All variants in the KMT2A gene

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

433 entries on 5 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5     Next › Last »

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.-3135C>T r.(?) p.(=) - likely benign g.118304093C>T - KMT2A(NM_001197104.2):c.-3135C>T - KMT2A_000378 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 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 - - - - - 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 - - - - - 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 - - - - - 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 - - - - - 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 - - - - Anjali Aggarwal
-?/. - c.158C>T r.(?) p.(Ala53Val) - likely benign g.118307385C>T - KMT2A(NM_001197104.2):c.158C>T (p.(Ala53Val)) - KMT2A_000379 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.175G>A r.(?) p.(Ala59Thr) ACMG VUS g.118307402G>A - - - KMT2A_000221 ACMG grading: BP4,PM2 5y old male individuum - - - Germline - - - - - Andreas Laner
?/. - c.197_202dup r.(?) p.(Ala66_Ala67dup) - VUS g.118307424_118307429dup - KMT2A(NM_001197104.2):c.197_202dup (p.(Ala66_Ala67dup)) - KMT2A_000380 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.200_202dup r.(?) p.(Ala67dup) - likely benign g.118307427_118307429dup - KMT2A(NM_001197104.1):c.200_202dupCGG (p.(Ala67dup)) - KMT2A_000341 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.236C>A r.(?) p.(Ala79Asp) - likely benign g.118307463C>A - KMT2A(NM_001197104.1):c.236C>A (p.(Ala79Asp)) - KMT2A_000342 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.260C>A r.(?) p.(Ser87*) - pathogenic g.118307487C>A - - - KMT2A_000278 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.260C>T r.(?) p.(Ser87Leu) - likely benign g.118307487C>T g.118436772C>T KMT2A(NM_001197104.1):c.260C>T (p.(Ser87Leu)) - KMT2A_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.269C>A r.(?) p.(Ser90Ter) - pathogenic g.118307496C>A g.118436781C>A - - KMT2A_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.281C>A r.(?) p.(Ser94*) ACMG pathogenic g.118307508C>A g.118436793C>A - - KMT2A_000230 - PubMed: Faundes 2018 - - De novo - - - - - Johan den Dunnen
+/. 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 - - - - - Guorui Hu
+/. 2 c.436G>A r.(436g>a) p.(Glu146Lys) - VUS g.118339493G>A g.118468778G>A - - KMT2A_000037 - - - - Unknown ? - - - - Thierry Bienvenu
+/. 2 c.472dup r.(?) p.(Arg158Lysfs*12) ACMG pathogenic g.118339529dup g.118468814dup - - KMT2A_000373 - - ClinVar-3383965 - De novo - - - - - Marketa Wayhelova
-?/. - 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.496C>T r.(?) p.(Pro166Ser) - likely benign g.118339553C>T g.118468838C>T KMT2A(NM_001197104.1):c.496C>T (p.(Pro166Ser)) - KMT2A_000052 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 - - - - - VKGL-NL_Rotterdam
+/. 3 c.553C>T r.(?) p.(Arg185*) - pathogenic (dominant) g.118342427C>T g.118471712C>T - - KMT2A_000053 - PubMed: Di Fede 2021 - - De novo - - - - - Cristina Gervasini
-?/. - c.616T>C r.(?) p.(Ser206Pro) - likely benign g.118342490T>C - KMT2A(NM_001197104.1):c.616T>C (p.(Ser206Pro)) - KMT2A_000343 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - 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.685C>A r.(?) p.(Pro229Thr) - likely benign g.118342559C>A - KMT2A(NM_001197104.1):c.685C>A (p.P229T, p.(Pro229Thr)) - KMT2A_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.685C>A r.(?) p.(Pro229Thr) - likely benign g.118342559C>A - KMT2A(NM_001197104.1):c.685C>A (p.P229T, p.(Pro229Thr)) - KMT2A_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - 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 - - - - - VKGL-NL_Leiden
