### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ASXL2) # 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}}" "ASXL2" "additional sex combs like 2 (Drosophila)" "2" "p24.1" "unknown" "NC_000002.11" "UD_132438678941" "" "https://www.LOVD.nl/ASXL2" "" "1" "23805" "55252" "612991" "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/ASXL2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-02-08 10:35:37" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00003006" "ASXL2" "additional sex combs like 2 (Drosophila)" "001" "NM_018263.4" "" "NP_060733.4" "" "" "" "-221" "6953" "4308" "26101312" "25962253" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06463" "SHAPNS" "Shashi-Pena syndrome" "AD" "617190" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ASXL2" "06463" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00276035" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00314871" "" "" "" "1" "" "00006" "{PMID:Zhu 2015:25590979}" "" "M" "" "United States" "" "0" "" "" "" "Trio34" "00376349" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "180305" "00447992" "" "" "" "1" "" "00006" "{PMID:Ramocki 2003:12825074}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "patient" "00453054" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat10" "00453087" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat43" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00276035" "00198" "00314871" "00198" "00376349" "05611" "00447992" "00198" "00453054" "05611" "00453087" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05611, 06463 ## Count = 6 "{{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}}" "0000210591" "00198" "00276035" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Intellectual disability (HP:0001249); Microcephaly (HP:0000252); Obesity (HP:0001513)" "" "" "" "" "" "" "" "" "" "" "" "0000238629" "00198" "00314871" "00006" "Unknown" "7y" "Overgrowth, dysmorphic features, mild developmental delays, and macrocephaly." "1y6m" "" "" "" "" "" "" "" "" "" "" "0000289281" "05611" "00376349" "01164" "Unknown" "" "Abnormality of body height, Tall stature, Macrocephaly, Delayed speech and language development, Neurological speech impairment, Language impairment, Neurodevelopmental delay, Increased head circumference" "" "04y" "" "" "" "" "" "" "SHAPNS" "" "" "0000337181" "00198" "00447992" "00006" "Isolated (sporadic)" "" "see paper; ..., pregnancy complicated by gestational diabetes; complete agenesis corpus callosum, bilateral periventricular nodular heterotopia, bilateral chorioretinal, iris colobomas; frontal bossing, left ptosis, dysplastic left ear, hemangiomas right forehead, left knee and shoulder and right vulva, bilateral leukocoria, hearing loss, ventricular septal defects, vesicoureteral reflux, hyperreflexia all four extremities" "" "" "" "" "" "" "" "" "" "" "" "0000341699" "05611" "00453054" "00006" "Familial" "13y8m" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000341732" "05611" "00453087" "00006" "Unknown" "38y" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000277182" "00276035" "1" "01807" "01807" "2020-01-24 11:02:31" "" "" "SEQ" "DNA" "" "" "0000316045" "00314871" "1" "00006" "00006" "2020-10-20 