All transcript variants in gene KMT2A

Information The variants shown are described using the NM_001197104.1 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.23G>C VUS r.(?) p.(Arg8Pro) g.118307250G>C - KMT2A(NM_001197104.1):c.23G>C (p.R8P) - KMT2A_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.89C>G benign r.(?) p.(Ala30Gly) g.118307316C>G - KMT2A(NM_001197104.1):c.89C>G (p.Ala30Gly) - KMT2A_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.89C>G likely benign r.(?) p.(Ala30Gly) g.118307316C>G - KMT2A(NM_001197104.1):c.89C>G (p.Ala30Gly) - KMT2A_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 c.152_186del - r.(?) p.(Pro51Argfs*84) g.118307379_118307413del g.118436664_118436698del - - KMT2A_000025 - - - - De novo yes - - 0 - Anjali Aggarwal
-?/. - c.260C>T likely benign r.(?) p.(Ser87Leu) g.118307487C>T - KMT2A(NM_001197104.1):c.260C>T (p.(Ser87Leu)) - KMT2A_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.269C>A pathogenic r.(?) p.(Ser90*) g.118307496C>A - KMT2A(NM_001197104.1):c.269C>A (p.Ser90*) - KMT2A_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.296C>T likely benign r.(?) p.(Ala99Val) g.118307523C>T - KMT2A(NM_001197104.1):c.296C>T (p.(Ala99Val)) - KMT2A_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 1i_10i c.(432+1_433-1)_(4332+1_4333-1)del - r.(del) p.? g.(118307660_118339489)_(11835569_118359328)del - ex 2-10 deletion - KMT2A_000013 - PubMed: Mendelsohn 2014 - - De novo - - - 0 - Guorui Hu
+/. 2 c.436G>A - r.(436g>a) p.(Glu146Lys) g.118339493G>A g.118468778G>A - - KMT2A_000037 - - - - Unknown ? - - 0 - Thierry Bienvenu
-/. - c.441A>G benign r.(?) p.(=) g.118339498A>G - KMT2A(NM_001197104.1):c.441A>G (p.=) - KMT2A_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.488C>G likely benign r.(?) p.(Thr163Arg) g.118339545C>G - KMT2A(NM_001197104.1):c.488C>G (p.(Thr163Arg)) - KMT2A_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.496C>T likely benign r.(?) p.(Pro166Ser) g.118339553C>T - KMT2A(NM_001197104.1):c.496C>T (p.(Pro166Ser)) - KMT2A_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.553C>T pathogenic r.(?) p.(Arg185*) g.118342427C>T - KMT2A(NM_001197104.1):c.553C>T (p.R185*) - KMT2A_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.642T>C likely benign r.(?) p.(=) g.118342516T>C - KMT2A(NM_001197104.1):c.642T>C (p.D214=) - KMT2A_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.692T>G VUS r.(?) p.(Val231Gly) g.118342566T>G - KMT2A(NM_001197104.1):c.692T>G (p.(Val231Gly)) - KMT2A_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. 3 c.838C>A - r.(?) p.(Pro280Thr) g.118342712C>A g.118471997C>A - - KMT2A_000022 parents not available for analysis PubMed: Miyake 2015 - - Unknown - - - 0 - Johan den Dunnen
-/. 3 c.853T>C - r.(?) p.(Phe285Leu) g.118342727T>C g.118472012T>C - - KMT2A_000038 - - - - Germline/De novo (untested) ? - - 0 - Thierry Bienvenu
+?/. 3 c.1038delA - r.(?) p.(Val347Leufs*53) g.118342912delA g.118472197delA - - KMT2A_000019 - PubMed: Miyake 2015 - - De novo - - - 0 - Guorui Hu
