Full data view for gene ASXL1

Information The variants shown are described using the NM_015338.5 transcript reference sequence.

111 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.24G>T likely benign r.(?) p.(Lys8Asn) Unknown g.30946602G>T - ASXL1(NM_015338.5):c.24G>T (p.K8N) - ASXL1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.57+19G>A benign r.(=) p.(=) Unknown g.30946654G>A - ASXL1(NM_015338.5):c.57+19G>A - ASXL1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.140+26A>G benign r.(=) p.(=) Unknown g.30954295A>G - ASXL1(NM_015338.5):c.140+26A>G - ASXL1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.252+11T>C likely benign r.(=) p.(=) Unknown g.30956937T>C - ASXL1(NM_015338.5):c.252+11T>C - ASXL1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.314C>T VUS r.(?) p.(Thr105Met) Unknown g.31015992C>T - ASXL1(NM_015338.5):c.314C>T (p.T105M) - ASXL1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.374-9C>T likely benign r.(=) p.(=) Unknown g.31016119C>T - ASXL1(NM_015338.5):c.374-9C>T (p.?) - ASXL1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.374-9C>T benign r.(=) p.(=) Unknown g.31016119C>T - ASXL1(NM_015338.5):c.374-9C>T (p.?) - ASXL1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.374-9C>T benign r.(=) p.(=) Unknown g.31016119C>T - ASXL1(NM_015338.5):c.374-9C>T (p.?) - ASXL1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.450C>T likely benign r.(?) p.(=) Unknown g.31016204C>T - ASXL1(NM_015338.5):c.450C>T (p.=) - ASXL1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.472-22T>C benign r.(=) p.(=) Unknown g.31017119T>C - ASXL1(NM_015338.5):c.472-22T>C - ASXL1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.472-2A>G VUS r.spl? p.? Unknown g.31017139A>G - ASXL1(NM_015338.5):c.472-2A>G - ASXL1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.540C>T benign r.(?) p.(=) Unknown g.31017209C>T - ASXL1(NM_015338.5):c.540C>T (p.N180=) - ASXL1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.572C>T likely benign r.(?) p.(Ser191Leu) Unknown g.31017710C>T - ASXL1(NM_015338.5):c.572C>T (p.(Ser191Leu)) - ASXL1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.582C>T benign r.(?) p.(=) Unknown g.31017720C>T - ASXL1(NM_015338.5):c.582C>T (p.=) - ASXL1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.764C>T VUS r.(?) p.(Pro255Leu) Unknown g.31019169C>T - ASXL1(NM_015338.5):c.764C>T (p.Pro255Leu) - ASXL1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.883-2A>G VUS r.spl? p.? Unknown g.31019384A>G - ASXL1(NM_015338.5):c.883-2A>G (p.?) - ASXL1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.947C>T VUS r.(?) p.(Ala316Val) Unknown g.31019450C>T - ASXL1(NM_015338.5):c.947C>T (p.Ala316Val) - ASXL1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.990T>G likely benign r.(?) p.(=) Unknown g.31020693T>G - ASXL1(NM_015338.5):c.990T>G (p.=) - ASXL1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1175C>A pathogenic r.(?) p.(Ser392*) Unknown g.31021176C>A - ASXL1(NM_015338.5):c.1175C>A (p.Ser392*) - ASXL1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1178T>C likely benign r.(?) p.(Val393Ala) Unknown g.31021179T>C - ASXL1(NM_015338.5):c.1178T>C (p.(Val393Ala)) - ASXL1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1205G>A likely benign r.(?) p.(Arg402Gln) Unknown g.31021206G>A - ASXL1(NM_015338.5):c.1205G>A (p.(Arg402Gln)) - ASXL1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1210C>T - r.(?) p.(Arg404*) Unknown g.31021211C>T g.32433408C>T - - ASXL1_000002 de novo, in patient PubMed: Hoischen 2011 - - De novo - 1/13 cases - 0 - DNA SEQ-NG-S - - BOPS - PubMed: Hoischen 2011, PubMed: Hastings 2011 - F - - - - 0 - - 1 Gerard C.P. Schaafsma