?/. - c.710A>G r.(?) p.(His237Arg) - VUS g.118342584A>G - KMT2A(NM_001197104.1):c.710A>G (p.(His237Arg)) - KMT2A_000313 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.835T>C r.(?) p.(Ser279Pro) - VUS g.118342709T>C - KMT2A(NM_001197104.2):c.835T>C (p.(Ser279Pro)) - KMT2A_000329 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - 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 - - - - - Johan den Dunnen
-/. 3 c.853T>C r.(?) p.(Phe285Leu) - VUS g.118342727T>C g.118472012T>C - - KMT2A_000038 - - - - Germline/De novo (untested) ? - - - - Thierry Bienvenu
?/. - c.881G>T r.(?) p.(Arg294Met) ACMG VUS g.118342755G>T g.118472040G>T - - KMT2A_000206 ACMG grading: PM2,PP3 - - - Germline - - - - - Andreas Laner
+/. - c.931del r.(?) p.(Arg311GlyfsTer2) - pathogenic g.118342805del - KMT2A(NM_001197104.2):c.931delA (p.R311Gfs*2) - KMT2A_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.992G>C r.(?) p.(Arg331Pro) - likely benign g.118342866G>C - KMT2A(NM_001197104.1):c.992G>C (p.(Arg331Pro)) - KMT2A_000344 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 3 c.1038del r.(?) p.(Val347Leufs*53) - likely pathogenic g.118342912del g.118472197del - - KMT2A_000019 - PubMed: Miyake 2015 - - De novo - - - - - Guorui Hu
+/. - c.1048C>T r.(?) p.(Gln350Ter) - pathogenic g.118342922C>T g.118472207C>T - - KMT2A_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1128dup r.(?) p.(Gln377ThrfsTer12) - pathogenic g.118343002dup - KMT2A(NM_001197104.2):c.1128dupA (p.Q377Tfs*12) - KMT2A_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1136C>G r.(?) p.(Ala379Gly) - VUS g.118343010C>G - KMT2A(NM_001197104.1):c.1136C>G (p.(Ala379Gly)) - KMT2A_000345 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 3 c.1167del r.(?) p.(Glu390Lysfs*10) - pathogenic (dominant) g.118343041del g.118472326del g.118343041-118343044del - KMT2A_000130 - - - - De novo yes - - - - Jinxiu Liu
-?/. - c.1193A>G r.(?) p.(Lys398Arg) - likely benign g.118343067A>G - KMT2A(NM_001197104.2):c.1193A>G (p.K398R) - KMT2A_000330 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1237G>A r.(?) p.(Val413Ile) ACMG VUS g.118343111G>A g.118472396G>A - - KMT2A_000231 - PubMed: Faundes 2018 - - Germline - - - - - Johan den Dunnen
?/. - c.1333T>C r.(?) p.(Ser445Pro) - VUS g.118343207T>C - - - KMT2A_000309 - - - - Unknown - - - - - MobiDetails
-?/. - c.1504G>A r.(?) p.(Glu502Lys) - likely benign g.118343378G>A g.118472663G>A KMT2A(NM_001197104.1):c.1504G>A (p.E502K, p.(Glu502Lys)) - KMT2A_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1504G>A r.(?) p.(Glu502Lys) - likely benign g.118343378G>A g.118472663G>A KMT2A(NM_001197104.1):c.1504G>A (p.E502K, p.(Glu502Lys)) - KMT2A_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1509G>C r.(?) p.(Arg503=) - likely benign g.118343383G>C - KMT2A(NM_001197104.1):c.1509G>C (p.R503=) - KMT2A_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1510A>T r.(?) p.(Ser504Cys) - VUS g.118343384A>T - KMT2A(NM_001197104.2):c.1510A>T (p.S504C) - KMT2A_000376 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - 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 - PubMed: Giangiobbe 2020, Journal: Giangiobbe 2020 - - De novo - - - - - Stefano Giuseppe Caraffi
+/. - c.1595C>A r.(?) p.(Ser532*) - pathogenic g.118343469C>A - - - KMT2A_000300 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 3 c.1697_1717dup r.(?) p.(Leu566_Leu572dup) - VUS g.118343571_118343591dup g.118472856_118472876dup 1692_1693insCTGCTGACTCCACCGCCACCA - KMT2A_000186 - PubMed: Di Fede 2021 - - Germline/De novo (untested) - - - - - Cristina Gervasini
