Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 22575 single nucleotide variant NM_003482.3(KMT2D):c.15536G>A (p.Arg5179His) 267607237 MedGen:CN030661,OMIM:147920 12 49420213 49420213 C T 22575 single nucleotide variant NM_003482.3(KMT2D):c.15536G>A (p.Arg5179His) 267607237 MedGen:CN030661,OMIM:147920 12 49026430 49026430 C T 22576 single nucleotide variant NM_003482.3(KMT2D):c.13579A>T (p.Lys4527Ter) 267607240 MedGen:CN030661,OMIM:147920 12 49424768 49424768 T A 22576 single nucleotide variant NM_003482.3(KMT2D):c.13579A>T (p.Lys4527Ter) 267607240 MedGen:CN030661,OMIM:147920 12 49030985 49030985 T A 22577 single nucleotide variant NM_003482.3(KMT2D):c.16360C>T (p.Arg5454Ter) 267607239 MedGen:CN030661,OMIM:147920 12 49416115 49416115 G A 22577 single nucleotide variant NM_003482.3(KMT2D):c.16360C>T (p.Arg5454Ter) 267607239 MedGen:CN030661,OMIM:147920 12 49022332 49022332 G A 22578 single nucleotide variant NM_003482.3(KMT2D):c.16391C>T (p.Thr5464Met) 267607238 MedGen:CN030661,OMIM:147920;MedGen:CN169374 12 49416084 49416084 G A 22578 single nucleotide variant NM_003482.3(KMT2D):c.16391C>T (p.Thr5464Met) 267607238 MedGen:CN030661,OMIM:147920;MedGen:CN169374 12 49022301 49022301 G A 100034 single nucleotide variant NM_003482.3(KMT2D):c.10045A>G (p.Met3349Val) 80149580 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49431094 49431094 T C 100034 single nucleotide variant NM_003482.3(KMT2D):c.10045A>G (p.Met3349Val) 80149580 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49037311 49037311 T C 100035 single nucleotide variant NM_003482.3(KMT2D):c.10192A>G (p.Met3398Val) 75937132 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49430947 49430947 T C 100035 single nucleotide variant NM_003482.3(KMT2D):c.10192A>G (p.Met3398Val) 75937132 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49037164 49037164 T C 100036 single nucleotide variant NM_003482.3(KMT2D):c.10256A>G (p.Asp3419Gly) 146044282 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49428694 49428694 T C 100036 single nucleotide variant NM_003482.3(KMT2D):c.10256A>G (p.Asp3419Gly) 146044282 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49034911 49034911 T C 100037 indel NM_003482.3(KMT2D):c.10623_10629delTCTGTGTinsCGCAAGTCACG (p.Leu3542Alafs) 398123699 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49427961 49427967 ACACAGA CGTGACTTGCG 100037 indel NM_003482.3(KMT2D):c.10623_10629delTCTGTGTinsCGCAAGTCACG (p.Leu3542Alafs) 398123699 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49034178 49034184 ACACAGA CGTGACTTGCG 100038 single nucleotide variant NM_003482.3(KMT2D):c.10671A>G (p.Pro3557=) 61942218 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49427919 49427919 T C 100038 single nucleotide variant NM_003482.3(KMT2D):c.10671A>G (p.Pro3557=) 61942218 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49034136 49034136 T C 100039 single nucleotide variant NM_003482.3(KMT2D):c.10740G>A (p.Gln3580=) 398123700 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49427850 49427850 C T 100039 single nucleotide variant NM_003482.3(KMT2D):c.10740G>A (p.Gln3580=) 398123700 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49034067 49034067 C T 100040 single nucleotide variant NM_003482.3(KMT2D):c.10819C>T (p.Gln3607Ter) 398123701 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49427669 49427669 G A 100040 single nucleotide variant NM_003482.3(KMT2D):c.10819C>T (p.Gln3607Ter) 398123701 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49033886 49033886 G A 100041 single nucleotide variant NM_003482.3(KMT2D):c.10834C>T (p.Gln3612Ter) 398123702 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49427654 49427654 G A 100041 single nucleotide variant NM_003482.3(KMT2D):c.10834C>T (p.Gln3612Ter) 398123702 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49033871 49033871 G A 100042 single nucleotide variant NM_003482.3(KMT2D):c.10836G>A (p.Gln3612=) 3782357 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49427652 49427652 C T 100042 single nucleotide variant NM_003482.3(KMT2D):c.10836G>A (p.Gln3612=) 3782357 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49033869 49033869 C T 100043 single nucleotide variant NM_003482.3(KMT2D):c.11037A>G (p.Gln3679=) 374418866 MedGen:CN169374 12 49427451 49427451 T C 100043 single nucleotide variant NM_003482.3(KMT2D):c.11037A>G (p.Gln3679=) 374418866 MedGen:CN169374 12 49033668 49033668 T C 100044 single nucleotide variant NM_003482.3(KMT2D):c.1112+19C>T 398123703 MedGen:CN169374 12 49446679 49446679 G A 100044 single nucleotide variant NM_003482.3(KMT2D):c.1112+19C>T 398123703 MedGen:CN169374 12 49052896 49052896 G A 100045 single nucleotide variant NM_003482.3(KMT2D):c.11141G>A (p.Arg3714Lys) 186696516 MedGen:CN169374 12 49427347 49427347 C T 100045 single nucleotide variant NM_003482.3(KMT2D):c.11141G>A (p.Arg3714Lys) 186696516 MedGen:CN169374 12 49033564 49033564 C T 100046 single nucleotide variant NM_003482.3(KMT2D):c.11149C>T (p.Gln3717Ter) 398123704 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49427339 49427339 G A 100046 single nucleotide variant NM_003482.3(KMT2D):c.11149C>T (p.Gln3717Ter) 398123704 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49033556 49033556 G A 100047 single nucleotide variant NM_003482.3(KMT2D):c.11150A>C (p.Gln3717Pro) 398123705 MedGen:CN169374 12 49427338 49427338 T G 100047 single nucleotide variant NM_003482.3(KMT2D):c.11150A>C (p.Gln3717Pro) 398123705 MedGen:CN169374 12 49033555 49033555 T G 100048 deletion NM_003482.3(KMT2D):c.11201_11202delTG (p.Leu3734Profs) 398123706 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49427286 49427287 CA - 100048 deletion NM_003482.3(KMT2D):c.11201_11202delTG (p.Leu3734Profs) 398123706 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49033503 49033504 CA - 100049 single nucleotide variant NM_003482.3(KMT2D):c.1120C>A (p.Pro374Thr) 202013880 MedGen:CN169374 12 49446485 49446485 G T 100049 single nucleotide variant NM_003482.3(KMT2D):c.1120C>A (p.Pro374Thr) 202013880 MedGen:CN169374 12 49052702 49052702 G T 100050 duplication NM_003482.3(KMT2D):c.11220_11222dupGCA (p.Gln3745_His3746insGln) 398123707 MedGen:CN169374 12 49427266 49427268 TGC TGCTGC 100050 duplication NM_003482.3(KMT2D):c.11220_11222dupGCA (p.Gln3745_His3746insGln) 398123707 MedGen:CN169374 12 49033483 49033485 TGC TGCTGC 100051 single nucleotide variant NM_003482.3(KMT2D):c.11692C>T (p.Gln3898Ter) 398123708 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49426796 49426796 G A 100051 single nucleotide variant NM_003482.3(KMT2D):c.11692C>T (p.Gln3898Ter) 398123708 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49033013 49033013 G A 100052 deletion NM_003482.3(KMT2D):c.11729_11734delAGCAAC (p.Gln3910_Gln3911del) 398123709 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49426754 49426759 GTTGCT - 100052 deletion NM_003482.3(KMT2D):c.11729_11734delAGCAAC (p.Gln3910_Gln3911del) 398123709 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49032971 49032976 GTTGCT - 100053 single nucleotide variant NM_003482.3(KMT2D):c.1187C>G (p.Pro396Arg) 377452989 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49446418 49446418 G C 100053 single nucleotide variant NM_003482.3(KMT2D):c.1187C>G (p.Pro396Arg) 377452989 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49052635 49052635 G C 100054 single nucleotide variant NM_003482.3(KMT2D):c.12028T>C (p.Ser4010Pro) 80132640 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49426460 49426460 A G 100054 single nucleotide variant NM_003482.3(KMT2D):c.12028T>C (p.Ser4010Pro) 80132640 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49032677 49032677 A G 100055 single nucleotide variant NM_003482.3(KMT2D):c.12172A>G (p.Met4058Val) 398123710 MedGen:CN169374 12 49426316 49426316 T C 100055 single nucleotide variant NM_003482.3(KMT2D):c.12172A>G (p.Met4058Val) 398123710 MedGen:CN169374 12 49032533 49032533 T C 100056 single nucleotide variant NM_003482.3(KMT2D):c.12406C>T (p.Gln4136Ter) 398123711 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49426082 49426082 G A 100056 single nucleotide variant NM_003482.3(KMT2D):c.12406C>T (p.Gln4136Ter) 398123711 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49032299 49032299 G A 100057 single nucleotide variant NM_003482.3(KMT2D):c.12430C>T (p.Gln4144Ter) 398123712 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49426058 49426058 G A 100057 single nucleotide variant NM_003482.3(KMT2D):c.12430C>T (p.Gln4144Ter) 398123712 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49032275 49032275 G A 100058 single nucleotide variant NM_003482.3(KMT2D):c.12510A>G (p.Pro4170=) 3741622 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49425978 49425978 T C 100058 single nucleotide variant NM_003482.3(KMT2D):c.12510A>G (p.Pro4170=) 3741622 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49032195 49032195 T C 100059 single nucleotide variant NM_003482.3(KMT2D):c.12579G>A (p.Thr4193=) 398123713 MedGen:CN169374 12 49425909 49425909 C T 100059 single nucleotide variant NM_003482.3(KMT2D):c.12579G>A (p.Thr4193=) 398123713 MedGen:CN169374 12 49032126 49032126 C T 100060 single nucleotide variant NM_003482.3(KMT2D):c.12712C>T (p.Arg4238Cys) 398123714 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49425776 49425776 G A 100060 single nucleotide variant NM_003482.3(KMT2D):c.12712C>T (p.Arg4238Cys) 398123714 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49031993 49031993 G A 100061 single nucleotide variant NM_003482.3(KMT2D):c.12867C>T (p.Leu4289=) 202082835 MedGen:CN169374 12 49425621 49425621 G A 100061 single nucleotide variant NM_003482.3(KMT2D):c.12867C>T (p.Leu4289=) 202082835 MedGen:CN169374 12 49031838 49031838 G A 100062 single nucleotide variant NM_003482.3(KMT2D):c.12913G>A (p.Val4305Ile) 199895011 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN030661,OMIM:147920;MedGen:CN221809;MedGen:CN169374 12 49425575 49425575 C T 100062 single nucleotide variant NM_003482.3(KMT2D):c.12913G>A (p.Val4305Ile) 199895011 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN030661,OMIM:147920;MedGen:CN221809;MedGen:CN169374 12 49031792 49031792 C T 100063 duplication NM_003482.3(KMT2D):c.1300dupC (p.Leu434Profs) 398123715 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49446166 49446166 G GG 100063 duplication NM_003482.3(KMT2D):c.1300dupC (p.Leu434Profs) 398123715 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49052383 49052383 G GG 100064 deletion NM_003482.3(KMT2D):c.13032delC (p.Lys4345Asnfs) 398123716 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49425456 49425456 G - 100064 deletion NM_003482.3(KMT2D):c.13032delC (p.Lys4345Asnfs) 398123716 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49031673 49031673 G - 100065 single nucleotide variant NM_003482.3(KMT2D):c.13045C>G (p.Pro4349Ala) 181733689 MedGen:CN030661,OMIM:147920;MedGen:CN169374 12 49425443 49425443 G C 100065 single nucleotide variant NM_003482.3(KMT2D):c.13045C>G (p.Pro4349Ala) 181733689 MedGen:CN030661,OMIM:147920;MedGen:CN169374 12 49031660 49031660 G C 100066 single nucleotide variant NM_003482.3(KMT2D):c.13587C>A (p.Ser4529Arg) 398123717 MedGen:CN169374 12 49424760 49424760 G T 100066 single nucleotide variant NM_003482.3(KMT2D):c.13587C>A (p.Ser4529Arg) 398123717 MedGen:CN169374 12 49030977 49030977 G T 100067 single nucleotide variant NM_003482.3(KMT2D):c.13644C>T (p.Ser4548=) 201119371 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49424703 49424703 G A 100067 single nucleotide variant NM_003482.3(KMT2D):c.13644C>T (p.Ser4548=) 201119371 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49030920 49030920 G A 100068 duplication NM_003482.3(KMT2D):c.13671+10dupC 147210845 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49424666 49424666 G GG 100068 duplication NM_003482.3(KMT2D):c.13671+10dupC 147210845 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49030883 49030883 G GG 100069 single nucleotide variant NM_003482.3(KMT2D):c.13689C>T (p.Pro4563=) 11168830 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49424534 49424534 G A 100069 single nucleotide variant NM_003482.3(KMT2D):c.13689C>T (p.Pro4563=) 11168830 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49030751 49030751 G A 100070 single nucleotide variant NM_003482.3(KMT2D):c.13740C>G (p.Gly4580=) 398123718 MedGen:CN169374 12 49424483 49424483 G C 100070 single nucleotide variant NM_003482.3(KMT2D):c.13740C>G (p.Gly4580=) 398123718 MedGen:CN169374 12 49030700 49030700 G C 100071 single nucleotide variant NM_003482.3(KMT2D):c.14185C>T (p.Arg4729Trp) 398123719 MedGen:CN169374 12 49422910 49422910 G A 100071 single nucleotide variant NM_003482.3(KMT2D):c.14185C>T (p.Arg4729Trp) 398123719 MedGen:CN169374 12 49029127 49029127 G A 100072 single nucleotide variant NM_003482.3(KMT2D):c.14238G>A (p.Arg4746=) 75340924 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49422857 49422857 C T 100072 single nucleotide variant NM_003482.3(KMT2D):c.14238G>A (p.Arg4746=) 75340924 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49029074 49029074 C T 100073 single nucleotide variant NM_003482.3(KMT2D):c.14251+18T>C 74830946 MedGen:CN169374 12 49422826 49422826 A G 100073 single nucleotide variant NM_003482.3(KMT2D):c.14251+18T>C 74830946 MedGen:CN169374 12 49029043 49029043 A G 100074 single nucleotide variant NM_003482.3(KMT2D):c.1426G>A (p.Ala476Thr) 1064210 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49446040 49446040 C T 100074 single nucleotide variant NM_003482.3(KMT2D):c.1426G>A (p.Ala476Thr) 1064210 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49052257 49052257 C T 100075 duplication NM_003482.3(KMT2D):c.14580dupT (p.Asp4861Terfs) 398123720 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49421649 49421649 A AA 100075 duplication NM_003482.3(KMT2D):c.14580dupT (p.Asp4861Terfs) 398123720 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49027866 49027866 A AA 100076 single nucleotide variant NM_003482.3(KMT2D):c.14710C>T (p.Arg4904Ter) 398123721 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49421039 49421039 G A 100076 single nucleotide variant NM_003482.3(KMT2D):c.14710C>T (p.Arg4904Ter) 398123721 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49027256 49027256 G A 100077 duplication NM_003482.3(KMT2D):c.15030dupA (p.Glu5011Argfs) 398123722 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49420719 49420719 T TT 100077 duplication NM_003482.3(KMT2D):c.15030dupA (p.Glu5011Argfs) 398123722 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49026936 49026936 T TT 100078 single nucleotide variant NM_003482.3(KMT2D):c.15090T>G (p.Arg5030=) 373414243 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49420659 49420659 A C 100078 single nucleotide variant NM_003482.3(KMT2D):c.15090T>G (p.Arg5030=) 373414243 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49026876 49026876 A C 100079 single nucleotide variant NM_003482.3(KMT2D):c.15104G>C (p.Cys5035Ser) 398123723 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49420645 49420645 C G 100079 single nucleotide variant NM_003482.3(KMT2D):c.15104G>C (p.Cys5035Ser) 398123723 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49026862 49026862 C G 100080 single nucleotide variant NM_003482.3(KMT2D):c.15142C>T (p.Arg5048Cys) 398123724 MedGen:CN030661,OMIM:147920;MedGen:CN169374 12 49420607 49420607 G A 100080 single nucleotide variant NM_003482.3(KMT2D):c.15142C>T (p.Arg5048Cys) 398123724 MedGen:CN030661,OMIM:147920;MedGen:CN169374 12 49026824 49026824 G A 100081 deletion NM_003482.3(KMT2D):c.15163_15168delGACCTG (p.Asp5055_Leu5056del) 398123725 MedGen:CN169374 12 49420581 49420586 CAGGTC - 100081 deletion NM_003482.3(KMT2D):c.15163_15168delGACCTG (p.Asp5055_Leu5056del) 398123725 MedGen:CN169374 12 49026798 49026803 CAGGTC - 100082 single nucleotide variant NM_003482.3(KMT2D):c.15230T>G (p.Leu5077Arg) 398123726 MedGen:CN169374 12 49420519 49420519 A C 100082 single nucleotide variant NM_003482.3(KMT2D):c.15230T>G (p.Leu5077Arg) 398123726 MedGen:CN169374 12 49026736 49026736 A C 100083 single nucleotide variant NM_003482.3(KMT2D):c.15273G>A (p.Lys5091=) 398123727 MedGen:CN169374 12 49420476 49420476 C T 100083 single nucleotide variant NM_003482.3(KMT2D):c.15273G>A (p.Lys5091=) 398123727 MedGen:CN169374 12 49026693 49026693 C T 100084 single nucleotide variant NM_003482.3(KMT2D):c.15640C>A (p.Arg5214Ser) 398123728 MedGen:CN169374 12 49420109 49420109 G T 100084 single nucleotide variant NM_003482.3(KMT2D):c.15640C>A (p.Arg5214Ser) 398123728 MedGen:CN169374 12 49026326 49026326 G T 100085 single nucleotide variant NM_003482.3(KMT2D):c.15641G>A (p.Arg5214His) 398123729 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49420108 49420108 C T 100085 single nucleotide variant NM_003482.3(KMT2D):c.15641G>A (p.Arg5214His) 398123729 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49026325 49026325 C T 100086 single nucleotide variant NM_003482.3(KMT2D):c.15649T>C (p.Trp5217Arg) 398123730 MedGen:CN169374 12 49420100 49420100 A G 100086 single nucleotide variant NM_003482.3(KMT2D):c.15649T>C (p.Trp5217Arg) 398123730 MedGen:CN169374 12 49026317 49026317 A G 100087 single nucleotide variant NM_003482.3(KMT2D):c.15787G>A (p.Val5263Met) 398123731 MedGen:CN169374 12 49418727 49418727 C T 100087 single nucleotide variant NM_003482.3(KMT2D):c.15787G>A (p.Val5263Met) 398123731 MedGen:CN169374 12 49024944 49024944 C T 100088 deletion NM_003482.3(KMT2D):c.15953_15956delTATT (p.Leu5318Serfs) 398123732 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49418457 49418460 AATA - 100088 deletion NM_003482.3(KMT2D):c.15953_15956delTATT (p.Leu5318Serfs) 398123732 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49024674 49024677 AATA - 100089 single nucleotide variant NM_003482.3(KMT2D):c.15978T>G (p.Leu5326=) 55776396 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49418435 49418435 A C 100089 single nucleotide variant NM_003482.3(KMT2D):c.15978T>G (p.Leu5326=) 55776396 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49024652 49024652 A C 100090 deletion NM_003482.3(KMT2D):c.16109delG (p.Gly5370Alafs) 398123733 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49416602 49416602 C - 100090 deletion NM_003482.3(KMT2D):c.16109delG (p.Gly5370Alafs) 398123733 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49022819 49022819 C - 100091 single nucleotide variant NM_003482.3(KMT2D):c.16295G>A (p.Arg5432Gln) 398123734 MedGen:CN169374 12 49416416 49416416 C T 100091 single nucleotide variant NM_003482.3(KMT2D):c.16295G>A (p.Arg5432Gln) 398123734 MedGen:CN169374 12 49022633 49022633 C T 100092 indel NM_003482.3(KMT2D):c.16306_16322del17insC (p.Ala5436Glnfs) 398123735 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49416389 49416405 na G 100092 indel NM_003482.3(KMT2D):c.16306_16322del17insC (p.Ala5436Glnfs) 398123735 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49022606 49022622 na G 100093 deletion NM_003482.3(KMT2D):c.16412+16delG 34546217 MedGen:CN169374 12 49416047 49416047 C - 100093 deletion NM_003482.3(KMT2D):c.16412+16delG 34546217 MedGen:CN169374 12 49022264 49022264 C - 100094 single nucleotide variant NM_003482.3(KMT2D):c.1797G>A (p.Leu599=) 113282510 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49445669 49445669 C T 100094 single nucleotide variant NM_003482.3(KMT2D):c.1797G>A (p.Leu599=) 113282510 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49051886 49051886 C T 100095 single nucleotide variant NM_003482.3(KMT2D):c.1859C>G (p.Pro620Arg) 369076375 MedGen:CN169374 12 49445607 49445607 G C 100095 single nucleotide variant NM_003482.3(KMT2D):c.1859C>G (p.Pro620Arg) 369076375 MedGen:CN169374 12 49051824 49051824 G C 100096 single nucleotide variant NM_003482.3(KMT2D):c.1940C>A (p.Pro647Gln) 200088180 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49445526 49445526 G T 100096 single nucleotide variant NM_003482.3(KMT2D):c.1940C>A (p.Pro647Gln) 200088180 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49051743 49051743 G T 100097 single nucleotide variant NM_003482.3(KMT2D):c.2156C>T (p.Pro719Leu) 185660524 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49445310 49445310 G A 100097 single nucleotide variant NM_003482.3(KMT2D):c.2156C>T (p.Pro719Leu) 185660524 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49051527 49051527 G A 100098 single nucleotide variant NM_003482.3(KMT2D):c.2214C>T (p.Ser738=) 201219613 MedGen:CN169374 12 49445252 49445252 G A 100098 single nucleotide variant NM_003482.3(KMT2D):c.2214C>T (p.Ser738=) 201219613 MedGen:CN169374 12 49051469 49051469 G A 100099 deletion NM_003482.3(KMT2D):c.2232_2258del27 (p.Arg755_Pro763del) 398123736 MedGen:CN169374 12 49445208 49445234 na na 100099 deletion NM_003482.3(KMT2D):c.2232_2258del27 (p.Arg755_Pro763del) 398123736 MedGen:CN169374 12 49051425 49051451 na na 100100 single nucleotide variant NM_003482.3(KMT2D):c.2373G>A (p.Gln791=) 398123737 MedGen:CN169374 12 49445093 49445093 C T 100100 single nucleotide variant NM_003482.3(KMT2D):c.2373G>A (p.Gln791=) 398123737 MedGen:CN169374 12 49051310 49051310 C T 100101 deletion NM_003482.3(KMT2D):c.2428_2508del81 (p.Thr810_Gln836del) -1 MedGen:CN169374 12 49444958 49445038 na na 100101 deletion NM_003482.3(KMT2D):c.2428_2508del81 (p.Thr810_Gln836del) -1 MedGen:CN169374 12 49051175 49051255 na na 100102 single nucleotide variant NM_003482.3(KMT2D):c.2438C>T (p.Pro813Leu) 75226229 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49445028 49445028 G A 100102 single nucleotide variant NM_003482.3(KMT2D):c.2438C>T (p.Pro813Leu) 75226229 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49051245 49051245 G A 100103 