention span, Delayed speech and language development, Global developmental delay, Plagiocephaly" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000305370" "00668" "00413392" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000325532" "05769" "00435335" "01164" "Isolated (sporadic)" "02y" "Hypotonia, Motor delay,Joint hypermobility,High hypermetropia,Neurodevelopmental delay, Pectus excavatum, Behavioral problems" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337182" "00668" "00447993" "01164" "Isolated (sporadic)" "02y" "Neurodevelopmental delay, Premature birth, Pulmonic stenosis, Hypomimic face, Delayed speech and language development, Motor delay, Hypotonia, EEG abnormality" "" "" "" "" "" "" "yes" "" "" "" "" "" "" "0000339517" "00198" "00450457" "03544" "Isolated (sporadic)" "" "HP:0000248, HP:0000290, HP:0000286, HP:0000422, HP:0000194, HP:0010490, HP:0001028" "" "" "" "" "" "" "" "" "" "" "KLEFS1" "complex neurodevelopmental disorder" "" "0000346444" "05611" "00457994" "03544" "Isolated (sporadic)" "" "HP:0001249, HP:0001513, HP:0000717, HP:0001252, HP:0000750" "" "" "" "" "" "" "" "" "" "" "KLEFS1" "neurodevelopmental disorder" "" "0000346703" "05162" "00458266" "03544" "Isolated (sporadic)" "" "HP:0001263, HP:0000271" "" "" "" "" "" "" "" "" "" "" "KLEFS1" "" "" "0000347495" "05611" "00459419" "00006" "Familial, autosomal recessive" "1y5m" "see paperp; C-section due to failure dilatation uterine cervix; birth 40w, elective C-section, weight 3.52kg, length 52cm, OFC 35cm; weight 8,6kg (-1 SD), length 78cm (+1.5 SD), OFC 42.9cm (-2.69 SD); profound global development delay; bedridden; speech global hyporeactivity; ultrasound brain birth-hypoplasia corpus callosum, hypotrophy pon/midbrain, colpocephaly and supratentorial cortical atrophy, diffuse hypomyelination with quantitative reduction white matter; EEG continuous spikes, polyspikes, spikes-waves and polyspikes-waves on the bilateral parietal - occipital central - temporal regions, intermittent light stimulation is negative, multifocal paroxysmal activity in disorganized pattern; coordination very poor; marked hypotonia; no hyperreflexia; no ataxia; normal sensory; profound intellectual disability; clonic seizures first year treated with antiepileptic drugs; no autism; severe psychomotor retardation; hypertelorism, epicanthus, hyper thick upper and lower lips; no anomalies extremities; significant feeding difficulty; no hert defects" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000347496" "05611" "00459420" "00006" "Familial, autosomal recessive" "6m" "see paper; ..., pregnancy unremarkable; birth 40w, elective C-section, weight 3.35kg, length 51cm, OFC 35cm; weight 5kg (-1 SD), length 70cm (+1 SD), OFC 40cm (-1.93 SD); profound global development dela; bedridden; speech no meaningful words; ultrasound brain birth-hypoplasia corpus callosum, hypotrophy pon/midbrain, colpocephaly and supratentorial cortical atrophy, diffuse hypomyelination with quantitative reduction white matter; EEG continuous spikes, polyspikes, spikes-waves and polyspikes-waves on the bilateral parietal - occipital central - temporal regions, intermittent light stimulation is negative, multifocal paroxysmal activity in disorganized pattern; coordination very poor; marked hypotonia; no hyperreflexia; no ataxia; normal sensory; profound intellectual disability; clonic seizures first year treated with antiepileptic drugs; no autism; severe psychomotor retardation; hypertelorism, epicanthus, hyper thick upper and lower lips; no anomalies extremities; significant feeding difficulty; no hert defects" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 66 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050474" "00050529" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000052058" "00052109" "1" "00006" "00006" "2015-10-15 23:55:48" "" "" "SEQ" "DNA" "" "" "0000052059" "00052111" "1" "00006" "00006" "2015-10-16 00:07:32" "" "" "SEQ" "DNA" "" "" "0000052062" "00052114" "1" "00006" "00006" "2015-10-16 00:21:28" "" "" "MLPA;PCR" "DNA" "" "" "0000052063" "00052115" "1" "00006" "00006" "2015-10-16 10:20:45" "" "" "FISH;MLPA;PCR" "DNA" "" "" "0000052064" "00052116" "1" "00006" "00006" "2015-10-16 10:41:51" "" "" "FISH;MLPA;PCR" "DNA" "" "" "0000052065" "00052117" "1" "00006" "00006" "2015-10-16 11:37:53" "" "" "MLPA;SEQ" "DNA" "" "" "0000052066" "00052118" "1" "00006" "00006" "2015-10-16 11:48:35" "" "" "MLPA;SEQ" "DNA" "" "" "0000052067" "00052119" "1" "00006" "00006" "2015-10-16 11:54:44" "" "" "MLPA;SEQ" "DNA" "" "" "0000052068" "00052120" "1" "00006" "00006" "2015-10-16 12:01:50" "" "" "MLPA;SEQ" "DNA" "" "" "0000052069" "00052121" "1" "00006" "00006" "2015-10-16 12:10:12" "" "" "MLPA;SEQ" "DNA" "" "" "0000052070" "00052122" "1" "00006" "00006" "2015-10-16 12:15:24" "" "" "SEQ" "DNA" "" "" "0000052071" "00052123" "1" "00006" "00006" "2015-10-16 12:32:42" "" "" "MLPA" "DNA" "" "" "0000052072" "00052124" "1" "00006" "00006" "2015-10-16 12:48:46" "" "" "MLPA" "DNA" "" "" "0000052073" "00052125" "1" "00006" "00006" "2015-10-16 13:03:23" "" "" "MLPA" "DNA" "" "" "0000052074" "00052126" "1" "00006" "00006" "2015-10-16 13:52:20" "" "" "MLPA" "DNA" "" "" "0000052075" "00052127" "1" "00006" "00006" "2015-10-16 14:01:41" "" "" "MLPA" "DNA" "" "" "0000052076" "00052128" "1" "00006" "00006" "2015-10-16 14:54:47" "" "" "arraySNP" "DNA" "" "" "0000052077" "00052129" "1" "00006" "00006" "2015-10-16 15:12:53" "" "" "MLPA" "DNA" "" "" "0000152410" "00151555" "0" "01807" "01807" "2018-01-20 12:41:56" "" "" "SEQ" "DNA" "" "" "0000290463" "00289293" "1" "01164" "01164" "2020-03-02 12:26:51" "" "" "SEQ-NG-S" "DNA" "" "" "0000290595" "00289425" "1" "01807" "01807" "2020-03-09 11:34:06" "" "" "SEQ" "DNA" "" "" "0000290602" "00289432" "1" "01807" "01807" "2020-03-09 11:34:22" "" "" "SEQ" "DNA" "" "" "0000297958" "00296848" "1" "01164" "01164" "2020-04-14 14:10:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000308876" "00307736" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000309087" "00307943" "1" "00006" "00006" "2020-08-23 13:31:08" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical WES" "0000312607" "00311437" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312608" "00311438" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312609" "00311439" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312610" "00311440" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312611" "00311441" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312612" "00311442" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312613" "00311443" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312668" "00311498" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312669" "00311499" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312670" "00311500" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312671" "00311501" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312672" "00311502" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000316205" "00315029" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel" "0000316227" "00315051" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel" "0000321351" "00320166" "1" "01807" "01807" "2020-11-23 17:39:01" "" "" "SEQ" "DNA" "" "" "0000325884" "00324676" "1" "01164" "01164" "2020-12-22 17:28:21" "" "" "SEQ-NG-I" "DNA" "" "" "0000327078" "00325868" "1" "01807" "01807" "2021-01-04 12:39:02" "" "" "SEQ" "DNA" "" "" "0000329768" "00328552" "1" "01164" "01164" "2021-01-29 12:29:57" "" "" "SEQ-NG-I" "DNA" "" "" "0000336176" "00334943" "1" "01164" "01164" "2021-03-02 14:25:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000374579" "00373344" "1" "03132" "03132" "2021-05-14 07:21:47" "" "" "SEQ-NG-I" "DNA" "" "" "0000374580" "00373345" "1" "03132" "03132" "2021-05-14 07:36:23" "" "" "SEQ-NG-I" "DNA" "" "" "0000374581" "00373346" "1" "03132" "03132" "2021-05-14 07:40:24" "" "" "SEQ-NG-I" "DNA" "" "" "0000374582" "00373347" "1" "03132" "03132" "2021-05-14 07:45:23" "" "" "SEQ-NG-I" "DNA" "" "" "0000374583" "00373348" "1" "03132" "03132" "2021-05-14 07:48:58" "" "" "SEQ-NG-I" "DNA" "" "" "0000374584" "00373349" "1" "03132" "03132" "2021-05-14 07:53:01" "" "" "SEQ-NG-I" "DNA" "" "" "0000374585" "00373350" "1" "03132" "03132" "2021-05-14 07:57:51" "" "" "SEQ-NG-I" "DNA" "" "" "0000413194" "00411922" "1" "01164" "01164" "2022-06-20 12:30:50" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000414669" "00413392" "1" "00006" "00006" "2022-07-17 11:35:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000414670" "00413393" "1" "00006" "00006" "2022-07-17 11:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000414671" "00413394" "1" "00006" "00006" "2022-07-17 11:39:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES CNV-seq" "0000436816" "00435335" "1" "01164" "01164" "2023-07-11 12:23:29" "" "" "SEQ-NG-I" "DNA" "" "" "0000449566" "00447993" "1" "01164" "01164" "2024-02-08 11:12:44" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000452053" "00450457" "1" "03544" "03544" "2024-05-27 12:34:28" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000456773" "00455160" "1" "00006" "00006" "2024-10-02 18:27:02" "" "" "SEQ" "DNA" "" "" "0000456774" "00455161" "1" "00006" "00006" "2024-10-02 18:27:02" "" "" "SEQ" "DNA" "" "" "0000456775" "00455162" "1" "00006" "00006" "2024-10-02 18:27:02" "" "" "SEQ" "DNA" "" "" "0000459614" "00457994" "1" "03544" "03544" "2024-11-24 18:01:59" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000459888" "00458266" "1" "03544" "03544" "2024-12-12 11:08:50" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000461042" "00459419" "1" "00006" "00006" "2024-12-27 14:26:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461043" "00459420" "1" "00006" "00006" "2024-12-27 14:26:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 42 "{{screeningid}}" "{{geneid}}" "0000050474" "EHMT1" "0000052058" "EHMT1" "0000052059" "EHMT1" "0000052062" "EHMT1" "0000052063" "CACNA1B" "0000052063" "EHMT1" "0000052064" "EHMT1" "0000052065" "EHMT1" "0000052066" "EHMT1" "0000052067" "EHMT1" "0000052068" "EHMT1" "0000052069" "EHMT1" "0000052070" "EHMT1" "0000052071" "EHMT1" "0000052072" "EHMT1" "0000052073" "EHMT1" "0000052074" "EHMT1" "0000052075" "EHMT1" "0000052076" "EHMT1" "0000052077" "EHMT1" "0000308876" "EHMT1" "0000309087" "EHMT1" "0000312607" "EHMT1" "0000312608" "EHMT1" "0000312609" "EHMT1" "0000312610" "EHMT1" "0000312611" "EHMT1" "0000312612" "EHMT1" "0000312613" "EHMT1" "0000312668" "EHMT1" "0000312669" "EHMT1" "0000312670" "EHMT1" "0000312671" "EHMT1" "0000312672" "EHMT1" "0000316205" "EHMT1" "0000316227" "EHMT1" "0000325884" "EHMT1" "0000329768" "EHMT1" "0000336176" "EHMT1" "0000413194" "EHMT1" "0000436816" "EHMT1" "0000449566" "EHMT1" ## 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 = 274 "{{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}}" "0000079454" "0" "90" "9" "140638504" "140638506" "delins" "0" "00006" "EHMT1_000001" "g.140638504_140638506delTCinsT" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "Variant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "g.137744052_137744054delinsT" "" "pathogenic" "" "0000081498" "0" "90" "9" "140712552" "140712552" "subst" "0" "00006" "EHMT1_000002" "g.140712552C>T" "1/23 cases" "{PMID:Kleefstra 2006:16826528}, {PMID:Kleefstra 2006:10.1086/505693}, {OMIM607001:0001}" "" "3409C>T (R1137X)" "" "De novo" "-" "rs121918301" "0" "" "" "g.137818100C>T" "" "pathogenic" "" "0000081499" "0" "90" "9" "140652375" "140652387" "del" "0" "00006" "EHMT1_000003" "g.140652375_140652387del" "1/23 cases" "{PMID:Kleefstra 2006:16826528}, {PMID:Kleefstra 2006:10.1086/505693}, {OMIM607001:0002}" "" "1320_1332del13 (P442fs)" "" "De novo" "-" "rs137852715" "0" "" "" "g.137757923_137757935del" "" "pathogenic" "" "0000081501" "0" "90" "9" "140500096" "141019076" "" "0" "00006" "EHMT1_000000" "g.(140484665_140500096)_(141019076_?)del" "1/23 cases" "{PMID:Kleefstra 2006:16826528}, {PMID:Kleefstra 2006:10.1086/505693}" "" "" "deletion incl. ARRDC1, C9ORF37, EHMT1, CACNA1B, AK128414, XM_932717 and AK092558 (not deleted ZMYND19-ex1)" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000081503" "0" "90" "9" "140500096" "140811883" "" "0" "00006" "EHMT1_000000" "g.