All transcript variants in gene KMT2A

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

216 entries on 3 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     
+/. 11i c.? r.? p.? - pathogenic g.[NC_000023.10:pter_48958100]delins118359082_qterinv - - t(X;11)(p11.2;q23) KMT2A_000208 - PubMed: Brassesco 2018 - - DUPLICATE record - - - 0 - Johan den Dunnen
+/. 9i c.? r.? p.? - pathogenic g.118353384_qterdelins[NC_000017.10:36871301_qter] - - t(11;17)(q23;q12) KMT2A_000209 - PubMed: Brassesco 2018 - - Somatic - - - 0 - Johan den Dunnen
+/. 9i_11i c.? r.? p.? - pathogenic g.[NC_000017.10:36871301_qter]delins[118353384_118359081;NC_000023.10:pter_48958100inv] - - t(X;11;17)(p11.2;q23;q12) KMT2A_000208 - PubMed: Brassesco 2018 - - DUPLICATE record - - - 0 - Johan den Dunnen
?/. - c.23G>C r.(?) p.(Arg8Pro) - VUS g.118307250G>C g.118436535G>C KMT2A(NM_001197104.1):c.23G>C (p.R8P) - KMT2A_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.89C>G r.(?) p.(Ala30Gly) - benign g.118307316C>G g.118436601C>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 r.(?) p.(Ala30Gly) - likely benign g.118307316C>G g.118436601C>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) - pathogenic g.118307379_118307413del g.118436664_118436698del - - KMT2A_000025 - - - - De novo yes - - 0 - Anjali Aggarwal
+/. - c.269C>A r.(?) p.(Ser90Ter) - pathogenic g.118307496C>A g.118436781C>A - - KMT2A_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 1i_10i c.(432+1_433-1)_(4332+1_4333-1)del r.(del) p.? - pathogenic 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) - VUS g.118339493G>A g.118468778G>A - - KMT2A_000037 - - - - Unknown ? - - 0 - Thierry Bienvenu
-/. - c.441A>G r.(?) p.(Gln147=) - benign g.118339498A>G g.118468783A>G KMT2A(NM_001197104.1):c.441A>G (p.Q147=) - KMT2A_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.488C>G r.(?) p.(Thr163Arg) - likely benign g.118339545C>G g.118468830C>G KMT2A(NM_001197104.1):c.488C>G (p.(Thr163Arg)) - KMT2A_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.553C>T r.(?) p.(Arg185Ter) - pathogenic g.118342427C>T g.118471712C>T KMT2A(NM_001197104.1):c.553C>T (p.R185*) - KMT2A_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 3 c.553C>T r.(?) p.(Arg185*) - pathogenic (dominant) g.118342427C>T g.118471712C>T - - KMT2A_000053 - - - - De novo - - - 0 - Cristina Gervasini
-?/. - c.642T>C r.(?) p.(Asp214=) - likely benign g.118342516T>C g.118471801T>C KMT2A(NM_001197104.1):c.642T>C (p.D214=) - KMT2A_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.692T>G r.(?) p.(Val231Gly) - VUS g.118342566T>G g.118471851T>G KMT2A(NM_001197104.1):c.692T>G (p.(Val231Gly)) - KMT2A_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+?/. 3 c.838C>A r.(?) p.(Pro280Thr) - likely pathogenic 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) - VUS g.118342727T>C g.118472012T>C - - KMT2A_000038 - - - - Germline/De novo (untested) ? - - 0 - Thierry Bienvenu
?/. - c.881G>T r.(?) p.(Arg294Met) ACMG VUS g.118342755G>T g.118472040G>T - - KMT2A_000206 ACMG grading: PM2,PP3 - - - Germline - - - 0 - Andreas Laner
+/. - c.931del r.(?) p.(Arg311GlyfsTer2) - - g.118342805del - KMT2A(NM_001197104.1):c.931delA (p.R311Gfs*2) - chr11_006586 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 3 c.1038del r.(?) p.(Val347Leufs*53) - likely pathogenic g.118342912del g.118472197del - - KMT2A_000019 - PubMed: Miyake 2015 - - De novo - - - 0 - Guorui Hu
