Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 94454 single nucleotide variant NM_170606.2(KMT2C):c.4441C>T (p.Arg1481Ter) 587777073 MedGen:C0795833,OMIM:610253,Orphanet:ORPHA261494 7 151891591 151891591 G A 94454 single nucleotide variant NM_170606.2(KMT2C):c.4441C>T (p.Arg1481Ter) 587777073 MedGen:C0795833,OMIM:610253,Orphanet:ORPHA261494 7 152194506 152194506 G A 138474 deletion NM_170606.2(KMT2C):c.1424_1426delATC (p.His475del) 587778488 MedGen:CN169374 7 151949674 151949676 GAT - 138474 deletion NM_170606.2(KMT2C):c.1424_1426delATC (p.His475del) 587778488 MedGen:CN169374 7 152252589 152252591 GAT - 138475 single nucleotide variant NM_170606.2(KMT2C):c.1365A>G (p.Ile455Met) 77652527 MedGen:CN169374 7 151949735 151949735 T C 138475 single nucleotide variant NM_170606.2(KMT2C):c.1365A>G (p.Ile455Met) 77652527 MedGen:CN169374 7 152252650 152252650 T C 138476 single nucleotide variant NM_170606.2(KMT2C):c.1402C>A (p.Pro468Thr) 140919432 MedGen:CN169374 7 151949698 151949698 G T 138476 single nucleotide variant NM_170606.2(KMT2C):c.1402C>A (p.Pro468Thr) 140919432 MedGen:CN169374 7 152252613 152252613 G T 138477 single nucleotide variant NM_170606.2(KMT2C):c.1344G>T (p.Gln448His) 149250254 MedGen:CN169374 7 151949756 151949756 C A 138477 single nucleotide variant NM_170606.2(KMT2C):c.1344G>T (p.Gln448His) 149250254 MedGen:CN169374 7 152252671 152252671 C A 138478 single nucleotide variant NM_170606.2(KMT2C):c.1577G>A (p.Arg526His) 3735156 MedGen:CN169374 7 151949068 151949068 C T 138478 single nucleotide variant NM_170606.2(KMT2C):c.1577G>A (p.Arg526His) 3735156 MedGen:CN169374 7 152251983 152251983 C T 138479 single nucleotide variant NM_170606.2(KMT2C):c.1577G>C (p.Arg526Pro) 3735156 MedGen:CN169374 7 151949068 151949068 C G 138479 single nucleotide variant NM_170606.2(KMT2C):c.1577G>C (p.Arg526Pro) 3735156 MedGen:CN169374 7 152251983 152251983 C G 138480 single nucleotide variant NM_170606.2(KMT2C):c.1700A>G (p.Asn567Ser) 12674022 MedGen:CN169374 7 151947973 151947973 T C 138480 single nucleotide variant NM_170606.2(KMT2C):c.1700A>G (p.Asn567Ser) 12674022 MedGen:CN169374 7 152250888 152250888 T C 138481 single nucleotide variant NM_170606.2(KMT2C):c.1645G>A (p.Glu549Lys) 587778489 MedGen:CN169374 7 151948028 151948028 C T 138481 single nucleotide variant NM_170606.2(KMT2C):c.1645G>A (p.Glu549Lys) 587778489 MedGen:CN169374 7 152250943 152250943 C T 138482 single nucleotide variant NM_170606.2(KMT2C):c.1795G>T (p.Asp599Tyr) 141579002 MedGen:CN169374 7 151946979 151946979 C A 138482 single nucleotide variant NM_170606.2(KMT2C):c.1795G>T (p.Asp599Tyr) 141579002 MedGen:CN169374 7 152249894 152249894 C A 138483 single nucleotide variant NM_170606.2(KMT2C):c.181A>G (p.Thr61Ala) 111826855 MedGen:CN169374 7 152055741 152055741 T C 138483 single nucleotide variant NM_170606.2(KMT2C):c.181A>G (p.Thr61Ala) 111826855 MedGen:CN169374 7 152358656 152358656 T C 138484 single nucleotide variant NM_170606.2(KMT2C):c.3275G>A (p.Arg1092Gln) 150747860 MedGen:CN169374 7 