### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DNMT3A) # 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}}" "DNMT3A" "DNA (cytosine-5-)-methyltransferase 3 alpha" "2" "p23" "unknown" "LRG_459" "UD_134408399801" "" "https://www.LOVD.nl/DNMT3A" "" "1" "2978" "1788" "602769" "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/DNMT3A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-03-21 17:08:11" "00000" "2025-09-15 14:07:03" ## 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}}" "00006605" "DNMT3A" "transcript variant 3" "002" "NM_022552.4" "" "NP_072046.2" "" "" "" "-267" "4057" "2739" "25564784" "25455830" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00841" "EIEE" "encephalopathy, epileptic, early infantile (EIEE)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-02-20 16:58:56" "04117" "TBRS" "Tatton-Brown-Rahman syndrome (TBRS)" "AD" "615879" "" "tall stature, distinctive facial appearance, intellectual disability" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05093" "cancer" "cancer" "" "" "" "" "" "00006" "2015-10-23 13:34:05" "" "" "06491" "HESJAS" "Heyn-Sproul-Jackson syndrome" "AD" "618724" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DNMT3A" "04117" "DNMT3A" "06491" ## Individuals ## Do not remove or alter this header ## ## Count = 46 "{{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}}" "00101237" "" "" "" "1" "" "01924" "{PMID:Tatton-Brown 2014:24614070}, {DOI:Tatton-Brown 2014:10.1038/ng.2917}, {PMID:Tatton-Brown 2017:28475857}" "2 generation family, 1 affected individual, unaffected non-carrier parents." "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "24614070-COG0274-P1" "00101240" "" "" "" "1" "" "01924" "{PMID:Tatton-Brown 2014:24614070}, {DOI:Tatton-Brown 2014:10.1038/ng.2917}, {PMID:Tatton-Brown 2017:28475857}" "2 generation family, 1 affected individual, unaffected non-carrier parents." "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "24614070-COG1770-P2" "00101242" "" "" "" "1" "" "01924" "{PMID:Tatton-Brown 2014:24614070}, {DOI:Tatton-Brown 2014:10.1038/ng.2917}, {PMID:Tatton-Brown 2017:28475857}" "2 generation family, 1 affected individual, unaffected non-carrier parents." "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "24614070-COG1670-P3" "00101243" "" "" "" "1" "" "01924" "{PMID:Tatton-Brown 2014:24614070}, {DOI:Tatton-Brown 2014:10.1038/ng.2917}, {PMID:Tatton-Brown 2017:28475857}" "2 generation family, 1 affected individual, unaffected non-carrier parents." "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "24614070-COG0141-P4" "00101244" "" "" "" "1" "" "01924" "{PMID:Tatton-Brown 2014:24614070}, {DOI:Tatton-Brown 2014:10.1038/ng.2917}, {PMID:Tatton-Brown 2017:28475857}" "2 generation family, 1 affected individual, unaffected non-carrier parents." "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "24614070-COG0422-P5" "00101245" "" "" "" "1" "" "01924" "{PMID:Tatton-Brown 2014:24614070}, {DOI:Tatton-Brown 2014:10.1038/ng.2917}, {PMID:Tatton-Brown 2017:28475857}" "2 generation family, 1 affected individual, unaffected non-carrier parents." "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "24614070-COG1288-P6" "00101246" "" "" "" "1" "" "01924" "{PMID:Tatton-Brown 2014:24614070}, {DOI:Tatton-Brown 2014:10.1038/ng.2917}, {PMID:Tatton-Brown 2017:28475857}" "2 generation family, 1 affected individual, unaffected non-carrier parents." "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "24614070-COG0553-P7" "00101247" "" "" "" "1" "" "01924" "{PMID:Tatton-Brown 2014:24614070}, {DOI:Tatton-Brown 2014:10.1038/ng.2917}, {PMID:Tatton-Brown 2017:28475857}" "2 generation family, 1 affected individual, unaffected non-carrier parents." "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "24614070-COG1688-P8" "00101248" "" "" "" "1" "" "01924" "{PMID:Tatton-Brown 2014:24614070}, {DOI:Tatton-Brown 2014:10.1038/ng.2917}, {PMID:Tatton-Brown 2017:28475857}" "2 generation family, 1 affected individual, unaffected non-carrier parents." "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "24614070-COG1695-P9" "00101375" "" "" "" "1" "" "01924" "{PMID:Tatton-Brown 2014:24614070}, {DOI:Tatton-Brown 2014:10.1038/ng.2917}, {PMID:Tatton-Brown 2017:28475857}" "2 generation family, 1 affected individual, unaffected non-carrier parents." "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "24614070-COG1512-P10" "00101376" "" "" "" "1" "" "01924" "{PMID:Tatton-Brown 2014:24614070}, {DOI:Tatton-Brown 2014:10.1038/ng.2917}, {PMID:Tatton-Brown 2017:28475857}" "2 generation family, 1 affected individual, unaffected non-carrier parents." "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "24614070-COG1771-P11" "00101377" "" "" "" "1" "" "01924" "{PMID:Tatton-Brown 2014:24614070}, {DOI:Tatton-Brown 2014:10.1038/ng.2917}, {PMID:Tatton-Brown 2017:28475857}" "2 generation family, 1 affected individual , unaffected non-carrier parents." "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "24614070-COG0109-P12" "00101378" "" "" "" "1" "" "01924" "{PMID:Tatton-Brown 2014:24614070}, {DOI:Tatton-Brown 2014:10.1038/ng.2917}, {PMID:Tatton-Brown 2017:28475857}" "2 generation family, 1 affected, unaffected non-carrier parents." "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "24614070-COG1677-P13" "00101382" "" "" "" "1" "" "01924" "{PMID:Tlemsani 2016:27317772}, {DOI:Tlemsani 2016:103638}" "2 generation family, 1 affected (1F), unaffected non-carrier mother, paternal DNA not available." "F" "" "France" "" "0" "" "" "" "27317772-T57-P2" "00101383" "" "" "" "1" "" "01924" "{PMID:Tlemsani 2016:27317772}, {DOI:Tlemsani 2016:103638}" "2 generation family, 1 affected (1M), unaffected non-carrier parents." "M" "" "France" "" "0" "" "" "" "27317772-T214-P3" "00101384" "" "" "" "1" "" "01924" "{PMID:Tlemsani 2016:27317772}, {DOI:Tlemsani 2016:103638}" "2 generation family, 1 affected (1F), unaffected non-carrier parents." "F" "" "France" "" "0" "" "" "" "27317772-T144-P4" "00101394" "" "" "" "1" "" "01924" "{PMID:Tlemsani 2016:27317772}, {DOI:Tlemsani 2016:103638}" "2 generation family, 1 affected (1M), unaffected non-carrier parents." "M" "" "France" "" "0" "" "" "" "27317772-T94-P5" "00101395" "" "" "" "1" "" "01924" "{PMID:Tlemsani 2016:27317772}, {DOI:Tlemsani 2016:103638}" "2 generation family, 1 affected (1F), unaffected non-carrier parents." "F" "" "France" "" "0" "" "" "" "27317772-T8-P6" "00101396" "" "" "" "1" "" "01924" "{PMID:Tlemsani 2016:27317772}, {DOI:Tlemsani 2016:103638}" "2 generation family, 1 affected, unaffected non-carrier parents" "M" "" "France" "" "0" "" "" "" "27317772-T155-P7" "00101397" "" "" "" "1" "" "01924" "{PMID:Tlemsani 2016:27317772}, {DOI:Tlemsani 2016:103638}" "2 generation family, 1 affected (1M), unaffected non-carrier parents." "M" "" "France" "" "0" "" "" "" "27317772-T162-P8" "00101398" "" "" "" "4" "" "01924" "{PMID:Xin 2016:27701732}, {DOI:Xin 2016:10.1111/cge.12878}" "2 generation family, 4 affecteds (3F, 1M), unaffected non-carrier parents." "F" "" "United States" "" "0" "" "" "Old Order Amish" "27701732-FamAPatII3" "00102669" "" "" "00101398" "1" "" "01924" "{PMID:Xin 2016:27701732}, {DOI:Xin 2016:10.1111/cge.12878}" "FamAPatII5" "F" "" "United States" "" "0" "" "" "Old Order Amish" "27701732-FamAPatII5" "00102670" "" "" "00101398" "1" "" "01924" "{PMID:Xin 2016:27701732}, {DOI:Xin 2016:10.1111/cge.12878}" "FamAPatII7" "F" "" "United States" "" "0" "" "" "Old Order Amish" "27701732-FamAPatII7" "00102671" "" "" "00101398" "1" "" "01924" "{PMID:Xin 2016:27701732}, {DOI:Xin 2016:10.1111/cge.12878}" "FamAPatII13" "M" "" "United States" "" "0" "" "" "Old Order Amish" "27701732-FamAPatII13" "00102685" "" "" "" "2" "" "01924" "{PMID:Xin 2016:27701732}, {DOI:Xin 2016:10.1111/cge.12878}" "2 generation family, 2 affecteds (1F, 1M), unaffected non-carrier parents, paternal DNA is not available." "F" "" "Canada" "" "0" "" "" "French Canadian" "27701732-FamBPatII3" "00103205" "" "" "00102685" "1" "" "01924" "{PMID:Xin 2016:27701732}, {DOI:Xin 2016:10.1111/cge.12878}" "FamBPatII7" "M" "" "Canada" "" "0" "" "" "French Canadian" "27701732-FamBPatII7" "00103209" "" "" "" "1" "" "01924" "{PMID:Okamoto 2016:26866722}, {DOI:Okamoto 2016:10.1002/ajmg.a.37588}" "2 generation family, 1 affected (1M), unaffected non-carrier parents" "M" "no" "Japan" "" "0" "" "" "" "26866722-P1" "00103217" "" "" "" "1" "" "01924" "{PMID:Kosaki 2016:27991732}, {DOI:Kosaki 2016:10.1002/ajmg.a.37995}" "2 generation family, 1 affected (1F), unaffected non-carrier parents, paternal samples were unavailable" "F" "no" "Japan" "" "0" "" "" "" "27991732-P1" "00226339" "" "" "" "1" "" "03224" "" "" "F" "?" "" "" "0" "" "" "" "patient8" "00231357" "" "" "" "1" "" "00762" "" "" "M" "no" "Spain" "" "0" "" "" "white" "Patient 1" "00231367" "" "" "" "1" "" "00762" "" "" "M" "no" "Spain" "" "0" "" "" "white" "Patient 2" "00231370" "" "" "" "1" "" "00762" "" "" "F" "no" "Spain" "" "0" "" "" "white" "Patient 3" "00231373" "" "" "" "1" "" "00762" "" "" "F" "no" "Spain" "" "0" "" "" "white" "Patient 4" "00231374" "" "" "" "1" "" "00762" "" "" "F" "no" "Spain" "" "0" "" "" "white" "Patient 5" "00231375" "" "" "" "1" "" "00762" "" "" "M" "no" "Spain" "" "0" "" "" "" "Patient 6" "00245882" "" "" "" "1" "" "00762" "" "" "F" "no" "Spain" "" "0" "" "" "white" "Patient 7" "00301264" "" "" "" "1" "" "03512" "{PMID:Minardi 2020:32725632}" "" "F" "" "Italy" "" "" "" "" "" "" "00435098" "" "" "" "1" "" "04503" "" "" "M" "no" "Spain" "" "0" "" "" "white" "" "00435101" "" "" "" "1" "" "04503" "" "" "" "" "" "" "" "" "" "" "" "00435102" "" "" "" "1" "" "04503" "" "" "M" "" "" "" "" "" "" "" "" "00438662" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0515" "00450230" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG0108" "00450231" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG0316" "00450232" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG0510" "00450233" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG1632" "00450234" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG1760" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 