Deletion | NM_001034853.2(RPGR):c.255del (p.Lys85fs) | RPGR | Pathogenic/Likely pathogenic | X | 38180335 | 38180335 | GT | G | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_001034853.2(RPGR):c.372del (p.Glu125fs) | RPGR | Pathogenic | X | 38178179 | 38178179 | CG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA226415 |
Deletion | NM_001034853.2(RPGR):c.485_486del (p.Phe162fs) | RPGR | Pathogenic | X | 38176702 | 38176703 | TAA | T | criteria provided, single submitter | ClinGen:CA226423 |
Deletion | NM_001034853.2(RPGR):c.486del (p.Phe162fs) | RPGR | Pathogenic | X | 38176702 | 38176702 | TA | T | criteria provided, single submitter | ClinGen:CA226424 |
single nucleotide variant | NM_001034853.2(RPGR):c.492G>A (p.Trp164Ter) | RPGR | Pathogenic | X | 38176696 | 38176696 | C | T | criteria provided, single submitter | ClinGen:CA226425 |
single nucleotide variant | NM_001034853.2(RPGR):c.505G>T (p.Glu169Ter) | RPGR | Pathogenic/Likely pathogenic | X | 38176683 | 38176683 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA220674 |
single nucleotide variant | NM_001034853.2(RPGR):c.517G>C (p.Gly173Arg) | RPGR | Pathogenic | X | 38176671 | 38176671 | C | G | criteria provided, single submitter | ClinGen:CA120805,UniProtKB:Q92834#VAR_018060,OMIM:312610.0020 |
single nucleotide variant | NM_001034853.2(RPGR):c.581G>A (p.Trp194Ter) | RPGR | Pathogenic | X | 38176607 | 38176607 | C | T | criteria provided, single submitter | ClinGen:CA226427 |
Indel | NM_001034853.2(RPGR):c.642_656delinsC (p.Gly215fs) | RPGR | Pathogenic/Likely pathogenic | X | 38169990 | 38170004 | TTCTCAGGTTCTCCA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA275388 |
single nucleotide variant | NM_001034853.2(RPGR):c.644G>T (p.Gly215Val) | RPGR | Likely pathogenic | X | 38170002 | 38170002 | C | A | criteria provided, single submitter | ClinGen:CA226433,UniProtKB:Q92834#VAR_008505 |