(140484665_140500096)_(140811883_140852139)del" "1/23 cases" "{PMID:Kleefstra 2006:16826528}, {PMID:Kleefstra 2006:10.1086/505693}" "" "" "380kb deletion incl. ARRDC1, C9ORF37, EHMT1 and AK128414 (not deleted ZMYND19-ex1, CACNA1B-ex11)" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000081504" "0" "90" "9" "0" "0" "" "0" "00006" "EHMT1_000000" "g.(139821000_140447000)_(pter)del" "1/23 cases" "{PMID:Kleefstra 2006:16826528}, {PMID:Kleefstra 2006:10.1086/505693}" "" "" "deletion exceeding size critical region 9q subtelomeric deletion syndrome defined elsewhere, breakpoint between TRAF2 and MRPL41 towards telemore" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000081505" "0" "90" "9" "140674086" "140674086" "subst" "0" "00006" "EHMT1_000004" "g.140674086G>C" "" "{PMID:Kleefstra 2009:19264732}, {PMID:Kleefstra 2009:10.1136/jmg.2008.062950}" "" "2100-1G>C" "" "De novo" "" "" "0" "" "" "g.137779634G>C" "" "pathogenic" "" "0000081506" "0" "90" "9" "140707457" "140707457" "subst" "0" "00006" "EHMT1_000005" "g.140707457G>A" "" "{PMID:Kleefstra 2009:19264732}, {PMID:Kleefstra 2009:10.1136/jmg.2008.062950}" "" "2775-1G>A" "" "De novo" "" "" "0" "" "" "g.137813005G>A" "" "pathogenic" "" "0000081507" "0" "90" "9" "140637870" "140637870" "subst" "0" "00006" "EHMT1_000006" "g.140637870C>T" "" "{PMID:Kleefstra 2009:19264732}, {PMID:Kleefstra 2009:10.1136/jmg.2008.062950}, {OMIM607001:0004}" "" "778C>T (Arg260X)" "" "Unknown" "" "rs137852714" "0" "" "" "g.137743418C>T" "" "pathogenic" "" "0000081508" "0" "70" "9" "140708920" "140708920" "subst" "0" "00006" "EHMT1_000007" "g.140708920G>A" "" "{PMID:Kleefstra 2009:19264732}, {PMID:Kleefstra 2009:10.1136/jmg.2008.062950}, {OMIM607001:0003}" "" "3125G>A (Cys1042Tyr)" "" "Germline" "" "rs137852726" "0" "" "" "g.137814468G>A" "" "likely pathogenic" "" "0000081509" "0" "90" "9" "140657158" "140657161" "del" "0" "00006" "EHMT1_000008" "g.140657158_140657161del" "" "{PMID:Kleefstra 2009:19264732}, {PMID:Kleefstra 2009:10.1136/jmg.2008.062950}" "" "1440_1443del (Asp481fs)" "" "Unknown" "" "" "0" "" "" "g.137762706_137762709del" "" "pathogenic" "" "0000081510" "0" "90" "9" "140671088" "140671088" "subst" "0" "00006" "EHMT1_000009" "g.140671088C>T" "" "{PMID:Kleefstra 2009:19264732}, {PMID:Kleefstra 2009:10.1136/jmg.2008.062950}" "" "1717C>T (Gln573X )" "" "Unknown" "" "" "0" "" "" "g.137776636C>T" "" "pathogenic" "" "0000081511" "0" "90" "9" "137970000" "141020000" "" "0" "00006" "EHMT1_000000" "g.(?_137970000)_(141020000_141040000)del" "" "{PMID:Kleefstra 2009:19264732}, {PMID:Kleefstra 2009:10.1136/jmg.2008.062950}" "" "" "3.1Mb deletion from OLFM1 to CACNA1B" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000081512" "0" "90" "9" "139780000" "140772000" "" "0" "00006" "EHMT1_000000" "g.(138015000_139780000)_(140772000_141019000)del" "" "{PMID:Kleefstra 2009:19264732}, {PMID:Kleefstra 2009:10.1136/jmg.2008.062950}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000081513" "0" "90" "9" "140512500" "140731000" "" "0" "00006" "EHMT1_000000" "g.(140485000_140512500)_(140731000_140770000)del" "" "{PMID:Kleefstra 2009:19264732}, {PMID:Kleefstra 2009:10.1136/jmg.2008.062950}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000081514" "0" "90" "9" "139780000" "140731000" "del" "0" "00006" "EHMT1_000000" "g.(138015000_139780000)_(140731000_140770000)del" "" "{PMID:Kleefstra 2009:19264732}, {PMID:Kleefstra 2009:10.1136/jmg.2008.062950}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000081515" "0" "90" "9" "140669560" "140712590" "" "0" "00006" "EHMT1_000000" "g.(140652464_140669560)_(140712590_147310000)del" "" "{PMID:Kleefstra 2009:19264732}, {PMID:Kleefstra 2009:10.1136/jmg.2008.062950}" "" "" "60kb deletion exons 11-25 (ex 9 normal)" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000081516" "0" "90" "9" "140476000" "140512500" "" "0" "00006" "EHMT1_000000" "g.(140450000_140476000)_(140512500_140669560)del" "" "{PMID:Kleefstra 2009:19264732}, {PMID:Kleefstra 2009:10.1136/jmg.2008.062950}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000081517" "0" "90" "9" "140476000" "140770000" "" "0" "00006" "EHMT1_000000" "g.(140450000_140476000)_(140770000_140850000)del" "" "{PMID:Kleefstra 2009:19264732}, {PMID:Kleefstra 2009:10.1136/jmg.2008.062950}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000267786" "0" "10" "9" "140638461" "140638461" "subst" "0.393728" "02325" "EHMT1_000015" "g.140638461T>C" "" "" "" "EHMT1(NM_024757.5):c.1089T>C (p.G363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137744009T>C" "" "benign" "" "0000267787" "0" "30" "9" "140711880" "140711881" "del" "0" "02325" "EHMT1_000056" "g.140711880_140711881del" "" "" "" "EHMT1(NM_024757.5):c.3375-11_3375-10delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137817428_137817429del" "" "likely benign" "" "0000267788" "0" "50" "9" "140711891" "140711891" "subst" "6.09786E-5" "02325" "EHMT1_000065" "g.140711891G>C" "" "" "" "EHMT1(NM_024757.4):c.3375G>C (p.R1125S), EHMT1(NM_024757.5):c.3375G>C (p.R1125S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137817439G>C" "" "VUS" "" "0000268783" "0" "90" "9" "140695428" "140695428" "subst" "0" "02329" "EHMT1_000058" "g.140695428C>T" "" "" "" "EHMT1(NM_024757.5):c.2704C>T (p.R902*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137800976C>T" "" "pathogenic" "" "0000268784" "0" "70" "9" "140728837" "140728837" "subst" "0" "02329" "EHMT1_000067" "g.140728837G>A" "" "" "" "EHMT1(NM_024757.5):c.3577G>A (p.G1193R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137834385G>A" "" "likely pathogenic" "" "0000271105" "0" "90" "9" "140706022" "140706022" "subst" "0" "02326" "EHMT1_000059" "g.140706022C>A" "" "" "" "EHMT1(NM_024757.5):c.2822C>A (p.S941*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137811570C>A" "" "pathogenic" "" "0000271106" "0" "90" "9" "140707519" "140707519" "subst" "0" "02326" "EHMT1_000042" "g.140707519C>T" "" "" "" "EHMT1(NM_024757.5):c.2929C>T (p.Q977*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137813067C>T" "" "pathogenic" "" "0000276007" "0" "30" "9" "140652364" "140652364" "subst" "0.000101528" "01943" "EHMT1_000016" "g.140652364G>A" "" "" "" "EHMT1(NM_024757.4):c.1402G>A (p.A468T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137757912G>A" "" "likely benign" "" "0000276008" "0" "90" "9" "140611236" "140611236" "del" "0" "01943" "EHMT1_000010" "g.140611236del" "" "" "" "EHMT1(NM_024757.4):c.244delC (p.Q82Rfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137716784del" "" "pathogenic" "" "0000276009" "0" "90" "9" "140707848" "140707848" "subst" "0" "01943" "EHMT1_000046" "g.140707848C>T" "" "" "" "EHMT1(NM_024757.4):c.3046C>T (p.R1016*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137813396C>T" "" "pathogenic" "" "0000276010" "0" "30" "9" "140707883" "140707883" "subst" "2.44988E-5" "01943" "EHMT1_000061" "g.140707883C>T" "" "" "" "EHMT1(NM_024757.4):c.3081C>T (p.N1027=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137813431C>T" "" "likely benign" "" "0000276011" "0" "30" "9" "140707992" "140707992" "subst" "0.00494202" "01943" "EHMT1_000062" "g.140707992G>T" "" "" "" "EHMT1(NM_024757.4):c.3180+10G>T, EHMT1(NM_024757.5):c.3180+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137813540G>T" "" "likely benign" "" "0000276012" "0" "30" "9" "140708954" "140708954" "subst" "6.65962E-5" "01943" "EHMT1_000063" "g.140708954C>T" "" "" "" "EHMT1(NM_024757.4):c.3252C>T (p.Y1084=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137814502C>T" "" "likely benign" "" "0000276013" "0" "30" "9" "140710461" "140710461" "subst" "1.63635E-5" "01943" "EHMT1_000064" "g.140710461C>T" "" "" "" "EHMT1(NM_024757.4):c.3321C>T (p.H1107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137816009C>T" "" "likely benign" "" "0000276014" "0" "30" "9" "140611346" "140611346" "subst" "0.000438974" "01943" "EHMT1_000012" "g.140611346T>G" "" "" "" "EHMT1(NM_024757.4):c.354T>G (p.S118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137716894T>G" "" "likely benign" "" "0000276015" "0" "30" "9" "140729243" "140729243" "subst" "0.00140392" "01943" "EHMT1_000068" "g.140729243C>T" "" "" "" "EHMT1(NM_024757.4):c.3735C>T (p.R1245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137834791C>T" "" "likely benign" "" "0000276016" "0" "10" "9" "140611518" "140611518" "subst" "0.00188673" "01943" "EHMT1_000013" "g.140611518C>T" "" "" "" "EHMT1(NM_024757.4):c.526C>T (p.P176S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137717066C>T" "" "benign" "" "0000332966" "0" "30" "9" "140611221" "140611221" "subst" "4.88035E-5" "01804" "EHMT1_000075" "g.140611221G>A" "" "" "" "EHMT1(NM_001145527.1):c.229G>A (p.(Ala77Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137716769G>A" "" "likely benign" "" "0000332967" "0" "30" "9" "140611263" "140611263" "subst" "0.000382077" "01804" "EHMT1_000011" "g.140611263A>T" "" "" "" "EHMT1(NM_024757.5):c.271A>T (p.(Ile91Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137716811A>T" "" "likely benign" "" "0000332969" "0" "30" "9" "140637821" "140637821" "subst" "0" "01804" "EHMT1_000014" "g.140637821A>T" "" "" "" "EHMT1(NM_001145527.1):c.824-2A>T (p.?), EHMT1(NM_024757.5):c.824-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137743369A>T" "" "likely benign" "" "0000332971" "0" "50" "9" "140707560" "140707560" "subst" "0.000761605" "01804" "EHMT1_000104" "g.140707560G>T" "" "" "" "EHMT1(NM_024757.4):c.2970G>T (p.Q990H, p.(Gln990His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137813108G>T" "" "VUS" "" "0000332972" "0" "50" "9" "140711908" "140711908" "subst" "6.50221E-5" "01804" "EHMT1_000108" "g.140711908A>G" "" "" "" "EHMT1(NM_024757.4):c.3392A>G (p.(Tyr1131Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137817456A>G" "" "VUS" "" "0000332973" "0" "50" "9" "140729392" "140729392" "subst" "0" "01804" "EHMT1_000113" "g.140729392C>T" "" "" "" "EHMT1(NM_024757.4):c.3884C>T (p.(Ala1295Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137834940C>T" "" "VUS" "" "0000336565" "0" "90" "9" "140657168" "140657168" "subst" "0" "01807" "EHMT1_000017" "g.140657168C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.137762716C>T" "" "pathogenic" "" "0000337204" "0" "90" "9" "140707626" "140707626" "subst" "0" "02327" "EHMT1_000045" "g.140707626G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137813174G>A" "" "pathogenic" "" "0000337205" "0" "90" "9" "140710397" "140710397" "subst" "0" "02327" "EHMT1_000052" "g.140710397A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137815945A>G" "" "pathogenic" "" "0000339426" "0" "10" "9" "140611436" "140611436" "subst" "0.289017" "02327" "EHMT1_000020" "g.140611436T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137716984T>C" "" "benign" "" "0000339427" "0" "10" "9" "140611472" "140611472" "subst" "0.0021184" "02327" "EHMT1_000022" "g.140611472C>T" "" "" "" "EHMT1(NM_024757.4):c.480C>T (p.G160=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137717020C>T" "" "benign" "" "0000339429" "0" "10" "9" "140638416" "140638416" "subst" "0.203728" "02327" "EHMT1_000029" "g.140638416G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137743964G>A" "" "benign" "" "0000339430" "0" "10" "9" "140648742" "140648742" "subst" "0.0701361" "02327" "EHMT1_000030" "g.140648742C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137754290C>T" "" "benign" "" "0000339431" "0" "10" "9" "140671147" "140671147" "subst" "0.0127177" "02327" "EHMT1_000034" "g.140671147C>T" "" "" "" "EHMT1(NM_024757.5):c.1869C>T (p.