+/. - c.1048C>T pathogenic r.(?) p.(Gln350*) g.118342922C>T - KMT2A(NM_001197104.1):c.1048C>T (p.Gln350*) - KMT2A_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.1128dup pathogenic r.(?) p.(Gln377Thrfs*12) g.118343002dup - KMT2A(NM_001197104.1):c.1128dupA (p.Q377Tfs*12) - KMT2A_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 3 c.1167del pathogenic (dominant) r.(?) p.(Glu390Lysfs*10) g.118343041del - g.118343041-118343044del - KMT2A_000130 - - - - De novo yes - - 0 - Jinxiu Liu
-?/. - c.1490A>G likely benign r.(?) p.(Gln497Arg) g.118343364A>G - KMT2A(NM_001197104.1):c.1490A>G (p.(Gln497Arg)) - KMT2A_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1504G>A likely benign r.(?) p.(Glu502Lys) g.118343378G>A - KMT2A(NM_001197104.1):c.1504G>A (p.(Glu502Lys)) - KMT2A_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1504G>A likely benign r.(?) p.(Glu502Lys) g.118343378G>A - KMT2A(NM_001197104.1):c.1504G>A (p.(Glu502Lys)) - KMT2A_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1519C>T likely benign r.(?) p.(Pro507Ser) g.118343393C>T - KMT2A(NM_001197104.1):c.1519C>T (p.P507S) - KMT2A_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.1585A>T pathogenic r.(?) p.(Arg529*) g.118343459A>T - KMT2A(NM_001197104.1):c.1585A>T (p.Arg529*) - KMT2A_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. - c.2123_2127delinsA - r.(?) p.(His708Glnfs*7) g.118343997_118344001delACTinsA g.118473282_118473286delinsA - - KMT2A_000005 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
+?/. 3 c.2148del - r.(?) p.(Leu717Cysfs*39) g.118344022del g.118473307del 2148delC - KMT2A_000020 - PubMed: Miyake 2015 - - De novo - - - 0 - Guorui Hu
+?/. 3 c.2233C>T - r.(?) p.(Arg745*) g.118344107C>T g.118473392C>T C2233T - KMT2A_000021 - PubMed: Yuan 2015 - - De novo - - - 0 - Guorui Hu
+/. - c.2318dup pathogenic r.(?) p.(Ser774Valfs*12) g.118344192dup - KMT2A(NM_001197104.1):c.2318dupC (p.S774Vfs*12) - KMT2A_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2326G>C likely benign r.(?) p.(Val776Leu) g.118344200G>C - KMT2A(NM_001197104.1):c.2326G>C (p.(Val776Leu)) - KMT2A_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 3 c.2455C>T - r.(?) p.(Gln819*) g.118344329C>T g.118473614C>T - - KMT2A_000024 - - - - De novo yes - - 0 - Guorui Hu
?/. 3 c.2476C>T - r.(?) p.(Pro826Ser) g.118344350C>T g.118473635C>T - - KMT2A_000039 - - - - Germline/De novo (untested) ? - - 0 - Thierry Bienvenu
./. - c.2659G>T - r.(?) p.(Glu887*) g.118344533G>T g.118473818G>T - - KMT2A_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
-?/. - c.2684A>G likely benign r.(?) p.(Lys895Arg) g.118344558A>G - KMT2A(NM_001197104.1):c.2684A>G (p.(Lys895Arg)) - KMT2A_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2797C>T likely benign r.(?) p.(Arg933Trp) g.118344671C>T - KMT2A(NM_001197104.1):c.2797C>T (p.(Arg933Trp)) - KMT2A_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2825G>A likely benign r.(?) p.(Gly942Glu) g.118344699G>A - KMT2A(NM_001197104.1):c.2825G>A (p.G942E) - KMT2A_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.3002A>G VUS r.(?) p.(His1001Arg) g.118344876A>G - KMT2A(NM_001197104.1):c.3002A>G (p.His1001Arg) - KMT2A_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.3190C>T pathogenic r.(?) p.(Arg1064*) g.118347553C>T - KMT2A(NM_001197104.1):c.3190C>T (p.Arg1064*) - KMT2A_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 4 c.3247C>T - r.(?) p.(Arg1083*) g.118347610C>T g.118476895C>T - - KMT2A_000015 - PubMed: Dunkerton 2015 - - De novo - - - 0 - Guorui Hu