15:09:17" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000377552" "00376349" "1" "01164" "01164" "2021-06-21 16:03:10" "" "" "SEQ-NG-I" "DNA" "" "" "0000449565" "00447992" "1" "00006" "00006" "2024-02-08 11:01:11" "" "" "microscope;PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000454665" "00453054" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000454698" "00453087" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG;SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000316045" "ASXL2" "0000316045" "IQSEC1" "0000377552" "ASXL2" ## 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 = 51 "{{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}}" "0000263149" "0" "50" "2" "25967160" "25967174" "del" "0" "01943" "ASXL2_000001" "g.25967160_25967174del" "" "" "" "ASXL2(NM_018263.5):c.2037_2051delAGCTGCTGCAGCCGC (p.A680_A684del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25744291_25744305del" "" "VUS" "" "0000515446" "0" "50" "2" "25964939" "25964939" "subst" "8.12447E-6" "01943" "ASXL2_000003" "g.25964939C>T" "" "" "" "ASXL2(NM_018263.5):c.4267G>A (p.G1423S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25742070C>T" "" "VUS" "" "0000515447" "0" "30" "2" "25965095" "25965095" "subst" "0.0050398" "01943" "ASXL2_000004" "g.25965095G>T" "" "" "" "ASXL2(NM_018263.5):c.4111C>A (p.Q1371K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25742226G>T" "" "likely benign" "" "0000515453" "0" "30" "2" "25965594" "25965594" "subst" "0" "01943" "ASXL2_000010" "g.25965594A>C" "" "" "" "ASXL2(NM_018263.5):c.3612T>G (p.S1204R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25742725A>C" "" "likely benign" "" "0000515455" "0" "90" "2" "25972585" "25972585" "subst" "0" "02327" "ASXL2_000012" "g.25972585G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25749716G>A" "" "pathogenic" "" "0000515456" "0" "50" "2" "25972654" "25972654" "subst" "1.26702E-5" "01943" "ASXL2_000013" "g.25972654G>A" "" "" "" "ASXL2(NM_018263.5):c.1771C>T (p.R591C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25749785G>A" "" "VUS" "" "0000515457" "0" "30" "2" "25972696" "25972696" "subst" "4.12575E-6" "01804" "ASXL2_000014" "g.25972696C>A" "" "" "" "ASXL2(NM_018263.4):c.1729G>T (p.(Ala577Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25749827C>A" "" "likely benign" "" "0000515459" "0" "30" "2" "25972936" "25972936" "subst" "0.00448013" "01943" "ASXL2_000016" "g.25972936C>T" "" "" "" "ASXL2(NM_018263.5):c.1489G>A (p.A497T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25750067C>T" "" "likely benign" "" "0000515460" "0" "50" "2" "25991632" "25991632" "subst" "0" "01804" "ASXL2_000017" "g.25991632C>A" "" "" "" "ASXL2(NM_018263.4):c.610G>T (p.(Asp204Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25768763C>A" "" "VUS" "" "0000515461" "0" "70" "2" "25994410" "25994410" "subst" "0" "01943" "ASXL2_000018" "g.25994410C>T" "" "" "" "ASXL2(NM_018263.5):c.404-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25771541C>T" "" "likely pathogenic" "" "0000515462" "0" "30" "2" "26068164" "26068164" "subst" "0.000368843" "01943" "ASXL2_000019" "g.26068164T>C" "" "" "" "ASXL2(NM_018263.5):c.141-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25845295T>C" "" "likely benign" "" "0000631926" "0" "70" "2" "25973116" "25973116" "subst" "0" "01807" "ASXL2_000020" "g.25973116G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.25750247G>A" "" "likely pathogenic" "" "0000676598" "0" "30" "2" "25965764" "25965764" "subst" "2.03079E-5" "01804" "ASXL2_000022" "g.25965764C>T" "" "" "" "ASXL2(NM_018263.4):c.3442G>A (p.