Unique variants in gene KMT2D

Information The variants shown are described using the NM_003482.3 transcript reference sequence.

862 entries on 9 pages. Showing entries 1 - 100.
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Effect     

Reported     

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     
+/. 1 2 c.96C>G r.(?) p.(Asp32Glu) - pathogenic g.49448763G>C g.49054980G>C 96C>G, Asp32Glu - KMT2D_000535 - PubMed: Liu 2015 - - Germline yes - - - - Vincent Gatinois
-?/. 1 - c.163C>T r.(?) p.(Pro55Ser) - likely benign g.49448696G>A g.49054913G>A KMT2D(NM_003482.3):c.163C>T (p.(Pro55Ser)) - KMT2D_000831 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 4 2 c.166C>T r.(?) p.(Gln56*) - pathogenic g.49448693G>A g.49054910G>A 166C>T, Gln56* - KMT2D_000534 inherited from affected parent submitted - - Germline yes, ? - - - - Vincent Gatinois, Nina Bögershausen
+/. 1 2i c.177-2A>C r.177_400del p.Ser59Argfs*86 - pathogenic g.49448536T>G g.49054753T>G r.177_400del224 - KMT2D_000008 - PubMed: Micale 2014 - - De novo - - - - - B. Augello
+/. 2 2i c.177-2A>G r.spl p.? - pathogenic g.49448536T>C g.49054753T>C 177-2A>G, (?) - KMT2D_000533 - submitted - - Germline ?, yes - - - - Vincent Gatinois, Nina Bögershausen
?/. 1 - c.206G>C r.(?) p.(Cys69Ser) - - g.49448505C>G - KMT2D(NM_003482.3):c.206G>C (p.C69S) - chr12_007108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 1 - c.207T>A r.(?) p.(Cys69Ter) - likely pathogenic g.49448504A>T g.49054721A>T KMT2D(NM_003482.3):c.207T>A (p.(Cys69Ter)) - KMT2D_000830 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 5 3 c.248G>A r.(?) p.(Arg83Gln) - benign, likely benign g.49448463C>T g.49054680C>T KMT2D(NM_003482.3):c.248G>A (p.R83Q) - KMT2D_000105 VKGL data sharing initiative Nederland, 103 heterozygous; Clinindb (India), 1 more item Faruq 2020, submtted - rs55865069 CLASSIFICATION record, Germline - 103/2795 individuals, up to 0.06, 4/2795 individuals - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, Mohammed Faruq, Andreas Laner
+/. 1 - c.303dup r.(?) p.(Ser102GlufsTer6) - pathogenic g.49448413dup g.49054630dup KMT2D(NM_003482.3):c.303dupG (p.S102Efs*6) - KMT2D_000719 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 3 c.346T>C r.(?) p.(Ser116Pro) - VUS g.49448365A>G g.49054582A>G - - KMT2D_000007 - PubMed: Micale 2014 - - Germline ? - - - - B. Augello
+/. 1 3i c.400+1G>A r.177_400del p.Ser59Argfs*86 - pathogenic g.49448310C>T g.49054527C>T - - KMT2D_000004 - PubMed: Micale 2014 - - Unknown ? - - - - B. Augello
+/. 2 3i c.400+2T>C r.spl p.? - pathogenic g.49448309A>G g.49054526A>G 400+2T>C, (?) - KMT2D_000532 - submitted - - Germline yes, ? - - - - Nina Bögershausen, Vincent Gatinois
+/. 1 3i c.401-3A>G r.400_401insag p.Gly134Glufs*75 - pathogenic g.49448202T>C g.49054419T>C - - KMT2D_000005 - PubMed: Micale 2014 - - De novo - - - - - B. Augello
?/. 1 - c.444C>T r.(?) p.(Gly148=) - VUS g.49448156G>A g.49054373G>A KMT2D(NM_003482.3):c.444C>T (p.G148=) - KMT2D_000698 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 4 c.472del r.(?) p.(Cys158Valfs*50) - pathogenic g.49448128del g.49054345del 472delT, Cys158ValfsX50 - KMT2D_000531 - PubMed: Micale 2011 - - Germline ? - - - - Vincent Gatinois