single nucleotide variant NM_003482.3(KMT2D):c.248G>A (p.Arg83Gln) 55865069 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49448463 49448463 C T 100103 single nucleotide variant NM_003482.3(KMT2D):c.248G>A (p.Arg83Gln) 55865069 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49054680 49054680 C T 100104 single nucleotide variant NM_003482.3(KMT2D):c.2547G>A (p.Ser849=) 398123738 MedGen:CN169374 12 49444919 49444919 C T 100104 single nucleotide variant NM_003482.3(KMT2D):c.2547G>A (p.Ser849=) 398123738 MedGen:CN169374 12 49051136 49051136 C T 100105 single nucleotide variant NM_003482.3(KMT2D):c.2582C>G (p.Ser861Cys) 398123739 MedGen:CN169374 12 49444884 49444884 G C 100105 single nucleotide variant NM_003482.3(KMT2D):c.2582C>G (p.Ser861Cys) 398123739 MedGen:CN169374 12 49051101 49051101 G C 100106 single nucleotide variant NM_003482.3(KMT2D):c.2826C>T (p.Ile942=) 2241726 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49444545 49444545 G A 100106 single nucleotide variant NM_003482.3(KMT2D):c.2826C>T (p.Ile942=) 2241726 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49050762 49050762 G A 100107 single nucleotide variant NM_003482.3(KMT2D):c.2838G>A (p.Ala946=) 376753331 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49444533 49444533 C T 100107 single nucleotide variant NM_003482.3(KMT2D):c.2838G>A (p.Ala946=) 376753331 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49050750 49050750 C T 100108 single nucleotide variant NM_003482.3(KMT2D):c.2860T>C (p.Leu954=) 398123740 MedGen:CN169374 12 49444511 49444511 A G 100108 single nucleotide variant NM_003482.3(KMT2D):c.2860T>C (p.Leu954=) 398123740 MedGen:CN169374 12 49050728 49050728 A G 100109 single nucleotide variant NM_003482.3(KMT2D):c.2992C>A (p.Pro998Thr) 143711798 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49444379 49444379 G T 100109 single nucleotide variant NM_003482.3(KMT2D):c.2992C>A (p.Pro998Thr) 143711798 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49050596 49050596 G T 100110 single nucleotide variant NM_003482.3(KMT2D):c.3532C>T (p.Gln1178Ter) 398123741 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49443839 49443839 G A 100110 single nucleotide variant NM_003482.3(KMT2D):c.3532C>T (p.Gln1178Ter) 398123741 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49050056 49050056 G A 100111 single nucleotide variant NM_003482.3(KMT2D):c.3546T>G (p.Cys1182Trp) 398123742 MedGen:CN169374 12 49443825 49443825 A C 100111 single nucleotide variant NM_003482.3(KMT2D):c.3546T>G (p.Cys1182Trp) 398123742 MedGen:CN169374 12 49050042 49050042 A C 100112 deletion NM_003482.3(KMT2D):c.3834_3846delTATCAGCGGAGGC (p.Ile1279Lysfs) 398123743 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49443525 49443537 GCCTCCGCTGATA - 100112 deletion NM_003482.3(KMT2D):c.3834_3846delTATCAGCGGAGGC (p.Ile1279Lysfs) 398123743 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49049742 49049754 GCCTCCGCTGATA - 100113 single nucleotide variant NM_003482.3(KMT2D):c.4020+13C>G 184377216 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49442875 49442875 G C 100113 single nucleotide variant NM_003482.3(KMT2D):c.4020+13C>G 184377216 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49049092 49049092 G C 100114 deletion NM_003482.3(KMT2D):c.4021-11_4021-10delCT 55776244 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49442562 49442563 AG - 100114 deletion NM_003482.3(KMT2D):c.4021-11_4021-10delCT 55776244 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49048779 49048780 AG - 100115 single nucleotide variant NM_003482.3(KMT2D):c.4056G>A (p.Glu1352=) 373063485 MedGen:CN169374 12 49442517 49442517 C T 100115 single nucleotide variant NM_003482.3(KMT2D):c.4056G>A (p.Glu1352=) 373063485 MedGen:CN169374 12 49048734 49048734 C T 100116 deletion NM_003482.3(KMT2D):c.4135_4136delAT (p.Met1379Valfs) 398123744 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49441848 49441849 AT - 100116 deletion NM_003482.3(KMT2D):c.4135_4136delAT (p.Met1379Valfs) 398123744 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49048065 49048066 AT - 100117 single nucleotide variant NM_003482.3(KMT2D):c.4143G>A (p.Val1381=) 398123745 MedGen:CN169374 12 49441841 49441841 C T 100117 single nucleotide variant NM_003482.3(KMT2D):c.4143G>A (p.Val1381=) 398123745 MedGen:CN169374 12 49048058 49048058 C T 100118 single nucleotide variant NM_003482.3(KMT2D):c.4342T>C (p.Cys1448Arg) 398123746 MedGen:CN169374 12 49440468 49440468 A G 100118 single nucleotide variant NM_003482.3(KMT2D):c.4342T>C (p.Cys1448Arg) 398123746 MedGen:CN169374 12 49046685 49046685 A G 100119 single nucleotide variant NM_003482.3(KMT2D):c.4742-5T>G 201912948 MedGen:CN169374 12 49438753 49438753 A C 100119 single nucleotide variant NM_003482.3(KMT2D):c.4742-5T>G 201912948 MedGen:CN169374 12 49044970 49044970 A C 100120 single nucleotide variant NM_003482.3(KMT2D):c.477T>G (p.Gly159=) 398123747 MedGen:CN169374 12 49448123 49448123 A C 100120 single nucleotide variant NM_003482.3(KMT2D):c.477T>G (p.Gly159=) 398123747 MedGen:CN169374 12 49054340 49054340 A C 100121 single nucleotide variant NM_003482.3(KMT2D):c.4986C>T (p.Cys1662=) 143063879 MedGen:CN169374 12 49438283 49438283 G A 100121 single nucleotide variant NM_003482.3(KMT2D):c.4986C>T (p.Cys1662=) 143063879 MedGen:CN169374 12 49044500 49044500 G A 100122 single nucleotide variant NM_003482.3(KMT2D):c.5016T>C (p.Pro1672=) 114731584 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49438253 49438253 A G 100122 single nucleotide variant NM_003482.3(KMT2D):c.5016T>C (p.Pro1672=) 114731584 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49044470 49044470 A G 100123 single nucleotide variant NM_003482.3(KMT2D):c.5084-27C>T 398123748 MedGen:CN169374 12 49438114 49438114 G A 100123 single nucleotide variant NM_003482.3(KMT2D):c.5084-27C>T 398123748 MedGen:CN169374 12 49044331 49044331 G A 100124 single nucleotide variant NM_003482.3(KMT2D):c.510+45T>G 370735843 MedGen:CN169374 12 49448045 49448045 A C 100124 single nucleotide variant NM_003482.3(KMT2D):c.510+45T>G 370735843 MedGen:CN169374 12 49054262 49054262 A C 100125 single nucleotide variant NM_003482.3(KMT2D):c.5124A>G (p.Thr1708=) 374724784 MedGen:CN169374 12 49438047 49438047 T C 100125 single nucleotide variant NM_003482.3(KMT2D):c.5124A>G (p.Thr1708=) 374724784 MedGen:CN169374 12 49044264 49044264 T C 100126 single nucleotide variant NM_003482.3(KMT2D):c.5217C>T (p.Gly1739=) 111924728 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49437753 49437753 G A 100126 single nucleotide variant NM_003482.3(KMT2D):c.5217C>T (p.Gly1739=) 111924728 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49043970 49043970 G A 100127 single nucleotide variant NM_003482.3(KMT2D):c.5319+3G>A 372897046 MedGen:CN169374 12 49437648 49437648 C T 100127 single nucleotide variant NM_003482.3(KMT2D):c.5319+3G>A 372897046 MedGen:CN169374 12 49043865 49043865 C T 100128 single nucleotide variant NM_003482.3(KMT2D):c.5467+19A>C 78764337 MedGen:CN169374 12 49437399 49437399 T G 100128 single nucleotide variant NM_003482.3(KMT2D):c.5467+19A>C 78764337 MedGen:CN169374 12 49043616 49043616 T G 100129 single nucleotide variant NM_003482.3(KMT2D):c.5645-17C>T 398123749 MedGen:CN169374 12 49436678 49436678 G A 100129 single nucleotide variant NM_003482.3(KMT2D):c.5645-17C>T 398123749 MedGen:CN169374 12 49042895 49042895 G A 100130 single nucleotide variant NM_003482.3(KMT2D):c.5645-2A>G 398123750 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49436663 49436663 T C 100130 single nucleotide variant NM_003482.3(KMT2D):c.5645-2A>G 398123750 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49042880 49042880 T C 100131 single nucleotide variant NM_003482.3(KMT2D):c.5868-8C>T 75783546 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49436121 49436121 G A 100131 single nucleotide variant NM_003482.3(KMT2D):c.5868-8C>T 75783546 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49042338 49042338 G A 100132 deletion NM_003482.3(KMT2D):c.5908_5915delGACAGCCC (p.Asp1970Leufs) 398123751 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49436066 49436073 GGGCTGTC - 100132 deletion NM_003482.3(KMT2D):c.5908_5915delGACAGCCC (p.Asp1970Leufs) 398123751 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49042283 49042290 GGGCTGTC - 100133 single nucleotide variant NM_003482.3(KMT2D):c.5976G>A (p.Glu1992=) 77794669 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49436005 49436005 C T 100133 single nucleotide variant NM_003482.3(KMT2D):c.5976G>A (p.Glu1992=) 77794669 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49042222 49042222 C T 100134 single nucleotide variant NM_003482.3(KMT2D):c.6264C>T (p.Thr2088=) 370414767 MedGen:CN169374 12 49435289 49435289 G A 100134 single nucleotide variant NM_003482.3(KMT2D):c.6264C>T (p.Thr2088=) 370414767 MedGen:CN169374 12 49041506 49041506 G A 100135 single nucleotide variant NM_003482.3(KMT2D):c.6266A>T (p.Lys2089Met) 398123752 MedGen:CN169374 12 49435287 49435287 T A 100135 single nucleotide variant NM_003482.3(KMT2D):c.6266A>T (p.Lys2089Met) 398123752 MedGen:CN169374 12 49041504 49041504 T A 100136 single nucleotide variant NM_003482.3(KMT2D):c.6354C>T (p.Pro2118=) 377392943 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49435199 49435199 G A 100136 single nucleotide variant NM_003482.3(KMT2D):c.6354C>T (p.Pro2118=) 377392943 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49041416 49041416 G A 100137 single nucleotide variant NM_003482.3(KMT2D):c.6435G>A (p.Pro2145=) 374077422 MedGen:CN169374 12 49435118 49435118 C T 100137 single nucleotide variant NM_003482.3(KMT2D):c.6435G>A (p.Pro2145=) 374077422 MedGen:CN169374 12 49041335 49041335 C T 100138 single nucleotide variant NM_003482.3(KMT2D):c.6573G>A (p.Thr2191=) 202085637 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN030661,OMIM:147920;MedGen:CN169374 12 49434980 49434980 C T 100138 single nucleotide variant NM_003482.3(KMT2D):c.6573G>A (p.Thr2191=) 202085637 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN030661,OMIM:147920;MedGen:CN169374 12 49041197 49041197 C T 100139 deletion NM_003482.3(KMT2D):c.6595delT (p.Tyr2199Ilefs) 398123753 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49434958 49434958 A - 100139 deletion NM_003482.3(KMT2D):c.6595delT (p.Tyr2199Ilefs) 398123753 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49041175 49041175 A - 100140 single nucleotide variant NM_003482.3(KMT2D):c.6629C>T (p.Pro2210Leu) 201190869 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49434924 49434924 G A 100140 single nucleotide variant NM_003482.3(KMT2D):c.6629C>T (p.Pro2210Leu) 201190869 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49041141 49041141 G A 100141 single nucleotide variant NM_003482.3(KMT2D):c.6699C>T (p.Thr2233=) 398123754 MedGen:CN169374 12 49434854 49434854 G A 100141 single nucleotide variant NM_003482.3(KMT2D):c.6699C>T (p.Thr2233=) 398123754 MedGen:CN169374 12 49041071 49041071 G A 100142 single nucleotide variant NM_003482.3(KMT2D):c.6752C>T (p.Ser2251Leu) 189199944 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49434801 49434801 G A 100142 single nucleotide variant NM_003482.3(KMT2D):c.6752C>T (p.Ser2251Leu) 189199944 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49041018 49041018 G A 100143 single nucleotide variant NM_003482.3(KMT2D):c.6978C>G (p.Val2326=) 398123755 MedGen:CN169374 12 49434575 49434575 G C 100143 single nucleotide variant NM_003482.3(KMT2D):c.6978C>G (p.Val2326=) 398123755 MedGen:CN169374 12 49040792 49040792 G C 100144 single nucleotide variant NM_003482.3(KMT2D):c.7035G>A (p.Leu2345=) 398123756 MedGen:CN169374 12 49434518 49434518 C T 100144 single nucleotide variant NM_003482.3(KMT2D):c.7035G>A (p.Leu2345=) 398123756 MedGen:CN169374 12 49040735 49040735 C T 100145 single nucleotide variant NM_003482.3(KMT2D):c.7066C>T (p.Gln2356Ter) 398123757 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49434487 49434487 G A 100145 single nucleotide variant NM_003482.3(KMT2D):c.7066C>T (p.Gln2356Ter) 398123757 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49040704 49040704 G A 100146 deletion NM_003482.3(KMT2D):c.7140delG (p.Gln2380Hisfs) 398123758 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49434413 49434413 C - 100146 deletion NM_003482.3(KMT2D):c.7140delG (p.Gln2380Hisfs) 398123758 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49040630 49040630 C - 100147 single nucleotide variant NM_003482.3(KMT2D):c.7144C>T (p.Pro2382Ser) 3741626 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49434409 49434409 G A 100147 single nucleotide variant NM_003482.3(KMT2D):c.7144C>T (p.Pro2382Ser) 3741626 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49040626 49040626 G A 100148 single nucleotide variant NM_003482.3(KMT2D):c.7479G>T (p.Gly2493=) 10747559 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49434074 49434074 C A 100148 single nucleotide variant NM_003482.3(KMT2D):c.7479G>T (p.Gly2493=) 10747559 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49040291 49040291 C A 100149 single nucleotide variant NM_003482.3(KMT2D):c.756C>T (p.His252=) 398123759 MedGen:CN169374 12 49447342 49447342 G A 100149 single nucleotide variant NM_003482.3(KMT2D):c.756C>T (p.His252=) 398123759 MedGen:CN169374 12 49053559 49053559 G A 100150 single nucleotide variant NM_003482.3(KMT2D):c.7670C>T (p.Pro2557Leu) 189888707 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49433883 49433883 G A 100150 single nucleotide variant NM_003482.3(KMT2D):c.7670C>T (p.Pro2557Leu) 189888707 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49040100 49040100 G A 100151 single nucleotide variant NM_003482.3(KMT2D):c.7795G>A (p.Gly2599Arg) 398123760 MedGen:CN169374 12 49433758 49433758 C T 100151 single nucleotide variant NM_003482.3(KMT2D):c.7795G>A (p.Gly2599Arg) 398123760 MedGen:CN169374 12 49039975 49039975 C T 100152 single nucleotide variant NM_003482.3(KMT2D):c.7839G>A (p.Pro2613=) 370627714 MedGen:CN169374 12 49433714 49433714 C T 100152 single nucleotide variant NM_003482.3(KMT2D):c.7839G>A (p.Pro2613=) 370627714 MedGen:CN169374 12 49039931 49039931 C T 100153 single nucleotide variant NM_003482.3(KMT2D):c.7954A>C (p.Met2652Leu) 147706410 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49433599 49433599 T G 100153 single nucleotide variant NM_003482.3(KMT2D):c.7954A>C (p.Met2652Leu) 147706410 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49039816 49039816 T G 100154 single nucleotide variant NM_003482.3(KMT2D):c.8046+11A>G 145186737 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49433496 49433496 T C 100154 single nucleotide variant NM_003482.3(KMT2D):c.8046+11A>G 145186737 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49039713 49039713 T C 100155 single nucleotide variant NM_003482.3(KMT2D):c.8047-15C>T 201452917 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49433415 49433415 G A 100155 single nucleotide variant NM_003482.3(KMT2D):c.8047-15C>T 201452917 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49039632 49039632 G A 100156 single nucleotide variant NM_003482.3(KMT2D):c.8064G>A (p.Glu2688=) 148457961 MedGen:CN030661,OMIM:147920;MedGen:CN169374 12 49433383 49433383 C T 100156 single nucleotide variant NM_003482.3(KMT2D):c.8064G>A (p.Glu2688=) 148457961 MedGen:CN030661,OMIM:147920;MedGen:CN169374 12 49039600 49039600 C T 100157 single nucleotide variant NM_003482.3(KMT2D):c.8091C>T (p.Arg2697=) 116686402 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49433356 49433356 G A 100157 single nucleotide variant NM_003482.3(KMT2D):c.8091C>T (p.Arg2697=) 116686402 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49039573 49039573 G A 100158 indel NM_003482.3(KMT2D):c.8148_8149delTCinsCT (p.Pro2717Ser) 398123761 MedGen:CN169374 12 49433298 49433299 GA AG 100158 indel NM_003482.3(KMT2D):c.8148_8149delTCinsCT (p.Pro2717Ser) 398123761 MedGen:CN169374 12 49039515 49039516 GA AG 100159 single nucleotide variant NM_003482.3(KMT2D):c.8288C>T (p.Pro2763Leu) 398123762 MedGen:CN169374 12 49433083 49433083 G A 100159 single nucleotide variant NM_003482.3(KMT2D):c.8288C>T (p.Pro2763Leu) 398123762 MedGen:CN169374 12 49039300 49039300 G A 100160 single nucleotide variant NM_003482.3(KMT2D):c.8774C>T (p.Ala2925Val) 199547661 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN030661,OMIM:147920;MedGen:CN169374 12 49432365 49432365 G A 100160 single nucleotide variant NM_003482.3(KMT2D):c.8774C>T (p.Ala2925Val) 199547661 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN030661,OMIM:147920;MedGen:CN169374 12 49038582 49038582 G A 138414 single nucleotide variant NM_003482.3(KMT2D):c.4030A>G (p.Ile1344Val) 574134747 MedGen:CN169374 12 49442543 49442543 T C 138399 deletion NM_003482.3(KMT2D):c.1677_1703del27 (p.Glu560_Glu568del) 587778448 MedGen:CN169374 12 49445763 49445789 TCAGGTGGCGGGGAAGTGGGCAATTCC - 138399 deletion NM_003482.3(KMT2D):c.1677_1703del27 (p.Glu560_Glu568del) 587778448 MedGen:CN169374 12 49051980 49052006 na na 138400 deletion NM_003482.3(KMT2D):c.2250_2276del27 (p.Arg755_Pro763del) 587778449 MedGen:CN030661,OMIM:147920;MedGen:CN169374 12 49445190 49445216 GGCTCCTCAGGCCGGGGGGACAGGTGC - 138400 deletion NM_003482.3(KMT2D):c.2250_2276del27 (p.Arg755_Pro763del) 587778449 MedGen:CN030661,OMIM:147920;MedGen:CN169374 12 49051407 49051433 na na 138401 single nucleotide variant NM_003482.3(KMT2D):c.1579C>T (p.Pro527Ser) 587778450 MedGen:CN169374 12 49445887 49445887 G A 138401 single nucleotide variant NM_003482.3(KMT2D):c.1579C>T (p.Pro527Ser) 587778450 MedGen:CN169374 12 49052104 49052104 G A 138402 single nucleotide variant NM_003482.3(KMT2D):c.1672C>T (p.Pro558Ser) 587778451 MedGen:CN169374 12 49445794 49445794 G A 138402 single nucleotide variant NM_003482.3(KMT2D):c.1672C>T (p.Pro558Ser) 587778451 MedGen:CN169374 12 49052011 49052011 G A 138403 single nucleotide variant NM_003482.3(KMT2D):c.2074C>A (p.Pro692Thr) 202076833 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN221809;MedGen:CN169374 12 49445392 49445392 G T 138403 single nucleotide variant NM_003482.3(KMT2D):c.2074C>A (p.Pro692Thr) 202076833 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN221809;MedGen:CN169374 12 49051609 49051609 G T 138404 single nucleotide variant NM_003482.3(KMT2D):c.2186C>T (p.Pro729Leu) 587778452 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49445280 49445280 G A 138404 single nucleotide variant NM_003482.3(KMT2D):c.2186C>T (p.Pro729Leu) 587778452 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49051497 49051497 G A 138405 single nucleotide variant NM_003482.3(KMT2D):c.2222C>T (p.Pro741Leu) 587778453 MedGen:CN169374 12 49445244 49445244 G A 138405 single nucleotide variant NM_003482.3(KMT2D):c.2222C>T (p.Pro741Leu) 587778453 MedGen:CN169374 12 49051461 49051461 G A 138406 single nucleotide variant NM_003482.3(KMT2D):c.2546C>T (p.Ser849Leu) 370492566 MedGen:CN169374 12 49444920 49444920 G A 138406 single nucleotide variant NM_003482.3(KMT2D):c.2546C>T (p.Ser849Leu) 370492566 MedGen:CN169374 12 49051137 49051137 G A 138407 single nucleotide variant NM_003482.3(KMT2D):c.2656C>A (p.Pro886Thr) 199946966 MedGen:CN169374 12 49444810 49444810 G T 138407 single nucleotide variant NM_003482.3(KMT2D):c.2656C>A (p.Pro886Thr) 199946966 MedGen:CN169374 12 49051027 49051027 G T 138408 single nucleotide variant NM_003482.3(KMT2D):c.2656C>G (p.Pro886Ala) 199946966 MedGen:CN169374 12 49444810 49444810 G C 138408 single nucleotide variant NM_003482.3(KMT2D):c.2656C>G (p.Pro886Ala) 199946966 MedGen:CN169374 12 49051027 49051027 G C 138409 indel NM_003482.3(KMT2D):c.3180_3181delGGinsTT (p.Lys1060_Val1061delinsAsnLeu) 587778454 MedGen:CN169374 12 49444190 49444191 CC AA 138409 indel NM_003482.3(KMT2D):c.3180_3181delGGinsTT (p.Lys1060_Val1061delinsAsnLeu) 587778454 MedGen:CN169374 12 49050407 49050408 CC AA 138410 single nucleotide variant NM_003482.3(KMT2D):c.3902A>G (p.Lys1301Arg) 587778455 MedGen:CN169374 12 49443469 49443469 T C 138410 single nucleotide variant NM_003482.3(KMT2D):c.3902A>G (p.Lys1301Arg) 587778455 MedGen:CN169374 12 49049686 49049686 T C 138411 single nucleotide variant NM_003482.3(KMT2D):c.3392C>T (p.Pro1131Leu) 201623566 MedGen:CN169374 12 49443979 49443979 G A 138411 single nucleotide variant NM_003482.3(KMT2D):c.3392C>T (p.Pro1131Leu) 201623566 MedGen:CN169374 12 49050196 49050196 G A 138412 single nucleotide variant NM_003482.3(KMT2D):c.3572C>T (p.Pro1191Leu) 112236653 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49443799 49443799 G A 138412 single nucleotide variant NM_003482.3(KMT2D):c.3572C>T (p.Pro1191Leu) 112236653 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49050016 49050016 G A 138413 deletion NM_003482.3(KMT2D):c.3993_3995delAAC (p.Thr1332del) 587778456 MedGen:CN169374 12 49442913 49442915 GTT - 138413 deletion NM_003482.3(KMT2D):c.3993_3995delAAC (p.Thr1332del) 587778456 MedGen:CN169374 12 49049130 49049132 GTT - 138414 single nucleotide variant NM_003482.3(KMT2D):c.4030A>G (p.Ile1344Val) 574134747 MedGen:CN169374 12 49048760 49048760 T C 138415 single nucleotide variant NM_003482.3(KMT2D):c.5129C>T (p.Thr1710Met) 587778457 MedGen:CN169374 12 49438042 49438042 G A 138415 single nucleotide variant NM_003482.3(KMT2D):c.5129C>T (p.Thr1710Met) 587778457 MedGen:CN169374 12 49044259 49044259 G A 138416 single nucleotide variant NM_003482.3(KMT2D):c.5207C>G (p.Pro1736Arg) 587778458 MedGen:CN169374 12 49437763 49437763 G C 138416 single nucleotide variant NM_003482.3(KMT2D):c.5207C>G (p.Pro1736Arg) 587778458 MedGen:CN169374 12 49043980 49043980 G C 138417 single nucleotide variant NM_003482.3(KMT2D):c.5386C>T (p.Arg1796Trp) 186948725 MedGen:CN169374 12 