### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ASXL3) # 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}}" "ASXL3" "additional sex combs like 3 (Drosophila)" "18" "q11" "unknown" "NC_000018.9" "UD_136085678302" "" "https://www.LOVD.nl/ASXL3" "" "1" "29357" "80816" "615115" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/ASXL3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-02-03 09:36:47" "00000" "2026-01-20 18:57:21" ## 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}}" "00003007" "ASXL3" "additional sex combs like 3 (Drosophila)" "001" "NM_030632.1" "" "NP_085135.1" "" "" "" "-55" "7587" "6747" "31158541" "31327399" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03963" "BRPS" "Bainbridge-Ropers syndrome (BRPS)" "AD" "615485" "" "" "" "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" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ASXL3" "03963" ## Individuals ## Do not remove or alter this header ## ## Count = 20 "{{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}}" "00150168" "" "" "" "1" "" "00006" "{PMID:Karaca 2015:26539891}" "2-generation family, 1 affected, unaffected carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "26539891-FamHOU2124PatBAB5481" "00288217" "" "" "" "1" "" "00006" "{PMID:Lee 2019:31607746}" "" "" "" "United States" "" "0" "" "" "" "Pat27" "00291948" "" "" "" "25" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00314869" "" "" "" "1" "" "00006" "{PMID:Zhu 2015:25590979}" "" "F" "" "United States" "" "0" "" "" "" "Trio32" "00320153" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00375648" "" "" "" "1" "" "00006" "{PMID:Srivastava 2014:25131622}" "" "" "" "United States" "" "0" "" "" "" "Pat31" "00386539" "" "" "" "1" "" "01164" "" "" "F" "?" "" "" "0" "" "" "" "186899" "00401295" "" "" "" "1" "" "02494" "" "" "M" "no" "Spain" "" "" "" "" "" "033P" "00401643" "" "" "" "1" "" "02494" "" "" "M" "no" "Spain" "" "" "" "" "" "217P" "00436301" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "" "F" "" "" "" "0" "" "" "" "Pat13" "00453443" "" "" "" "1" "" "03544" "{PMID:Wayhelova 2019:31180560" "2-generation family, 1 affected, unaffected non carrier parents" "F" "-" "Czech Republic" "" "0" "" "" "white" "patient" "00458248" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00467276" "" "" "" "1" "" "00006" "{PMID:Soden 2014:25473036}" "family, 1 affected" "" "" "United States" "" "0" "" "" "" "CMH079" "00468657" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00468658" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00468659" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00468660" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00468661" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00468662" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00468663" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00150168" "00198" "00288217" "00198" "00291948" "00198" "00314869" "00198" "00320153" "00198" "00375648" "00198" "00386539" "03963" "00401295" "03963" "00401643" "00139" "00436301" "00198" "00453443" "05162" "00458248" "05611" "00467276" "00198" "00468657" "00198" "00468658" "00198" "00468659" "00198" "00468660" "00198" "00468661" "00198" "00468662" "00198" "00468663" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 03963, 05162, 05611 ## Count = 17 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000122570" "00198" "00150168" "00006" "Familial, autosomal recessive" "" "microcephaly, cryptorchidism, inguinal hernia, developmental delay, seizures, intellectual disability, diffuse cortical atrophy, gastroesophageal reflux" "" "" "" "" "" "" "" "" "" "" "" "0000221954" "00198" "00288217" "00006" "Isolated (sporadic)" "2y" "decreased body weight, short stature, failure to thrive, relative macrocephaly, hypertelorism, bilateral ptosis, low-set, posteriorly rotated ears, petechiae, scalp hair loss, curly hair, brittle scalp hair, hypertonia, muscular hypotonia, increased laxity of fingers, global developmental delay, delayed gross motor development, periventricular leukomalacia, poor suck" "" "" "" "" "" "" "" "" "" "" "" "0000238627" "00198" "00314869" "00006" "Isolated (sporadic)" "11y" "Intellectual diability, microcephaly, mild to moderate hypotonia, hypermotoric." "4m" "" "" "" "" "" "" "" "" "" "" "0000242199" "00198" "00320153" "01807" "Unknown" "" "Ataxia (HP:0001251); Global developmental delay (HP:0001263); Motor delay (HP:0001270); Myoclonus (HP:0001336); Absent speech (HP:0001344)" "" "" "" "" "" "" "" "" "" "" "" "0000270861" "00198" "00375648" "00006" "Isolated (sporadic)" "" "intellectual disability/developmental delay; dysarthria; hypotonia; stereotyped behavior; MRI brain hypomyelination, cerebellar atrophy" "" "10y" "" "" "" "" "" "" "" "" "" "0000280340" "03963" "00386539" "01164" "Isolated (sporadic)" "10y" "Focal-onset seizure, Seizure, Intellectual disability, Autistic behavior" "" "" "" "" "" "" "" "" "" "" "" "0000326481" "00198" "00436301" "00006" "Unknown" "2y6m" "no synophrys; depressed nasal bridge, high palate; developmental delay, intellectual disability; gastroesophageal reflux; failure to thrive; weight <2nd, length 3rd, OFC <2nd; short stature; microcephaly; motor delay; speech delay; no autism spectrum disorder; no seizures; hypertonia; no hypotonia; no brachycephaly; no ptosis; no hypertelorism; no anteverted nares; depressed/broad nasal bridge; no bulbous nasal tip; no low-set ears; no microtia; no dysmorphic ears; no long/smooth philtrum; high arched palate; no thin upper lip; no downturned mouth; no cleft lip/palate; no widely spaced teeth; no late-erupting teeth; no micrognathia; no short neck; no hypoplastic nails; no hirsutism; no hairline; no cutis marmorata; no strabismus; no hearing loss; no low-pitched, growling cry in infancy; no congenital heart defect; no congenital diaphragmatic hernia; no pulmonary hypoplasia; no recurrent infections; no small nipples; gastroesophageal reflux; no structural anomalies renal tract; no scoliosis; no rib fusion; no vertebral anomalies; no limited elbow extension; no radioulnar abnormalities; no micromelia; no phocomelia; no brachydactyly; no fifth finger clinodactyly; no single transverse palmar crease; no 2-3 toe syndactyly; MRI brain cerebellar tonsillar ectopy, o/w normal; ECG patent foramen ovale vs atrial septal defect;, o/w normal" "" "" "" "" "" "" "" "" "cohesinopathy" "" "" "0000342107" "05162" "00453443" "03544" "Isolated (sporadic)" "" "HP:0001252, HP:0011968, HP:0001249, HP:0000252, HP:0001270, HP:0000271, HP:0000486, HP:0000174, HP:0001760, HP:0000750, HP:0000729" "" "" "" "" "" "" "" "" "BRPS" "" "" "0000346684" "05611" "00458248" "03544" "Isolated (sporadic)" "" "HP:0001513, HP:0032867, HP:0001256, HP:0001270, HP:0000248, HP:0007703, HP:0000855, HP:0007429, HP:0000956, HP:0410278" "" "" "" "" "" "" "" "" "BRPS" "complex neurodevelopmental disorder" "" "0000352483" "00198" "00467276" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Bainbridge-Ropers syndrome" "" "0000353810" "00198" "00468657" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" "0000353811" "00198" "00468658" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000353812" "00198" "00468659" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000353813" "00198" "00468660" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000353814" "00198" "00468661" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" "0000353815" "00198" "00468662" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" "0000353816" "00198" "00468663" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" ## Screenings ## Do not remove or alter this header ## ## Count = 20 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000151023" "00150168" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000289386" "00288217" "1" "00006" "00006" "2020-02-16 14:03:09" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood, fibroblast" "WES" "0000293116" "00291948" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000316043" "00314869" "1" "00006" "00006" "2020-10-20 15:09:17" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000321338" "00320153" "1" "01807" "01807" "2020-11-23 17:38:14" "" "" "SEQ" "DNA" "" "" "0000376845" "00375648" "1" "00006" "00006" "2021-06-14 20:30:20" "" "" "SEQ-NG" "DNA" "" "WES" "0000387767" "00386539" "1" "01164" "01164" "2021-10-25 10:04:57" "" "" "SEQ-NG-I" "DNA" "" "" "0000402539" "00401295" "1" "02494" "02494" "2022-01-31 09:59:07" "" "" "SEQ-NG" "DNA" "" "WES" "0000402886" "00401643" "1" "02494" "02494" "2022-02-01 11:11:14" "" "" "SEQ-NG" "DNA" "" "WES" "0000437784" "00436301" "1" "00006" "00006" "2023-08-31 23:02:18" "" "" "SEQ-NG" "DNA" "" "" "0000455057" "00453443" "1" "03544" "03544" "2024-08-29 07:07:38" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000459870" "00458248" "1" "03544" "03544" "2024-12-10 13:18:59" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000468939" "00467276" "1" "00006" "00006" "2025-10-10 16:20:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000470325" "00468657" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470326" "00468658" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470327" "00468659" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470328" "00468660" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470329" "00468661" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470330" "00468662" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470331" "00468663" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000151023" "ASXL3" "0000289386" "ASXL3" "0000316043" "ASXL3" "0000387767" "ASXL3" ## 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 = 163 "{{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}}" "0000244184" "3" "90" "18" "31322948" "31322948" "subst" "8.14432E-6" "00006" "ASXL3_000001" "g.31322948G>A" "" "{PMID:Karaca 2015:26539891}" "" "NM_030632: c.G3136A; p.G1046R" "" "Germline" "" "" "0" "" "" "g.33742984G>A" "" "pathogenic" "" "0000248844" "0" "10" "18" "31324934" "31324934" "subst" "0.592468" "02325" "ASXL3_000007" "g.31324934A>G" "" "" "" "ASXL3(NM_030632.3):c.5122A>G (p.M1708V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33744970A>G" "" "benign" "" "0000248874" "0" "10" "18" "31320229" "31320229" "subst" "0.601633" "02325" "ASXL3_000003" "g.31320229A>G" "" "" "" "ASXL3(NM_030632.3):c.2861A>G (p.N954S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33740265A>G" "" "benign" "" "0000253680" "0" "10" "18" "31319363" "31319363" "subst" "0.00130197" "01943" "ASXL3_000002" "g.31319363A>G" "" "" "" "ASXL3(NM_030632.2):c.1995A>G (p.R665=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33739399A>G" "" "benign" "" "0000259683" "0" "50" "18" "31323194" "31323194" "subst" "1.22036E-5" "02325" "ASXL3_000004" "g.31323194C>T" "" "" "" "ASXL3(NM_030632.3):c.3382C>T (p.R1128W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33743230C>T" "" "VUS" "" "0000263150" "0" "30" "18" "31323788" "31323788" "subst" "0" "01943" "ASXL3_000006" "g.31323788T>A" "" "" "" "ASXL3(NM_030632.2):c.3976T>A (p.S1326T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33743824T>A" "" "likely benign" "" "0000263151" "0" "50" "18" "31325858" "31325858" "subst" "8.34376E-6" "01943" "ASXL3_000008" "g.31325858C>T" "" "" "" "ASXL3(NM_030632.2):c.6046C>T (p.H2016Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33745894C>T" "" "VUS" "" "0000325869" "0" "50" "18" "31323641" "31323641" "del" "0" "01804" "ASXL3_000005" "g.31323641del" "" "" "" "ASXL3(NM_030632.1):c.3828del (p.(Cys1277ValfsTer3))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33743677del" "" "VUS" "" "0000341729" "0" "70" "18" "31323161" "31323161" "subst" "0" "02327" "ASXL3_000014" "g.31323161C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33743197C>T" "" "likely pathogenic" "" "0000341991" "0" "90" "18" "31324490" "31324490" "subst" "4.11086E-6" "02327" "ASXL3_000019" "g.31324490C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33744526C>T" "" "pathogenic" "" "0000344257" "0" "70" "18" "31323688" "31323688" "subst" "0" "02327" "ASXL3_000016" "g.31323688C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33743724C>A" "" "likely pathogenic" "" "0000344814" "0" "70" "18" "31318557" "31318557" "subst" "0" "02327" "ASXL3_000010" "g.31318557C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33738593C>T" "" "likely pathogenic" "" "0000345381" "0" "70" "18" "31318470" "31318470" "subst" "0" "02327" "ASXL3_000009" "g.31318470G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33738506G>T" "" "likely pathogenic" "" "0000347385" "0" "90" "18" "31323509" "31323509" "subst" "0" "02327" "ASXL3_000015" "g.31323509A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33743545A>T" "" "pathogenic" "" "0000564663" "0" "90" "18" "31224907" "31224907" "subst" "0" "02327" "ASXL3_000021" "g.31224907C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33644943C>T" "" "pathogenic" "" "0000564665" "0" "90" "18" "31318847" "31318848" "del" "0" "02329" "ASXL3_000022" "g.31318847_31318848del" "" "" "" "ASXL3(NM_030632.3):c.1479_1480delAC (p.P494Sfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33738883_33738884del" "" "pathogenic" "" "0000564666" "0" "90" "18" "31318927" "31318934" "del" "0" "02325" "ASXL3_000023" "g.31318927_31318934del" "" "" "" "ASXL3(NM_030632.3):c.1559_1566delAAGGGAAG (p.E520Vfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33738963_33738970del" "" "pathogenic" "" "0000564667" "0" "50" "18" "31319101" "31319101" "subst" "0.00012259" "01943" "ASXL3_000024" "g.31319101C>T" "" "" "" "ASXL3(NM_030632.2):c.1733C>T (p.S578F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33739137C>T" "" "VUS" "" "0000564668" "0" "90" "18" "31319409" "31319410" "ins" "0" "02325" "ASXL3_000025" "g.31319409_31319410insA" "" "" "" "ASXL3(NM_030632.3):c.2041_2042insA (p.S681Yfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33739445_33739446insA" "" "pathogenic" "" "0000564671" "0" "90" "18" "31322918" "31322918" "subst" "0" "01943" "ASXL3_000028" "g.31322918C>T" "" "" "" "ASXL3(NM_030632.2):c.3106C>T (p.R1036*), ASXL3(NM_030632.3):c.3106C>T (p.(Arg1036Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33742954C>T" "" "pathogenic" "" "0000564675" "0" "30" "18" "31323848" "31323848" "subst" "0.015473" "01804" "ASXL3_000031" "g.31323848A>G" "" "" "" "ASXL3(NM_030632.1):c.4036A>G (p.(Ile1346Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33743884A>G" "" "likely benign" "" "0000564676" "0" "30" "18" "31324054" "31324054" "subst" "0.000166535" "01943" "ASXL3_000032" "g.31324054A>C" "" "" "" "ASXL3(NM_030632.2):c.4242A>C (p.A1414=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33744090A>C" "" "likely benign" "" "0000564677" "0" "90" "18" "31324142" "31324142" "subst" "0" "01943" "ASXL3_000033" "g.31324142C>T" "" "" "" "ASXL3(NM_030632.1):c.4330C>T (p.