+/. - c.1210C>T pathogenic r.(?) p.(Arg404*) Unknown g.31021211C>T - ASXL1(NM_015338.5):c.1210C>T (p.Arg404*) - ASXL1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 12 c.1210C>T ACMG: 5 r.(?) p.(Arg404*) Unknown g.31021211C>T - - - ASXL1_000002 - PubMed: Tumienė 2018 - - De novo - - - 0 - DNA SEQ-NG - WES ? 29286531-Pat01 PubMed: Tumienė 2018 - - - (Slovenia) - - 0 - - 1 Johan den Dunnen
+/. - c.1283_1284del pathogenic r.(?) p.(Gln428Argfs*9) Unknown g.31021284_31021285del - ASXL1(NM_015338.5):c.1283_1284delAG (p.Q428Rfs*9) - ASXL1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1429G>C likely benign r.(?) p.(Glu477Gln) Unknown g.31021430G>C - ASXL1(NM_015338.5):c.1429G>C (p.(Glu477Gln)) - ASXL1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1492G>A likely benign r.(?) p.(Ala498Thr) Unknown g.31021493G>A - ASXL1(NM_015338.5):c.1492G>A (p.(Ala498Thr)) - ASXL1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1762C>T pathogenic r.(?) p.(Gln588*) Unknown g.31022277C>T - ASXL1(NM_015338.5):c.1762C>T (p.Gln588*) - ASXL1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1907C>T likely benign r.(?) p.(Ala636Val) Unknown g.31022422C>T - ASXL1(NM_015338.5):c.1907C>T (p.A636V) - ASXL1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1927G>T likely benign r.(?) p.(Gly643Trp) Unknown g.31022442G>T - ASXL1(NM_015338.5):c.1927G>T (p.G643W) - ASXL1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1934dup pathogenic r.(?) p.(Gly646Trpfs*12) Unknown g.31022449dup - ASXL1:NM_015338.5:c.1934dup (Gly646fs) - ASXL1_000065 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1934dup likely benign r.(?) p.(Gly646Trpfs*12) Unknown g.31022449dup - ASXL1(NM_015338.5):c.1926_1927insG (p.(Gly646TrpfsTer12)) - ASXL1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1954G>A benign r.(?) p.(Gly652Ser) Unknown g.31022469G>A - ASXL1(NM_015338.5):c.1954G>A (p.Gly652Ser) - ASXL1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1954G>A likely benign r.(?) p.(Gly652Ser) Unknown g.31022469G>A - ASXL1(NM_015338.5):c.1954G>A (p.Gly652Ser) - ASXL1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1965C>T likely benign r.(?) p.(=) Unknown g.31022480C>T - ASXL1(NM_015338.5):c.1965C>T (p.=) - ASXL1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1981A>T pathogenic r.(?) p.(Arg661*) Unknown g.31022496A>T - ASXL1(NM_015338.5):c.1981A>T (p.Arg661*) - ASXL1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2064G>A likely benign r.(?) p.(=) Unknown g.31022579G>A - ASXL1(NM_015338.5):c.2064G>A (p.=) - ASXL1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2127C>T likely benign r.(?) p.(=) Unknown g.31022642C>T - ASXL1(NM_015338.5):c.2127C>T (p.A709=) - ASXL1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 13 c.2197C>T - r.(?) p.(Gln733*) Unknown g.31022712C>T g.32434909C>T - - ASXL1_000005 de novo, in patient PubMed: Hoischen 2011 - - De novo - 1/13 cases - 0 - DNA SEQ - - BOPS - PubMed: Hoischen 2011 - F - - - - 0 - - 1 Gerard C.P. Schaafsma