49437499 49437499 G A 138417 single nucleotide variant NM_003482.3(KMT2D):c.5386C>T (p.Arg1796Trp) 186948725 MedGen:CN169374 12 49043716 49043716 G A 138418 single nucleotide variant NM_003482.3(KMT2D):c.5477G>T (p.Gly1826Val) 574989512 MedGen:CN169374 12 49437202 49437202 C A 138418 single nucleotide variant NM_003482.3(KMT2D):c.5477G>T (p.Gly1826Val) 574989512 MedGen:CN169374 12 49043419 49043419 C A 138419 single nucleotide variant NM_003482.3(KMT2D):c.5504G>T (p.Arg1835Leu) 368134008 MedGen:CN169374 12 49437175 49437175 C A 138419 single nucleotide variant NM_003482.3(KMT2D):c.5504G>T (p.Arg1835Leu) 368134008 MedGen:CN169374 12 49043392 49043392 C A 138420 single nucleotide variant NM_003482.3(KMT2D):c.5546G>A (p.Gly1849Glu) 587778459 MedGen:CN169374 12 49436957 49436957 C T 138420 single nucleotide variant NM_003482.3(KMT2D):c.5546G>A (p.Gly1849Glu) 587778459 MedGen:CN169374 12 49043174 49043174 C T 138421 single nucleotide variant NM_003482.3(KMT2D):c.5732C>A (p.Thr1911Asn) 587778460 MedGen:CN169374 12 49436574 49436574 G T 138421 single nucleotide variant NM_003482.3(KMT2D):c.5732C>A (p.Thr1911Asn) 587778460 MedGen:CN169374 12 49042791 49042791 G T 138422 single nucleotide variant NM_003482.3(KMT2D):c.5753G>A (p.Arg1918His) 587778461 MedGen:CN169374 12 49436553 49436553 C T 138422 single nucleotide variant NM_003482.3(KMT2D):c.5753G>A (p.Arg1918His) 587778461 MedGen:CN169374 12 49042770 49042770 C T 138423 single nucleotide variant NM_003482.3(KMT2D):c.191G>A (p.Arg64Gln) 587778462 MedGen:CN169374 12 49448520 49448520 C T 138423 single nucleotide variant NM_003482.3(KMT2D):c.191G>A (p.Arg64Gln) 587778462 MedGen:CN169374 12 49054737 49054737 C T 138424 single nucleotide variant NM_003482.3(KMT2D):c.305G>A (p.Ser102Asn) 368471915 MedGen:CN169374 12 49448406 49448406 C T 138424 single nucleotide variant NM_003482.3(KMT2D):c.305G>A (p.Ser102Asn) 368471915 MedGen:CN169374 12 49054623 49054623 C T 138425 single nucleotide variant NM_003482.3(KMT2D):c.6319C>A (p.Pro2107Thr) 201977719 MedGen:CN169374 12 49435234 49435234 G T 138425 single nucleotide variant NM_003482.3(KMT2D):c.6319C>A (p.Pro2107Thr) 201977719 MedGen:CN169374 12 49041451 49041451 G T 138426 single nucleotide variant NM_003482.3(KMT2D):c.6392C>A (p.Thr2131Asn) 587778463 MedGen:CN169374 12 49435161 49435161 G T 138426 single nucleotide variant NM_003482.3(KMT2D):c.6392C>A (p.Thr2131Asn) 587778463 MedGen:CN169374 12 49041378 49041378 G T 138427 single nucleotide variant NM_003482.3(KMT2D):c.6740C>G (p.Pro2247Arg) 587778464 MedGen:CN169374 12 49434813 49434813 G C 138427 single nucleotide variant NM_003482.3(KMT2D):c.6740C>G (p.Pro2247Arg) 587778464 MedGen:CN169374 12 49041030 49041030 G C 138428 single nucleotide variant NM_003482.3(KMT2D):c.6811C>T (p.Pro2271Ser) 199802471 MedGen:CN169374 12 49434742 49434742 G A 138428 single nucleotide variant NM_003482.3(KMT2D):c.6811C>T (p.Pro2271Ser) 199802471 MedGen:CN169374 12 49040959 49040959 G A 138429 single nucleotide variant NM_003482.3(KMT2D):c.6812C>T (p.Pro2271Leu) 587778465 MedGen:CN169374 12 49434741 49434741 G A 138429 single nucleotide variant NM_003482.3(KMT2D):c.6812C>T (p.Pro2271Leu) 587778465 MedGen:CN169374 12 49040958 49040958 G A 138430 single nucleotide variant NM_003482.3(KMT2D):c.6901C>T (p.Pro2301Ser) 200681496 MedGen:CN169374 12 49434652 49434652 G A 138430 single nucleotide variant NM_003482.3(KMT2D):c.6901C>T (p.Pro2301Ser) 200681496 MedGen:CN169374 12 49040869 49040869 G A 138431 single nucleotide variant NM_003482.3(KMT2D):c.7490C>T (p.Ala2497Val) 376603595 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49434063 49434063 G A 138431 single nucleotide variant NM_003482.3(KMT2D):c.7490C>T (p.Ala2497Val) 376603595 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49040280 49040280 G A 138432 single nucleotide variant NM_003482.3(KMT2D):c.6284G>A (p.Arg2095His) 374216845 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49435269 49435269 C T 138432 single nucleotide variant NM_003482.3(KMT2D):c.6284G>A (p.Arg2095His) 374216845 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49041486 49041486 C T 138433 single nucleotide variant NM_003482.3(KMT2D):c.6505G>A (p.Ala2169Thr) 369501280 MedGen:CN169374 12 49435048 49435048 C T 138433 single nucleotide variant NM_003482.3(KMT2D):c.6505G>A (p.Ala2169Thr) 369501280 MedGen:CN169374 12 49041265 49041265 C T 138434 single nucleotide variant NM_003482.3(KMT2D):c.6836G>A (p.Gly2279Glu) 200578414 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49434717 49434717 C T 138434 single nucleotide variant NM_003482.3(KMT2D):c.6836G>A (p.Gly2279Glu) 200578414 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49040934 49040934 C T 138435 single nucleotide variant NM_003482.3(KMT2D):c.7229G>A (p.Arg2410Gln) 587778466 MedGen:CN169374 12 49434324 49434324 C T 138435 single nucleotide variant NM_003482.3(KMT2D):c.7229G>A (p.Arg2410Gln) 587778466 MedGen:CN169374 12 49040541 49040541 C T 138436 single nucleotide variant NM_003482.3(KMT2D):c.7705G>A (p.Gly2569Ser) 201507971 MedGen:CN030661,OMIM:147920;MedGen:CN169374 12 49433848 49433848 C T 138436 single nucleotide variant NM_003482.3(KMT2D):c.7705G>A (p.Gly2569Ser) 201507971 MedGen:CN030661,OMIM:147920;MedGen:CN169374 12 49040065 49040065 C T 138437 single nucleotide variant NM_003482.3(KMT2D):c.6317T>C (p.Ile2106Thr) 587778467 MedGen:CN169374 12 49435236 49435236 A G 138437 single nucleotide variant NM_003482.3(KMT2D):c.6317T>C (p.Ile2106Thr) 587778467 MedGen:CN169374 12 49041453 49041453 A G 138438 single nucleotide variant NM_003482.3(KMT2D):c.6445T>C (p.Ser2149Pro) 587778468 MedGen:CN169374 12 49435108 49435108 A G 138438 single nucleotide variant NM_003482.3(KMT2D):c.6445T>C (p.Ser2149Pro) 587778468 MedGen:CN169374 12 49041325 49041325 A G 138439 single nucleotide variant NM_003482.3(KMT2D):c.6643T>A (p.Ser2215Thr) 200080744 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49434910 49434910 A T 138439 single nucleotide variant NM_003482.3(KMT2D):c.6643T>A (p.Ser2215Thr) 200080744 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49041127 49041127 A T 138440 single nucleotide variant NM_003482.3(KMT2D):c.6832T>G (p.Phe2278Val) 587778469 MedGen:CN169374 12 49434721 49434721 A C 138440 single nucleotide variant NM_003482.3(KMT2D):c.6832T>G (p.Phe2278Val) 587778469 MedGen:CN169374 12 49040938 49040938 A C 138441 single nucleotide variant NM_003482.3(KMT2D):c.8006T>G (p.Met2669Arg) 372520829 MedGen:CN169374 12 49433547 49433547 A C 138441 single nucleotide variant NM_003482.3(KMT2D):c.8006T>G (p.Met2669Arg) 372520829 MedGen:CN169374 12 49039764 49039764 A C 138443 single nucleotide variant NM_003482.3(KMT2D):c.9418A>G (p.Lys3140Glu) 587778470 MedGen:CN169374 12 49431721 49431721 T C 138443 single nucleotide variant NM_003482.3(KMT2D):c.9418A>G (p.Lys3140Glu) 587778470 MedGen:CN169374 12 49037938 49037938 T C 138444 single nucleotide variant NM_003482.3(KMT2D):c.10024C>T (p.Arg3342Cys) 371869550 MedGen:CN169374 12 49431115 49431115 G A 138444 single nucleotide variant NM_003482.3(KMT2D):c.10024C>T (p.Arg3342Cys) 371869550 MedGen:CN169374 12 49037332 49037332 G A 138445 single nucleotide variant NM_003482.3(KMT2D):c.9343C>T (p.Leu3115Phe) 587778471 MedGen:CN169374 12 49431796 49431796 G A 138445 single nucleotide variant NM_003482.3(KMT2D):c.9343C>T (p.Leu3115Phe) 587778471 MedGen:CN169374 12 49038013 49038013 G A 138446 single nucleotide variant NM_003482.3(KMT2D):c.9662C>A (p.Thr3221Asn) 200601717 MedGen:CN221809;MedGen:CN169374 12 49431477 49431477 G T 138446 single nucleotide variant NM_003482.3(KMT2D):c.9662C>A (p.Thr3221Asn) 200601717 MedGen:CN221809;MedGen:CN169374 12 49037694 49037694 G T 138447 single nucleotide variant NM_003482.3(KMT2D):c.8695G>A (p.Gly2899Ser) 587778472 MedGen:CN169374 12 49432444 49432444 C T 138447 single nucleotide variant NM_003482.3(KMT2D):c.8695G>A (p.Gly2899Ser) 587778472 MedGen:CN169374 12 49038661 49038661 C T 138448 single nucleotide variant NM_003482.3(KMT2D):c.9482T>C (p.Met3161Thr) 199831827 MedGen:CN169374 12 49431657 49431657 A G 138448 single nucleotide variant NM_003482.3(KMT2D):c.9482T>C (p.Met3161Thr) 199831827 MedGen:CN169374 12 49037874 49037874 A G 138449 single nucleotide variant NM_003482.3(KMT2D):c.10966C>T (p.Arg3656Cys) 201283589 MedGen:CN169374 12 49427522 49427522 G A 138449 single nucleotide variant NM_003482.3(KMT2D):c.10966C>T (p.Arg3656Cys) 201283589 MedGen:CN169374 12 49033739 49033739 G A 138461 single nucleotide variant NM_003482.3(KMT2D):c.13582G>A (p.Ala4528Thr) 587778480 MedGen:CN169374 12 49030982 49030982 C T 138450 single nucleotide variant NM_003482.3(KMT2D):c.10993C>G (p.Pro3665Ala) 112170602 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN030661,OMIM:147920;MedGen:CN169374 12 49427495 49427495 G C 138450 single nucleotide variant NM_003482.3(KMT2D):c.10993C>G (p.Pro3665Ala) 112170602 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN030661,OMIM:147920;MedGen:CN169374 12 49033712 49033712 G C 138451 single nucleotide variant NM_003482.3(KMT2D):c.11875C>A (p.Gln3959Lys) 587778473 MedGen:CN169374 12 49426613 49426613 G T 138451 single nucleotide variant NM_003482.3(KMT2D):c.11875C>A (p.Gln3959Lys) 587778473 MedGen:CN169374 12 49032830 49032830 G T 138452 single nucleotide variant NM_003482.3(KMT2D):c.12800C>T (p.Pro4267Leu) 587778474 MedGen:CN169374 12 49425688 49425688 G A 138452 single nucleotide variant NM_003482.3(KMT2D):c.12800C>T (p.Pro4267Leu) 587778474 MedGen:CN169374 12 49031905 49031905 G A 138453 single nucleotide variant NM_003482.3(KMT2D):c.13009C>G (p.Pro4337Ala) 587778475 MedGen:CN169374 12 49425479 49425479 G C 138453 single nucleotide variant NM_003482.3(KMT2D):c.13009C>G (p.Pro4337Ala) 587778475 MedGen:CN169374 12 49031696 49031696 G C 138454 single nucleotide variant NM_003482.3(KMT2D):c.10987G>A (p.Ala3663Thr) 587778476 MedGen:CN169374 12 49427501 49427501 C T 138454 single nucleotide variant NM_003482.3(KMT2D):c.10987G>A (p.Ala3663Thr) 587778476 MedGen:CN169374 12 49033718 49033718 C T 138455 single nucleotide variant NM_003482.3(KMT2D):c.11120G>A (p.Arg3707Gln) 587778477 MedGen:CN169374 12 49427368 49427368 C T 138455 single nucleotide variant NM_003482.3(KMT2D):c.11120G>A (p.Arg3707Gln) 587778477 MedGen:CN169374 12 49033585 49033585 C T 138456 single nucleotide variant NM_003482.3(KMT2D):c.11610G>A (p.Met3870Ile) 73302195 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49426878 49426878 C T 138456 single nucleotide variant NM_003482.3(KMT2D):c.11610G>A (p.Met3870Ile) 73302195 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49033095 49033095 C T 138457 single nucleotide variant NM_003482.3(KMT2D):c.12139G>A (p.Gly4047Arg) 587778478 MedGen:CN169374 12 49426349 49426349 C T 138457 single nucleotide variant NM_003482.3(KMT2D):c.12139G>A (p.Gly4047Arg) 587778478 MedGen:CN169374 12 49032566 49032566 C T 138458 single nucleotide variant NM_003482.3(KMT2D):c.12980G>A (p.Ser4327Asn) 587778479 MedGen:CN169374 12 49425508 49425508 C T 138458 single nucleotide variant NM_003482.3(KMT2D):c.12980G>A (p.Ser4327Asn) 587778479 MedGen:CN169374 12 49031725 49031725 C T 138459 single nucleotide variant NM_003482.3(KMT2D):c.13081G>A (p.Ala4361Thr) 201938646 MedGen:CN169374 12 49425407 49425407 C T 138459 single nucleotide variant NM_003482.3(KMT2D):c.13081G>A (p.Ala4361Thr) 201938646 MedGen:CN169374 12 49031624 49031624 C T 138460 single nucleotide variant NM_003482.3(KMT2D):c.13220T>C (p.Val4407Ala) 185126345 MedGen:CN169374 12 49425268 49425268 A G 138460 single nucleotide variant NM_003482.3(KMT2D):c.13220T>C (p.Val4407Ala) 185126345 MedGen:CN169374 12 49031485 49031485 A G 138461 single nucleotide variant NM_003482.3(KMT2D):c.13582G>A (p.Ala4528Thr) 587778480 MedGen:CN169374 12 49424765 49424765 C T 138462 single nucleotide variant NM_003482.3(KMT2D):c.13817A>G (p.Tyr4606Cys) 587778481 MedGen:CN169374 12 49424406 49424406 T C 138462 single nucleotide variant NM_003482.3(KMT2D):c.13817A>G (p.Tyr4606Cys) 587778481 MedGen:CN169374 12 49030623 49030623 T C 138463 single nucleotide variant NM_003482.3(KMT2D):c.13796C>T (p.Ala4599Val) 577303074 MedGen:CN169374 12 49424427 49424427 G A 138463 single nucleotide variant NM_003482.3(KMT2D):c.13796C>T (p.Ala4599Val) 577303074 MedGen:CN169374 12 49030644 49030644 G A 138464 single nucleotide variant NM_003482.3(KMT2D):c.13969T>C (p.Ser4657Pro) 587778482 MedGen:CN169374 12 49424093 49424093 A G 138464 single nucleotide variant NM_003482.3(KMT2D):c.13969T>C (p.Ser4657Pro) 587778482 MedGen:CN169374 12 49030310 49030310 A G 138465 single nucleotide variant NM_003482.3(KMT2D):c.14080G>C (p.Glu4694Gln) 587778483 MedGen:CN169374 12 49423015 49423015 C G 138465 single nucleotide variant NM_003482.3(KMT2D):c.14080G>C (p.Glu4694Gln) 587778483 MedGen:CN169374 12 49029232 49029232 C G 138466 single nucleotide variant NM_003482.3(KMT2D):c.15011A>T (p.Glu5004Val) 587778484 MedGen:CN169374 12 49420738 49420738 T A 138466 single nucleotide variant NM_003482.3(KMT2D):c.15011A>T (p.Glu5004Val) 587778484 MedGen:CN169374 12 49026955 49026955 T A 138467 single nucleotide variant NM_003482.3(KMT2D):c.14749C>T (p.Pro4917Ser) 587778485 MedGen:CN169374 12 49421000 49421000 G A 138467 single nucleotide variant NM_003482.3(KMT2D):c.14749C>T (p.Pro4917Ser) 587778485 MedGen:CN169374 12 49027217 49027217 G A 138468 single nucleotide variant NM_003482.3(KMT2D):c.15317G>A (p.Arg5106His) 587778486 MedGen:CN169374 12 49420432 49420432 C T 138468 single nucleotide variant NM_003482.3(KMT2D):c.15317G>A (p.Arg5106His) 587778486 MedGen:CN169374 12 49026649 49026649 C T 138469 single nucleotide variant NM_003482.3(KMT2D):c.15671G>A (p.Arg5224His) 3782356 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN030661,OMIM:147920;MedGen:CN169374 12 49420078 49420078 C T 138469 single nucleotide variant NM_003482.3(KMT2D):c.15671G>A (p.Arg5224His) 3782356 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN030661,OMIM:147920;MedGen:CN169374 12 49026295 49026295 C T 138470 single nucleotide variant NM_003482.3(KMT2D):c.15797G>A (p.Arg5266His) 201481646 MedGen:CN169374 12 49418717 49418717 C T 138470 single nucleotide variant NM_003482.3(KMT2D):c.15797G>A (p.Arg5266His) 201481646 MedGen:CN169374 12 49024934 49024934 C T 138471 single nucleotide variant NM_003482.3(KMT2D):c.553C>T (p.Arg185Cys) 201796530 MedGen:CN169374 12 49447881 49447881 G A 138471 single nucleotide variant NM_003482.3(KMT2D):c.553C>T (p.Arg185Cys) 201796530 MedGen:CN169374 12 49054098 49054098 G A 138472 single nucleotide variant NM_003482.3(KMT2D):c.1057C>A (p.Gln353Lys) 587778487 MedGen:CN169374 12 49446753 49446753 G T 138472 single nucleotide variant NM_003482.3(KMT2D):c.1057C>A (p.Gln353Lys) 587778487 MedGen:CN169374 12 49052970 49052970 G T 138473 single nucleotide variant NM_003482.3(KMT2D):c.1115T>A (p.Phe372Tyr) 367758673 MedGen:CN169374 12 49446490 49446490 A T 138473 single nucleotide variant NM_003482.3(KMT2D):c.1115T>A (p.Phe372Tyr) 367758673 MedGen:CN169374 12 49052707 49052707 A T 139347 deletion NM_003482.3(KMT2D):c.5166delT (p.Ser1722Argfs) 367537992 MedGen:CN221809 12 49438005 49438005 A - 139347 deletion NM_003482.3(KMT2D):c.5166delT (p.Ser1722Argfs) 367537992 MedGen:CN221809 12 49044222 49044222 A - 168898 deletion NM_003482.3(KMT2D):c.16489_16491delATC (p.Ile5497del) 587783704 MedGen:CN030661,OMIM:147920 12 49415856 49415858 GAT - 168898 deletion NM_003482.3(KMT2D):c.16489_16491delATC (p.Ile5497del) 587783704 MedGen:CN030661,OMIM:147920 12 49022073 49022075 GAT - 168899 deletion NM_003482.3(KMT2D):c.16438_16441delAACT (p.Asn5480Valfs) 587783703 MedGen:CN030661,OMIM:147920 12 49415906 49415909 AGTT - 168899 deletion NM_003482.3(KMT2D):c.16438_16441delAACT (p.Asn5480Valfs) 587783703 MedGen:CN030661,OMIM:147920 12 49022123 49022126 AGTT - 168900 single nucleotide variant NM_003482.3(KMT2D):c.16413G>T (p.Arg5471Ser) 587783702 MedGen:CN030661,OMIM:147920 12 49415934 49415934 C A 168900 single nucleotide variant NM_003482.3(KMT2D):c.16413G>T (p.Arg5471Ser) 587783702 MedGen:CN030661,OMIM:147920 12 49022151 49022151 C A 168901 single nucleotide variant NM_003482.3(KMT2D):c.16412+13G>A 587783701 MedGen:CN030661,OMIM:147920 12 49416050 49416050 C T 168901 single nucleotide variant NM_003482.3(KMT2D):c.16412+13G>A 587783701 MedGen:CN030661,OMIM:147920 12 49022267 49022267 C T 168902 single nucleotide variant NM_003482.3(KMT2D):c.16411A>T (p.Arg5471Trp) 587783700 MedGen:CN030661,OMIM:147920 12 49416064 49416064 T A 168902 single nucleotide variant NM_003482.3(KMT2D):c.16411A>T (p.Arg5471Trp) 587783700 MedGen:CN030661,OMIM:147920 12 49022281 49022281 T A 168903 single nucleotide variant NM_003482.3(KMT2D):c.15943C>T (p.Gln5315Ter) 587783699 MedGen:CN030661,OMIM:147920 12 49418470 49418470 G A 168903 single nucleotide variant NM_003482.3(KMT2D):c.15943C>T (p.Gln5315Ter) 587783699 MedGen:CN030661,OMIM:147920 12 49024687 49024687 G A 168904 single nucleotide variant NM_003482.3(KMT2D):c.15844C>T (p.Arg5282Ter) 587783698 MedGen:CN030661,OMIM:147920 12 49418670 49418670 G A 168904 single nucleotide variant NM_003482.3(KMT2D):c.15844C>T (p.Arg5282Ter) 587783698 MedGen:CN030661,OMIM:147920 12 49024887 49024887 G A 168905 single nucleotide variant NM_003482.3(KMT2D):c.15791G>A (p.Trp5264Ter) 587783697 MedGen:CN030661,OMIM:147920 12 49418723 49418723 C T 168905 single nucleotide variant NM_003482.3(KMT2D):c.15791G>A (p.Trp5264Ter) 587783697 MedGen:CN030661,OMIM:147920 12 49024940 49024940 C T 168906 single nucleotide variant NM_003482.3(KMT2D):c.15361G>T (p.Ala5121Ser) 79330925 MedGen:CN030661,OMIM:147920 12 49420388 49420388 C A 168906 single nucleotide variant NM_003482.3(KMT2D):c.15361G>T (p.Ala5121Ser) 79330925 MedGen:CN030661,OMIM:147920 12 49026605 49026605 C A 168907 single nucleotide variant NM_003482.3(KMT2D):c.15245T>G (p.Val5082Gly) 75031009 MedGen:CN030661,OMIM:147920 12 49420504 49420504 A C 168907 single nucleotide variant NM_003482.3(KMT2D):c.15245T>G (p.Val5082Gly) 75031009 MedGen:CN030661,OMIM:147920 12 49026721 49026721 A C 168908 single nucleotide variant NM_003482.3(KMT2D):c.15195G>A (p.Trp5065Ter) 587783696 MedGen:CN030661,OMIM:147920 12 49420554 49420554 C T 168908 single nucleotide variant NM_003482.3(KMT2D):c.15195G>A (p.Trp5065Ter) 587783696 MedGen:CN030661,OMIM:147920 12 49026771 49026771 C T 168909 single nucleotide variant NM_003482.3(KMT2D):c.15061C>T (p.Arg5021Ter) 587783695 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49420688 49420688 G A 168909 single nucleotide variant NM_003482.3(KMT2D):c.15061C>T (p.Arg5021Ter) 587783695 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49026905 49026905 G A 168910 single nucleotide variant NM_003482.3(KMT2D):c.14840C>A (p.Pro4947His) 587783694 MedGen:CN030661,OMIM:147920 12 49420909 49420909 G T 168910 single nucleotide variant NM_003482.3(KMT2D):c.14840C>A (p.Pro4947His) 587783694 MedGen:CN030661,OMIM:147920 12 49027126 49027126 G T 168911 deletion NM_003482.3(KMT2D):c.13996_13997delAG (p.Arg4666Glyfs) 587783693 MedGen:CN030661,OMIM:147920 12 49424065 49424066 CT - 168911 deletion NM_003482.3(KMT2D):c.13996_13997delAG (p.Arg4666Glyfs) 587783693 MedGen:CN030661,OMIM:147920 12 49030282 49030283 CT - 168912 single nucleotide variant NM_003482.3(KMT2D):c.13606C>T (p.Arg4536Ter) 587783692 MedGen:CN030661,OMIM:147920 12 49424741 49424741 G A 168912 single nucleotide variant NM_003482.3(KMT2D):c.13606C>T (p.Arg4536Ter) 587783692 MedGen:CN030661,OMIM:147920 12 49030958 49030958 G A 168913 deletion NM_003482.3(KMT2D):c.13518delC (p.Ser4507Alafs) 587783691 MedGen:CN030661,OMIM:147920 12 49424970 49424970 G - 168913 deletion NM_003482.3(KMT2D):c.13518delC (p.Ser4507Alafs) 587783691 MedGen:CN030661,OMIM:147920 12 49031187 49031187 G - 168914 single nucleotide variant NM_003482.3(KMT2D):c.13450C>T (p.Arg4484Ter) 587783690 MedGen:CN030661,OMIM:147920 12 49425038 49425038 G A 168914 single nucleotide variant NM_003482.3(KMT2D):c.13450C>T (p.Arg4484Ter) 587783690 MedGen:CN030661,OMIM:147920 12 49031255 49031255 G A 168915 single nucleotide variant NM_003482.3(KMT2D):c.13001C>T (p.Ala4334Val) 183702050 MedGen:CN030661,OMIM:147920 12 49425487 49425487 G A 168915 single nucleotide variant NM_003482.3(KMT2D):c.13001C>T (p.Ala4334Val) 183702050 MedGen:CN030661,OMIM:147920 12 49031704 49031704 G A 168916 single nucleotide variant NM_003482.3(KMT2D):c.12962C>A (p.Ser4321Ter) 587783688 MedGen:CN030661,OMIM:147920 12 49425526 49425526 G T 168916 single nucleotide variant NM_003482.3(KMT2D):c.12962C>A (p.Ser4321Ter) 587783688 MedGen:CN030661,OMIM:147920 12 49031743 49031743 G T 168917 deletion NM_003482.3(KMT2D):c.12956_12957delGA (p.Arg4319Thrfs) 587783687 MedGen:CN030661,OMIM:147920 12 49425531 49425532 TC - 168917 deletion NM_003482.3(KMT2D):c.12956_12957delGA (p.Arg4319Thrfs) 587783687 MedGen:CN030661,OMIM:147920 12 49031748 49031749 TC - 168918 deletion NM_003482.3(KMT2D):c.12896delG (p.Gly4299Aspfs) 587783686 MedGen:CN030661,OMIM:147920 12 49425592 49425592 C - 168918 deletion NM_003482.3(KMT2D):c.12896delG (p.Gly4299Aspfs) 587783686 MedGen:CN030661,OMIM:147920 12 49031809 49031809 C - 168919 single nucleotide variant NM_003482.3(KMT2D):c.12768C>T (p.Leu4256=) 71464946 MedGen:CN030661,OMIM:147920 12 49425720 49425720 G A 168919 single nucleotide variant NM_003482.3(KMT2D):c.12768C>T (p.Leu4256=) 71464946 MedGen:CN030661,OMIM:147920 12 49031937 49031937 G A 168920 single nucleotide variant NM_003482.3(KMT2D):c.12592C>T (p.Arg4198Ter) 587783685 MedGen:CN030661,OMIM:147920 12 49425896 49425896 G A 168920 single nucleotide variant NM_003482.3(KMT2D):c.12592C>T (p.Arg4198Ter) 587783685 MedGen:CN030661,OMIM:147920 12 49032113 49032113 G A 168921 single nucleotide variant NM_003482.3(KMT2D):c.12270G>A (p.Gln4090=) 370665309 MedGen:CN030661,OMIM:147920 12 49426218 49426218 C T 168921 single nucleotide variant NM_003482.3(KMT2D):c.12270G>A (p.Gln4090=) 370665309 MedGen:CN030661,OMIM:147920 12 49032435 49032435 C T 168922 single nucleotide variant NM_003482.3(KMT2D):c.11886A>G (p.Gln3962=) 180784366 MedGen:CN030661,OMIM:147920 12 49426602 49426602 T C 168922 single nucleotide variant NM_003482.3(KMT2D):c.11886A>G (p.Gln3962=) 180784366 MedGen:CN030661,OMIM:147920 12 49032819 49032819 T C 168923 deletion NM_003482.3(KMT2D):c.11756_11758delAGC (p.Gln3919del) 587783684 MedGen:CN169374 12 49426730 49426732 GCT - 168923 deletion NM_003482.3(KMT2D):c.11756_11758delAGC (p.Gln3919del) 587783684 MedGen:CN169374 12 49032947 49032949 GCT - 168924 single nucleotide variant NM_003482.3(KMT2D):c.11563G>C (p.Ala3855Pro) 77538244 MedGen:CN030661,OMIM:147920 12 49426925 49426925 C G 168924 single nucleotide variant NM_003482.3(KMT2D):c.11563G>C (p.Ala3855Pro) 77538244 MedGen:CN030661,OMIM:147920 12 49033142 49033142 C G 168925 deletion NM_003482.3(KMT2D):c.11386delC (p.Gln3796Argfs) 587783683 MedGen:CN030661,OMIM:147920 12 49427102 49427102 G - 168925 deletion NM_003482.3(KMT2D):c.11386delC (p.Gln3796Argfs) 587783683 MedGen:CN030661,OMIM:147920 12 49033319 49033319 G - 168926 single nucleotide variant NM_003482.3(KMT2D):c.11290C>T (p.Gln3764Ter) 587783682 MedGen:CN030661,OMIM:147920 12 49427198 49427198 G A 168926 single nucleotide variant NM_003482.3(KMT2D):c.11290C>T (p.Gln3764Ter) 587783682 MedGen:CN030661,OMIM:147920 12 49033415 49033415 G A 168927 single nucleotide variant NM_003482.3(KMT2D):c.11263C>T (p.Gln3755Ter) 587783681 MedGen:CN030661,OMIM:147920 12 49427225 49427225 G A 168927 single nucleotide variant NM_003482.3(KMT2D):c.11263C>T (p.Gln3755Ter) 587783681 MedGen:CN030661,OMIM:147920 12 49033442 49033442 G A 168928 single nucleotide variant NM_003482.3(KMT2D):c.11043G>A (p.Gln3681=) 371444130 MedGen:CN030661,OMIM:147920;MedGen:CN169374 12 49427445 49427445 C T 168928 single nucleotide variant NM_003482.3(KMT2D):c.11043G>A (p.Gln3681=) 371444130 MedGen:CN030661,OMIM:147920;MedGen:CN169374 12 49033662 49033662 C T 168929 single nucleotide variant NM_003482.3(KMT2D):c.10444C>T (p.Arg3482Trp) 201127814 MedGen:CN030661,OMIM:147920 12 49428256 49428256 G A 168929 single nucleotide variant NM_003482.3(KMT2D):c.10444C>T (p.Arg3482Trp) 201127814 MedGen:CN030661,OMIM:147920 12 49034473 49034473 G A 168930 single nucleotide variant NM_003482.3(KMT2D):c.10312G>A (p.Val3438Met) 35087111 MedGen:CN030661,OMIM:147920 12 49428638 49428638 C T 168930 single nucleotide variant NM_003482.3(KMT2D):c.10312G>A (p.Val3438Met) 35087111 MedGen:CN030661,OMIM:147920 12 49034855 49034855 C T 168931 single nucleotide variant NM_003482.3(KMT2D):c.9726C>T (p.Ala3242=) 183688784 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49431413 49431413 G A 168931 single nucleotide variant NM_003482.3(KMT2D):c.9726C>T (p.Ala3242=) 183688784 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49037630 49037630 G A 168932 single nucleotide variant NM_003482.3(KMT2D):c.9491G>A (p.Arg3164Gln) 587783730 MedGen:CN169374 12 49431648 49431648 C T 168932 single nucleotide variant NM_003482.3(KMT2D):c.9491G>A (p.Arg3164Gln) 587783730 MedGen:CN169374 12 49037865 49037865 C T 168933 single nucleotide variant NM_003482.3(KMT2D):c.8743C>T (p.Arg2915Ter) 587783729 MedGen:CN030661,OMIM:147920 12 49432396 49432396 G A 168933 single nucleotide variant NM_003482.3(KMT2D):c.8743C>T (p.Arg2915Ter) 587783729 MedGen:CN030661,OMIM:147920 12 49038613 49038613 G A 168934 single nucleotide variant NM_003482.3(KMT2D):c.8360A>C (p.Asn2787Thr) 78415116 MedGen:CN030661,OMIM:147920 12 49433011 49433011 T G 168934 single nucleotide variant NM_003482.3(KMT2D):c.8360A>C (p.Asn2787Thr) 78415116 MedGen:CN030661,OMIM:147920 12 49039228 49039228 T G 168935 deletion NM_003482.3(KMT2D):c.8171_8175delCCAGC (p.Pro2724Glnfs) 587783728 MedGen:CN030661,OMIM:147920 12 49433272 49433276 GCTGG - 168935 deletion NM_003482.3(KMT2D):c.8171_8175delCCAGC (p.Pro2724Glnfs) 587783728 MedGen:CN030661,OMIM:147920 12 49039489 49039493 GCTGG - 168936 single nucleotide variant NM_003482.3(KMT2D):c.8053C>T (p.Arg2685Ter) 587783727 MedGen:CN030661,OMIM:147920 12 49433394 49433394 G A 168936 single nucleotide variant NM_003482.3(KMT2D):c.8053C>T (p.Arg2685Ter) 587783727 MedGen:CN030661,OMIM:147920 12 49039611 49039611 G A 168937 single nucleotide variant NM_003482.3(KMT2D):c.7904G>A (p.Arg2635Gln) 200359477 MedGen:CN169374 12 49433649 49433649 C T 168937 single nucleotide variant NM_003482.3(KMT2D):c.7904G>A (p.Arg2635Gln) 200359477 MedGen:CN169374 12 49039866 49039866 C T 168938 single nucleotide variant NM_003482.3(KMT2D):c.7841C>T (p.Ser2614Leu) 376202668 MedGen:CN169374 12 49433712 49433712 G A 168938 single nucleotide variant NM_003482.3(KMT2D):c.7841C>T (p.Ser2614Leu) 376202668 MedGen:CN169374 12 49039929 49039929 G A 168939 single nucleotide variant NM_003482.3(KMT2D):c.7198C>G (p.Pro2400Ala) 35111108 MedGen:CN030661,OMIM:147920 12 49434355 49434355 G C 168939 single nucleotide variant NM_003482.3(KMT2D):c.7198C>G (p.Pro2400Ala) 35111108 MedGen:CN030661,OMIM:147920 12 49040572 49040572 G C 168940 single nucleotide variant NM_003482.3(KMT2D):c.7188T>C (p.Cys2396=) 111305262 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49434365 49434365 A G 168940 single nucleotide variant NM_003482.3(KMT2D):c.7188T>C (p.Cys2396=) 111305262 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49040582 49040582 A G 168941 single nucleotide variant NM_003482.3(KMT2D):c.7170G>A (p.Pro2390=) 3741625 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN030661,OMIM:147920 12 49434383 49434383 C T 168941 single nucleotide variant NM_003482.3(KMT2D):c.7170G>A (p.Pro2390=) 3741625 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN030661,OMIM:147920 12 49040600 49040600 C T 168942 single nucleotide variant NM_003482.3(KMT2D):c.6844C>T (p.Arg2282Trp) 587783726 MedGen:CN030661,OMIM:147920 12 49434709 49434709 G A 168942 single nucleotide variant NM_003482.3(KMT2D):c.6844C>T (p.Arg2282Trp) 587783726 MedGen:CN030661,OMIM:147920 12 49040926 49040926 G A 168943 single nucleotide variant NM_003482.3(KMT2D):c.6807C>T (p.Ser2269=) 73302197 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN030661,OMIM:147920;MedGen:CN169374 12 49434746 49434746 G A 168943 single nucleotide variant NM_003482.3(KMT2D):c.6807C>T (p.Ser2269=) 73302197 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN030661,OMIM:147920;MedGen:CN169374 12 49040963 49040963 G A 168944 single nucleotide variant NM_003482.3(KMT2D):c.6733C>G (p.Leu2245Val) 201931833 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN030661,OMIM:147920;MedGen:CN169374 12 49434820 49434820 G C 168944 single nucleotide variant NM_003482.3(KMT2D):c.6733C>G (p.Leu2245Val) 201931833 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN030661,OMIM:147920;MedGen:CN169374 12 49041037 49041037 G C 168945 deletion NM_003482.3(KMT2D):c.6670_6674delGGGGA (p.Gly2224Ilefs) 587783725 MedGen:CN030661,OMIM:147920 12 49434879 49434883 TCCCC - 168945 deletion NM_003482.3(KMT2D):c.6670_6674delGGGGA (p.Gly2224Ilefs) 587783725 MedGen:CN030661,OMIM:147920 12 49041096 49041100 TCCCC - 168946 single nucleotide variant NM_003482.3(KMT2D):c.6640G>A (p.Ala2214Thr) 587783724 MedGen:CN030661,OMIM:147920 12 49434913 49434913 C T 168946 single nucleotide variant NM_003482.3(KMT2D):c.6640G>A (p.Ala2214Thr) 587783724 MedGen:CN030661,OMIM:147920 12 49041130 49041130 C T 168947 single nucleotide variant NM_003482.3(KMT2D):c.6126C>A (p.Cys2042Ter) 556669370 MedGen:CN030661,OMIM:147920 12 49435757 49435757 G T 168947 single nucleotide variant NM_003482.3(KMT2D):c.6126C>A (p.Cys2042Ter) 556669370 MedGen:CN030661,OMIM:147920 12 49041974 49041974 G T 168948 deletion NM_003482.3(KMT2D):c.6086delC (p.Pro2029Leufs) 587783723 MedGen:CN030661,OMIM:147920 12 49435895 49435895 G - 168948 deletion NM_003482.3(KMT2D):c.6086delC (p.Pro2029Leufs) 587783723 MedGen:CN030661,OMIM:147920 12 49042112 49042112 G - 168949 single nucleotide variant NM_003482.3(KMT2D):c.6020A>C (p.Glu2007Ala) 587783722 MedGen:CN169374 12 49435961 49435961 T G 168949 single nucleotide variant NM_003482.3(KMT2D):c.6020A>C (p.Glu2007Ala) 587783722 MedGen:CN169374 12 49042178 49042178 T G 168950 single nucleotide variant NM_003482.3(KMT2D):c.5952C>A (p.Pro1984=) 587783721 MedGen:CN169374 12 49436029 49436029 G T 168950 single nucleotide variant NM_003482.3(KMT2D):c.5952C>A (p.Pro1984=) 587783721 MedGen:CN169374 12 49042246 49042246 G T 168951 single nucleotide variant NM_003482.3(KMT2D):c.5592C>A (p.Gly1864=) 587783720 MedGen:CN169374 12 49436911 49436911 G T 168951 single nucleotide variant NM_003482.3(KMT2D):c.5592C>A (p.Gly1864=) 587783720 MedGen:CN169374 12 49043128 49043128 G T 168952 deletion NM_003482.3(KMT2D):c.4739delC (p.Pro1580Glnfs) 587783719 MedGen:CN030661,OMIM:147920 12 49439705 49439705 G - 168952 deletion NM_003482.3(KMT2D):c.4739delC (p.Pro1580Glnfs) 587783719 MedGen:CN030661,OMIM:147920 12 49045922 49045922 G - 168953 single nucleotide variant NM_003482.3(KMT2D):c.4421G>A (p.Cys1474Tyr) 587783718 MedGen:CN030661,OMIM:147920;MedGen:CN169374 12 49440205 49440205 C T 168953 single nucleotide variant NM_003482.3(KMT2D):c.4421G>A (p.Cys1474Tyr) 587783718 MedGen:CN030661,OMIM:147920;MedGen:CN169374 12 49046422 49046422 C T 168954 single nucleotide variant NM_003482.3(KMT2D):c.4418+5G>A 587783717 MedGen:CN030661,OMIM:147920 12 49440387 49440387 C T 168954 single nucleotide variant NM_003482.3(KMT2D):c.4418+5G>A 587783717 MedGen:CN030661,OMIM:147920 12 49046604 49046604 C T 168955 single nucleotide variant NM_003482.3(KMT2D):c.4343G>A (p.Cys1448Tyr) 587783716 MedGen:CN030661,OMIM:147920 12 49440467 49440467 C T 168955 single nucleotide variant NM_003482.3(KMT2D):c.4343G>A (p.Cys1448Tyr) 587783716 MedGen:CN030661,OMIM:147920 12 49046684 49046684 C T 168956 deletion NM_003482.3(KMT2D):c.4221delC (p.Cys1408Valfs) 587783715 MedGen:CN030661,OMIM:147920 12 49441763 49441763 G - 168956 deletion NM_003482.3(KMT2D):c.4221delC (p.Cys1408Valfs) 587783715 MedGen:CN030661,OMIM:147920 12 49047980 49047980 G - 168957 single nucleotide variant NM_003482.3(KMT2D):c.4131G>C (p.Gln1377His) 764942 MedGen:CN030661,OMIM:147920 12 49442442 49442442 C G 168957 single nucleotide variant NM_003482.3(KMT2D):c.4131G>C (p.Gln1377His) 764942 MedGen:CN030661,OMIM:147920 12 49048659 49048659 C G 168958 single nucleotide variant NM_003482.3(KMT2D):c.4123C>T (p.Leu1375=) 1368572 MedGen:CN030661,OMIM:147920 12 49442450 49442450 G A 168958 single nucleotide variant NM_003482.3(KMT2D):c.4123C>T (p.Leu1375=) 1368572 MedGen:CN030661,OMIM:147920 12 49048667 49048667 G A 168959 single nucleotide variant NM_003482.3(KMT2D):c.4083G>C (p.Gln1361His) 764941 MedGen:CN030661,OMIM:147920 12 49442490 49442490 C G 168959 single nucleotide variant NM_003482.3(KMT2D):c.4083G>C (p.Gln1361His) 764941 MedGen:CN030661,OMIM:147920 12 49048707 49048707 C G 168960 single nucleotide variant NM_003482.3(KMT2D):c.3813A>G (p.Leu1271=) 201794205 MedGen:CN169374 12 49443558 49443558 T C 168960 single nucleotide variant NM_003482.3(KMT2D):c.3813A>G (p.Leu1271=) 201794205 MedGen:CN169374 12 49049775 49049775 T C 168961 single nucleotide variant NM_003482.3(KMT2D):c.3803A>C (p.Asp1268Ala) 74643880 MedGen:CN030661,OMIM:147920 12 49443568 49443568 T G 168961 single nucleotide variant NM_003482.3(KMT2D):c.3803A>C (p.Asp1268Ala) 74643880 MedGen:CN030661,OMIM:147920 12 49049785 49049785 T G 168962 deletion NM_003482.3(KMT2D):c.3695delC (p.Pro1232Argfs) 587783713 MedGen:CN030661,OMIM:147920 12 49443676 49443676 G - 168962 deletion NM_003482.3(KMT2D):c.3695delC (p.Pro1232Argfs) 587783713 MedGen:CN030661,OMIM:147920 12 49049893 49049893 G - 168963 single nucleotide variant NM_003482.3(KMT2D):c.3553C>T (p.Gln1185Ter) 587783712 MedGen:CN030661,OMIM:147920 12 49443818 49443818 G A 168963 single nucleotide variant NM_003482.3(KMT2D):c.3553C>T (p.Gln1185Ter) 587783712 MedGen:CN030661,OMIM:147920 12 49050035 49050035 G A 168964 single nucleotide variant NM_003482.3(KMT2D):c.3121C>T (p.Gln1041Ter) 587783711 MedGen:CN030661,OMIM:147920 12 49444250 49444250 G A 168964 single nucleotide variant NM_003482.3(KMT2D):c.3121C>T (p.Gln1041Ter) 587783711 MedGen:CN030661,OMIM:147920 12 49050467 49050467 G A 168965 single nucleotide variant NM_003482.3(KMT2D):c.2657C>T (p.Pro886Leu) 587783709 MedGen:CN030661,OMIM:147920 12 49444809 49444809 G A 168965 single nucleotide variant NM_003482.3(KMT2D):c.2657C>T (p.Pro886Leu) 587783709 MedGen:CN030661,OMIM:147920 12 49051026 49051026 G A 168966 single nucleotide variant NM_003482.3(KMT2D):c.2506C>A (p.Gln836Lys) 200192746 MedGen:CN169374 12 49444960 49444960 G T 168966 single nucleotide variant NM_003482.3(KMT2D):c.2506C>A (p.Gln836Lys) 200192746 MedGen:CN169374 12 49051177 49051177 G T 168967 deletion NM_003482.3(KMT2D):c.2256_2282del27 (p.Arg755_Pro763del) 587783707 MedGen:CN169374 12 49445184 49445210 na na 168967 deletion NM_003482.3(KMT2D):c.2256_2282del27 (p.Arg755_Pro763del) 587783707 MedGen:CN169374 12 49051401 49051427 na na 168968 single nucleotide variant NM_003482.3(KMT2D):c.2232A>C (p.Ser744=) 200155807 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49445234 49445234 T G 168968 single nucleotide variant NM_003482.3(KMT2D):c.2232A>C (p.Ser744=) 200155807 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49051451 49051451 T G 168969 single nucleotide variant NM_003482.3(KMT2D):c.2215G>A (p.Glu739Lys) 587783706 MedGen:CN169374 12 49445251 49445251 C T 168969 single nucleotide variant NM_003482.3(KMT2D):c.2215G>A (p.Glu739Lys) 587783706 MedGen:CN169374 12 49051468 49051468 C T 168970 single nucleotide variant NM_003482.3(KMT2D):c.2078C>A (p.Pro693His) 76663644 MedGen:CN030661,OMIM:147920 12 49445388 49445388 G T 168970 single nucleotide variant NM_003482.3(KMT2D):c.2078C>A (p.Pro693His) 76663644 MedGen:CN030661,OMIM:147920 12 49051605 49051605 G T 168971 single nucleotide variant NM_003482.3(KMT2D):c.2062C>T (p.Arg688Cys) 371076182 MedGen:CN169374 12 49445404 49445404 G A 168971 single nucleotide variant NM_003482.3(KMT2D):c.2062C>T (p.Arg688Cys) 371076182 MedGen:CN169374 12 49051621 49051621 G A 168972 single nucleotide variant NM_003482.3(KMT2D):c.2052T>A (p.Pro684=) 200116899 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49445414 49445414 A T 168972 single nucleotide variant NM_003482.3(KMT2D):c.2052T>A (p.Pro684=) 200116899 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49051631 49051631 A T 168973 single nucleotide variant NM_003482.3(KMT2D):c.1938C>G (p.Pro646=) 147212187 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49445528 49445528 G C 168973 single nucleotide variant NM_003482.3(KMT2D):c.1938C>G (p.Pro646=) 147212187 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49051745 49051745 G C 168974 single nucleotide variant NM_003482.3(KMT2D):c.1813G>T (p.Glu605Ter) 587783705 MedGen:CN030661,OMIM:147920 12 49445653 49445653 C A 168974 single nucleotide variant NM_003482.3(KMT2D):c.1813G>T (p.Glu605Ter) 587783705 MedGen:CN030661,OMIM:147920 12 49051870 49051870 C A 168975 deletion NM_003482.3(KMT2D):c.1329_1332delACCT (p.Pro444Argfs) 587783689 MedGen:CN030661,OMIM:147920 12 49446134 49446137 AGGT - 168975 deletion NM_003482.3(KMT2D):c.1329_1332delACCT (p.Pro444Argfs) 587783689 MedGen:CN030661,OMIM:147920 12 49052351 49052354 AGGT - 168976 single nucleotide variant NM_003482.3(KMT2D):c.968G>A (p.Cys323Tyr) 78617409 MedGen:CN030661,OMIM:147920 12 49446842 49446842 C T 168976 single nucleotide variant NM_003482.3(KMT2D):c.968G>A (p.Cys323Tyr) 78617409 MedGen:CN030661,OMIM:147920 12 49053059 49053059 C T 168977 single nucleotide variant NM_003482.3(KMT2D):c.400+1G>C 587783714 MedGen:CN030661,OMIM:147920 12 49448310 49448310 C G 168977 single nucleotide variant NM_003482.3(KMT2D):c.400+1G>C 587783714 MedGen:CN030661,OMIM:147920 12 49054527 49054527 C G 168978 single nucleotide variant NM_003482.3(KMT2D):c.288G>C (p.Val96=) 587783710 MedGen:CN169374 12 49448423 49448423 C G 168978 single nucleotide variant NM_003482.3(KMT2D):c.288G>C (p.Val96=) 587783710 MedGen:CN169374 12 49054640 49054640 C G 168979 single nucleotide variant NM_003482.3(KMT2D):c.256G>T (p.Glu86Ter) 587783708 MedGen:CN030661,OMIM:147920 12 49448455 49448455 C A 168979 single nucleotide variant NM_003482.3(KMT2D):c.256G>T (p.Glu86Ter) 587783708 MedGen:CN030661,OMIM:147920 12 49054672 49054672 C A 177009 single nucleotide variant NM_003482.3(KMT2D):c.7109G>A (p.Arg2370His) 373234419 MedGen:CN169374 12 49434444 49434444 C T 177009 single nucleotide variant NM_003482.3(KMT2D):c.7109G>A (p.Arg2370His) 373234419 MedGen:CN169374 12 49040661 49040661 C T 177139 single nucleotide variant NM_003482.3(KMT2D):c.15256C>T (p.Arg5086Ter) 727503979 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49420493 49420493 G A 177139 single nucleotide variant NM_003482.3(KMT2D):c.15256C>T (p.Arg5086Ter) 727503979 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49026710 49026710 G A 177140 single nucleotide variant NM_003482.3(KMT2D):c.3754C>T (p.Arg1252Ter) 727503987 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49049834 49049834 G A 177140 single nucleotide variant NM_003482.3(KMT2D):c.3754C>T (p.Arg1252Ter) 727503987 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49443617 49443617 G A 177271 single nucleotide variant NM_003482.3(KMT2D):c.16487T>G (p.Ile5496Ser) 727503978 MedGen:CN169374 12 49415860 49415860 A C 177271 single nucleotide variant NM_003482.3(KMT2D):c.16487T>G (p.Ile5496Ser) 727503978 MedGen:CN169374 12 49022077 49022077 A C 177272 single nucleotide variant NM_003482.3(KMT2D):c.4009G>T (p.Glu1337Ter) 727503986 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49442899 49442899 C A 177272 single nucleotide variant NM_003482.3(KMT2D):c.4009G>T (p.Glu1337Ter) 727503986 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49049116 49049116 C A 177403 single nucleotide variant NM_003482.3(KMT2D):c.8488C>T (p.Arg2830Ter) 727503983 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49432651 49432651 G A 177403 single nucleotide variant NM_003482.3(KMT2D):c.8488C>T (p.Arg2830Ter) 727503983 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49038868 49038868 G A 177404 single nucleotide variant NM_003482.3(KMT2D):c.1378C>A (p.Pro460Thr) 201089405 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49446088 49446088 G T 177404 single nucleotide variant NM_003482.3(KMT2D):c.1378C>A (p.Pro460Thr) 201089405 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49052305 49052305 G T 177795 single nucleotide variant NM_003482.3(KMT2D):c.13797G>A (p.Ala4599=) 727503980 MedGen:CN169374 12 49424426 49424426 C T 177795 single nucleotide variant NM_003482.3(KMT2D):c.13797G>A (p.Ala4599=) 727503980 MedGen:CN169374 12 49030643 49030643 C T 177796 single nucleotide variant NM_003482.3(KMT2D):c.13437G>T (p.Gly4479=) 727503981 MedGen:CN169374 12 49425051 49425051 C A 177796 single nucleotide variant NM_003482.3(KMT2D):c.13437G>T (p.Gly4479=) 727503981 MedGen:CN169374 12 49031268 49031268 C A 177797 single nucleotide variant NM_003482.3(KMT2D):c.12261C>G (p.Ser4087Arg) 727503982 MedGen:CN169374 12 49426227 49426227 G C 177797 single nucleotide variant NM_003482.3(KMT2D):c.12261C>G (p.Ser4087Arg) 727503982 MedGen:CN169374 12 49032444 49032444 G C 177798 single nucleotide variant NM_003482.3(KMT2D):c.7710C>T (p.Pro2570=) 727503984 MedGen:CN169374 12 49433843 49433843 G A 177798 single nucleotide variant NM_003482.3(KMT2D):c.7710C>T (p.Pro2570=) 727503984 MedGen:CN169374 12 49040060 49040060 G A 177799 single nucleotide variant NM_003482.3(KMT2D):c.6456C>T (p.Gly2152=) 727503985 MedGen:CN169374 12 49435097 49435097 G A 177799 single nucleotide variant NM_003482.3(KMT2D):c.6456C>T (p.Gly2152=) 727503985 MedGen:CN169374 12 49041314 49041314 G A 177800 single nucleotide variant NM_003482.3(KMT2D):c.3906+20C>T 375504464 MedGen:CN169374 12 49443445 49443445 G A 177800 single nucleotide variant NM_003482.3(KMT2D):c.3906+20C>T 375504464 MedGen:CN169374 12 49049662 49049662 G A 177801 single nucleotide variant NM_003482.3(KMT2D):c.2797+1G>A 727503988 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49444668 49444668 C T 177801 single nucleotide variant NM_003482.3(KMT2D):c.2797+1G>A 727503988 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49050885 49050885 C T 177802 deletion NM_003482.3(KMT2D):c.1814_1815delAG (p.Glu605Valfs) 727503989 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49445651 49445652 CT - 177802 deletion NM_003482.3(KMT2D):c.1814_1815delAG (p.Glu605Valfs) 727503989 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49051868 49051869 CT - 177803 single nucleotide variant NM_003482.3(KMT2D):c.1488G>A (p.Pro496=) 534236560 MedGen:CN169374 12 49445978 49445978 C T 177803 single nucleotide variant NM_003482.3(KMT2D):c.1488G>A (p.Pro496=) 534236560 MedGen:CN169374 12 49052195 49052195 C T 177805 deletion NM_003482.3(KMT2D):c.133delA (p.Ser45Valfs) 727503990 MedGen:CN030661,OMIM:147920 12 49448726 49448726 T - 177805 deletion NM_003482.3(KMT2D):c.133delA (p.Ser45Valfs) 727503990 MedGen:CN030661,OMIM:147920 12 49054943 49054943 T - 181473 single nucleotide variant NM_003482.3(KMT2D):c.16413-1G>C 793888515 MedGen:CN030661,OMIM:147920 12 49022152 49022152 C G 181473 single nucleotide variant NM_003482.3(KMT2D):c.16413-1G>C 793888515 MedGen:CN030661,OMIM:147920 12 49415935 49415935 C G 181474 deletion NM_003482.3(KMT2D):c.15235_15238delAATG (p.Asn5079Trpfs) 793888514 MedGen:CN030661,OMIM:147920 12 49420511 49420514 CATT - 181474 deletion NM_003482.3(KMT2D):c.15235_15238delAATG (p.Asn5079Trpfs) 793888514 MedGen:CN030661,OMIM:147920 