+/. 4 c.3247C>T - r.(?) p.(Arg1083*) g.118347610C>T g.118476895C>T - - KMT2A_000015 - PubMed: Dunkerton 2015 - - De novo - - - 0 - Guorui Hu
-/. - c.3291A>G benign r.(?) p.(=) g.118347654A>G - KMT2A(NM_005933.3):c.3291A>G (p.(Pro1097=)) - KMT2A_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.3291A>G benign r.(?) p.(=) g.118347654A>G - KMT2A(NM_005933.3):c.3291A>G (p.(Pro1097=)) - KMT2A_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.3334+1G>A - r.spl p.? g.118347698G>A g.118476983G>A - - KMT2A_000049 - - - - De novo yes - - 0 - Bernt Popp
+/. - c.3334+1G>A pathogenic r.spl? p.? g.118347698G>A - KMT2A(NM_001197104.1):c.3334+1G>A (r.spl?) - KMT2A_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.3386T>C likely benign r.(?) p.(Ile1129Thr) g.118348733T>C - KMT2A(NM_001197104.1):c.3386T>C (p.(Ile1129Thr)) - KMT2A_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.3413A>G likely benign r.(?) p.(Asn1138Ser) g.118348760A>G - KMT2A(NM_001197104.1):c.3413A>G (p.(Asn1138Ser)) - KMT2A_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.3451C>T pathogenic r.(?) p.(Arg1151*) g.118348798C>T - KMT2A(NM_001197104.1):c.3451C>T (p.Arg1151*) - KMT2A_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.3455C>A likely pathogenic r.(?) p.(Ser1152*) g.118348802C>A - KMT2A(NM_001197104.1):c.3455C>A (p.Ser1152*) - KMT2A_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 5 c.3460C>T - r.(3460c>u) p.(Arg1154Trp) g.118348807C>T g.118478092C>T - - KMT2A_000034 - - - - De novo - 1/200 patients - 0 - Thierry Bienvenu
+?/. - c.3473G>A ACMG: 4 r.(?) p.(Cys1158Tyr) g.118348820G>A g.118478105G>A - - KMT2A_000030 - Trujillano et al., submitted - - De novo - - - 0 - Daniel Trujillano
+?/. 5 c.3481T>G - r.(?) p.(Cys1161Gly) g.118348828T>G g.118478113T>G - - KMT2A_000026 - PubMed: Stellacci 2016 - - De novo - - - 0 - Guorui Hu
+?/. - c.3503G>A likely pathogenic r.(?) p.(Gly1168Asp) g.118348850G>A - KMT2A(NM_001197104.1):c.3503G>A (p.G1168D) - KMT2A_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. 5 c.3566G>A - r.(?) p.(Cys1189Tyr) g.118348913G>A g.118478198G>A - - KMT2A_000018 - PubMed: Miyake 2015 - - De novo - - - 0 - Guorui Hu
+/. - c.3567C>A pathogenic r.(?) p.(Cys1189*) g.118348914C>A - KMT2A(NM_001197104.1):c.3567C>A (p.Cys1189*) - KMT2A_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 6 c.3581G>A - r.(3581g>a) p.(Cys1194Tyr) g.118350900G>A g.118480185G>A - - KMT2A_000036 - - - - De novo - - - 0 - Thierry Bienvenu
?/. - c.3613T>C - r.(?) p.(Tyr1205His) g.118350932T>C - - - KMT2A_000121 - - - - Unknown - - - 0 - IMGAG
-?/. - c.3635-7C>T likely benign r.(=) p.(=) g.118352423C>T - KMT2A(NM_001197104.1):c.3635-7C>T (p.(=)) - KMT2A_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.3656A>G VUS r.(?) p.(Lys1219Arg) g.118352451A>G - KMT2A(NM_001197104,1):c.3656A>G (p.(Lys1219Arg)) - KMT2A_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.3790C>T pathogenic r.(?) p.(Arg1264*) g.118352585C>T - KMT2A(NM_001197104.1):c.3790C>T (p.R1264*) - KMT2A_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.3801C>T likely benign r.(?) p.(=) g.118352596C>T - KMT2A(NM_001197104.1):c.3801C>T (p.V1267=) - KMT2A_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.3933dup - r.(?) p.(Thr1312Tyrfs*14) g.118352728dup - 3933dupT - KMT2A_000120 - - - - Unknown - - - 0 - IMGAG