151921148 151921148 C T 138484 single nucleotide variant NM_170606.2(KMT2C):c.3275G>A (p.Arg1092Gln) 150747860 MedGen:CN169374 7 152224063 152224063 C T 138485 single nucleotide variant NM_170606.2(KMT2C):c.3487G>C (p.Val1163Leu) 142546291 MedGen:CN169374 7 151919098 151919098 C G 138485 single nucleotide variant NM_170606.2(KMT2C):c.3487G>C (p.Val1163Leu) 142546291 MedGen:CN169374 7 152222013 152222013 C G 138486 single nucleotide variant NM_170606.2(KMT2C):c.3955G>C (p.Asp1319His) 138119145 MedGen:CN169374 7 151902197 151902197 C G 138486 single nucleotide variant NM_170606.2(KMT2C):c.3955G>C (p.Asp1319His) 138119145 MedGen:CN169374 7 152205112 152205112 C G 138487 single nucleotide variant NM_170606.2(KMT2C):c.4154A>G (p.Asn1385Ser) 61730535 MedGen:CN169374 7 151896483 151896483 T C 138487 single nucleotide variant NM_170606.2(KMT2C):c.4154A>G (p.Asn1385Ser) 61730535 MedGen:CN169374 7 152199398 152199398 T C 138488 single nucleotide variant NM_170606.2(KMT2C):c.4442G>A (p.Arg1481Gln) 587778490 MedGen:CN169374 7 151891590 151891590 C T 138488 single nucleotide variant NM_170606.2(KMT2C):c.4442G>A (p.Arg1481Gln) 587778490 MedGen:CN169374 7 152194505 152194505 C T 138489 single nucleotide variant NM_170606.2(KMT2C):c.4592C>T (p.Ala1531Val) 587778491 MedGen:CN169374 7 151891162 151891162 G A 138489 single nucleotide variant NM_170606.2(KMT2C):c.4592C>T (p.Ala1531Val) 587778491 MedGen:CN169374 7 152194077 152194077 G A 138490 single nucleotide variant NM_170606.2(KMT2C):c.5171G>T (p.Ser1724Ile) 138819584 MedGen:CN169374 7 151880153 151880153 C A 138490 single nucleotide variant NM_170606.2(KMT2C):c.5171G>T (p.Ser1724Ile) 138819584 MedGen:CN169374 7 152183068 152183068 C A 138491 insertion NM_170606.2(KMT2C):c.5357_5358insACA (p.Gln1787_Phe1788insGln) 587778492 MedGen:CN169374 7 151879587 151879588 - TGT 138491 insertion NM_170606.2(KMT2C):c.5357_5358insACA (p.Gln1787_Phe1788insGln) 587778492 MedGen:CN169374 7 152182502 152182503 - TGT 138492 single nucleotide variant NM_170606.2(KMT2C):c.5903A>G (p.Asp1968Gly) 587778493 MedGen:CN169374 7 151879042 151879042 T C 138492 single nucleotide variant NM_170606.2(KMT2C):c.5903A>G (p.Asp1968Gly) 587778493 MedGen:CN169374 7 152181957 152181957 T C 138493 single nucleotide variant NM_170606.2(KMT2C):c.6022A>G (p.Thr2008Ala) 6951159 MedGen:CN169374 7 151878923 151878923 T C 138493 single nucleotide variant NM_170606.2(KMT2C):c.6022A>G (p.Thr2008Ala) 6951159 MedGen:CN169374 7 152181838 152181838 T C 138494 single nucleotide variant NM_170606.2(KMT2C):c.6275A>T (p.Asp2092Val) 140719911 MedGen:CN169374 7 151878670 151878670 T A 138494 single nucleotide variant NM_170606.2(KMT2C):c.6275A>T (p.Asp2092Val) 140719911 MedGen:CN169374 7 152181585 152181585 T A 138495 single nucleotide variant NM_170606.2(KMT2C):c.6896A>G (p.Tyr2299Cys) 587778494 MedGen:CN169374 7 151878049 151878049 T C 138495 single nucleotide variant NM_170606.2(KMT2C):c.6896A>G (p.Tyr2299Cys) 587778494 MedGen:CN169374 7 152180964 152180964 T C 138496 single nucleotide