12 49026728 49026731 CATT - 181475 single nucleotide variant NM_003482.3(KMT2D):c.14732C>T (p.Pro4911Leu) 183347186 MedGen:CN030661,OMIM:147920 12 49027234 49027234 G A 181475 single nucleotide variant NM_003482.3(KMT2D):c.14732C>T (p.Pro4911Leu) 183347186 MedGen:CN030661,OMIM:147920 12 49421017 49421017 G A 181476 single nucleotide variant NM_003482.3(KMT2D):c.14659G>T (p.Glu4887Ter) 793888513 MedGen:CN030661,OMIM:147920 12 49027307 49027307 C A 181476 single nucleotide variant NM_003482.3(KMT2D):c.14659G>T (p.Glu4887Ter) 793888513 MedGen:CN030661,OMIM:147920 12 49421090 49421090 C A 181477 single nucleotide variant NM_003482.3(KMT2D):c.12688C>T (p.Gln4230Ter) 793888511 MedGen:CN030661,OMIM:147920 12 49032017 49032017 G A 181477 single nucleotide variant NM_003482.3(KMT2D):c.12688C>T (p.Gln4230Ter) 793888511 MedGen:CN030661,OMIM:147920 12 49425800 49425800 G A 181478 deletion NM_003482.3(KMT2D):c.11796_11813del18 (p.Gln3934_Gln3939del) 793888516 MedGen:CN030661,OMIM:147920 12 49426675 49426692 na na 181478 deletion NM_003482.3(KMT2D):c.11796_11813del18 (p.Gln3934_Gln3939del) 793888516 MedGen:CN030661,OMIM:147920 12 49032892 49032909 na na 181479 single nucleotide variant NM_003482.3(KMT2D):c.9961C>T (p.Arg3321Ter) 793888512 MedGen:CN030661,OMIM:147920 12 49037395 49037395 G A 181479 single nucleotide variant NM_003482.3(KMT2D):c.9961C>T (p.Arg3321Ter) 793888512 MedGen:CN030661,OMIM:147920 12 49431178 49431178 G A 181480 duplication NM_003482.3(KMT2D):c.7481dupT (p.Ala2496Serfs) 35584294 MedGen:CN030661,OMIM:147920 12 49040289 49040289 A AA 181480 duplication NM_003482.3(KMT2D):c.7481dupT (p.Ala2496Serfs) 35584294 MedGen:CN030661,OMIM:147920 12 49434072 49434072 A AA 188843 single nucleotide variant NM_003482.3(KMT2D):c.11395C>T (p.Gln3799Ter) 786205478 MedGen:CN221809 12 49427093 49427093 G A 188843 single nucleotide variant NM_003482.3(KMT2D):c.11395C>T (p.Gln3799Ter) 786205478 MedGen:CN221809 12 49033310 49033310 G A 190818 indel NM_003482.3(KMT2D):c.2747_2748delCGinsAGCTGAGCCATCC (p.Pro916Glnfs) 797044630 MedGen:CN030661,OMIM:147920 12 49444718 49444719 CG GGATGGCTCAGCT 190818 indel NM_003482.3(KMT2D):c.2747_2748delCGinsAGCTGAGCCATCC (p.Pro916Glnfs) 797044630 MedGen:CN030661,OMIM:147920 12 49050935 49050936 CG GGATGGCTCAGCT 190820 single nucleotide variant NM_003482.3(KMT2D):c.2368C>T (p.Pro790Ser) 376911077 MedGen:CN169374 12 49445098 49445098 G A 190820 single nucleotide variant NM_003482.3(KMT2D):c.2368C>T (p.Pro790Ser) 376911077 MedGen:CN169374 12 49051315 49051315 G A 190821 deletion NM_003482.3(KMT2D):c.2283_2309del27 (p.Ala765_Gln773del) 375538882 MedGen:CN169374 12 49445157 49445183 AGGTGTGGCTCCTCAGCCTGCGGAGAT - 190821 deletion NM_003482.3(KMT2D):c.2283_2309del27 (p.Ala765_Gln773del) 375538882 MedGen:CN169374 12 49051374 49051400 na na 190822 single nucleotide variant NM_003482.3(KMT2D):c.2321C>A (p.Pro774His) 794726992 MedGen:CN221809 12 49445145 49445145 G T 190822 single nucleotide variant NM_003482.3(KMT2D):c.2321C>A (p.Pro774His) 794726992 MedGen:CN221809 12 49051362 49051362 G T 190823 single nucleotide variant NM_003482.3(KMT2D):c.2204G>T (p.Cys735Phe) 772901550 MedGen:CN169374 12 49445262 49445262 C A 190823 single nucleotide variant NM_003482.3(KMT2D):c.2204G>T (p.Cys735Phe) 772901550 MedGen:CN169374 12 49051479 49051479 C A 191027 duplication NM_003482.3(KMT2D):c.3582dupC (p.Thr1195Hisfs) 796065328 MedGen:CN030661,OMIM:147920 12 49443789 49443789 G GG 191027 duplication NM_003482.3(KMT2D):c.3582dupC (p.Thr1195Hisfs) 796065328 MedGen:CN030661,OMIM:147920 12 49050006 49050006 G GG 191028 deletion NM_003482.3(KMT2D):c.2798-7delC 112620957 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49444580 49444580 G - 191028 deletion NM_003482.3(KMT2D):c.2798-7delC 112620957 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49050797 49050797 G - 191029 single nucleotide variant NM_003482.3(KMT2D):c.3889C>T (p.Arg1297Cys) 746084513 MedGen:CN169374 12 49443482 49443482 G A 191029 single nucleotide variant NM_003482.3(KMT2D):c.3889C>T (p.Arg1297Cys) 746084513 MedGen:CN169374 12 49049699 49049699 G A 191544 duplication NM_003482.3(KMT2D):c.4168dupG (p.Ala1390Glyfs) 756471180 MedGen:CN030661,OMIM:147920 12 49441816 49441816 C CC 191544 duplication NM_003482.3(KMT2D):c.4168dupG (p.Ala1390Glyfs) 756471180 MedGen:CN030661,OMIM:147920 12 49048033 49048033 C CC 191663 single nucleotide variant NM_003482.3(KMT2D):c.4265G>A (p.Trp1422Ter) 794727143 MedGen:CN030661,OMIM:147920 12 49440545 49440545 C T 191663 single nucleotide variant NM_003482.3(KMT2D):c.4265G>A (p.Trp1422Ter) 794727143 MedGen:CN030661,OMIM:147920 12 49046762 49046762 C T 191664 single nucleotide variant NM_003482.3(KMT2D):c.4414A>G (p.Lys1472Glu) 794727144 MedGen:CN169374 12 49440396 49440396 T C 191664 single nucleotide variant NM_003482.3(KMT2D):c.4414A>G (p.Lys1472Glu) 794727144 MedGen:CN169374 12 49046613 49046613 T C 191792 single nucleotide variant NM_003482.3(KMT2D):c.4485C>G (p.Tyr1495Ter) 574622908 MedGen:CN030661,OMIM:147920 12 49440141 49440141 G C 191792 single nucleotide variant NM_003482.3(KMT2D):c.4485C>G (p.Tyr1495Ter) 574622908 MedGen:CN030661,OMIM:147920 12 49046358 49046358 G C 191901 single nucleotide variant NM_003482.3(KMT2D):c.4642G>A (p.Asp1548Asn) 774736686 MedGen:CN169374 12 49439899 49439899 C T 191901 single nucleotide variant NM_003482.3(KMT2D):c.4642G>A (p.Asp1548Asn) 774736686 MedGen:CN169374 12 49046116 49046116 C T 192111 single nucleotide variant NM_003482.3(KMT2D):c.4745C>G (p.Pro1582Arg) 370444484 MedGen:CN169374 12 49438745 49438745 G C 192111 single nucleotide variant NM_003482.3(KMT2D):c.4745C>G (p.Pro1582Arg) 370444484 MedGen:CN169374 12 49044962 49044962 G C 192754 single nucleotide variant NM_003482.3(KMT2D):c.5142T>G (p.Pro1714=) 794727341 MedGen:CN169374 12 49438029 49438029 A C 192754 single nucleotide variant NM_003482.3(KMT2D):c.5142T>G (p.Pro1714=) 794727341 MedGen:CN169374 12 49044246 49044246 A C 192755 single nucleotide variant NM_003482.3(KMT2D):c.5131A>T (p.Lys1711Ter) 794727342 MedGen:CN030661,OMIM:147920 12 49438040 49438040 T A 192755 single nucleotide variant NM_003482.3(KMT2D):c.5131A>T (p.Lys1711Ter) 794727342 MedGen:CN030661,OMIM:147920 12 49044257 49044257 T A 192908 deletion NM_003482.3(KMT2D):c.5423delG (p.Gly1808Glufs) 794727379 MedGen:CN030661,OMIM:147920 12 49437462 49437462 C - 192908 deletion NM_003482.3(KMT2D):c.5423delG (p.Gly1808Glufs) 794727379 MedGen:CN030661,OMIM:147920 12 49043679 49043679 C - 193121 single nucleotide variant NM_003482.3(KMT2D):c.5677C>T (p.Gln1893Ter) 794727420 MedGen:CN030661,OMIM:147920 12 49436629 49436629 G A 193121 single nucleotide variant NM_003482.3(KMT2D):c.5677C>T (p.Gln1893Ter) 794727420 MedGen:CN030661,OMIM:147920 12 49042846 49042846 G A 193335 single nucleotide variant NM_003482.3(KMT2D):c.6180C>T (p.Tyr2060=) 186577948 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49435703 49435703 G A 193335 single nucleotide variant NM_003482.3(KMT2D):c.6180C>T (p.Tyr2060=) 186577948 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49041920 49041920 G A 193525 deletion NM_003482.3(KMT2D):c.177-12_177-2delGTGTGTCCACA 794727497 MedGen:CN030661,OMIM:147920 12 49448536 49448546 TGTGGACACAC - 193525 deletion NM_003482.3(KMT2D):c.177-12_177-2delGTGTGTCCACA 794727497 MedGen:CN030661,OMIM:147920 12 49054753 49054763 TGTGGACACAC - 193784 single nucleotide variant NM_003482.3(KMT2D):c.6204G>A (p.Arg2068=) 532098737 MedGen:CN169374 12 49435468 49435468 C T 193784 single nucleotide variant NM_003482.3(KMT2D):c.6204G>A (p.Arg2068=) 532098737 MedGen:CN169374 12 49041685 49041685 C T 193844 single nucleotide variant NM_003482.3(KMT2D):c.6235-6C>G 373858319 MedGen:CN169374 12 49435324 49435324 G C 193844 single nucleotide variant NM_003482.3(KMT2D):c.6235-6C>G 373858319 MedGen:CN169374 12 49041541 49041541 G C 193845 single nucleotide variant NM_003482.3(KMT2D):c.6649C>T (p.Arg2217Cys) 770789888 MedGen:CN169374 12 49434904 49434904 G A 193845 single nucleotide variant NM_003482.3(KMT2D):c.6649C>T (p.Arg2217Cys) 770789888 MedGen:CN169374 12 49041121 49041121 G A 193846 single nucleotide variant NM_003482.3(KMT2D):c.7201C>T (p.Arg2401Cys) 748969699 MedGen:CN169374 12 49434352 49434352 G A 193846 single nucleotide variant NM_003482.3(KMT2D):c.7201C>T (p.Arg2401Cys) 748969699 MedGen:CN169374 12 49040569 49040569 G A 193847 single nucleotide variant NM_003482.3(KMT2D):c.6739C>T (p.Pro2247Ser) 794727547 MedGen:CN169374 12 49434814 49434814 G A 193847 single nucleotide variant NM_003482.3(KMT2D):c.6739C>T (p.Pro2247Ser) 794727547 MedGen:CN169374 12 49041031 49041031 G A 193848 single nucleotide variant NM_003482.3(KMT2D):c.6345C>T (p.Ser2115=) 368856357 MedGen:CN169374 12 49435208 49435208 G A 193848 single nucleotide variant NM_003482.3(KMT2D):c.6345C>T (p.Ser2115=) 368856357 MedGen:CN169374 12 49041425 49041425 G A 193849 single nucleotide variant NM_003482.3(KMT2D):c.7251C>T (p.Ser2417=) 759825289 MedGen:CN169374 12 49434302 49434302 G A 193849 single nucleotide variant NM_003482.3(KMT2D):c.7251C>T (p.Ser2417=) 759825289 MedGen:CN169374 12 49040519 49040519 G A 193850 single nucleotide variant NM_003482.3(KMT2D):c.7301C>A (p.Ala2434Asp) 201114196 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49434252 49434252 G T 193850 single nucleotide variant NM_003482.3(KMT2D):c.7301C>A (p.Ala2434Asp) 201114196 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49040469 49040469 G T 193851 single nucleotide variant NM_003482.3(KMT2D):c.7046C>T (p.Pro2349Leu) 201581582 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49434507 49434507 G A 193851 single nucleotide variant NM_003482.3(KMT2D):c.7046C>T (p.Pro2349Leu) 201581582 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49040724 49040724 G A 193852 deletion NM_003482.3(KMT2D):c.7375_7376delTC (p.Ser2459Profs) 794727548 MedGen:CN030661,OMIM:147920 12 49434177 49434178 GA - 193852 deletion NM_003482.3(KMT2D):c.7375_7376delTC (p.Ser2459Profs) 794727548 MedGen:CN030661,OMIM:147920 12 49040394 49040395 GA - 193853 single nucleotide variant NM_003482.3(KMT2D):c.7903C>T (p.Arg2635Ter) 794727549 MedGen:CN030661,OMIM:147920 12 49433650 49433650 G A 193853 single nucleotide variant NM_003482.3(KMT2D):c.7903C>T (p.Arg2635Ter) 794727549 MedGen:CN030661,OMIM:147920 12 49039867 49039867 G A 193854 single nucleotide variant NM_003482.3(KMT2D):c.6349C>T (p.Pro2117Ser) 758476128 MedGen:CN169374 12 49435204 49435204 G A 193854 single nucleotide variant NM_003482.3(KMT2D):c.6349C>T (p.Pro2117Ser) 758476128 MedGen:CN169374 12 49041421 49041421 G A 193943 duplication NM_003482.3(KMT2D):c.8047-7dupT 200754433 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49433407 49433407 A AA 193943 duplication NM_003482.3(KMT2D):c.8047-7dupT 200754433 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49039624 49039624 A AA 194053 single nucleotide variant NM_003482.3(KMT2D):c.9212G>A (p.Arg3071Lys) 794727574 MedGen:CN169374 12 49431927 49431927 C T 194053 single nucleotide variant NM_003482.3(KMT2D):c.9212G>A (p.Arg3071Lys) 794727574 MedGen:CN169374 12 49038144 49038144 C T 194054 single nucleotide variant NM_003482.3(KMT2D):c.8924G>A (p.Arg2975His) 770885860 MedGen:CN169374 12 49432215 49432215 C T 194054 single nucleotide variant NM_003482.3(KMT2D):c.8924G>A (p.Arg2975His) 770885860 MedGen:CN169374 12 49038432 49038432 C T 194055 single nucleotide variant NM_003482.3(KMT2D):c.9502A>G (p.Met3168Val) 749463020 MedGen:CN169374 12 49431637 49431637 T C 194055 single nucleotide variant NM_003482.3(KMT2D):c.9502A>G (p.Met3168Val) 749463020 MedGen:CN169374 12 49037854 49037854 T C 194116 single nucleotide variant NM_003482.3(KMT2D):c.10233C>T (p.Asp3411=) 148688181 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49428717 49428717 G A 194116 single nucleotide variant NM_003482.3(KMT2D):c.10233C>T (p.Asp3411=) 148688181 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49034934 49034934 G A 194231 single nucleotide variant NM_003482.3(KMT2D):c.11957C>G (p.Ser3986Cys) 768668663 MedGen:CN169374 12 49426531 49426531 G C 194231 single nucleotide variant NM_003482.3(KMT2D):c.11957C>G (p.Ser3986Cys) 768668663 MedGen:CN169374 12 49032748 49032748 G C 194233 single nucleotide variant NM_003482.3(KMT2D):c.10889A>G (p.Lys3630Arg) 794727608 MedGen:CN169374 12 49427599 49427599 T C 194233 single nucleotide variant NM_003482.3(KMT2D):c.10889A>G (p.Lys3630Arg) 794727608 MedGen:CN169374 12 49033816 49033816 T C 194234 single nucleotide variant NM_003482.3(KMT2D):c.10850T>G (p.Leu3617Arg) 794727609 MedGen:CN169374 12 49427638 49427638 A C 194234 single nucleotide variant NM_003482.3(KMT2D):c.10850T>G (p.Leu3617Arg) 794727609 MedGen:CN169374 12 49033855 49033855 A C 194235 deletion NM_003482.3(KMT2D):c.11939delA (p.Gln3980Argfs) 794727610 MedGen:CN030661,OMIM:147920 12 49426549 49426549 T - 194235 deletion NM_003482.3(KMT2D):c.11939delA (p.Gln3980Argfs) 794727610 MedGen:CN030661,OMIM:147920 12 49032766 49032766 T - 194236 deletion NM_003482.3(KMT2D):c.12481delG (p.Glu4161Serfs) 794727611 MedGen:CN030661,OMIM:147920 12 49426007 49426007 C - 194236 deletion NM_003482.3(KMT2D):c.12481delG (p.Glu4161Serfs) 794727611 MedGen:CN030661,OMIM:147920 12 49032224 49032224 C - 194572 single nucleotide variant NM_003482.3(KMT2D):c.13588G>A (p.Asp4530Asn) 768143170 MedGen:CN169374 12 49424759 49424759 C T 194572 single nucleotide variant NM_003482.3(KMT2D):c.13588G>A (p.Asp4530Asn) 768143170 MedGen:CN169374 12 49030976 49030976 C T 194593 duplication NM_003482.3(KMT2D):c.13780dupG (p.Ala4594Glyfs) 797044740 MedGen:CN030661,OMIM:147920 12 49424443 49424443 C CC 194593 duplication NM_003482.3(KMT2D):c.13780dupG (p.Ala4594Glyfs) 797044740 MedGen:CN030661,OMIM:147920 12 49030660 49030660 C CC 194746 single nucleotide variant NM_003482.3(KMT2D):c.15200C>T (p.Thr5067Met) 767962124 MedGen:CN169374 12 49420549 49420549 G A 194746 single nucleotide variant NM_003482.3(KMT2D):c.15200C>T (p.Thr5067Met) 767962124 MedGen:CN169374 12 49026766 49026766 G A 194747 single nucleotide variant NM_003482.3(KMT2D):c.15535C>T (p.Arg5179Cys) 794727688 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49420214 49420214 G A 194747 single nucleotide variant NM_003482.3(KMT2D):c.15535C>T (p.Arg5179Cys) 794727688 MedGen:CN030661,OMIM:147920;MedGen:CN221809 12 49026431 49026431 G A 194748 duplication NM_003482.3(KMT2D):c.14885dupA (p.Pro4963Alafs) 797044744 MedGen:CN030661,OMIM:147920 12 49420864 49420864 T TT 194748 duplication NM_003482.3(KMT2D):c.14885dupA (p.Pro4963Alafs) 797044744 MedGen:CN030661,OMIM:147920 12 49027081 49027081 T TT 194749 deletion NM_003482.3(KMT2D):c.15172delG (p.Val5058Cysfs) 794727689 MedGen:CN030661,OMIM:147920 12 49420577 49420577 C - 194749 deletion NM_003482.3(KMT2D):c.15172delG (p.Val5058Cysfs) 794727689 MedGen:CN030661,OMIM:147920 12 49026794 49026794 C - 194750 single nucleotide variant NM_003482.3(KMT2D):c.15230T>C (p.Leu5077Pro) 398123726 MedGen:CN169374 12 49420519 49420519 A G 194750 single nucleotide variant NM_003482.3(KMT2D):c.15230T>C (p.Leu5077Pro) 398123726 MedGen:CN169374 12 49026736 49026736 A G 194751 single nucleotide variant NM_003482.3(KMT2D):c.15559G>C (p.Ala5187Pro) 775954885 MedGen:CN030661,OMIM:147920 12 49420190 49420190 C G 194751 single nucleotide variant NM_003482.3(KMT2D):c.15559G>C (p.Ala5187Pro) 775954885 MedGen:CN030661,OMIM:147920 12 49026407 49026407 C G 195096 single nucleotide variant NM_003482.3(KMT2D):c.16412+1G>T 794727752 MedGen:CN030661,OMIM:147920 12 49416062 49416062 C A 195096 single nucleotide variant NM_003482.3(KMT2D):c.16412+1G>T 794727752 MedGen:CN030661,OMIM:147920 12 49022279 49022279 C A 195126 single nucleotide variant NM_003482.3(KMT2D):c.16599G>A (p.Arg5533=) 199798179 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49415578 49415578 C T 195126 single nucleotide variant NM_003482.3(KMT2D):c.16599G>A (p.Arg5533=) 199798179 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49021795 49021795 C T 195654 single nucleotide variant NM_003482.3(KMT2D):c.878C>T (p.Thr293Met) 794727860 MedGen:CN169374 12 49447066 49447066 G A 195654 single nucleotide variant NM_003482.3(KMT2D):c.878C>T (p.Thr293Met) 794727860 MedGen:CN169374 12 49053283 49053283 G A 196246 single nucleotide variant NM_003482.3(KMT2D):c.1149C>T (p.Asp383=) 201709328 MedGen:CN169374 12 49446456 49446456 G A 196246 single nucleotide variant NM_003482.3(KMT2D):c.1149C>T (p.Asp383=) 201709328 MedGen:CN169374 12 49052673 49052673 G A 205016 single nucleotide variant NM_003482.3(KMT2D):c.4237-2A>C 797045001 MedGen:CN030661,OMIM:147920 12 49046792 49046792 T G 205016 single nucleotide variant NM_003482.3(KMT2D):c.4237-2A>C 797045001 MedGen:CN030661,OMIM:147920 12 49440575 49440575 T G 207951 single nucleotide variant NM_003482.3(KMT2D):c.15079C>T (p.Arg5027Ter) 797045659 MedGen:CN030661,OMIM:147920 12 49420670 49420670 G A 207951 single nucleotide variant NM_003482.3(KMT2D):c.15079C>T (p.Arg5027Ter) 797045659 MedGen:CN030661,OMIM:147920 12 49026887 49026887 G A 207952 single nucleotide variant NM_003482.3(KMT2D):c.11845C>T (p.Gln3949Ter) 797045658 MedGen:CN030661,OMIM:147920 12 49032860 49032860 G A 207952 single nucleotide variant NM_003482.3(KMT2D):c.11845C>T (p.Gln3949Ter) 797045658 MedGen:CN030661,OMIM:147920 12 49426643 49426643 G A 207953 single nucleotide variant NM_003482.3(KMT2D):c.11641A>G (p.Met3881Val) 797045657 MedGen:CN169374 12 49426847 49426847 T C 207953 single nucleotide variant NM_003482.3(KMT2D):c.11641A>G (p.Met3881Val) 797045657 MedGen:CN169374 12 49033064 49033064 T C 207954 single nucleotide variant NM_003482.3(KMT2D):c.9765T>C (p.His3255=) 146213252 MedGen:CN169374 12 49037591 49037591 A G 207954 single nucleotide variant NM_003482.3(KMT2D):c.9765T>C (p.His3255=) 146213252 MedGen:CN169374 12 49431374 49431374 A G 207955 deletion NM_003482.3(KMT2D):c.9540delT (p.Glu3181Argfs) 797045672 MedGen:CN030661,OMIM:147920 12 49037816 49037816 A - 207955 deletion NM_003482.3(KMT2D):c.9540delT (p.Glu3181Argfs) 797045672 MedGen:CN030661,OMIM:147920 12 49431599 49431599 A - 207956 duplication NM_003482.3(KMT2D):c.8445_8475dup31 (p.Ala2826Thrfs) 797045671 MedGen:CN030661,OMIM:147920 12 49432664 49432694 na na 207956 duplication NM_003482.3(KMT2D):c.8445_8475dup31 (p.Ala2826Thrfs) 797045671 MedGen:CN030661,OMIM:147920 12 49038881 49038911 na na 207957 deletion NM_003482.3(KMT2D):c.6172delG (p.Ala2058Profs) 797045669 MedGen:CN030661,OMIM:147920 12 49041928 49041928 C - 207957 deletion NM_003482.3(KMT2D):c.6172delG (p.Ala2058Profs) 797045669 MedGen:CN030661,OMIM:147920 12 49435711 49435711 C - 207958 duplication NM_003482.3(KMT2D):c.6171dupA (p.Ala2058Serfs) 797045668 MedGen:CN030661,OMIM:147920 12 49435712 49435712 T TT 207958 duplication NM_003482.3(KMT2D):c.6171dupA (p.Ala2058Serfs) 797045668 MedGen:CN030661,OMIM:147920 12 49041929 49041929 T TT 207959 duplication NM_003482.3(KMT2D):c.4981dupG (p.Glu1661Glyfs) 797045667 MedGen:CN030661,OMIM:147920 12 49438288 49438288 C CC 207959 duplication NM_003482.3(KMT2D):c.4981dupG (p.Glu1661Glyfs) 797045667 MedGen:CN030661,OMIM:147920 12 49044505 49044505 C CC 207960 single nucleotide variant NM_003482.3(KMT2D):c.4366T>A (p.Cys1456Ser) 797045666 MedGen:CN169374 12 49046661 49046661 A T 207960 single nucleotide variant NM_003482.3(KMT2D):c.4366T>A (p.Cys1456Ser) 797045666 MedGen:CN169374 12 49440444 49440444 A T 207961 single nucleotide variant NM_003482.3(KMT2D):c.4182C>T (p.Leu1394=) 797045665 MedGen:CN169374 12 49048019 49048019 G A 207961 single nucleotide variant NM_003482.3(KMT2D):c.4182C>T (p.Leu1394=) 797045665 MedGen:CN169374 12 49441802 49441802 G A 207962 deletion NM_003482.3(KMT2D):c.3591delC (p.Thr1198Leufs) 797045663 MedGen:CN030661,OMIM:147920 12 49443780 49443780 G - 207962 deletion NM_003482.3(KMT2D):c.3591delC (p.Thr1198Leufs) 797045663 MedGen:CN030661,OMIM:147920 12 49049997 49049997 G - 207963 duplication NM_003482.3(KMT2D):c.3585dupA (p.Pro1196Thrfs) 797045662 MedGen:CN030661,OMIM:147920 12 49443786 49443786 T TT 207963 duplication NM_003482.3(KMT2D):c.3585dupA (p.Pro1196Thrfs) 797045662 MedGen:CN030661,OMIM:147920 12 49050003 49050003 T TT 207964 single nucleotide variant NM_003482.3(KMT2D):c.3027G>A (p.Val1009=) 138227815 MedGen:CN169374 12 49444344 49444344 C T 207964 single nucleotide variant NM_003482.3(KMT2D):c.3027G>A (p.Val1009=) 138227815 MedGen:CN169374 12 49050561 49050561 C T 207965 insertion NM_003482.3(KMT2D):c.2954_2955insT (p.Pro986Thrfs) 797045660 MedGen:CN030661,OMIM:147920 12 49050633 49050634 - A 207965 insertion NM_003482.3(KMT2D):c.2954_2955insT (p.Pro986Thrfs) 797045660 MedGen:CN030661,OMIM:147920 12 49444416 49444417 - A 207966 single nucleotide variant NM_003482.3(KMT2D):c.2533C>T (p.Arg845Trp) 746841307 MedGen:CN169374 12 49051150 49051150 G A 207966 single nucleotide variant NM_003482.3(KMT2D):c.2533C>T (p.Arg845Trp) 746841307 MedGen:CN169374 12 49444933 49444933 G A 207967 single nucleotide variant NM_003482.3(KMT2D):c.1490C>T (p.Pro497Leu) 371421459 MedGen:CN169374 12 49445976 49445976 G A 207967 single nucleotide variant NM_003482.3(KMT2D):c.1490C>T (p.Pro497Leu) 371421459 MedGen:CN169374 12 49052193 49052193 G A 207968 duplication NM_003482.3(KMT2D):c.836dupG (p.Cys279Trpfs) 797045670 MedGen:CN030661,OMIM:147920 12 49447262 49447262 C CC 207968 duplication NM_003482.3(KMT2D):c.836dupG (p.Cys279Trpfs) 797045670 MedGen:CN030661,OMIM:147920 12 49053479 49053479 C CC 207969 insertion NM_003482.3(KMT2D):c.400+7_400+8insC 797045664 MedGen:CN169374 12 49448303 49448304 - G 207969 insertion NM_003482.3(KMT2D):c.400+7_400+8insC 797045664 MedGen:CN169374 12 49054520 49054521 - G 207970 deletion NM_003482.3(KMT2D):c.303delG (p.Ser102Alafs) 797045661 MedGen:CN030661,OMIM:147920 12 