+/. - c.1048C>T r.(?) p.(Gln350Ter) - pathogenic g.118342922C>T g.118472207C>T - - KMT2A_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.1128dup r.(?) p.(Gln377ThrfsTer12) - pathogenic g.118343002dup g.118472287dup KMT2A(NM_001197104.1):c.1128dupA (p.Q377Tfs*12) - KMT2A_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 3 c.1167del r.(?) p.(Glu390Lysfs*10) - pathogenic (dominant) g.118343041del g.118472326del g.118343041-118343044del - KMT2A_000130 - - - - De novo yes - - 0 - Jinxiu Liu
-?/. - c.1504G>A r.(?) p.(Glu502Lys) - likely benign g.118343378G>A g.118472663G>A KMT2A(NM_001197104.1):c.1504G>A (p.E502K) - KMT2A_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1509G>C r.(?) p.(Arg503=) - - g.118343383G>C - KMT2A(NM_001197104.1):c.1509G>C (p.R503=) - chr11_006587 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1519C>T r.(?) p.(Pro507Ser) - likely benign g.118343393C>T g.118472678C>T KMT2A(NM_001197104.1):c.1519C>T (p.P507S) - KMT2A_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.1585A>T r.(?) p.(Arg529Ter) - pathogenic g.118343459A>T g.118472744A>T - - KMT2A_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1588dup r.(?) p.(Arg530Lysfs*12) ACMG pathogenic g.118343462dup g.118472747dup 1588dupA - KMT2A_000196 - - - - De novo - - - 0 - Stefano Giuseppe Caraffi
?/. 3 c.1697_1717dup r.(?) p.(Leu566_Leu572dup) - VUS g.118343571_118343591dup g.118472856_118472876dup 1692_1693insCTGCTGACTCCACCGCCACCA - KMT2A_000186 - - - - Germline/De novo (untested) - - - 0 - Cristina Gervasini
+?/. - c.1918_1939del r.(?) p.(Glu640TyrfsTer10) - likely pathogenic g.118343792_118343813del g.118473077_118473098del - - KMT2A_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2004T>G r.(?) p.(Ser668=) - likely benign g.118343878T>G g.118473163T>G KMT2A(NM_001197104.1):c.2004T>G (p.S668=) - KMT2A_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. - c.2123_2127delinsA r.(?) p.(His708Glnfs*7) - pathogenic g.118343997_118344001delACTinsA g.118473282_118473286delinsA - - KMT2A_000005 Variant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message. PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
+?/. 3 c.2148del r.(?) p.(Leu717Cysfs*39) - likely pathogenic g.118344022del g.118473307del 2148delC - KMT2A_000020 - PubMed: Miyake 2015 - - De novo - - - 0 - Guorui Hu
+/. - c.2193del r.(?) p.(Ser732Profs*24) ACMG pathogenic (dominant) g.118344067del g.118473352del 2193delA - KMT2A_000210 - PubMed: Helbig 2016 - - De novo - - - 0 - Johan den Dunnen
+?/. 3 c.2233C>T r.(?) p.(Arg745*) - likely pathogenic g.118344107C>T g.118473392C>T C2233T - KMT2A_000021 - PubMed: Yuan 2015 - - De novo - - - 0 - Guorui Hu
+/. - c.2255dup r.(?) p.(His753Serfs*11) ACMG pathogenic (dominant) g.118344129dup g.118473414dup 2255dupC - KMT2A_000211 - PubMed: Helbig 2016 - - De novo - - - 0 - Johan den Dunnen
+/. - c.2262del r.(?) p.(Met755*) ACMG pathogenic (dominant) g.118344136del g.118473421del 2262delC - KMT2A_000212 - PubMed: Helbig 2016 - - De novo - - - 0 - Johan den Dunnen
