All variants in the ASXL1 gene

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

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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     

Owner     
-?/. - c.24G>T r.(?) p.(Lys8Asn) - likely benign g.30946602G>T g.32358799G>T ASXL1(NM_015338.5):c.24G>T (p.K8N) - ASXL1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.57+19G>A r.(=) p.(=) - benign g.30946654G>A g.32358851G>A ASXL1(NM_015338.5):c.57+19G>A - ASXL1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.140+26A>G r.(=) p.(=) - benign g.30954295A>G g.32366492A>G ASXL1(NM_015338.5):c.140+26A>G - ASXL1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.236G>A r.(?) p.(Ser79Asn) - VUS g.30956910G>A - ASXL1(NM_015338.5):c.236G>A (p.S79N) - ASXL1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.252+11T>C r.(=) p.(=) - likely benign g.30956937T>C g.32369134T>C ASXL1(NM_015338.5):c.252+11T>C - ASXL1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.314C>T r.(?) p.(Thr105Met) - VUS g.31015992C>T g.32428189C>T ASXL1(NM_015338.5):c.314C>T (p.T105M) - ASXL1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.374-9C>T r.(=) p.(=) - likely benign g.31016119C>T g.32428316C>T ASXL1(NM_015338.5):c.374-9C>T - ASXL1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.374-9C>T r.(=) p.(=) - benign g.31016119C>T g.32428316C>T ASXL1(NM_015338.5):c.374-9C>T - ASXL1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.374-9C>T r.(=) p.(=) - benign g.31016119C>T g.32428316C>T ASXL1(NM_015338.5):c.374-9C>T - ASXL1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.450C>T r.(?) p.(Asp150=) - likely benign g.31016204C>T g.32428401C>T ASXL1(NM_015338.5):c.450C>T (p.D150=) - ASXL1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.472-22T>C r.(=) p.(=) - benign g.31017119T>C g.32429316T>C ASXL1(NM_015338.5):c.472-22T>C - ASXL1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.472-2A>G r.spl? p.? - VUS g.31017139A>G g.32429336A>G - - ASXL1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.540C>T r.(?) p.(Asn180=) - benign g.31017209C>T g.32429406C>T ASXL1(NM_015338.5):c.540C>T (p.N180=) - ASXL1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.572C>T r.(?) p.(Ser191Leu) - likely benign g.31017710C>T g.32429907C>T ASXL1(NM_015338.5):c.572C>T (p.(Ser191Leu)) - ASXL1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.582C>T r.(?) p.(His194=) - benign g.31017720C>T g.32429917C>T - - ASXL1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.764C>T r.(?) p.(Pro255Leu) - VUS g.31019169C>T g.32431366C>T - - ASXL1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.883-2A>G r.spl? p.? - VUS g.31019384A>G g.32431581A>G - - ASXL1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.947C>T r.(?) p.(Ala316Val) - VUS g.31019450C>T g.32431647C>T - - ASXL1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.1117C>T r.(?) p.(Gln373*) ACMG pathogenic (dominant) g.31021118C>T g.32433315C>T - - ASXL1_000106 - PubMed: Helbig 2016 - - De novo - - - 0 - Johan den Dunnen
+?/. - c.1129C>T r.(?) p.(Gln377*) - likely pathogenic (dominant) g.31021130C>T g.32433327C>T - - ASXL1_000108 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.1175C>A r.(?) p.(Ser392Ter) - pathogenic g.31021176C>A g.32433373C>A - - ASXL1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 12 c.1210C>T r.(?) p.(Arg404*) - pathogenic g.31021211C>T g.32433408C>T - - ASXL1_000002 de novo, in patient PubMed: Hoischen 2011 - - De novo - 1/13 cases - 0 - Gerard C.P. Schaafsma