+/. - c.2317G>T pathogenic r.(?) p.(Glu773*) Unknown g.31022832G>T - ASXL1(NM_015338.5):c.2317G>T (p.Glu773*) - ASXL1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2324T>G pathogenic r.(?) p.(Leu775*) Unknown g.31022839T>G - ASXL1(NM_015338.5):c.2324T>G (p.Leu775*) - ASXL1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 13 c.2332C>T - r.(?) p.(Gln778*) Unknown g.31022847C>T g.32435044C>T - - ASXL1_000007 de novo, in patient PubMed: Hoischen 2011 - - De novo - 1/13 cases - 0 - DNA SEQ - - BOPS - PubMed: Hoischen 2011, PubMed: Hastings 2011 - M - - - - 0 - - 1 Gerard C.P. Schaafsma
-?/. - c.2337T>G likely benign r.(?) p.(=) Unknown g.31022852T>G - ASXL1(NM_015338.5):c.2337T>G (p.=) - ASXL1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2395G>T benign r.(?) p.(Asp799Tyr) Unknown g.31022910G>T - ASXL1(NM_015338.5):c.2395G>T (p.D799Y) - ASXL1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2416A>G likely benign r.(?) p.(Thr806Ala) Unknown g.31022931A>G - ASXL1(NM_015338.5):c.2416A>G (p.(Thr806Ala)) - ASXL1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2423C>A VUS r.(?) p.(Pro808His) Unknown g.31022938C>A - ASXL1(NM_015338.5):c.2423C>A (p.(Pro808His)) - ASXL1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2423C>A likely benign r.(?) p.(Pro808His) Unknown g.31022938C>A - ASXL1(NM_015338.5):c.2423C>A (p.(Pro808His)) - ASXL1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2444T>C benign r.(?) p.(Leu815Pro) Unknown g.31022959T>C - ASXL1(NM_015338.5):c.2444T>C (p.L815P) - ASXL1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2444T>C benign r.(?) p.(Leu815Pro) Unknown g.31022959T>C - ASXL1(NM_015338.5):c.2444T>C (p.L815P) - ASXL1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 13 c.2468T>G - r.(?) p.(Leu823*) Unknown g.31022983T>G g.32435180T>G - - ASXL1_000006 de novo, in patient PubMed: Hoischen 2011 - - De novo - 1/13 cases - 0 - DNA SEQ - - BOPS - PubMed: Hoischen 2011, PubMed: Hastings 2011 - F - - - - 0 - - 1 Gerard C.P. Schaafsma
-?/. - c.2513A>G likely benign r.(?) p.(Lys838Arg) Unknown g.31023028A>G - ASXL1(NM_015338.5):c.2513A>G (p.Lys838Arg) - ASXL1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2513A>G benign r.(?) p.(Lys838Arg) Unknown g.31023028A>G - ASXL1(NM_015338.5):c.2513A>G (p.Lys838Arg) - ASXL1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2526T>C likely benign r.(?) p.(=) Unknown g.31023041T>C - ASXL1(NM_015338.5):c.2526T>C (p.=) - ASXL1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 13 c.2535dup - r.(?) p.(Ser846Glnfs*5) Unknown g.31023050dup g.32435247dup - - ASXL1_000004 de novo, in patient PubMed: Hoischen 2011 - - De novo - 1/13 cases - 0 - DNA SEQ - - BOPS - PubMed: Hoischen 2011 - F - - - - 0 - - 1 Gerard C.P. Schaafsma
-?/. - c.2544A>T likely benign r.(?) p.(=) Unknown g.31023059A>T - ASXL1(NM_015338.5):c.2544A>T (p.T848=) - ASXL1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2558C>T likely benign r.(?) p.(Pro853Leu) Unknown g.31023073C>T - ASXL1(NM_015338.5):c.2558C>T (p.(Pro853Leu)) - ASXL1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2618C>T likely benign r.(?) p.(Pro873Leu) Unknown g.31023133C>T - ASXL1(NM_015338.5):c.2618C>T (p.P873L) - ASXL1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 13 c.2773C>T - r.(?) p.(Gln925*) Unknown g.31023288C>T g.32435485C>T - - ASXL1_000001 de novo, in patient PubMed: Hoischen 2011 - - De novo - 1/13 cases - 0 - DNA SEQ-NG-S - - BOPS - PubMed: Hoischen 2011, PubMed: Hastings 2011 - F - - - - 0 - - 1 Gerard C.P. Schaafsma