(Asn623=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137776695C>T" "" "benign" "" "0000339432" "0" "30" "9" "140672457" "140672457" "subst" "8.12486E-6" "02327" "EHMT1_000035" "g.140672457A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137778005A>G" "" "likely benign" "" "0000341327" "0" "90" "9" "140622981" "140622981" "subst" "0" "02327" "EHMT1_000027" "g.140622981G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137728529G>A" "" "pathogenic" "" "0000341478" "0" "30" "9" "140611141" "140611141" "subst" "4.10634E-6" "02327" "EHMT1_000019" "g.140611141C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137716689C>G" "" "likely benign" "" "0000341479" "0" "10" "9" "140611140" "140611140" "subst" "0.00411938" "02327" "EHMT1_000018" "g.140611140G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137716688G>A" "" "benign" "" "0000341647" "0" "30" "9" "140707552" "140707552" "subst" "8.14253E-5" "02327" "EHMT1_000043" "g.140707552G>A" "" "" "" "EHMT1(NM_024757.5):c.2962G>A (p.A988T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137813100G>A" "" "likely benign" "" "0000341664" "0" "90" "9" "140707848" "140707848" "subst" "0" "02327" "EHMT1_000046" "g.140707848C>T" "" "" "" "EHMT1(NM_024757.4):c.3046C>T (p.R1016*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137813396C>T" "" "pathogenic" "" "0000342399" "0" "90" "9" "140622894" "140622894" "subst" "0" "02327" "EHMT1_000026" "g.140622894C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137728442C>T" "" "pathogenic" "" "0000343560" "0" "50" "9" "140710424" "140710424" "subst" "0" "02327" "EHMT1_000053" "g.140710424A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137815972A>G" "" "VUS" "" "0000344231" "0" "70" "9" "140708886" "140708886" "subst" "0" "02327" "EHMT1_000050" "g.140708886T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137814434T>G" "" "likely pathogenic" "" "0000344461" "0" "50" "9" "140685322" "140685322" "subst" "2.03028E-5" "02327" "EHMT1_000037" "g.140685322G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137790870G>C" "" "VUS" "" "0000344496" "0" "90" "9" "140708931" "140708931" "subst" "0" "02327" "EHMT1_000051" "g.140708931C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137814479C>T" "" "pathogenic" "" "0000344992" "0" "90" "9" "140693346" "140693346" "subst" "0" "02327" "EHMT1_000039" "g.140693346C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137798894C>T" "" "pathogenic" "" "0000345021" "0" "90" "9" "140707519" "140707519" "subst" "0" "02327" "EHMT1_000042" "g.140707519C>T" "" "" "" "EHMT1(NM_024757.5):c.2929C>T (p.Q977*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137813067C>T" "" "pathogenic" "" "0000346028" "0" "10" "9" "140638461" "140638461" "subst" "0.393728" "02327" "EHMT1_000015" "g.140638461T>C" "" "" "" "EHMT1(NM_024757.5):c.1089T>C (p.G363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137744009T>C" "" "benign" "" "0000347298" "0" "70" "9" "140674158" "140674158" "subst" "0" "02327" "EHMT1_000036" "g.140674158T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137779706T>G" "" "likely pathogenic" "" "0000347434" "0" "30" "9" "140611474" "140611474" "subst" "0" "02327" "EHMT1_000023" "g.140611474A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137717022A>G" "" "likely benign" "" "0000348273" "0" "50" "9" "140611615" "140611615" "subst" "1.67426E-5" "02327" "EHMT1_000024" "g.140611615C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137717163C>T" "" "VUS" "" "0000350234" "0" "10" "9" "140707889" "140707889" "subst" "0.012556" "02327" "EHMT1_000048" "g.140707889G>A" "" "" "" "EHMT1(NM_024757.5):c.3087G>A (p.(Val1029=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137813437G>A" "" "benign" "" "0000350916" "0" "30" "9" "140711874" "140711874" "subst" "0" "02327" "EHMT1_000054" "g.140711874T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137817422T>C" "" "likely benign" "" "0000350917" "0" "30" "9" "140711877" "140711878" "ins" "0" "02327" "EHMT1_000055" "g.140711877_140711878insA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137817425_137817426insA" "" "likely benign" "" "0000537590" "0" "30" "9" "140508745" "140508745" "subst" "0.00768415" "01804" "ARRDC1_000001" "g.140508745C>T" "" "" "" "ARRDC1(NM_152285.2):c.619-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137614293C>T" "" "likely benign" "" "0000537592" "0" "30" "9" "140509239" "140509239" "subst" "0.00263104" "01804" "ARRDC1_000004" "g.140509239C>T" "" "" "" "ARRDC1(NM_152285.2):c.1024C>T (p.(Arg342Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137614787C>T" "" "likely benign" "" "0000537597" "0" "30" "9" "140605441" "140605441" "subst" "1.36536E-5" "01804" "EHMT1_000070" "g.140605441C>T" "" "" "" "EHMT1(NM_001145527.1):c.44C>T (p.(Pro15Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137710989C>T" "" "likely benign" "" "0000537599" "0" "30" "9" "140611141" "140611141" "subst" "7.39141E-5" "01804" "EHMT1_000071" "g.140611141C>T" "" "" "" "EHMT1(NM_001145527.1):c.149C>T (p.(Ala50Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137716689C>T" "" "likely benign" "" "0000537600" "0" "30" "9" "140611151" "140611151" "subst" "5.31185E-5" "01804" "EHMT1_000073" "g.140611151G>T" "" "" "" "EHMT1(NM_001145527.1):c.159G>T (p.(Glu53Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137716699G>T" "" "likely benign" "" "0000537603" "0" "30" "9" "140611472" "140611472" "subst" "0.0021184" "01943" "EHMT1_000022" "g.140611472C>T" "" "" "" "EHMT1(NM_024757.4):c.480C>T (p.G160=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137717020C>T" "" "likely benign" "" "0000537604" "0" "30" "9" "140611570" "140611570" "subst" "1.66459E-5" "01804" "EHMT1_000077" "g.140611570C>T" "" "" "" "EHMT1(NM_001145527.1):c.578C>T (p.(Ala193Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137717118C>T" "" "likely benign" "" "0000537605" "0" "30" "9" "140611616" "140611616" "subst" "3.3491E-5" "01943" "EHMT1_000078" "g.140611616G>A" "" "" "" "EHMT1(NM_024757.4):c.624G>A (p.P208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137717164G>A" "" "likely benign" "" "0000537606" "0" "30" "9" "140611623" "140611623" "subst" "0.000134208" "01943" "EHMT1_000079" "g.140611623G>A" "" "" "" "EHMT1(NM_024757.4):c.631G>A (p.V211I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137717171G>A" "" "likely benign" "" "0000537607" "0" "30" "9" "140622895" "140622895" "subst" "0.000852736" "01804" "EHMT1_000080" "g.140622895G>A" "" "" "" "EHMT1(NM_001145527.1):c.737G>A (p.(Arg246Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137728443G>A" "" "likely benign" "" "0000537608" "0" "50" "9" "140637821" "140637823" "del" "0" "01804" "EHMT1_000081" "g.140637821_140637823del" "" "" "" "EHMT1(NM_001145527.1):c.824-2_824del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137743369_137743371del" "" "VUS" "" "0000537610" "0" "30" "9" "140637822" "140637822" "subst" "0" "01804" "EHMT1_000083" "g.140637822G>T" "" "" "" "EHMT1(NM_001145527.1):c.824-1G>T (p.?), EHMT1(NM_024757.5):c.824-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137743370G>T" "" "likely benign" "" "0000537611" "0" "30" "9" "140637826" "140637826" "subst" "0" "01804" "EHMT1_000084" "g.140637826G>T" "" "" "" "EHMT1(NM_001145527.1):c.827G>T (p.(Cys276Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137743374G>T" "" "likely benign" "" "0000537612" "0" "50" "9" "140637826" "140637827" "del" "0" "01804" "EHMT1_000085" "g.140637826_140637827del" "" "" "" "EHMT1(NM_001145527.1):c.827_828del (p.(Cys276PhefsTer21))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137743374_137743375del" "" "VUS" "" "0000537614" "0" "30" "9" "140637830" "140637830" "subst" "0" "01804" "EHMT1_000087" "g.140637830G>T" "" "" "" "EHMT1(NM_001145527.1):c.831G>T (p.(Leu277Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137743378G>T" "" "likely benign" "" "0000537615" "0" "30" "9" "140637830" "140637832" "del" "0" "01804" "EHMT1_000088" "g.140637830_140637832del" "" "" "" "EHMT1(NM_001145527.1):c.831_833del (p.(Leu277_Pro278delinsPhe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137743378_137743380del" "" "likely benign" "" "0000537616" "0" "30" "9" "140637831" "140637831" "subst" "0" "01804" "EHMT1_000089" "g.140637831C>T" "" "" "" "EHMT1(NM_001145527.1):c.832C>T (p.(Pro278Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137743379C>T" "" "likely benign" "" "0000537617" "0" "30" "9" "140637832" "140637832" "subst" "0" "01804" "EHMT1_000090" "g.140637832C>T" "" "" "" "EHMT1(NM_001145527.1):c.833C>T (p.(Pro278Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137743380C>T" "" "likely benign" "" "0000537618" "0" "30" "9" "140637836" "140637837" "ins" "0" "01804" "EHMT1_000091" "g.140637836_140637837insTTTTTTTT" "" "" "" "EHMT1(NM_001145527.1):c.833_834insTTTTTTTT (p.(Val280PhefsTer5))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137743384_137743385insTTTTTTTT" "" "likely benign" "" "0000537619" "0" "30" "9" "140637837" "140637837" "subst" "0" "01943" "EHMT1_000092" "g.140637837G>T" "" "" "" "EHMT1(NM_024757.4):c.838G>T (p.V280F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137743385G>T" "" "likely benign" "" "0000537620" "0" "30" "9" "140637904" "140637904" "subst" "0.000203085" "01804" "EHMT1_000093" "g.140637904A>G" "" "" "" "EHMT1(NM_001145527.1):c.905A>G (p.(Lys302Arg)), EHMT1(NM_024757.4):c.905A>G (p.K302R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137743452A>G" "" "likely benign" "" "0000537621" "0" "30" "9" "140637931" "140637931" "subst" "7.71555E-5" "02325" "EHMT1_000094" "g.140637931C>T" "" "" "" "EHMT1(NM_024757.5):c.932C>T (p.T311M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137743479C>T" "" "likely benign" "" "0000537623" "0" "30" "9" "140638534" "140638534" "subst" "0.0136683" "01804" "EHMT1_000095" "g.140638534G>A" "" "" "" "EHMT1(NM_024757.5):c.1162G>A (p.(Ala388Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137744082G>A" "" "likely benign" "" "0000537624" "0" "10" "9" "140669656" "140669656" "subst" "0.000831005" "01943" "EHMT1_000096" "g.140669656C>T" "" "" "" "EHMT1(NM_024757.4):c.1743C>T (p.R581=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137775204C>T" "" "benign" "" "0000537625" "0" "50" "9" "140669704" "140669704" "subst" "0" "01804" "EHMT1_000097" "g.140669704G>A" "" "" "" "EHMT1(NM_024757.4):c.1791G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137775252G>A" "" "VUS" "" "0000537626" "0" "30" "9" "140672442" "140672442" "subst" "2.84375E-5" "01943" "EHMT1_000098" "g.140672442C>T" "" "" "" "EHMT1(NM_024757.4):c.2127C>T (p.P709=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137777990C>T" "" "likely benign" "" "0000537627" "0" "70" "9" "140693325" "140693325" "subst" "0" "01804" "EHMT1_000099" "g.140693325C>T" "" "" "" "EHMT1(NM_024757.4):c.2566C>T (p.(Gln856Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137798873C>T" "" "likely pathogenic" "" "0000537628" "0" "70" "9" "140695399" "140695399" "subst" "0" "02329" "EHMT1_000100" "g.140695399T>G" "" "" "" "EHMT1(NM_024757.5):c.2675T>G (p.L892R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137800947T>G" "" "likely pathogenic" "" "0000537629" "0" "50" "9" "140705950" "140705950" "subst" "0" "02325" "EHMT1_000101" "g.140705950G>A" "" "" "" "EHMT1(NM_024757.5):c.2750G>A (p.G917D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137811498G>A" "" "VUS" "" "0000537630" "0" "50" "9" "140706042" "140706042" "subst" "0" "02327" "EHMT1_000102" "g.140706042C>T" "" "" "" "EHMT1(NM_024757.5):c.2842C>T (p.R948W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137811590C>T" "" "VUS" "" "0000537631" "0" "50" "9" "140707535" "140707535" "subst" "5.69245E-5" "01943" "EHMT1_000103" "g.140707535A>G" "" "" "" "EHMT1(NM_024757.4):c.2945A>G (p.N982S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137813083A>G" "" "VUS" "" "0000537632" "0" "10" "9" "140707560" "140707560" "subst" "0.000761605" "02327" "EHMT1_000104" "g.140707560G>T" "" "" "" "EHMT1(NM_024757.4):c.2970G>T (p.Q990H, p.(Gln990His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137813108G>T" "" "benign" "" "0000537633" "0" "30" "9" "140708907" "140708907" "subst" "0" "01804" "EHMT1_000105" "g.140708907T>G" "" "" "" "EHMT1(NM_024757.4):c.3205T>G (p.(Ser1069Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137814455T>G" "" "likely benign" "" "0000537634" "0" "50" "9" "140708914" "140708914" "subst" "4.10927E-6" "01943" "EHMT1_000106" "g.140708914G>C" "" "" "" "EHMT1(NM_024757.4):c.3212G>C (p.S1071T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137814462G>C" "" "VUS" "" "0000537635" "0" "90" "9" "140710450" "140710450" "subst" "0" "02327" "EHMT1_000107" "g.140710450G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137815998G>A" "" "pathogenic" "" "0000537637" "0" "70" "9" "140711975" "140711975" "subst" "0" "01804" "EHMT1_000109" "g.140711975C>A" "" "" "" "EHMT1(NM_024757.4):c.3459C>A (p.