variant NM_170606.2(KMT2C):c.5587C>G (p.Pro1863Ala) 142070663 MedGen:CN169374 7 151879358 151879358 G C 138496 single nucleotide variant NM_170606.2(KMT2C):c.5587C>G (p.Pro1863Ala) 142070663 MedGen:CN169374 7 152182273 152182273 G C 138497 single nucleotide variant NM_170606.2(KMT2C):c.5792C>T (p.Ser1931Leu) 200297010 MedGen:CN169374 7 151879153 151879153 G A 138497 single nucleotide variant NM_170606.2(KMT2C):c.5792C>T (p.Ser1931Leu) 200297010 MedGen:CN169374 7 152182068 152182068 G A 138498 single nucleotide variant NM_170606.2(KMT2C):c.5809C>G (p.Gln1937Glu) 374061571 MedGen:CN169374 7 151879136 151879136 G C 138498 single nucleotide variant NM_170606.2(KMT2C):c.5809C>G (p.Gln1937Glu) 374061571 MedGen:CN169374 7 152182051 152182051 G C 138499 single nucleotide variant NM_170606.2(KMT2C):c.5861C>G (p.Ser1954Cys) 563948892 MedGen:CN169374 7 151879084 151879084 G C 138499 single nucleotide variant NM_170606.2(KMT2C):c.5861C>G (p.Ser1954Cys) 563948892 MedGen:CN169374 7 152181999 152181999 G C 138500 single nucleotide variant NM_170606.2(KMT2C):c.6008C>T (p.Thr2003Ile) 587778495 MedGen:CN169374 7 151878937 151878937 G A 138500 single nucleotide variant NM_170606.2(KMT2C):c.6008C>T (p.Thr2003Ile) 587778495 MedGen:CN169374 7 152181852 152181852 G A 138501 single nucleotide variant NM_170606.2(KMT2C):c.6461C>G (p.Ser2154Cys) 587778496 MedGen:CN169374 7 151878484 151878484 G C 138501 single nucleotide variant NM_170606.2(KMT2C):c.6461C>G (p.Ser2154Cys) 587778496 MedGen:CN169374 7 152181399 152181399 G C 138502 single nucleotide variant NM_170606.2(KMT2C):c.6634C>G (p.Pro2212Ala) 587778497 MedGen:CN169374 7 151878311 151878311 G C 138502 single nucleotide variant NM_170606.2(KMT2C):c.6634C>G (p.Pro2212Ala) 587778497 MedGen:CN169374 7 152181226 152181226 G C 138503 single nucleotide variant NM_170606.2(KMT2C):c.6197G>A (p.Arg2066Gln) 587778498 MedGen:CN169374 7 151878748 151878748 C T 138503 single nucleotide variant NM_170606.2(KMT2C):c.6197G>A (p.Arg2066Gln) 587778498 MedGen:CN169374 7 152181663 152181663 C T 138504 single nucleotide variant NM_170606.2(KMT2C):c.6667G>A (p.Ala2223Thr) 140432708 MedGen:CN169374 7 151878278 151878278 C T 138504 single nucleotide variant NM_170606.2(KMT2C):c.6667G>A (p.Ala2223Thr) 140432708 MedGen:CN169374 7 152181193 152181193 C T 138505 single nucleotide variant NM_170606.2(KMT2C):c.6073T>A (p.Ser2025Thr) 141338021 MedGen:CN169374 7 151878872 151878872 A T 138505 single nucleotide variant NM_170606.2(KMT2C):c.6073T>A (p.Ser2025Thr) 141338021 MedGen:CN169374 7 152181787 152181787 A T 138506 single nucleotide variant NM_170606.2(KMT2C):c.6965T>C (p.Val2322Ala) 373237480 MedGen:CN169374 7 151877980 151877980 A G 138506 single nucleotide variant NM_170606.2(KMT2C):c.6965T>C (p.Val2322Ala) 373237480 MedGen:CN169374 7 152180895 152180895 A G 138507 single nucleotide variant NM_170606.2(KMT2C):c.7234C>A (p.Pro2412Thr) 13231116 MedGen:CN169374 7 151877127 151877127 G T 138507 single nucleotide variant NM_170606.2(KMT2C):c.7234C>A (p.Pro2412Thr) 