+/. - c.1210C>T r.(?) p.(Arg404Ter) - pathogenic g.31021211C>T g.32433408C>T - - ASXL1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 12 c.1210C>T r.(?) p.(Arg404*) ACMG pathogenic g.31021211C>T g.32433408C>T - - ASXL1_000002 - PubMed: Tumienė 2018 - - De novo - - - 0 - Johan den Dunnen
+/. - c.1283_1284del r.(?) p.(Gln428ArgfsTer9) - pathogenic g.31021284_31021285del g.32433481_32433482del ASXL1(NM_015338.5):c.1283_1284delAG (p.Q428Rfs*9) - ASXL1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1429G>C r.(?) p.(Glu477Gln) - likely benign g.31021430G>C g.32433627G>C ASXL1(NM_015338.5):c.1429G>C (p.(Glu477Gln)) - ASXL1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1544_1545del r.(?) p.(Val515Glyfs*13) ACMG pathogenic (dominant) g.31021545_31021546del g.32433742_32433743del 1544_1545delTG - ASXL1_000063 - PubMed: Helbig 2016 - - De novo - - - 0 - Johan den Dunnen
+/. - c.1762C>T r.(?) p.(Gln588Ter) - pathogenic g.31022277C>T g.32434474C>T - - ASXL1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.1859G>A r.(?) p.(Arg620His) - VUS g.31022374G>A - ASXL1(NM_015338.5):c.1859G>A (p.R620H) - ASXL1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1907C>T r.(?) p.(Ala636Val) - likely benign g.31022422C>T g.32434619C>T ASXL1(NM_015338.5):c.1907C>T (p.(Ala636Val), p.A636V) - ASXL1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1907C>T r.(?) p.(Ala636Val) - likely benign g.31022422C>T - ASXL1(NM_015338.5):c.1907C>T (p.(Ala636Val), p.A636V) - ASXL1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1927G>T r.(?) p.(Gly643Trp) - likely benign g.31022442G>T g.32434639G>T ASXL1(NM_015338.5):c.1927G>T (p.G643W) - ASXL1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1934dup r.(?) p.(Gly646TrpfsTer12) - likely benign g.31022449dup g.32434646dup ASXL1(NM_015338.5):c.1926_1927insG (p.(Gly646TrpfsTer12)) - ASXL1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1954G>A r.(?) p.(Gly652Ser) - benign g.31022469G>A g.32434666G>A ASXL1(NM_015338.5):c.1954G>A (p.G652S) - ASXL1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1954G>A r.(?) p.(Gly652Ser) - likely benign g.31022469G>A g.32434666G>A ASXL1(NM_015338.5):c.1954G>A (p.G652S) - ASXL1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1965C>T r.(?) p.(Thr655=) - likely benign g.31022480C>T g.32434677C>T ASXL1(NM_015338.5):c.1965C>T (p.T655=) - ASXL1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.1981A>T r.(?) p.(Arg661Ter) - pathogenic g.31022496A>T g.32434693A>T - - ASXL1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.2064G>A r.(?) p.(Thr688=) - likely benign g.31022579G>A g.32434776G>A ASXL1(NM_015338.5):c.2064G>A (p.T688=) - ASXL1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2110G>A r.(?) p.(Gly704Arg) - likely benign g.31022625G>A - ASXL1(NM_015338.5):c.2110G>A (p.G704R) - ASXL1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2127C>T r.(?) p.(Ala709=) - likely benign g.31022642C>T g.32434839C>T ASXL1(NM_015338.5):c.2127C>T (p.A709=) - ASXL1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 13 c.2197C>T r.(?) p.(Gln733*) - pathogenic g.31022712C>T g.32434909C>T - - ASXL1_000005 de novo, in patient PubMed: Hoischen 2011 - - De novo - 1/13 cases - 0 - Gerard C.P. Schaafsma
