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 |
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.3835T>C (p.Trp1279Arg) | KDM6A | Likely pathogenic | X | 44949118 | 44949118 | T | C | criteria provided, single submitter | ClinGen:CA16621408 |
Deletion | NM_001291415.2(KDM6A):c.4134_4137del (p.Pro1379fs) | KDM6A | Pathogenic | X | 44966753 | 44966756 | GAACC | G | criteria provided, single submitter | ClinGen:CA16621409 |
single nucleotide variant | NM_001291415.2(KDM6A):c.748+1G>A | KDM6A | Likely pathogenic | X | 44911048 | 44911048 | G | A | criteria provided, single submitter | ClinGen:CA412778803 |
single nucleotide variant | NM_001291415.2(KDM6A):c.2988+1G>C | KDM6A | Pathogenic | X | 44936072 | 44936072 | G | C | criteria provided, single submitter | ClinGen:CA412799348 |
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.398T>G (p.Leu133Ter) | KDM6A | Pathogenic | X | 44870219 | 44870219 | T | G | criteria provided, single submitter | ClinGen:CA413022096 |
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.1015C>T (p.Gln339Ter) | KDM6A | Pathogenic | X | 44918532 | 44918532 | C | T | criteria provided, single submitter | ClinGen:CA412782016 |