-?/. - c.1716G>T r.(?) p.(Leu572=) - likely benign g.118343590G>T - KMT2A(NM_001197104.1):c.1716G>T (p.L572=) - KMT2A_000279 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1913C>T r.(?) p.(Ala638Val) - VUS g.118343787C>T - KMT2A(NM_001197104.2):c.1913C>T (p.(Ala638Val)) - KMT2A_000381 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - 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.1981G>A r.(?) p.(Val661Ile) - VUS g.118343855G>A - KMT2A(NM_001197104.2):c.1981G>A (p.V661I) - KMT2A_000392 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - 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.2044del r.(?) p.(Leu682Serfs*16) - likely pathogenic g.118343918del - - - KMT2A_000301 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2062T>G r.(?) p.(Phe688Val) - VUS g.118343936T>G - KMT2A(NM_001197104.1):c.2062T>G (p.F688V) - KMT2A_000280 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2070G>A r.(?) p.(Met690Ile) ACMG VUS g.118343944G>A - - - KMT2A_000265 ACMG: PM2_SUP, PP2 - - - Germline ? - - - - Andreas Laner
+/. - c.2126_2127del r.(?) p.(Ser709*) - pathogenic (dominant) g.118344000_118344001del - 2126_2127delCT - KMT2A_000005 - PubMed: DDDS 2015, Journal: DDDS 2015, PubMed: Faundes 2018 - - De novo - - - - - Johan den Dunnen
?/. - c.2143G>C r.(?) p.(Val715Leu) - VUS g.118344017G>C - - - KMT2A_000346 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 3 c.2148del r.(?) p.(Leu717Cysfs*39) - likely pathogenic g.118344022del g.118473307del 2148delC - KMT2A_000020 - PubMed: Miyake 2015 - - De novo - - - - - Guorui Hu
+/. - c.2193del r.(?) p.(Ser732Profs*24) ACMG pathogenic (dominant) g.118344067del g.118473352del 2193delA - KMT2A_000210 - PubMed: Helbig 2016 - - De novo - - - - - 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 - - - - - Guorui Hu
+/. - c.2255dup r.(?) p.(His753Serfs*11) ACMG pathogenic (dominant) g.118344129dup g.118473414dup 2255dupC - KMT2A_000211 - PubMed: Helbig 2016 - - De novo - - - - - Johan den Dunnen
+/. - c.2262del r.(?) p.(Met755*) ACMG pathogenic (dominant) g.118344136del g.118473421del 2262delC - KMT2A_000212 - PubMed: Helbig 2016 - - De novo - - - - - Johan den Dunnen
+/. - c.2318dup r.(?) p.(Ser774ValfsTer12) - pathogenic g.118344192dup g.118473477dup KMT2A(NM_001197104.2):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 - PubMed: Giangiobbe 2020, Journal: Giangiobbe 2020 - - De novo - - - - - Stefano Giuseppe Caraffi
-?/. - c.2401C>T r.(?) p.(His801Tyr) - likely benign g.118344275C>T - KMT2A(NM_001197104.2):c.2401C>T (p.(His801Tyr)) - KMT2A_000331 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2428G>A r.(?) p.(Ala810Thr) - likely benign g.118344302G>A - KMT2A(NM_001197104.1):c.2428G>A (p.(Ala810Thr)) - KMT2A_000347 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.2452A>T r.(?) p.(Lys818*) ACMG pathogenic g.118344326A>T g.118473611A>T - - KMT2A_000232 - PubMed: Faundes 2018 - - De novo - - - - - Johan den Dunnen
?/. 3 c.2455C>T r.(?) p.(Gln819*) - VUS g.118344329C>T g.118473614C>T - - KMT2A_000024 - - - - De novo yes - - - - Guorui Hu
?/. 3 c.2476C>T r.(?) p.(Pro826Ser) - VUS g.118344350C>T g.118473635C>T - - KMT2A_000039 - - - - Germline/De novo (untested) ? - - - - Thierry Bienvenu
-?/. - c.2478A>G r.(?) p.(Pro826=) - likely benign g.118344352A>G - KMT2A(NM_001197104.1):c.2478A>G (p.P826=) - KMT2A_000217 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 - PubMed: Giangiobbe 2020, Journal: Giangiobbe 2020 - - De novo - - - - - Stefano Giuseppe Caraffi