13231116 MedGen:CN169374 7 152180042 152180042 G T 138508 single nucleotide variant NM_170606.2(KMT2C):c.7259T>G (p.Leu2420Arg) 200810583 MedGen:CN169374 7 151877102 151877102 A C 138508 single nucleotide variant NM_170606.2(KMT2C):c.7259T>G (p.Leu2420Arg) 200810583 MedGen:CN169374 7 152180017 152180017 A C 138509 single nucleotide variant NM_170606.2(KMT2C):c.8449A>G (p.Thr2817Ala) 587778499 MedGen:CN169374 7 151874089 151874089 T C 138509 single nucleotide variant NM_170606.2(KMT2C):c.8449A>G (p.Thr2817Ala) 587778499 MedGen:CN169374 7 152177004 152177004 T C 138510 single nucleotide variant NM_170606.2(KMT2C):c.8459A>G (p.Asn2820Ser) 587778500 MedGen:CN169374 7 151874079 151874079 T C 138510 single nucleotide variant NM_170606.2(KMT2C):c.8459A>G (p.Asn2820Ser) 587778500 MedGen:CN169374 7 152176994 152176994 T C 138511 single nucleotide variant NM_170606.2(KMT2C):c.8488A>C (p.Asn2830His) 147851738 MedGen:CN169374 7 151874050 151874050 T G 138511 single nucleotide variant NM_170606.2(KMT2C):c.8488A>C (p.Asn2830His) 147851738 MedGen:CN169374 7 152176965 152176965 T G 138512 single nucleotide variant NM_170606.2(KMT2C):c.8502A>T (p.Glu2834Asp) 138845109 MedGen:CN169374 7 151874036 151874036 T A 138512 single nucleotide variant NM_170606.2(KMT2C):c.8502A>T (p.Glu2834Asp) 138845109 MedGen:CN169374 7 152176951 152176951 T A 138513 single nucleotide variant NM_170606.2(KMT2C):c.8507A>G (p.Lys2836Arg) 142267328 MedGen:CN169374 7 151874031 151874031 T C 138513 single nucleotide variant NM_170606.2(KMT2C):c.8507A>G (p.Lys2836Arg) 142267328 MedGen:CN169374 7 152176946 152176946 T C 138514 single nucleotide variant NM_170606.2(KMT2C):c.7846C>T (p.Pro2616Ser) 142938767 MedGen:CN169374 7 151874692 151874692 G A 138514 single nucleotide variant NM_170606.2(KMT2C):c.7846C>T (p.Pro2616Ser) 142938767 MedGen:CN169374 7 152177607 152177607 G A 138515 single nucleotide variant NM_170606.2(KMT2C):c.7957C>G (p.Leu2653Val) 149373512 MedGen:CN169374 7 151874581 151874581 G C 138515 single nucleotide variant NM_170606.2(KMT2C):c.7957C>G (p.Leu2653Val) 149373512 MedGen:CN169374 7 152177496 152177496 G C 138516 single nucleotide variant NM_170606.2(KMT2C):c.8552C>G (p.Thr2851Ser) 151261105 MedGen:CN169374 7 151873986 151873986 G C 138516 single nucleotide variant NM_170606.2(KMT2C):c.8552C>G (p.Thr2851Ser) 151261105 MedGen:CN169374 7 152176901 152176901 G C 138517 single nucleotide variant NM_170606.2(KMT2C):c.9245C>T (p.Pro3082Leu) 61730545 MedGen:CN169374 7 151873293 151873293 G A 138517 single nucleotide variant NM_170606.2(KMT2C):c.9245C>T (p.Pro3082Leu) 61730545 MedGen:CN169374 7 152176208 152176208 G A 138518 single nucleotide variant NM_170606.2(KMT2C):c.7829G>A (p.Arg2610Gln) 139770288 MedGen:CN169374 7 151874709 151874709 C T 138518 single nucleotide variant NM_170606.2(KMT2C):c.7829G>A (p.Arg2610Gln) 139770288 MedGen:CN169374 7 152177624 152177624 C T 138519 single nucleotide variant NM_170606.2(KMT2C):c.9071G>C (p.Ser3024Thr) 587778501 MedGen:CN169374 7 151873467 151873467 