(Cys1153Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137817523C>A" "" "likely pathogenic" "" "0000537638" "0" "30" "9" "140712539" "140712539" "subst" "5.27872E-5" "02326" "EHMT1_000110" "g.140712539A>G" "" "" "" "EHMT1(NM_024757.5):c.3489A>G (p.S1163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137818087A>G" "" "likely benign" "" "0000537639" "0" "30" "9" "140728790" "140728791" "dup" "0" "02325" "EHMT1_000111" "g.140728790_140728791dup" "" "" "" "EHMT1(NM_024757.5):c.3541-11_3541-10dupTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137834338_137834339dup" "" "likely benign" "" "0000537640" "0" "90" "9" "140728849" "140728849" "subst" "0" "02327" "EHMT1_000112" "g.140728849C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137834397C>T" "" "pathogenic" "" "0000612041" "0" "90" "9" "140676741" "140676741" "subst" "0" "01943" "EHMT1_000114" "g.140676741A>G" "" "" "" "EHMT1(NM_024757.4):c.2276-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137782289A>G" "" "pathogenic" "" "0000622239" "0" "50" "9" "140712522" "140712522" "subst" "0" "02325" "EHMT1_000116" "g.140712522G>A" "" "" "" "EHMT1(NM_024757.5):c.3472G>A (p.E1158K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137818070G>A" "" "VUS" "" "0000647132" "0" "50" "9" "140611624" "140611624" "subst" "0" "01164" "EHMT1_000117" "g.140611624T>C" "" "" "" "" "" "Germline" "" "rs764569458" "0" "" "" "g.137717172T>C" "" "VUS" "ACMG" "0000647281" "0" "90" "9" "140710411" "140710411" "dup" "0" "01807" "EHMT1_000119" "g.140710411dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.137815959dup" "" "pathogenic" "" "0000647288" "0" "70" "9" "140622799" "140622799" "subst" "0" "01807" "EHMT1_000118" "g.140622799A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.137728347A>G" "" "likely pathogenic" "" "0000656316" "0" "50" "9" "140710495" "140710495" "subst" "5.35129E-5" "02325" "EHMT1_000120" "g.140710495G>A" "" "" "" "EHMT1(NM_024757.5):c.3355G>A (p.V1119I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137816043G>A" "" "VUS" "" "0000660665" "0" "50" "9" "140676849" "140676849" "subst" "0" "01164" "EHMT1_000122" "g.140676849G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.137782397G>A" "" "VUS" "" "0000678629" "0" "30" "9" "140611382" "140611382" "subst" "0.000235953" "01943" "EHMT1_000123" "g.140611382G>T" "" "" "" "EHMT1(NM_024757.4):c.390G>T (p.P130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678630" "0" "30" "9" "140707606" "140707606" "subst" "0.000386771" "01943" "EHMT1_000124" "g.140707606G>A" "" "" "" "EHMT1(NM_024757.4):c.3016G>A (p.V1006M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678632" "0" "50" "9" "140729303" "140729303" "subst" "0" "01943" "EHMT1_000126" "g.140729303C>G" "" "" "" "EHMT1(NM_024757.4):c.3795C>G (p.H1265Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000683310" "0" "70" "9" "140707928" "140707929" "del" "0" "00006" "EHMT1_000049" "g.140707928_140707929del" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.137813476_137813477del" "" "likely pathogenic (dominant)" "" "0000683550" "0" "70" "9" "140707558" "140707558" "subst" "0" "00006" "EHMT1_000127" "g.140707558C>T" "" "{PMID:Anazi 2017:28940097}" "" "" "ACMG PVS1,PM2" "De novo" "" "" "0" "" "" "g.137813106C>T" "" "likely pathogenic (dominant)" "ACMG" "0000690491" "0" "90" "9" "140695369" "140695370" "del" "0" "02325" "EHMT1_000128" "g.140695369_140695370del" "" "" "" "EHMT1(NM_024757.5):c.2645_2646delAG (p.E882Vfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000690492" "0" "30" "9" "140707560" "140707560" "subst" "0.000761605" "01943" "EHMT1_000104" "g.140707560G>T" "" "" "" "EHMT1(NM_024757.4):c.2970G>T (p.Q990H, p.(Gln990His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000694211" "0" "70" "9" "140685343" "140685343" "subst" "0" "00006" "EHMT1_000132" "g.140685343C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "" "De novo" "" "" "0" "" "" "g.137790891C>T" "" "likely pathogenic" "ACMG" "0000694212" "11" "70" "9" "140706030" "140706030" "subst" "0" "00006" "EHMT1_000133" "g.140706030C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.137811578C>T" "" "likely pathogenic" "ACMG" "0000694213" "0" "90" "9" "140707467" "140707470" "del" "0" "00006" "EHMT1_000041" "g.140707467_140707470del" "" "{PMID:Faundes 2018:29276005}" "" "2870_2873delTCTT" "" "De novo" "" "" "0" "" "" "g.137813015_137813018del" "" "pathogenic" "ACMG" "0000694214" "0" "70" "9" "140710450" "140710450" "subst" "0" "00006" "EHMT1_000107" "g.140710450G>A" "" "{PMID:Faundes 2018:29276005}" "" "" "" "De novo" "" "" "0" "" "" "g.137815998G>A" "" "likely pathogenic" "ACMG" "0000694215" "0" "90" "9" "140712570" "140712570" "del" "0" "00006" "EHMT1_000136" "g.140712570del" "" "{PMID:Faundes 2018:29276005}" "" "3519delC" "" "De novo" "" "" "0" "" "" "g.137818118del" "" "pathogenic" "ACMG" "0000694216" "0" "90" "9" "140712571" "140712571" "dup" "0" "00006" "EHMT1_000137" "g.140712571dup" "" "{PMID:Faundes 2018:29276005}" "" "3520_3521insT" "" "De novo" "" "" "0" "" "" "g.137818119dup" "" "pathogenic" "ACMG" "0000694217" "0" "90" "9" "140712571" "140712571" "dup" "0" "00006" "EHMT1_000137" "g.140712571dup" "" "{PMID:Faundes 2018:29276005}" "" "3520_3521insT" "" "De novo" "" "" "0" "" "" "g.137818119dup" "" "pathogenic" "ACMG" "0000694272" "11" "50" "9" "140611216" "140611216" "subst" "4.06689E-6" "00006" "EHMT1_000129" "g.140611216A>T" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.137716764A>T" "" "VUS" "ACMG" "0000694273" "11" "30" "9" "140611397" "140611397" "subst" "2.84782E-5" "00006" "EHMT1_000130" "g.140611397G>T" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.137716945G>T" "" "likely benign" "ACMG" "0000694274" "0" "50" "9" "140622908" "140622908" "subst" "0" "00006" "EHMT1_000131" "g.140622908A>C" "" "{PMID:Faundes 2018:29276005}" "" "" "" "De novo" "" "" "0" "" "" "g.137728456A>C" "" "VUS" "ACMG" "0000694275" "21" "30" "9" "140707876" "140707876" "subst" "0" "00006" "EHMT1_000134" "g.140707876G>C" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.137813424G>C" "" "likely benign" "ACMG" "0000694276" "11" "50" "9" "140711914" "140711914" "subst" "1.21926E-5" "00006" "EHMT1_000135" "g.140711914C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.137817462C>T" "" "VUS" "ACMG" "0000698355" "0" "90" "9" "140710498" "140710499" "delins" "0" "00006" "EHMT1_000138" "g.140710498_140710499delinsACCTGAG" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.137816046_137816047delinsACCTGAG" "" "pathogenic" "ACMG" "0000698377" "0" "50" "9" "140637904" "140637904" "subst" "0.000203085" "00006" "EHMT1_000093" "g.140637904A>G" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.137743452A>G" "" "VUS" "ACMG" "0000704180" "0" "70" "9" "140685343" "140685343" "subst" "0" "01807" "EHMT1_000132" "g.140685343C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000709028" "0" "90" "9" "140695428" "140695428" "subst" "0" "01164" "EHMT1_000058" "g.140695428C>T" "" "" "" "" "ACMG: PVS1, PS2, PM2: class 5" "De novo" "?" "" "" "" "" "" "{CV:000280682}" "pathogenic (dominant)" "ACMG" "0000710710" "0" "90" "9" "140712571" "140712577" "del" "0" "01807" "EHMT1_000139" "g.140712571_140712577del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000714152" "0" "90" "9" "140622831" "140622831" "subst" "0" "01164" "EHMT1_000140" "g.140622831C>T" "" "" "" "" "ACMG: PVS1, PS2; PM2: class 5" "Germline/De novo (untested)" "?" "" "" "" "" "" "{CV:000252987}" "pathogenic (dominant)" "ACMG" "0000722435" "0" "30" "9" "140611573" "140611573" "subst" "0.000507627" "01943" "EHMT1_000141" "g.140611573C>T" "" "" "" "EHMT1(NM_024757.4):c.581C>T (p.P194L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722436" "0" "30" "9" "140611624" "140611624" "subst" "0" "01943" "EHMT1_000117" "g.140611624T>C" "" "" "" "EHMT1(NM_024757.4):c.632T>C (p.V211A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722437" "0" "50" "9" "140674167" "140674167" "subst" "0" "02327" "EHMT1_000142" "g.140674167T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722438" "0" "70" "9" "140676800" "140676800" "subst" "0" "02329" "EHMT1_000057" "g.140676800A>C" "" "" "" "EHMT1(NM_024757.5):c.2333A>C (p.H778P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000722439" "0" "30" "9" "140705999" "140705999" "subst" "0.000181416" "01943" "EHMT1_000143" "g.140705999C>T" "" "" "" "EHMT1(NM_024757.4):c.2799C>T (p.H933=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722440" "0" "90" "9" "140706042" "140706042" "subst" "0" "02329" "EHMT1_000102" "g.140706042C>T" "" "" "" "EHMT1(NM_024757.5):c.2842C>T (p.R948W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722441" "0" "70" "9" "140707463" "140707468" "del" "0" "02329" "EHMT1_000060" "g.140707463_140707468del" "" "" "" "EHMT1(NM_024757.5):c.2873_2878delTTCTTT (p.F958_L959del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000722442" "0" "50" "9" "140710487" "140710487" "subst" "1.64138E-5" "02329" "EHMT1_000115" "g.140710487G>A" "" "" "" "EHMT1(NM_024757.5):c.3347G>A (p.R1116Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722443" "0" "50" "9" "140711891" "140711891" "subst" "6.09786E-5" "01943" "EHMT1_000065" "g.140711891G>C" "" "" "" "EHMT1(NM_024757.4):c.3375G>C (p.R1125S), EHMT1(NM_024757.5):c.3375G>C (p.R1125S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722444" "0" "90" "9" "140712552" "140712552" "subst" "0" "02329" "EHMT1_000002" "g.140712552C>T" "" "" "" "EHMT1(NM_024757.5):c.3502C>T (p.R1168*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000735312" "0" "70" "9" "140707837" "140707837" "subst" "0" "01164" "EHMT1_000144" "g.140707837G>T" "" "" "" "" "ACMG: PVS1, PM2_SUP: class 4" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000785370" "0" "50" "9" "140622862" "140622862" "subst" "0" "03132" "EHMT1_000145" "g.140622862A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000785371" "0" "70" "9" "140695432" "140695432" "subst" "0" "03132" "EHMT1_000146" "g.140695432A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000785372" "0" "90" "9" "140710457" "140710457" "dup" "0" "03132" "EHMT1_000150" "g.140710457dup" "" "" "" "3317dupA" "" "De novo" "" "" "0" "" "" "g.137816005dup" "" "pathogenic (dominant)" "" "0000785373" "0" "90" "9" "140712592" "140712592" "subst" "0" "03132" "EHMT1_000151" "g.140712592T>C" "" "" "" "3540+2C>T" "" "De novo" "" "" "0" "" "" "g.137818140T>C" "" "pathogenic (dominant)" "" "0000785374" "0" "70" "9" "140706028" "140706028" "subst" "0" "03132" "EHMT1_000147" "g.140706028T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000785375" "0" "90" "9" "140707965" "140707966" "del" "0" "03132" "EHMT1_000149" "g.140707965_140707966del" "" "" "" "3162_3163delAA" "" "De novo" "" "" "0" "" "" "g.137813513_137813514del" "" "pathogenic (dominant)" "" "0000785376" "0" "90" "9" "140637860" "140637860" "del" "0" "03132" "EHMT1_000148" "g.140637860del" "" "" "" "860delG" "" "De novo" "" "" "0" "" "" "g.137743408del" "" "pathogenic (dominant)" "" "0000804027" "0" "30" "9" "140657284" "140657284" "subst" "6.50074E-5" "01943" "EHMT1_000152" "g.140657284T>G" "" "" "" "EHMT1(NM_001354611.1):c.1659T>G (p.F553L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804028" "0" "30" "9" "140671126" "140671126" "subst" "0" "01943" "EHMT1_000153" "g.140671126C>A" "" "" "" "EHMT1(NM_024757.4):c.1848C>A (p.D616E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804029" "0" "30" "9" "140672443" "140672443" "subst" "1.62493E-5" "01943" "EHMT1_000154" "g.140672443G>A" "" "" "" "EHMT1(NM_024757.4):c.2128G>A (p.G710S), EHMT1(NM_024757.5):c.2128G>A (p.(Gly710Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804030" "0" "30" "9" "140676747" "140676747" "subst" "0.000179434" "01943" "EHMT1_000155" "g.140676747C>T" "" "" "" "EHMT1(NM_024757.4):c.2280C>T (p.D760=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804031" "0" "30" "9" "140685410" "140685410" "subst" "0" "01943" "EHMT1_000156" "g.140685410G>C" "" "" "" "EHMT1(NM_024757.4):c.2493G>C (p.L831=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852203" "0" "30" "9" "140611424" "140611424" "subst" "0.00210955" "01943" "EHMT1_000157" "g.140611424C>T" "" "" "" "EHMT1(NM_024757.4):c.432C>T (p.A144=), EHMT1(NM_024757.5):c.432C>T (p.