(Arg1444Ter)), ASXL3(NM_030632.2):c.4330C>T (p.R1444*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33744178C>T" "" "pathogenic" "" "0000564680" "0" "90" "18" "31324415" "31324415" "dup" "0" "01943" "ASXL3_000036" "g.31324415dup" "" "" "" "ASXL3(NM_030632.2):c.4603dupC (p.H1535Pfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33744451dup" "" "pathogenic" "" "0000564681" "0" "90" "18" "31324706" "31324707" "del" "0" "01943" "ASXL3_000037" "g.31324706_31324707del" "" "" "" "ASXL3(NM_030632.2):c.4894_4895delGA (p.E1632Ifs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33744742_33744743del" "" "pathogenic" "" "0000564682" "0" "10" "18" "31324766" "31324766" "subst" "0.0175659" "01804" "ASXL3_000038" "g.31324766G>A" "" "" "" "ASXL3(NM_030632.1):c.4954G>A (p.(Val1652Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33744802G>A" "" "benign" "" "0000564683" "0" "30" "18" "31324814" "31324814" "subst" "0.000552396" "01804" "ASXL3_000039" "g.31324814G>A" "" "" "" "ASXL3(NM_030632.1):c.5002G>A (p.(Val1668Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33744850G>A" "" "likely benign" "" "0000564684" "0" "10" "18" "31324934" "31324934" "subst" "0.592468" "02327" "ASXL3_000007" "g.31324934A>G" "" "" "" "ASXL3(NM_030632.3):c.5122A>G (p.M1708V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33744970A>G" "" "benign" "" "0000564686" "0" "10" "18" "31325803" "31325803" "subst" "0.00171433" "01943" "ASXL3_000041" "g.31325803A>G" "" "" "" "ASXL3(NM_030632.2):c.5991A>G (p.K1997=), ASXL3(NM_030632.3):c.5991A>G (p.(Lys1997=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33745839A>G" "" "benign" "" "0000564687" "0" "30" "18" "31325865" "31325865" "subst" "6.80261E-5" "01804" "ASXL3_000042" "g.31325865C>T" "" "" "" "ASXL3(NM_030632.1):c.6053C>T (p.(Pro2018Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33745901C>T" "" "likely benign" "" "0000564689" "0" "30" "18" "31325884" "31325884" "del" "0.00227902" "01804" "ASXL3_000044" "g.31325884del" "" "" "" "ASXL3(NM_030632.1):c.6072delT (p.(Pro2026LeufsTer54))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33745920del" "" "likely benign" "" "0000564690" "0" "30" "18" "31325890" "31325914" "del" "1.12362E-5" "01804" "ASXL3_000045" "g.31325890_31325914del" "" "" "" "ASXL3(NM_030632.1):c.6078_6102del (p.(Leu2029HisfsTer43))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33745926_33745950del" "" "likely benign" "" "0000564691" "0" "30" "18" "31325923" "31325932" "del" "0" "01804" "ASXL3_000046" "g.31325923_31325932del" "" "" "" "ASXL3(NM_030632.1):c.6111_6120del (p.(Pro2038TyrfsTer39))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33745959_33745968del" "" "likely benign" "" "0000564693" "0" "70" "18" "31326254" "31326254" "subst" "0" "02327" "ASXL3_000048" "g.31326254C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33746290C>T" "" "likely pathogenic" "" "0000564694" "0" "50" "18" "31326536" "31326536" "subst" "0" "02327" "ASXL3_000049" "g.31326536G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33746572G>T" "" "VUS" "" "0000617096" "0" "30" "18" "31187657" "31187657" "subst" "0" "02326" "ASXL3_000050" "g.31187657A>G" "" "" "" "ASXL3(NM_030632.3):c.137+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33607693A>G" "" "likely benign" "" "0000617098" "0" "70" "18" "31319342" "31319352" "dup" "0" "02327" "ASXL3_000051" "g.31319342_31319352dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33739378_33739388dup" "" "likely pathogenic" "" "0000617100" "0" "50" "18" "31323256" "31323256" "del" "0" "02327" "ASXL3_000053" "g.31323256del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33743292del" "" "VUS" "" "0000617101" "0" "30" "18" "31323549" "31323549" "subst" "2.03734E-5" "01804" "ASXL3_000054" "g.31323549C>T" "" "" "" "ASXL3(NM_030632.1):c.3737C>T (p.(Ser1246Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33743585C>T" "" "likely benign" "" "0000617102" "0" "90" "18" "31324142" "31324142" "subst" "0" "01804" "ASXL3_000033" "g.31324142C>T" "" "" "" "ASXL3(NM_030632.1):c.4330C>T (p.(Arg1444Ter)), ASXL3(NM_030632.2):c.4330C>T (p.R1444*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33744178C>T" "" "pathogenic" "" "0000617103" "0" "50" "18" "31325238" "31325238" "subst" "5.28172E-5" "02327" "ASXL3_000055" "g.31325238G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33745274G>C" "" "VUS" "" "0000623841" "0" "70" "18" "31326009" "31326010" "del" "0" "02329" "ASXL3_000056" "g.31326009_31326010del" "" "" "" "ASXL3(NM_030632.3):c.6197_6198delGA (p.R2066Tfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33746045_33746046del" "" "likely pathogenic" "" "0000645315" "0" "90" "18" "31316163" "31321359" "del" "0" "00006" "ASXL3_000057" "g.31316163_31321359del" "" "{PMID:Lee 2019:31607746}" "" "" "" "De novo" "" "" "0" "" "" "g.33736199_33741395del" "{CV:000930572.1}" "pathogenic (dominant)" "" "0000649805" "1" "10" "18" "31326012" "31326012" "subst" "0.00673465" "03575" "ASXL3_000047" "g.31326012T>G" "25/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "25 heterozygous, no homozygous; {DB:CLININrs144534810}" "Germline" "" "rs144534810" "0" "" "" "g.33746048T>G" "" "benign" "" "0000658353" "0" "90" "18" "31324148" "31324149" "del" "0" "02327" "ASXL3_000034" "g.31324148_31324149del" "" "" "" "ASXL3(NM_030632.3):c.4336_4337delAG (p.R1446Gfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33744184_33744185del" "" "pathogenic" "" "0000658354" "0" "30" "18" "31324898" "31324898" "subst" "0" "01804" "ASXL3_000058" "g.31324898G>A" "" "" "" "ASXL3(NM_030632.1):c.5086G>A (p.(Ala1696Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33744934G>A" "" "likely benign" "" "0000681131" "0" "50" "18" "31251737" "31251737" "subst" "3.30368E-5" "01804" "ASXL3_000059" "g.31251737G>C" "" "" "" "ASXL3(NM_030632.1):c.622G>C (p.(Asp208His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681132" "0" "30" "18" "31319905" "31319905" "subst" "0.000853943" "01804" "ASXL3_000052" "g.31319905A>G" "" "" "" "ASXL3(NM_030632.1):c.2537A>G (p.(Lys846Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681134" "0" "50" "18" "31325708" "31325708" "subst" "0" "02327" "ASXL3_000061" "g.31325708C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681135" "0" "30" "18" "31326158" "31326158" "subst" "0.00173024" "01804" "ASXL3_000062" "g.31326158G>A" "" "" "" "ASXL3(NM_030632.1):c.6346G>A (p.(Ala2116Thr)), ASXL3(NM_030632.2):c.6346G>A (p.A2116T), ASXL3(NM_030632.3):c.6346G>A (p.A2116T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692581" "0" "30" "18" "31318613" "31318613" "subst" "0.000125971" "01804" "ASXL3_000063" "g.31318613G>T" "" "" "" "ASXL3(NM_030632.1):c.1245G>T (p.(Glu415Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692582" "0" "30" "18" "31323136" "31323136" "subst" "0.00653643" "01804" "ASXL3_000064" "g.31323136T>G" "" "" "" "ASXL3(NM_030632.1):c.3324T>G (p.(Ala1108=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000698169" "0" "90" "18" "31323965" "31323966" "del" "0" "00006" "ASXL3_000065" "g.31323965_31323966del" "" "{PMID:Zhu 2015:25590979}" "" "4152_4153del" "" "De novo" "" "" "0" "" "" "g.33744001_33744002del" "" "pathogenic (dominant)" "" "0000704167" "0" "70" "18" "31323533" "31323536" "dup" "0" "01807" "ASXL3_000066" "g.31323533_31323536dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.33743569_33743572dup" "" "likely pathogenic" "" "0000726863" "0" "30" "18" "31319954" "31319954" "subst" "0.000642428" "01943" "ASXL3_000067" "g.31319954A>G" "" "" "" "ASXL3(NM_030632.2):c.2586A>G (p.K862=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726864" "0" "30" "18" "31320169" "31320169" "subst" "0" "02327" "ASXL3_000068" "g.31320169T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726865" "0" "30" "18" "31322936" "31322936" "subst" "0.000142217" "01804" "ASXL3_000069" "g.31322936T>C" "" "" "" "ASXL3(NM_030632.1):c.3124T>C (p.