single nucleotide variant | NM_003482.4(KMT2D):c.840-2A>G | KMT2D | Likely pathogenic | 12 | 49447106 | 49447106 | T | C | criteria provided, single submitter | ClinGen:CA384680417 |
Deletion | NM_003482.4(KMT2D):c.945del (p.Ser314_Trp315insTer) | KMT2D | Pathogenic | 12 | 49446999 | 49446999 | TC | T | criteria provided, single submitter | - |
Deletion | NM_003482.4(KMT2D):c.1143del (p.Thr382fs) | KMT2D | Pathogenic/Likely pathogenic | 12 | 49446462 | 49446462 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16619544 |
single nucleotide variant | NM_003482.4(KMT2D):c.1259-2A>G | KMT2D | Pathogenic | 12 | 49446209 | 49446209 | T | C | criteria provided, single submitter | ClinGen:CA16607303 |
Deletion | NM_003482.4(KMT2D):c.1300del (p.Pro433_Leu434insTer) | KMT2D | Pathogenic/Likely pathogenic | 12 | 49446166 | 49446166 | AG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10603270 |
Deletion | NM_003482.4(KMT2D):c.1301del (p.Leu434fs) | KMT2D | Pathogenic | 12 | 49446165 | 49446165 | TA | T | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_003482.4(KMT2D):c.1300dup (p.Leu434fs) | KMT2D | Pathogenic | 12 | 49446165 | 49446166 | A | AG | criteria provided, multiple submitters, no conflicts | ClinGen:CA222011 |
Deletion | NM_003482.4(KMT2D):c.1329_1332del (p.Pro444fs) | KMT2D | Pathogenic/Likely pathogenic | 12 | 49446134 | 49446137 | CAGGT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA271589 |
Deletion | NM_003482.4(KMT2D):c.1345_1346del (p.Leu449fs) | KMT2D | Pathogenic | 12 | 49446120 | 49446121 | CAG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658658152 |
Deletion | NM_003482.4(KMT2D):c.1468_1471del (p.Glu490fs) | KMT2D | Pathogenic | 12 | 49445995 | 49445998 | TCCTC | T | criteria provided, single submitter | - |