single nucleotide variant | NM_001034853.2(RPGR):c.1573-8A>G | RPGR | Likely pathogenic | X | 38147302 | 38147302 | T | C | criteria provided, single submitter | ClinGen:CA226372 |
single nucleotide variant | NM_001034853.2(RPGR):c.1573-2A>G | RPGR | Pathogenic | X | 38147296 | 38147296 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA226371 |
single nucleotide variant | NM_001034853.2(RPGR):c.1573-1G>A | RPGR | Pathogenic | X | 38147295 | 38147295 | C | T | criteria provided, single submitter | ClinGen:CA226370 |
Deletion | NM_001034853.2(RPGR):c.2346del (p.Lys783fs) | RPGR | Pathogenic/Likely pathogenic | X | 38145906 | 38145906 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16621887 |
Deletion | NM_001034853.2(RPGR):c.2384del (p.Glu795fs) | RPGR | Pathogenic/Likely pathogenic | X | 38145868 | 38145868 | CT | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001034853.2(RPGR):c.2416G>T (p.Glu806Ter) | RPGR | Pathogenic/Likely pathogenic | X | 38145836 | 38145836 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA412730692 |
Deletion | NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs) | RPGR | Pathogenic | X | 38145807 | 38145810 | CCTCT | C | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_001034853.2(RPGR):c.2505_2506del (p.Glu836fs) | RPGR | Pathogenic | X | 38145746 | 38145747 | TCC | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001034853.2(RPGR):c.2605G>T (p.Glu869Ter) | RPGR | Pathogenic/Likely pathogenic | X | 38145647 | 38145647 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA412730244 |
single nucleotide variant | NM_001034853.2(RPGR):c.2641G>T (p.Glu881Ter) | RPGR | Likely pathogenic | X | 38145611 | 38145611 | C | A | criteria provided, single submitter | - |