(Ser1042Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726866" "0" "90" "18" "31324148" "31324149" "del" "0" "02329" "ASXL3_000034" "g.31324148_31324149del" "" "" "" "ASXL3(NM_030632.3):c.4336_4337delAG (p.R1446Gfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726867" "0" "90" "18" "31324215" "31324215" "subst" "0" "02329" "ASXL3_000035" "g.31324215C>G" "" "" "" "ASXL3(NM_030632.3):c.4403C>G (p.S1468*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726868" "0" "30" "18" "31324343" "31324343" "subst" "0.000228124" "01943" "ASXL3_000070" "g.31324343G>A" "" "" "" "ASXL3(NM_030632.2):c.4531G>A (p.V1511I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726869" "0" "30" "18" "31325010" "31325010" "subst" "0" "01804" "ASXL3_000071" "g.31325010C>T" "" "" "" "ASXL3(NM_030632.1):c.5198C>T (p.(Ala1733Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000788900" "0" "70" "18" "31319358" "31319358" "subst" "0" "00006" "ASXL3_000072" "g.31319358C>T" "" "{PMID:Srivastava 2014:25131622}" "" "" "" "De novo" "" "" "0" "" "" "g.33739394C>T" "" "likely pathogenic" "" "0000808461" "0" "70" "18" "31322996" "31322996" "subst" "0" "01943" "ASXL3_000073" "g.31322996C>T" "" "" "" "ASXL3(NM_030632.2):c.3184C>T (p.Q1062*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000808462" "0" "50" "18" "31323931" "31323933" "dup" "0" "02325" "ASXL3_000074" "g.31323931_31323933dup" "" "" "" "ASXL3(NM_030632.3):c.4119_4121dupGAT (p.K1373_I1374insM)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808463" "0" "30" "18" "31325525" "31325525" "subst" "0.000138087" "02325" "ASXL3_000075" "g.31325525A>G" "" "" "" "ASXL3(NM_030632.3):c.5713A>G (p.S1905G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808464" "0" "50" "18" "31326158" "31326158" "subst" "0.00173024" "01943" "ASXL3_000062" "g.31326158G>A" "" "" "" "ASXL3(NM_030632.1):c.6346G>A (p.(Ala2116Thr)), ASXL3(NM_030632.2):c.6346G>A (p.A2116T), ASXL3(NM_030632.3):c.6346G>A (p.A2116T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000815920" "0" "90" "18" "31324023" "31324024" "del" "0" "01164" "ASXL3_000076" "g.31324023_31324024del" "" "" "" "" "ACMG: PVS1, PS2, PM2_SUP" "De novo" "?" "" "0" "" "" "g.33744059_33744060del" "VCV000450046.4" "pathogenic (dominant)" "ACMG" "0000836768" "0" "70" "18" "31324211" "31324211" "subst" "0" "02494" "ASXL3_000077" "g.31324211C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.33744247C>T" "" "likely pathogenic (dominant)" "" "0000837165" "0" "70" "18" "31322918" "31322918" "subst" "0" "02494" "ASXL3_000028" "g.31322918C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000855263" "0" "90" "18" "31318450" "31318450" "subst" "0" "02327" "ASXL3_000080" "g.31318450G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000855264" "0" "30" "18" "31318484" "31318484" "subst" "0.00320416" "01943" "ASXL3_000081" "g.31318484C>T" "" "" "" "ASXL3(NM_030632.1):c.1116C>T (p.(Leu372=)), ASXL3(NM_030632.2):c.1116C>T (p.L372=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855265" "0" "30" "18" "31318959" "31318959" "subst" "0.000370401" "01804" "ASXL3_000082" "g.31318959A>G" "" "" "" "ASXL3(NM_030632.1):c.1591A>G (p.(Thr531Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855266" "0" "30" "18" "31319561" "31319561" "subst" "0.00104848" "01943" "ASXL3_000084" "g.31319561G>A" "" "" "" "ASXL3(NM_030632.2):c.2193G>A (p.V731=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855267" "0" "50" "18" "31320371" "31320371" "subst" "0" "02327" "ASXL3_000087" "g.31320371G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855268" "0" "30" "18" "31323203" "31323203" "subst" "0.00113086" "01943" "ASXL3_000029" "g.31323203C>T" "" "" "" "ASXL3(NM_030632.2):c.3391C>T (p.P1131S), ASXL3(NM_030632.3):c.3391C>T (p.(Pro1131Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855269" "0" "50" "18" "31323413" "31323413" "subst" "0" "02325" "ASXL3_000088" "g.31323413C>A" "" "" "" "ASXL3(NM_030632.3):c.3601C>A (p.H1201N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855270" "0" "50" "18" "31324002" "31324002" "subst" "4.06121E-6" "01943" "ASXL3_000089" "g.31324002G>A" "" "" "" "ASXL3(NM_030632.2):c.4190G>A (p.C1397Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865664" "0" "50" "18" "31250673" "31250673" "subst" "0.000236326" "01943" "ASXL3_000078" "g.31250673T>C" "" "" "" "ASXL3(NM_030632.2):c.514T>C (p.S172P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865665" "0" "90" "18" "31251809" "31251809" "subst" "4.1934E-6" "01943" "ASXL3_000079" "g.31251809C>T" "" "" "" "ASXL3(NM_030632.2):c.694C>T (p.R232*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000865666" "0" "30" "18" "31318484" "31318484" "subst" "0.00320416" "01804" "ASXL3_000081" "g.31318484C>T" "" "" "" "ASXL3(NM_030632.1):c.1116C>T (p.(Leu372=)), ASXL3(NM_030632.2):c.1116C>T (p.L372=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865667" "0" "90" "18" "31319136" "31319136" "del" "0" "02325" "ASXL3_000083" "g.31319136del" "" "" "" "ASXL3(NM_030632.3):c.1768delA (p.I590*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000865668" "0" "30" "18" "31319947" "31319947" "subst" "0.000447253" "01804" "ASXL3_000085" "g.31319947T>A" "" "" "" "ASXL3(NM_030632.1):c.2579T>A (p.(Met860Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865669" "0" "30" "18" "31320333" "31320333" "subst" "0.0011751" "01943" "ASXL3_000086" "g.31320333C>G" "" "" "" "ASXL3(NM_030632.1):c.2965C>G (p.(Arg989Gly)), ASXL3(NM_030632.2):c.2965C>G (p.R989G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865670" "0" "30" "18" "31324051" "31324051" "subst" "0.00706022" "01804" "ASXL3_000090" "g.31324051C>T" "" "" "" "ASXL3(NM_030632.1):c.4239C>T (p.(Val1413=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865671" "0" "30" "18" "31324056" "31324056" "subst" "0.00461838" "01804" "ASXL3_000091" "g.31324056T>G" "" "" "" "ASXL3(NM_030632.1):c.4244T>G (p.(Met1415Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865672" "0" "70" "18" "31325765" "31325766" "del" "0" "02327" "ASXL3_000092" "g.31325765_31325766del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000865673" "0" "30" "18" "31326158" "31326158" "subst" "0.00173024" "02325" "ASXL3_000062" "g.31326158G>A" "" "" "" "ASXL3(NM_030632.1):c.6346G>A (p.(Ala2116Thr)), ASXL3(NM_030632.2):c.6346G>A (p.A2116T), ASXL3(NM_030632.3):c.6346G>A (p.A2116T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894509" "0" "90" "18" "31324759" "31324759" "subst" "0" "02325" "ASXL3_000093" "g.31324759C>A" "" "" "" "ASXL3(NM_030632.3):c.4947C>A (p.Y1649*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000915044" "0" "50" "18" "31158605" "31158605" "subst" "0" "02327" "ASXL3_000094" "g.31158605A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915045" "0" "50" "18" "31323885" "31323885" "subst" "0" "02325" "ASXL3_000095" "g.31323885T>C" "" "" "" "ASXL3(NM_030632.1):c.4073T>C (p.(Val1358Ala)), ASXL3(NM_030632.3):c.4073T>C (p.V1358A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915046" "0" "70" "18" "31324922" "31324922" "subst" "0" "02327" "ASXL3_000096" "g.31324922C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000926725" "0" "50" "18" "31323027" "31323027" "subst" "0" "02325" "ASXL3_000097" "g.31323027C>T" "" "" "" "ASXL3(NM_030632.3):c.3215C>T (p.A1072V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926726" "0" "70" "18" "31326257" "31326257" "subst" "0" "01804" "ASXL3_000098" "g.31326257C>T" "" "" "" "ASXL3(NM_030632.1):c.6445C>T (p.