-?/. 1 - c.507A>C r.(?) p.(Ser169=) - likely benign g.49448093T>G g.49054310T>G KMT2D(NM_003482.3):c.507A>C (p.S169=) - KMT2D_000861 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 4 c.509A>T r.(?) p.(Gln170Leu) - pathogenic g.49448091T>A g.49054308T>A 509A>T, ? - KMT2D_000530 - PubMed: Makrythanasis 2013 - - Germline ? - - - - Vincent Gatinois
+/. 1 4 c.510G>A r.(?) p.(=) - pathogenic g.49448090C>T g.49054307C>T 510G>A, ? - KMT2D_000529 - PubMed: Makrythanasis 2013 - - Germline yes - - - - Vincent Gatinois
-/., +/. 2 4 c.510G>C r.(?) p.(Gln170His) - benign, pathogenic g.49448090C>G g.49054307C>G 510G>C, ? - KMT2D_000006 - PubMed: Micale 2014, PubMed: Makrythanasis 2013 - - Germline ?, yes - - - - B. Augello, Vincent Gatinois
+/. 1 4i c.510+1G>A r.spl p.? - pathogenic g.49448089C>T g.49054306C>T 510+1G>A, splice site - KMT2D_000528 - PubMed: Miyake 2013 - - Germline ? - - - - Vincent Gatinois
+?/. 1 4i c.511-1G>A r.spl p.? - pathogenic (dominant) g.49447924C>T g.49054141C>T - - KMT2D_000720 - PubMed: de Billy 2019 - - De novo - - - - - Emanuele Agolini
-?/. 1 - c.554G>A r.(?) p.(Arg185His) - likely benign g.49447880C>T g.49054097C>T KMT2D(NM_003482.3):c.554G>A (p.R185H) - KMT2D_000829 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 5 c.588del r.(?) p.(Cys197Alafs*11) - pathogenic g.49447849del g.49054066del 588del, (Cys197Alafs*11) - KMT2D_000527 - PubMed: Makrythanasis 2013 - - Germline yes - - - - Vincent Gatinois
+/. 1 5 c.589del r.(?) p.(Cys197Alafs*11) - pathogenic g.49447845del g.49054062del 589del, (Cys197Alafs*11) - KMT2D_000526 - PubMed: Makrythanasis 2013 - - Germline ? - - - - Vincent Gatinois
?/. 1 5 c.626C>T r.(?) p.(Thr209Ile) - VUS g.49447808G>A g.49054025G>A - - KMT2D_000071 - PubMed: Micale 2014 - - Unknown ? - - - - B. Augello
?/. 1 - c.658G>A r.(?) p.(Gly220Arg) - VUS g.49447776C>T g.49053993C>T - - KMT2D_000724 - Journal: Reynhout 2019 - - Germline - - - - - Johan den Dunnen
+/. 1 5 c.669T>G r.(?) p.(Tyr223*) - pathogenic g.49447765A>C g.49053982A>C 669T>G, Tyr223X - KMT2D_000525 - PubMed: Micale 2011 - - Germline ? - - - - Vincent Gatinois
?/. 1 - c.674-7C>A r.(=) p.(=) - VUS g.49447431G>T g.49053648G>T KMT2D(NM_003482.3):c.674-7C>A - KMT2D_000860 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.696dup r.(?) p.(Glu233Ter) - pathogenic g.49447402dup g.49053619dup KMT2D(NM_003482.3):c.696dupT (p.E233*) - KMT2D_000828 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 6 c.697G>T r.(?) p.(Glu233*) - pathogenic g.49447401C>A g.49053618C>A 697G>T, E233X - KMT2D_000524 - PubMed: Banka 2012 - - Germline ? - - - - Vincent Gatinois
+/. 1 6 c.702del r.(?) p.(Pro235Glnfs*26) - pathogenic g.49447399del g.49053616del 702delG, P235QfsX26 - KMT2D_000523 - PubMed: Hannibal 2011 - - Germline ? - - - - Vincent Gatinois
+/. 1 6 c.705del r.(?) p.(Glu237Serfs*24) - pathogenic g.49447393del g.49053610del 705delA, Pro235ProfsX26 - KMT2D_000522 - PubMed: Micale 2011 - - Germline ? - - - - Vincent Gatinois