?/. - c.3998C>T VUS r.(?) p.(Pro1333Leu) g.118352793C>T - KMT2A(NM_001197104.1):c.3998C>T (p.P1333L) - KMT2A_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.4049G>A VUS r.(?) p.(Arg1350His) g.118353173G>A - KMT2A(NM_001197104.1):c.4049G>A (p.(Arg1350His)) - KMT2A_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 8 c.4052C>T - r.(4052c>u) p.(Pro1351Leu) g.118353176C>T g.118482461C>T - - KMT2A_000040 - - - - Germline no - - 0 - Thierry Bienvenu
+/. 8i c.4086+1G>A - r.spl p.? g.118353211G>A g.118482496G>A - - KMT2A_000012 - PubMed: Strom 2014 - - De novo - - - 0 - Guorui Hu
-?/. - c.4086+8G>C likely benign r.(=) p.(=) g.118353218G>C - KMT2A(NM_001197104.1):c.4086+8G>C - KMT2A_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 8i_15i c.4087-116_5004+245del - r.(?) p.(Glu1363_Gln1668del) g.118354782_118362888del g.118484067_118492173del - - KMT2A_000002 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
+/. - c.4090A>T pathogenic r.(?) p.(Lys1364*) g.118354901A>T - KMT2A(NM_001197104.1):c.4090A>T (p.K1364*) - KMT2A_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.4189G>T pathogenic (dominant) r.(?) p.(Gly1397*) g.118355000G>T - - - KMT2A_000125 - - - - De novo - - - 0 - Thierry Bienvenu
-?/. - c.4254A>T likely benign r.(?) p.(=) g.118355612A>T - KMT2A(NM_001197104.1):c.4254A>T (p.G1418=) - KMT2A_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.4284A>C benign r.(?) p.(=) g.118355642A>C - KMT2A(NM_001197104.1):c.4284A>C (p.=) - KMT2A_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.4294G>T likely pathogenic r.(?) p.(Val1432Leu) g.118355652G>T - KMT2A(NM_001197104.1):c.4294G>T (p.V1432L) - KMT2A_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. 11 c.4342T>C - r.(?) p.(Cys1448Arg) g.118359338T>C g.118488623T>C - - KMT2A_000011 - PubMed: Strom 2014 - - De novo - - - 0 - Guorui Hu
+/. - c.4421G>A pathogenic r.(?) p.(Trp1474*) g.118359417G>A - KMT2A(NM_001197104.1):c.4421G>A (p.Trp1474*) - KMT2A_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.4426T>G likely pathogenic r.(?) p.(Cys1476Gly) g.118359422T>G - KMT2A(NM_001197104.1):c.4426T>G (p.(Cys1476Gly)) - KMT2A_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 11 c.4456G>A - r.(4456g>a) p.(Gly1486Arg) g.118359452G>A g.118488737G>A - - KMT2A_000041 - - - - Germline/De novo (untested) ? - - 0 - Thierry Bienvenu
+?/. - c.4542C>A likely pathogenic r.(?) p.(Tyr1514*) g.118360569C>A - KMT2A():c.4542C>A (p.Tyr1514*) - KMT2A_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 13 c.4599dup - r.(?) p.(Lys1534*) g.118360867dup g.118490152dup - - KMT2A_000007 - PubMed: Jones 2012, OMIM:var0005 - rs398122881 De novo - 1/6 cases - 0 - Guorui Hu