-?/. - c.2250C>T r.(?) p.(Pro750=) - likely benign g.31022765C>T g.32434962C>T ASXL1(NM_015338.5):c.2250C>T (p.(=)) - ASXL1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.2317G>T r.(?) p.(Glu773Ter) - pathogenic g.31022832G>T g.32435029G>T - - ASXL1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.2324T>G r.(?) p.(Leu775Ter) - pathogenic g.31022839T>G g.32435036T>G - - ASXL1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 13 c.2332C>T r.(?) p.(Gln778*) - pathogenic g.31022847C>T g.32435044C>T - - ASXL1_000007 de novo, in patient PubMed: Hoischen 2011 - - De novo - 1/13 cases - 0 - Gerard C.P. Schaafsma
-?/. - c.2337T>G r.(?) p.(Pro779=) - likely benign g.31022852T>G g.32435049T>G ASXL1(NM_015338.5):c.2337T>G (p.P779=) - ASXL1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.2372_2373del r.(?) p.(Ser791TrpfsTer8) - pathogenic g.31022887_31022888del g.32435084_32435085del - - ASXL1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.2395G>T r.(?) p.(Asp799Tyr) - benign g.31022910G>T g.32435107G>T ASXL1(NM_015338.5):c.2395G>T (p.D799Y) - ASXL1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.2444= r.(=) p.(Pro815=) - benign g.31022959T>C g.32435156= ASXL1(NM_015338.5):c.2444T>C (p.L815P) - ASXL1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.2444= r.(=) p.(Pro815=) - benign g.31022959T>C g.32435156= ASXL1(NM_015338.5):c.2444T>C (p.L815P) - ASXL1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 13 c.2468T>G r.(?) p.(Leu823*) - pathogenic g.31022983T>G g.32435180T>G - - ASXL1_000006 de novo, in patient PubMed: Hoischen 2011 - - De novo - 1/13 cases - 0 - Gerard C.P. Schaafsma
-/. - c.2513A>G r.(?) p.(Lys838Arg) - benign g.31023028A>G g.32435225A>G - - ASXL1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.2526T>C r.(?) p.(Asn842=) - likely benign g.31023041T>C g.32435238T>C ASXL1(NM_015338.5):c.2526T>C (p.N842=) - ASXL1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 13 c.2535dup r.(?) p.(Ser846Glnfs*5) - pathogenic g.31023050dup g.32435247dup - - ASXL1_000004 de novo, in patient PubMed: Hoischen 2011 - - De novo - 1/13 cases - 0 - Gerard C.P. Schaafsma
-?/. - c.2544A>T r.(?) p.(Thr848=) - likely benign g.31023059A>T g.32435256A>T ASXL1(NM_015338.5):c.2544A>T (p.T848=) - ASXL1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2618C>T r.(?) p.(Pro873Leu) - likely benign g.31023133C>T g.32435330C>T ASXL1(NM_015338.5):c.2618C>T (p.P873L) - ASXL1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 13 c.2773C>T r.(?) p.(Gln925*) - pathogenic g.31023288C>T g.32435485C>T - - ASXL1_000001 de novo, in patient PubMed: Hoischen 2011 - - De novo - 1/13 cases - 0 - Gerard C.P. Schaafsma
+/. - c.2893C>T r.(?) p.(Arg965Ter) - pathogenic g.31023408C>T g.32435605C>T - - ASXL1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.2957A>G r.(?) p.(Asn986Ser) - likely benign g.31023472A>G g.32435669A>G ASXL1(NM_015338.5):c.2957A>G (p.N986S) - ASXL1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.2985C>T r.(?) p.(His995=) - benign g.31023500C>T g.32435697C>T ASXL1(NM_015338.5):c.2985C>T (p.H995=) - ASXL1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.2985C>T r.(?) p.(His995=) - benign g.31023500C>T g.32435697C>T ASXL1(NM_015338.5):c.2985C>T (p.H995=) - ASXL1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 13 c.3083C>A r.(?) p.(Ser1028*) - pathogenic g.31023598C>A g.32435795C>A - - ASXL1_000003 de novo, in patient PubMed: Hoischen 2011 - - De novo - 1/13 cases - 0 - Gerard C.P. Schaafsma
