| Disease associated variation - ClinVar |
| Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate |
|---|
| 361775 | deletion | NM_014727.2(KMT2B):c.6406delC (p.Leu2136Serfs) | -1 | MedGen:CN239941,OMIM:617284 | 19 | 35732955 | 35732955 | C | - |
| 361775 | deletion | NM_014727.2(KMT2B):c.6406delC (p.Leu2136Serfs) | -1 | MedGen:CN239941,OMIM:617284 | 19 | 36223856 | 36223856 | C | - |
| 361776 | single nucleotide variant | NM_014727.2(KMT2B):c.1633C>T (p.Arg545Ter) | -1 | MedGen:CN239941,OMIM:617284 | 19 | 35720980 | 35720980 | C | T |
| 361776 | single nucleotide variant | NM_014727.2(KMT2B):c.1633C>T (p.Arg545Ter) | -1 | MedGen:CN239941,OMIM:617284 | 19 | 36211882 | 36211882 | C | T |
| 361777 | single nucleotide variant | NM_014727.2(KMT2B):c.7050-2A>G | -1 | MedGen:CN239941,OMIM:617284 | 19 | 36224662 | 36224662 | A | G |
| 361777 | single nucleotide variant | NM_014727.2(KMT2B):c.7050-2A>G | -1 | MedGen:CN239941,OMIM:617284 | 19 | 35733761 | 35733761 | A | G |
| 361778 | single nucleotide variant | NM_014727.2(KMT2B):c.2428C>T (p.Gln810Ter) | -1 | MedGen:CN239941,OMIM:617284 | 19 | 35721775 | 35721775 | C | T |
| 361778 | single nucleotide variant | NM_014727.2(KMT2B):c.2428C>T (p.Gln810Ter) | -1 | MedGen:CN239941,OMIM:617284 | 19 | 36212677 | 36212677 | C | T |
| 361779 | duplication | NM_014727.2(KMT2B):c.402dupC (p.Ser135Glnfs) | -1 | MedGen:CN239941,OMIM:617284 | 19 | 35719507 | 35719507 | C | CC |
| 361779 | duplication | NM_014727.2(KMT2B):c.402dupC (p.Ser135Glnfs) | -1 | MedGen:CN239941,OMIM:617284 | 19 | 36210409 | 36210409 | C | CC |
| 361780 | single nucleotide variant | NM_014727.2(KMT2B):c.1690C>T (p.Arg564Ter) | -1 | MedGen:CN239941,OMIM:617284 | 19 | 36211939 | 36211939 | C | T |
| 361780 | single nucleotide variant | NM_014727.2(KMT2B):c.1690C>T (p.Arg564Ter) | -1 | MedGen:CN239941,OMIM:617284 | 19 | 35721037 | 35721037 | C | T |
| 361781 | single nucleotide variant | NM_014727.2(KMT2B):c.4545C>A (p.Tyr1515Ter) | -1 | MedGen:CN239941,OMIM:617284 | 19 | 36219046 | 36219046 | C | A |
| 361781 | single nucleotide variant | NM_014727.2(KMT2B):c.4545C>A (p.Tyr1515Ter) | -1 | MedGen:CN239941,OMIM:617284 | 19 | 35728145 | 35728145 | C | A |
| 361782 | single nucleotide variant | NM_014727.2(KMT2B):c.7549C>T (p.Arg2517Trp) | -1 | MedGen:CN239941,OMIM:617284 | 19 | 36228163 | 36228163 | C | T |
| 361782 | single nucleotide variant | NM_014727.2(KMT2B):c.7549C>T (p.Arg2517Trp) | -1 | MedGen:CN239941,OMIM:617284 | 19 | 35737262 | 35737262 | C | T |