-?/. 1 - c.711G>A r.(?) p.(Glu237=) - likely benign g.49447387C>T g.49053604C>T KMT2D(NM_003482.3):c.711G>A (p.E237=) - KMT2D_000888 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 6 c.721del r.(?) p.(Leu241Cysfs*20) - pathogenic g.49447378del g.49053595del 721del, (Leu241Cysfs*20) - KMT2D_000521 - PubMed: Dentici 2015 - - Germline yes - - - - Vincent Gatinois
+/. 2 6 c.741T>A r.(?) p.(Cys247*) - pathogenic g.49447357A>T g.49053574A>T 741T>A, Cys247X - KMT2D_000520 - submitted - - De novo, Germline yes - - - - Nina Bögershausen, Vincent Gatinois
+/. 2 6 c.751dup r.(?) p.(Tyr251Leufs*22) - pathogenic g.49447347dup g.49053564dup 751dupT, Tyr251LeufsX22 - KMT2D_000519 - submitted - - Germline yes, ? - - - - Nina Bögershausen, Vincent Gatinois
+/. 1 6i c.839+2T>A r.spl p.? - pathogenic g.49447257A>T g.49053474A>T - - KMT2D_000571 - submitted - - De novo - - - - - Nina Bögershausen
?/. 1 6i c.839+69G>A r.(=) p.(=) - VUS g.49447190C>T g.49053407C>T - - KMT2D_000104 - - - - Germline - - - - - Andreas Laner
+/. 1 6i c.840-1G>A r.spl p.? - pathogenic g.49447105C>T g.49053322C>T 840-1G>A, - KMT2D_000518 - PubMed: Hannibal 2011 - - Germline ? - - - - Vincent Gatinois
?/. 1 7 c.859A>G r.(?) p.(Lys287Glu) - VUS g.49447085T>C g.49053302T>C - - KMT2D_000103 PolyPhen-2 benign score 0.009 - - - Germline - - - - - Andreas Laner
+/. 1 7 c.859_860insT r.(?) p.(Lys287Ilefs*6) - pathogenic g.49447084_49447085insA g.49053301_49053302insA 859_860insT, (Lys287Ilefs*6) - KMT2D_000517 - PubMed: Makrythanasis 2013 - - Germline yes - - - - Vincent Gatinois
-?/. 1 - c.879G>A r.(?) p.(Thr293=) - likely benign g.49447065C>T g.49053282C>T KMT2D(NM_003482.3):c.879G>A (p.T293=) - KMT2D_000827 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 7i c.954+1G>T r.spl p.? - pathogenic g.49446989C>A g.49053206C>A 954+1G>T, - KMT2D_000516 - PubMed: Li 2011 - - Germline yes - - - - Vincent Gatinois
+/. 1 7i c.955-1G>A r.spl? p.? - pathogenic g.49446856C>T g.49053073C>T - - KMT2D_000102 - - - - Germline - - - - - Andreas Laner
-?/., +/. 2 8 c.1010C>T r.(?) p.(Ser337Leu) - likely benign, pathogenic g.49446800G>A g.49053017G>A KMT2D(NM_003482.3):c.1010C>T (p.S337L), 1010C>T, S337L - KMT2D_000515 VKGL data sharing initiative Nederland PubMed: Banka 2012 - - CLASSIFICATION record, Germline ? - - - - VKGL-NL_Rotterdam, Vincent Gatinois
+/. 1 8 c.1012G>T r.(?) p.(Glu338*) - pathogenic g.49446798C>A g.49053015C>A 1012G>T, (Glu338*) - KMT2D_000514 - PubMed: Makrythanasis 2013 - - Germline ? - - - - Vincent Gatinois
+/. 1 8 c.1035_1036del r.(?) p.(Cys346Serfs*17) - pathogenic g.49446780_49446781del g.49052997_49052998del 1035_1036delCT, Leu345LeufsX18 - KMT2D_000513 - PubMed: Micale 2011 - - Germline ? - - - - Vincent Gatinois
?/. 1 - c.1040A>G r.(?) p.(His347Arg) - VUS g.49446770T>C g.49052987T>C KMT2D(NM_003482.3):c.1040A>G (p.H347R) - KMT2D_000826 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1042C>T r.(?) p.(Arg348Cys) - VUS g.49446768G>A g.49052985G>A KMT2D(NM_003482.3):c.1042C>T (p.R348C) - KMT2D_000697 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1115T>A r.(?) p.(Phe372Tyr) - likely benign g.49446490A>T g.49052707A>T KMT2D(NM_003482.3):c.1115T>A (p.(Phe372Tyr)) - KMT2D_000696 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1120C>A r.(?) p.(Pro374Thr) - likely benign g.49446485G>T g.49052702G>T KMT2D(NM_003482.3):c.1120C>A (p.P374T) - KMT2D_000887 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 9 c.1142_1143insACCC r.(?) p.(Thr382Profs*3) - pathogenic g.49446465_49446466insTGGG g.49052682_49052683insTGGG 1142_1143insACCC, Pro381HisfsX3 - KMT2D_000512 - submitted - - Germline, De novo yes - - - - Vincent Gatinois, Nina Bögershausen