49448408 49448408 C - 207970 deletion NM_003482.3(KMT2D):c.303delG (p.Ser102Alafs) 797045661 MedGen:CN030661,OMIM:147920 12 49054625 49054625 C - 213621 single nucleotide variant NM_003482.3(KMT2D):c.11275C>T (p.Gln3759Ter) 863224890 MedGen:CN030661,OMIM:147920 12 49033430 49033430 G A 213621 single nucleotide variant NM_003482.3(KMT2D):c.11275C>T (p.Gln3759Ter) 863224890 MedGen:CN030661,OMIM:147920 12 49427213 49427213 G A 237240 single nucleotide variant NM_003482.3(KMT2D):c.13058C>T (p.Pro4353Leu) 778418522 MedGen:CN221809 12 49425430 49425430 G A 237240 single nucleotide variant NM_003482.3(KMT2D):c.13058C>T (p.Pro4353Leu) 778418522 MedGen:CN221809 12 49031647 49031647 G A 237418 single nucleotide variant NM_003482.3(KMT2D):c.1258+3G>A 368687683 MedGen:CN221809 12 49446344 49446344 C T 237418 single nucleotide variant NM_003482.3(KMT2D):c.1258+3G>A 368687683 MedGen:CN221809 12 49052561 49052561 C T 254590 single nucleotide variant NM_003482.3(KMT2D):c.15540G>C (p.Val5180=) 149393179 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49026426 49026426 C G 254590 single nucleotide variant NM_003482.3(KMT2D):c.15540G>C (p.Val5180=) 149393179 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49420209 49420209 C G 254591 single nucleotide variant NM_003482.3(KMT2D):c.10508-11T>G 374068805 MedGen:CN169374 12 49034310 49034310 A C 254591 single nucleotide variant NM_003482.3(KMT2D):c.10508-11T>G 374068805 MedGen:CN169374 12 49428093 49428093 A C 254592 single nucleotide variant NM_003482.3(KMT2D):c.9034C>T (p.Leu3012=) 752355105 MedGen:CN169374 12 49432105 49432105 G A 254592 single nucleotide variant NM_003482.3(KMT2D):c.9034C>T (p.Leu3012=) 752355105 MedGen:CN169374 12 49038322 49038322 G A 254593 single nucleotide variant NM_003482.3(KMT2D):c.8547C>T (p.Ala2849=) 368381758 MedGen:CN169374 12 49038809 49038809 G A 254593 single nucleotide variant NM_003482.3(KMT2D):c.8547C>T (p.Ala2849=) 368381758 MedGen:CN169374 12 49432592 49432592 G A 254594 single nucleotide variant NM_003482.3(KMT2D):c.8211C>T (p.Thr2737=) 370558457 MedGen:CN169374 12 49039453 49039453 G A 254594 single nucleotide variant NM_003482.3(KMT2D):c.8211C>T (p.Thr2737=) 370558457 MedGen:CN169374 12 49433236 49433236 G A 254595 single nucleotide variant NM_003482.3(KMT2D):c.5220C>T (p.Ala1740=) 200369026 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49043967 49043967 G A 254595 single nucleotide variant NM_003482.3(KMT2D):c.5220C>T (p.Ala1740=) 200369026 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49437750 49437750 G A 254596 single nucleotide variant NM_003482.3(KMT2D):c.4518C>A (p.Thr1506=) 150988159 MedGen:CN169374 12 49440108 49440108 G T 254596 single nucleotide variant NM_003482.3(KMT2D):c.4518C>A (p.Thr1506=) 150988159 MedGen:CN169374 12 49046325 49046325 G T 254597 single nucleotide variant NM_003482.3(KMT2D):c.4089C>T (p.Thr1363=) 369601017 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49048701 49048701 G A 254597 single nucleotide variant NM_003482.3(KMT2D):c.4089C>T (p.Thr1363=) 369601017 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49442484 49442484 G A 254598 single nucleotide variant NM_003482.3(KMT2D):c.3819C>T (p.Cys1273=) 373373098 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49443552 49443552 G A 254598 single nucleotide variant NM_003482.3(KMT2D):c.3819C>T (p.Cys1273=) 373373098 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49049769 49049769 G A 254599 single nucleotide variant NM_003482.3(KMT2D):c.2785C>T (p.Leu929=) 745396055 MedGen:CN169374 12 49444681 49444681 G A 254599 single nucleotide variant NM_003482.3(KMT2D):c.2785C>T (p.Leu929=) 745396055 MedGen:CN169374 12 49050898 49050898 G A 254600 single nucleotide variant NM_003482.3(KMT2D):c.1725A>T (p.Pro575=) 371243627 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49445741 49445741 T A 254600 single nucleotide variant NM_003482.3(KMT2D):c.1725A>T (p.Pro575=) 371243627 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49051958 49051958 T A 260020 deletion NM_003482.3(KMT2D):c.1634delT (p.Leu545Argfs) 886039399 MedGen:CN221809 12 49445832 49445832 A - 260020 deletion NM_003482.3(KMT2D):c.1634delT (p.Leu545Argfs) 886039399 MedGen:CN221809 12 49052049 49052049 A - 260946 single nucleotide variant NM_003482.3(KMT2D):c.6765G>A (p.Leu2255=) 886037915 MedGen:CN030661,OMIM:147920 12 49041005 49041005 C T 260946 single nucleotide variant NM_003482.3(KMT2D):c.6765G>A (p.Leu2255=) 886037915 MedGen:CN030661,OMIM:147920 12 49434788 49434788 C T 262270 deletion NM_003482.3(KMT2D):c.13884delC (p.Thr4629Profs) 886040960 MedGen:CN030661,OMIM:147920 12 49424178 49424178 G - 262270 deletion NM_003482.3(KMT2D):c.13884delC (p.Thr4629Profs) 886040960 MedGen:CN030661,OMIM:147920 12 49030395 49030395 G - 263871 single nucleotide variant NM_003482.3(KMT2D):c.11770C>T (p.Gln3924Ter) 886041106 MedGen:CN030661,OMIM:147920 12 49426718 49426718 G A 263871 single nucleotide variant NM_003482.3(KMT2D):c.11770C>T (p.Gln3924Ter) 886041106 MedGen:CN030661,OMIM:147920 12 49032935 49032935 G A 264483 deletion NM_003482.3(KMT2D):c.16469_16472delAAGA (p.Lys5490Argfs) 886041499 MedGen:CN221809 12 49415875 49415878 TCTT - 264483 deletion NM_003482.3(KMT2D):c.16469_16472delAAGA (p.Lys5490Argfs) 886041499 MedGen:CN221809 12 49022092 49022095 TCTT - 264485 deletion NM_003482.3(KMT2D):c.5139delG (p.Pro1714Leufs) 886041627 MedGen:CN221809 12 49438032 49438032 C - 264485 deletion NM_003482.3(KMT2D):c.5139delG (p.Pro1714Leufs) 886041627 MedGen:CN221809 12 49044249 49044249 C - 264529 indel NM_003482.3(KMT2D):c.15708_15717delCGGGCGGCCGinsTA (p.Gly5237Argfs) 886041660 MedGen:CN221809 12 49420032 49420041 CGGCCGCCCG TA 264529 indel NM_003482.3(KMT2D):c.15708_15717delCGGGCGGCCGinsTA (p.Gly5237Argfs) 886041660 MedGen:CN221809 12 49026249 49026258 CGGCCGCCCG TA 264630 deletion NM_003482.3(KMT2D):c.9367delG (p.Glu3123Argfs) 886041416 MedGen:CN221809 12 49431772 49431772 C - 264630 deletion NM_003482.3(KMT2D):c.9367delG (p.Glu3123Argfs) 886041416 MedGen:CN221809 12 49037989 49037989 C - 264632 deletion NM_003482.3(KMT2D):c.1300delC (p.Leu434Terfs) 886041407 MedGen:CN221809 12 49446166 49446166 G - 264632 deletion NM_003482.3(KMT2D):c.1300delC (p.Leu434Terfs) 886041407 MedGen:CN221809 12 49052383 49052383 G - 264642 single nucleotide variant NM_003482.3(KMT2D):c.401-3A>G 886041408 MedGen:CN221809 12 49448202 49448202 T C 264642 single nucleotide variant NM_003482.3(KMT2D):c.401-3A>G 886041408 MedGen:CN221809 12 49054419 49054419 T C 264679 single nucleotide variant NM_003482.3(KMT2D):c.16501C>T (p.Arg5501Ter) 886041398 MedGen:CN221809 12 49415846 49415846 G A 264679 single nucleotide variant NM_003482.3(KMT2D):c.16501C>T (p.Arg5501Ter) 886041398 MedGen:CN221809 12 49022063 49022063 G A 264681 single nucleotide variant NM_003482.3(KMT2D):c.16184G>A (p.Trp5395Ter) 886041558 MedGen:CN221809 12 49416527 49416527 C T 264681 single nucleotide variant NM_003482.3(KMT2D):c.16184G>A (p.Trp5395Ter) 886041558 MedGen:CN221809 12 49022744 49022744 C T 264683 single nucleotide variant NM_003482.3(KMT2D):c.15143G>A (p.Arg5048His) 886041404 MedGen:CN221809 12 49420606 49420606 C T 264683 single nucleotide variant NM_003482.3(KMT2D):c.15143G>A (p.Arg5048His) 886041404 MedGen:CN221809 12 49026823 49026823 C T 264685 single nucleotide variant NM_003482.3(KMT2D):c.13999+1G>A 886041779 MedGen:CN221809 12 49424062 49424062 C T 264685 single nucleotide variant NM_003482.3(KMT2D):c.13999+1G>A 886041779 MedGen:CN221809 12 49030279 49030279 C T 264687 duplication NM_003482.3(KMT2D):c.8650dupG (p.Val2884Glyfs) 886041556 MedGen:CN221809 12 49432489 49432489 C CC 264687 duplication NM_003482.3(KMT2D):c.8650dupG (p.Val2884Glyfs) 886041556 MedGen:CN221809 12 49038706 49038706 C CC 264689 single nucleotide variant NM_003482.3(KMT2D):c.5707C>T (p.Arg1903Ter) 886041405 MedGen:CN221809 12 49436599 49436599 G A 264689 single nucleotide variant NM_003482.3(KMT2D):c.5707C>T (p.Arg1903Ter) 886041405 MedGen:CN221809 12 49042816 49042816 G A 264691 single nucleotide variant NM_003482.3(KMT2D):c.4693+1G>T 886041406 MedGen:CN221809 12 49439847 49439847 C A 264691 single nucleotide variant NM_003482.3(KMT2D):c.4693+1G>T 886041406 MedGen:CN221809 12 49046064 49046064 C A 265504 single nucleotide variant NM_003482.3(KMT2D):c.7478G>A (p.Gly2493Glu) 833819 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49434075 49434075 C T 265504 single nucleotide variant NM_003482.3(KMT2D):c.7478G>A (p.Gly2493Glu) 833819 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49040292 49040292 C T 265603 single nucleotide variant NM_003482.3(KMT2D):c.192G>A (p.Arg64=) 375169999 MedGen:CN169374 12 49448519 49448519 C T 265603 single nucleotide variant NM_003482.3(KMT2D):c.192G>A (p.Arg64=) 375169999 MedGen:CN169374 12 49054736 49054736 C T 265730 single nucleotide variant NM_003482.3(KMT2D):c.4401C>T (p.Gly1467=) 192659833 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49440409 49440409 G A 265730 single nucleotide variant NM_003482.3(KMT2D):c.4401C>T (p.Gly1467=) 192659833 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49046626 49046626 G A 265890 single nucleotide variant NM_003482.3(KMT2D):c.14984C>G (p.Thr4995Ser) 886042207 MedGen:CN169374 12 49420765 49420765 G C 265890 single nucleotide variant NM_003482.3(KMT2D):c.14984C>G (p.Thr4995Ser) 886042207 MedGen:CN169374 12 49026982 49026982 G C 265914 single nucleotide variant NM_003482.3(KMT2D):c.7934G>A (p.Arg2645Gln) 375980443 MedGen:CN169374 12 49433619 49433619 C T 265914 single nucleotide variant NM_003482.3(KMT2D):c.7934G>A (p.Arg2645Gln) 375980443 MedGen:CN169374 12 49039836 49039836 C T 266113 single nucleotide variant NM_003482.3(KMT2D):c.12039A>G (p.Gly4013=) 567323882 MedGen:CN169374 12 49426449 49426449 T C 266113 single nucleotide variant NM_003482.3(KMT2D):c.12039A>G (p.Gly4013=) 567323882 MedGen:CN169374 12 49032666 49032666 T C 266121 single nucleotide variant NM_003482.3(KMT2D):c.11713C>T (p.Gln3905Ter) 886042253 MedGen:CN030661,OMIM:147920 12 49426775 49426775 G A 266121 single nucleotide variant NM_003482.3(KMT2D):c.11713C>T (p.Gln3905Ter) 886042253 MedGen:CN030661,OMIM:147920 12 49032992 49032992 G A 266225 single nucleotide variant NM_003482.3(KMT2D):c.7829T>C (p.Leu2610Pro) 200998047 MedGen:CN169374 12 49433724 49433724 A G 266225 single nucleotide variant NM_003482.3(KMT2D):c.7829T>C (p.Leu2610Pro) 200998047 MedGen:CN169374 12 49039941 49039941 A G 266250 single nucleotide variant NM_003482.3(KMT2D):c.5181C>T (p.Pro1727=) 201686029 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49437990 49437990 G A 266250 single nucleotide variant NM_003482.3(KMT2D):c.5181C>T (p.Pro1727=) 201686029 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49044207 49044207 G A 266251 deletion NM_003482.3(KMT2D):c.1966delC (p.Leu656Cysfs) 886042284 MedGen:CN030661,OMIM:147920 12 49445500 49445500 G - 266251 deletion NM_003482.3(KMT2D):c.1966delC (p.Leu656Cysfs) 886042284 MedGen:CN030661,OMIM:147920 12 49051717 49051717 G - 266295 deletion NM_003482.3(KMT2D):c.11864_11893del30 (p.Leu3955_Gln3964del) 886042299 MedGen:CN169374 12 49426595 49426624 GCTGCTGTTGTTGTTGCTGTTGCTGTTGTA - 266295 deletion NM_003482.3(KMT2D):c.11864_11893del30 (p.Leu3955_Gln3964del) 886042299 MedGen:CN169374 12 49032812 49032841 na na 266346 single nucleotide variant NM_003482.3(KMT2D):c.3405A>G (p.Pro1135=) 886042311 MedGen:CN169374 12 49443966 49443966 T C 266346 single nucleotide variant NM_003482.3(KMT2D):c.3405A>G (p.Pro1135=) 886042311 MedGen:CN169374 12 49050183 49050183 T C 266577 single nucleotide variant NM_003482.3(KMT2D):c.9729C>T (p.Ser3243=) 369959158 MedGen:CN169374 12 49431410 49431410 G A 266577 single nucleotide variant NM_003482.3(KMT2D):c.9729C>T (p.Ser3243=) 369959158 MedGen:CN169374 12 49037627 49037627 G A 267356 single nucleotide variant NM_003482.3(KMT2D):c.7629G>A (p.Gly2543=) 201357509 MedGen:CN169374 12 49433924 49433924 C T 267356 single nucleotide variant NM_003482.3(KMT2D):c.7629G>A (p.Gly2543=) 201357509 MedGen:CN169374 12 49040141 49040141 C T 267357 single nucleotide variant NM_003482.3(KMT2D):c.1010C>T (p.Ser337Leu) 200245957 MedGen:CN169374 12 49446800 49446800 G A 267357 single nucleotide variant NM_003482.3(KMT2D):c.1010C>T (p.Ser337Leu) 200245957 MedGen:CN169374 12 49053017 49053017 G A 267420 single nucleotide variant NM_003482.3(KMT2D):c.2206C>T (p.Pro736Ser) 552543556 MedGen:CN169374 12 49445260 49445260 G A 267420 single nucleotide variant NM_003482.3(KMT2D):c.2206C>T (p.Pro736Ser) 552543556 MedGen:CN169374 12 49051477 49051477 G A 268048 single nucleotide variant NM_003482.3(KMT2D):c.7109G>C (p.Arg2370Pro) 373234419 MedGen:CN169374 12 49434444 49434444 C G 268048 single nucleotide variant NM_003482.3(KMT2D):c.7109G>C (p.Arg2370Pro) 373234419 MedGen:CN169374 12 49040661 49040661 C G 268141 single nucleotide variant NM_003482.3(KMT2D):c.3641G>A (p.Gly1214Asp) 886042736 MedGen:CN169374 12 49443730 49443730 C T 268141 single nucleotide variant NM_003482.3(KMT2D):c.3641G>A (p.Gly1214Asp) 886042736 MedGen:CN169374 12 49049947 49049947 C T 268701 single nucleotide variant NM_003482.3(KMT2D):c.1779A>G (p.Pro593=) 886042877 MedGen:CN169374 12 49445687 49445687 T C 268701 single nucleotide variant NM_003482.3(KMT2D):c.1779A>G (p.Pro593=) 886042877 MedGen:CN169374 12 49051904 49051904 T C 268763 single nucleotide variant NM_003482.3(KMT2D):c.5899G>A (p.Gly1967Ser) 886042896 MedGen:CN169374 12 49436082 49436082 C T 268763 single nucleotide variant NM_003482.3(KMT2D):c.5899G>A (p.Gly1967Ser) 886042896 MedGen:CN169374 12 49042299 49042299 C T 268775 single nucleotide variant NM_003482.3(KMT2D):c.3343T>C (p.Phe1115Leu) 886042898 MedGen:CN169374 12 49444028 49444028 A G 268775 single nucleotide variant NM_003482.3(KMT2D):c.3343T>C (p.Phe1115Leu) 886042898 MedGen:CN169374 12 49050245 49050245 A G 269251 single nucleotide variant NM_003482.3(KMT2D):c.2551C>T (p.Leu851=) 186151848 MedGen:CN169374 12 49444915 49444915 G A 269251 single nucleotide variant NM_003482.3(KMT2D):c.2551C>T (p.Leu851=) 186151848 MedGen:CN169374 12 49051132 49051132 G A 269253 single nucleotide variant NM_003482.3(KMT2D):c.840-6C>T 182926808 MedGen:CN169374 12 49447110 49447110 G A 269253 single nucleotide variant NM_003482.3(KMT2D):c.840-6C>T 182926808 MedGen:CN169374 12 49053327 49053327 G A 269630 deletion NM_003482.3(KMT2D):c.2088_2114del27 (p.Thr698_Pro706del) 780334086 MedGen:CN169374 12 49445352 49445378 GAGTCCTCAGGTGGTGGGGATGTGGGG - 269630 deletion NM_003482.3(KMT2D):c.2088_2114del27 (p.Thr698_Pro706del) 780334086 MedGen:CN169374 12 49051569 49051595 na na 269791 single nucleotide variant NM_003482.3(KMT2D):c.3813A>T (p.Leu1271=) 201794205 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49443558 49443558 T A 269791 single nucleotide variant NM_003482.3(KMT2D):c.3813A>T (p.Leu1271=) 201794205 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49049775 49049775 T A 269852 single nucleotide variant NM_003482.3(KMT2D):c.11342G>C (p.Ser3781Thr) 368670448 MedGen:CN169374 12 49427146 49427146 C G 269852 single nucleotide variant NM_003482.3(KMT2D):c.11342G>C (p.Ser3781Thr) 368670448 MedGen:CN169374 12 49033363 49033363 C G 270086 single nucleotide variant NM_003482.3(KMT2D):c.13871C>T (p.Ser4624Leu) 886043233 MedGen:CN169374 12 49424191 49424191 G A 270086 single nucleotide variant NM_003482.3(KMT2D):c.13871C>T (p.Ser4624Leu) 886043233 MedGen:CN169374 12 49030408 49030408 G A 270159 deletion NM_003482.3(KMT2D):c.9041_9042delTG (p.Leu3014Argfs) 886043252 MedGen:CN030661,OMIM:147920 12 49432097 49432098 CA - 270159 deletion NM_003482.3(KMT2D):c.9041_9042delTG (p.Leu3014Argfs) 886043252 MedGen:CN030661,OMIM:147920 12 49038314 49038315 CA - 270518 single nucleotide variant NM_003482.3(KMT2D):c.4389C>T (p.Thr1463=) 372775501 MedGen:CN169374 12 49440421 49440421 G A 270518 single nucleotide variant NM_003482.3(KMT2D):c.4389C>T (p.Thr1463=) 372775501 MedGen:CN169374 12 49046638 49046638 G A 270568 single nucleotide variant NM_003482.3(KMT2D):c.2847G>A (p.Pro949=) 369436545 MedGen:CN169374 12 49444524 49444524 C T 270568 single nucleotide variant NM_003482.3(KMT2D):c.2847G>A (p.Pro949=) 369436545 MedGen:CN169374 12 49050741 49050741 C T 270764 single nucleotide variant NM_003482.3(KMT2D):c.5104C>T (p.Arg1702Ter) 886043414 MedGen:CN030661,OMIM:147920 12 49438067 49438067 G A 270764 single nucleotide variant NM_003482.3(KMT2D):c.5104C>T (p.Arg1702Ter) 886043414 MedGen:CN030661,OMIM:147920 12 49044284 49044284 G A 271069 duplication NM_003482.3(KMT2D):c.7643dupA (p.Pro2549Alafs) 886043495 MedGen:CN030661,OMIM:147920 12 49040127 49040127 T TT 271069 duplication NM_003482.3(KMT2D):c.7643dupA (p.Pro2549Alafs) 886043495 MedGen:CN030661,OMIM:147920 12 49433910 49433910 T TT 271071 single nucleotide variant NM_003482.3(KMT2D):c.15461G>A (p.Arg5154Gln) 886043497 MedGen:CN169374 12 49420288 49420288 C T 271071 single nucleotide variant NM_003482.3(KMT2D):c.15461G>A (p.Arg5154Gln) 886043497 MedGen:CN169374 12 49026505 49026505 C T 271111 deletion NM_003482.3(KMT2D):c.13324delG (p.Ala4442Hisfs) 886043505 MedGen:CN030661,OMIM:147920 12 49425164 49425164 C - 271111 deletion NM_003482.3(KMT2D):c.13324delG (p.Ala4442Hisfs) 886043505 MedGen:CN030661,OMIM:147920 12 49031381 49031381 C - 271113 deletion NM_003482.3(KMT2D):c.5124_5125delAC (p.Arg1709Hisfs) 886043506 MedGen:CN030661,OMIM:147920 12 49438046 49438047 GT - 271113 deletion NM_003482.3(KMT2D):c.5124_5125delAC (p.Arg1709Hisfs) 886043506 MedGen:CN030661,OMIM:147920 12 49044263 49044264 GT - 271471 single nucleotide variant NM_003482.3(KMT2D):c.10232-4C>G 886043599 MedGen:CN169374 12 49428722 49428722 G C 271471 single nucleotide variant NM_003482.3(KMT2D):c.10232-4C>G 886043599 MedGen:CN169374 12 49034939 49034939 G C 271508 single nucleotide variant NM_003482.3(KMT2D):c.8382C>A (p.Gly2794=) 368967997 MedGen:CN169374 12 49432757 49432757 G T 271508 single nucleotide variant NM_003482.3(KMT2D):c.8382C>A (p.Gly2794=) 368967997 MedGen:CN169374 12 49038974 49038974 G T 271925 single nucleotide variant NM_003482.3(KMT2D):c.7764C>G (p.His2588Gln) 886043697 MedGen:CN169374 12 49433789 49433789 G C 271925 single nucleotide variant NM_003482.3(KMT2D):c.7764C>G (p.His2588Gln) 886043697 MedGen:CN169374 12 49040006 49040006 G C 271926 single nucleotide variant NM_003482.3(KMT2D):c.13898C>T (p.Ser4633Leu) 373146997 MedGen:CN169374 12 49424164 49424164 G A 271926 single nucleotide variant NM_003482.3(KMT2D):c.13898C>T (p.Ser4633Leu) 373146997 MedGen:CN169374 12 49030381 49030381 G A 273203 single nucleotide variant NM_003482.3(KMT2D):c.16522-4T>G 779139301 MedGen:CN169374 12 49415659 49415659 A C 273203 single nucleotide variant NM_003482.3(KMT2D):c.16522-4T>G 779139301 MedGen:CN169374 12 49021876 49021876 A C 273501 single nucleotide variant NM_003482.3(KMT2D):c.1781C>T (p.Pro594Leu) 190079343 MedGen:CN169374 12 49445685 49445685 G A 273501 single nucleotide variant NM_003482.3(KMT2D):c.1781C>T (p.Pro594Leu) 190079343 MedGen:CN169374 12 49051902 49051902 G A 273744 single nucleotide variant NM_003482.3(KMT2D):c.12728A>C (p.Tyr4243Ser) 886044194 MedGen:CN169374 12 49425760 49425760 T G 273744 single nucleotide variant NM_003482.3(KMT2D):c.12728A>C (p.Tyr4243Ser) 886044194 MedGen:CN169374 12 49031977 49031977 T G 273932 single nucleotide variant NM_003482.3(KMT2D):c.14643+12G>A 186670730 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49421574 49421574 C T 273932 single nucleotide variant NM_003482.3(KMT2D):c.14643+12G>A 186670730 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004;MedGen:CN169374 12 49027791 49027791 C T 274081 single nucleotide variant NM_003482.3(KMT2D):c.5503C>T (p.Arg1835Cys) 371685892 MedGen:CN169374 12 49437176 49437176 G A 274081 single nucleotide variant NM_003482.3(KMT2D):c.5503C>T (p.Arg1835Cys) 371685892 MedGen:CN169374 12 49043393 49043393 G A 274276 single nucleotide variant NM_003482.3(KMT2D):c.5526T>C (p.Asp1842=) 137955659 MedGen:CN169374 12 49437153 49437153 A G 274276 single nucleotide variant NM_003482.3(KMT2D):c.5526T>C (p.Asp1842=) 137955659 MedGen:CN169374 12 49043370 49043370 A G 274657 single nucleotide variant NM_003482.3(KMT2D):c.6409A>G (p.Thr2137Ala) 543241831 MedGen:CN169374 12 49435144 49435144 T C 274657 single nucleotide variant NM_003482.3(KMT2D):c.6409A>G (p.Thr2137Ala) 543241831 MedGen:CN169374 12 49041361 49041361 T C 274922 single nucleotide variant NM_003482.3(KMT2D):c.5892G>A (p.Pro1964=) 761930376 MedGen:CN169374 12 49436089 49436089 C T 274922 single nucleotide variant NM_003482.3(KMT2D):c.5892G>A (p.Pro1964=) 761930376 MedGen:CN169374 12 49042306 49042306 C T 275399 single nucleotide variant NM_003482.3(KMT2D):c.9474G>C (p.Gln3158His) 770522446 MedGen:CN169374 12 49431665 49431665 C G 275399 single nucleotide variant NM_003482.3(KMT2D):c.9474G>C (p.Gln3158His) 770522446 MedGen:CN169374 12 49037882 49037882 C G 275417 single nucleotide variant NM_003482.3(KMT2D):c.15274T>C (p.Cys5092Arg) 886044678 MedGen:CN169374 12 49420475 49420475 A G 275417 single nucleotide variant NM_003482.3(KMT2D):c.15274T>C (p.Cys5092Arg) 886044678 MedGen:CN169374 12 49026692 49026692 A G 317303 single nucleotide variant NM_003482.3(KMT2D):c.*2354G>T 537330938 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49019426 49019426 C A 317303 single nucleotide variant NM_003482.3(KMT2D):c.*2354G>T 537330938 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49413209 49413209 C A 317304 single nucleotide variant NM_003482.3(KMT2D):c.*2077G>A 7975791 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49413486 49413486 C T 317304 single nucleotide variant NM_003482.3(KMT2D):c.*2077G>A 7975791 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49019703 49019703 C T 317309 deletion NM_003482.3(KMT2D):c.