46 "{{individualid}}" "{{diseaseid}}" "00101237" "00198" "00101240" "00198" "00101242" "00198" "00101243" "00198" "00101244" "00198" "00101245" "00198" "00101246" "00198" "00101247" "00198" "00101248" "00198" "00101375" "00198" "00101376" "00198" "00101377" "00198" "00101378" "00198" "00101382" "00198" "00101383" "00198" "00101384" "00198" "00101394" "00198" "00101395" "00198" "00101396" "00198" "00101397" "00198" "00101398" "00198" "00102669" "00198" "00102670" "00198" "00102671" "00198" "00102685" "00198" "00103205" "00198" "00103209" "04117" "00103217" "00198" "00226339" "05093" "00231357" "04117" "00231367" "04117" "00231370" "04117" "00231373" "04117" "00231374" "04117" "00231375" "04117" "00245882" "04117" "00301264" "00841" "00435098" "04117" "00435101" "04117" "00435102" "04117" "00438662" "06906" "00450230" "00198" "00450231" "00198" "00450232" "00198" "00450233" "00198" "00450234" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00841, 04117, 05093, 06491, 06906 ## Count = 30 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Cancer/Sub_type}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000079481" "00198" "00101237" "01924" "-" "03y" "Overgrowth syndrome with intellectual disability; Height (2.6 SD), OFC (2.2 SD); \r\nModerate intellectual disability (HP:0002342), Seizures(HP:0001250), distinctive facial appearance, round face (HP:0000311), heavy horizontal eyebrows(HP:0000574, HP:0004523), narrow palpebral fissures (HP:0000581), tall stature (HP:0000098)" "00y00m00d" "" "" "" "" "" "" "" "" "" "Tatton-Brown-Rahman syndrome" "overgrowth syndrome" "" "0000079482" "00198" "00101240" "01924" "-" "09y" "Overgrowth syndrome with intellectual disability; Height (2.9 SD), OFC (3.7 SD);\r\nmoderate intellectual disability (HP:0002342), Ventriculomegaly (HP:0002119), umbilical hernia (HP:0001537), scoliosis (HP:0002650), distinctive facial appearance, round face (HP:0000311), heavy horizontal eyebrows(HP:0000574, HP:0004523), narrow palpebral fissures (HP:0000581), \r\ntall stature (HP:0000098)" "00y00m00d" "" "" "" "" "" "" "" "" "" "Tatton-Brown-Rahman syndrome" "overgrowth syndrome" "" "0000079486" "00198" "00101242" "01924" "-" "20y06m" "Overgrowth syndrome with intellectual disability; Height (3.2 SD), OFC (2.8 SD);\r\nmoderate intellectual disability (HP:0002342), distinctive facial appearance, round face (HP:0000311), heavy horizontal eyebrows (HP:0000574,HP:0004523), narrow palpebral fissures (HP:0000581), \r\ntall stature (HP:0000098)" "00y00m00d" "" "" "" "" "" "" "" "" "" "Tatton-Brown-Rahman syndrome" "overgrowth syndrome" "" "0000079487" "00198" "00101243" "01924" "-" "05y09m" "Overgrowth syndrome with intellectual disability; Height (2.3 SD), OFC (NA) SD; \r\nmoderate intellectual disability (HP:0002342), distinctive facial appearance, round face (HP:0000311), heavy horizontal eyebrows(HP:0000574, HP:0004523), narrow palpebral fissures (HP:0000581), \r\ntall stature (HP:0000098)" "00y00m00d" "" "" "" "" "" "" "" "" "" "Tatton-Brown-Rahman syndrome" "overgrowth syndrome" "" "0000079488" "00198" "00101244" "01924" "-" "04y01m" "Overgrowth syndrome with intellectual disability; Height (1.9 SD), OFC (1.2 SD);\r\nmoderate intellectual disability (HP:0002342),distinctive facial appearance, round face (HP:0000311), heavy horizontal eyebrows(HP:0000574, HP:0004523), narrow palpebral fissures (HP:0000581), \r\ntall stature (HP:0000098), Atrio-septal defect (HP:0001631)" "00y00m00d" "" "" "" "" "" "" "" "" "" "Tatton-Brown-Rahman syndrome" "overgrowth syndrome" "" "0000079489" "00198" "00101245" "01924" "-" "11y03m" "Overgrowth syndrome with intellectual disability; Height (1.8 SD), OFC (3.8 SD);\r\nmoderate intellectual disability (HP:0002342),distinctive facial appearance, round face (HP:0000311), heavy horizontal eyebrows(HP:0000574, HP:0004523), narrow palpebral fissures (HP:0000581), \r\ntall stature (HP:0000098), Atrio-septal defect (HP:0001631), sagittal craniosynostosis (HP:0004442)" "00y00m00d" "" "" "" "" "" "" "" "" "" "Tatton-Brown-Rahman syndrome" "overgrowth syndrome" "" "0000079490" "00198" "00101246" "01924" "-" "19y" "Overgrowth syndrome with intellectual disability; Height (3.4 SD), OFC (5.1 SD); mild intellectual disability (HP:0001256),distinctive facial appearance, round face (HP:0000311), heavy horizontal eyebrows(HP:0000574, HP:0004523), narrow palpebral fissures (HP:0000581), \r\ntall stature (HP:0000098), mild hemihypertrophy (HP:0001528), umbilical hernia (HP:0001537)." "00y00m00d" "" "" "" "" "" "" "" "" "" "Tatton-Brown-Rahman syndrome" "overgrowth syndrome" "" "0000079491" "00198" "00101247" "01924" "-" "13y" "Overgrowth syndrome with intellectual disability; Height (2.8 SD) , OFC (2.1 SD); moderate intellectual disability (HP:0002342),distinctive facial appearance, round face (HP:0000311), heavy horizontal eyebrows(HP:0000574, HP:0004523), narrow palpebral fissures (HP:0000581), \r\ntall stature (HP:0000098), scoliosis (HP:0002650)." "00y00m00d" "" "" "" "" "" "" "" "" "" "Tatton-Brown-Rahman syndrome" "overgrowth syndrome" "" "0000079580" "00198" "00101248" "01924" "-" "12y" "Overgrowth syndrome with intellectual disability; Height (4.0 SD), OFC (3.8 SD); moderate intellectual disability (HP:0002342),distinctive facial appearance, round face (HP:0000311), heavy horizontal eyebrows(HP:0000574, HP:0004523), narrow palpebral fissures (HP:0000581), \r\ntall stature (HP:0000098), Vesico-ureteric reflux (HP:0000076), patella subluxation (HP:0010499)" "00y00m00d" "" "" "" "" "" "" "" "" "" "Tatton-Brown-Rahman syndrome" "overgrowth syndrome" "" "0000079582" "00198" "00101375" "01924" "-" "08y02m" "Overgrowth syndrome with intellectual disability; Height (3.8 SD), OFC (1.6 SD); moderate intellectual disability (HP:0002342),distinctive facial appearance, round face (HP:0000311), heavy horizontal eyebrows(HP:0000574, HP:0004523), narrow palpebral fissures (HP:0000581), \r\ntall stature (HP:0000098)." "00y00m00d" "" "" "" "" "" "" "" "" "" "Tatton-Brown-Rahman syndrome" "overgrowth syndrome" "" "0000079583" "00198" "00101376" "01924" "-" "13y04m" "Overgrowth syndrome with intellectual disability; Height 4.2 SD above mean (mean 3.0), OFC 1.7 SD above mean (mean 2.5).\r\n\r\nMild intellectual disability (HP:0001256),distinctive facial appearance, round face (HP:0000311), heavy horizontal eyebrows(HP:0000574, HP:0004523), narrow palpebral fissures (HP:0000581), \r\ntall stature (HP:0000098),Testicular atrophy (HP:0000029), seizures (HP:0001250), scoliosis (HP:0002650)." "00y00m00d" "" "" "" "" "" "" "" "" "" "Tatton-Brown-Rahman syndrome" "overgrowth syndrome" "" "0000079584" "00198" "00101377" "01924" "-" "09y08m" "Overgrowth syndrome with intellectual disability; Height 2.7 SD above mean (mean 3.0), OFC 1.3 SD above mean (mean 2.5).\r\n\r\nModerate intellectual disability (HP:0002342),distinctive facial appearance, round face (HP:0000311), heavy horizontal eyebrows(HP:0000574, HP:0004523), narrow palpebral fissures (HP:0000581), \r\ntall stature (HP:0000098), Mitral and tricuspid regurgitation (HP:0001653,HP:0005180), kyphoscoliosis (HP:0002751)." "00y00m00d" "" "" "" "" "" "" "" "" "" "Tatton-Brown-Rahman syndrome" "overgrowth syndrome" "" "0000079585" "00198" "00101378" "01924" "-" "11y" "Overgrowth syndrome with intellectual disability; Height 3.7 SD above mean (mean 3.0), OFC 1.2 SD above mean (mean 2.5).\r\n\r\nModerate intellectual disability (HP:0002342),distinctive facial appearance, round face (HP:0000311), heavy horizontal eyebrows(HP:0000574, HP:0004523), narrow palpebral fissures (HP:0000581), \r\ntall stature (HP:0000098)." "00y00m00d" "" "" "" "" "" "" "" "" "" "Tatton-Brown-Rahman syndrome" "overgrowth syndrome" "" "0000079592" "00198" "00101383" "01924" "-" "30y" "Sotos-like syndrome; Height (+6 SD), OFC (+4 SD), Weight (+8 SD); \r\nmild intellectual deficiency (HP:0001256),\r\nschizophrenia (HP:0100753), coarse facies (HP:0000280), thick horizontal eyebrows (HP:0011228, HP:0000574), large nasal bridge (HP:0000431), marked philtrum (HP:0002002), long hands and feet HP:0001833), hypothyroidy (HP:0000821), hypogonadotropic hypogonadism (HP:0000044), BMI 27.4 overweight (HP:0001513), supernumerary teeth (HP:0011069), sensory-motor axonal neuropathy (HP:0007002)." "00y00m00d" "" "" "" "" "" "" "" "" "" "" "Sotos-like syndrome" "" "0000079600" "00198" "00101384" "01924" "-" "03y09m" "Sotos-like syndrome; Height (+2 SD), OFC (+3 SD), Weight (+0.8 SD); mild intellectual deficiency (HP:0001256), behavioural disorder (HP:0000708), aggressiveness (HP:0000718); horizontal eyebrows (HP:0011228), marked philtrum (HP:0002002), downslanting palpebral fissures (HP:0000494), normal hands and feet; normal bone age, BMI 15.3 no overweight." "00y00m00d" "" "" "" "" "" "" "" "" "" "" "Sotos-like syndrome" "" "0000079601" "00198" "00101394" "01924" "-" "13y" "Sotos-like syndrome; Height (+4 SD), OFC (+4 SD), Weight (+6 SD); mild intellectual deficiency (HP:0001256), \r\nhorizontal eyebrows (HP:0011228), marked philtrum (HP:0002002), downslanting palpebral fissures (HP:0000494), large nasal bridge (HP:0000431), normal hands and feet, bone age not available, 4 Café-au-lait spots (HP:0000957), obesity BMI 29.4 (HP:0001513), abdominal striae distensae (HP:0001065)." "00y00m00d" "" "" "" "" "" "" "" "" "" "" "Sotos-like syndrome" "" "0000079602" "00198" "00101395" "01924" "-" "09y" "Sotos-like syndrome; Height (+6 SD), OFC (+3 SD), Weight (+5 SD); mild intellectual deficiency (HP:0001256), large nasal bridge (HP:0000431),thick nasal alae (HP:0009928), marked philtrum (HP:0002002), normal hands and feet, advanced bone age (HP:0005616), BMI 16.5 (no overweight), malposition of teeth (HP:0000692), nystagmus(HP:0000639)." "00y00m00d" "" "" "" "" "" "" "" "" "" "" "Sotos-like syndrome" "" "0000079603" "00198" "00101396" "01924" "-" "17y02m" "height (+2 SD), OFC (+3 SD), weight (+4.5 SD); mild intellectual deficiency (HP:0001256); horizontal eyebrows (HP:0011228), marked