Duplication | NM_001291415.2(KDM6A):c.2306dup (p.Ser770fs) | KDM6A | Pathogenic | X | 44929049 | 44929050 | G | GA | criteria provided, single submitter | ClinGen:CA10603484 |
Deletion | NM_001291415.2(KDM6A):c.2482_2485del (p.Asp828fs) | KDM6A | Pathogenic | X | 44929224 | 44929227 | TCAGA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10588786 |
single nucleotide variant | NM_001291415.2(KDM6A):c.3991C>T (p.Arg1331Ter) | KDM6A | Pathogenic/Likely pathogenic | X | 44950066 | 44950066 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA278963 |
single nucleotide variant | NM_001291415.2(KDM6A):c.3791A>G (p.Gln1264Arg) | KDM6A | Likely pathogenic | X | 44949074 | 44949074 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA206562 |
Duplication | NM_001291415.2(KDM6A):c.2988+2dup | KDM6A | Likely pathogenic | X | 44936072 | 44936073 | G | GT | criteria provided, single submitter | ClinGen:CA209510 |
Deletion | NM_001291415.2(KDM6A):c.1699del (p.Val567fs) | KDM6A | Pathogenic | X | 44922682 | 44922682 | AG | A | criteria provided, single submitter | ClinGen:CA206658 |
Deletion | NM_001291415.2(KDM6A):c.2671_2674del (p.Asn891fs) | KDM6A | Pathogenic | X | 44929412 | 44929415 | CACAA | C | criteria provided, single submitter | ClinGen:CA199644,OMIM:300128.0006 |
single nucleotide variant | NM_001291415.2(KDM6A):c.1711C>T (p.Arg571Ter) | KDM6A | Pathogenic | X | 44922694 | 44922694 | C | T | criteria provided, single submitter | ClinGen:CA130685,OMIM:300128.0003 |
single nucleotide variant | NM_003482.4(KMT2D):c.5319+1G>A | KMT2D | Likely pathogenic | 12 | 49437650 | 49437650 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_003482.4(KMT2D):c.14076-2A>C | KMT2D | Likely pathogenic | 12 | 49423021 | 49423021 | T | G | criteria provided, single submitter | - |