single nucleotide variant | NM_003482.4(KMT2D):c.8229+1G>A | KMT2D | Pathogenic | 12 | 49433217 | 49433217 | C | T | criteria provided, single submitter | - |
Duplication | NM_003482.4(KMT2D):c.15050dup (p.Thr5018fs) | KMT2D | Pathogenic | 12 | 49420698 | 49420699 | G | GC | criteria provided, single submitter | - |
Indel | NM_003482.4(KMT2D):c.14823_14825delinsTGTT (p.Leu4941fs) | KMT2D | Pathogenic | 12 | 49420924 | 49420926 | GCC | AACA | criteria provided, single submitter | - |
Duplication | NM_003482.4(KMT2D):c.13895dup (p.Ser4633fs) | KMT2D | Pathogenic | 12 | 49424166 | 49424167 | T | TG | criteria provided, single submitter | - |
single nucleotide variant | NM_003482.4(KMT2D):c.12715C>T (p.Gln4239Ter) | KMT2D | Pathogenic | 12 | 49425773 | 49425773 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_003482.4(KMT2D):c.11971C>T (p.Gln3991Ter) | KMT2D | Pathogenic | 12 | 49426517 | 49426517 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_003482.4(KMT2D):c.11968C>T (p.Gln3990Ter) | KMT2D | Pathogenic | 12 | 49426520 | 49426520 | G | 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 | - |
single nucleotide variant | NM_003482.4(KMT2D):c.8953A>T (p.Lys2985Ter) | KMT2D | Pathogenic | 12 | 49432186 | 49432186 | T | 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 | - |