-?/. 1 - c.1143C>T r.(?) p.(Pro381=) - - g.49446462G>A - KMT2D(NM_003482.3):c.1143C>T (p.P381=) - chr12_007107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1149C>T r.(?) p.(Asp383=) - likely benign g.49446456G>A g.49052673G>A KMT2D(NM_003482.3):c.1149C>T (p.D383=) - KMT2D_000825 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1155C>T r.(?) p.(Pro385=) - likely benign g.49446450G>A g.49052667G>A KMT2D(NM_003482.3):c.1155C>T (p.P385=) - KMT2D_000886 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 9 c.1187C>G r.(?) p.(Pro396Arg) - pathogenic g.49446418G>C g.49052635G>C 1187C>G, Pro396Arg - KMT2D_000511 - - - - Germline ? - - - - Vincent Gatinois
?/. 1 - c.1190A>C r.(?) p.(Lys397Thr) - VUS g.49446415T>G g.49052632T>G KMT2D(NM_003482.3):c.1190A>C (p.K397T) - KMT2D_000859 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 2 - c.1258+5G>A r.spl? p.? - likely pathogenic g.49446342C>T g.49052559C>T KMT2D(NM_003482.3):c.1258+5G>A - KMT2D_000695 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
+/. 1 10 c.1300del r.(?) p.(Leu434*) - pathogenic g.49446171del g.49052388del 1300delC, Leu434* - KMT2D_000510 - PubMed: Miyake 2013 - - Germline ? - - - - Vincent Gatinois
+/. 1 10 c.1301del r.(?) p.(Leu434Glnfs*496) - pathogenic g.49446165del g.49052382del 1301delT, Leu434GlnfsX496 - KMT2D_000509 - PubMed: Paulussen 2011 - - Germline yes - - - - Vincent Gatinois
-?/. 1 - c.1305C>T r.(?) p.(Asn435=) - likely benign g.49446161G>A g.49052378G>A KMT2D(NM_003482.3):c.1305C>T (p.N435=) - KMT2D_000694 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 2 10 c.1328del r.(?) p.(Pro443Hisfs*487) - pathogenic g.49446142del g.49052359del 1328delC, Pro443Hisfs*487, 1324delC, P442HfsX487 - KMT2D_000508 - PubMed: Miyake 2013, PubMed: Ng 2010, PubMed: Hannibal 2011 - - Germline yes, ? - - - - Vincent Gatinois
+?/. 1 - c.1329_1332del r.(?) p.(Pro444Argfs*485) - likely pathogenic g.49446134_49446137del g.49052351_49052354del - - KMT2D_000871 11 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs587783689 Germline - 11/2622 individuals - - - Mohammed Faruq
+/. 2 10 c.1345_1346del r.(?) p.(Leu449Valfs*5) - pathogenic g.49446120_49446121del g.49052337_49052338del 1345_1346delCT, Leu449ValfsX5, 1345_1346del, (Leu449Valfs*5) - KMT2D_000507 - PubMed: Micale 2011, PubMed: Dentici 2015 - - Germline ? - - - - Vincent Gatinois
+/. 2 10 c.1363del r.(?) p.(Glu455Asnfs*475) - pathogenic g.49446104del g.49052321del 1363delG, Glu455Asnfs*475 - KMT2D_000506 - submitted - - Germline yes, ? - - - - Nina Bögershausen, Vincent Gatinois
+/. 2 10 c.1425del r.(?) p.(Ala476Hisfs*454) - pathogenic g.49446043del g.49052260del 1425delC, Pro475ProfsX455 - KMT2D_000505 - submitted - - De novo, Germline yes - - - - Nina Bögershausen, Vincent Gatinois