C G 138519 single nucleotide variant NM_170606.2(KMT2C):c.9071G>C (p.Ser3024Thr) 587778501 MedGen:CN169374 7 152176382 152176382 C G 138520 single nucleotide variant NM_170606.2(KMT2C):c.7958T>C (p.Leu2653Pro) 61730547 MedGen:CN169374 7 151874580 151874580 A G 138520 single nucleotide variant NM_170606.2(KMT2C):c.7958T>C (p.Leu2653Pro) 61730547 MedGen:CN169374 7 152177495 152177495 A G 138521 single nucleotide variant NM_170606.2(KMT2C):c.9425A>G (p.Gln3142Arg) 587778502 MedGen:CN169374 7 151868377 151868377 T C 138521 single nucleotide variant NM_170606.2(KMT2C):c.9425A>G (p.Gln3142Arg) 587778502 MedGen:CN169374 7 152171292 152171292 T C 138522 single nucleotide variant NM_170606.2(KMT2C):c.10163A>G (p.Asn3388Ser) 200302468 MedGen:CN169374 7 151860499 151860499 T C 138522 single nucleotide variant NM_170606.2(KMT2C):c.10163A>G (p.Asn3388Ser) 200302468 MedGen:CN169374 7 152163414 152163414 T C 138523 single nucleotide variant NM_170606.2(KMT2C):c.10513A>G (p.Asn3505Asp) 140626076 MedGen:CN169374 7 151860149 151860149 T C 138523 single nucleotide variant NM_170606.2(KMT2C):c.10513A>G (p.Asn3505Asp) 140626076 MedGen:CN169374 7 152163064 152163064 T C 138524 single nucleotide variant NM_170606.2(KMT2C):c.10723A>G (p.Thr3575Ala) 142997680 MedGen:CN169374 7 151859939 151859939 T C 138524 single nucleotide variant NM_170606.2(KMT2C):c.10723A>G (p.Thr3575Ala) 142997680 MedGen:CN169374 7 152162854 152162854 T C 138525 single nucleotide variant NM_170606.2(KMT2C):c.11173A>C (p.Thr3725Pro) 143269206 MedGen:CN169374 7 151859489 151859489 T G 138525 single nucleotide variant NM_170606.2(KMT2C):c.11173A>C (p.Thr3725Pro) 143269206 MedGen:CN169374 7 152162404 152162404 T G 138526 single nucleotide variant NM_170606.2(KMT2C):c.10403C>T (p.Pro3468Leu) 565114967 MedGen:CN169374 7 151860259 151860259 G A 138526 single nucleotide variant NM_170606.2(KMT2C):c.10403C>T (p.Pro3468Leu) 565114967 MedGen:CN169374 7 152163174 152163174 G A 138527 single nucleotide variant NM_170606.2(KMT2C):c.10432C>G (p.Gln3478Glu) 142835638 MedGen:CN169374 7 151860230 151860230 G C 138527 single nucleotide variant NM_170606.2(KMT2C):c.10432C>G (p.Gln3478Glu) 142835638 MedGen:CN169374 7 152163145 152163145 G C 138528 single nucleotide variant NM_170606.2(KMT2C):c.10763C>T (p.Ser3588Leu) 148585727 MedGen:CN169374 7 151859899 151859899 G A 138528 single nucleotide variant NM_170606.2(KMT2C):c.10763C>T (p.Ser3588Leu) 148585727 MedGen:CN169374 7 152162814 152162814 G A 138529 single nucleotide variant NM_170606.2(KMT2C):c.10894C>T (p.Pro3632Ser) 587778503 MedGen:CN169374 7 151859768 151859768 G A 138529 single nucleotide variant NM_170606.2(KMT2C):c.10894C>T (p.Pro3632Ser) 587778503 MedGen:CN169374 7 152162683 152162683 G A 138530 single nucleotide variant NM_170606.2(KMT2C):c.10928C>T (p.Thr3643Ile) 587778504 MedGen:CN169374 7 151859734 151859734 G A 138530 single nucleotide variant NM_170606.2(KMT2C):c.10928C>T (p.Thr3643Ile) 587778504 MedGen:CN169374 7 152162649 152162649 G A 138531 single nucleotide