philtrum (HP:0002002), downslanting palpebral fissures (HP:0000494), thick nasal alae (HP:0009928), normal hands and feet; advanced bone age at younger age (HP:0005616), hyperlaxity (HP:0001388), kyphosis (HP:0002808), recurrent pneumothorax (HP:0006522), overweight BMI 28 (HP:0001513), abdominal striae distensae (HP:0001065)" "00y00m00d" "" "" "" "" "" "" "" "" "" "" "Sotos-like syndrome" "" "0000079604" "00198" "00101397" "01924" "-" "07y10m" "Sotos-like syndrome; Height (+4 SD), OFC (+2.5 SD), Weight (+3.8 SD);\r\nmild intellectual deficiency (HP:0001256), \r\nhorizontal eyebrows (HP:0011228), marked philtrum (HP:0002002), downslanting palpebral fissures (HP:0000494), thick nasal alae (HP:0009928),Large nasal bridge (HP:0000431), normal hands and feet, \r\nadvanced bone age (HP:0005616), BMI 16.5 (no overweight), nystagmus(HP:0000639), Atrial septal defect (HP:0001631)." "00y00m00d" "" "" "" "" "" "" "" "" "" "" "Sotos-like syndrome" "" "0000080845" "00198" "00101398" "01924" "Familial, autosomal dominant" "25y" "Overgrowth syndrome with intellectual disability; birth length 54.3cm, weight 4939g; 25y length 173cm, weight 96kg, BMI 32; Long oval face (HP:0000276, HP:0000300), heavy horizontal eyebrow (HP:0000574, HP:0011228), Narrow palpebral fissures (HP:0000581), Overcrowding of teeth(HP:0000678), High arched palate (HP:0002705), Pes Planus (HP:0001763), Hypermobility of joints (HP:0001382), Hypotonia (HP:0001290), Depression (HP:0000716), Thyroid nodules (HP:0005994)." "00y00m00d" "" "" "" "" "" "" "" "" "" "Tatton-Brown–Rahman syndrome" "" "" "0000081294" "00198" "00103217" "01924" "-" "06y" "Overgrowth syndrome with intellectual disability; birth 40w, weight 3926g, length 54cm, OFC 34.2 cm; 00y01m hypotonia (HP:0001290), ventricular septal defect (HP:0001629); 03y02m weight 16.8kg, length 98.6cm, round face (HP:0000311), hypertelorism (HP:0000316), narrow palpebral fissures (HP:0000581), horizontal eyebrows (HP:0011228), short upturned nose (HP:0000463), deep philtral groove (HP:0011825), and a protruding upper lip (HP:0010803), hypotonia (HP:0001290), talipes valgus (HP:0004684), lipoma of the filum terminale, sacral cyst, umbilical hernia (HP:0001537), urachal remnant (HP:0001537), Chiari type I anomaly (HP:0007099), ...see article" "00y00m00d" "06y" "04y06m" "" "" "" "" "" "" "" "Tatton-Brown–Rahman syndrome" "" "" "0000081301" "04117" "00103209" "01924" "Isolated (sporadic)" "05y" "overgrowth syndrome with intellectual disability; birth 42w, weight 3980 g, length of 52.3 cm, OFC 36.2 cm; 5y height was 121.2 cm, weight 24.3kg, OFC 56.5cm; developmental delay since early infancy (HP:0001263), delayed motor development (HP:0001270), early eruption of permanent teeth (HP:0006337), heavy horizontal eyebrows (HP:0000574, HP:0011228), narrow down-slanting palpebral fissures Narrow palpebral fissures (HP:0000494, HP:0000581), epicanthal folds (HP:0000286), low set ears (HP:0000369), high palate (HP:0000218)" "" "" "1d" "" "" "" "" "" "" "" "" "" "" "0000171472" "05093" "00226339" "03224" "Unknown" "" "dysembryoplastic neuroepithelial tumour" "" "" "" "" "" "" "" "" "" "" "" "dysembryoplastic neuroepithelial tumour" "" "0000228534" "00841" "00301264" "03512" "Unknown" "" "" "" "" "" "" "" "yes" "" "" "" "" "" "" "" "0000328565" "06906" "00438662" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000339290" "00198" "00450230" "00006" "Isolated (sporadic)" "22y" "overgrowth; moderate intellectual disability;" "" "" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339291" "00198" "00450231" "00006" "Isolated (sporadic)" "22y" "overgrowth height; severe intellectual disability;" "" "" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339292" "00198" "00450232" "00006" "Isolated (sporadic)" "18y" "overgrowth height; mild intellectual disability;" "" "" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339293" "00198" "00450233" "00006" "Isolated (sporadic)" "17y" "overgrowth head, overgrowth height; moderate intellectual disability;" "" "" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339294" "00198" "00450234" "00006" "Isolated (sporadic)" "15y" "overgrowth head, overgrowth height; mild intellectual disability;" "" "" "" "" "" "" "" "" "" "" "" "overgrowth" "" ## Screenings ## Do not remove or alter this header ## ## Count = 46 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000101682" "00101237" "1" "01924" "01924" "2017-03-23 15:19:38" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral Blood" "" "0000101684" "00101240" "1" "01924" "01924" "2017-03-23 17:26:19" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral Blood" "" "0000101690" "00101242" "1" "01924" "01924" "2017-03-24 10:34:18" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral Blood" "" "0000101691" "00101243" "1" "01924" "01924" "2017-03-24 11:07:18" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral Blood" "" "0000101692" "00101244" "1" "01924" "01924" "2017-03-24 11:25:54" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral Blood" "" "0000101693" "00101245" "1" "01924" "01924" "2017-03-24 11:39:11" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral Blood" "" "0000101694" "00101246" "1" "01924" "01924" "2017-03-24 11:46:42" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral Blood" "" "0000101695" "00101247" "1" "01924" "01924" "2017-03-24 11:56:33" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral Blood" "" "0000101696" "00101248" "1" "01924" "01924" "2017-03-24 12:12:00" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral Blood" "" "0000101823" "00101375" "1" "01924" "01924" "2017-03-24 13:06:02" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral Blood" "" "0000101824" "00101376" "1" "01924" "01924" "2017-03-24 13:28:34" "01924" "2017-03-29 12:21:35" "SEQ;SEQ-NG" "DNA" "Peripheral Bl" "" "0000101825" "00101377" "1" "01924" "01924" "2017-03-24 13:39:20" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral Blood" "" "0000101826" "00101378" "1" "01924" "01924" "2017-03-24 13:49:31" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral Blood" "" "0000101830" "00101382" "1" "01924" "01924" "2017-03-28 10:42:33" "" "" "SEQ;SEQ-NG" "DNA" "Blood samples" "" "0000101831" "00101383" "1" "01924" "01924" "2017-03-28 11:10:11" "" "" "SEQ;SEQ-NG" "DNA" "Blood samples" "" "0000101840" "00101384" "1" "01924" "01924" "2017-03-29 09:49:22" "" "" "SEQ;SEQ-NG" "DNA" "Blood samples" "" "0000101841" "00101394" "1" "01924" "01924" "2017-03-29 10:16:01" "" "" "SEQ;SEQ-NG" "DNA" "Blood samples" "" "0000101842" "00101395" "1" "01924" "01924" "2017-03-29 10:30:20" "" "" "SEQ;SEQ-NG" "DNA" "Blood samples" "" "0000101843" "00101396" "1" "01924" "01924" "2017-03-29 11:01:14" "00006" "2017-03-30 18:55:58" "SEQ;SEQ-NG" "DNA" "Blood samples" "" "0000101844" "00101397" "1" "01924" "01924" "2017-03-29 11:16:21" "" "" "SEQ;SEQ-NG" "DNA" "Blood samples" "" "0000101845" "00101398" "1" "01924" "01924" "2017-03-29 13:03:55" "" "" "SEQ;SEQ-NG-I" "DNA" "Saliva and urine samples" "" "0000103120" "00102669" "1" "01924" "01924" "2017-03-31 14:54:40" "" "" "SEQ;SEQ-NG" "DNA" "Saliva and urine samples" "" "0000103121" "00102670" "1" "01924" "01924" "2017-03-31 15:21:01" "" "" "SEQ;SEQ-NG" "DNA" "Saliva and urine samples" "" "0000103122" "00102671" "1" "01924" "01924" "2017-03-31 15:42:18" "" "" "SEQ;SEQ-NG" "DNA" "Saliva and urine samples" "" "0000103658" "00102685" "1" "01924" "01924" "2017-04-05 15:00:16" "" "" "SEQ;SEQ-NG" "DNA" "Saliva and urine samples" "" "0000103659" "00103205" "1" "01924" "01924" "2017-04-05 15:31:36" "" "" "SEQ;SEQ-NG" "DNA" "Saliva and urine samples" "" "0000103663" "00103209" "1" "01924" "01924" "2017-04-07 15:19:42" "" "" "arrayCGH;FISH" "DNA" "Peripheral Blood" "" "0000103672" "00103217" "1" "01924" "01924" "2017-04-10 13:28:03" "" "" "SEQ;SEQ-NG-I" "DNA" "Peripheral Blood, buccal tissue" "" "0000227415" "00226339" "1" "03224" "03224" "2019-03-08 13:21:09" "" "" "SEQ-NG" "DNA" "Brain tissue" "gene panel" "0000232455" "00231357" "1" "00762" "00762" "2019-04-30 15:30:29" "" "" "SEQ-NG-I" "RNA" "Blood" "Custom gene panel" "0000232465" "00231367" "1" "00762" "00762" "2019-04-30 15:52:09" "" "" "SEQ-NG-I" "RNA" "Blood" "Custom gene panel" "0000232468" "00231370" "1" "00762" "00762" "2019-04-30 15:56:51" "" "" "SEQ-NG-I" "DNA" "Blood" "Custom gene panel" "0000232471" "00231373" "1" "00762" "00762" "2019-04-30 16:01:22" "" "" "SEQ-NG-I" "DNA" "Blood" "Custom gene panel" "0000232472" "00231374" "1" "00762" "00762" "2019-04-30 16:06:15" "" "" "SEQ-NG-I" "DNA" "Blood" "Custom gene panel" "0000232473" "00231375" "1" "00762" "00762" "2019-04-30 16:09:55" "" "" "SEQ-NG-I" "DNA" "Blood" "Custom gene panel" "0000246994" "00245882" "1" "00762" "00762" "2019-07-10 15:06:54" "" "" "SEQ-NG-I" "DNA" "Blood" "Whole Exome Sequencing" "0000302388" "00301264" "1" "03512" "03512" "2020-05-11 20:53:21" "" "" "SEQ-NG-I" "DNA" "" "" "0000436570" "00435098" "1" "04503" "04503" "2023-05-09 15:25:30" "" "" "SEQ-NG" "DNA" "Blood" "" "0000436573" "00435101" "1" "04503" "04503" "2023-05-10 10:10:02" "" "" "SEQ-NG" "DNA" "Blood" "WES" "0000436574" "00435102" "1" "04503" "04503" "2023-05-10 10:15:42" "" "" "SEQ-NG" "DNA" "Blood" "" "0000440144" "00438662" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000451826" "00450230" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ" "DNA" "" "" "0000451827" "00450231" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ" "DNA" "" "" "0000451828" "00450232" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451829" "00450233" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ" "DNA" "" "" "0000451830" "00450234" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 40 "{{screeningid}}" "{{geneid}}" "0000101682" "DNMT3A" "0000101684" "DNMT3A" "0000101690" "DNMT3A" "0000101691" "DNMT3A" "0000101692" "DNMT3A" "0000101693" "DNMT3A" "0000101694" "DNMT3A" "0000101695" "DNMT3A" "0000101696" "DNMT3A" "0000101823" "DNMT3A" "0000101824" "DNMT3A" "0000101825" "DNMT3A" "0000101826" "DNMT3A" "0000101830" "DNMT3A" "0000101830" "SETD2" "0000101831" "DNMT3A" "0000101831" "SETD2" "0000101840" "DNMT3A" "0000101840" "SETD2" "0000101841" "DNMT3A" "0000101841" "SETD2" "0000101842" "DNMT3A" "0000101842" "SETD2" "0000101843" "DNMT3A" "0000101843" "SETD2" "0000101844" "DNMT3A" "0000101844" "SETD2" "0000101845" "DNMT3A" "0000103120" "DNMT3A" "0000103121" "DNMT3A" "0000103122" "DNMT3A" "0000103658" "DNMT3A" "0000103659" "DNMT3A" "0000103663" "DNMT3A" "0000103672" "DNMT3A" "0000227415" "DNMT3A" "0000232472" "DNMT3A" "0000436570" "DNMT3A" "0000436573" "DNMT3A" "0000436574" "DNMT3A" ## 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 = 153 "{{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}}" "0000164350" "0" "90" "2" "25470584" "25470586" "del" "0" "01924" "DNMT3A_000003" "g.25470584_25470586del" "1/152 cases" "{PMID:Tatton-Brown 2014:24614070}, {DOI:Tatton-Brown 2014:10.1038/ng.2917}, {PMID:Tatton-Brown 2017:28475857}" "BsaXI-" "889_891delTGG (Trp297del)" "inframe deletion" "De novo" "" "" "0" "" "" "g.25247715_25247717del" "" "pathogenic" "" "0000164351" "0" "90" "2" "25470545" "25470545" "subst" "0" "01924" "DNMT3A_000004" "g.25470545A>T" "1/152 cases" "{PMID:Tatton-Brown 2014:24614070}, {DOI:Tatton-Brown 2014:10.1038/ng.2917}, {PMID:Tatton-Brown 2017:28475857}" "BsrDI+" "" "" "De novo" "" "" "0" "" "" "g.25247676A>T" "" "pathogenic" "" "0000164427" "0" "90" "2" "25470537" "25470540" "dup" "0" "01924" "DNMT3A_000005" "g.25470537_25470540dup" "1/152 cases" "{PMID:Tatton-Brown 2014:24614070}, {DOI:Tatton-Brown 2014:10.1038/ng.2917}, {PMID:Tatton-Brown 2017:28475857}" "" "934_937dupTCTT" "" "De novo" "" "" "0" "" "" "g.25247668_25247671dup" "" "pathogenic" "" "0000164428" "0" "90" "2" "25467482" "25467482" "subst" "0" "01924" "DNMT3A_000006" "g.25467482C>T" "1/152 cases" "{PMID:Tatton-Brown 2014:24614070}, {DOI:Tatton-Brown 2014:10.1038/ng.2917}, {PMID:Tatton-Brown 2017:28475857}" "AluI+; BceAI-" "" "" "De novo" "" "" "0" "" "" "g.25244613C>T" "" "pathogenic" "" "0000164429" "0" "90" "2" "25467433" "25467433" "subst" "0" "01924" "DNMT3A_000007" "g.25467433A>T" "1/152 cases" "{PMID:Tatton-Brown 2014:24614070}, {DOI:Tatton-Brown 2014:10.1038/ng.2917}, {PMID:Tatton-Brown 2017:28475857}" "BpuEI+; SmlI+; CviAII-; FatI-; NlaIII-" "" "" "De novo" "" "" "0" "" "" "g.25244564A>T" "" "pathogenic" "" "0000164430" "0" "90" "2" "25467431" "25467431" "subst" "0" "01924" "DNMT3A_000008" "g.25467431A>G" "1/152 cases" "{PMID:Tatton-Brown 2014:24614070}, {DOI:Tatton-Brown 2014:10.1038/ng.2917}, {PMID:Tatton-Brown 2017:28475857}" "BstUI+; HhaI+; HinP1I+" "" "" "De novo" "" "" "0" "" "" "g.25244562A>G" "" "pathogenic" "" "0000164431" "0" "90" "2" "25464570" "25464570" "subst" "0" "01924" "DNMT3A_000009" "g.25464570A>G" "1/152 cases" "{PMID:Tatton-Brown 2014:24614070}, {DOI:Tatton-Brown 2014:10.1038/ng.2917}, {PMID:Tatton-Brown 2017:28475857}" "HpaII+; MspI+; NciI+; BstNI-; PspGI-" "" "" "De novo" "" "" "0" "" "" "g.25241701A>G" "" "pathogenic" "" "0000164432" "0" "90" "2" "25463583" "25463583" "subst" "0" "01924" "DNMT3A_000010" "g.25463583G>A" "1/152 cases" "{PMID:Tatton-Brown 2014:24614070}, {DOI:Tatton-Brown 2014:10.1038/ng.2917}, {PMID:Tatton-Brown 2017:28475857}" "ApaI-; BaeGI-; BanII-; Bsp1286I-; PspOMI-" "" "" "De novo" "" "" "0" "" "" "g.25240714G>A" "" "pathogenic" "" "0000164558" "0" "90" "2" "25463248" "25463248" "subst" "0" "01924" "DNMT3A_000011" "g.25463248G>A" "1/152 cases" "{PMID:Tatton-Brown 2014:24614070}, {DOI:Tatton-Brown 2014:10.1038/ng.2917}, {PMID:Tatton-Brown 2017:28475857}" "BfuCI-; DpnI-; DpnII-; MboI-; Sau3AI-" "" "" "De novo" "" "" "0" "" "" "g.25240379G>A" "" "pathogenic" "" "0000164563" "0" "90" "2" "25463197" "25463197" "dup" "0" "01924" "DNMT3A_000012" "g.25463197dup" "1/152 cases" "{PMID:Tatton-Brown 2014:24614070}, {DOI:Tatton-Brown 2014:10.1038/ng.2917}, {PMID:Tatton-Brown 2017:28475857}" "" "2297dupA (Arg767fs)" "" "De novo" "" "" "0" "" "" "g.25240328dup" "" "pathogenic" "" "0000164564" "0" "90" "2" "25458661" "25458661" "subst" "0" "01924" "DNMT3A_000013" "g.25458661T>C" "1/152 cases" "{PMID:Tatton-Brown 2014:24614070}, {DOI:Tatton-Brown 2014:10.1038/ng.2917}, {PMID:Tatton-Brown 2017:28475857}" "HinfI+; Hpy188I+; MlyI+; PleI+" "" "" "De novo" "" "" "0" "" "" "g.25235792T>C" "" "pathogenic" "" "0000164565" "0" "90" "2" "25457182" "25457182" "subst" "4.06382E-6" "01924" "DNMT3A_000014" "g.25457182A>G" "1/152 cases" "{PMID:Tatton-Brown 2014:24614070}, {DOI:Tatton-Brown 2014:10.1038/ng.2917}, {PMID:Tatton-Brown 2017:28475857}" "BsrBI+; EarI-; MboII-" "" "" "De novo" "" "" "0" "" "" "g.25234313A>G" "" "pathogenic" "" "0000164566" "0" "90" "2" "25457176" "25457176" "subst" "3.25335E-5" "01924" "DNMT3A_000015" "g.25457176G>A" "1/152 cases" "{PMID:Tatton-Brown 2014:24614070}, {DOI:Tatton-Brown 2014:10.1038/ng.2917}, {PMID:Tatton-Brown 2017:28475857}" "MspA1I-" "" "" "De novo" "" "" "0" "" "" "g.25234307G>A" "" "pathogenic" "" "0000164571" "0" "70" "2" "25470516" "25470516" "subst" "1.62513E-5" "01924" "DNMT3A_000016" "g.25470516G>A" "1/210 cases" "{PMID:Tlemsani 2016:27317772}, {DOI:Tlemsani 2016:103638}" "BlpI+; BspCNI+; DdeI+" "" "Mother non-carrier, father’s DNA not available" "Germline/De novo (untested)" "" "" "0" "" "" "g.25247647G>A" "" "likely pathogenic" "" "0000164572" "21" "70" "2" "25469958" "25469958" "subst" "0" "01924" "DNMT3A_000017" "g.25469958G>A" "1/210" "{PMID:Tlemsani 2016:27317772}, {DOI:Tlemsani 2016:103638}" "ApeKI-; BbvI-; Fnu4HI-; TseI-" "" "germline mosaicism in unaffected mother" "Germline" "" "" "0" "" "" "g.25247089G>A" "" "likely pathogenic" "" "0000164583" "0" "70" "2" "25469948" "25469948" "subst" "0" "01924" "DNMT3A_000018" "g.25469948T>C" "1/210" "{PMID:Tlemsani 2016:27317772}, {DOI:Tlemsani 2016:103638}" "" "" "" "De novo" "" "" "0" "" "" "g.25247079T>C" "" "likely pathogenic" "" "0000164584" "0" "70" "2" "25467491" "25467491" "subst" "0" "01924" "DNMT3A_000019" "g.25467491C>T" "1/210 cases" "{PMID:Tlemsani 2016:27317772}, {DOI:Tlemsani 2016:103638}" "" "" "" "De novo" "" "" "0" "" "" "g.25244622C>T" "" "likely pathogenic" "" "0000164585" "0" "70" "2" "25462074" "25462074" "subst" "0" "01924" "DNMT3A_000020" "g.25462074A>C" "1/210 cases" "{PMID:Tlemsani 2016:27317772}, {DOI:Tlemsani 2016:103638}" "BsaJI+ BslI+ BstNI+ BtsCI+ FokI+ PspGI+ ScrFI+ StyD4I+" "" "" "De novo" "" "" "0" "" "" "g.25239205A>C" "" "likely pathogenic" "" "0000164587" "0" "90" "2" "25457243" "25457243" "subst" "0.000126051" "01924" "DNMT3A_000001" "g.25457243G>A" "1/210 cases" "{PMID:Tlemsani 2016:27317772}, {DOI:Tlemsani 2016:103638}" "EcoO109I-; HaeIII-; Sau96I-" "" "" "De novo" "" "" "0" "" "" "g.25234374G>A" "" "pathogenic" "" "0000165296" "0" "90" "2" "25457243" "25457243" "subst" "0.000126051" "01924" "DNMT3A_000001" "g.25457243G>A" "1/210 cases" "{PMID:Tlemsani 2016:27317772}, {DOI:Tlemsani 2016:103638}" "EcoO109I-; HaeIII-; Sau96I-" "" "" "De novo" "" "rs377577594" "0" "" "" "g.25234374G>A" "" "pathogenic" "" "0000165299" "11" "90" "2" "25463181" "25463181" "subst" "0" "01924" "DNMT3A_000021" "g.25463181C>T" "" "{PMID:Xin 2016:27701732}, {DOI:Xin 2016:10.1111/cge.12878}" "MluCI+; BstUI-; NruI-" "" "inherited from mosaic father (present in blood, absent in saliva)" "Germline" "yes" "" "0" "" "" "g.25240312C>T" "" "pathogenic" "" "0000166203" "11" "90" "2" "25463181" "25463181" "subst" "0" "01924" "DNMT3A_000021" "g.25463181C>T" "" "{PMID:Xin 2016:27701732}, {DOI:Xin 2016:10.1111/cge.12878}" "MluCI+; BstUI-; NruI-" "" "" "Germline" "yes" "" "0" "" "" "g.25240312C>T" "" "pathogenic" "" "0000166210" "11" "90" "2" "25463181" "25463181" "subst" "0" "01924" "DNMT3A_000021" "g.25463181C>T" "" "{PMID:Xin 2016:27701732}, {DOI:Xin 2016:10.1111/cge.12878}" "MluCI+; BstUI-; NruI-" "" "" "Germline" "yes" "" "0" "" "" "g.25240312C>T" "" "pathogenic" "" "0000166213" "11" "90" "2" "25463181" "25463181" "subst" "0" "01924" "DNMT3A_000021" "g.25463181C>T" "" "{PMID:Xin 2016:27701732}, {DOI:Xin 2016:10.1111/cge.12878}" "MluCI+; BstUI-; NruI-" "" "" "Germline" "yes" "" "0" "" "" "g.25240312C>T" "" "pathogenic" "" "0000167126" "0" "90" "2" "25463196" "25463197" "del" "0" "01924" "DNMT3A_000022" "g.25463196_25463197del" "" "{PMID:Xin 2016:27701732}, {DOI:Xin 2016:10.1111/cge.12878}" "" "2296_2297delAA" "father not available" "De novo" "yes" "" "0" "" "" "g.25240327_25240328del" "" "pathogenic" "" "0000167127" "10" "90" "2" "25463196" "25463197" "del" "0" "01924" "DNMT3A_000022" "g.25463196_25463197del" "" "{PMID:Xin 2016:27701732}, {DOI:Xin 2016:10.1111/cge.12878}" "" "2296_2297delAA" "father not available" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.25240327_25240328del" "" "pathogenic" "" "0000167145" "0" "90" "2" "25457242" "25457242" "subst" "0" "01924" "DNMT3A_000023" "g.25457242C>T" "1/13 cases" "{PMID:Kosaki 2016:27991732}, {DOI:Kosaki 2016:10.1002/ajmg.a.37995}" "AciI-;Fnu4HI-" "c.2645G>A, p.Arg882His" "variants absent from maternal genomic DNA, father unavailable" "Germline/De novo (untested)" "" "" "0" "" "" "g.25234373C>T" "" "pathogenic" "" "0000167154" "0" "90" "2" "24012152" "25552894" "" "0" "01924" "DNMT3A_000002" "g.(23900000_24012152)_(25552894_25600000)del" "" "{PMID:Okamoto 2016:26866722}, {DOI:Okamoto 2016:10.1002/ajmg.a.37588}" "" "" "de novo 1.5-Mb deletion 2p23.3" "De novo" "-" "" "0" "" "arr 2p23.3 (24,012,152–25,552,894)x1 dn" "" "" "pathogenic" "" "0000275443" "0" "30" "2" "25469493" "25469493" "subst" "0" "01943" "DNMT3A_000028" "g.25469493T>G" "" "" "" "DNMT3A(NM_175629.2):c.1275A>C (p.P425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25246624T>G" "" "likely benign" "" "0000275444" "0" "10" "2" "25457199" "25457199" "subst" "0.00168606" "01943" "DNMT3A_000024" "g.25457199T>C" "" "" "" "DNMT3A(NM_175629.2):c.2688A>G (p.P896=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25234330T>C" "" "benign" "" "0000275445" "0" "30" "2" "25470960" "25470960" "subst" "0.00248256" "01943" "DNMT3A_000029" "g.25470960G>A" "" "" "" "DNMT3A(NM_001320893.1):c.345C>T (p.