+/. 1 10 c.1448dup r.(?) p.(Leu483Phefs*17) - pathogenic g.49446019dup g.49052236dup 1446insT, L483FfsX17 - KMT2D_000504 - PubMed: Banka 2012 - - Germline ? - - - - Vincent Gatinois
+/. 1 10 c.1483_1486del r.(?) p.(Ser495Argfs*434) - pathogenic g.49445983_49445986del g.49052200_49052203del 1483_1486delTCTC, S495RfsX434 - KMT2D_000503 - PubMed: Li 2011 - - Germline ? - - - - Vincent Gatinois
?/. 1 - c.1487C>T r.(?) p.(Pro496Leu) - VUS g.49445979G>A g.49052196G>A KMT2D(NM_003482.3):c.1487C>T (p.P496L) - KMT2D_000692 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 10 c.1503dup r.(?) p.(Pro502Serfs*7) - pathogenic g.49445963dup g.49052180dup - - KMT2D_000003 - PubMed: Micale 2014 - - De novo - - - - - Giuseppe Merla
+/. 1 10 c.1512_1513del r.(?) p.(Pro506Thrfs*2) - pathogenic g.49445955_49445956del g.49052172_49052173del 1512_1513delTC, P506TfsX2 - KMT2D_000502 - PubMed: Li 2011 - - Germline yes - - - - Vincent Gatinois
+/. 1 10 c.1530del r.(?) p.(Pro511Leufs*419) - pathogenic (dominant) g.49445936del g.49052153del 1530_1530delA - KMT2D_000721 - PubMed: Martinez 2017, Journal: Martinez 2017 - - De novo - - - - - Johan den Dunnen
-?/. 1 - c.1568C>T r.(?) p.(Pro523Leu) - likely benign g.49445898G>A g.49052115G>A KMT2D(NM_003482.3):c.1568C>T (p.P523L) - KMT2D_000885 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 2 10 c.1576_1577del r.(?) p.(Ser526Thrfs*7) - pathogenic g.49445889_49445890del g.49052106_49052107del 1576_1577delTC, Ser526ThrfsX7 - KMT2D_000501 - submitted - - Germline yes, ? - - - - Nina Bögershausen, Vincent Gatinois
+/. 1 10 c.1628C>T r.(?) p.(Ser543Leu) - pathogenic g.49445838G>A g.49052055G>A 1628C>T, S543L - KMT2D_000500 - PubMed: Li 2011 - - Germline no - - - - Vincent Gatinois
+/. 1 10 c.1634del r.(?) p.(Leu545Argfs*385) - pathogenic g.49445832del g.49052049del 1634delT, L545RfsX - KMT2D_000499 - PubMed: Banka 2012 - - Germline ? - - - - Vincent Gatinois
?/. 1 10 c.1660T>A r.(?) p.(Leu554Met) - VUS g.49445806A>T g.49052023A>T - - KMT2D_000101 - - - - Germline - - - - - Andreas Laner
./. 1 - c.1667C>T r.(?) p.(Pro556Leu) - pathogenic g.49445799G>A g.49052016G>A - - KMT2D_000118 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
?/. 1 10 c.1668G>A r.(=) p.(=) - VUS g.49445798C>T g.49052015C>T - - KMT2D_000100 - - - - Germline - - - - - Andreas Laner
-?/. 1 - c.1725A>T r.(?) p.(Pro575=) - likely benign g.49445741T>A g.49051958T>A KMT2D(NM_003482.3):c.1725A>T (p.P575=) - KMT2D_000823 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1762T>C r.(?) p.(Ser588Pro) - likely benign g.49445704A>G g.49051921A>G KMT2D(NM_003482.3):c.1762T>C (p.S588P) - KMT2D_000691 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 10 c.1781C>T r.(?) p.(Pro594Leu) - pathogenic g.49445685G>A g.49051902G>A 1781C>T, Pro594Leu - KMT2D_000498 - - - - Germline no - - - - Vincent Gatinois