+/. - c.2318dup r.(?) p.(Ser774ValfsTer12) - pathogenic g.118344192dup g.118473477dup KMT2A(NM_001197104.1):c.2318dupC (p.S774Vfs*12) - KMT2A_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.2318dup r.(?) p.(Ser774Valfs*12) ACMG pathogenic g.118344192dup g.118473477dup 2318dupC - KMT2A_000140 - - - - De novo - - - 0 - Stefano Giuseppe Caraffi
?/. 3 c.2455C>T r.(?) p.(Gln819*) - VUS g.118344329C>T g.118473614C>T - - KMT2A_000024 - - - - De novo yes - - 0 - Guorui Hu
?/. 3 c.2476C>T r.(?) p.(Pro826Ser) - VUS g.118344350C>T g.118473635C>T - - KMT2A_000039 - - - - Germline/De novo (untested) ? - - 0 - Thierry Bienvenu
-?/. - c.2478A>G r.(?) p.(Pro826=) - - g.118344352A>G - KMT2A(NM_001197104.1):c.2478A>G (p.P826=) - chr11_006588 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.2513G>A r.(?) p.(Trp838*) - pathogenic (dominant) g.118344387G>A g.118473672G>A - - KMT2A_000191 - - - - De novo - - - 0 - Stefano Giuseppe Caraffi
./. - c.2659G>T r.(?) p.(Glu887*) - pathogenic g.118344533G>T g.118473818G>T - - KMT2A_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
-?/. - c.2825G>A r.(?) p.(Gly942Glu) - likely benign g.118344699G>A g.118473984G>A KMT2A(NM_001197104.1):c.2825G>A (p.G942E) - KMT2A_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3002A>G r.(?) p.(His1001Arg) - VUS g.118344876A>G g.118474161A>G - - KMT2A_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.3157G>A r.(?) p.(Gly1053Ser) - VUS g.118347520G>A g.118476805G>A KMT2A(NM_001197104.1):c.3157G>A (p.G1053S) - KMT2A_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.3190C>T r.(?) p.(Arg1064Ter) - pathogenic g.118347553C>T g.118476838C>T - - KMT2A_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 4 c.3247C>T r.(?) p.(Arg1083*) - pathogenic g.118347610C>T g.118476895C>T - - KMT2A_000015 - PubMed: Dunkerton 2015 - - De novo - - - 0 - Guorui Hu
+/. 4 c.3247C>T r.(?) p.(Arg1083*) - pathogenic g.118347610C>T g.118476895C>T - - KMT2A_000015 - PubMed: Dunkerton 2015 - - De novo - - - 0 - Guorui Hu
-/. - c.3291A>G r.(?) p.(Pro1097=) - benign g.118347654A>G g.118476939A>G KMT2A(NM_001197104.1):c.3291A>G (p.P1097=) - KMT2A_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.3291A>G r.(?) p.(Pro1097=) - benign g.118347654A>G g.118476939A>G KMT2A(NM_001197104.1):c.3291A>G (p.P1097=) - KMT2A_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.3301C>T r.(?) p.(Arg1101Ter) - pathogenic g.118347664C>T g.118476949C>T KMT2A(NM_001197104.1):c.3301C>T (p.R1101*) - KMT2A_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.3334+1G>A r.spl p.? - pathogenic g.118347698G>A g.118476983G>A - - KMT2A_000049 - - - - De novo yes - - 0 - Bernt Popp
+/. - c.3334+1G>A r.spl? p.? - pathogenic g.118347698G>A g.118476983G>A - - KMT2A_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.3340del r.(?) p.(Ser1114HisfsTer33) - pathogenic g.118348687del - - - KMT2A_000213 - - - - Unknown - - - 0 - IMGAG
+/. - c.3375del r.(?) p.(Ala1126LeufsTer21) - pathogenic g.118348722del g.118478007del - - KMT2A_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.3386T>C r.(?) p.(Ile1129Thr) - likely benign g.118348733T>C g.118478018T>C - - KMT2A_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.3451C>T r.(?) p.(Arg1151Ter) - pathogenic g.118348798C>T g.118478083C>T - - KMT2A_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.3455C>A r.(?) p.(Ser1152Ter) - likely pathogenic g.118348802C>A g.118478087C>A - - KMT2A_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 5 c.3460C>T r.(3460c>u) p.(Arg1154Trp) - pathogenic g.118348807C>T g.118478092C>T - - KMT2A_000034 - - - - De novo - 1/200 patients - 0 - Thierry Bienvenu