(Gln2149*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000930950" "0" "50" "18" "31323096" "31323096" "subst" "0" "02325" "ASXL3_000099" "g.31323096A>T" "" "" "" "ASXL3(NM_030632.3):c.3284A>T (p.K1095M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000933202" "11" "70" "18" "31323137" "31323137" "subst" "0" "00006" "ASXL3_000100" "g.31323137A>T" "" "{PMID:Yuan 2019:30158690}" "" "" "" "Germline" "" "" "0" "" "" "g.33743173A>T" "" "VUS" "" "0000951120" "0" "30" "18" "31323276" "31323276" "subst" "2.03482E-5" "02325" "ASXL3_000101" "g.31323276C>T" "" "" "" "ASXL3(NM_030632.1):c.3464C>T (p.(Ser1155Leu)), ASXL3(NM_030632.3):c.3464C>T (p.S1155L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983015" "0" "50" "18" "31314334" "31314334" "subst" "8.24219E-6" "01804" "ASXL3_000103" "g.31314334C>T" "" "" "" "ASXL3(NM_030632.3):c.1037C>T (p.(Thr346Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983016" "0" "10" "18" "31319879" "31319879" "subst" "0.00648664" "01804" "ASXL3_000104" "g.31319879C>T" "" "" "" "ASXL3(NM_030632.3):c.2511C>T (p.(Thr837=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000983017" "0" "50" "18" "31320372" "31320372" "subst" "0" "01804" "ASXL3_000105" "g.31320372C>T" "" "" "" "ASXL3(NM_030632.3):c.3004C>T (p.(Pro1002Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983018" "0" "30" "18" "31323231" "31323231" "subst" "4.07087E-5" "01804" "ASXL3_000106" "g.31323231C>A" "" "" "" "ASXL3(NM_030632.3):c.3419C>A (p.(Pro1140Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983019" "0" "30" "18" "31324188" "31324188" "subst" "0" "01804" "ASXL3_000107" "g.31324188G>T" "" "" "" "ASXL3(NM_030632.3):c.4376G>T (p.(Gly1459Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983020" "0" "30" "18" "31324657" "31324657" "subst" "0.000112103" "01804" "ASXL3_000108" "g.31324657G>T" "" "" "" "ASXL3(NM_030632.1):c.4845G>T (p.(Arg1615Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983021" "0" "30" "18" "31324732" "31324732" "subst" "0.0012388" "01804" "ASXL3_000109" "g.31324732G>A" "" "" "" "ASXL3(NM_030632.3):c.4920G>A (p.(Lys1640=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983022" "0" "30" "18" "31325875" "31325875" "subst" "3.18052E-5" "01804" "ASXL3_000110" "g.31325875G>A" "" "" "" "ASXL3(NM_030632.3):c.6063G>A (p.(Pro2021=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983023" "0" "30" "18" "31325920" "31325920" "subst" "0.000149053" "01804" "ASXL3_000111" "g.31325920C>T" "" "" "" "ASXL3(NM_030632.3):c.6108C>T (p.(Pro2036=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000986021" "0" "90" "18" "31326066" "31326070" "del" "0" "03779" "ASXL3_000112" "g.31326066_31326070del" "" "" "" "" "" "CLASSIFICATION record" "" "rs1430690460" "0" "" "" "" "" "pathogenic" "" "0001004040" "0" "30" "18" "31241572" "31241572" "subst" "1.6988E-5" "01804" "ASXL3_000114" "g.31241572G>C" "" "" "" "ASXL3(NM_030632.1):c.356-8G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004041" "0" "50" "18" "31250724" "31250724" "subst" "0" "01804" "ASXL3_000115" "g.31250724G>A" "" "" "" "ASXL3(NM_030632.1):c.565G>A (p.(Val189Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004042" "0" "50" "18" "31251713" "31251713" "subst" "0" "01804" "ASXL3_000116" "g.31251713T>C" "" "" "" "ASXL3(NM_030632.1):c.598T>C (p.(Ser200Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004043" "0" "50" "18" "31251744" "31251744" "subst" "0" "01804" "ASXL3_000117" "g.31251744C>T" "" "" "" "ASXL3(NM_030632.1):c.629C>T (p.(Ser210Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004045" "0" "30" "18" "31318930" "31318930" "subst" "0" "01804" "ASXL3_000118" "g.31318930G>C" "" "" "" "ASXL3(NM_030632.1):c.1562G>C (p.(Gly521Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004046" "0" "30" "18" "31318971" "31318971" "subst" "2.85381E-5" "01804" "ASXL3_000119" "g.31318971G>A" "" "" "" "ASXL3(NM_030632.1):c.1603G>A (p.(Asp535Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004047" "0" "30" "18" "31319095" "31319095" "subst" "0" "01804" "ASXL3_000120" "g.31319095C>T" "" "" "" "ASXL3(NM_030632.1):c.1727C>T (p.(Ser576Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004048" "0" "30" "18" "31319286" "31319286" "subst" "0" "01804" "ASXL3_000121" "g.31319286T>C" "" "" "" "ASXL3(NM_030632.1):c.1918T>C (p.(Cys640Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004049" "0" "50" "18" "31319328" "31319328" "subst" "0" "01804" "ASXL3_000122" "g.31319328T>C" "" "" "" "ASXL3(NM_030632.1):c.1960T>C (p.(Ser654Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004050" "0" "30" "18" "31319521" "31319521" "subst" "1.62487E-5" "01804" "ASXL3_000123" "g.31319521C>T" "" "" "" "ASXL3(NM_030632.1):c.2153C>T (p.(Pro718Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004051" "0" "50" "18" "31319791" "31319791" "subst" "4.06785E-6" "01804" "ASXL3_000124" "g.31319791C>G" "" "" "" "ASXL3(NM_030632.1):c.2423C>G (p.(Pro808Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004052" "0" "30" "18" "31320333" "31320333" "subst" "0.0011751" "01804" "ASXL3_000086" "g.31320333C>G" "" "" "" "ASXL3(NM_030632.1):c.2965C>G (p.(Arg989Gly)), ASXL3(NM_030632.2):c.2965C>G (p.R989G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004053" "0" "30" "18" "31323128" "31323128" "subst" "0" "01804" "ASXL3_000125" "g.31323128A>T" "" "" "" "ASXL3(NM_030632.1):c.3316A>T (p.(Thr1106Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004054" "0" "50" "18" "31323276" "31323276" "subst" "2.03482E-5" "01804" "ASXL3_000101" "g.31323276C>T" "" "" "" "ASXL3(NM_030632.1):c.3464C>T (p.(Ser1155Leu)), ASXL3(NM_030632.3):c.3464C>T (p.S1155L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004055" "0" "30" "18" "31323741" "31323741" "subst" "0.00242882" "01804" "ASXL3_000126" "g.31323741A>C" "" "" "" "ASXL3(NM_030632.1):c.3929A>C (p.(Glu1310Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004056" "0" "30" "18" "31323749" "31323749" "subst" "3.24931E-5" "01804" "ASXL3_000127" "g.31323749A>C" "" "" "" "ASXL3(NM_030632.1):c.3937A>C (p.(Ser1313Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004057" "0" "50" "18" "31323758" "31323758" "subst" "0" "01804" "ASXL3_000128" "g.31323758A>G" "" "" "" "ASXL3(NM_030632.1):c.3946A>G (p.(Ser1316Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004058" "0" "30" "18" "31323885" "31323885" "subst" "0" "01804" "ASXL3_000095" "g.31323885T>C" "" "" "" "ASXL3(NM_030632.1):c.4073T>C (p.(Val1358Ala)), ASXL3(NM_030632.3):c.4073T>C (p.V1358A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004059" "0" "30" "18" "31324001" "31324001" "subst" "0" "01804" "ASXL3_000129" "g.31324001T>C" "" "" "" "ASXL3(NM_030632.1):c.4189T>C (p.(Cys1397Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004060" "0" "30" "18" "31324160" "31324160" "subst" "0" "01804" "ASXL3_000130" "g.31324160T>G" "" "" "" "ASXL3(NM_030632.1):c.4348T>G (p.(Ser1450Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004061" "0" "90" "18" "31324211" "31324211" "subst" "0" "02329" "ASXL3_000077" "g.31324211C>T" "" "" "" "ASXL3(NM_030632.3):c.4399C>T (p.R1467*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001004062" "0" "30" "18" "31324350" "31324350" "subst" "3.66414E-5" "01804" "ASXL3_000131" "g.31324350C>G" "" "" "" "ASXL3(NM_030632.1):c.4538C>G (p.(Pro1513Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004063" "0" "30" "18" "31324470" "31324470" "subst" "3.28402E-5" "01804" "ASXL3_000132" "g.31324470C>T" "" "" "" "ASXL3(NM_030632.1):c.4658C>T (p.