-?/. - c.2513G>C r.(?) p.(Trp838Ser) - likely benign g.118344387G>C - KMT2A(NM_001197104.1):c.2513G>C (p.(Trp838Ser)) - KMT2A_000348 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.2530C>T r.(?) p.(Gln844*) - pathogenic g.118344404C>T - - - KMT2A_000306 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2537A>G r.(?) p.(Glu846Gly) - VUS g.118344411A>G - KMT2A(NM_001197104.2):c.2537A>G (p.(Glu846Gly)) - KMT2A_000382 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2557A>G r.(?) p.(Lys853Glu) - likely benign g.118344431A>G - KMT2A(NM_001197104.1):c.2557A>G (p.K853E) - KMT2A_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.2627_2630del r.(?) p.(Arg876Thrfs*72) - likely pathogenic g.118344501_118344504del g.118473786_118473789del NM_001197104.1:c.2627_2630del; p.Arg876Thrfs - KMT2A_000266 - PubMed: Nair 2018 - - Unknown ? - - - - LOVD
+?/. 3 c.2632C>T r.(?) p.(Arg878Trp) ACMG likely pathogenic g.118344506C>T g.118473791C>T - - KMT2A_000370 - - ClinVar-3381765 rs1555036661 De novo - - - - - Marketa Wayhelova
+/. - c.2659del r.(?) p.(Glu887Serfs*62) ACMG pathogenic g.118344533del g.118473818del 2657delG - KMT2A_000233 - PubMed: Faundes 2018 - - De novo - - - - - Johan den Dunnen
./. - c.2659G>T r.(?) p.(Glu887*) - pathogenic (dominant) g.118344533G>T g.118473818G>T - - KMT2A_000001 - PubMed: DDDS 2015, Journal: DDDS 2015, PubMed: Faundes 2018 - - De novo - - - - - Johan den Dunnen
?/. - c.2726G>A r.(?) p.(Gly909Asp) - VUS g.118344600G>A g.118473885G>A KMT2A(NM_001197104.1):c.2726G>A (p.G909D), KMT2A(NM_001197104.2):c.2726G>A (p.G909D), KMT2A(NM_005933.3):c.2726G>A (p.G909D) - KMT2A_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2726G>A r.(?) p.(Gly909Asp) - likely benign g.118344600G>A - KMT2A(NM_001197104.1):c.2726G>A (p.G909D), KMT2A(NM_001197104.2):c.2726G>A (p.G909D), KMT2A(NM_005933.3):c.2726G>A (p.G909D) - KMT2A_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2791A>G r.(?) p.(Thr931Ala) - likely benign g.118344665A>G - KMT2A(NM_001197104.1):c.2791A>G (p.T931A) - KMT2A_000282 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2797C>T r.(?) p.(Arg933Trp) - likely benign g.118344671C>T g.118473956C>T KMT2A(NM_001197104.1):c.2797C>T (p.(Arg933Trp)), KMT2A(NM_001197104.2):c.2797C>T (p.R933W) - KMT2A_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2797C>T r.(?) p.(Arg933Trp) - VUS g.118344671C>T - KMT2A(NM_001197104.1):c.2797C>T (p.(Arg933Trp)), KMT2A(NM_001197104.2):c.2797C>T (p.R933W) - KMT2A_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - 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.2861C>T r.(?) p.(Thr954Ile) ACMG VUS (!) g.118344735C>T - - - KMT2A_000255 ACMG: PM2, PP2 class 3 - - - Germline ? - - - - Andreas Laner
-?/. - c.2862A>G r.(?) p.(Thr954=) - likely benign g.118344736A>G - KMT2A(NM_001197104.1):c.2862A>G (p.T954=) - KMT2A_000257 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2965C>T r.(?) p.(Leu989Phe) - likely benign g.118344839C>T - KMT2A(NM_001197104.1):c.2965C>T (p.(Leu989Phe)) - KMT2A_000349 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3002A>G r.(?) p.(His1001Arg) - VUS g.118344876A>G g.118474161A>G - - KMT2A_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.3034C>T r.(?) p.(Gln1012*) ACMG pathogenic g.118344908C>T g.118474193C>T - - KMT2A_000234 - PubMed: Faundes 2018 - - De novo - - - - - Johan den Dunnen
?/. - c.3074G>A r.(?) p.(Ser1025Asn) - VUS g.118344948G>A - KMT2A(NM_001197104.2):c.3074G>A (p.S1025N) - KMT2A_000310 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.3114G>A r.(?) p.(=) - likely benign g.118344988G>A - KMT2A(NM_001197104.2):c.3114G>A (p.(Glu1038=)) - KMT2A_000332 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.3156+2T>A r.spl? p.? - likely pathogenic g.118345032T>A - - - KMT2A_000291 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.3157G>A r.(?) p.(Gly1053Ser) - VUS g.118347520G>A g.118476805G>A KMT2A(NM_001197104.2):c.3157G>A (p.G1053S) - KMT2A_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
Legend   How to query   « First ‹ Prev     1 2 3 4 5     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.