(Ser115=)), DNMT3A(NM_022552.5):c.801C>T (p.S267=), DNMT3A(NM_175629.2):c.801C>T (p.S267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25248091G>A" "" "likely benign" "" "0000275446" "0" "30" "2" "25523096" "25523096" "subst" "0.0033057" "01943" "DNMT3A_000030" "g.25523096T>G" "" "" "" "DNMT3A(NM_001320892.1):c.89A>C (p.(Glu30Ala)), DNMT3A(NM_175629.2):c.89A>C (p.E30A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25300227T>G" "" "likely benign" "" "0000326894" "0" "50" "2" "25457242" "25457242" "subst" "0" "01804" "DNMT3A_000023" "g.25457242C>T" "" "" "" "DNMT3A(NM_022552.4):c.2645G>A (p.(Arg882His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25234373C>T" "" "VUS" "" "0000326895" "0" "70" "2" "25457261" "25457264" "dup" "0" "01804" "DNMT3A_000025" "g.25457261_25457264dup" "" "" "" "DNMT3A(NM_175629.2):c.2628_2629insTGAC (p.(Val877Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25234392_25234395dup" "" "likely pathogenic" "" "0000326896" "0" "50" "2" "25464538" "25464539" "dup" "0" "01804" "DNMT3A_000026" "g.25464538_25464539dup" "" "" "" "DNMT3A(NM_175629.2):c.1975_1976insCC (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25241669_25241670dup" "" "VUS" "" "0000326897" "0" "50" "2" "25469162" "25469162" "subst" "0" "01804" "DNMT3A_000027" "g.25469162G>C" "" "" "" "DNMT3A(NM_175629.2):c.1296C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25246293G>C" "" "VUS" "" "0000326899" "0" "50" "2" "25523096" "25523096" "subst" "0.0033057" "01804" "DNMT3A_000030" "g.25523096T>G" "" "" "" "DNMT3A(NM_001320892.1):c.89A>C (p.(Glu30Ala)), DNMT3A(NM_175629.2):c.89A>C (p.E30A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25300227T>G" "" "VUS" "" "0000343220" "0" "50" "2" "25464537" "25464537" "subst" "8.13928E-6" "02327" "DNMT3A_000038" "g.25464537C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25241668C>T" "" "VUS" "" "0000343268" "0" "70" "2" "25464450" "25464450" "subst" "0" "02327" "DNMT3A_000037" "g.25464450C>T" "" "" "" "DNMT3A(NM_022552.4):c.2063G>A (p.(Arg688His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25241581C>T" "" "likely pathogenic" "" "0000343320" "0" "70" "2" "25463286" "25463286" "subst" "0" "02327" "DNMT3A_000034" "g.25463286C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25240417C>G" "" "likely pathogenic" "" "0000343332" "0" "70" "2" "25463248" "25463248" "subst" "0" "02327" "DNMT3A_000011" "g.25463248G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25240379G>A" "" "likely pathogenic" "" "0000344982" "0" "90" "2" "25459837" "25459837" "subst" "0" "02327" "DNMT3A_000031" "g.25459837G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25236968G>A" "" "pathogenic" "" "0000346681" "0" "70" "2" "25470546" "25470546" "subst" "4.06392E-6" "02327" "DNMT3A_000039" "g.25470546T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25247677T>A" "" "likely pathogenic" "" "0000347902" "0" "90" "2" "25462006" "25462006" "subst" "1.62524E-5" "02327" "DNMT3A_000032" "g.25462006T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25239137T>C" "" "pathogenic" "" "0000349763" "0" "90" "2" "25470584" "25470584" "subst" "0" "02327" "DNMT3A_000040" "g.25470584C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25247715C>T" "" "pathogenic" "" "0000349854" "0" "50" "2" "25462023" "25462023" "subst" "0" "02327" "DNMT3A_000033" "g.25462023C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25239154C>T" "" "VUS" "" "0000350186" "0" "70" "2" "25463289" "25463289" "subst" "4.50683E-5" "02327" "DNMT3A_000035" "g.25463289T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25240420T>C" "" "likely pathogenic" "" "0000465656" "0" "70" "2" "25463541" "25463541" "subst" "0" "03224" "DNMT3A_000041" "g.25463541G>C" "" "" "" "" "" "Somatic" "" "" "0" "" "" "g.25240672G>C" "" "likely pathogenic" "" "0000474869" "0" "70" "2" "25463247" "25463248" "del" "0" "00762" "DNMT3A_000042" "g.25463247_25463248del" "" "" "" "" "" "Germline" "-" "" "0" "" "" "g.25240378_25240379del" "" "likely pathogenic" "" "0000474872" "0" "70" "2" "25467407" "25467407" "subst" "0" "00762" "DNMT3A_000047" "g.25467407A>C" "" "" "" "" "variant not possible" "Germline" "?" "" "0" "" "" "g.25244538A>C" "" "likely pathogenic" "" "0000474876" "0" "70" "2" "25463284" "25463284" "subst" "0" "00762" "DNMT3A_000043" "g.25463284G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.25240415G>A" "" "likely pathogenic" "" "0000474878" "0" "50" "2" "25463286" "25463286" "subst" "0" "00762" "DNMT3A_000046" "g.25463286C>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.25240417C>T" "" "VUS" "" "0000474879" "0" "70" "2" "25467449" "25467449" "subst" "0" "00762" "DNMT3A_000045" "g.25467449C>T" "" "" "" "g.25463286" "" "Germline" "yes" "" "0" "" "" "g.25244580C>T" "" "likely pathogenic" "" "0000474880" "0" "90" "2" "25467194" "25467194" "subst" "0" "00762" "DNMT3A_000044" "g.25467194C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.25244325C>A" "" "pathogenic" "" "0000499834" "0" "70" "2" "25470555" "25470555" "subst" "0" "00762" "DNMT3A_000048" "g.25470555G>A" "" "" "" "NM_175629.2:c.919C>T (Pro307Ser)" "" "De novo" "-" "" "0" "" "" "g.25247686G>A" "" "likely pathogenic" "" "0000515440" "0" "90" "2" "25457243" "25457243" "subst" "0.000126051" "01943" "DNMT3A_000001" "g.25457243G>A" "" "" "" "DNMT3A(NM_175629.2):c.2644C>T (p.R882C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25234374G>A" "" "pathogenic" "" "0000515442" "0" "70" "2" "25462005" "25462005" "subst" "0" "02327" "DNMT3A_000050" "g.25462005A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25239136A>G" "" "likely pathogenic" "" "0000515443" "0" "70" "2" "25467433" "25467433" "subst" "0" "02327" "DNMT3A_000051" "g.25467433A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25244564A>G" "" "likely pathogenic" "" "0000515445" "0" "70" "2" "25497908" "25497908" "subst" "0" "02327" "DNMT3A_000053" "g.25497908G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25275039G>A" "" "likely pathogenic" "" "0000607859" "0" "30" "2" "25466759" "25466759" "subst" "4.01881E-5" "01804" "DNMT3A_000056" "g.25466759C>T" "" "" "" "DNMT3A(NM_022552.4):c.1936+8G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25243890C>T" "" "likely benign" "" "0000607860" "0" "30" "2" "25469598" "25469598" "subst" "0.000256556" "01943" "DNMT3A_000057" "g.25469598G>A" "" "" "" "DNMT3A(NM_175629.2):c.1170C>T (p.S390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25246729G>A" "" "likely benign" "" "0000621009" "0" "70" "2" "25457218" "25457218" "subst" "4.0626E-6" "02325" "DNMT3A_000055" "g.25457218C>T" "" "" "" "DNMT3A(NM_175629.2):c.2669G>A (p.G890D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25234349C>T" "" "likely pathogenic" "" "0000621010" "0" "30" "2" "25536772" "25536772" "subst" "0.000994361" "01943" "DNMT3A_000058" "g.25536772C>T" "" "" "" "DNMT3A(NM_022552.5):c.72+10G>A, DNMT3A(NM_175629.2):c.72+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25313903C>T" "" "likely benign" "" "0000654610" "0" "50" "2" "25565298" "25565298" "subst" "0" "01943" "DNMT3A_000059" "g.25565298C>A" "" "" "" "DNMT3A(NM_175629.2):c.-178+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25342429C>A" "" "VUS" "" "0000665621" "0" "50" "2" "25467134" "25467134" "subst" "0" "03512" "DNMT3A_000060" "g.25467134A>G" "" "{PMID:Minardi 2020:32725632}" "" "" "mother wt" "Germline" "" "" "0" "" "" "g.25244265A>G" "" "VUS" "" "0000676593" "0" "50" "2" "25457247" "25457247" "dup" "0" "01804" "DNMT3A_000061" "g.25457247dup" "" "" "" "DNMT3A(NM_022552.4):c.2640dup (p.(Ser881GlufsTer40))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676594" "0" "90" "2" "25464439" "25464439" "subst" "0" "02327" "DNMT3A_000062" "g.25464439G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000676595" "0" "30" "2" "25469072" "25469072" "subst" "2.03181E-5" "01943" "DNMT3A_000063" "g.25469072C>T" "" "" "" "DNMT3A(NM_175629.2):c.1386G>A (p.A462=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676596" "0" "90" "2" "25469931" "25469931" "del" "0" "01943" "DNMT3A_000064" "g.25469931del" "" "" "" "DNMT3A(NM_175629.2):c.1111delG (p.E371Rfs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000676597" "0" "30" "2" "25470960" "25470960" "subst" "0.00248256" "02330" "DNMT3A_000029" "g.25470960G>A" "" "" "" "DNMT3A(NM_001320893.1):c.345C>T (p.(Ser115=)), DNMT3A(NM_022552.5):c.801C>T (p.S267=), DNMT3A(NM_175629.2):c.801C>T (p.S267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688723" "0" "10" "2" "25463531" "25463531" "subst" "0.000674172" "01804" "DNMT3A_000065" "g.25463531G>A" "" "" "" "DNMT3A(NM_001320893.1):c.1695C>T (p.(Asn565=)), DNMT3A(NM_022552.5):c.2151C>T (p.N717=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718699" "0" "70" "2" "25466799" "25466799" "subst" "0" "02327" "DNMT3A_000066" "g.25466799C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000718700" "0" "90" "2" "25467072" "25467072" "subst" "0" "02329" "DNMT3A_000067" "g.25467072C>T" "" "" "" "DNMT3A(NM_175629.2):c.1803G>A (p.W601*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000800539" "0" "70" "2" "25464451" "25464451" "subst" "0" "02329" "DNMT3A_000068" "g.25464451G>A" "" "" "" "DNMT3A(NM_175629.2):c.2062C>T (p.R688C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000849832" "0" "70" "2" "25457242" "25457242" "subst" "0" "02327" "DNMT3A_000023" "g.25457242C>T" "" "" "" "DNMT3A(NM_022552.4):c.2645G>A (p.(Arg882His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000849833" "0" "70" "2" "25469964" "25469966" "del" "0" "02327" "DNMT3A_000069" "g.25469964_25469966del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000858464" "0" "30" "2" "25470960" "25470960" "subst" "0.00248256" "01804" "DNMT3A_000029" "g.25470960G>A" "" "" "" "DNMT3A(NM_001320893.1):c.345C>T (p.