(Asp1148Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000698216" "0" "70" "2" "25966785" "25966785" "del" "0" "00006" "ASXL2_000023" "g.25966785del" "" "{PMID:Zhu 2015:25590979}" "" "" "" "De novo" "" "" "0" "" "" "g.25743916del" "" "VUS" "" "0000718701" "0" "90" "2" "25966346" "25966347" "del" "0" "02327" "ASXL2_000024" "g.25966346_25966347del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000718702" "0" "30" "2" "25966753" "25966753" "subst" "0" "01804" "ASXL2_000025" "g.25966753A>G" "" "" "" "ASXL2(NM_018263.4):c.2453T>C (p.(Val818Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718703" "0" "50" "2" "25972836" "25972836" "subst" "8.12381E-6" "02329" "ASXL2_000015" "g.25972836C>A" "" "" "" "ASXL2(NM_018263.6):c.1589G>T (p.S530I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000789926" "0" "70" "2" "25965412" "25965412" "subst" "0" "01164" "ASXL2_000026" "g.25965412A>C" "" "" "" "" "PVS1_STR, PM2_SUP (truncating varinat in last exon, removes >10% of coding part; PVS1_STR)" "Germline/De novo (untested)" "?" "" "" "" "" "" "" "VUS (!)" "ACMG" "0000800540" "0" "50" "2" "25965559" "25965559" "subst" "0" "01943" "ASXL2_000027" "g.25965559C>A" "" "" "" "ASXL2(NM_018263.5):c.3647G>T (p.S1216I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800541" "0" "30" "2" "25966582" "25966582" "subst" "1.21839E-5" "01943" "ASXL2_000028" "g.25966582T>A" "" "" "" "ASXL2(NM_018263.5):c.2624A>T (p.D875V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800542" "0" "50" "2" "25991689" "25991689" "subst" "1.62464E-5" "01943" "ASXL2_000029" "g.25991689T>G" "" "" "" "ASXL2(NM_018263.5):c.553A>C (p.S185R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849834" "0" "30" "2" "25990585" "25990585" "subst" "0.000207197" "01943" "ASXL2_000034" "g.25990585T>C" "" "" "" "ASXL2(NM_018263.5):c.642A>G (p.E214=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858465" "0" "30" "2" "25965018" "25965018" "subst" "0.000308637" "01943" "ASXL2_000030" "g.25965018C>T" "" "" "" "ASXL2(NM_018263.5):c.4188G>A (p.T1396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858466" "0" "30" "2" "25965042" "25965042" "subst" "0.00041424" "01943" "ASXL2_000031" "g.25965042G>A" "" "" "" "ASXL2(NM_018263.5):c.4164C>T (p.S1388=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858467" "0" "50" "2" "25967172" "25967177" "dup" "0" "01943" "ASXL2_000032" "g.25967172_25967177dup" "" "" "" "ASXL2(NM_018263.5):c.2031_2036dupCGCCGC (p.A683_A684dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858468" "0" "30" "2" "25972800" "25972800" "subst" "2.03115E-5" "01943" "ASXL2_000033" "g.25972800G>C" "" "" "" "ASXL2(NM_018263.5):c.1625C>G (p.A542G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885103" "0" "50" "2" "25965781" "25965781" "subst" "0" "02325" "ASXL2_000035" "g.25965781T>C" "" "" "" "ASXL2(NM_018263.6):c.3425A>G (p.H1142R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885104" "0" "30" "2" "25982347" "25982347" "subst" "4.87928E-5" "02325" "ASXL2_000036" "g.25982347G>A" "" "" "" "ASXL2(NM_018263.6):c.939+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885105" "0" "30" "2" "25990560" "25990560" "subst" "4.06177E-5" "02325" "ASXL2_000037" "g.25990560C>T" "" "" "" "ASXL2(NM_018263.6):c.667G>A (p.G223S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911666" "0" "50" "2" "25994394" "25994394" "subst" "8.59423E-5" "02325" "ASXL2_000038" "g.25994394G>A" "" "" "" "ASXL2(NM_018263.6):c.419C>T (p.P140L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947819" "0" "30" "2" "25967156" "25967156" "subst" "0.000369264" "01804" "ASXL2_000039" "g.25967156C>T" "" "" "" "ASXL2(NM_018263.4):c.2050G>A (p.(Ala684Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947820" "0" "30" "2" "25972785" "25972785" "subst" "0.0014628" "01804" "ASXL2_000040" "g.25972785T>C" "" "" "" "ASXL2(NM_018263.4):c.1640A>G (p.(Gln547Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000959816" "0" "90" "2" "0" "0" "" "" "00006" "ASXL2_000041" "g.pter_(25994410_26022253)delins[NC_000009.11:g.(109701389_109734285)qterinv]" "" "{PMID:Ramocki 2003:12825074}" "" "" "" "De novo" "" "" "0" "" "t(2;9)(p24;q32)" "g.pter_(25771541_25799384)delins[NC_000009.12:g.(106939108_106972004)qterinv]" "" "pathogenic (dominant)" "" "0000989189" "0" "30" "2" "25966880" "25966880" "subst" "0" "03779" "ASXL2_000043" "g.25966880T>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs1574390972" "0" "" "" "" "" "likely benign" "" "0000989627" "1" "90" "2" "25964906" "25964906" "subst" "4.09062E-6" "00006" "ASXL2_000044" "g.25964906C>T" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "ASXL2 4300G​>A" "" "Germline" "" "" "0" "" "" "NC_000002.12:g.25742037C>T" "" "pathogenic" "" "0000989628" "2" "90" "2" "26029148" "26029148" "subst" "0" "00006" "ASXL2_000045" "g.26029148C>T" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "ASXL2 202G>A" "" "Germline" "" "" "0" "" "" "g.25806279C>T" "" "pathogenic" "" "0000992777" "0" "30" "2" "26101123" "26101123" "subst" "0" "01804" "ASXL2_000046" "g.26101123T>C" "" "" "" "ASXL2(NM_018263.4):c.-32A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001011145" "0" "50" "2" "25964906" "25964906" "subst" "4.09062E-6" "00006" "ASXL2_000044" "g.25964906C>T" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.25742037C>T" "" "VUS" "" "0001013710" "0" "30" "2" "25965013" "25965013" "subst" "2.03054E-5" "02325" "ASXL2_000047" "g.25965013G>A" "" "" "" "ASXL2(NM_018263.6):c.4193C>T (p.S1398L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024566" "0" "50" "2" "25965581" "25965581" "subst" "0" "02325" "ASXL2_000048" "g.25965581C>T" "" "" "" "ASXL2(NM_018263.6):c.3625G>A (p.D1209N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033217" "0" "30" "2" "25965940" "25965940" "subst" "1.21829E-5" "01804" "ASXL2_000049" "g.25965940T>C" "" "" "" "ASXL2(NM_018263.6):c.3266A>G (p.(Asn1089Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033218" "0" "50" "2" "25966142" "25966142" "subst" "0" "01804" "ASXL2_000050" "g.25966142T>C" "" "" "" "ASXL2(NM_018263.6):c.3064A>G (p.