-?/. 1 - c.1793G>A r.(?) p.(Arg598His) - likely benign g.49445673C>T g.49051890C>T KMT2D(NM_003482.3):c.1793G>A (p.R598H) - KMT2D_000690 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 2 - c.1797G>A r.(?) p.(Leu599=) - likely benign g.49445669C>T g.49051886C>T KMT2D(NM_003482.3):c.1797G>A (p.L599=) - KMT2D_000858 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.1850T>A r.(?) p.(Leu617His) - likely benign g.49445616A>T g.49051833A>T KMT2D(NM_003482.3):c.1850T>A (p.L617H) - KMT2D_000689 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 10 c.1921G>T r.(?) p.(Glu641*) - pathogenic g.49445545C>A g.49051762C>A 1921G>T, Glu641X - KMT2D_000497 - PubMed: Micale 2011 - - Germline ? - - - - Vincent Gatinois
?/. 1 - c.1923A>C r.(?) p.(Glu641Asp) - VUS g.49445543T>G g.49051760T>G KMT2D(NM_003482.3):c.1923A>C (p.E641D) - KMT2D_000688 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1930A>C r.(?) p.(Met644Leu) - VUS g.49445536T>G g.49051753T>G KMT2D(NM_003482.3):c.1930A>C (p.(Met644Leu)) - KMT2D_000687 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.1938C>G r.(?) p.(Pro646=) - benign g.49445528G>C g.49051745G>C KMT2D(NM_003482.3):c.1938C>G (p.P646=) - KMT2D_000884 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., +/. 3 10, 14 c.1940C>A r.(?) p.(Pro647Gln) - likely benign, pathogenic g.49445526G>T g.49051743G>T KMT2D(NM_003482.3):c.1940C>A (p.P647Q), 1940C>A, P647Q, 1940C>A, (Pro647Gln) - KMT2D_000496 VKGL data sharing initiative Nederland PubMed: Li 2011, PubMed: Makrythanasis 2013 - - CLASSIFICATION record, Germline ?, yes - - - - VKGL-NL_Utrecht, Vincent Gatinois
-?/. 1 - c.1954C>T r.(?) p.(Arg652Cys) - likely benign g.49445512G>A g.49051729G>A KMT2D(NM_003482.3):c.1954C>T (p.R652C) - KMT2D_000857 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1965C>A r.(?) p.(Pro655=) - likely benign g.49445501G>T g.49051718G>T KMT2D(NM_003482.3):c.1965C>A (p.P655=) - KMT2D_000822 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 10 c.1966dup r.(?) p.(Leu656Profs*12) - pathogenic g.49445505dup g.49051722dup 1966dupC, Leu656ProfsX11 - KMT2D_000495 - submitted - - Germline yes, ? - - - - Nina Bögershausen, Vincent Gatinois
?/. 1 - c.2038A>C r.(?) p.(Thr680Pro) - VUS g.49445428T>G g.49051645T>G KMT2D(NM_003482.3):c.2038A>C (p.T680P) - KMT2D_000686 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.2052T>A r.(?) p.(Pro684=) - likely benign g.49445414A>T g.49051631A>T KMT2D(NM_003482.3):c.2052T>A (p.P684=) - KMT2D_000685 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2056G>A r.(?) p.(Ala686Thr) - VUS g.49445410C>T g.49051627C>T KMT2D(NM_003482.3):c.2056G>A (p.(Ala686Thr)) - KMT2D_000684 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2074C>A r.(?) p.(Pro692Thr) - likely benign g.49445392G>T g.49051609G>T KMT2D(NM_003482.3):c.2074C>A (p.(Pro692Thr)) - KMT2D_000683 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 10 c.2110del r.(?) p.(Asp704Thrfs*226) - pathogenic g.49445357del g.49051574del 2110delG, Asp704ThrfsX226 - KMT2D_000494 - PubMed: Paulussen 2011 - - Germline yes - - - - Vincent Gatinois
-/. 1 - c.2156C>T r.(?) p.(Pro719Leu) - benign g.49445310G>A g.49051527G>A KMT2D(NM_003482.3):c.2156C>T (p.P719L) - KMT2D_000821 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 10 c.2164del r.(?) p.(Glu722Serfs*208) - pathogenic g.49445303del g.49051520del 2164delG, Glu722SerfsX208 - KMT2D_000493 - submitted - - De novo, Germline yes - - - - Nina Bögershausen, Vincent Gatinois
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