*1982delT 879897260 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49413581 49413581 A - 317309 deletion NM_003482.3(KMT2D):c.*1982delT 879897260 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49019798 49019798 A - 317310 single nucleotide variant NM_003482.3(KMT2D):c.*1505T>G 886049462 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49020275 49020275 A C 317310 single nucleotide variant NM_003482.3(KMT2D):c.*1505T>G 886049462 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49414058 49414058 A C 317311 single nucleotide variant NM_003482.3(KMT2D):c.*108G>C 886049470 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49021672 49021672 C G 317311 single nucleotide variant NM_003482.3(KMT2D):c.*108G>C 886049470 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49415455 49415455 C G 317313 single nucleotide variant NM_003482.3(KMT2D):c.15694A>G (p.Ile5232Val) 199593058 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49420055 49420055 T C 317313 single nucleotide variant NM_003482.3(KMT2D):c.15694A>G (p.Ile5232Val) 199593058 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49026272 49026272 T C 317314 single nucleotide variant NM_003482.3(KMT2D):c.15120C>T (p.Asp5040=) 143955226 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49026846 49026846 G A 317314 single nucleotide variant NM_003482.3(KMT2D):c.15120C>T (p.Asp5040=) 143955226 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49420629 49420629 G A 317321 single nucleotide variant NM_003482.3(KMT2D):c.14883C>T (p.Pro4961=) 770276955 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49027083 49027083 G A 317321 single nucleotide variant NM_003482.3(KMT2D):c.14883C>T (p.Pro4961=) 770276955 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49420866 49420866 G A 317326 single nucleotide variant NM_003482.3(KMT2D):c.13630G>A (p.Gly4544Arg) 778793714 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49030934 49030934 C T 317326 single nucleotide variant NM_003482.3(KMT2D):c.13630G>A (p.Gly4544Arg) 778793714 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49424717 49424717 C T 317329 single nucleotide variant NM_003482.3(KMT2D):c.12945A>C (p.Gln4315His) 886049474 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49425543 49425543 T G 317329 single nucleotide variant NM_003482.3(KMT2D):c.12945A>C (p.Gln4315His) 886049474 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49031760 49031760 T G 317330 single nucleotide variant NM_003482.3(KMT2D):c.12803G>A (p.Gly4268Glu) 368301050 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49425685 49425685 C T 317330 single nucleotide variant NM_003482.3(KMT2D):c.12803G>A (p.Gly4268Glu) 368301050 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49031902 49031902 C T 317342 single nucleotide variant NM_003482.3(KMT2D):c.12682C>G (p.Gln4228Glu) 745466012 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49425806 49425806 G C 317342 single nucleotide variant NM_003482.3(KMT2D):c.12682C>G (p.Gln4228Glu) 745466012 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49032023 49032023 G C 317344 single nucleotide variant NM_003482.3(KMT2D):c.12084C>T (p.Thr4028=) 553360102 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49426404 49426404 G A 317344 single nucleotide variant NM_003482.3(KMT2D):c.12084C>T (p.Thr4028=) 553360102 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49032621 49032621 G A 317345 single nucleotide variant NM_003482.3(KMT2D):c.11195A>G (p.Gln3732Arg) 886049477 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49033510 49033510 T C 317345 single nucleotide variant NM_003482.3(KMT2D):c.11195A>G (p.Gln3732Arg) 886049477 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49427293 49427293 T C 317347 single nucleotide variant NM_003482.3(KMT2D):c.11178A>G (p.Gln3726=) 753715045 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49033527 49033527 T C 317347 single nucleotide variant NM_003482.3(KMT2D):c.11178A>G (p.Gln3726=) 753715045 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49427310 49427310 T C 317348 duplication NM_003482.3(KMT2D):c.11168_11173dupTGCAGC (p.Gln3724_Gln3725insLeuGln) 771711980 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49033532 49033537 GCTGCA GCTGCAGCTGCA 317348 duplication NM_003482.3(KMT2D):c.11168_11173dupTGCAGC (p.Gln3724_Gln3725insLeuGln) 771711980 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49427315 49427320 GCTGCA GCTGCAGCTGCA 317349 single nucleotide variant NM_003482.3(KMT2D):c.10179G>A (p.Pro3393=) 368612015 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49037177 49037177 C T 317349 single nucleotide variant NM_003482.3(KMT2D):c.10179G>A (p.Pro3393=) 368612015 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49430960 49430960 C T 317356 single nucleotide variant NM_003482.3(KMT2D):c.9959C>T (p.Ala3320Val) 886049478 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49037397 49037397 G A 317356 single nucleotide variant NM_003482.3(KMT2D):c.9959C>T (p.Ala3320Val) 886049478 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49431180 49431180 G A 317358 single nucleotide variant NM_003482.3(KMT2D):c.6585C>T (p.Thr2195=) 760993744 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49041185 49041185 G A 317358 single nucleotide variant NM_003482.3(KMT2D):c.6585C>T (p.Thr2195=) 760993744 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49434968 49434968 G A 317364 deletion NM_003482.3(KMT2D):c.5257_5259delAAG (p.Lys1753del) 886049482 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49043928 49043930 CTT - 317364 deletion NM_003482.3(KMT2D):c.5257_5259delAAG (p.Lys1753del) 886049482 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49437711 49437713 CTT - 317368 single nucleotide variant NM_003482.3(KMT2D):c.5231G>A (p.Ser1744Asn) 377119237 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49437739 49437739 C T 317368 single nucleotide variant NM_003482.3(KMT2D):c.5231G>A (p.Ser1744Asn) 377119237 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49043956 49043956 C T 317370 single nucleotide variant NM_003482.3(KMT2D):c.4000T>G (p.Ser1334Ala) 750081274 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49442908 49442908 A C 317370 single nucleotide variant NM_003482.3(KMT2D):c.4000T>G (p.Ser1334Ala) 750081274 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49049125 49049125 A C 317372 single nucleotide variant NM_003482.3(KMT2D):c.3408G>A (p.Glu1136=) 372234918 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49050180 49050180 C T 317372 single nucleotide variant NM_003482.3(KMT2D):c.3408G>A (p.Glu1136=) 372234918 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49443963 49443963 C T 317376 single nucleotide variant NM_003482.3(KMT2D):c.2737G>A (p.Glu913Lys) 199724002 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49050946 49050946 C T 317376 single nucleotide variant NM_003482.3(KMT2D):c.2737G>A (p.Glu913Lys) 199724002 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49444729 49444729 C T 317379 single nucleotide variant NM_003482.3(KMT2D):c.1155C>T (p.Pro385=) 545791832 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49052667 49052667 G A 317379 single nucleotide variant NM_003482.3(KMT2D):c.1155C>T (p.Pro385=) 545791832 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49446450 49446450 G A 317380 single nucleotide variant NM_003482.3(KMT2D):c.188T>C (p.Val63Ala) 886049488 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49054740 49054740 A G 317380 single nucleotide variant NM_003482.3(KMT2D):c.188T>C (p.Val63Ala) 886049488 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49448523 49448523 A G 325047 single nucleotide variant NM_003482.3(KMT2D):c.*2804A>G 552111682 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49018976 49018976 T C 325047 single nucleotide variant NM_003482.3(KMT2D):c.*2804A>G 552111682 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49412759 49412759 T C 325063 single nucleotide variant NM_003482.3(KMT2D):c.*2208T>C 77945935 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49019572 49019572 A G 325063 single nucleotide variant NM_003482.3(KMT2D):c.*2208T>C 77945935 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49413355 49413355 A G 325064 single nucleotide variant NM_003482.3(KMT2D):c.*2146C>A 559450337 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49413417 49413417 G T 325064 single nucleotide variant NM_003482.3(KMT2D):c.*2146C>A 559450337 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49019634 49019634 G T 325072 single nucleotide variant NM_003482.3(KMT2D):c.*2044C>A 190063096 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49413519 49413519 G T 325072 single nucleotide variant NM_003482.3(KMT2D):c.*2044C>A 190063096 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49019736 49019736 G T 325077 single nucleotide variant NM_003482.3(KMT2D):c.*1693G>A 886049461 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49413870 49413870 C T 325077 single nucleotide variant NM_003482.3(KMT2D):c.*1693G>A 886049461 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49020087 49020087 C T 325078 single nucleotide variant NM_003482.3(KMT2D):c.*1529G>C 765434154 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49414034 49414034 C G 325078 single nucleotide variant NM_003482.3(KMT2D):c.*1529G>C 765434154 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49020251 49020251 C G 325082 single nucleotide variant NM_003482.3(KMT2D):c.*1322A>G 886049463 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49020458 49020458 T C 325082 single nucleotide variant NM_003482.3(KMT2D):c.*1322A>G 886049463 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49414241 49414241 T C 325095 single nucleotide variant NM_003482.3(KMT2D):c.*1026G>T 886049465 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49020754 49020754 C A 325095 single nucleotide variant NM_003482.3(KMT2D):c.*1026G>T 886049465 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49414537 49414537 C A 325113 single nucleotide variant NM_003482.3(KMT2D):c.*362C>T 532505729 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49021418 49021418 G A 325113 single nucleotide variant NM_003482.3(KMT2D):c.*362C>T 532505729 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49415201 49415201 G A 325115 deletion NM_003482.3(KMT2D):c.*296delG 745739172 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49021484 49021484 C - 325115 deletion NM_003482.3(KMT2D):c.*296delG 745739172 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49415267 49415267 C - 325122 single nucleotide variant NM_003482.3(KMT2D):c.*69G>T 886049471 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49021711 49021711 C A 325122 single nucleotide variant NM_003482.3(KMT2D):c.*69G>T 886049471 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49415494 49415494 C A 325123 single nucleotide variant NM_003482.3(KMT2D):c.15085A>C (p.Met5029Leu) 540734063 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49026881 49026881 T G 325123 single nucleotide variant NM_003482.3(KMT2D):c.15085A>C (p.Met5029Leu) 540734063 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49420664 49420664 T G 325132 single nucleotide variant NM_003482.3(KMT2D):c.14202C>T (p.Asp4734=) 200979074 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49029110 49029110 G A 325132 single nucleotide variant NM_003482.3(KMT2D):c.14202C>T (p.Asp4734=) 200979074 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49422893 49422893 G A 325134 single nucleotide variant NM_003482.3(KMT2D):c.14161C>T (p.Arg4721Cys) 777064703 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49029151 49029151 G A 325134 single nucleotide variant NM_003482.3(KMT2D):c.14161C>T (p.Arg4721Cys) 777064703 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49422934 49422934 G A 325135 single nucleotide variant NM_003482.3(KMT2D):c.13457A>G (p.Glu4486Gly) 886049473 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49031248 49031248 T C 325135 single nucleotide variant NM_003482.3(KMT2D):c.13457A>G (p.Glu4486Gly) 886049473 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49425031 49425031 T C 325137 single nucleotide variant NM_003482.3(KMT2D):c.11671G>A (p.Ala3891Thr) 886049476 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49033034 49033034 C T 325137 single nucleotide variant NM_003482.3(KMT2D):c.11671G>A (p.Ala3891Thr) 886049476 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49426817 49426817 C T 325138 single nucleotide variant NM_003482.3(KMT2D):c.9958G>A (p.Ala3320Thr) 763426078 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49037398 49037398 C T 325138 single nucleotide variant NM_003482.3(KMT2D):c.9958G>A (p.Ala3320Thr) 763426078 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49431181 49431181 C T 325139 single nucleotide variant NM_003482.3(KMT2D):c.9709G>A (p.Glu3237Lys) 886049479 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49037647 49037647 C T 325139 single nucleotide variant NM_003482.3(KMT2D):c.9709G>A (p.Glu3237Lys) 886049479 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49431430 49431430 C T 325146 single nucleotide variant NM_003482.3(KMT2D):c.8813C>T (p.Pro2938Leu) 142395705 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49038543 49038543 G A 325146 single nucleotide variant NM_003482.3(KMT2D):c.8813C>T (p.Pro2938Leu) 142395705 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49432326 49432326 G A 325152 single nucleotide variant NM_003482.3(KMT2D):c.7607T>C (p.Phe2536Ser) 199628497 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49040163 49040163 A G 325152 single nucleotide variant NM_003482.3(KMT2D):c.7607T>C (p.Phe2536Ser) 199628497 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49433946 49433946 A G 325155 single nucleotide variant NM_003482.3(KMT2D):c.7060C>T (p.Pro2354Ser) 369458206 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49040710 49040710 G A 325155 single nucleotide variant NM_003482.3(KMT2D):c.7060C>T (p.Pro2354Ser) 369458206 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49434493 49434493 G A 325156 single nucleotide variant NM_003482.3(KMT2D):c.6868G>A (p.Glu2290Lys) 886049480 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49040902 49040902 C T 325156 single nucleotide variant NM_003482.3(KMT2D):c.6868G>A (p.Glu2290Lys) 886049480 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49434685 49434685 C T 325165 single nucleotide variant NM_003482.3(KMT2D):c.6437C>T (p.Pro2146Leu) 563981206 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49041333 49041333 G A 325165 single nucleotide variant NM_003482.3(KMT2D):c.6437C>T (p.Pro2146Leu) 563981206 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49435116 49435116 G A 325167 single nucleotide variant NM_003482.3(KMT2D):c.4694C>T (p.Ala1565Val) 200119692 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49439750 49439750 G A 325167 single nucleotide variant NM_003482.3(KMT2D):c.4694C>T (p.Ala1565Val) 200119692 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49045967 49045967 G A 325169 single nucleotide variant NM_003482.3(KMT2D):c.4163G>T (p.Arg1388Leu) 202217665 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49441821 49441821 C A 325169 single nucleotide variant NM_003482.3(KMT2D):c.4163G>T (p.Arg1388Leu) 202217665 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49048038 49048038 C A 325170 single nucleotide variant NM_003482.3(KMT2D):c.3737C>T (p.Thr1246Met) 112921115 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49443634 49443634 G A 325170 single nucleotide variant NM_003482.3(KMT2D):c.3737C>T (p.Thr1246Met) 112921115 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49049851 49049851 G A 325172 single nucleotide variant NM_003482.3(KMT2D):c.3471C>T (p.Pro1157=) 770863450 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49050117 49050117 G A 325172 single nucleotide variant NM_003482.3(KMT2D):c.3471C>T (p.Pro1157=) 770863450 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49443900 49443900 G A 325173 single nucleotide variant NM_003482.3(KMT2D):c.3180G>T (p.Lys1060Asn) 201568916 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49050408 49050408 C A 325173 single nucleotide variant NM_003482.3(KMT2D):c.3180G>T (p.Lys1060Asn) 201568916 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49444191 49444191 C A 325176 single nucleotide variant NM_003482.3(KMT2D):c.2995A>G (p.Met999Val) 368584537 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49050593 49050593 T C 325176 single nucleotide variant NM_003482.3(KMT2D):c.2995A>G (p.Met999Val) 368584537 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49444376 49444376 T C 325179 single nucleotide variant NM_003482.3(KMT2D):c.2671T>G (p.Leu891Val) 886049485 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49051012 49051012 A C 325179 single nucleotide variant NM_003482.3(KMT2D):c.2671T>G (p.Leu891Val) 886049485 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49444795 49444795 A C 325199 single nucleotide variant NM_003482.3(KMT2D):c.2406G>A (p.Glu802=) 781090162 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49051277 49051277 C T 325199 single nucleotide variant NM_003482.3(KMT2D):c.2406G>A (p.Glu802=) 781090162 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49445060 49445060 C T 325210 single nucleotide variant NM_003482.3(KMT2D):c.1259-13G>A 373466438 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49052437 49052437 C T 325210 single nucleotide variant NM_003482.3(KMT2D):c.1259-13G>A 373466438 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49446220 49446220 C T 331220 single nucleotide variant NM_003482.3(KMT2D):c.*2645T>C 185652670 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49019135 49019135 A G 331220 single nucleotide variant NM_003482.3(KMT2D):c.*2645T>C 185652670 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49412918 49412918 A G 331224 single nucleotide variant NM_003482.3(KMT2D):c.*1982T>A 886049459 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49413581 49413581 A T 331224 single nucleotide variant NM_003482.3(KMT2D):c.*1982T>A 886049459 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49019798 49019798 A T 331231 single nucleotide variant NM_003482.3(KMT2D):c.*1540A>G 12315734 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49414023 49414023 T C 331231 single nucleotide variant NM_003482.3(KMT2D):c.*1540A>G 12315734 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49020240 49020240 T C 331232 deletion NM_003482.3(KMT2D):c.*1043delG 886049464 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49020737 49020737 C - 331232 deletion NM_003482.3(KMT2D):c.*1043delG 886049464 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49414520 49414520 C - 331235 single nucleotide variant NM_003482.3(KMT2D):c.*1041G>T 563489548 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49020739 49020739 C A 331235 single nucleotide variant NM_003482.3(KMT2D):c.*1041G>T 563489548 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49414522 49414522 C A 331236 single nucleotide variant NM_003482.3(KMT2D):c.*815C>T 192035980 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49020965 49020965 G A 331236 single nucleotide variant NM_003482.3(KMT2D):c.*815C>T 192035980 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49414748 49414748 G A 331246 single nucleotide variant NM_003482.3(KMT2D):c.*456C>G 564266476 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49021324 49021324 G C 331246 single nucleotide variant NM_003482.3(KMT2D):c.*456C>G 564266476 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49415107 49415107 G C 331253 single nucleotide variant NM_003482.3(KMT2D):c.*207C>T 546353502 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49021573 49021573 G A 331253 single nucleotide variant NM_003482.3(KMT2D):c.*207C>T 546353502 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49415356 49415356 G A 331257 single nucleotide variant NM_003482.3(KMT2D):c.*204C>G 886049468 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49021576 49021576 G C 331257 single nucleotide variant NM_003482.3(KMT2D):c.*204C>G 886049468 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49415359 49415359 G C 331260 single nucleotide variant NM_003482.3(KMT2D):c.*127C>G 886049469 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49021653 49021653 G C 331260 single nucleotide variant NM_003482.3(KMT2D):c.