(Pro1553Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004064" "0" "50" "18" "31324536" "31324536" "subst" "0" "02325" "ASXL3_000133" "g.31324536C>G" "" "" "" "ASXL3(NM_030632.3):c.4724C>G (p.P1575R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004065" "0" "30" "18" "31325564" "31325564" "subst" "2.03107E-5" "01804" "ASXL3_000134" "g.31325564G>A" "" "" "" "ASXL3(NM_030632.1):c.5752G>A (p.(Gly1918Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004066" "0" "30" "18" "31325843" "31325843" "subst" "1.63229E-5" "01804" "ASXL3_000135" "g.31325843A>G" "" "" "" "ASXL3(NM_030632.1):c.6031A>G (p.(Asn2011Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004067" "0" "30" "18" "31325900" "31325900" "subst" "1.8694E-5" "01804" "ASXL3_000136" "g.31325900G>A" "" "" "" "ASXL3(NM_030632.1):c.6088G>A (p.(Ala2030Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004068" "0" "50" "18" "31326428" "31326428" "subst" "0" "01804" "ASXL3_000137" "g.31326428G>A" "" "" "" "ASXL3(NM_030632.1):c.6616G>A (p.(Ala2206Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007033" "0" "70" "18" "31320374" "31320374" "del" "0" "03544" "ASXL3_000113" "g.31320374del" "" "{PMID:Wayhelova 2019:31180560" "" "" "" "De novo" "-" "" "0" "" "" "g.33740410del" "" "likely pathogenic" "ACMG" "0001015688" "0" "50" "18" "31325639" "31325639" "subst" "4.06445E-6" "02325" "ASXL3_000138" "g.31325639C>T" "" "" "" "ASXL3(NM_030632.3):c.5827C>T (p.P1943S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001018810" "0" "70" "18" "31312008" "31312008" "subst" "0" "03544" "ASXL3_000139" "g.31312008G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.33732044G>A" "{CV:3387771}" "likely pathogenic" "ACMG" "0001042406" "0" "30" "18" "31241711" "31241711" "subst" "7.87199E-5" "01804" "ASXL3_000140" "g.31241711C>T" "" "" "" "ASXL3(NM_030632.3):c.477+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042407" "0" "50" "18" "31250637" "31250637" "subst" "0" "01804" "ASXL3_000141" "g.31250637G>T" "" "" "" "ASXL3(NM_030632.3):c.478G>T (p.(Ala160Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042408" "0" "70" "18" "31319955" "31319961" "del" "0" "02327" "ASXL3_000142" "g.31319955_31319961del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001042409" "0" "30" "18" "31323277" "31323277" "subst" "0.000382434" "01804" "ASXL3_000143" "g.31323277G>A" "" "" "" "ASXL3(NM_030632.3):c.3465G>A (p.(Ser1155=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042410" "0" "50" "18" "31324298" "31324298" "subst" "0" "01804" "ASXL3_000144" "g.31324298G>A" "" "" "" "ASXL3(NM_030632.3):c.4486G>A (p.(Ala1496Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042411" "0" "30" "18" "31325803" "31325803" "subst" "0.00171433" "01804" "ASXL3_000041" "g.31325803A>G" "" "" "" "ASXL3(NM_030632.2):c.5991A>G (p.K1997=), ASXL3(NM_030632.3):c.5991A>G (p.(Lys1997=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046694" "0" "30" "18" "31241711" "31241711" "subst" "7.87199E-5" "02326" "ASXL3_000140" "g.31241711C>T" "" "" "" "ASXL3(NM_030632.3):c.477+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001049033" "0" "90" "18" "31319265" "31319266" "del" "0" "00006" "ASXL3_000145" "g.31319265_31319266del" "" "{PMID:Soden 2014:25473036}" "" "ref?:c.1897_1898delCA" "" "De novo" "" "" "0" "" "" "g.33739301_33739302del" "" "pathogenic (dominant)" "" "0001049501" "0" "70" "18" "31226308" "31226308" "subst" "0" "03779" "ASXL3_000146" "g.31226308G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001056307" "0" "30" "18" "31250631" "31250631" "subst" "6.09352E-5" "01804" "ASXL3_000147" "g.31250631T>C" "" "" "" "ASXL3(NM_030632.3):c.478-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056308" "0" "50" "18" "31314340" "31314340" "subst" "0" "01804" "ASXL3_000148" "g.31314340C>T" "" "" "" "ASXL3(NM_030632.3):c.1043C>T (p.(Pro348Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056309" "0" "30" "18" "31319675" "31319675" "subst" "0.00480452" "01804" "ASXL3_000149" "g.31319675A>G" "" "" "" "ASXL3(NM_030632.3):c.2307A>G (p.(Arg769=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056310" "0" "10" "18" "31319825" "31319825" "subst" "0.00399684" "01804" "ASXL3_000102" "g.31319825T>C" "" "" "" "ASXL3(NM_030632.3):c.2457T>C (p.(Ala819=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001056311" "0" "50" "18" "31320033" "31320033" "subst" "7.31814E-5" "01804" "ASXL3_000150" "g.31320033G>A" "" "" "" "ASXL3(NM_030632.3):c.2665G>A (p.(Gly889Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056313" "0" "90" "18" "31322918" "31322918" "subst" "0" "01804" "ASXL3_000028" "g.31322918C>T" "" "" "" "ASXL3(NM_030632.2):c.3106C>T (p.R1036*), ASXL3(NM_030632.3):c.3106C>T (p.(Arg1036Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001056314" "0" "30" "18" "31323203" "31323203" "subst" "0.00113086" "01804" "ASXL3_000029" "g.31323203C>T" "" "" "" "ASXL3(NM_030632.2):c.3391C>T (p.P1131S), ASXL3(NM_030632.3):c.3391C>T (p.(Pro1131Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056315" "0" "30" "18" "31325329" "31325329" "subst" "8.12269E-6" "01804" "ASXL3_000152" "g.31325329T>G" "" "" "" "ASXL3(NM_030632.3):c.5517T>G (p.(Thr1839=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001058447" "0" "90" "18" "31318826" "31318826" "del" "0" "00006" "ASXL3_000154" "g.31318826del" "" "{PMID:Retterer 2016:26633542}" "" "1458delT" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.33738862del" "" "pathogenic" "" "0001058448" "0" "90" "18" "31318950" "31318950" "subst" "0" "00006" "ASXL3_000156" "g.31318950G>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.33738986G>T" "" "pathogenic" "" "0001058449" "0" "90" "18" "31318868" "31318868" "del" "0" "00006" "ASXL3_000155" "g.31318868del" "" "{PMID:Retterer 2016:26633542}" "" "1500delA" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.33738904del" "" "pathogenic" "" "0001058450" "0" "90" "18" "31323161" "31323161" "subst" "0" "00006" "ASXL3_000014" "g.31323161C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.33743197C>T" "" "pathogenic" "" "0001058451" "0" "90" "18" "31320408" "31320408" "subst" "0" "00006" "ASXL3_000157" "g.31320408G>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.33740444G>T" "" "pathogenic" "" "0001058452" "0" "70" "18" "31319358" "31319358" "subst" "0" "00006" "ASXL3_000072" "g.31319358C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.33739394C>T" "" "likely pathogenic" "" "0001058453" "0" "70" "18" "31318816" "31318816" "dup" "0" "00006" "ASXL3_000153" "g.31318816dup" "" "{PMID:Retterer 2016:26633542}" "" "1448dupT" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.33738852dup" "" "likely pathogenic" "" "0001066967" "0" "50" "18" "31320165" "31320165" "subst" "8.14346E-6" "02325" "ASXL3_000158" "g.31320165C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066968" "0" "50" "18" "31323661" "31323661" "subst" "8.12777E-6" "02325" "ASXL3_000159" "g.31323661A>T" "" "" "" "" "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 ASXL3 ## Count = 163 "{{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}}" "0000244184" "00003007" "90" "3136" "0" "3136" "0" "c.3136G>A" "r.(?)" "p.(Gly1046Arg)" "" "0000248844" "00003007" "10" "5122" "0" "5122" "0" "c.5122A>G" "r.(?)" "p.(Met1708Val)" "" "0000248874" "00003007" "10" "2861" "0" "2861" "0" "c.2861A>G" "r.(?)" "p.(Asn954Ser)" "" "0000253680" "00003007" "10" "1995" "0" "1995" "0" "c.1995A>G" "r.(?)" "p.(Arg665=)" "" "0000259683" "00003007" "50" "3382" "0" "3382" "0" "c.3382C>T" "r.