+/. - c.2893C>T pathogenic r.(?) p.(Arg965*) Unknown g.31023408C>T - ASXL1(NM_015338.5):c.2893C>T (p.Arg965*) - ASXL1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2957A>G likely benign r.(?) p.(Asn986Ser) Unknown g.31023472A>G - ASXL1(NM_015338.5):c.2957A>G (p.N986S) - ASXL1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2985C>T benign r.(?) p.(=) Unknown g.31023500C>T - ASXL1(NM_015338.5):c.2985C>T (p.=) - ASXL1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2985C>T benign r.(?) p.(=) Unknown g.31023500C>T - ASXL1(NM_015338.5):c.2985C>T (p.=) - ASXL1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 13 c.3083C>A - r.(?) p.(Ser1028*) Unknown g.31023598C>A g.32435795C>A - - ASXL1_000003 de novo, in patient PubMed: Hoischen 2011 - - De novo - 1/13 cases - 0 - DNA SEQ-NG-S - - BOPS - PubMed: Hoischen 2011, PubMed: Hastings 2011 - F - - - - 0 - - 1 Gerard C.P. Schaafsma
+?/. - c.3202C>T likely pathogenic r.(?) p.(Arg1068*) Unknown g.31023717C>T - ASXL1(NM_015338.5):c.3202C>T (p.Arg1068*) - ASXL1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3274G>A likely benign r.(?) p.(Val1092Met) Unknown g.31023789G>A - ASXL1(NM_015338.5):c.3274G>A (p.(Val1092Met)) - ASXL1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3274G>A likely benign r.(?) p.(Val1092Met) Unknown g.31023789G>A - ASXL1(NM_015338.5):c.3274G>A (p.(Val1092Met)) - ASXL1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3306G>T benign r.(?) p.(Glu1102Asp) Unknown g.31023821G>T - ASXL1(NM_015338.5):c.3306G>T (p.Glu1102Asp) - ASXL1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3306G>T benign r.(?) p.(Glu1102Asp) Unknown g.31023821G>T - ASXL1(NM_015338.5):c.3306G>T (p.Glu1102Asp) - ASXL1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3306G>T likely benign r.(?) p.(Glu1102Asp) Unknown g.31023821G>T - ASXL1(NM_015338.5):c.3306G>T (p.Glu1102Asp) - ASXL1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3379G>A likely benign r.(?) p.(Asp1127Asn) Unknown g.31023894G>A - ASXL1(NM_015338.5):c.3379G>A (p.(Asp1127Asn)) - ASXL1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3384C>T likely benign r.(?) p.(=) Unknown g.31023899C>T - ASXL1(NM_015338.5):c.3384C>T (p.D1128=) - ASXL1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3449G>T likely benign r.(?) p.(Gly1150Val) Unknown g.31023964G>T - ASXL1(NM_015338.5):c.3449G>T (p.(Gly1150Val)) - ASXL1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3482T>C likely benign r.(?) p.(Met1161Thr) Unknown g.31023997T>C - ASXL1(NM_015338.5):c.3482T>C (p.M1161T) - ASXL1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3498C>G benign r.(?) p.(Ser1166Arg) Unknown g.31024013C>G - ASXL1(NM_015338.5):c.3498C>G (p.S1166R) - ASXL1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3513G>A benign r.(?) p.(=) Unknown g.31024028G>A - ASXL1(NM_015338.5):c.3513G>A (p.=) - ASXL1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3513G>A benign r.(?) p.(=) Unknown g.31024028G>A - ASXL1(NM_015338.5):c.3513G>A (p.=) - ASXL1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3519G>A benign r.(?) p.(=) Unknown g.31024034G>A - ASXL1(NM_015338.5):c.3519G>A (p.=) - ASXL1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3519G>A likely benign r.(?) p.(=) Unknown g.31024034G>A - ASXL1(NM_015338.5):c.3519G>A (p.=) - ASXL1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3596_3606del pathogenic r.(?) p.(Ala1199Glufs*9) Unknown g.31024111_31024121del - ASXL1(NM_015338.5):c.3596_3606delCACCCCAAAAG (p.A1199Efs*9) - ASXL1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3635C>T VUS r.(?) p.(Ser1212Phe) Unknown g.31024150C>T - ASXL1(NM_015338.5):c.3635C>T (p.(Ser1212Phe)) - ASXL1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3642T>G likely benign r.(?) p.(His1214Gln) Unknown g.31024157T>G - ASXL1(NM_015338.5):c.3642T>G (p.(His1214Gln)) - ASXL1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3642_3645del - r.(?) p.(His1214Glnfs*2) Unknown g.31024157_31024160del - - - ASXL1_000082 - - - - Unknown - - - 0 - DNA SEQ - - - - - - M - (Germany) - - 0 - - 1 IMGAG