variant NM_170606.2(KMT2C):c.10979C>T (p.Ser3660Leu) 74483926 MedGen:CN169374 7 151859683 151859683 G A 138531 single nucleotide variant NM_170606.2(KMT2C):c.10979C>T (p.Ser3660Leu) 74483926 MedGen:CN169374 7 152162598 152162598 G A 138532 single nucleotide variant NM_170606.2(KMT2C):c.11374C>A (p.Gln3792Lys) 75191113 MedGen:CN169374 7 151859288 151859288 G T 138532 single nucleotide variant NM_170606.2(KMT2C):c.11374C>A (p.Gln3792Lys) 75191113 MedGen:CN169374 7 152162203 152162203 G T 138533 single nucleotide variant NM_170606.2(KMT2C):c.9931C>T (p.Leu3311Phe) 139610952 MedGen:CN169374 7 151860731 151860731 G A 138533 single nucleotide variant NM_170606.2(KMT2C):c.9931C>T (p.Leu3311Phe) 139610952 MedGen:CN169374 7 152163646 152163646 G A 138534 single nucleotide variant NM_170606.2(KMT2C):c.9989C>G (p.Pro3330Arg) 545625106 MedGen:CN169374 7 151860673 151860673 G C 138534 single nucleotide variant NM_170606.2(KMT2C):c.9989C>G (p.Pro3330Arg) 545625106 MedGen:CN169374 7 152163588 152163588 G C 138535 single nucleotide variant NM_170606.2(KMT2C):c.10024G>T (p.Ala3342Ser) 144376311 MedGen:CN169374 7 151860638 151860638 C A 138535 single nucleotide variant NM_170606.2(KMT2C):c.10024G>T (p.Ala3342Ser) 144376311 MedGen:CN169374 7 152163553 152163553 C A 138536 single nucleotide variant NM_170606.2(KMT2C):c.10444G>A (p.Val3482Ile) 587778505 MedGen:CN169374 7 151860218 151860218 C T 138536 single nucleotide variant NM_170606.2(KMT2C):c.10444G>A (p.Val3482Ile) 587778505 MedGen:CN169374 7 152163133 152163133 C T 138537 single nucleotide variant NM_170606.2(KMT2C):c.11149G>C (p.Glu3717Gln) 587778506 MedGen:CN169374 7 151859513 151859513 C G 138537 single nucleotide variant NM_170606.2(KMT2C):c.11149G>C (p.Glu3717Gln) 587778506 MedGen:CN169374 7 152162428 152162428 C G 138538 single nucleotide variant NM_170606.2(KMT2C):c.11167G>C (p.Ala3723Pro) 115580901 MedGen:CN169374 7 151859495 151859495 C G 138538 single nucleotide variant NM_170606.2(KMT2C):c.11167G>C (p.Ala3723Pro) 115580901 MedGen:CN169374 7 152162410 152162410 C G 138539 single nucleotide variant NM_170606.2(KMT2C):c.11242G>A (p.Ala3748Thr) 148366561 MedGen:CN169374 7 151859420 151859420 C T 138539 single nucleotide variant NM_170606.2(KMT2C):c.11242G>A (p.Ala3748Thr) 148366561 MedGen:CN169374 7 152162335 152162335 C T 138540 single nucleotide variant NM_170606.2(KMT2C):c.9974G>T (p.Ser3325Ile) 202148187 MedGen:CN169374 7 151860688 151860688 C A 138540 single nucleotide variant NM_170606.2(KMT2C):c.9974G>T (p.Ser3325Ile) 202148187 MedGen:CN169374 7 152163603 152163603 C A 138541 single nucleotide variant NM_170606.2(KMT2C):c.10639T>C (p.Ser3547Pro) 78004519 MedGen:CN169374 7 151860023 151860023 A G 138541 single nucleotide variant NM_170606.2(KMT2C):c.10639T>C (p.Ser3547Pro) 78004519 MedGen:CN169374 7 152162938 152162938 A G 138542 single nucleotide variant NM_170606.2(KMT2C):c.11570C>T (p.Thr3857Met) 577099359 MedGen:CN169374 7 151856048 151856048 G A 138542 single nucleotide variant NM_170606.2(KMT2C):c.11570C>T (p.Thr3857Met) 577099359 MedGen:CN169374 7 152158963 152158963 G A 138543 single nucleotide variant NM_170606.2(KMT2C):c.11528G>C (p.Gly3843Ala) 201952980 MedGen:CN169374 7 151856090 151856090 C G 138543 single nucleotide variant NM_170606.2(KMT2C):c.11528G>C (p.Gly3843Ala) 201952980 MedGen:CN169374 7 152159005 152159005 C G 138544 single nucleotide variant NM_170606.2(KMT2C):c.11581G>A (p.Ala3861Thr) 147946863 MedGen:CN169374 7 151856037 151856037 C T 138544 single nucleotide variant NM_170606.2(KMT2C):c.11581G>A (p.Ala3861Thr) 147946863 MedGen:CN169374 7 152158952 152158952 C T 138545 single nucleotide variant NM_170606.2(KMT2C):c.11614G>A (p.Glu3872Lys) 201674711 MedGen:CN169374 7 151856004 151856004 C T 138545 single nucleotide variant NM_170606.2(KMT2C):c.11614G>A (p.Glu3872Lys) 201674711 MedGen:CN169374 7 152158919 152158919 C T 138546 single nucleotide variant NM_170606.2(KMT2C):c.11493T>G (p.Phe3831Leu) 587778507 MedGen:CN169374 7 151856125 151856125 A C 138546 single nucleotide variant NM_170606.2(KMT2C):c.11493T>G (p.Phe3831Leu) 587778507 MedGen:CN169374 7 152159040 152159040 A C 138547 single nucleotide variant NM_170606.2(KMT2C):c.11942A>C (p.Asn3981Thr) 587778508 MedGen:CN169374 7 151853013 151853013 T G 138547 single nucleotide variant NM_170606.2(KMT2C):c.11942A>C (p.Asn3981Thr) 587778508 MedGen:CN169374 7 152155928 152155928 T G 138548 single nucleotide variant NM_170606.2(KMT2C):c.12370A>G (p.Met4124Val) 587778509 MedGen:CN169374 7 151849946 151849946 T C 138548 single nucleotide variant NM_170606.2(KMT2C):c.12370A>G (p.Met4124Val) 587778509 MedGen:CN169374 7 152152861 152152861 T C 138549 single nucleotide variant NM_170606.2(KMT2C):c.709A>G (p.Ile237Val) 587778510 MedGen:CN169374 7 152008913 152008913 T C 138549 single nucleotide variant NM_170606.2(KMT2C):c.709A>G (p.Ile237Val) 587778510 MedGen:CN169374 7 152311828 152311828 T C 138550 single nucleotide variant NM_170606.2(KMT2C):c.12655C>G (p.Leu4219Val) 139111507 MedGen:CN169374 7 151848538 151848538 G C 138550 single nucleotide variant NM_170606.2(KMT2C):c.12655C>G (p.Leu4219Val) 139111507 MedGen:CN169374 7 152151453 152151453 G C 138551 single nucleotide variant NM_170606.2(KMT2C):c.12755C>T (p.Ala4252Val) 537579296 MedGen:CN169374 7 151848004 151848004 G A 138551 single nucleotide variant NM_170606.2(KMT2C):c.12755C>T (p.Ala4252Val) 537579296 MedGen:CN169374 7 152150919 152150919 G A 138552 single nucleotide variant NM_170606.2(KMT2C):c.12964C>T (p.Pro4322Ser) 587778511 MedGen:CN169374 7 151846048 151846048 G A 138552 single nucleotide variant NM_170606.2(KMT2C):c.12964C>T (p.Pro4322Ser) 587778511 MedGen:CN169374 7 152148963 152148963 G A 138553 single nucleotide variant NM_170606.2(KMT2C):c.13246C>T (p.Pro4416Ser) 201443050 MedGen:CN169374 7 151845766 151845766 G A 138553 single nucleotide variant NM_170606.2(KMT2C):c.13246C>T (p.Pro4416Ser) 201443050 MedGen:CN169374 7 152148681 152148681 G A 138554 single nucleotide variant NM_170606.2(KMT2C):c.13522C>T (p.Pro4508Ser) 182572555 