(?)" "p.(Arg1128Trp)" "" "0000263150" "00003007" "30" "3976" "0" "3976" "0" "c.3976T>A" "r.(?)" "p.(Ser1326Thr)" "" "0000263151" "00003007" "50" "6046" "0" "6046" "0" "c.6046C>T" "r.(?)" "p.(His2016Tyr)" "" "0000325869" "00003007" "50" "3829" "0" "3829" "0" "c.3829del" "r.(?)" "p.(Cys1277ValfsTer3)" "" "0000341729" "00003007" "70" "3349" "0" "3349" "0" "c.3349C>T" "r.(?)" "p.(Arg1117Ter)" "" "0000341991" "00003007" "90" "4678" "0" "4678" "0" "c.4678C>T" "r.(?)" "p.(Arg1560Ter)" "" "0000344257" "00003007" "70" "3876" "0" "3876" "0" "c.3876C>A" "r.(?)" "p.(Cys1292Ter)" "" "0000344814" "00003007" "70" "1189" "0" "1189" "0" "c.1189C>T" "r.(?)" "p.(Gln397Ter)" "" "0000345381" "00003007" "70" "1102" "0" "1102" "0" "c.1102G>T" "r.(?)" "p.(Glu368Ter)" "" "0000347385" "00003007" "90" "3697" "0" "3697" "0" "c.3697A>T" "r.(?)" "p.(Lys1233Ter)" "" "0000564663" "00003007" "90" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Arg63Ter)" "" "0000564665" "00003007" "90" "1479" "0" "1480" "0" "c.1479_1480del" "r.(?)" "p.(Pro494SerfsTer2)" "" "0000564666" "00003007" "90" "1559" "0" "1566" "0" "c.1559_1566del" "r.(?)" "p.(Glu520ValfsTer19)" "" "0000564667" "00003007" "50" "1733" "0" "1733" "0" "c.1733C>T" "r.(?)" "p.(Ser578Phe)" "" "0000564668" "00003007" "90" "2041" "0" "2042" "0" "c.2041_2042insA" "r.(?)" "p.(Ser681TyrfsTer8)" "" "0000564671" "00003007" "90" "3106" "0" "3106" "0" "c.3106C>T" "r.(?)" "p.(Arg1036Ter)" "" "0000564675" "00003007" "30" "4036" "0" "4036" "0" "c.4036A>G" "r.(?)" "p.(Ile1346Val)" "" "0000564676" "00003007" "30" "4242" "0" "4242" "0" "c.4242A>C" "r.(?)" "p.(Ala1414=)" "" "0000564677" "00003007" "90" "4330" "0" "4330" "0" "c.4330C>T" "r.(?)" "p.(Arg1444Ter)" "" "0000564680" "00003007" "90" "4603" "0" "4603" "0" "c.4603dup" "r.(?)" "p.(His1535ProfsTer16)" "" "0000564681" "00003007" "90" "4894" "0" "4895" "0" "c.4894_4895del" "r.(?)" "p.(Glu1632IlefsTer13)" "" "0000564682" "00003007" "10" "4954" "0" "4954" "0" "c.4954G>A" "r.(?)" "p.(Val1652Met)" "" "0000564683" "00003007" "30" "5002" "0" "5002" "0" "c.5002G>A" "r.(?)" "p.(Val1668Met)" "" "0000564684" "00003007" "10" "5122" "0" "5122" "0" "c.5122A>G" "r.(?)" "p.(Met1708Val)" "" "0000564686" "00003007" "10" "5991" "0" "5991" "0" "c.5991A>G" "r.(?)" "p.(Lys1997=)" "" "0000564687" "00003007" "30" "6053" "0" "6053" "0" "c.6053C>T" "r.(?)" "p.(Pro2018Leu)" "" "0000564689" "00003007" "30" "6072" "0" "6072" "0" "c.6072del" "r.(?)" "p.(Pro2026LeufsTer54)" "" "0000564690" "00003007" "30" "6078" "0" "6102" "0" "c.6078_6102del" "r.(?)" "p.(Leu2029HisfsTer43)" "" "0000564691" "00003007" "30" "6111" "0" "6120" "0" "c.6111_6120del" "r.(?)" "p.(Pro2038TyrfsTer39)" "" "0000564693" "00003007" "70" "6442" "0" "6442" "0" "c.6442C>T" "r.(?)" "p.(Gln2148Ter)" "" "0000564694" "00003007" "50" "6724" "0" "6724" "0" "c.6724G>T" "r.(?)" "p.(Val2242Leu)" "" "0000617096" "00003007" "30" "137" "17" "137" "17" "c.137+17A>G" "r.(=)" "p.(=)" "" "0000617098" "00003007" "70" "1974" "0" "1984" "0" "c.1974_1984dup" "r.(?)" "p.(Tyr662LeufsTer19)" "" "0000617100" "00003007" "50" "3444" "0" "3444" "0" "c.3444del" "r.(?)" "p.(Glu1149LysfsTer107)" "" "0000617101" "00003007" "30" "3737" "0" "3737" "0" "c.3737C>T" "r.(?)" "p.(Ser1246Leu)" "" "0000617102" "00003007" "90" "4330" "0" "4330" "0" "c.4330C>T" "r.(?)" "p.(Arg1444Ter)" "" "0000617103" "00003007" "50" "5426" "0" "5426" "0" "c.5426G>C" "r.(?)" "p.(Gly1809Ala)" "" "0000623841" "00003007" "70" "6197" "0" "6198" "0" "c.6197_6198del" "r.(?)" "p.(Arg2066ThrfsTer2)" "" "0000645315" "00003007" "90" "1082" "1784" "3039" "952" "c.1082+1784_3039+952del" "r.?" "p.?" "" "0000649805" "00003007" "10" "6200" "0" "6200" "0" "c.6200T>G" "r.(?)" "p.(Leu2067Arg)" "" "0000658353" "00003007" "90" "4336" "0" "4337" "0" "c.4336_4337del" "r.(?)" "p.(Arg1446GlyfsTer3)" "" "0000658354" "00003007" "30" "5086" "0" "5086" "0" "c.5086G>A" "r.(?)" "p.(Ala1696Thr)" "" "0000681131" "00003007" "50" "622" "0" "622" "0" "c.622G>C" "r.(?)" "p.(Asp208His)" "" "0000681132" "00003007" "30" "2537" "0" "2537" "0" "c.2537A>G" "r.(?)" "p.(Lys846Arg)" "" "0000681134" "00003007" "50" "5896" "0" "5896" "0" "c.5896C>T" "r.(?)" "p.(His1966Tyr)" "" "0000681135" "00003007" "30" "6346" "0" "6346" "0" "c.6346G>A" "r.(?)" "p.(Ala2116Thr)" "" "0000692581" "00003007" "30" "1245" "0" "1245" "0" "c.1245G>T" "r.(?)" "p.(Glu415Asp)" "" "0000692582" "00003007" "30" "3324" "0" "3324" "0" "c.3324T>G" "r.(?)" "p.(Ala1108=)" "" "0000698169" "00003007" "90" "4153" "0" "4154" "0" "c.4153_4154del" "r.(?)" "p.(Val1385Ilefs*14)" "" "0000704167" "00003007" "70" "3721" "0" "3724" "0" "c.3721_3724dup" "r.(?)" "p.(Ser1242Metfs*10)" "" "0000726863" "00003007" "30" "2586" "0" "2586" "0" "c.2586A>G" "r.(?)" "p.(Lys862=)" "" "0000726864" "00003007" "30" "2801" "0" "2801" "0" "c.2801T>G" "r.(?)" "p.(Leu934*)" "" "0000726865" "00003007" "30" "3124" "0" "3124" "0" "c.3124T>C" "r.(?)" "p.(Ser1042Pro)" "" "0000726866" "00003007" "90" "4336" "0" "4337" "0" "c.4336_4337del" "r.(?)" "p.(Arg1446GlyfsTer3)" "" "0000726867" "00003007" "90" "4403" "0" "4403" "0" "c.4403C>G" "r.(?)" "p.(Ser1468Ter)" "" "0000726868" "00003007" "30" "4531" "0" "4531" "0" "c.4531G>A" "r.(?)" "p.(Val1511Ile)" "" "0000726869" "00003007" "30" "5198" "0" "5198" "0" "c.5198C>T" "r.(?)" "p.(Ala1733Val)" "" "0000788900" "00003007" "70" "1990" "0" "1990" "0" "c.1990C>T" "r.(?)" "p.(Gln664Ter)" "" "0000808461" "00003007" "70" "3184" "0" "3184" "0" "c.3184C>T" "r.(?)" "p.(Gln1062*)" "" "0000808462" "00003007" "50" "4119" "0" "4121" "0" "c.4119_4121dup" "r.(?)" "p.(Lys1373_Ile1374insMet)" "" "0000808463" "00003007" "30" "5713" "0" "5713" "0" "c.5713A>G" "r.(?)" "p.(Ser1905Gly)" "" "0000808464" "00003007" "50" "6346" "0" "6346" "0" "c.6346G>A" "r.(?)" "p.(Ala2116Thr)" "" "0000815920" "00003007" "90" "4211" "0" "4212" "0" "c.4211_4212del" "r.(?)" "p.(Thr1404Argfs*23)" "" "0000836768" "00003007" "70" "4399" "0" "4399" "0" "c.4399C>T" "r.(?)" "p.(Arg1467*)" "" "0000837165" "00003007" "70" "3106" "0" "3106" "0" "c.3106C>T" "r.(?)" "p.(Arg1036*)" "" "0000855263" "00003007" "90" "1083" "-1" "1083" "-1" "c.1083-1G>A" "r.spl?" "p.?" "" "0000855264" "00003007" "30" "1116" "0" "1116" "0" "c.1116C>T" "r.(?)" "p.(Leu372=)" "" "0000855265" "00003007" "30" "1591" "0" "1591" "0" "c.1591A>G" "r.(?)" "p.(Thr531Ala)" "" "0000855266" "00003007" "30" "2193" "0" "2193" "0" "c.2193G>A" "r.(?)" "p.(Val731=)" "" "0000855267" "00003007" "50" "3003" "0" "3003" "0" "c.3003G>T" "r.(?)" "p.(Gln1001His)" "" "0000855268" "00003007" "30" "3391" "0" "3391" "0" "c.3391C>T" "r.(?)" "p.(Pro1131Ser)" "" "0000855269" "00003007" "50" "3601" "0" "3601" "0" "c.3601C>A" "r.(?)" "p.(His1201Asn)" "" "0000855270" "00003007" "50" "4190" "0" "4190" "0" "c.4190G>A" "r.(?)" "p.(Cys1397Tyr)" "" "0000865664" "00003007" "50" "514" "0" "514" "0" "c.514T>C" "r.(?)" "p.(Ser172Pro)" "" "0000865665" "00003007" "90" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Arg232*)" "" "0000865666" "00003007" "30" "1116" "0" "1116" "0" "c.1116C>T" "r.(?)" "p.(Leu372=)" "" "0000865667" "00003007" "90" "1768" "0" "1768" "0" "c.1768del" "r.(?)" "p.(Ile590*)" "" "0000865668" "00003007" "30" "2579" "0" "2579" "0" "c.2579T>A" "r.(?)" "p.(Met860Lys)" "" "0000865669" "00003007" "30" "2965" "0" "2965" "0" "c.2965C>G" "r.(?)" "p.(Arg989Gly)" "" "0000865670" "00003007" "30" "4239" "0" "4239" "0" "c.4239C>T" "r.(?)" "p.(Val1413=)" "" "0000865671" "00003007" "30" "4244" "0" "4244" "0" "c.4244T>G" "r.(?)" "p.(Met1415Arg)" "" "0000865672" "00003007" "70" "5953" "0" "5954" "0" "c.5953_5954del" "r.