(Lys1022Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033219" "0" "50" "2" "25978882" "25978882" "subst" "0" "01804" "ASXL2_000051" "g.25978882C>T" "" "" "" "ASXL2(NM_018263.6):c.1036+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033220" "0" "30" "2" "25978986" "25978986" "subst" "0" "01804" "ASXL2_000052" "g.25978986G>A" "" "" "" "ASXL2(NM_018263.6):c.940-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033221" "0" "30" "2" "25988170" "25988170" "subst" "0" "01804" "ASXL2_000053" "g.25988170C>T" "" "" "" "ASXL2(NM_018263.6):c.775+2282G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033222" "0" "30" "2" "25988171" "25988171" "subst" "0" "01804" "ASXL2_000054" "g.25988171A>G" "" "" "" "ASXL2(NM_018263.6):c.775+2281T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033223" "0" "30" "2" "25988182" "25988182" "subst" "0" "01804" "ASXL2_000055" "g.25988182G>A" "" "" "" "ASXL2(NM_018263.6):c.775+2270C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033224" "0" "30" "2" "26006706" "26006707" "ins" "0" "01804" "ASXL2_000056" "g.26006706_26006707insTT" "" "" "" "ASXL2(NM_018263.6):c.404-12298_404-12297insAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033225" "0" "30" "2" "26006714" "26006714" "subst" "0" "01804" "ASXL2_000057" "g.26006714A>G" "" "" "" "ASXL2(NM_018263.6):c.404-12305T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033226" "0" "50" "2" "26022295" "26022295" "subst" "0" "01804" "ASXL2_000058" "g.26022295C>T" "" "" "" "ASXL2(NM_018263.6):c.362G>A (p.(Gly121Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033227" "0" "30" "2" "26081807" "26081807" "subst" "0" "01804" "ASXL2_000059" "g.26081807C>T" "" "" "" "ASXL2(NM_018263.6):c.58-13375G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ASXL2 ## Count = 51 "{{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}}" "0000263149" "00003006" "50" "2037" "0" "2051" "0" "c.2037_2051del" "r.(?)" "p.(Ala680_Ala684del)" "" "0000515446" "00003006" "50" "4267" "0" "4267" "0" "c.4267G>A" "r.(?)" "p.(Gly1423Ser)" "" "0000515447" "00003006" "30" "4111" "0" "4111" "0" "c.4111C>A" "r.(?)" "p.(Gln1371Lys)" "" "0000515453" "00003006" "30" "3612" "0" "3612" "0" "c.3612T>G" "r.(?)" "p.(Ser1204Arg)" "" "0000515455" "00003006" "90" "1840" "0" "1840" "0" "c.1840C>T" "r.(?)" "p.(Arg614Ter)" "" "0000515456" "00003006" "50" "1771" "0" "1771" "0" "c.1771C>T" "r.(?)" "p.(Arg591Cys)" "" "0000515457" "00003006" "30" "1729" "0" "1729" "0" "c.1729G>T" "r.(?)" "p.(Ala577Ser)" "" "0000515459" "00003006" "30" "1489" "0" "1489" "0" "c.1489G>A" "r.(?)" "p.(Ala497Thr)" "" "0000515460" "00003006" "50" "610" "0" "610" "0" "c.610G>T" "r.(?)" "p.(Asp204Tyr)" "" "0000515461" "00003006" "70" "404" "-1" "404" "-1" "c.404-1G>A" "r.spl?" "p.?" "" "0000515462" "00003006" "30" "141" "-2" "141" "-2" "c.141-2A>G" "r.spl?" "p.?" "" "0000631926" "00003006" "70" "1309" "0" "1309" "0" "c.1309C>T" "r.(?)" "p.(Gln437*)" "" "0000676598" "00003006" "30" "3442" "0" "3442" "0" "c.3442G>A" "r.(?)" "p.(Asp1148Asn)" "" "0000698216" "00003006" "70" "2424" "0" "2424" "0" "c.2424del" "r.(?)" "p.(Thr809Profs*32)" "" "0000718701" "00003006" "90" "2859" "0" "2860" "0" "c.2859_2860del" "r.(?)" "p.(Thr954Serfs*16)" "" "0000718702" "00003006" "30" "2453" "0" "2453" "0" "c.2453T>C" "r.(?)" "p.(Val818Ala)" "" "0000718703" "00003006" "50" "1589" "0" "1589" "0" "c.1589G>T" "r.(?)" "p.(Ser530Ile)" "" "0000789926" "00003006" "70" "3794" "0" "3794" "0" "c.3794T>G" "r.(?)" "p.(Leu1265*)" "" "0000800540" "00003006" "50" "3647" "0" "3647" "0" "c.3647G>T" "r.