Duplication | NM_001291415.2(KDM6A):c.2802_2803dup (p.Pro935fs) | KDM6A | Pathogenic | X | 44929545 | 44929546 | T | TAC | criteria provided, single submitter | - |
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 |
Deletion | NM_001291415.2(KDM6A):c.2618_2619del (p.Ser873fs) | KDM6A | Pathogenic | X | 44929362 | 44929363 | TCA | T | criteria provided, single submitter | ClinGen:CA658799730 |
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.2356A>G (p.Thr786Ala) | KDM6A | Likely pathogenic | X | 44929100 | 44929100 | A | G | criteria provided, single submitter | ClinGen:CA10392500 |
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.2231_2232del (p.Gln744fs) | KDM6A | Pathogenic | X | 44928975 | 44928976 | CAG | C | criteria provided, single submitter | ClinGen:CA658799729 |
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 | - |
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 |
Deletion | NM_001291415.2(KDM6A):c.1699del (p.Val567fs) | KDM6A | Pathogenic | X | 44922682 | 44922682 | AG | A | criteria provided, single submitter | ClinGen:CA206658 |