(Ser115=)), DNMT3A(NM_022552.5):c.801C>T (p.S267=), DNMT3A(NM_175629.2):c.801C>T (p.S267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885099" "0" "70" "2" "25457243" "25457243" "subst" "0.000126051" "02327" "DNMT3A_000001" "g.25457243G>A" "" "" "" "DNMT3A(NM_175629.2):c.2644C>T (p.R882C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000885100" "0" "90" "2" "25457244" "25457247" "del" "0" "02325" "DNMT3A_000070" "g.25457244_25457247del" "" "" "" "DNMT3A(NM_175629.2):c.2640_2643delGAGC (p.M880Ifs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000885101" "0" "90" "2" "25457249" "25457252" "del" "0" "02325" "DNMT3A_000071" "g.25457249_25457252del" "" "" "" "DNMT3A(NM_175629.2):c.2635_2638delAACA (p.N879*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000885102" "0" "90" "2" "25463510" "25463511" "del" "0" "02325" "DNMT3A_000072" "g.25463510_25463511del" "" "" "" "DNMT3A(NM_175629.2):c.2171_2172delAC (p.Y724*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000911663" "0" "90" "2" "25467080" "25467080" "subst" "0" "02326" "DNMT3A_000073" "g.25467080C>A" "" "" "" "DNMT3A(NM_175629.2):c.1795G>T (p.E599*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000911664" "0" "90" "2" "25470492" "25470495" "dup" "0" "02329" "DNMT3A_000074" "g.25470492_25470495dup" "" "" "" "DNMT3A(NM_022552.5):c.980_983dupGGGT (p.M329Gfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000911665" "0" "70" "2" "25505331" "25505331" "subst" "0" "02327" "DNMT3A_000075" "g.25505331G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000923674" "0" "50" "2" "25470588" "25470588" "subst" "0" "02327" "DNMT3A_000076" "g.25470588C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927589" "0" "90" "2" "25458575" "25458575" "subst" "0" "04503" "DNMT3A_000077" "g.25458575C>T" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.25235706C>T" "" "pathogenic (dominant)" "ACMG" "0000927594" "0" "90" "2" "25463286" "25463286" "subst" "0" "04503" "DNMT3A_000046" "g.25463286C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.25240417C>T" "" "pathogenic (dominant)" "ACMG" "0000927595" "0" "90" "2" "25468195" "25468195" "subst" "0" "04503" "DNMT3A_000078" "g.25468195C>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.25245326C>G" "" "pathogenic (dominant)" "" "0000928578" "0" "90" "2" "25462023" "25462023" "subst" "0" "02327" "DNMT3A_000079" "g.25462023C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000928579" "0" "90" "2" "25463182" "25463182" "subst" "2.84359E-5" "02327" "DNMT3A_000080" "g.25463182G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000928580" "0" "50" "2" "25466854" "25466854" "subst" "0" "02327" "DNMT3A_000081" "g.25466854A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928581" "0" "70" "2" "25470008" "25470008" "del" "0" "02325" "DNMT3A_000082" "g.25470008del" "" "" "" "DNMT3A(NM_175629.2):c.1034delT (p.M345Sfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000936503" "0" "70" "2" "25457062" "25460491" "del" "0" "00006" "DNMT3A_000083" "g.25457062_25460491del" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.25234193_25237622del" "" "likely pathogenic" "" "0000947818" "0" "30" "2" "25505572" "25505572" "subst" "2.19619E-5" "01804" "DNMT3A_000084" "g.25505572G>A" "" "" "" "DNMT3A(NM_001320892.1):c.186C>T (p.(Ser62=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962042" "0" "30" "2" "25457235" "25457235" "subst" "0.000451051" "02330" "DNMT3A_000085" "g.25457235C>T" "" "" "" "DNMT3A(NM_022552.5):c.2652G>A (p.A884=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962043" "0" "30" "2" "25462076" "25462076" "subst" "6.91119E-5" "02330" "DNMT3A_000086" "g.25462076A>G" "" "" "" "DNMT3A(NM_022552.5):c.2331T>C (p.P777=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962044" "0" "30" "2" "25463531" "25463531" "subst" "0.000674172" "02330" "DNMT3A_000065" "g.25463531G>A" "" "" "" "DNMT3A(NM_001320893.1):c.1695C>T (p.(Asn565=)), DNMT3A(NM_022552.5):c.2151C>T (p.N717=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962045" "0" "30" "2" "25467489" "25467489" "subst" "8.53E-5" "02330" "DNMT3A_000087" "g.25467489G>A" "" "" "" "DNMT3A(NM_022552.5):c.1587C>T (p.D529=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962046" "0" "30" "2" "25469613" "25469613" "subst" "0.000158897" "02330" "DNMT3A_000088" "g.25469613C>T" "" "" "" "DNMT3A(NM_022552.5):c.1155G>A (p.P385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975163" "0" "30" "2" "25457229" "25457229" "subst" "0.000162518" "01804" "DNMT3A_000089" "g.25457229C>T" "" "" "" "DNMT3A(NM_022552.5):c.2658G>A (p.(Gln886=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975164" "0" "30" "2" "25459792" "25459792" "subst" "0.000315521" "02330" "DNMT3A_000090" "g.25459792C>T" "" "" "" "DNMT3A(NM_022552.5):c.2478+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975165" "0" "30" "2" "25467198" "25467198" "subst" "0.000367206" "02330" "DNMT3A_000091" "g.25467198G>A" "" "" "" "DNMT3A(NM_022552.5):c.1677C>T (p.C559=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975166" "0" "50" "2" "25467482" "25467482" "subst" "0" "02327" "DNMT3A_000006" "g.25467482C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975167" "0" "30" "2" "25467534" "25467534" "subst" "7.73603E-5" "02330" "DNMT3A_000092" "g.25467534G>A" "" "" "" "DNMT3A(NM_022552.5):c.1555-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975168" "0" "50" "2" "25469630" "25469630" "subst" "3.26928E-5" "02325" "DNMT3A_000093" "g.25469630C>T" "" "" "" "DNMT3A(NM_175629.2):c.1138G>A (p.A380T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975169" "0" "30" "2" "25469987" "25469987" "subst" "4.06521E-5" "02325" "DNMT3A_000094" "g.25469987C>T" "" "" "" "DNMT3A(NM_175629.2):c.1055G>A (p.S352N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975170" "0" "90" "2" "25470573" "25470573" "subst" "0" "02327" "DNMT3A_000095" "g.25470573G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000975171" "0" "50" "2" "25497896" "25497896" "subst" "0" "01804" "DNMT3A_000096" "g.25497896T>C" "" "" "" "DNMT3A(NM_022552.5):c.553A>G (p.(Met185Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975172" "0" "30" "2" "25505564" "25505564" "subst" "2.13737E-5" "01804" "DNMT3A_000097" "g.25505564G>A" "" "" "" "DNMT3A(NM_022552.5):c.194C>T (p.(Thr65Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975173" "0" "30" "2" "25523065" "25523065" "subst" "0.00246798" "02330" "DNMT3A_000098" "g.25523065C>T" "" "" "" "DNMT3A(NM_022552.5):c.120G>A (p.E40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000985743" "0" "90" "2" "25463248" "25463248" "subst" "0" "00006" "DNMT3A_000011" "g.25463248G>A" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "De novo" "" "" "0" "" "" "g.25240379G>A" "" "pathogenic (dominant)" "" "0000985744" "0" "90" "2" "25463541" "25463541" "subst" "0" "00006" "DNMT3A_000041" "g.25463541G>C" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "De novo" "" "" "0" "" "" "g.25240672G>C" "" "pathogenic (dominant)" "" "0000985745" "0" "90" "2" "25467072" "25467072" "subst" "0" "00006" "DNMT3A_000067" "g.25467072C>T" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "De novo" "" "" "0" "" "" "g.25244203C>T" "" "pathogenic (dominant)" "" "0000985746" "0" "90" "2" "25463241" "25463243" "del" "0" "00006" "DNMT3A_000100" "g.25463241_25463243del" "" "{PMID:Tatton-Brown 2017:28475857}" "" "2255_2257delTCT" "" "De novo" "" "" "0" "" "" "g.25240372_25240374del" "" "pathogenic (dominant)" "" "0000985747" "0" "90" "2" "25457212" "25457212" "subst" "0" "00006" "DNMT3A_000099" "g.25457212G>T" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "De novo" "" "" "0" "" "" "g.25234343G>T" "" "pathogenic (dominant)" "" "0000992758" "0" "50" "2" "25459818" "25459818" "subst" "0" "01804" "DNMT3A_000101" "g.25459818C>T" "" "" "" "DNMT3A(NM_022552.4):c.2465G>A (p.(Gly822Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992759" "0" "70" "2" "25459829" "25459829" "subst" "0" "01804" "DNMT3A_000102" "g.25459829A>C" "" "" "" "DNMT3A(NM_022552.4):c.2454T>G (p.(Cys818Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000992760" "0" "50" "2" "25463287" "25463287" "subst" "0" "01804" "DNMT3A_000103" "g.25463287G>A" "" "" "" "DNMT3A(NM_022552.4):c.2206C>T (p.(Arg736Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992761" "0" "70" "2" "25463509" "25463509" "subst" "0" "01804" "DNMT3A_000104" "g.25463509C>A" "" "" "" "DNMT3A(NM_022552.4):c.2173G>T (p.(Glu725*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000992762" "0" "50" "2" "25463524" "25463524" "subst" "0" "01804" "DNMT3A_000105" "g.25463524G>A" "" "" "" "DNMT3A(NM_022552.4):c.2158C>T (p.(Arg720Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992763" "0" "50" "2" "25464450" "25464450" "subst" "0" "01804" "DNMT3A_000037" "g.25464450C>T" "" "" "" "DNMT3A(NM_022552.4):c.2063G>A (p.(Arg688His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992764" "0" "70" "2" "25466796" "25466796" "subst" "0" "01804" "DNMT3A_000106" "g.25466796A>G" "" "" "" "DNMT3A(NM_022552.4):c.1907T>C (p.(Val636Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000992765" "0" "30" "2" "25468174" "25468174" "subst" "0.00031028" "02330" "DNMT3A_000107" "g.25468174T>C" "" "" "" "DNMT3A(NM_022552.4):c.1502A>G (p.(Asn501Ser)), DNMT3A(NM_022552.5):c.1502A>G (p.N501S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992766" "0" "30" "2" "25468174" "25468174" "subst" "0.00031028" "01804" "DNMT3A_000107" "g.25468174T>C" "" "" "" "DNMT3A(NM_022552.4):c.1502A>G (p.(Asn501Ser)), DNMT3A(NM_022552.5):c.1502A>G (p.N501S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992767" "0" "30" "2" "25468946" "25468946" "subst" "0.00123459" "02330" "DNMT3A_000108" "g.25468946G>A" "" "" "" "DNMT3A(NM_022552.5):c.1430-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992768" "0" "30" "2" "25469148" "25469148" "subst" "2.85955E-5" "01804" "DNMT3A_000109" "g.25469148G>A" "" "" "" "DNMT3A(NM_022552.4):c.1310C>T (p.(Thr437Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992769" "0" "50" "2" "25470503" "25470503" "subst" "0" "01804" "DNMT3A_000110" "g.25470503C>A" "" "" "" "DNMT3A(NM_022552.4):c.971G>T (p.(Gly324Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992770" "0" "30" "2" "25472524" "25472524" "subst" "0" "01804" "DNMT3A_000111" "g.25472524A>C" "" "" "" "DNMT3A(NM_153759.3):c.72+2T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992771" "0" "30" "2" "25472552" "25472552" "subst" "3.24852E-5" "01804" "DNMT3A_000112" "g.25472552G>A" "" "" "" "DNMT3A(NM_153759.3):c.46C>T (p.