single nucleotide variant | NM_001034853.2(RPGR):c.706C>T (p.Gln236Ter) | RPGR | Pathogenic | X | 38169940 | 38169940 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA226437 |
single nucleotide variant | NM_001034853.2(RPGR):c.779-1G>A | RPGR | Pathogenic | X | 38164044 | 38164044 | C | T | criteria provided, single submitter | ClinGen:CA226446 |
copy number loss | GRCh37/hg19 Xp11.4(chrX:38144822-38164037) | RPGR | Pathogenic | X | 38144822 | 38164037 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_001034853.2(RPGR):c.806G>A (p.Gly269Glu) | RPGR | Likely pathogenic | X | 38164016 | 38164016 | C | T | criteria provided, single submitter | ClinGen:CA220676 |
single nucleotide variant | NM_001034853.2(RPGR):c.823G>A (p.Gly275Ser) | RPGR | Pathogenic | X | 38163999 | 38163999 | C | T | criteria provided, single submitter | ClinGen:CA226447,UniProtKB:Q92834#VAR_006852,OMIM:312610.0003 |
Deletion | NM_001034853.2(RPGR):c.837del (p.Leu280fs) | RPGR | Pathogenic | X | 38163985 | 38163985 | GA | G | criteria provided, single submitter | ClinGen:CA226451 |
Deletion | NM_001034853.2(RPGR):c.869del (p.Glu290fs) | RPGR | Pathogenic | X | 38163953 | 38163953 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA226454 |
single nucleotide variant | NM_001034853.2(RPGR):c.905G>A (p.Cys302Tyr) | RPGR | Likely pathogenic | X | 38163917 | 38163917 | C | T | criteria provided, single submitter | ClinGen:CA226459,UniProtKB:Q92834#VAR_018064 |
single nucleotide variant | NM_001034853.2(RPGR):c.934+1G>C | RPGR | Pathogenic | X | 38163887 | 38163887 | C | G | criteria provided, single submitter | ClinGen:CA226464 |
single nucleotide variant | NM_001034853.2(RPGR):c.934+1G>A | RPGR | Pathogenic | X | 38163887 | 38163887 | C | T | criteria provided, single submitter | ClinGen:CA226463 |