MedGen:CN169374 7 151845490 151845490 G A 138554 single nucleotide variant NM_170606.2(KMT2C):c.13522C>T (p.Pro4508Ser) 182572555 MedGen:CN169374 7 152148405 152148405 G A 138555 single nucleotide variant NM_170606.2(KMT2C):c.13967C>A (p.Ala4656Glu) 587778512 MedGen:CN169374 7 151843748 151843748 G T 138555 single nucleotide variant NM_170606.2(KMT2C):c.13967C>A (p.Ala4656Glu) 587778512 MedGen:CN169374 7 152146663 152146663 G T 138556 single nucleotide variant NM_170606.2(KMT2C):c.14017C>T (p.Arg4673Cys) 370620314 MedGen:CN169374 7 151843698 151843698 G A 138556 single nucleotide variant NM_170606.2(KMT2C):c.14017C>T (p.Arg4673Cys) 370620314 MedGen:CN169374 7 152146613 152146613 G A 138557 single nucleotide variant NM_170606.2(KMT2C):c.14107G>A (p.Val4703Ile) 369684496 MedGen:CN169374 7 151842305 151842305 C T 138557 single nucleotide variant NM_170606.2(KMT2C):c.14107G>A (p.Val4703Ile) 369684496 MedGen:CN169374 7 152145220 152145220 C T 161845 copy number gain GRCh38/hg38 7q36.1(chr7:152134952-152295367)x3 -1 - 7 151832037 151992452 na na 161845 copy number gain GRCh38/hg38 7q36.1(chr7:152134952-152295367)x3 -1 - 7 152134952 152295367 na na 161845 copy number gain GRCh38/hg38 7q36.1(chr7:152134952-152295367)x3 -1 - 7 151462970 151623385 na na 215356 single nucleotide variant NM_170606.2(KMT2C):c.2532+6G>T 3888468 MedGen:CN169374 7 151944981 151944981 C A 215356 single nucleotide variant NM_170606.2(KMT2C):c.2532+6G>T 3888468 MedGen:CN169374 7 152247896 152247896 C A 215357 single nucleotide variant NM_170606.2(KMT2C):c.2016A>T (p.Glu672Asp) 114419085 MedGen:CN169374 7 152248418 152248418 T A 215357 single nucleotide variant NM_170606.2(KMT2C):c.2016A>T (p.Glu672Asp) 114419085 MedGen:CN169374 7 151945503 151945503 T A 264317 duplication NM_170606.2(KMT2C):c.5409_5413dupTAGTG (p.Gly1805Valfs) 886041682 MedGen:CN221809 7 151879532 151879532 CACTA CACTACACTA 264317 duplication NM_170606.2(KMT2C):c.5409_5413dupTAGTG (p.Gly1805Valfs) 886041682 MedGen:CN221809 7 152182447 152182451 CACTA CACTACACTA 359659 single nucleotide variant NM_170606.2(KMT2C):c.10216G>A (p.Glu3406Lys) 1057518278 MedGen:CN169374 7 152163361 152163361 C T 359659 single nucleotide variant NM_170606.2(KMT2C):c.10216G>A (p.Glu3406Lys) 1057518278 MedGen:CN169374 7 151860446 151860446 C T 359817 single nucleotide variant NM_170606.2(KMT2C):c.14344-1G>A 1057518093 MedGen:CN221809 7 152139792 152139792 C T 359817 single nucleotide variant NM_170606.2(KMT2C):c.14344-1G>A 1057518093 MedGen:CN221809 7 151836877 151836877 C T

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 7 151874581 rs149373512 G C rs149373512 0.00089 Prostate cancer HPOID:0012125 DOID:10283 G missense GWASdb_trait 7 152051190 rs7781309 T C rs7781309 7.90E-06 Vitamin D concentrations HPOID:0100511 DOID:0050718|DOID:0080001 T,C intron GWASdb_trait 7 152051190 rs7781309 T C rs7781309 7.90E-06 Vitamin D concentrations HPOID:0100511 DOID:0050718|DOID:0080001 T,C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000055609.17 KMT2C 606833