Duplication | NM_003482.4(KMT2D):c.303dup (p.Ser102fs) | KMT2D | Pathogenic | 12 | 49448407 | 49448408 | T | TC | criteria provided, multiple submitters, no conflicts | ClinGen:CA658658153 |
single nucleotide variant | NM_003482.4(KMT2D):c.400+1G>C | KMT2D | Pathogenic | 12 | 49448310 | 49448310 | C | G | criteria provided, single submitter | ClinGen:CA271633 |
single nucleotide variant | NM_003482.4(KMT2D):c.401-3A>G | KMT2D | Pathogenic | 12 | 49448202 | 49448202 | T | C | criteria provided, single submitter | ClinGen:CA10603275 |
single nucleotide variant | NM_003482.4(KMT2D):c.401-2A>T | KMT2D | Pathogenic | 12 | 49448201 | 49448201 | T | A | criteria provided, single submitter | ClinGen:CA384687590 |
single nucleotide variant | NM_003482.4(KMT2D):c.423G>A (p.Trp141Ter) | KMT2D | Likely pathogenic | 12 | 49448177 | 49448177 | C | T | criteria provided, single submitter | - |
Duplication | NM_003482.4(KMT2D):c.603_604dup (p.Gly202fs) | KMT2D | Pathogenic | 12 | 49447829 | 49447830 | C | CCG | criteria provided, single submitter | ClinGen:CA645372914 |
Deletion | NM_003482.4(KMT2D):c.702del (p.Pro235fs) | KMT2D | Likely pathogenic | 12 | 49447396 | 49447396 | GC | G | criteria provided, single submitter | - |
Deletion | NM_003482.4(KMT2D):c.709del (p.Glu237fs) | KMT2D | Pathogenic | 12 | 49447389 | 49447389 | TC | T | criteria provided, single submitter | ClinGen:CA16619545 |
Deletion | NM_003482.4(KMT2D):c.713del (p.Leu238fs) | KMT2D | Pathogenic | 12 | 49447385 | 49447385 | CA | C | criteria provided, single submitter | - |
Duplication | NM_003482.4(KMT2D):c.836dup (p.Cys279fs) | KMT2D | Pathogenic | 12 | 49447261 | 49447262 | G | GC | criteria provided, single submitter | ClinGen:CA277409 |