+/. - c.3201_3202del r.(?) p.(Arg1068SerfsTer18) - pathogenic g.31023716_31023717del g.32435913_32435914del ASXL1(NM_015338.5):c.3201_3202delTC (p.R1068Sfs*18) - ASXL1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.3202C>T r.(?) p.(Arg1068Ter) - likely pathogenic g.31023717C>T g.32435914C>T - - ASXL1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.3274G>A r.(?) p.(Val1092Met) - likely benign g.31023789G>A g.32435986G>A ASXL1(NM_015338.5):c.3274G>A (p.V1092M) - ASXL1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.3306G>T r.(?) p.(Glu1102Asp) - benign g.31023821G>T g.32436018G>T ASXL1(NM_015338.5):c.3306G>T (p.E1102D) - ASXL1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.3306G>T r.(?) p.(Glu1102Asp) - benign g.31023821G>T g.32436018G>T ASXL1(NM_015338.5):c.3306G>T (p.E1102D) - ASXL1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.3306G>T r.(?) p.(Glu1102Asp) - likely benign g.31023821G>T g.32436018G>T - - ASXL1_000034 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs139115934 Germline - 3/2795 individuals - 0 - Mohammed Faruq
-?/. - c.3384C>T r.(?) p.(Asp1128=) - likely benign g.31023899C>T g.32436096C>T ASXL1(NM_015338.5):c.3384C>T (p.D1128=) - ASXL1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.3449G>T r.(?) p.(Gly1150Val) - likely benign g.31023964G>T g.32436161G>T ASXL1(NM_015338.5):c.3449G>T (p.(Gly1150Val)) - ASXL1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3482T>C r.(?) p.(Met1161Thr) - likely benign g.31023997T>C g.32436194T>C ASXL1(NM_015338.5):c.3482T>C (p.M1161T) - ASXL1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.3498C>G r.(?) p.(Ser1166Arg) - benign g.31024013C>G g.32436210C>G ASXL1(NM_015338.5):c.3498C>G (p.S1166R) - ASXL1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.3513G>A r.(?) p.(Arg1171=) - benign g.31024028G>A g.32436225G>A ASXL1(NM_015338.5):c.3513G>A (p.R1171=) - ASXL1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.3513G>A r.(?) p.(Arg1171=) - benign g.31024028G>A g.32436225G>A ASXL1(NM_015338.5):c.3513G>A (p.R1171=) - ASXL1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.3519G>A r.(?) p.(Leu1173=) - benign g.31024034G>A g.32436231G>A ASXL1(NM_015338.5):c.3519G>A (p.L1173=) - ASXL1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.3519G>A r.(?) p.(Leu1173=) - likely benign g.31024034G>A g.32436231G>A ASXL1(NM_015338.5):c.3519G>A (p.L1173=) - ASXL1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.3596_3606del r.(?) p.(Ala1199GlufsTer9) - pathogenic g.31024111_31024121del - ASXL1(NM_015338.5):c.3596_3606delCACCCCAAAAG (p.A1199Efs*9) - ASXL1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.3635C>T r.(?) p.(Ser1212Phe) - likely pathogenic g.31024150C>T g.32436347C>T - - ASXL1_000096 13 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs542568224 Germline - 13/2795 individuals - 0 - Mohammed Faruq
-?/. - c.3642T>G r.(?) p.(His1214Gln) - likely benign g.31024157T>G g.32436354T>G ASXL1(NM_015338.5):c.3642T>G (p.(His1214Gln)) - ASXL1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.3642_3645del r.(?) p.(His1214Glnfs*2) - pathogenic g.31024157_31024160del g.32436354_32436357del - - ASXL1_000082 - - - - Unknown - - - 0 - IMGAG