?/. - c.3664T>G VUS r.(?) p.(Ser1222Ala) Unknown g.31024179T>G - ASXL1(NM_015338.5):c.3664T>G (p.(Ser1222Ala)) - ASXL1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3692C>T VUS r.(?) p.(Ser1231Phe) Unknown g.31024207C>T - ASXL1(NM_015338.5):c.3692C>T (p.Ser1231Phe) - ASXL1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3692C>T benign r.(?) p.(Ser1231Phe) Unknown g.31024207C>T - ASXL1(NM_015338.5):c.3692C>T (p.Ser1231Phe) - ASXL1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3745A>G likely benign r.(?) p.(Met1249Val) Unknown g.31024260A>G - ASXL1(NM_015338.5):c.3745A>G (p.(Met1249Val)) - ASXL1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3745A>G likely benign r.(?) p.(Met1249Val) Unknown g.31024260A>G - ASXL1(NM_015338.5):c.3745A>G (p.(Met1249Val)) - ASXL1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3759T>C benign r.(?) p.(=) Unknown g.31024274T>C - ASXL1(NM_015338.5):c.3759T>C (p.S1253=) - ASXL1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3759T>C benign r.(?) p.(=) Unknown g.31024274T>C - ASXL1(NM_015338.5):c.3759T>C (p.S1253=) - ASXL1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3759T>C benign r.(?) p.(=) Unknown g.31024274T>C - ASXL1(NM_015338.5):c.3759T>C (p.S1253=) - ASXL1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 12 c.3856C>T likely pathogenic r.(?) p.(Gln1286*) Unknown g.31024371C>T - - - ASXL1_000083 - - - - De novo - - - 0 - RNA SEQ-NG - - BOPS - - - M - - - - 0 - - 1 Cristina Gervasini
?/. - c.3869C>T VUS r.(?) p.(Ala1290Val) Unknown g.31024384C>T - ASXL1(NM_015338.5):c.3869C>T (p.A1290V) - ASXL1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3910C>G likely benign r.(?) p.(Leu1304Val) Unknown g.31024425C>G - ASXL1(NM_015338.5):c.3910C>G (p.(Leu1304Val)) - ASXL1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3935C>T likely benign r.(?) p.(Ala1312Val) Unknown g.31024450C>T - ASXL1(NM_015338.5):c.3935C>T (p.A1312V) - ASXL1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3939C>T likely benign r.(?) p.(=) Unknown g.31024454C>T - ASXL1(NM_015338.5):c.3939C>T (p.=) - ASXL1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3947_3948delinsTT VUS r.(?) p.(Arg1316Leu) Unknown g.31024462_31024463delinsTT - ASXL1(NM_015338.5):c.3947_3948delGCinsTT (p.R1316L) - ASXL1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3973C>T benign r.(?) p.(Leu1325Phe) Unknown g.31024488C>T - ASXL1(NM_015338,5):c.3973C>T (p.Leu1325Phe) - ASXL1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3973C>T benign r.(?) p.(Leu1325Phe) Unknown g.31024488C>T - ASXL1(NM_015338,5):c.3973C>T (p.Leu1325Phe) - ASXL1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4162A>C likely benign r.(?) p.(Thr1388Pro) Unknown g.31024677A>C - ASXL1(NM_015338.5):c.4162A>C (p.(Thr1388Pro)) - ASXL1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4174C>T likely benign r.(?) p.(Pro1392Ser) Unknown g.31024689C>T - ASXL1(NM_015338.5):c.4174C>T (p.P1392S) - ASXL1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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