(Arg16Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992772" "0" "30" "2" "25497804" "25497804" "subst" "0.000205113" "02325" "DNMT3A_000113" "g.25497804C>T" "" "" "" "DNMT3A(NM_175629.2):c.639+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992773" "0" "30" "2" "25505549" "25505549" "subst" "2.8756E-5" "01804" "DNMT3A_000114" "g.25505549G>A" "" "" "" "DNMT3A(NM_022552.4):c.209C>T (p.(Ala70Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992774" "0" "50" "2" "25523013" "25523013" "subst" "0" "01804" "DNMT3A_000115" "g.25523013G>C" "" "" "" "DNMT3A(NM_022552.4):c.172C>G (p.(Pro58Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992775" "0" "30" "2" "25523079" "25523079" "subst" "0" "01804" "DNMT3A_000116" "g.25523079C>T" "" "" "" "DNMT3A(NM_022552.4):c.106G>A (p.(Glu36Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992776" "0" "30" "2" "25523110" "25523110" "subst" "4.61088E-5" "02330" "DNMT3A_000117" "g.25523110G>A" "" "" "" "DNMT3A(NM_022552.5):c.75C>T (p.D25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013705" "0" "30" "2" "25457190" "25457190" "subst" "0.000255975" "02330" "DNMT3A_000118" "g.25457190G>A" "" "" "" "DNMT3A(NM_022552.5):c.2697C>T (p.R899=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013706" "0" "90" "2" "25462086" "25462086" "subst" "4.07123E-6" "02326" "DNMT3A_000119" "g.25462086T>A" "" "" "" "DNMT3A(NM_175629.2):c.2323-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001013707" "0" "30" "2" "25470481" "25470481" "subst" "1.62608E-5" "02330" "DNMT3A_000120" "g.25470481G>A" "" "" "" "DNMT3A(NM_022552.5):c.993C>T (p.F331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013708" "0" "30" "2" "25474912" "25474912" "subst" "0" "02330" "DNMT3A_000121" "g.25474912C>T" "" "" "" "DNMT3A(NM_001320893.1):c.52G>A (p.G18R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013709" "0" "10" "2" "25536772" "25536772" "subst" "0.000994361" "02330" "DNMT3A_000058" "g.25536772C>T" "" "" "" "DNMT3A(NM_022552.5):c.72+10G>A, DNMT3A(NM_175629.2):c.72+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001024563" "0" "90" "2" "25464539" "25464539" "dup" "0" "02329" "DNMT3A_000122" "g.25464539dup" "" "" "" "DNMT3A(NM_022552.5):c.1975dupC (p.R659Pfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001024564" "0" "50" "2" "25470548" "25470548" "subst" "0" "02325" "DNMT3A_000123" "g.25470548C>T" "" "" "" "DNMT3A(NM_175629.2):c.926G>A (p.R309H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024565" "0" "50" "2" "25505421" "25505421" "subst" "2.85654E-5" "02330" "DNMT3A_000124" "g.25505421C>T" "" "" "" "DNMT3A(NM_022552.5):c.337G>A (p.G113R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033207" "0" "30" "2" "25468113" "25468113" "subst" "4.09883E-6" "01804" "DNMT3A_000125" "g.25468113T>C" "" "" "" "DNMT3A(NM_022552.5):c.1554+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033208" "0" "50" "2" "25470550" "25470550" "del" "0" "01804" "DNMT3A_000126" "g.25470550del" "" "" "" "DNMT3A(NM_022552.5):c.925del (p.(Arg309Alafs*7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033209" "0" "30" "2" "25471002" "25471002" "subst" "0.00175671" "01804" "DNMT3A_000127" "g.25471002G>A" "" "" "" "DNMT3A(NM_022552.5):c.759C>T (p.(Pro253=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033210" "0" "30" "2" "25505265" "25505265" "subst" "0" "01804" "DNMT3A_000128" "g.25505265T>C" "" "" "" "DNMT3A(NM_001320892.2):c.493A>G (p.(Ile165Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033211" "0" "30" "2" "25505588" "25505588" "subst" "0" "01804" "DNMT3A_000129" "g.25505588T>C" "" "" "" "DNMT3A(NM_022552.5):c.178-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033212" "0" "30" "2" "25523009" "25523009" "subst" "0" "01804" "DNMT3A_000130" "g.25523009G>A" "" "" "" "DNMT3A(NM_022552.5):c.176C>T (p.(Pro59Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033213" "0" "30" "2" "25523054" "25523054" "subst" "0.000102287" "01804" "DNMT3A_000131" "g.25523054G>A" "" "" "" "DNMT3A(NM_022552.5):c.131C>T (p.(Thr44Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033214" "0" "30" "2" "25523109" "25523109" "subst" "2.09412E-5" "01804" "DNMT3A_000132" "g.25523109C>T" "" "" "" "DNMT3A(NM_022552.5):c.76G>A (p.(Gly26Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033215" "0" "50" "2" "25536798" "25536798" "subst" "0" "01804" "DNMT3A_000133" "g.25536798C>T" "" "" "" "DNMT3A(NM_022552.5):c.56G>A (p.(Arg19Gln)), DNMT3A(NM_175629.2):c.56G>A (p.R19Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033216" "0" "50" "2" "25536798" "25536798" "subst" "0" "02325" "DNMT3A_000133" "g.25536798C>T" "" "" "" "DNMT3A(NM_022552.5):c.56G>A (p.(Arg19Gln)), DNMT3A(NM_175629.2):c.56G>A (p.R19Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047998" "0" "70" "2" "25470905" "25470905" "subst" "0" "03779" "DNMT3A_000134" "g.25470905C>T" "" "" "" "" "" "Unknown" "" "rs772041639" "0" "" "" "" "" "likely pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes DNMT3A ## Count = 153 "{{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}}" "0000164350" "00006605" "90" "889" "0" "891" "0" "c.889_891del" "r.(?)" "p.(Trp297del)" "8" "0000164351" "00006605" "90" "929" "0" "929" "0" "c.929T>A" "r.(?)" "p.(Ile310Asn)" "8" "0000164427" "00006605" "90" "934" "0" "937" "0" "c.934_937dup" "r.(?)" "p.(Trp313Phefs*12)" "8" "0000164428" "00006605" "90" "1594" "0" "1594" "0" "c.1594G>A" "r.(?)" "p.(Gly532Ser)" "14" "0000164429" "00006605" "90" "1643" "0" "1643" "0" "c.1643T>A" "r.(?)" "p.(Met548Lys)" "14" "0000164430" "00006605" "90" "1645" "0" "1645" "0" "c.1645T>C" "r.(?)" "p.(Cys549Arg)" "14" "0000164431" "00006605" "90" "1943" "0" "1943" "0" "c.1943T>C" "r.(?)" "p.(Leu648Pro)" "19" "0000164432" "00006605" "90" "2099" "0" "2099" "0" "c.2099C>T" "r.(?)" "p.(Pro700Leu)" "18" "0000164558" "00006605" "90" "2245" "0" "2245" "0" "c.2245C>T" "r.(?)" "p.(Arg749Cys)" "19" "0000164563" "00006605" "90" "2297" "0" "2297" "0" "c.2297dup" "r.(?)" "p.(Arg767Glufs*15)" "19" "0000164564" "00006605" "90" "2512" "0" "2512" "0" "c.2512A>G" "r.(?)" "p.(Asn838Asp)" "22" "0000164565" "00006605" "90" "2705" "0" "2705" "0" "c.2705T>C" "r.(?)" "p.(Phe902Ser)" "23" "0000164566" "00006605" "90" "2711" "0" "2711" "0" "c.2711C>T" "r.(?)" "p.(Pro904Leu)" "23" "0000164571" "00006605" "70" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320*)" "8" "0000164572" "00006605" "70" "1084" "0" "1084" "0" "c.1084C>T" "r.(?)" "p.(Gln362*)" "8" "0000164583" "00006605" "70" "1094" "0" "1094" "0" "c.1094A>G" "r.(?)" "p.(Tyr365Cys)" "8" "0000164584" "00006605" "70" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Asp529Asn)" "14" "0000164585" "00006605" "70" "2333" "0" "2333" "0" "c.2333T>G" "r.(?)" "p.(Val778Gly)" "20" "0000164587" "00006605" "90" "2644" "0" "2644" "0" "c.2644C>T" "r.(?)" "p.(Arg882Cys)" "23" "0000165296" "00006605" "90" "2644" "0" "2644" "0" "c.2644C>T" "r.(?)" "p.(Arg882Cys)" "23" "0000165299" "00006605" "90" "2312" "0" "2312" "0" "c.2312G>A" "r.(?)" "p.(Arg771Gln)" "19" "0000166203" "00006605" "90" "2312" "0" "2312" "0" "c.2312G>A" "r.(?)" "p.(Arg771Gln)" "19" "0000166210" "00006605" "90" "2312" "0" "2312" "0" "c.2312G>A" "r.(?)" "p.(Arg771Gln)" "19" "0000166213" "00006605" "90" "2312" "0" "2312" "0" "c.2312G>A" "r.(?)" "p.(Arg771Gln)" "19" "0000167126" "00006605" "90" "2296" "0" "2297" "0" "c.2296_2297del" "r.(?)" "p.(Lys766Glufs*15)" "19" "0000167127" "00006605" "90" "2296" "0" "2297" "0" "c.2296_2297del" "r.(?)" "p.(Lys766Glufs*15)" "19" "0000167145" "00006605" "90" "2645" "0" "2645" "0" "c.2645G>A" "r.(?)" "p.(Arg882His)" "23" "0000167154" "00006605" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_23_" "0000275443" "00006605" "30" "1275" "0" "1275" "0" "c.1275A>C" "r.(?)" "p.(Pro425=)" "" "0000275444" "00006605" "10" "2688" "0" "2688" "0" "c.2688A>G" "r.(?)" "p.(Pro896=)" "" "0000275445" "00006605" "30" "801" "0" "801" "0" "c.801C>T" "r.(?)" "p.(Ser267=)" "" "0000275446" "00006605" "30" "89" "0" "89" "0" "c.89A>C" "r.(?)" "p.(Glu30Ala)" "" "0000326894" "00006605" "50" "2645" "0" "2645" "0" "c.2645G>A" "r.(?)" "p.(Arg882His)" "" "0000326895" "00006605" "70" "2625" "0" "2628" "0" "c.2625_2628dup" "r.(?)" "p.(Val877Ter)" "" "0000326896" "00006605" "50" "1974" "0" "1975" "0" "c.1974_1975dup" "r.(?)" "p.(Arg659ProfsTer47)" "" "0000326897" "00006605" "50" "1296" "0" "1296" "0" "c.1296C>G" "r.(?)" "p.(Tyr432Ter)" "" "0000326899" "00006605" "50" "89" "0" "89" "0" "c.89A>C" "r.(?)" "p.(Glu30Ala)" "" "0000343220" "00006605" "50" "1976" "0" "1976" "0" "c.1976G>A" "r.(?)" "p.(Arg659His)" "" "0000343268" "00006605" "70" "2063" "0" "2063" "0" "c.2063G>A" "r.(?)" "p.(Arg688His)" "" "0000343320" "00006605" "70" "2207" "0" "2207" "0" "c.2207G>C" "r.(?)" "p.(Arg736Pro)" "" "0000343332" "00006605" "70" "2245" "0" "2245" "0" "c.2245C>T" "r.(?)" "p.(Arg749Cys)" "" "0000344982" "00006605" "90" "2446" "0" "2446" "0" "c.2446C>T" "r.(?)" "p.(Gln816Ter)" "" "0000346681" "00006605" "70" "928" "0" "928" "0" "c.928A>T" "r.(?)" "p.(Ile310Phe)" "" "0000347902" "00006605" "90" "2401" "0" "2401" "0" "c.2401A>G" "r.(?)" "p.(Met801Val)" "" "0000349763" "00006605" "90" "890" "0" "890" "0" "c.890G>A" "r.(?)" "p.(Trp297Ter)" "" "0000349854" "00006605" "50" "2384" "0" "2384" "0" "c.2384G>A" "r.(?)" "p.(Trp795Ter)" "" "0000350186" "00006605" "70" "2204" "0" "2204" "0" "c.2204A>G" "r.(?)" "p.(Tyr735Cys)" "" "0000465656" "00006605" "70" "2141" "0" "2141" "0" "c.2141C>G" "r.(?)" "p.(Ser714Cys)" "" "0000474869" "00006605" "70" "2246" "0" "2247" "0" "c.2246_2247del" "r.(2246_2247del)" "p.(Arg749Profs*7)" "19" "0000474872" "00006605" "70" "1667" "2" "1667" "2" "c.1667+2T>G" "r.spl" "p.?" "" "0000474876" "00006605" "70" "2209" "0" "2209" "0" "c.2209C>T" "r.(2209c>u)" "p.(Leu737Phe)" "19" "0000474878" "00006605" "50" "2207" "0" "2207" "0" "c.2207G>A" "r.(2207g>a)" "p.(Arg736His)" "19" "0000474879" "00006605" "70" "1627" "0" "1627" "0" "c.1627G>A" "r.(1627g>a)" "p.