Deletion | NM_001291415.2(KDM6A):c.2231_2232del (p.Gln744fs) | KDM6A | Pathogenic | X | 44928975 | 44928976 | CAG | C | criteria provided, single submitter | ClinGen:CA658799729 |
Duplication | NM_001291415.2(KDM6A):c.75_90dup (p.Ser31fs) | KDM6A | Likely pathogenic | X | 44732871 | 44732872 | T | TGGCGGCGGGAAAAGCG | criteria provided, single submitter | ClinGen:CA658799727 |
single nucleotide variant | NM_001291415.2(KDM6A):c.3953C>A (p.Ser1318Ter) | KDM6A | Pathogenic | X | 44950028 | 44950028 | C | A | criteria provided, single submitter | ClinGen:CA412808311 |
Deletion | NM_001291415.2(KDM6A):c.2618_2619del (p.Ser873fs) | KDM6A | Pathogenic | X | 44929362 | 44929363 | TCA | T | criteria provided, single submitter | ClinGen:CA658799730 |
single nucleotide variant | NM_001291415.2(KDM6A):c.2988+1G>A | KDM6A | Pathogenic | X | 44936072 | 44936072 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA412799350 |
single nucleotide variant | NM_001291415.2(KDM6A):c.3614G>A (p.Cys1205Tyr) | KDM6A | Likely pathogenic | X | 44945134 | 44945134 | G | A | criteria provided, single submitter | ClinGen:CA412804999 |
single nucleotide variant | NM_001291415.2(KDM6A):c.4060C>T (p.Gln1354Ter) | KDM6A | Pathogenic | X | 44966680 | 44966680 | C | T | criteria provided, single submitter | - |
Deletion | NM_001291415.2(KDM6A):c.62del (p.Glu21fs) | KDM6A | Likely pathogenic | X | 44732859 | 44732859 | GA | G | criteria provided, single submitter | - |
single nucleotide variant | NM_001291415.2(KDM6A):c.3925G>T (p.Glu1309Ter) | KDM6A | Likely pathogenic | X | 44950000 | 44950000 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001291415.2(KDM6A):c.3094+2T>C | KDM6A | Likely pathogenic | X | 44937752 | 44937752 | T | C | criteria provided, single submitter | - |