(?)" "p.(Arg1985Valfs*15)" "" "0000865673" "00003007" "30" "6346" "0" "6346" "0" "c.6346G>A" "r.(?)" "p.(Ala2116Thr)" "" "0000894509" "00003007" "90" "4947" "0" "4947" "0" "c.4947C>A" "r.(?)" "p.(Tyr1649*)" "" "0000915044" "00003007" "50" "10" "0" "10" "0" "c.10A>T" "r.(?)" "p.(Lys4*)" "" "0000915045" "00003007" "50" "4073" "0" "4073" "0" "c.4073T>C" "r.(?)" "p.(Val1358Ala)" "" "0000915046" "00003007" "70" "5110" "0" "5110" "0" "c.5110C>T" "r.(?)" "p.(Gln1704*)" "" "0000926725" "00003007" "50" "3215" "0" "3215" "0" "c.3215C>T" "r.(?)" "p.(Ala1072Val)" "" "0000926726" "00003007" "70" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Gln2149*)" "" "0000930950" "00003007" "50" "3284" "0" "3284" "0" "c.3284A>T" "r.(?)" "p.(Lys1095Met)" "" "0000933202" "00003007" "70" "3325" "0" "3325" "0" "c.3325A>T" "r.(?)" "p.(Lys1109*)" "" "0000951120" "00003007" "30" "3464" "0" "3464" "0" "c.3464C>T" "r.(?)" "p.(Ser1155Leu)" "" "0000983015" "00003007" "50" "1037" "0" "1037" "0" "c.1037C>T" "r.(?)" "p.(Thr346Ile)" "" "0000983016" "00003007" "10" "2511" "0" "2511" "0" "c.2511C>T" "r.(?)" "p.(=)" "" "0000983017" "00003007" "50" "3004" "0" "3004" "0" "c.3004C>T" "r.(?)" "p.(Pro1002Ser)" "" "0000983018" "00003007" "30" "3419" "0" "3419" "0" "c.3419C>A" "r.(?)" "p.(Pro1140Gln)" "" "0000983019" "00003007" "30" "4376" "0" "4376" "0" "c.4376G>T" "r.(?)" "p.(Gly1459Val)" "" "0000983020" "00003007" "30" "4845" "0" "4845" "0" "c.4845G>T" "r.(?)" "p.(Arg1615Ser)" "" "0000983021" "00003007" "30" "4920" "0" "4920" "0" "c.4920G>A" "r.(?)" "p.(=)" "" "0000983022" "00003007" "30" "6063" "0" "6063" "0" "c.6063G>A" "r.(?)" "p.(=)" "" "0000983023" "00003007" "30" "6108" "0" "6108" "0" "c.6108C>T" "r.(?)" "p.(=)" "" "0000986021" "00003007" "90" "6254" "0" "6258" "0" "c.6254_6258del" "r.(?)" "p.(Ser2085Ter)" "" "0001004040" "00003007" "30" "356" "-8" "356" "-8" "c.356-8G>C" "r.(=)" "p.(=)" "" "0001004041" "00003007" "50" "565" "0" "565" "0" "c.565G>A" "r.(?)" "p.(Val189Met)" "" "0001004042" "00003007" "50" "598" "0" "598" "0" "c.598T>C" "r.(?)" "p.(Ser200Pro)" "" "0001004043" "00003007" "50" "629" "0" "629" "0" "c.629C>T" "r.(?)" "p.(Ser210Leu)" "" "0001004045" "00003007" "30" "1562" "0" "1562" "0" "c.1562G>C" "r.(?)" "p.(Gly521Ala)" "" "0001004046" "00003007" "30" "1603" "0" "1603" "0" "c.1603G>A" "r.(?)" "p.(Asp535Asn)" "" "0001004047" "00003007" "30" "1727" "0" "1727" "0" "c.1727C>T" "r.(?)" "p.(Ser576Leu)" "" "0001004048" "00003007" "30" "1918" "0" "1918" "0" "c.1918T>C" "r.(?)" "p.(Cys640Arg)" "" "0001004049" "00003007" "50" "1960" "0" "1960" "0" "c.1960T>C" "r.(?)" "p.(Ser654Pro)" "" "0001004050" "00003007" "30" "2153" "0" "2153" "0" "c.2153C>T" "r.(?)" "p.(Pro718Leu)" "" "0001004051" "00003007" "50" "2423" "0" "2423" "0" "c.2423C>G" "r.(?)" "p.(Pro808Arg)" "" "0001004052" "00003007" "30" "2965" "0" "2965" "0" "c.2965C>G" "r.(?)" "p.(Arg989Gly)" "" "0001004053" "00003007" "30" "3316" "0" "3316" "0" "c.3316A>T" "r.(?)" "p.(Thr1106Ser)" "" "0001004054" "00003007" "50" "3464" "0" "3464" "0" "c.3464C>T" "r.(?)" "p.(Ser1155Leu)" "" "0001004055" "00003007" "30" "3929" "0" "3929" "0" "c.3929A>C" "r.(?)" "p.(Glu1310Ala)" "" "0001004056" "00003007" "30" "3937" "0" "3937" "0" "c.3937A>C" "r.(?)" "p.(Ser1313Arg)" "" "0001004057" "00003007" "50" "3946" "0" "3946" "0" "c.3946A>G" "r.(?)" "p.(Ser1316Gly)" "" "0001004058" "00003007" "30" "4073" "0" "4073" "0" "c.4073T>C" "r.(?)" "p.(Val1358Ala)" "" "0001004059" "00003007" "30" "4189" "0" "4189" "0" "c.4189T>C" "r.(?)" "p.(Cys1397Arg)" "" "0001004060" "00003007" "30" "4348" "0" "4348" "0" "c.4348T>G" "r.(?)" "p.(Ser1450Ala)" "" "0001004061" "00003007" "90" "4399" "0" "4399" "0" "c.4399C>T" "r.(?)" "p.(Arg1467*)" "" "0001004062" "00003007" "30" "4538" "0" "4538" "0" "c.4538C>G" "r.(?)" "p.(Pro1513Arg)" "" "0001004063" "00003007" "30" "4658" "0" "4658" "0" "c.4658C>T" "r.(?)" "p.(Pro1553Leu)" "" "0001004064" "00003007" "50" "4724" "0" "4724" "0" "c.4724C>G" "r.(?)" "p.(Pro1575Arg)" "" "0001004065" "00003007" "30" "5752" "0" "5752" "0" "c.5752G>A" "r.(?)" "p.(Gly1918Ser)" "" "0001004066" "00003007" "30" "6031" "0" "6031" "0" "c.6031A>G" "r.(?)" "p.(Asn2011Asp)" "" "0001004067" "00003007" "30" "6088" "0" "6088" "0" "c.6088G>A" "r.(?)" "p.(Ala2030Thr)" "" "0001004068" "00003007" "50" "6616" "0" "6616" "0" "c.6616G>A" "r.(?)" "p.(Ala2206Thr)" "" "0001007033" "00003007" "70" "3006" "0" "3006" "0" "c.3006del" "r.(?)" "p.(Arg1004Glufs*21)" "11" "0001015688" "00003007" "50" "5827" "0" "5827" "0" "c.5827C>T" "r.(?)" "p.(Pro1943Ser)" "" "0001018810" "00003007" "70" "956" "0" "956" "0" "c.956G>A" "r.(956G>A)" "p.(Trp319*)" "9" "0001042406" "00003007" "30" "477" "10" "477" "10" "c.477+10C>T" "r.(=)" "p.(=)" "" "0001042407" "00003007" "50" "478" "0" "478" "0" "c.478G>T" "r.(?)" "p.(Ala160Ser)" "" "0001042408" "00003007" "70" "2587" "0" "2593" "0" "c.2587_2593del" "r.(?)" "p.(Val863Ilefs*70)" "" "0001042409" "00003007" "30" "3465" "0" "3465" "0" "c.3465G>A" "r.(?)" "p.(=)" "" "0001042410" "00003007" "50" "4486" "0" "4486" "0" "c.4486G>A" "r.(?)" "p.(Ala1496Thr)" "" "0001042411" "00003007" "30" "5991" "0" "5991" "0" "c.5991A>G" "r.(?)" "p.(Lys1997=)" "" "0001046694" "00003007" "30" "477" "10" "477" "10" "c.477+10C>T" "r.(=)" "p.(=)" "" "0001049033" "00003007" "90" "1897" "0" "1898" "0" "c.1897_1898del" "r.(?)" "p.(Gln633ValfsTer13)" "" "0001049501" "00003007" "70" "346" "0" "346" "0" "c.346G>T" "r.(?)" "p.(Glu116Ter)" "" "0001056307" "00003007" "30" "478" "-6" "478" "-6" "c.478-6T>C" "r.(=)" "p.(=)" "" "0001056308" "00003007" "50" "1043" "0" "1043" "0" "c.1043C>T" "r.(?)" "p.(Pro348Leu)" "" "0001056309" "00003007" "30" "2307" "0" "2307" "0" "c.2307A>G" "r.(?)" "p.(=)" "" "0001056310" "00003007" "10" "2457" "0" "2457" "0" "c.2457T>C" "r.(?)" "p.(=)" "" "0001056311" "00003007" "50" "2665" "0" "2665" "0" "c.2665G>A" "r.(?)" "p.(Gly889Arg)" "" "0001056313" "00003007" "90" "3106" "0" "3106" "0" "c.3106C>T" "r.(?)" "p.(Arg1036Ter)" "" "0001056314" "00003007" "30" "3391" "0" "3391" "0" "c.3391C>T" "r.(?)" "p.(Pro1131Ser)" "" "0001056315" "00003007" "30" "5517" "0" "5517" "0" "c.5517T>G" "r.(?)" "p.(=)" "" "0001058447" "00003007" "90" "1458" "0" "1458" "0" "c.1458del" "r.(?)" "p.(His487MetfsTer6)" "" "0001058448" "00003007" "90" "1582" "0" "1582" "0" "c.1582G>T" "r.(?)" "p.(Glu528Ter)" "" "0001058449" "00003007" "90" "1500" "0" "1500" "0" "c.1500del" "r.(?)" "p.(Glu500AspfsTer5)" "" "0001058450" "00003007" "90" "3349" "0" "3349" "0" "c.3349C>T" "r.(?)" "p.(Arg1117Ter)" "" "0001058451" "00003007" "90" "3039" "1" "3039" "1" "c.3039+1G>T" "r.spl" "p.?" "" "0001058452" "00003007" "70" "1990" "0" "1990" "0" "c.1990C>T" "r.(?)" "p.(Gln664Ter)" "" "0001058453" "00003007" "70" "1448" "0" "1448" "0" "c.1448dup" "r.(?)" "p.(Thr484AsnfsTer5)" "" "0001066967" "00003007" "50" "2797" "0" "2797" "0" "c.2797C>T" "r.(?)" "p.(Arg933Trp)" "" "0001066968" "00003007" "50" "3849" "0" "3849" "0" "c.3849A>T" "r.(?)" "p.(Lys1283Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000151023" "0000244184" "0000289386" "0000645315" "0000293116" "0000649805" "0000316043" "0000698169" "0000321338" "0000704167" "0000376845" "0000788900" "0000387767" "0000815920" "0000402539" "0000836768" "0000402886" "0000837165" "0000437784" "0000933202" "0000455057" "0001007033" "0000459870" "0001018810" "0000468939" "0001049033" "0000470325" "0001058447" "0000470326" "0001058448" "0000470327" "0001058449" "0000470328" "0001058450" "0000470329" "0001058451" "0000470330" "0001058452" "0000470331" "0001058453"