+/. - c.3460C>T r.(?) p.(Arg1154Trp) ACMG pathogenic g.118348807C>T g.118478092C>T - - KMT2A_000034 - - - - De novo - - - 0 - Stefano Giuseppe Caraffi
+?/. - c.3473G>A r.(?) p.(Cys1158Tyr) ACMG likely pathogenic g.118348820G>A g.118478105G>A - - KMT2A_000030 - Trujillano et al., submitted - - De novo - - - 0 - Daniel Trujillano
+?/. 5 c.3481T>G r.(?) p.(Cys1161Gly) - likely pathogenic g.118348828T>G g.118478113T>G - - KMT2A_000026 - PubMed: Stellacci 2016 - - De novo - - - 0 - Guorui Hu
+?/. - c.3503G>A r.(?) p.(Gly1168Asp) - likely pathogenic g.118348850G>A g.118478135G>A KMT2A(NM_001197104.1):c.3503G>A (p.G1168D) - KMT2A_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.3521T>G r.3521u>g p.(Leu1174*) - pathogenic (dominant) g.118348868T>G g.118478153T>G - - KMT2A_000199 - PubMed: Lee 2019 ClinVar-000746574.1 - De novo - - - 0 - Johan den Dunnen
+?/. 5 c.3566G>A r.(?) p.(Cys1189Tyr) - likely pathogenic g.118348913G>A g.118478198G>A - - KMT2A_000018 - PubMed: Miyake 2015 - - De novo - - - 0 - Guorui Hu
+/. - c.3567C>A r.(?) p.(Cys1189Ter) - pathogenic g.118348914C>A g.118478199C>A - - KMT2A_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 6 c.3581G>A r.(3581g>a) p.(Cys1194Tyr) - pathogenic g.118350900G>A g.118480185G>A - - KMT2A_000036 - - - - De novo - - - 0 - Thierry Bienvenu
+/. 6 c.3596G>A r.(?) p.(Trp1199*) - pathogenic (dominant) g.118350915G>A g.118480200G>A - - KMT2A_000187 - - - - De novo - - - 0 - Cristina Gervasini
+/. 6 c.3604del r.(?) p.(Ser1202Profs*12) - pathogenic (dominant) g.118350923del g.118480208del 3603delT - KMT2A_000188 - - - - De novo - - - 0 - Cristina Gervasini
?/. - c.3613T>C r.(?) p.(Tyr1205His) - VUS g.118350932T>C g.118480217T>C - - KMT2A_000121 - - - - Unknown - - - 0 - IMGAG
+/. 6 c.3633_3634+3del r.spl p.? - pathogenic (dominant) g.118350952_118350956del g.118480237_118480241del 3632_3634+2delAAGgt - KMT2A_000189 - - - - De novo - - - 0 - Cristina Gervasini
-?/. - c.3639G>A r.(?) p.(Val1213=) - likely benign g.118352434G>A g.118481719G>A KMT2A(NM_001197104.1):c.3639G>A (p.V1213=) - KMT2A_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3656A>G r.(?) p.(Lys1219Arg) - VUS g.118352451A>G g.118481736A>G - - KMT2A_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.3684C>T r.(?) p.(Ser1228=) - likely benign g.118352479C>T g.118481764C>T KMT2A(NM_001197104.1):c.3684C>T (p.S1228=) - KMT2A_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.3790C>T r.(?) p.(Arg1264Ter) - pathogenic g.118352585C>T g.118481870C>T KMT2A(NM_001197104.1):c.3790C>T (p.R1264*) - KMT2A_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.3801C>T r.(?) p.(Val1267=) - likely benign g.118352596C>T g.118481881C>T KMT2A(NM_001197104.1):c.3801C>T (p.V1267=) - KMT2A_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. 7 c.3902_3905dup r.(?) p.(Leu1303Serfs*24) - likely pathogenic g.118352697_118352700dup g.118481982_118481985dup 3897_3900dupCCAG - KMT2A_000190 - - - - Germline/De novo (untested) - - - 0 - Cristina Gervasini