(Gly543Ser)" "14" "0000474880" "00006605" "90" "1681" "0" "1681" "0" "c.1681G>T" "r.(?)" "p.(Glu561*)" "15" "0000499834" "00006605" "70" "919" "0" "919" "0" "c.919C>T" "r.(?)" "p.(Pro307Ser)" "8" "0000515440" "00006605" "90" "2644" "0" "2644" "0" "c.2644C>T" "r.(?)" "p.(Arg882Cys)" "" "0000515442" "00006605" "70" "2402" "0" "2402" "0" "c.2402T>C" "r.(?)" "p.(Met801Thr)" "" "0000515443" "00006605" "70" "1643" "0" "1643" "0" "c.1643T>C" "r.(?)" "p.(Met548Thr)" "" "0000515445" "00006605" "70" "541" "0" "541" "0" "c.541C>T" "r.(?)" "p.(Arg181Cys)" "" "0000607859" "00006605" "30" "1936" "8" "1936" "8" "c.1936+8G>A" "r.(=)" "p.(=)" "" "0000607860" "00006605" "30" "1170" "0" "1170" "0" "c.1170C>T" "r.(?)" "p.(Ser390=)" "" "0000621009" "00006605" "70" "2669" "0" "2669" "0" "c.2669G>A" "r.(?)" "p.(Gly890Asp)" "" "0000621010" "00006605" "30" "72" "10" "72" "10" "c.72+10G>A" "r.(=)" "p.(=)" "" "0000654610" "00006605" "50" "-781" "0" "-781" "0" "c.-781G>T" "r.(?)" "p.(=)" "" "0000665621" "00006605" "50" "1741" "0" "1741" "0" "c.1741T>C" "r.(?)" "p.(Trp581Arg)" "" "0000676593" "00006605" "50" "2640" "0" "2640" "0" "c.2640dup" "r.(?)" "p.(Ser881GlufsTer40)" "" "0000676594" "00006605" "90" "2074" "0" "2074" "0" "c.2074C>T" "r.(?)" "p.(Gln692Ter)" "" "0000676595" "00006605" "30" "1386" "0" "1386" "0" "c.1386G>A" "r.(?)" "p.(Ala462=)" "" "0000676596" "00006605" "90" "1111" "0" "1111" "0" "c.1111del" "r.(?)" "p.(Glu371ArgfsTer36)" "" "0000676597" "00006605" "30" "801" "0" "801" "0" "c.801C>T" "r.(?)" "p.(Ser267=)" "" "0000688723" "00006605" "10" "2151" "0" "2151" "0" "c.2151C>T" "r.(?)" "p.(Asn717=)" "" "0000718699" "00006605" "70" "1904" "0" "1904" "0" "c.1904G>A" "r.(?)" "p.(Arg635Gln)" "" "0000718700" "00006605" "90" "1803" "0" "1803" "0" "c.1803G>A" "r.(?)" "p.(Trp601*)" "" "0000800539" "00006605" "70" "2062" "0" "2062" "0" "c.2062C>T" "r.(?)" "p.(Arg688Cys)" "" "0000849832" "00006605" "70" "2645" "0" "2645" "0" "c.2645G>A" "r.(?)" "p.(Arg882His)" "" "0000849833" "00006605" "70" "1080" "0" "1082" "0" "c.1080_1082del" "r.(?)" "p.(Asn360del)" "" "0000858464" "00006605" "30" "801" "0" "801" "0" "c.801C>T" "r.(?)" "p.(Ser267=)" "" "0000885099" "00006605" "70" "2644" "0" "2644" "0" "c.2644C>T" "r.(?)" "p.(Arg882Cys)" "" "0000885100" "00006605" "90" "2640" "0" "2643" "0" "c.2640_2643del" "r.(?)" "p.(Met880Ilefs*25)" "" "0000885101" "00006605" "90" "2635" "0" "2638" "0" "c.2635_2638del" "r.(?)" "p.(Asn879*)" "" "0000885102" "00006605" "90" "2171" "0" "2172" "0" "c.2171_2172del" "r.(?)" "p.(Tyr724*)" "" "0000911663" "00006605" "90" "1795" "0" "1795" "0" "c.1795G>T" "r.(?)" "p.(Glu599*)" "" "0000911664" "00006605" "90" "980" "0" "983" "0" "c.980_983dup" "r.(?)" "p.(Met329Glyfs*15)" "" "0000911665" "00006605" "70" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143*)" "" "0000923674" "00006605" "50" "886" "0" "886" "0" "c.886G>A" "r.(?)" "p.(Val296Met)" "" "0000927589" "00006605" "90" "2597" "1" "2597" "1" "c.2597+1G>A" "r.spl" "p.?" "" "0000927594" "00006605" "90" "2207" "0" "2207" "0" "c.2207G>A" "r.(?)" "p.(Arg736His)" "19" "0000927595" "00006605" "90" "1481" "0" "1481" "0" "c.1481G>C" "r.(?)" "p.(Cys494Ser)" "13" "0000928578" "00006605" "90" "2384" "0" "2384" "0" "c.2384G>C" "r.(?)" "p.(Trp795Ser)" "" "0000928579" "00006605" "90" "2311" "0" "2311" "0" "c.2311C>T" "r.(?)" "p.(Arg771*)" "" "0000928580" "00006605" "50" "1852" "-3" "1852" "-3" "c.1852-3T>G" "r.spl?" "p.?" "" "0000928581" "00006605" "70" "1034" "0" "1034" "0" "c.1034del" "r.(?)" "p.(Met345Serfs*3)" "" "0000936503" "00006605" "70" "2409" "-617" "2825" "0" "c.2409-617_*86del" "r.?" "p.?" "20i_23" "0000947818" "00006605" "30" "186" "0" "186" "0" "c.186C>T" "r.(?)" "p.(=)" "" "0000962042" "00006605" "30" "2652" "0" "2652" "0" "c.2652G>A" "r.(?)" "p.(=)" "" "0000962043" "00006605" "30" "2331" "0" "2331" "0" "c.2331T>C" "r.(?)" "p.(=)" "" "0000962044" "00006605" "30" "2151" "0" "2151" "0" "c.2151C>T" "r.(?)" "p.(Asn717=)" "" "0000962045" "00006605" "30" "1587" "0" "1587" "0" "c.1587C>T" "r.(?)" "p.(=)" "" "0000962046" "00006605" "30" "1155" "0" "1155" "0" "c.1155G>A" "r.(?)" "p.(=)" "" "0000975163" "00006605" "30" "2658" "0" "2658" "0" "c.2658G>A" "r.(?)" "p.(=)" "" "0000975164" "00006605" "30" "2478" "13" "2478" "13" "c.2478+13G>A" "r.(=)" "p.(=)" "" "0000975165" "00006605" "30" "1677" "0" "1677" "0" "c.1677C>T" "r.(?)" "p.(=)" "" "0000975166" "00006605" "50" "1594" "0" "1594" "0" "c.1594G>A" "r.(?)" "p.(Gly532Ser)" "" "0000975167" "00006605" "30" "1555" "-13" "1555" "-13" "c.1555-13C>T" "r.(=)" "p.(=)" "" "0000975168" "00006605" "50" "1138" "0" "1138" "0" "c.1138G>A" "r.(?)" "p.(Ala380Thr)" "" "0000975169" "00006605" "30" "1055" "0" "1055" "0" "c.1055G>A" "r.(?)" "p.(Ser352Asn)" "" "0000975170" "00006605" "90" "901" "0" "901" "0" "c.901C>T" "r.(?)" "p.(Arg301Trp)" "" "0000975171" "00006605" "50" "553" "0" "553" "0" "c.553A>G" "r.(?)" "p.(Met185Val)" "" "0000975172" "00006605" "30" "194" "0" "194" "0" "c.194C>T" "r.(?)" "p.(Thr65Met)" "" "0000975173" "00006605" "30" "120" "0" "120" "0" "c.120G>A" "r.(?)" "p.(=)" "" "0000985743" "00006605" "90" "2245" "0" "2245" "0" "c.2245C>T" "r.(?)" "p.(Arg749Cys)" "" "0000985744" "00006605" "90" "2141" "0" "2141" "0" "c.2141C>G" "r.(?)" "p.(Ser714Cys)" "" "0000985745" "00006605" "90" "1803" "0" "1803" "0" "c.1803G>A" "r.(?)" "p.(Trp601Ter)" "" "0000985746" "00006605" "90" "2255" "0" "2257" "0" "c.2255_2257del" "r.(?)" "p.(Phe752del)" "" "0000985747" "00006605" "90" "2675" "0" "2675" "0" "c.2675C>A" "r.(?)" "p.(Ser892Ter)" "" "0000992758" "00006605" "50" "2465" "0" "2465" "0" "c.2465G>A" "r.(?)" "p.(Gly822Asp)" "" "0000992759" "00006605" "70" "2454" "0" "2454" "0" "c.2454T>G" "r.(?)" "p.(Cys818Trp)" "" "0000992760" "00006605" "50" "2206" "0" "2206" "0" "c.2206C>T" "r.(?)" "p.(Arg736Cys)" "" "0000992761" "00006605" "70" "2173" "0" "2173" "0" "c.2173G>T" "r.(?)" "p.(Glu725*)" "" "0000992762" "00006605" "50" "2158" "0" "2158" "0" "c.2158C>T" "r.(?)" "p.(Arg720Cys)" "" "0000992763" "00006605" "50" "2063" "0" "2063" "0" "c.2063G>A" "r.(?)" "p.(Arg688His)" "" "0000992764" "00006605" "70" "1907" "0" "1907" "0" "c.1907T>C" "r.(?)" "p.(Val636Ala)" "" "0000992765" "00006605" "30" "1502" "0" "1502" "0" "c.1502A>G" "r.(?)" "p.(Asn501Ser)" "" "0000992766" "00006605" "30" "1502" "0" "1502" "0" "c.1502A>G" "r.(?)" "p.(Asn501Ser)" "" "0000992767" "00006605" "30" "1430" "-13" "1430" "-13" "c.1430-13C>T" "r.(=)" "p.(=)" "" "0000992768" "00006605" "30" "1310" "0" "1310" "0" "c.1310C>T" "r.(?)" "p.(Thr437Met)" "" "0000992769" "00006605" "50" "971" "0" "971" "0" "c.971G>T" "r.(?)" "p.(Gly324Val)" "" "0000992770" "00006605" "30" "640" "-1403" "640" "-1403" "c.640-1403T>G" "r.(=)" "p.(=)" "" "0000992771" "00006605" "30" "640" "-1431" "640" "-1431" "c.640-1431C>T" "r.(=)" "p.(=)" "" "0000992772" "00006605" "30" "639" "6" "639" "6" "c.639+6G>A" "r.(=)" "p.(=)" "" "0000992773" "00006605" "30" "209" "0" "209" "0" "c.209C>T" "r.(?)" "p.(Ala70Val)" "" "0000992774" "00006605" "50" "172" "0" "172" "0" "c.172C>G" "r.(?)" "p.(Pro58Ala)" "" "0000992775" "00006605" "30" "106" "0" "106" "0" "c.106G>A" "r.(?)" "p.(Glu36Lys)" "" "0000992776" "00006605" "30" "75" "0" "75" "0" "c.75C>T" "r.(?)" "p.(=)" "" "0001013705" "00006605" "30" "2697" "0" "2697" "0" "c.2697C>T" "r.(?)" "p.(=)" "" "0001013706" "00006605" "90" "2323" "-2" "2323" "-2" "c.2323-2A>T" "r.spl?" "p.?" "" "0001013707" "00006605" "30" "993" "0" "993" "0" "c.993C>T" "r.(?)" "p.(=)" "" "0001013708" "00006605" "30" "640" "-3791" "640" "-3791" "c.640-3791G>A" "r.(=)" "p.(=)" "" "0001013709" "00006605" "10" "72" "10" "72" "10" "c.72+10G>A" "r.(=)" "p.(=)" "" "0001024563" "00006605" "90" "1975" "0" "1975" "0" "c.1975dup" "r.(?)" "p.(Arg659Profs*9)" "" "0001024564" "00006605" "50" "926" "0" "926" "0" "c.926G>A" "r.(?)" "p.(Arg309His)" "" "0001024565" "00006605" "50" "337" "0" "337" "0" "c.337G>A" "r.(?)" "p.(Gly113Arg)" "" "0001033207" "00006605" "30" "1554" "9" "1554" "9" "c.1554+9A>G" "r.(=)" "p.(=)" "" "0001033208" "00006605" "50" "925" "0" "925" "0" "c.925del" "r.(?)" "p.(Arg309Alafs*7)" "" "0001033209" "00006605" "30" "759" "0" "759" "0" "c.759C>T" "r.(?)" "p.(=)" "" "0001033210" "00006605" "30" "448" "45" "448" "45" "c.448+45A>G" "r.(=)" "p.(=)" "" "0001033211" "00006605" "30" "178" "-8" "178" "-8" "c.178-8A>G" "r.(=)" "p.(=)" "" "0001033212" "00006605" "30" "176" "0" "176" "0" "c.176C>T" "r.(?)" "p.(Pro59Leu)" "" "0001033213" "00006605" "30" "131" "0" "131" "0" "c.131C>T" "r.(?)" "p.(Thr44Met)" "" "0001033214" "00006605" "30" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Gly26Arg)" "" "0001033215" "00006605" "50" "56" "0" "56" "0" "c.56G>A" "r.(?)" "p.(Arg19Gln)" "" "0001033216" "00006605" "50" "56" "0" "56" "0" "c.56G>A" "r.(?)" "p.(Arg19Gln)" "" "0001047998" "00006605" "70" "855" "1" "855" "1" "c.855+1G>A" "r.(?)" "p.(?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 46 "{{screeningid}}" "{{variantid}}" "0000101682" "0000164350" "0000101684" "0000164351" "0000101690" "0000164427" "0000101691" "0000164428" "0000101692" "0000164429" "0000101693" "0000164430" "0000101694" "0000164431" "0000101695" "0000164432" "0000101696" "0000164558" "0000101823" "0000164563" "0000101824" "0000164564" "0000101825" "0000164565" "0000101826" "0000164566" "0000101830" "0000164571" "0000101831" "0000164572" "0000101840" "0000164583" "0000101841" "0000164584" "0000101842" "0000164585" "0000101843" "0000165296" "0000101844" "0000164587" "0000101845" "0000165299" "0000103120" "0000166203" "0000103121" "0000166210" "0000103122" "0000166213" "0000103658" "0000167126" "0000103659" "0000167127" "0000103663" "0000167154" "0000103672" "0000167145" "0000227415" "0000465656" "0000232455" "0000474869" "0000232465" "0000474872" "0000232468" "0000474876" "0000232471" "0000474878" "0000232472" "0000474879" "0000232473" "0000474880" "0000246994" "0000499834" "0000302388" "0000665621" "0000436570" "0000927589" "0000436573" "0000927594" "0000436574" "0000927595" "0000440144" "0000936503" "0000451826" "0000985743" "0000451827" "0000985744" "0000451828" "0000985745" "0000451829" "0000985746" "0000451830" "0000985747"