Indel | NM_003482.4(KMT2D):c.10623_10629delinsCGCAAGTCACG (p.Leu3542fs) | KMT2D | Pathogenic | 12 | 49427961 | 49427967 | ACACAGA | CGTGACTTGCG | criteria provided, single submitter | ClinGen:CA221980 |
single nucleotide variant | NM_003482.4(KMT2D):c.10740G>A (p.Gln3580=) | KMT2D | Likely pathogenic | 12 | 49427850 | 49427850 | C | T | criteria provided, single submitter | ClinGen:CA221981 |
single nucleotide variant | NM_003482.4(KMT2D):c.10819C>T (p.Gln3607Ter) | KMT2D | Pathogenic | 12 | 49427669 | 49427669 | G | A | criteria provided, single submitter | ClinGen:CA221983 |
single nucleotide variant | NM_003482.4(KMT2D):c.10834C>T (p.Gln3612Ter) | KMT2D | Pathogenic | 12 | 49427654 | 49427654 | G | A | criteria provided, single submitter | ClinGen:CA221985 |
single nucleotide variant | NM_003482.4(KMT2D):c.11149C>T (p.Gln3717Ter) | KMT2D | Pathogenic | 12 | 49427339 | 49427339 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA221990 |
Deletion | NM_003482.4(KMT2D):c.11201_11202del (p.Leu3734fs) | KMT2D | Pathogenic | 12 | 49427286 | 49427287 | GCA | G | criteria provided, single submitter | ClinGen:CA221994 |
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 |
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.12430C>T (p.Gln4144Ter) | KMT2D | Pathogenic | 12 | 49426058 | 49426058 | G | A | criteria provided, single submitter | ClinGen:CA222005 |
Duplication | NM_003482.4(KMT2D):c.1300dup (p.Leu434fs) | KMT2D | Pathogenic | 12 | 49446165 | 49446166 | A | AG | criteria provided, multiple submitters, no conflicts | ClinGen:CA222011 |