(Ala144=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852204" "0" "30" "9" "140611568" "140611568" "subst" "0.000253632" "01943" "EHMT1_000158" "g.140611568G>A" "" "" "" "EHMT1(NM_024757.4):c.576G>A (p.P192=), EHMT1(NM_024757.5):c.576G>A (p.P192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852205" "0" "10" "9" "140637821" "140637821" "subst" "0" "02325" "EHMT1_000014" "g.140637821A>T" "" "" "" "EHMT1(NM_001145527.1):c.824-2A>T (p.?), EHMT1(NM_024757.5):c.824-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852206" "0" "10" "9" "140637822" "140637822" "subst" "0" "02325" "EHMT1_000083" "g.140637822G>T" "" "" "" "EHMT1(NM_001145527.1):c.824-1G>T (p.?), EHMT1(NM_024757.5):c.824-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852207" "0" "10" "9" "140637823" "140637823" "subst" "0" "02325" "EHMT1_000159" "g.140637823C>T" "" "" "" "EHMT1(NM_024757.5):c.824C>T (p.A275V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852208" "0" "30" "9" "140637904" "140637904" "subst" "0.000203085" "01943" "EHMT1_000093" "g.140637904A>G" "" "" "" "EHMT1(NM_001145527.1):c.905A>G (p.(Lys302Arg)), EHMT1(NM_024757.4):c.905A>G (p.K302R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852209" "0" "30" "9" "140657221" "140657221" "subst" "0" "01943" "EHMT1_000160" "g.140657221C>T" "" "" "" "EHMT1(NM_024757.4):c.1596C>T (p.I532=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852210" "0" "50" "9" "140671113" "140671113" "subst" "1.21818E-5" "02325" "EHMT1_000161" "g.140671113G>A" "" "" "" "EHMT1(NM_024757.5):c.1835G>A (p.R612H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861586" "0" "50" "9" "140728902" "140728902" "subst" "4.07156E-6" "02325" "EHMT1_000162" "g.140728902G>C" "" "" "" "EHMT1(NM_024757.5):c.3642G>C (p.M1214I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000870620" "0" "90" "9" "140611286" "140611289" "del" "0" "01164" "EHMT1_000163" "g.140611286_140611289del" "" "" "" "" "ACMG: PVS1, PS2_MOD, PM2_SUP" "De novo" "?" "" "0" "" "" "g.137716834_137716837del" "" "pathogenic (dominant)" "ACMG" "0000872370" "0" "90" "9" "140622982" "140622982" "subst" "0" "00006" "EHMT1_000164" "g.140622982G>T" "" "{PMID:Gong 2021:33834462}" "" "" "ACMG PVS1, PS2, PM2" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000872371" "0" "90" "9" "140611431" "140611431" "subst" "0" "00006" "EHMT1_000165" "g.140611431C>G" "" "{PMID:Gong 2021:33834462}" "" "" "ACMG PS2, PM1, PM2, PP3" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000872372" "0" "90" "9" "140513444" "140730579" "del" "0" "00006" "EHMT1_000166" "g.(?_140513444)_(140730579_?)del" "" "{PMID:Gong 2021:33834462}" "" "del EHMT1 gene" "" "De novo" "" "" "0" "" "" "g.(?_137618992)_(137836127_?)del" "" "pathogenic (dominant)" "" "0000888762" "0" "90" "9" "140605431" "140605432" "ins" "0" "02327" "EHMT1_000167" "g.140605431_140605432insC" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888763" "0" "50" "9" "140611429" "140611429" "subst" "5.29717E-5" "02325" "EHMT1_000168" "g.140611429C>T" "" "" "" "EHMT1(NM_024757.5):c.437C>T (p.S146L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888764" "0" "50" "9" "140638426" "140638426" "subst" "4.47347E-5" "02325" "EHMT1_000169" "g.140638426G>A" "" "" "" "EHMT1(NM_024757.5):c.1054G>A (p.D352N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888765" "0" "70" "9" "140705932" "140705932" "subst" "0" "02325" "EHMT1_000170" "g.140705932A>G" "" "" "" "EHMT1(NM_024757.5):c.2732A>G (p.H911R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000888766" "0" "50" "9" "140708943" "140708943" "subst" "0" "02329" "EHMT1_000171" "g.140708943C>T" "" "" "" "EHMT1(NM_024757.5):c.3241C>T (p.R1081C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925023" "0" "50" "9" "140611162" "140611162" "subst" "0" "02325" "EHMT1_000074" "g.140611162C>G" "" "" "" "EHMT1(NM_024757.5):c.170C>G (p.S57C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925024" "0" "70" "9" "140706028" "140706028" "subst" "0" "02325" "EHMT1_000147" "g.140706028T>C" "" "" "" "EHMT1(NM_024757.5):c.2828T>C (p.L943P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000927690" "0" "90" "9" "140711975" "140711975" "subst" "0" "03779" "EHMT1_000172" "g.140711975C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000929573" "0" "90" "9" "140646804" "140646804" "subst" "0" "02325" "EHMT1_000173" "g.140646804G>T" "" "" "" "EHMT1(NM_024757.5):c.1192G>T (p.E398*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929574" "0" "30" "9" "140652476" "140652476" "subst" "0.0558042" "02327" "EHMT1_000174" "g.140652476G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929575" "0" "50" "9" "140706007" "140706007" "subst" "0" "02329" "EHMT1_000175" "g.140706007A>T" "" "" "" "EHMT1(NM_024757.5):c.2807A>T (p.N936I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929576" "0" "50" "9" "140707520" "140707520" "subst" "0" "02325" "EHMT1_000176" "g.140707520A>T" "" "" "" "EHMT1(NM_024757.5):c.2930A>T (p.Q977L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929577" "0" "70" "9" "140728929" "140728929" "del" "0" "02329" "EHMT1_000177" "g.140728929del" "" "" "" "EHMT1(NM_024757.5):c.3669delG (p.I1224Sfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000931482" "0" "50" "9" "140706042" "140706042" "subst" "0" "01164" "EHMT1_000102" "g.140706042C>T" "" "PMID: 26633542, 37583270" "LanerMGZ" "" "ACMG: PS4_MOD, PS2, PM2_SUP; observed in at least individuals with EHMT1-associated phenotype in de novo constellation (in at least 1 in confirmed de novo, MGZ internal data)." "De novo" "-" "" "0" "" "" "g.137811590C>T" "VCV001450360.4" "VUS (!)" "ACMG" "0000959815" "0" "70" "9" "140706042" "140706042" "subst" "0" "01164" "EHMT1_000102" "g.140706042C>T" "" "PMID: 26633542, 37583270" "" "" "ACMG: PS2, PS4_MOD, PM2_SUP; found in at least 3 unrelated individuals with EHMT1-associated phenotype, in de novo constellation, in at least 1 in confirmed de novo" "De novo" "-" "" "" "" "" "g.137811590C>T" "" "likely pathogenic (dominant)" "ACMG" "0000978595" "0" "30" "9" "140564649" "140564649" "subst" "0" "01804" "EHMT1_000180" "g.140564649T>G" "" "" "" "EHMT1(NM_024757.5):c.22-40770T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978596" "0" "30" "9" "140570960" "140570961" "ins" "0" "01804" "EHMT1_000181" "g.140570960_140570961insA" "" "" "" "EHMT1(NM_024757.5):c.22-34459_22-34458insA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978597" "0" "30" "9" "140610842" "140610844" "del" "0" "01804" "EHMT1_000182" "g.140610842_140610844del" "" "" "" "EHMT1(NM_024757.5):c.86-236_86-234del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978598" "0" "30" "9" "140610900" "140610902" "del" "0" "01804" "EHMT1_000183" "g.140610900_140610902del" "" "" "" "EHMT1(NM_024757.5):c.86-178_86-176del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978599" "0" "30" "9" "140610925" "140610925" "subst" "0" "01804" "EHMT1_000184" "g.140610925T>G" "" "" "" "EHMT1(NM_024757.5):c.86-153T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978600" "0" "30" "9" "140610946" "140610946" "dup" "0" "01804" "EHMT1_000185" "g.140610946dup" "" "" "" "EHMT1(NM_024757.5):c.86-132dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978601" "0" "30" "9" "140611380" "140611380" "subst" "0" "01804" "EHMT1_000186" "g.140611380C>G" "" "" "" "EHMT1(NM_024757.4):c.388C>G (p.(Pro130Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978602" "0" "30" "9" "140615743" "140615743" "subst" "0" "01804" "EHMT1_000187" "g.140615743A>G" "" "" "" "EHMT1(NM_024757.5):c.642+4109A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978603" "0" "30" "9" "140622928" "140622928" "subst" "3.65458E-5" "01804" "EHMT1_000188" "g.140622928A>C" "" "" "" "EHMT1(NM_024757.5):c.770A>C (p.(His257Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978604" "0" "30" "9" "140648752" "140648752" "subst" "0.00678016" "01804" "EHMT1_000189" "g.140648752C>T" "" "" "" "EHMT1(NM_024757.5):c.1369+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978605" "0" "30" "9" "140671147" "140671147" "subst" "0.0127177" "01804" "EHMT1_000034" "g.140671147C>T" "" "" "" "EHMT1(NM_024757.5):c.1869C>T (p.(Asn623=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978606" "0" "30" "9" "140672443" "140672443" "subst" "1.62493E-5" "01804" "EHMT1_000154" "g.140672443G>A" "" "" "" "EHMT1(NM_024757.4):c.2128G>A (p.G710S), EHMT1(NM_024757.5):c.2128G>A (p.(Gly710Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978607" "0" "30" "9" "140685661" "140685661" "subst" "0" "01804" "EHMT1_000190" "g.140685661T>G" "" "" "" "EHMT1(NM_024757.5):c.2505+239T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978608" "0" "30" "9" "140693531" "140693531" "subst" "0" "01804" "EHMT1_000191" "g.140693531A>G" "" "" "" "EHMT1(NM_024757.5):c.2607+165A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978609" "0" "50" "9" "140693579" "140693580" "ins" "0" "01804" "EHMT1_000192" "g.140693579_140693580insCG" "" "" "" "EHMT1(NM_024757.5):c.2607+213_2607+214insCG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978610" "0" "30" "9" "140707590" "140707590" "subst" "0.0248796" "01804" "EHMT1_000193" "g.140707590C>T" "" "" "" "EHMT1(NM_024757.5):c.3000C>T (p.(Pro1000=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978611" "0" "30" "9" "140707889" "140707889" "subst" "0.012556" "01804" "EHMT1_000048" "g.140707889G>A" "" "" "" "EHMT1(NM_024757.5):c.3087G>A (p.(Val1029=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978612" "0" "30" "9" "140711883" "140711883" "subst" "4.06646E-5" "01804" "EHMT1_000194" "g.140711883T>A" "" "" "" "EHMT1(NM_024757.5):c.3375-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978613" "0" "50" "9" "140711963" "140711963" "subst" "0" "02327" "EHMT1_000195" "g.140711963C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000986002" "0" "70" "9" "140669602" "140669620" "dup" "0" "03544" "EHMT1_000196" "g.140669602_140669620dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.137775150_137775168dup" "{CV:3362903}" "likely pathogenic" "ACMG" "0000997739" "0" "30" "9" "140605432" "140605432" "subst" "1.38288E-5" "01804" "EHMT1_000197" "g.140605432G>C" "" "" "" "EHMT1(NM_024757.4):c.35G>C (p.(Arg12Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997740" "0" "30" "9" "140605437" "140605437" "dup" "0" "01804" "EHMT1_000198" "g.140605437dup" "" "" "" "EHMT1(NM_024757.4):c.40dupG (p.(Glu14fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997741" "0" "30" "9" "140611192" "140611192" "subst" "1.22233E-5" "01804" "EHMT1_000199" "g.140611192C>G" "" "" "" "EHMT1(NM_024757.4):c.200C>G (p.(Ala67Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997742" "0" "30" "9" "140611329" "140611329" "subst" "2.03224E-5" "01804" "EHMT1_000200" "g.140611329G>A" "" "" "" "EHMT1(NM_024757.4):c.337G>A (p.(Asp113Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997743" "0" "50" "9" "140611489" "140611489" "subst" "0" "01804" "EHMT1_000201" "g.140611489G>C" "" "" "" "EHMT1(NM_024757.4):c.497G>C (p.(Ser166Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997744" "0" "50" "9" "140611521" "140611521" "subst" "3.73506E-5" "01804" "EHMT1_000202" "g.140611521G>C" "" "" "" "EHMT1(NM_024757.4):c.529G>C (p.(Ala177Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997745" "0" "50" "9" "140657127" "140657127" "subst" "0" "01804" "EHMT1_000203" "g.140657127G>C" "" "" "" "EHMT1(NM_024757.4):c.1502G>C (p.(Gly501Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997746" "0" "50" "9" "140657165" "140657165" "subst" "0" "01804" "EHMT1_000204" "g.140657165C>A" "" "" "" "EHMT1(NM_024757.4):c.1540C>A (p.(Leu514Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997747" "0" "50" "9" "140669622" "140669622" "subst" "0" "01804" "EHMT1_000205" "g.140669622C>A" "" "" "" "EHMT1(NM_024757.4):c.1709C>A (p.(Pro570Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997748" "0" "30" "9" "140707845" "140707845" "subst" "2.07904E-5" "01804" "EHMT1_000206" "g.140707845G>A" "" "" "" "EHMT1(NM_024757.4):c.3043G>A (p.(Ala1015Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997749" "0" "30" "9" "140707864" "140707864" "subst" "2.04842E-5" "01804" "EHMT1_000207" "g.140707864T>A" "" "" "" "EHMT1(NM_024757.4):c.3062T>A (p.(Ile1021Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997750" "0" "30" "9" "140707894" "140707894" "subst" "0" "01804" "EHMT1_000208" "g.140707894G>A" "" "" "" "EHMT1(NM_024757.4):c.3092G>A (p.