+/. - c.3922C>T r.(?) p.(Gln1308Ter) - pathogenic g.118352717C>T g.118482002C>T KMT2A(NM_001197104.1):c.3922C>T (p.Q1308*) - KMT2A_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.3933dup r.(?) p.(Thr1312Tyrfs*14) - pathogenic g.118352728dup g.118482013dup 3933dupT - KMT2A_000120 - - - - Unknown - - - 0 - IMGAG
?/. - c.3998C>T r.(?) p.(Pro1333Leu) - VUS g.118352793C>T g.118482078C>T KMT2A(NM_001197104.1):c.3998C>T (p.P1333L) - KMT2A_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 8 c.4052C>T r.(4052c>u) p.(Pro1351Leu) - VUS g.118353176C>T g.118482461C>T - - KMT2A_000040 - - - - Germline no - - 0 - Thierry Bienvenu
?/. - c.4054A>G r.(?) p.(Ser1352Gly) - VUS g.118353178A>G g.118482463A>G KMT2A(NM_001197104.1):c.4054A>G (p.S1352G) - KMT2A_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 8i c.4086+1G>A r.spl p.? - pathogenic g.118353211G>A g.118482496G>A - - KMT2A_000012 - PubMed: Strom 2014 - - De novo - - - 0 - Guorui Hu
-?/. - c.4086+8G>C r.(=) p.(=) - likely benign g.118353218G>C g.118482503G>C KMT2A(NM_001197104.1):c.4086+8G>C - KMT2A_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.4086+8G>C r.(=) p.(=) - likely benign g.118353218G>C g.118482503G>C KMT2A(NM_001197104.1):c.4086+8G>C - KMT2A_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 8i_15i c.4087-116_5004+245del r.(?) p.(Glu1363_Gln1668del) - pathogenic 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 r.(?) p.(Lys1364Ter) - pathogenic g.118354901A>T g.118484186A>T KMT2A(NM_001197104.1):c.4090A>T (p.K1364*) - KMT2A_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.4189G>T r.(?) p.(Gly1397*) - pathogenic (dominant) g.118355000G>T g.118484285G>T - - KMT2A_000125 - - - - De novo - - - 0 - Thierry Bienvenu
-?/. - c.4218+20A>G r.(=) p.(=) - - g.118355049A>G - KMT2A(NM_001197104.1):c.4218+20A>G (p.(=)) - chr11_006589 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.4254A>T r.(?) p.(Gly1418=) - likely benign g.118355612A>T g.118484897A>T KMT2A(NM_001197104.1):c.4254A>T (p.G1418=) - KMT2A_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.4284A>C r.(?) p.(Ile1428=) - benign g.118355642A>C g.118484927A>C KMT2A(NM_001197104.1):c.4284A>C (p.(=)) - KMT2A_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.4284A>C r.(?) p.(Ile1428=) - benign g.118355642A>C g.118484927A>C KMT2A(NM_001197104.1):c.4284A>C (p.(=)) - KMT2A_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.4294G>T r.(?) p.(Val1432Leu) - likely pathogenic g.118355652G>T g.118484937G>T KMT2A(NM_001197104.1):c.4294G>T (p.V1432L) - KMT2A_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+?/. 11 c.4342T>C r.(?) p.(Cys1448Arg) - likely pathogenic g.118359338T>C g.118488623T>C - - KMT2A_000011 - PubMed: Strom 2014 - - De novo - - - 0 - Guorui Hu
+/. - c.4421G>A r.(?) p.(Trp1474Ter) - pathogenic g.118359417G>A g.118488702G>A - - KMT2A_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.4426T>G r.(?) p.(Cys1476Gly) - likely pathogenic g.118359422T>G g.118488707T>G - - KMT2A_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.4436G>C r.(?) p.(Cys1479Ser) ACMG likely pathogenic g.118359432G>C g.118488717G>C - - KMT2A_000193 - - - - De novo - - - 0 - Stefano Giuseppe Caraffi
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