?/. - c.3664T>G r.(?) p.(Ser1222Ala) - VUS g.31024179T>G g.32436376T>G ASXL1(NM_015338.5):c.3664T>G (p.(Ser1222Ala)) - ASXL1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.3692C>T r.(?) p.(Ser1231Phe) - VUS g.31024207C>T g.32436404C>T ASXL1(NM_015338.5):c.3692C>T (p.S1231F) - ASXL1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.3692C>T r.(?) p.(Ser1231Phe) - benign g.31024207C>T g.32436404C>T ASXL1(NM_015338.5):c.3692C>T (p.S1231F) - ASXL1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.3745A>G r.(?) p.(Met1249Val) - likely benign g.31024260A>G g.32436457A>G ASXL1(NM_015338.5):c.3745A>G (p.M1249V, p.(Met1249Val)) - ASXL1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.3745A>G r.(?) p.(Met1249Val) - likely benign g.31024260A>G g.32436457A>G ASXL1(NM_015338.5):c.3745A>G (p.M1249V, p.(Met1249Val)) - ASXL1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.3759T>C r.(?) p.(Ser1253=) - benign g.31024274T>C g.32436471T>C ASXL1(NM_015338.5):c.3759T>C (p.S1253=) - ASXL1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.3759T>C r.(?) p.(Ser1253=) - benign g.31024274T>C g.32436471T>C ASXL1(NM_015338.5):c.3759T>C (p.S1253=) - ASXL1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.3759T>C r.(?) p.(Ser1253=) - benign g.31024274T>C g.32436471T>C ASXL1(NM_015338.5):c.3759T>C (p.S1253=) - ASXL1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. 12 c.3856C>T r.(?) p.(Gln1286*) - likely pathogenic g.31024371C>T g.32436568C>T - - ASXL1_000083 - - - - De novo - - - 0 - Cristina Gervasini
?/. - c.3869C>T r.(?) p.(Ala1290Val) - VUS g.31024384C>T g.32436581C>T ASXL1(NM_015338.5):c.3869C>T (p.A1290V) - ASXL1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.3910C>G r.(?) p.(Leu1304Val) - likely benign g.31024425C>G g.32436622C>G ASXL1(NM_015338.5):c.3910C>G (p.(Leu1304Val)) - ASXL1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.3935C>T r.(?) p.(Ala1312Val) - likely benign g.31024450C>T g.32436647C>T ASXL1(NM_015338.5):c.3935C>T (p.A1312V) - ASXL1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.3939C>T r.(?) p.(Thr1313=) - likely benign g.31024454C>T g.32436651C>T ASXL1(NM_015338.5):c.3939C>T (p.T1313=) - ASXL1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3947_3948delinsTT r.(?) p.(Arg1316Leu) - VUS g.31024462_31024463delinsTT g.32436659_32436660delinsTT ASXL1(NM_015338.5):c.3947_3948delGCinsTT (p.R1316L) - ASXL1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.3949C>A r.(?) p.(Pro1317Thr) - VUS g.31024464C>A g.32436661C>A ASXL1(NM_015338.5):c.3949C>A (p.P1317T) - ASXL1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.3973C>T r.(?) p.(Leu1325Phe) - benign g.31024488C>T g.32436685C>T ASXL1(NM_015338.5):c.3973C>T (p.L1325F) - ASXL1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.3973C>T r.(?) p.(Leu1325Phe) - benign g.31024488C>T g.32436685C>T ASXL1(NM_015338.5):c.3973C>T (p.L1325F) - ASXL1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.4060G>T r.(?) p.(Glu1354Ter) - likely pathogenic g.31024575G>T g.32436772G>T - - ASXL1_000112 - PubMed: Srivastava 2014 - - De novo - - - 0 - Johan den Dunnen
-?/. - c.4174C>T r.(?) p.(Pro1392Ser) - likely benign g.31024689C>T g.32436886C>T ASXL1(NM_015338.5):c.4174C>T (p.P1392S) - ASXL1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.4183C>G r.(?) p.(Leu1395Val) - likely benign g.31024698C>G g.32436895C>G ASXL1(NM_015338.5):c.4183C>G (p.L1395V) - ASXL1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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