*127C>G 886049469 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49415436 49415436 G C 331261 single nucleotide variant NM_003482.3(KMT2D):c.16566G>A (p.Lys5522=) 757316408 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49021828 49021828 C T 331261 single nucleotide variant NM_003482.3(KMT2D):c.16566G>A (p.Lys5522=) 757316408 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49415611 49415611 C T 331262 single nucleotide variant NM_003482.3(KMT2D):c.14436C>T (p.Pro4812=) 369799687 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49028088 49028088 G A 331262 single nucleotide variant NM_003482.3(KMT2D):c.14436C>T (p.Pro4812=) 369799687 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49421871 49421871 G A 331272 single nucleotide variant NM_003482.3(KMT2D):c.14207C>T (p.Ala4736Val) 886049472 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49029105 49029105 G A 331272 single nucleotide variant NM_003482.3(KMT2D):c.14207C>T (p.Ala4736Val) 886049472 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49422888 49422888 G A 331275 single nucleotide variant NM_003482.3(KMT2D):c.14203C>T (p.Arg4735Trp) 751383638 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49029109 49029109 G A 331275 single nucleotide variant NM_003482.3(KMT2D):c.14203C>T (p.Arg4735Trp) 751383638 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49422892 49422892 G A 331278 single nucleotide variant NM_003482.3(KMT2D):c.14075+11G>C 770360649 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49029390 49029390 C G 331278 single nucleotide variant NM_003482.3(KMT2D):c.14075+11G>C 770360649 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49423173 49423173 C G 331280 single nucleotide variant NM_003482.3(KMT2D):c.12691C>T (p.Leu4231=) 760205474 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49425797 49425797 G A 331280 single nucleotide variant NM_003482.3(KMT2D):c.12691C>T (p.Leu4231=) 760205474 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49032014 49032014 G A 331298 single nucleotide variant NM_003482.3(KMT2D):c.12524C>A (p.Pro4175Gln) 200315963 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49425964 49425964 G T 331298 single nucleotide variant NM_003482.3(KMT2D):c.12524C>A (p.Pro4175Gln) 200315963 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49032181 49032181 G T 331304 single nucleotide variant NM_003482.3(KMT2D):c.11670C>T (p.Ser3890=) 376471354 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49033035 49033035 G A 331304 single nucleotide variant NM_003482.3(KMT2D):c.11670C>T (p.Ser3890=) 376471354 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49426818 49426818 G A 331308 single nucleotide variant NM_003482.3(KMT2D):c.11380C>T (p.Pro3794Ser) 113997424 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49033325 49033325 G A 331308 single nucleotide variant NM_003482.3(KMT2D):c.11380C>T (p.Pro3794Ser) 113997424 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49427108 49427108 G A 331309 single nucleotide variant NM_003482.3(KMT2D):c.11313C>A (p.Pro3771=) 200639395 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49033392 49033392 G T 331309 single nucleotide variant NM_003482.3(KMT2D):c.11313C>A (p.Pro3771=) 200639395 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49427175 49427175 G T 331310 single nucleotide variant NM_003482.3(KMT2D):c.8156G>C (p.Ser2719Thr) 199913341 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49039508 49039508 C G 331310 single nucleotide variant NM_003482.3(KMT2D):c.8156G>C (p.Ser2719Thr) 199913341 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49433291 49433291 C G 331311 single nucleotide variant NM_003482.3(KMT2D):c.8068C>T (p.Leu2690=) 370846697 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49039596 49039596 G A 331311 single nucleotide variant NM_003482.3(KMT2D):c.8068C>T (p.Leu2690=) 370846697 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49433379 49433379 G A 331315 single nucleotide variant NM_003482.3(KMT2D):c.7970C>T (p.Ala2657Val) 200913080 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49039800 49039800 G A 331315 single nucleotide variant NM_003482.3(KMT2D):c.7970C>T (p.Ala2657Val) 200913080 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49433583 49433583 G A 331335 single nucleotide variant NM_003482.3(KMT2D):c.7202G>A (p.Arg2401His) 375115132 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49040568 49040568 C T 331335 single nucleotide variant NM_003482.3(KMT2D):c.7202G>A (p.Arg2401His) 375115132 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49434351 49434351 C T 331340 single nucleotide variant NM_003482.3(KMT2D):c.7036G>A (p.Gly2346Ser) 761219768 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49040734 49040734 C T 331340 single nucleotide variant NM_003482.3(KMT2D):c.7036G>A (p.Gly2346Ser) 761219768 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49434517 49434517 C T 331343 single nucleotide variant NM_003482.3(KMT2D):c.6704G>A (p.Arg2235Lys) 551403860 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49041066 49041066 C T 331343 single nucleotide variant NM_003482.3(KMT2D):c.6704G>A (p.Arg2235Lys) 551403860 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49434849 49434849 C T 331345 single nucleotide variant NM_003482.3(KMT2D):c.6416C>T (p.Ala2139Val) 754730634 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49041354 49041354 G A 331345 single nucleotide variant NM_003482.3(KMT2D):c.6416C>T (p.Ala2139Val) 754730634 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49435137 49435137 G A 331348 single nucleotide variant NM_003482.3(KMT2D):c.4865G>C (p.Gly1622Ala) 377457393 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49438625 49438625 C G 331348 single nucleotide variant NM_003482.3(KMT2D):c.4865G>C (p.Gly1622Ala) 377457393 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49044842 49044842 C G 331354 single nucleotide variant NM_003482.3(KMT2D):c.4584-10T>C 755136735 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49439967 49439967 A G 331354 single nucleotide variant NM_003482.3(KMT2D):c.4584-10T>C 755136735 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49046184 49046184 A G 331356 single nucleotide variant NM_003482.3(KMT2D):c.4571G>A (p.Arg1524His) 886049483 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49440055 49440055 C T 331356 single nucleotide variant NM_003482.3(KMT2D):c.4571G>A (p.Arg1524His) 886049483 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49046272 49046272 C T 331372 single nucleotide variant NM_003482.3(KMT2D):c.3352C>T (p.Leu1118=) 765867951 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49050236 49050236 G A 331372 single nucleotide variant NM_003482.3(KMT2D):c.3352C>T (p.Leu1118=) 765867951 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49444019 49444019 G A 331383 single nucleotide variant NM_003482.3(KMT2D):c.3161C>T (p.Pro1054Leu) 758697574 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49050427 49050427 G A 331383 single nucleotide variant NM_003482.3(KMT2D):c.3161C>T (p.Pro1054Leu) 758697574 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49444210 49444210 G A 331386 single nucleotide variant NM_003482.3(KMT2D):c.3156C>T (p.Pro1052=) 770342892 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49050432 49050432 G A 331386 single nucleotide variant NM_003482.3(KMT2D):c.3156C>T (p.Pro1052=) 770342892 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49444215 49444215 G A 331391 single nucleotide variant NM_003482.3(KMT2D):c.2420C>A (p.Ser807Tyr) 757089451 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49051263 49051263 G T 331391 single nucleotide variant NM_003482.3(KMT2D):c.2420C>A (p.Ser807Tyr) 757089451 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49445046 49445046 G T 331403 single nucleotide variant NM_003482.3(KMT2D):c.1965C>A (p.Pro655=) 200939188 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49051718 49051718 G T 331403 single nucleotide variant NM_003482.3(KMT2D):c.1965C>A (p.Pro655=) 200939188 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49445501 49445501 G T 331404 single nucleotide variant NM_003482.3(KMT2D):c.1446A>G (p.Ala482=) 781413067 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49052237 49052237 T C 331404 single nucleotide variant NM_003482.3(KMT2D):c.1446A>G (p.Ala482=) 781413067 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49446020 49446020 T C 331408 single nucleotide variant NM_003482.3(KMT2D):c.1076G>A (p.Arg359His) 779668384 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49052951 49052951 C T 331408 single nucleotide variant NM_003482.3(KMT2D):c.1076G>A (p.Arg359His) 779668384 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49446734 49446734 C T 331410 single nucleotide variant NM_003482.3(KMT2D):c.695G>C (p.Cys232Ser) 886049486 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49053620 49053620 C G 331410 single nucleotide variant NM_003482.3(KMT2D):c.695G>C (p.Cys232Ser) 886049486 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49447403 49447403 C G 331422 single nucleotide variant NM_003482.3(KMT2D):c.295C>T (p.Pro99Ser) 886049487 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49054633 49054633 G A 331422 single nucleotide variant NM_003482.3(KMT2D):c.295C>T (p.Pro99Ser) 886049487 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49448416 49448416 G A 332727 single nucleotide variant NM_003482.3(KMT2D):c.*2642C>T 139469030 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49412921 49412921 G A 332727 single nucleotide variant NM_003482.3(KMT2D):c.*2642C>T 139469030 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49019138 49019138 G A 332729 single nucleotide variant NM_003482.3(KMT2D):c.*2549G>A 886049458 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49019231 49019231 C T 332729 single nucleotide variant NM_003482.3(KMT2D):c.*2549G>A 886049458 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49413014 49413014 C T 332732 single nucleotide variant NM_003482.3(KMT2D):c.*2387C>T 553627354 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49019393 49019393 G A 332732 single nucleotide variant NM_003482.3(KMT2D):c.*2387C>T 553627354 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49413176 49413176 G A 332733 single nucleotide variant NM_003482.3(KMT2D):c.*1694A>T 886049460 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49413869 49413869 T A 332733 single nucleotide variant NM_003482.3(KMT2D):c.*1694A>T 886049460 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49020086 49020086 T A 332737 duplication NM_003482.3(KMT2D):c.*463dupC 201717312 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49021317 49021317 G GG 332737 duplication NM_003482.3(KMT2D):c.*463dupC 201717312 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49415100 49415100 G GG 332739 single nucleotide variant NM_003482.3(KMT2D):c.*455A>C 886049466 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49021325 49021325 T G 332739 single nucleotide variant NM_003482.3(KMT2D):c.*455A>C 886049466 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49415108 49415108 T G 332740 single nucleotide variant NM_003482.3(KMT2D):c.*298C>T 886049467 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49021482 49021482 G A 332740 single nucleotide variant NM_003482.3(KMT2D):c.*298C>T 886049467 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49415265 49415265 G A 332742 single nucleotide variant NM_003482.3(KMT2D):c.15786C>T (p.Ala5262=) 531361015 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49024945 49024945 G A 332742 single nucleotide variant NM_003482.3(KMT2D):c.15786C>T (p.Ala5262=) 531361015 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49418728 49418728 G A 332743 single nucleotide variant NM_003482.3(KMT2D):c.15686G>A (p.Arg5229His) 201628357 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49026280 49026280 C T 332743 single nucleotide variant NM_003482.3(KMT2D):c.15686G>A (p.Arg5229His) 201628357 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49420063 49420063 C T 332749 single nucleotide variant NM_003482.3(KMT2D):c.13633G>T (p.Val4545Phe) 753655111 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49030931 49030931 C A 332749 single nucleotide variant NM_003482.3(KMT2D):c.13633G>T (p.Val4545Phe) 753655111 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49424714 49424714 C A 332757 single nucleotide variant NM_003482.3(KMT2D):c.13386C>T (p.Leu4462=) 759673318 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49031319 49031319 G A 332757 single nucleotide variant NM_003482.3(KMT2D):c.13386C>T (p.Leu4462=) 759673318 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49425102 49425102 G A 332759 single nucleotide variant NM_003482.3(KMT2D):c.13259G>A (p.Arg4420Gln) 375999143 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49031446 49031446 C T 332759 single nucleotide variant NM_003482.3(KMT2D):c.13259G>A (p.Arg4420Gln) 375999143 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49425229 49425229 C T 332769 single nucleotide variant NM_003482.3(KMT2D):c.13071G>C (p.Arg4357Ser) 533214351 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49425417 49425417 C G 332769 single nucleotide variant NM_003482.3(KMT2D):c.13071G>C (p.Arg4357Ser) 533214351 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49031634 49031634 C G 332770 single nucleotide variant NM_003482.3(KMT2D):c.12780A>G (p.Gln4260=) 555842651 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49425708 49425708 T C 332770 single nucleotide variant NM_003482.3(KMT2D):c.12780A>G (p.Gln4260=) 555842651 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49031925 49031925 T C 332786 single nucleotide variant NM_003482.3(KMT2D):c.11945G>C (p.Arg3982Pro) 760983900 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49426543 49426543 C G 332786 single nucleotide variant NM_003482.3(KMT2D):c.11945G>C (p.Arg3982Pro) 760983900 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49032760 49032760 C G 332790 deletion NM_003482.3(KMT2D):c.11853_11855delGCA (p.Gln3954del) 886049475 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49032850 49032852 TGC - 332790 deletion NM_003482.3(KMT2D):c.11853_11855delGCA (p.Gln3954del) 886049475 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49426633 49426635 TGC - 332791 single nucleotide variant NM_003482.3(KMT2D):c.10741-7A>G 550510739 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49033971 49033971 T C 332791 single nucleotide variant NM_003482.3(KMT2D):c.10741-7A>G 550510739 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49427754 49427754 T C 332792 single nucleotide variant NM_003482.3(KMT2D):c.8901C>G (p.Pro2967=) 767675707 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49038455 49038455 G C 332792 single nucleotide variant NM_003482.3(KMT2D):c.8901C>G (p.Pro2967=) 767675707 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49432238 49432238 G C 332798 single nucleotide variant NM_003482.3(KMT2D):c.8230-14C>T 755201719 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49039372 49039372 G A 332798 single nucleotide variant NM_003482.3(KMT2D):c.8230-14C>T 755201719 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49433155 49433155 G A 332800 single nucleotide variant NM_003482.3(KMT2D):c.7656T>C (p.Pro2552=) 774043426 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49040114 49040114 A G 332800 single nucleotide variant NM_003482.3(KMT2D):c.7656T>C (p.Pro2552=) 774043426 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49433897 49433897 A G 332801 single nucleotide variant NM_003482.3(KMT2D):c.7122C>T (p.Tyr2374=) 765895211 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49434431 49434431 G A 332801 single nucleotide variant NM_003482.3(KMT2D):c.7122C>T (p.Tyr2374=) 765895211 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49040648 49040648 G A 332809 single nucleotide variant NM_003482.3(KMT2D):c.5874C>T (p.Arg1958=) 182887940 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49436107 49436107 G A 332809 single nucleotide variant NM_003482.3(KMT2D):c.5874C>T (p.Arg1958=) 182887940 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49042324 49042324 G A 332814 single nucleotide variant NM_003482.3(KMT2D):c.5648T>C (p.Leu1883Pro) 370219057 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49042875 49042875 A G 332814 single nucleotide variant NM_003482.3(KMT2D):c.5648T>C (p.Leu1883Pro) 370219057 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49436658 49436658 A G 332815 single nucleotide variant NM_003482.3(KMT2D):c.5594C>T (p.Thr1865Ile) 886049481 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49043126 49043126 G A 332815 single nucleotide variant NM_003482.3(KMT2D):c.5594C>T (p.Thr1865Ile) 886049481 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49436909 49436909 G A 332818 single nucleotide variant NM_003482.3(KMT2D):c.5492A>T (p.Asp1831Val) 367762013 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49043404 49043404 T A 332818 single nucleotide variant NM_003482.3(KMT2D):c.5492A>T (p.Asp1831Val) 367762013 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49437187 49437187 T A 332819 single nucleotide variant NM_003482.3(KMT2D):c.3976C>T (p.Arg1326Trp) 886049484 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49442932 49442932 G A 332819 single nucleotide variant NM_003482.3(KMT2D):c.3976C>T (p.Arg1326Trp) 886049484 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49049149 49049149 G A 332820 single nucleotide variant NM_003482.3(KMT2D):c.3298G>C (p.Asp1100His) 745673119 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49050290 49050290 C G 332820 single nucleotide variant NM_003482.3(KMT2D):c.3298G>C (p.Asp1100His) 745673119 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49444073 49444073 C G 332834 single nucleotide variant NM_003482.3(KMT2D):c.3181G>T (p.Val1061Leu) 200450910 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49050407 49050407 C A 332834 single nucleotide variant NM_003482.3(KMT2D):c.3181G>T (p.Val1061Leu) 200450910 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49444190 49444190 C A 332837 single nucleotide variant NM_003482.3(KMT2D):c.2798-8C>G 867926537 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49050798 49050798 G C 332837 single nucleotide variant NM_003482.3(KMT2D):c.2798-8C>G 867926537 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49444581 49444581 G C 332838 single nucleotide variant NM_003482.3(KMT2D):c.2220G>T (p.Gly740=) 368986210 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49051463 49051463 C A 332838 single nucleotide variant NM_003482.3(KMT2D):c.2220G>T (p.Gly740=) 368986210 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49445246 49445246 C A 332841 single nucleotide variant NM_003482.3(KMT2D):c.682C>G (p.Arg228Gly) 201994402 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49053633 49053633 G C 332841 single nucleotide variant NM_003482.3(KMT2D):c.682C>G (p.Arg228Gly) 201994402 MedGen:C0796004,Orphanet:ORPHA2322,SNOMED CT:C0796004 12 49447416 49447416 G C 353905 single nucleotide variant NM_003482.3(KMT2D):c.14075+1G>A 1057516039 MedGen:CN030661,OMIM:147920 12 49423183 49423183 C T 353905 single nucleotide variant NM_003482.3(KMT2D):c.14075+1G>A 1057516039 MedGen:CN030661,OMIM:147920 12 49029400 49029400 C T 354172 single nucleotide variant NM_003482.3(KMT2D):c.7249T>G (p.Ser2417Ala) 1057516188 MedGen:CN030661,OMIM:147920 12 49434304 49434304 A C 354172 single nucleotide variant NM_003482.3(KMT2D):c.7249T>G (p.Ser2417Ala) 1057516188 MedGen:CN030661,OMIM:147920 12 49040521 49040521 A C 359952 single nucleotide variant NM_003482.3(KMT2D):c.12844C>T (p.Arg4282Ter) 1057517992 MedGen:CN221809 12 49031861 49031861 G A 359952 single nucleotide variant NM_003482.3(KMT2D):c.12844C>T (p.Arg4282Ter) 1057517992 MedGen:CN221809 12 49425644 49425644 G A 359965 single nucleotide variant NM_003482.3(KMT2D):c.8366+1G>A 1057518149 MedGen:CN221809 12 49039221 49039221 C T 359965 single nucleotide variant NM_003482.3(KMT2D):c.8366+1G>A 1057518149 MedGen:CN221809 12 49433004 49433004 C T 359967 single nucleotide variant NM_003482.3(KMT2D):c.7411C>T (p.Arg2471Ter) 1057518571 MedGen:CN221809 12 49040359 49040359 G A 359967 single nucleotide variant NM_003482.3(KMT2D):c.7411C>T (p.Arg2471Ter) 1057518571 MedGen:CN221809 12 49434142 49434142 G A 360117 deletion NM_003482.3(KMT2D):c.8696delG (p.Gly2899Alafs) 1057518186 MedGen:CN221809 12 49038660 49038660 C - 360117 deletion NM_003482.3(KMT2D):c.8696delG (p.Gly2899Alafs) 1057518186 MedGen:CN221809 12 49432443 49432443 C - 360947 single nucleotide variant NM_003482.3(KMT2D):c.10882C>G (p.Leu3628Val) 773395827 MedGen:CN221809 12 49033823 49033823 G C 360947 single nucleotide variant NM_003482.3(KMT2D):c.10882C>G (p.Leu3628Val) 773395827 MedGen:CN221809 12 49427606 49427606 G C 361205 single nucleotide variant NM_003482.3(KMT2D):c.2389C>G (p.Leu797Val) 1057518680 MedGen:CN030661,OMIM:147920 12 49445077 49445077 G C 361205 single nucleotide variant NM_003482.3(KMT2D):c.2389C>G (p.Leu797Val) 1057518680 MedGen:CN030661,OMIM:147920 12 49051294 49051294 G C 361970 deletion NM_003482.3(KMT2D):c.11475_11478delACAG (p.Gln3826Cysfs) -1 MedGen:CN030661,OMIM:147920 12 49427010 49427013 na na 361970 deletion NM_003482.3(KMT2D):c.11475_11478delACAG (p.Gln3826Cysfs) -1 MedGen:CN030661,OMIM:147920 12 49033227 49033230 CTGT -

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 12 49416944 rs10875912 T C rs10875912 7.14E-06 Major depressive disorder HPOID:0000716 DOID:1470 T intron GWASdb_trait 12 49419677 rs11168827 G C rs11168827 8.75E-06 Major depressive disorder HPOID:0000716 DOID:1470 G intron GWASdb_trait 12 49422094 rs10875914 A G rs10875914 1.40E-06 Major depressive disorder HPOID:0000716 DOID:1470 G intron GWASdb_trait 12 49424534 rs11168830 G A rs11168830 7.86E-05 Hepatocellular carcinoma HPOID:0001402 DOID:684 G cds-synon GWASdb_trait 12 49424616 rs11614738 G A rs11614738 5.05E-06 Major depressive disorder HPOID:0000716 DOID:1470 G intron GWASdb_trait 12 49436724 rs12580349 A G rs12580349 2.81E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 12 49436724 rs12580349 A G rs12580349 2.70E-05 Urinary metabolites HPOID:0000079 DOID:557 A intron GWASdb_trait 12 49436724 rs12580349 A G rs12580349 4.44E-06 Major depressive disorder HPOID:0000716 DOID:1470 A intron GWASdb_trait 12 49442813 rs2304275 T C rs2304275 1.78E-04 Major depressive disorder HPOID:0000716 DOID:1470 A intron GWASdb_trait 12 49444545 rs2241726 G A rs2241726 3.71E-06 Major depressive disorder HPOID:0000716 DOID:1470 T cds-synon GWASdb_trait 19 36224973 rs17776911 T C rs17776911 4.82E-04 Smoking initiation HPOID:0000707 DOID:0050742 T intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000167548.14 KMT2D 602113