Duplication | NM_003482.4(KMT2D):c.5199_5206dup (p.Pro1736fs) | KMT2D | Pathogenic | 12 | 49437763 | 49437764 | G | GGCAGGTCA | criteria provided, single submitter | - |
single nucleotide variant | NM_003482.4(KMT2D):c.6114G>A (p.Trp2038Ter) | KMT2D | Pathogenic | 12 | 49435769 | 49435769 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_003482.4(KMT2D):c.6496C>T (p.Gln2166Ter) | KMT2D | Pathogenic | 12 | 49435057 | 49435057 | G | A | criteria provided, single submitter | - |
Deletion | NM_003482.4(KMT2D):c.6508del (p.Gln2170fs) | KMT2D | Pathogenic | 12 | 49435045 | 49435045 | TG | T | criteria provided, single submitter | - |
Duplication | NM_003482.4(KMT2D):c.6991dup (p.Leu2331fs) | KMT2D | Pathogenic | 12 | 49434561 | 49434562 | A | AG | criteria provided, single submitter | - |
Indel | NM_003482.4(KMT2D):c.7183_7214delinsACT (p.Cys2395fs) | KMT2D | Pathogenic | 12 | 49434339 | 49434370 | GAGGGCAGTGAGCGAGGGGGCAGAGCACAGCA | AGT | criteria provided, single submitter | - |
single nucleotide variant | NM_003482.4(KMT2D):c.8044C>T (p.Gln2682Ter) | KMT2D | Pathogenic | 12 | 49433509 | 49433509 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_003482.4(KMT2D):c.8200C>T (p.Arg2734Ter) | KMT2D | Pathogenic | 12 | 49433247 | 49433247 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_003482.4(KMT2D):c.8953A>T (p.Lys2985Ter) | KMT2D | Pathogenic | 12 | 49432186 | 49432186 | T | A | criteria provided, single submitter | - |
Deletion | NM_003482.4(KMT2D):c.9947del (p.Gly3316fs) | KMT2D | Pathogenic | 12 | 49431192 | 49431192 | AC | A | criteria provided, single submitter | - |