single nucleotide variant | NM_001291415.2(KDM6A):c.3919C>T (p.Arg1307Trp) | KDM6A | Pathogenic | X | 44949994 | 44949994 | C | T | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_001291415.2(KDM6A):c.4101dup (p.Glu1368fs) | KDM6A | Likely pathogenic | X | 44966717 | 44966718 | G | GA | criteria provided, single submitter | - |
single nucleotide variant | NM_001291415.2(KDM6A):c.2128C>T (p.Arg710Ter) | KDM6A | Pathogenic | X | 44928872 | 44928872 | C | T | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_001291415.2(KDM6A):c.2802_2803dup (p.Pro935fs) | KDM6A | Pathogenic | X | 44929545 | 44929546 | T | TAC | criteria provided, single submitter | - |
single nucleotide variant | NM_001291415.2(KDM6A):c.3740C>T (p.Pro1247Leu) | KDM6A | Likely pathogenic | X | 44949023 | 44949023 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001291415.2(KDM6A):c.4207C>T (p.Arg1403Ter) | KDM6A | Pathogenic | X | 44969369 | 44969369 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001291415.2(KDM6A):c.1581+1G>T | KDM6A | Likely pathogenic | X | 44920665 | 44920665 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001291415.2(KDM6A):c.3300+1G>A | KDM6A | Likely pathogenic | X | 44938597 | 44938597 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His) | KMT2D | Pathogenic/Likely pathogenic | 12 | 49420213 | 49420213 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA254197,UniProtKB:O14686#VAR_063831,OMIM:602113.0001 |
single nucleotide variant | NM_003482.4(KMT2D):c.16360C>T (p.Arg5454Ter) | KMT2D | Pathogenic | 12 | 49416115 | 49416115 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA254200,OMIM:602113.0003 |