(Ser1031Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997751" "0" "70" "9" "140710501" "140710501" "subst" "0" "01804" "EHMT1_000209" "g.140710501C>T" "" "" "" "EHMT1(NM_024757.4):c.3361C>T (p.(Gln1121*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000997752" "0" "50" "9" "140711899" "140711899" "subst" "0" "01804" "EHMT1_000210" "g.140711899T>C" "" "" "" "EHMT1(NM_024757.4):c.3383T>C (p.(Leu1128Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997753" "0" "50" "9" "140712582" "140712582" "subst" "0" "01804" "EHMT1_000211" "g.140712582G>A" "" "" "" "EHMT1(NM_024757.4):c.3532G>A (p.(Asp1178Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997754" "0" "50" "9" "140728858" "140728858" "subst" "0" "01804" "EHMT1_000212" "g.140728858A>T" "" "" "" "EHMT1(NM_024757.4):c.3598A>T (p.(Asn1200Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997755" "0" "50" "9" "140729325" "140729345" "dup" "0" "01804" "EHMT1_000213" "g.140729325_140729345dup" "" "" "" "EHMT1(NM_024757.4):c.3817_3837dupCGTCAGGCCAGCGCGGCCCAG (p.(Arg1273_Gln1279dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997756" "0" "50" "9" "140729391" "140729391" "subst" "0" "01804" "EHMT1_000214" "g.140729391G>A" "" "" "" "EHMT1(NM_024757.4):c.3883G>A (p.(Ala1295Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001011135" "0" "50" "9" "140638544" "140638544" "subst" "4.08985E-6" "00006" "EHMT1_000215" "g.140638544T>C" "1/192 cases ASD" "{PMID:Kimura 2016:27595554}" "" "" "" "Germline" "" "" "0" "" "" "g.137744092T>C" "" "VUS" "" "0001011136" "0" "30" "9" "140707493" "140707493" "subst" "0" "00006" "EHMT1_000217" "g.140707493A>G" "1/192 cases ASD" "{PMID:Kimura 2016:27595554}" "" "" "" "Germline" "" "" "0" "" "" "g.137813041A>G" "" "likely benign" "" "0001011137" "0" "50" "9" "140695389" "140695389" "subst" "8.12262E-6" "00006" "EHMT1_000216" "g.140695389G>A" "2/390 cases SCZ, 1/1783 cases SCZ, 2/2213 controls" "{PMID:Kimura 2016:27595554}" "" "" "" "Germline" "" "" "0" "" "" "g.137800937G>A" "" "VUS" "" "0001014523" "0" "30" "9" "140707552" "140707552" "subst" "8.14253E-5" "02325" "EHMT1_000043" "g.140707552G>A" "" "" "" "EHMT1(NM_024757.5):c.2962G>A (p.A988T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001017685" "0" "90" "9" "140648685" "140648685" "subst" "0" "03544" "EHMT1_000218" "g.140648685G>A" "" "" "" "" "" "Germline" "yes" "rs1949206105" "0" "" "" "g.137754233G>A" "{CV:931976}" "pathogenic" "ACMG" "0001018834" "0" "70" "9" "140710486" "140710486" "subst" "0" "03544" "EHMT1_000219" "g.140710486C>T" "" "" "" "" "" "De novo" "-" "rs749848324" "0" "" "" "g.137816034C>T" "{CV:521743}" "pathogenic" "ACMG" "0001020122" "11" "50" "9" "140646793" "140646793" "subst" "2.44302E-5" "00006" "EHMT1_000220" "g.140646793A>C" "" "{PMID:Bayam 2024:39609633}" "" "" "inherited from unaffected father" "Germline" "" "" "0" "" "" "g.137752341A>C" "" "VUS" "" "0001020132" "11" "50" "9" "140646793" "140646793" "subst" "2.44302E-5" "00006" "EHMT1_000220" "g.140646793A>C" "" "{PMID:Bayam 2024:39609633}" "" "" "inherited from unaffected father" "Germline" "" "" "0" "" "" "g.137752341A>C" "" "VUS" "" "0001025646" "0" "30" "9" "140611568" "140611568" "subst" "0.000253632" "02326" "EHMT1_000158" "g.140611568G>A" "" "" "" "EHMT1(NM_024757.4):c.576G>A (p.P192=), EHMT1(NM_024757.5):c.576G>A (p.P192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025647" "0" "50" "9" "140695389" "140695389" "subst" "0" "02325" "EHMT1_000221" "g.140695389G>C" "" "" "" "EHMT1(NM_024757.5):c.2665G>C (p.V889L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037388" "0" "30" "9" "140522004" "140522004" "subst" "0" "01804" "EHMT1_000222" "g.140522004G>A" "" "" "" "EHMT1(NM_024757.5):c.21+8503G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037389" "0" "30" "9" "140605794" "140605794" "subst" "0" "01804" "EHMT1_000223" "g.140605794G>A" "" "" "" "EHMT1(NM_024757.5):c.85+312G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037390" "0" "30" "9" "140610600" "140610601" "dup" "0" "01804" "EHMT1_000224" "g.140610600_140610601dup" "" "" "" "EHMT1(NM_024757.5):c.86-478_86-477dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037391" "0" "30" "9" "140610774" "140610775" "dup" "0" "01804" "EHMT1_000225" "g.140610774_140610775dup" "" "" "" "EHMT1(NM_024757.5):c.86-304_86-303dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037392" "0" "30" "9" "140610774" "140610775" "ins" "0" "01804" "EHMT1_000226" "g.140610774_140610775insAG" "" "" "" "EHMT1(NM_024757.5):c.86-304_86-303insAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037394" "0" "30" "9" "140610850" "140610850" "subst" "0" "01804" "EHMT1_000228" "g.140610850A>G" "" "" "" "EHMT1(NM_024757.5):c.86-228A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037395" "0" "30" "9" "140610858" "140610859" "dup" "0" "01804" "EHMT1_000229" "g.140610858_140610859dup" "" "" "" "EHMT1(NM_024757.5):c.86-220_86-219dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037396" "0" "30" "9" "140610883" "140610885" "del" "0" "01804" "EHMT1_000230" "g.140610883_140610885del" "" "" "" "EHMT1(NM_024757.5):c.86-195_86-193del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037397" "0" "30" "9" "140610908" "140610908" "subst" "0" "01804" "EHMT1_000231" "g.140610908A>G" "" "" "" "EHMT1(NM_024757.5):c.86-170A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037398" "0" "50" "9" "140611423" "140611423" "subst" "0" "01804" "EHMT1_000232" "g.140611423C>A" "" "" "" "EHMT1(NM_024757.5):c.431C>A (p.(Ala144Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037399" "0" "10" "9" "140611424" "140611424" "subst" "0.00210955" "01804" "EHMT1_000157" "g.140611424C>T" "" "" "" "EHMT1(NM_024757.4):c.432C>T (p.A144=), EHMT1(NM_024757.5):c.432C>T (p.(Ala144=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001037400" "0" "30" "9" "140615681" "140615681" "del" "0" "01804" "EHMT1_000233" "g.140615681del" "" "" "" "EHMT1(NM_024757.5):c.642+4047del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037401" "0" "30" "9" "140639069" "140639069" "subst" "0" "01804" "EHMT1_000234" "g.140639069C>T" "" "" "" "EHMT1(NM_024757.5):c.1170+527C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037402" "0" "30" "9" "140648281" "140648281" "subst" "0" "01804" "EHMT1_000235" "g.140648281G>A" "" "" "" "EHMT1(NM_024757.5):c.1249-342G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037403" "0" "30" "9" "140665334" "140665334" "dup" "0" "01804" "EHMT1_000236" "g.140665334dup" "" "" "" "EHMT1(NM_024757.5):c.1648-4227dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037404" "0" "50" "9" "140707956" "140707956" "subst" "4.06663E-6" "01804" "EHMT1_000237" "g.140707956A>G" "" "" "" "EHMT1(NM_024757.5):c.3154A>G (p.(Ile1052Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037405" "0" "30" "9" "140709171" "140709171" "subst" "0" "01804" "EHMT1_000238" "g.140709171G>A" "" "" "" "EHMT1(NM_024757.5):c.3258+211G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037406" "0" "30" "9" "140713130" "140713130" "subst" "0" "01804" "EHMT1_000239" "g.140713130T>C" "" "" "" "EHMT1(NM_024757.5):c.3540+540T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037407" "0" "50" "9" "140729284" "140729284" "subst" "4.11384E-6" "01804" "EHMT1_000240" "g.140729284G>A" "" "" "" "EHMT1(NM_024757.5):c.3776G>A (p.(Gly1259Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046191" "0" "30" "9" "140611458" "140611458" "subst" "0.00011047" "02326" "EHMT1_000241" "g.140611458C>G" "" "" "" "EHMT1(NM_024757.5):c.466C>G (p.P156A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053474" "0" "50" "9" "140509308" "140509308" "subst" "5.32412E-5" "01804" "ARRDC1_000013" "g.140509308C>G" "" "" "" "ARRDC1(NM_152285.4):c.1093C>G (p.(Pro365Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053475" "0" "30" "9" "140563797" "140563797" "subst" "0" "01804" "EHMT1_000242" "g.140563797A>T" "" "" "" "EHMT1(NM_024757.5):c.22-41622A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053476" "0" "30" "9" "140605433" "140605433" "subst" "4.59973E-6" "01804" "EHMT1_000243" "g.140605433G>C" "" "" "" "EHMT1(NM_024757.5):c.36G>C (p.(Arg12Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053477" "0" "30" "9" "140610829" "140610830" "dup" "0" "01804" "EHMT1_000244" "g.140610829_140610830dup" "" "" "" "EHMT1(NM_024757.5):c.86-249_86-248dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053478" "0" "30" "9" "140611325" "140611325" "subst" "1.2193E-5" "01804" "EHMT1_000245" "g.140611325C>G" "" "" "" "EHMT1(NM_024757.5):c.333C>G (p.(Ala111=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053479" "0" "50" "9" "140611422" "140611422" "subst" "0" "01804" "EHMT1_000246" "g.140611422G>T" "" "" "" "EHMT1(NM_024757.5):c.430G>T (p.(Ala144Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053480" "0" "30" "9" "140637932" "140637932" "subst" "4.46711E-5" "01804" "EHMT1_000247" "g.140637932G>A" "" "" "" "EHMT1(NM_024757.5):c.933G>A (p.(Thr311=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053481" "0" "30" "9" "140695429" "140695429" "subst" "7.31297E-5" "01804" "EHMT1_000248" "g.140695429G>A" "" "" "" "EHMT1(NM_024757.5):c.2705G>A (p.(Arg902Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053482" "0" "30" "9" "140707992" "140707992" "subst" "0.00494202" "01804" "EHMT1_000062" "g.140707992G>T" "" "" "" "EHMT1(NM_024757.4):c.3180+10G>T, EHMT1(NM_024757.5):c.3180+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053483" "0" "50" "9" "140708028" "140708028" "dup" "0" "01804" "EHMT1_000249" "g.140708028dup" "" "" "" "EHMT1(NM_024757.5):c.3180+46dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053484" "0" "30" "9" "140713042" "140713042" "subst" "0" "01804" "EHMT1_000250" "g.140713042T>G" "" "" "" "EHMT1(NM_024757.5):c.3540+452T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053485" "0" "30" "9" "140713044" "140713044" "subst" "0" "01804" "EHMT1_000251" "g.140713044A>G" "" "" "" "EHMT1(NM_024757.5):c.3540+454A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053486" "0" "30" "9" "140728439" "140728439" "del" "0" "01804" "EHMT1_000252" "g.140728439del" "" "" "" "EHMT1(NM_024757.5):c.3541-362del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053487" "0" "50" "9" "140728959" "140728959" "subst" "0" "01804" "EHMT1_000253" "g.140728959G>T" "" "" "" "EHMT1(NM_024757.5):c.3699G>T (p.(Glu1233Asp))" "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 EHMT1 ## Count = 274 "{{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}}" "0000079454" "00006951" "90" "1132" "0" "1134" "0" "c.1132_1134delinsT" "r.(?)" "p.(Ser378*)" "6" "0000081498" "00006951" "90" "3502" "0" "3502" "0" "c.3502C>T" "r.(?)" "p.(Arg1168*)" "25" "0000081499" "00006951" "90" "1413" "0" "1425" "0" "c.1413_1425del" "r.(?)" "p.(Pro473Glnfs*86)" "9" "0000081501" "00006951" "90" "0" "0" "0" "0" "c.-37_*1174{0}" "r.0" "p.0" "_1_27_" "0000081503" "00006951" "90" "0" "0" "0" "0" "c.-37_*1174{0}" "r.0" "p.0" "_1_27_" "0000081504" "00006951" "90" "0" "0" "0" "0" "c.-37_*1174{0}" "r.0" "p.0" "_1_27_" "0000081505" "00006951" "90" "2193" "-1" "2193" "-1" "c.2193-1G>C" "r.spl?" "p.?" "13i" "0000081506" "00006951" "90" "2868" "-1" "2868" "-1" "c.2868-1G>A" "r.spl?" "p.?" "19i" "0000081507" "00006951" "90" "871" "0" "871" "0" "c.871C>T" "r.(?)" "p.(Arg291*)" "5" "0000081508" "00006951" "70" "3218" "0" "3218" "0" "c.3218G>A" "r.(?)" "p.(Cys1073Tyr)" "22" "0000081509" "00006951" "90" "1533" "0" "1536" "0" "c.1533_1536del" "r.(?)" "p.(Asp512Alafs*50)" "10" "0000081510" "00006951" "90" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(Gln604*)" "12" "0000081511" "00006951" "90" "0" "0" "0" "0" "c.-37_*1174{0}" "r.0" "p.0" "_1_27_" "0000081512" "00006951" "90" "0" "0" "0" "0" "c.-37_*1174{0}" "r.0" "p.0" "_1_27_" "0000081513" "00006951" "90" "0" "0" "0" "0" "c.-37_*1174{0}" "r.0" "p.0" "_1_27_" "0000081514" "00006951" "90" "0" "0" "0" "0" "c.-37_*1174{0}" "r.0" "p.0" "_1_27_" "0000081515" "00006951" "90" "1648" "-1" "3540" "1" "c.(1501+1_1648-1)_(3540+1_?)del" "r.?" "p.?" "11_25" "0000081516" "00006951" "90" "0" "0" "0" "0" "c.?" "r.0" "p.0" "_1_9" "0000081517" "00006951" "90" "0" "0" "0" "0" "c.-37_*1174{0}" "r.0" "p.0" "_1_27_" "0000267786" "00006951" "10" "1089" "0" "1089" "0" "c.1089T>C" "r.(?)" "p.(Gly363=)" "" "0000267787" "00006951" "30" "3375" "-11" "3375" "-10" "c.3375-11_3375-10del" "r.