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.3094+2T>C | KDM6A | Likely pathogenic | X | 44937752 | 44937752 | T | C | criteria provided, single submitter | - |
single nucleotide variant | NM_001291415.2(KDM6A):c.3172C>T (p.Gln1058Ter) | KDM6A | Pathogenic | X | 44938468 | 44938468 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA412801240 |
single nucleotide variant | NM_001291415.2(KDM6A):c.3300+1G>A | KDM6A | Likely pathogenic | X | 44938597 | 44938597 | G | A | criteria provided, single submitter | - |
Deletion | NM_001291415.2(KDM6A):c.3341_3344del (p.Asp1114fs) | KDM6A | Pathogenic | X | 44941859 | 44941862 | CAGAT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658799731 |
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.3740C>T (p.Pro1247Leu) | KDM6A | Likely pathogenic | X | 44949023 | 44949023 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001291415.2(KDM6A):c.3754C>T (p.Leu1252Phe) | KDM6A | Likely pathogenic | X | 44949037 | 44949037 | C | T | criteria provided, single submitter | ClinGen:CA16609406 |
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 |
single nucleotide variant | NM_001291415.2(KDM6A):c.3835T>C (p.Trp1279Arg) | KDM6A | Likely pathogenic | X | 44949118 | 44949118 | T | C | criteria provided, single submitter | ClinGen:CA16621408 |