(?)" "p.(Ser1216Ile)" "" "0000800541" "00003006" "30" "2624" "0" "2624" "0" "c.2624A>T" "r.(?)" "p.(Asp875Val)" "" "0000800542" "00003006" "50" "553" "0" "553" "0" "c.553A>C" "r.(?)" "p.(Ser185Arg)" "" "0000849834" "00003006" "30" "642" "0" "642" "0" "c.642A>G" "r.(?)" "p.(Glu214=)" "" "0000858465" "00003006" "30" "4188" "0" "4188" "0" "c.4188G>A" "r.(?)" "p.(Thr1396=)" "" "0000858466" "00003006" "30" "4164" "0" "4164" "0" "c.4164C>T" "r.(?)" "p.(Ser1388=)" "" "0000858467" "00003006" "50" "2031" "0" "2036" "0" "c.2031_2036dup" "r.(?)" "p.(Ala683_Ala684dup)" "" "0000858468" "00003006" "30" "1625" "0" "1625" "0" "c.1625C>G" "r.(?)" "p.(Ala542Gly)" "" "0000885103" "00003006" "50" "3425" "0" "3425" "0" "c.3425A>G" "r.(?)" "p.(His1142Arg)" "" "0000885104" "00003006" "30" "939" "4" "939" "4" "c.939+4C>T" "r.spl?" "p.?" "" "0000885105" "00003006" "30" "667" "0" "667" "0" "c.667G>A" "r.(?)" "p.(Gly223Ser)" "" "0000911666" "00003006" "50" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Pro140Leu)" "" "0000947819" "00003006" "30" "2050" "0" "2050" "0" "c.2050G>A" "r.(?)" "p.(Ala684Thr)" "" "0000947820" "00003006" "30" "1640" "0" "1640" "0" "c.1640A>G" "r.(?)" "p.(Gln547Arg)" "" "0000959816" "00003006" "90" "404" "-1" "6953" "0" "c.(403+1_404-1)_*2645delinsins[NC_000009.11:g.(109701389_109734285)qterinv]" "r.-221_403::NM_021224.4:r.6428_*496" "p.Met1_Lys134::NP_067047.4:p.Asp2143_Ter2507" "5i" "0000989189" "00003006" "30" "2326" "0" "2326" "0" "c.2326A>C" "r.(?)" "p.(Thr776Pro)" "" "0000989627" "00003006" "90" "4300" "0" "4300" "0" "c.4300G>A" "r.(?)" "p.(Val1434Ile)" "" "0000989628" "00003006" "90" "202" "0" "202" "0" "c.202G>A" "r.(?)" "p.(Glu68Lys)" "" "0000992777" "00003006" "30" "-32" "0" "-32" "0" "c.-32A>G" "r.(?)" "p.(=)" "" "0001011145" "00003006" "50" "4300" "0" "4300" "0" "c.4300G>A" "r.(?)" "p.(Val1434Ile)" "" "0001013710" "00003006" "30" "4193" "0" "4193" "0" "c.4193C>T" "r.(?)" "p.(Ser1398Leu)" "" "0001024566" "00003006" "50" "3625" "0" "3625" "0" "c.3625G>A" "r.(?)" "p.(Asp1209Asn)" "" "0001033217" "00003006" "30" "3266" "0" "3266" "0" "c.3266A>G" "r.(?)" "p.(Asn1089Ser)" "" "0001033218" "00003006" "50" "3064" "0" "3064" "0" "c.3064A>G" "r.(?)" "p.(Lys1022Glu)" "" "0001033219" "00003006" "50" "1036" "5" "1036" "5" "c.1036+5G>A" "r.spl?" "p.?" "" "0001033220" "00003006" "30" "940" "-3" "940" "-3" "c.940-3C>T" "r.spl?" "p.?" "" "0001033221" "00003006" "30" "775" "2282" "775" "2282" "c.775+2282G>A" "r.(=)" "p.(=)" "" "0001033222" "00003006" "30" "775" "2281" "775" "2281" "c.775+2281T>C" "r.(=)" "p.(=)" "" "0001033223" "00003006" "30" "775" "2270" "775" "2270" "c.775+2270C>T" "r.(=)" "p.(=)" "" "0001033224" "00003006" "30" "404" "-12298" "404" "-12297" "c.404-12298_404-12297insAA" "r.(=)" "p.(=)" "" "0001033225" "00003006" "30" "404" "-12305" "404" "-12305" "c.404-12305T>C" "r.(=)" "p.(=)" "" "0001033226" "00003006" "50" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Gly121Asp)" "" "0001033227" "00003006" "30" "58" "-13375" "58" "-13375" "c.58-13375G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000277182" "0000631926" "0000316045" "0000698216" "0000377552" "0000789926" "0000449565" "0000959816" "0000454665" "0000989627" "0000454665" "0000989628" "0000454698" "0001011145"