(=)" "p.(=)" "" "0000267788" "00006951" "50" "3375" "0" "3375" "0" "c.3375G>C" "r.(?)" "p.(Arg1125Ser)" "" "0000268783" "00006951" "90" "2704" "0" "2704" "0" "c.2704C>T" "r.(?)" "p.(Arg902Ter)" "" "0000268784" "00006951" "70" "3577" "0" "3577" "0" "c.3577G>A" "r.(?)" "p.(Gly1193Arg)" "" "0000271105" "00006951" "90" "2822" "0" "2822" "0" "c.2822C>A" "r.(?)" "p.(Ser941Ter)" "" "0000271106" "00006951" "90" "2929" "0" "2929" "0" "c.2929C>T" "r.(?)" "p.(Gln977Ter)" "" "0000276007" "00006951" "30" "1402" "0" "1402" "0" "c.1402G>A" "r.(?)" "p.(Ala468Thr)" "" "0000276008" "00006951" "90" "244" "0" "244" "0" "c.244del" "r.(?)" "p.(Gln82ArgfsTer7)" "" "0000276009" "00006951" "90" "3046" "0" "3046" "0" "c.3046C>T" "r.(?)" "p.(Arg1016Ter)" "" "0000276010" "00006951" "30" "3081" "0" "3081" "0" "c.3081C>T" "r.(?)" "p.(Asn1027=)" "" "0000276011" "00006951" "30" "3180" "10" "3180" "10" "c.3180+10G>T" "r.(=)" "p.(=)" "" "0000276012" "00006951" "30" "3252" "0" "3252" "0" "c.3252C>T" "r.(?)" "p.(Tyr1084=)" "" "0000276013" "00006951" "30" "3321" "0" "3321" "0" "c.3321C>T" "r.(?)" "p.(His1107=)" "" "0000276014" "00006951" "30" "354" "0" "354" "0" "c.354T>G" "r.(?)" "p.(Ser118=)" "" "0000276015" "00006951" "30" "3735" "0" "3735" "0" "c.3735C>T" "r.(?)" "p.(Arg1245=)" "" "0000276016" "00006951" "10" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Pro176Ser)" "" "0000332966" "00006951" "30" "229" "0" "229" "0" "c.229G>A" "r.(?)" "p.(Ala77Thr)" "" "0000332967" "00006951" "30" "271" "0" "271" "0" "c.271A>T" "r.(?)" "p.(Ile91Leu)" "" "0000332969" "00006951" "30" "824" "-2" "824" "-2" "c.824-2A>T" "r.spl?" "p.?" "" "0000332971" "00006951" "50" "2970" "0" "2970" "0" "c.2970G>T" "r.(?)" "p.(Gln990His)" "" "0000332972" "00006951" "50" "3392" "0" "3392" "0" "c.3392A>G" "r.(?)" "p.(Tyr1131Cys)" "" "0000332973" "00006951" "50" "3884" "0" "3884" "0" "c.3884C>T" "r.(?)" "p.(Ala1295Val)" "" "0000336565" "00006951" "90" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Gln515*)" "" "0000337204" "00006951" "90" "3035" "1" "3035" "1" "c.3035+1G>A" "r.spl?" "p.?" "" "0000337205" "00006951" "90" "3259" "-2" "3259" "-2" "c.3259-2A>G" "r.spl?" "p.?" "" "0000339426" "00006951" "10" "444" "0" "444" "0" "c.444T>C" "r.(?)" "p.(Pro148=)" "" "0000339427" "00006951" "10" "480" "0" "480" "0" "c.480C>T" "r.(?)" "p.(Gly160=)" "" "0000339429" "00006951" "10" "1044" "0" "1044" "0" "c.1044G>A" "r.(?)" "p.(Ser348=)" "" "0000339430" "00006951" "10" "1368" "0" "1368" "0" "c.1368C>T" "r.(?)" "p.(Leu456=)" "" "0000339431" "00006951" "10" "1869" "0" "1869" "0" "c.1869C>T" "r.(?)" "p.(Asn623=)" "" "0000339432" "00006951" "30" "2142" "0" "2142" "0" "c.2142A>G" "r.(?)" "p.(Gly714=)" "" "0000341327" "00006951" "90" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Ala275Thr)" "" "0000341478" "00006951" "30" "149" "0" "149" "0" "c.149C>G" "r.(?)" "p.(Ala50Gly)" "" "0000341479" "00006951" "10" "148" "0" "148" "0" "c.148G>A" "r.(?)" "p.(Ala50Thr)" "" "0000341647" "00006951" "30" "2962" "0" "2962" "0" "c.2962G>A" "r.(?)" "p.(Ala988Thr)" "" "0000341664" "00006951" "90" "3046" "0" "3046" "0" "c.3046C>T" "r.(?)" "p.(Arg1016Ter)" "" "0000342399" "00006951" "90" "736" "0" "736" "0" "c.736C>T" "r.(?)" "p.(Arg246Ter)" "" "0000343560" "00006951" "50" "3284" "0" "3284" "0" "c.3284A>G" "r.(?)" "p.(Asn1095Ser)" "" "0000344231" "00006951" "70" "3184" "0" "3184" "0" "c.3184T>G" "r.(?)" "p.(Cys1062Gly)" "" "0000344461" "00006951" "50" "2405" "0" "2405" "0" "c.2405G>C" "r.(?)" "p.(Cys802Ser)" "" "0000344496" "00006951" "90" "3229" "0" "3229" "0" "c.3229C>T" "r.(?)" "p.(Gln1077Ter)" "" "0000344992" "00006951" "90" "2587" "0" "2587" "0" "c.2587C>T" "r.(?)" "p.(Gln863Ter)" "" "0000345021" "00006951" "90" "2929" "0" "2929" "0" "c.2929C>T" "r.(?)" "p.(Gln977Ter)" "" "0000346028" "00006951" "10" "1089" "0" "1089" "0" "c.1089T>C" "r.(?)" "p.(Gly363=)" "" "0000347298" "00006951" "70" "2264" "0" "2264" "0" "c.2264T>G" "r.(?)" "p.(Leu755Arg)" "" "0000347434" "00006951" "30" "482" "0" "482" "0" "c.482A>G" "r.(?)" "p.(Lys161Arg)" "" "0000348273" "00006951" "50" "623" "0" "623" "0" "c.623C>T" "r.(?)" "p.(Pro208Leu)" "" "0000350234" "00006951" "10" "3087" "0" "3087" "0" "c.3087G>A" "r.(?)" "p.(Val1029=)" "" "0000350916" "00006951" "30" "3375" "-17" "3375" "-17" "c.3375-17T>C" "r.(=)" "p.(=)" "" "0000350917" "00006951" "30" "3375" "-14" "3375" "-13" "c.3375-14_3375-13insA" "r.(=)" "p.(=)" "" "0000537590" "00006951" "30" "-4736" "0" "-4736" "0" "c.-4736C>T" "r.(?)" "p.(=)" "" "0000537592" "00006951" "30" "-4242" "0" "-4242" "0" "c.-4242C>T" "r.(?)" "p.(=)" "" "0000537597" "00006951" "30" "44" "0" "44" "0" "c.44C>T" "r.(?)" "p.(Pro15Leu)" "" "0000537599" "00006951" "30" "149" "0" "149" "0" "c.149C>T" "r.(?)" "p.(Ala50Val)" "" "0000537600" "00006951" "30" "159" "0" "159" "0" "c.159G>T" "r.(?)" "p.(Glu53Asp)" "" "0000537603" "00006951" "30" "480" "0" "480" "0" "c.480C>T" "r.(?)" "p.(Gly160=)" "" "0000537604" "00006951" "30" "578" "0" "578" "0" "c.578C>T" "r.(?)" "p.(Ala193Val)" "" "0000537605" "00006951" "30" "624" "0" "624" "0" "c.624G>A" "r.(?)" "p.(Pro208=)" "" "0000537606" "00006951" "30" "631" "0" "631" "0" "c.631G>A" "r.(?)" "p.(Val211Ile)" "" "0000537607" "00006951" "30" "737" "0" "737" "0" "c.737G>A" "r.(?)" "p.(Arg246Gln)" "" "0000537608" "00006951" "50" "824" "-2" "824" "0" "c.824-2_824del" "r.spl?" "p.?" "" "0000537610" "00006951" "30" "824" "-1" "824" "-1" "c.824-1G>T" "r.spl?" "p.?" "" "0000537611" "00006951" "30" "827" "0" "827" "0" "c.827G>T" "r.(?)" "p.(Cys276Phe)" "" "0000537612" "00006951" "50" "827" "0" "828" "0" "c.827_828del" "r.(?)" "p.(Cys276PhefsTer21)" "" "0000537614" "00006951" "30" "831" "0" "831" "0" "c.831G>T" "r.(?)" "p.(Leu277Phe)" "" "0000537615" "00006951" "30" "831" "0" "833" "0" "c.831_833del" "r.(?)" "p.(Leu277_Pro278delinsPhe)" "" "0000537616" "00006951" "30" "832" "0" "832" "0" "c.832C>T" "r.(?)" "p.(Pro278Ser)" "" "0000537617" "00006951" "30" "833" "0" "833" "0" "c.833C>T" "r.(?)" "p.(Pro278Leu)" "" "0000537618" "00006951" "30" "837" "0" "838" "0" "c.837_838insTTTTTTTT" "r.(?)" "p.(Val280PhefsTer5)" "" "0000537619" "00006951" "30" "838" "0" "838" "0" "c.838G>T" "r.(?)" "p.(Val280Phe)" "" "0000537620" "00006951" "30" "905" "0" "905" "0" "c.905A>G" "r.(?)" "p.(Lys302Arg)" "" "0000537621" "00006951" "30" "932" "0" "932" "0" "c.932C>T" "r.(?)" "p.(Thr311Met)" "" "0000537623" "00006951" "30" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Ala388Thr)" "" "0000537624" "00006951" "10" "1743" "0" "1743" "0" "c.1743C>T" "r.(?)" "p.(Arg581=)" "" "0000537625" "00006951" "50" "1791" "0" "1791" "0" "c.1791G>A" "r.(?)" "p.(Ala597=)" "" "0000537626" "00006951" "30" "2127" "0" "2127" "0" "c.2127C>T" "r.(?)" "p.(Pro709=)" "" "0000537627" "00006951" "70" "2566" "0" "2566" "0" "c.2566C>T" "r.(?)" "p.(Gln856Ter)" "" "0000537628" "00006951" "70" "2675" "0" "2675" "0" "c.2675T>G" "r.(?)" "p.(Leu892Arg)" "" "0000537629" "00006951" "50" "2750" "0" "2750" "0" "c.2750G>A" "r.(?)" "p.(Gly917Asp)" "" "0000537630" "00006951" "50" "2842" "0" "2842" "0" "c.2842C>T" "r.(?)" "p.(Arg948Trp)" "" "0000537631" "00006951" "50" "2945" "0" "2945" "0" "c.2945A>G" "r.(?)" "p.(Asn982Ser)" "" "0000537632" "00006951" "10" "2970" "0" "2970" "0" "c.2970G>T" "r.(?)" "p.(Gln990His)" "" "0000537633" "00006951" "30" "3205" "0" "3205" "0" "c.3205T>G" "r.(?)" "p.(Ser1069Ala)" "" "0000537634" "00006951" "50" "3212" "0" "3212" "0" "c.3212G>C" "r.(?)" "p.(Ser1071Thr)" "" "0000537635" "00006951" "90" "3310" "0" "3310" "0" "c.3310G>A" "r.(?)" "p.(Glu1104Lys)" "" "0000537637" "00006951" "70" "3459" "0" "3459" "0" "c.3459C>A" "r.(?)" "p.(Cys1153Ter)" "" "0000537638" "00006951" "30" "3489" "0" "3489" "0" "c.3489A>G" "r.(?)" "p.(Ser1163=)" "" "0000537639" "00006951" "30" "3541" "-11" "3541" "-10" "c.3541-11_3541-10dup" "r.(=)" "p.(=)" "" "0000537640" "00006951" "90" "3589" "0" "3589" "0" "c.3589C>T" "r.(?)" "p.(Arg1197Trp)" "" "0000612041" "00006951" "90" "2276" "-2" "2276" "-2" "c.2276-2A>G" "r.spl?" "p.?" "" "0000622239" "00006951" "50" "3472" "0" "3472" "0" "c.3472G>A" "r.(?)" "p.(Glu1158Lys)" "" "0000647132" "00006951" "50" "632" "0" "632" "0" "c.632T>C" "r.(?)" "p.(Val211Ala)" "" "0000647281" "00006951" "90" "3271" "0" "3271" "0" "c.3271dup" "r.(?)" "p.(Leu1091ProfsTer86)" "" "0000647288" "00006951" "70" "643" "-2" "643" "-2" "c.643-2A>G" "r.(?)" "p.(?)" "" "0000656316" "00006951" "50" "3355" "0" "3355" "0" "c.3355G>A" "r.(?)" "p.(Val1119Ile)" "" "0000660665" "00006951" "50" "2382" "0" "2382" "0" "c.2382G>A" "r.(?)" "p.(Gln794Gln)" "" "0000678629" "00006951" "30" "390" "0" "390" "0" "c.390G>T" "r.(?)" "p.(Pro130=)" "" "0000678630" "00006951" "30" "3016" "0" "3016" "0" "c.3016G>A" "r.(?)" "p.(Val1006Met)" "" "0000678632" "00006951" "50" "3795" "0" "3795" "0" "c.3795C>G" "r.(?)" "p.(His1265Gln)" "" "0000683310" "00006951" "70" "3126" "0" "3127" "0" "c.3126_3127del" "r.(?)" "p.(Gln1043Glufs*133)" "" "0000683550" "00006951" "70" "2968" "0" "2968" "0" "c.2968C>T" "r.(?)" "p.(Gln990*)" "" "0000690491" "00006951" "90" "2645" "0" "2646" "0" "c.2645_2646del" "r.(?)" "p.(Glu882ValfsTer16)" "" "0000690492" "00006951" "30" "2970" "0" "2970" "0" "c.2970G>T" "r.(?)" "p.(Gln990His)" "" "0000694211" "00006951" "70" "2426" "0" "2426" "0" "c.2426C>T" "r.(?)" "p.(Pro809Leu)" "" "0000694212" "00006951" "70" "2830" "0" "2830" "0" "c.2830C>T" "r.(?)" "p.(His944Tyr)" "" "0000694213" "00006951" "90" "2877" "0" "2880" "0" "c.2877_2880del" "r.(?)" "p.(Ser960Glyfs*7)" "" "0000694214" "00006951" "70" "3310" "0" "3310" "0" "c.3310G>A" "r.(?)" "p.(Glu1104Lys)" "" "0000694215" "00006951" "90" "3520" "0" "3520" "0" "c.3520del" "r.(?)" "p.(Leu1174Serfs*58)" "" "0000694216" "00006951" "90" "3521" "0" "3521" "0" "c.3521dup" "r.(?)" "p.(Phe1175Leufs*2)" "" "0000694217" "00006951" "90" "3521" "0" "3521" "0" "c.3521dup" "r.(?)" "p.(Phe1175Leufs*2)" "" "0000694272" "00006951" "50" "224" "0" "224" "0" "c.224A>T" "r.(?)" "p.(Asp75Val)" "" "0000694273" "00006951" "30" "405" "0" "405" "0" "c.405G>T" "r.(?)" "p.(Gln135His)" "" "0000694274" "00006951" "50" "750" "0" "750" "0" "c.750A>C" "r.(?)" "p.(Leu250Phe)" "" "0000694275" "00006951" "30" "3074" "0" "3074" "0" "c.3074G>C" "r.(?)" "p.(Cys1025Ser)" "" "0000694276" "00006951" "50" "3398" "0" "3398" "0" "c.3398C>T" "r.(?)" "p.(Thr1133Met)" "" "0000698355" "00006951" "90" "3358" "0" "3359" "0" "c.3358_3359delinsACCTGAG" "r.(?)" "p.(Val1120Thrfs* 2)" "23" "0000698377" "00006951" "50" "905" "0" "905" "0" "c.905A>G" "r.(?)" "p.(Lys302Arg)" "5" "0000704180" "00006951" "70" "2426" "0" "2426" "0" "c.2426C>T" "r.(?)" "p.(Pro809Leu)" "" "0000709028" "00006951" "90" "2704" "0" "2704" "0" "c.2704C>T" "r.(?)" "p.(Arg902*)" "" "0000710710" "00006951" "90" "3524" "0" "3530" "0" "c.3524_3530del" "r.(?)" "p.(Phe1175SerfsTer55)" "" "0000714152" "00006951" "90" "673" "0" "673" "0" "c.673C>T" "r.(?)" "p.(Arg225*)" "" "0000722435" "00006951" "30" "581" "0" "581" "0" "c.581C>T" "r.(?)" "p.(Pro194Leu)" "" "0000722436" "00006951" "30" "632" "0" "632" "0" "c.632T>C" "r.(?)" "p.(Val211Ala)" "" "0000722437" "00006951" "50" "2273" "0" "2273" "0" "c.2273T>C" "r.(?)" "p.(Leu758Pro)" "" "0000722438" "00006951" "70" "2333" "0" "2333" "0" "c.2333A>C" "r.(?)" "p.(His778Pro)" "" "0000722439" "00006951" "30" "2799" "0" "2799" "0" "c.2799C>T" "r.(?)" "p.(His933=)" "" "0000722440" "00006951" "90" "2842" "0" "2842" "0" "c.2842C>T" "r.(?)" "p.(Arg948Trp)" "" "0000722441" "00006951" "70" "2873" "0" "2878" "0" "c.2873_2878del" "r.(?)" "p.(Phe958_Leu959del)" "" "0000722442" "00006951" "50" "3347" "0" "3347" "0" "c.3347G>A" "r.(?)" "p.(Arg1116Gln)" "" "0000722443" "00006951" "50" "3375" "0" "3375" "0" "c.3375G>C" "r.(?)" "p.(Arg1125Ser)" "" "0000722444" "00006951" "90" "3502" "0" "3502" "0" "c.3502C>T" "r.(?)" "p.(Arg1168Ter)" "" "0000735312" "00006951" "70" "3036" "-1" "3036" "-1" "c.3036-1G>T" "r.spl?" "p.?" "" "0000785370" "00006951" "50" "704" "0" "704" "0" "c.704A>G" "r.(?)" "p.(Glu235Gly)" "" "0000785371" "00006951" "70" "2708" "0" "2708" "0" "c.2708A>G" "r.(?)" "p.(Asp903Gly)" "" "0000785372" "00006951" "90" "3317" "0" "3317" "0" "c.3317dup" "r.(?)" "p.(Asn1106Lysfs*71)" "" "0000785373" "00006951" "90" "3540" "2" "3540" "2" "c.3540+2T>C" "r.spl?" "p.?" "" "0000785374" "00006951" "70" "2828" "0" "2828" "0" "c.2828T>C" "r.(?)" "p.