+/. - c.4635G>C pathogenic r.(?) p.(Trp1545Cys) g.118360903G>C - KMT2A(NM_001197104.1):c.4635G>A (p.Trp1545*) - KMT2A_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.4678G>A VUS r.(?) p.(Ala1560Thr) g.118360946G>A - KMT2A(NM_001197104.1):c.4678G>A (p.A1560T) - KMT2A_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.4696+1G>A pathogenic r.spl? p.? g.118360965G>A - KMT2A(NM_005933.3):c.4696+1G>A - KMT2A_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.4696+1G>T pathogenic r.spl? p.? g.118360965G>T - KMT2A(NM_001197104.1):c.4696+1G>T - KMT2A_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.4696+3A>G VUS r.spl? p.? g.118360967A>G - KMT2A(NM_001197104.1):c.4696+3A>G - KMT2A_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.4716T>A pathogenic r.(?) p.(Cys1572*) g.118361930T>A - KMT2A(NM_001197104.1):c.4716T>A (p.C1572*) - KMT2A_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.4758G>A likely benign r.(?) p.(Met1586Ile) g.118361972G>A - KMT2A(NM_001197104.1):c.4758G>A (p.(Met1586Ile)) - KMT2A_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 15 c.4906C>T - r.(?) p.(Arg1636*) g.118362545C>T g.118491830C>T 4897C>T (R1633*) - KMT2A_000027 - - - - De novo - - - 0 - Guorui Hu
+?/. - c.5251A>T ACMG: 4 r.(?) p.(Lys1751*) g.118365075A>T g.118494360A>T - - KMT2A_000031 - Trujillano et al., submitted - - De novo - - - 0 - Daniel Trujillano
+/. - c.5251A>T pathogenic r.(?) p.(Lys1751*) g.118365075A>T - KMT2A(NM_001197104.1):c.5251A>T (p.K1751*) - KMT2A_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.5289+5A>G likely benign r.spl? p.? g.118365118A>G - KMT2A(NM_001197104.1):c.5289+5A>G - KMT2A_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 18i c.5363+1del likely pathogenic r.spl p.? g.118365483del - 5363+1delG - KMT2A_000128 - - - - De novo - - - 0 - Cristina Gervasini
+/. - c.5431C>T pathogenic r.(?) p.(Arg1811*) g.118366482C>T - KMT2A(NM_001197104.1):c.5431C>T (p.Arg1811*) - KMT2A_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.5431C>T pathogenic r.(?) p.(Arg1811*) g.118366482C>T - KMT2A(NM_001197104.1):c.5431C>T (p.Arg1811*) - KMT2A_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.5558-2A>G likely pathogenic r.spl? p.? g.118366974A>G - KMT2A(NM_001197104.1):c.5558-2A>G (r.spl?) - KMT2A_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.5589G>T VUS r.(?) p.(Glu1863Asp) g.118367007G>T - KMT2A(NM_001197104.1):c.5589G>T (p.(Glu1863Asp), p.(Glu1860Asp)) - KMT2A_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.5679A>G benign r.(?) p.(=) g.118368665A>G - KMT2A(NM_001197104.1):c.5679A>G (p.=) - KMT2A_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.5754C>T likely benign r.(?) p.(=) g.118368740C>T - KMT2A(NM_001197104.1):c.5754C>T (p.D1918=) - KMT2A_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.5794A>T pathogenic r.(?) p.(Lys1932*) g.118368780A>T - KMT2A(NM_001197104.1):c.5794A>T (p.Lys1932*) - KMT2A_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.5806T>C likely pathogenic r.(?) p.(Cys1936Arg) g.118369088T>C - KMT2A(NM_001197104.1):c.5806T>C (p.C1936R) - KMT2A_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.5962-3A>T likely benign r.spl? p.? g.118370015A>T - KMT2A(NM_001197104.1):c.5962-3A>T - KMT2A_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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