single nucleotide variant | NM_003482.4(KMT2D):c.15104G>C (p.Cys5035Ser) | KMT2D | Likely pathogenic | 12 | 49420645 | 49420645 | C | G | criteria provided, single submitter | ClinGen:CA222025 |
Duplication | NM_003482.4(KMT2D):c.15030dup (p.Glu5011fs) | KMT2D | Pathogenic | 12 | 49420718 | 49420719 | C | CT | criteria provided, single submitter | ClinGen:CA222022 |
single nucleotide variant | NM_003482.4(KMT2D):c.14710C>T (p.Arg4904Ter) | KMT2D | Pathogenic | 12 | 49421039 | 49421039 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA222020 |
Duplication | NM_003482.4(KMT2D):c.14580dup (p.Asp4861Ter) | KMT2D | Pathogenic | 12 | 49421648 | 49421649 | C | CA | criteria provided, single submitter | ClinGen:CA222019 |
Deletion | NM_003482.4(KMT2D):c.13032del (p.Lys4345fs) | KMT2D | Pathogenic/Likely pathogenic | 12 | 49425456 | 49425456 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA222012 |
Duplication | NM_003482.4(KMT2D):c.1300dup (p.Leu434fs) | KMT2D | Pathogenic | 12 | 49446165 | 49446166 | A | AG | criteria provided, multiple submitters, no conflicts | ClinGen:CA222011 |
single nucleotide variant | NM_003482.4(KMT2D):c.12430C>T (p.Gln4144Ter) | KMT2D | Pathogenic | 12 | 49426058 | 49426058 | G | A | criteria provided, single submitter | ClinGen:CA222005 |
single nucleotide variant | NM_003482.4(KMT2D):c.12406C>T (p.Gln4136Ter) | KMT2D | Pathogenic | 12 | 49426082 | 49426082 | G | A | criteria provided, single submitter | ClinGen:CA222003 |
single nucleotide variant | NM_003482.4(KMT2D):c.11692C>T (p.Gln3898Ter) | KMT2D | Pathogenic/Likely pathogenic | 12 | 49426796 | 49426796 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA221995 |
Deletion | NM_003482.4(KMT2D):c.11201_11202del (p.Leu3734fs) | KMT2D | Pathogenic | 12 | 49427286 | 49427287 | GCA | G | criteria provided, single submitter | ClinGen:CA221994 |