(Leu943Pro)" "" "0000785375" "00006951" "90" "3163" "0" "3164" "0" "c.3163_3164del" "r.(?)" "p.(Asn1055Tyrfs*121)" "" "0000785376" "00006951" "90" "861" "0" "861" "0" "c.861del" "r.(?)" "p.(Lys288Argfs*20)" "" "0000804027" "00006951" "30" "1647" "12" "1647" "12" "c.1647+12T>G" "r.(=)" "p.(=)" "" "0000804028" "00006951" "30" "1848" "0" "1848" "0" "c.1848C>A" "r.(?)" "p.(Asp616Glu)" "" "0000804029" "00006951" "30" "2128" "0" "2128" "0" "c.2128G>A" "r.(?)" "p.(Gly710Ser)" "" "0000804030" "00006951" "30" "2280" "0" "2280" "0" "c.2280C>T" "r.(?)" "p.(Asp760=)" "" "0000804031" "00006951" "30" "2493" "0" "2493" "0" "c.2493G>C" "r.(?)" "p.(Leu831=)" "" "0000852203" "00006951" "30" "432" "0" "432" "0" "c.432C>T" "r.(?)" "p.(Ala144=)" "" "0000852204" "00006951" "30" "576" "0" "576" "0" "c.576G>A" "r.(?)" "p.(Pro192=)" "" "0000852205" "00006951" "10" "824" "-2" "824" "-2" "c.824-2A>T" "r.spl?" "p.?" "" "0000852206" "00006951" "10" "824" "-1" "824" "-1" "c.824-1G>T" "r.spl?" "p.?" "" "0000852207" "00006951" "10" "824" "0" "824" "0" "c.824C>T" "r.(?)" "p.(Ala275Val)" "" "0000852208" "00006951" "30" "905" "0" "905" "0" "c.905A>G" "r.(?)" "p.(Lys302Arg)" "" "0000852209" "00006951" "30" "1596" "0" "1596" "0" "c.1596C>T" "r.(?)" "p.(Ile532=)" "" "0000852210" "00006951" "50" "1835" "0" "1835" "0" "c.1835G>A" "r.(?)" "p.(Arg612His)" "" "0000861586" "00006951" "50" "3642" "0" "3642" "0" "c.3642G>C" "r.(?)" "p.(Met1214Ile)" "" "0000870620" "00006951" "90" "294" "0" "297" "0" "c.294_297del" "r.(?)" "p.(Arg99Thrfs*28)" "" "0000872370" "00006951" "90" "823" "1" "823" "1" "c.823+1G>T" "r.spl" "p.?" "" "0000872371" "00006951" "90" "439" "0" "439" "0" "c.439C>G" "r.(?)" "p.(Leu147Val)" "" "0000872372" "00006951" "90" "0" "0" "0" "0" "c.-37_*1174{0}" "r.0" "p.0" "_1_27_" "0000888762" "00006951" "90" "34" "0" "35" "0" "c.34_35insC" "r.(?)" "p.(Arg12Thrfs*25)" "" "0000888763" "00006951" "50" "437" "0" "437" "0" "c.437C>T" "r.(?)" "p.(Ser146Leu)" "" "0000888764" "00006951" "50" "1054" "0" "1054" "0" "c.1054G>A" "r.(?)" "p.(Asp352Asn)" "" "0000888765" "00006951" "70" "2732" "0" "2732" "0" "c.2732A>G" "r.(?)" "p.(His911Arg)" "" "0000888766" "00006951" "50" "3241" "0" "3241" "0" "c.3241C>T" "r.(?)" "p.(Arg1081Cys)" "" "0000925023" "00006951" "50" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.(Ser57Cys)" "" "0000925024" "00006951" "70" "2828" "0" "2828" "0" "c.2828T>C" "r.(?)" "p.(Leu943Pro)" "" "0000927690" "00006951" "90" "3459" "0" "3459" "0" "c.3459C>T" "r.(?)" "p.(Cys1153=)" "" "0000929573" "00006951" "90" "1192" "0" "1192" "0" "c.1192G>T" "r.(?)" "p.(Glu398*)" "" "0000929574" "00006951" "30" "1501" "13" "1501" "13" "c.1501+13G>T" "r.(=)" "p.(=)" "" "0000929575" "00006951" "50" "2807" "0" "2807" "0" "c.2807A>T" "r.(?)" "p.(Asn936Ile)" "" "0000929576" "00006951" "50" "2930" "0" "2930" "0" "c.2930A>T" "r.(?)" "p.(Gln977Leu)" "" "0000929577" "00006951" "70" "3669" "0" "3669" "0" "c.3669del" "r.(?)" "p.(Ile1224Serfs*8)" "" "0000931482" "00006951" "50" "2842" "0" "2842" "0" "c.2842C>T" "r.(?)" "p.(Arg948Trp)" "" "0000959815" "00006951" "70" "2842" "0" "2842" "0" "c.2842C>T" "r.(?)" "p.(Arg948Trp)" "" "0000978595" "00006951" "30" "22" "-40770" "22" "-40770" "c.22-40770T>G" "r.(=)" "p.(=)" "" "0000978596" "00006951" "30" "22" "-34459" "22" "-34458" "c.22-34459_22-34458insA" "r.(=)" "p.(=)" "" "0000978597" "00006951" "30" "86" "-236" "86" "-234" "c.86-236_86-234del" "r.(=)" "p.(=)" "" "0000978598" "00006951" "30" "86" "-178" "86" "-176" "c.86-178_86-176del" "r.(=)" "p.(=)" "" "0000978599" "00006951" "30" "86" "-153" "86" "-153" "c.86-153T>G" "r.(=)" "p.(=)" "" "0000978600" "00006951" "30" "86" "-132" "86" "-132" "c.86-132dup" "r.(=)" "p.(=)" "" "0000978601" "00006951" "30" "388" "0" "388" "0" "c.388C>G" "r.(?)" "p.(Pro130Ala)" "" "0000978602" "00006951" "30" "642" "4109" "642" "4109" "c.642+4109A>G" "r.(=)" "p.(=)" "" "0000978603" "00006951" "30" "770" "0" "770" "0" "c.770A>C" "r.(?)" "p.(His257Pro)" "" "0000978604" "00006951" "30" "1369" "9" "1369" "9" "c.1369+9C>T" "r.(=)" "p.(=)" "" "0000978605" "00006951" "30" "1869" "0" "1869" "0" "c.1869C>T" "r.(?)" "p.(Asn623=)" "" "0000978606" "00006951" "30" "2128" "0" "2128" "0" "c.2128G>A" "r.(?)" "p.(Gly710Ser)" "" "0000978607" "00006951" "30" "2505" "239" "2505" "239" "c.2505+239T>G" "r.(=)" "p.(=)" "" "0000978608" "00006951" "30" "2607" "165" "2607" "165" "c.2607+165A>G" "r.(=)" "p.(=)" "" "0000978609" "00006951" "50" "2607" "213" "2607" "214" "c.2607+213_2607+214insCG" "r.(=)" "p.(=)" "" "0000978610" "00006951" "30" "3000" "0" "3000" "0" "c.3000C>T" "r.(?)" "p.(=)" "" "0000978611" "00006951" "30" "3087" "0" "3087" "0" "c.3087G>A" "r.(?)" "p.(Val1029=)" "" "0000978612" "00006951" "30" "3375" "-8" "3375" "-8" "c.3375-8T>A" "r.(=)" "p.(=)" "" "0000978613" "00006951" "50" "3447" "0" "3447" "0" "c.3447C>T" "r.(?)" "p.(=)" "" "0000986002" "00006951" "70" "1689" "0" "1707" "0" "c.1689_1707dup" "r.(?)" "p.(Pro570Alafs*13)" "11" "0000997739" "00006951" "30" "35" "0" "35" "0" "c.35G>C" "r.(?)" "p.(Arg12Thr)" "" "0000997740" "00006951" "30" "40" "0" "40" "0" "c.40dup" "r.(?)" "p.(Glu14Glyfs*23)" "" "0000997741" "00006951" "30" "200" "0" "200" "0" "c.200C>G" "r.(?)" "p.(Ala67Gly)" "" "0000997742" "00006951" "30" "337" "0" "337" "0" "c.337G>A" "r.(?)" "p.(Asp113Asn)" "" "0000997743" "00006951" "50" "497" "0" "497" "0" "c.497G>C" "r.(?)" "p.(Ser166Thr)" "" "0000997744" "00006951" "50" "529" "0" "529" "0" "c.529G>C" "r.(?)" "p.(Ala177Pro)" "" "0000997745" "00006951" "50" "1502" "0" "1502" "0" "c.1502G>C" "r.(?)" "p.(Gly501Ala)" "" "0000997746" "00006951" "50" "1540" "0" "1540" "0" "c.1540C>A" "r.(?)" "p.(Leu514Ile)" "" "0000997747" "00006951" "50" "1709" "0" "1709" "0" "c.1709C>A" "r.(?)" "p.(Pro570Gln)" "" "0000997748" "00006951" "30" "3043" "0" "3043" "0" "c.3043G>A" "r.(?)" "p.(Ala1015Thr)" "" "0000997749" "00006951" "30" "3062" "0" "3062" "0" "c.3062T>A" "r.(?)" "p.(Ile1021Asn)" "" "0000997750" "00006951" "30" "3092" "0" "3092" "0" "c.3092G>A" "r.(?)" "p.(Ser1031Asn)" "" "0000997751" "00006951" "70" "3361" "0" "3361" "0" "c.3361C>T" "r.(?)" "p.(Gln1121*)" "" "0000997752" "00006951" "50" "3383" "0" "3383" "0" "c.3383T>C" "r.(?)" "p.(Leu1128Pro)" "" "0000997753" "00006951" "50" "3532" "0" "3532" "0" "c.3532G>A" "r.(?)" "p.(Asp1178Asn)" "" "0000997754" "00006951" "50" "3598" "0" "3598" "0" "c.3598A>T" "r.(?)" "p.(Asn1200Tyr)" "" "0000997755" "00006951" "50" "3817" "0" "3837" "0" "c.3817_3837dup" "r.(?)" "p.(Arg1273_Gln1279dup)" "" "0000997756" "00006951" "50" "3883" "0" "3883" "0" "c.3883G>A" "r.(?)" "p.(Ala1295Thr)" "" "0001011135" "00006951" "50" "1170" "2" "1170" "2" "c.1170+2T>C" "r.(?)" "p.?" "" "0001011136" "00006951" "30" "2903" "0" "2903" "0" "c.2903A>G" "r.(?)" "p.(Lys968Arg)" "" "0001011137" "00006951" "50" "2666" "0" "2666" "0" "c.2666G>A" "r.(?)" "p.(Val889Met)" "" "0001014523" "00006951" "30" "2962" "0" "2962" "0" "c.2962G>A" "r.(?)" "p.(Ala988Thr)" "" "0001017685" "00006951" "90" "1311" "0" "1311" "0" "c.1311G>A" "r.(?)" "p.(Trp437*)" "8" "0001018834" "00006951" "70" "3346" "0" "3346" "0" "c.3346C>T" "r.(?)" "p.(Arg1116*)" "23" "0001020122" "00006951" "50" "1181" "0" "1181" "0" "c.1181A>C" "r.(?)" "p.(Glu394Ala)" "" "0001020132" "00006951" "50" "1181" "0" "1181" "0" "c.1181A>C" "r.(?)" "p.(Glu394Ala)" "" "0001025646" "00006951" "30" "576" "0" "576" "0" "c.576G>A" "r.(?)" "p.(Pro192=)" "" "0001025647" "00006951" "50" "2665" "0" "2665" "0" "c.2665G>C" "r.(?)" "p.(Val889Leu)" "" "0001037388" "00006951" "30" "21" "8503" "21" "8503" "c.21+8503G>A" "r.(=)" "p.(=)" "" "0001037389" "00006951" "30" "85" "312" "85" "312" "c.85+312G>A" "r.(=)" "p.(=)" "" "0001037390" "00006951" "30" "86" "-478" "86" "-477" "c.86-478_86-477dup" "r.(=)" "p.(=)" "" "0001037391" "00006951" "30" "86" "-304" "86" "-303" "c.86-304_86-303dup" "r.(=)" "p.(=)" "" "0001037392" "00006951" "30" "86" "-304" "86" "-303" "c.86-304_86-303insAG" "r.(=)" "p.(=)" "" "0001037394" "00006951" "30" "86" "-228" "86" "-228" "c.86-228A>G" "r.(=)" "p.(=)" "" "0001037395" "00006951" "30" "86" "-220" "86" "-219" "c.86-220_86-219dup" "r.(=)" "p.(=)" "" "0001037396" "00006951" "30" "86" "-195" "86" "-193" "c.86-195_86-193del" "r.(=)" "p.(=)" "" "0001037397" "00006951" "30" "86" "-170" "86" "-170" "c.86-170A>G" "r.(=)" "p.(=)" "" "0001037398" "00006951" "50" "431" "0" "431" "0" "c.431C>A" "r.(?)" "p.(Ala144Asp)" "" "0001037399" "00006951" "10" "432" "0" "432" "0" "c.432C>T" "r.(?)" "p.(Ala144=)" "" "0001037400" "00006951" "30" "642" "4047" "642" "4047" "c.642+4047del" "r.(=)" "p.(=)" "" "0001037401" "00006951" "30" "1170" "527" "1170" "527" "c.1170+527C>T" "r.(=)" "p.(=)" "" "0001037402" "00006951" "30" "1249" "-342" "1249" "-342" "c.1249-342G>A" "r.(=)" "p.(=)" "" "0001037403" "00006951" "30" "1648" "-4227" "1648" "-4227" "c.1648-4227dup" "r.(=)" "p.(=)" "" "0001037404" "00006951" "50" "3154" "0" "3154" "0" "c.3154A>G" "r.(?)" "p.(Ile1052Val)" "" "0001037405" "00006951" "30" "3258" "211" "3258" "211" "c.3258+211G>A" "r.(=)" "p.(=)" "" "0001037406" "00006951" "30" "3540" "540" "3540" "540" "c.3540+540T>C" "r.(=)" "p.(=)" "" "0001037407" "00006951" "50" "3776" "0" "3776" "0" "c.3776G>A" "r.(?)" "p.(Gly1259Asp)" "" "0001046191" "00006951" "30" "466" "0" "466" "0" "c.466C>G" "r.(?)" "p.(Pro156Ala)" "" "0001053474" "00006951" "50" "-4173" "0" "-4173" "0" "c.-4173C>G" "r.(?)" "p.(=)" "" "0001053475" "00006951" "30" "22" "-41622" "22" "-41622" "c.22-41622A>T" "r.(=)" "p.(=)" "" "0001053476" "00006951" "30" "36" "0" "36" "0" "c.36G>C" "r.(?)" "p.(Arg12Ser)" "" "0001053477" "00006951" "30" "86" "-249" "86" "-248" "c.86-249_86-248dup" "r.(=)" "p.(=)" "" "0001053478" "00006951" "30" "333" "0" "333" "0" "c.333C>G" "r.(?)" "p.(=)" "" "0001053479" "00006951" "50" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Ala144Ser)" "" "0001053480" "00006951" "30" "933" "0" "933" "0" "c.933G>A" "r.(?)" "p.(=)" "" "0001053481" "00006951" "30" "2705" "0" "2705" "0" "c.2705G>A" "r.(?)" "p.(Arg902Gln)" "" "0001053482" "00006951" "30" "3180" "10" "3180" "10" "c.3180+10G>T" "r.(=)" "p.(=)" "" "0001053483" "00006951" "50" "3180" "46" "3180" "46" "c.3180+46dup" "r.(=)" "p.(=)" "" "0001053484" "00006951" "30" "3540" "452" "3540" "452" "c.3540+452T>G" "r.(=)" "p.(=)" "" "0001053485" "00006951" "30" "3540" "454" "3540" "454" "c.3540+454A>G" "r.(=)" "p.(=)" "" "0001053486" "00006951" "30" "3541" "-362" "3541" "-362" "c.3541-362del" "r.(=)" "p.(=)" "" "0001053487" "00006951" "50" "3699" "0" "3699" "0" "c.3699G>T" "r.(?)" "p.(Glu1233Asp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 66 "{{screeningid}}" "{{variantid}}" "0000050474" "0000079454" "0000052058" "0000081498" "0000052059" "0000081499" "0000052062" "0000081501" "0000052063" "0000081503" "0000052064" "0000081504" "0000052065" "0000081505" "0000052066" "0000081506" "0000052067" "0000081507" "0000052068" "0000081508" "0000052069" "0000081509" "0000052070" "0000081510" "0000052071" "0000081511" "0000052072" "0000081512" "0000052073" "0000081513" "0000052074" "0000081514" "0000052075" "0000081515" "0000052076" "0000081516" "0000052077" "0000081517" "0000152410" "0000336565" "0000290463" "0000647132" "0000290595" "0000647281" "0000290602" "0000647288" "0000297958" "0000660665" "0000308876" "0000683310" "0000309087" "0000683550" "0000312607" "0000694211" "0000312608" "0000694212" "0000312609" "0000694213" "0000312610" "0000694214" "0000312611" "0000694215" "0000312612" "0000694216" "0000312613" "0000694217" "0000312668" "0000694272" "0000312669" "0000694273" "0000312670" "0000694274" "0000312671" "0000694275" "0000312672" "0000694276" "0000316205" "0000698355" "0000316227" "0000698377" "0000321351" "0000704180" "0000325884" "0000709028" "0000327078" "0000710710" "0000329768" "0000714152" "0000336176" "0000735312" "0000374579" "0000785370" "0000374580" "0000785371" "0000374581" "0000785372" "0000374582" "0000785373" "0000374583" "0000785374" "0000374584" "0000785375" "0000374585" "0000785376" "0000413194" "0000870620" "0000414669" "0000872370" "0000414670" "0000872371" "0000414671" "0000872372" "0000436816" "0000931482" "0000449566" "0000959815" "0000452053" "0000986002" "0000456773" "0001011135" "0000456774" "0001011136" "0000456775" "0001011137" "0000459614" "0001017685" "0000459888" "0001018834" "0000461042" "0001020122" "0000461043" "0001020132"