single nucleotide variant | NM_006445.4(PRPF8):c.6926A>G (p.His2309Arg) | PRPF8 | Pathogenic | 17 | 1554178 | 1554178 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA252740,UniProtKB:Q6P2Q9#VAR_022629,OMIM:607300.0001 |
single nucleotide variant | NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly) | PRPF8 | Pathogenic | 17 | 1554176 | 1554176 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA397562024 |
single nucleotide variant | NM_006445.4(PRPF8):c.6929G>A (p.Arg2310Lys) | PRPF8 | Pathogenic | 17 | 1554175 | 1554175 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA252742,UniProtKB:Q6P2Q9#VAR_022631,OMIM:607300.0003 |
single nucleotide variant | NM_006445.4(PRPF8):c.6930G>C (p.Arg2310Ser) | PRPF8 | Pathogenic | 17 | 1554174 | 1554174 | C | G | criteria provided, single submitter | OMIM:607300.0007 |
Duplication | NM_006445.3(PRPF8):c.6972dup (p.Val2325Glyfs) | PRPF8 | Likely pathogenic | 17 | 1554130 | 1554131 | A | AC | criteria provided, single submitter | ClinGen:CA16621697 |
Deletion | NM_138393.4(REEP6):c.448del (p.Ala150fs) | REEP6 | Pathogenic | 19 | 1496380 | 1496380 | CG | C | criteria provided, single submitter | ClinGen:CA16044054,OMIM:609346.0002 |
single nucleotide variant | NM_138393.4(REEP6):c.404T>C (p.Leu135Pro) | REEP6 | Likely pathogenic | 19 | 1496339 | 1496339 | T | C | criteria provided, single submitter | ClinGen:CA16044006,OMIM:609346.0001 |
single nucleotide variant | NM_000283.4(PDE6B):c.2401C>T (p.Gln801Ter) | PDE6B | Pathogenic | 4 | 661693 | 661693 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000283.4(PDE6B):c.2193+1G>A | PDE6B | Pathogenic | 4 | 658734 | 658734 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA273358 |
Indel | NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) | PDE6B | Pathogenic/Likely pathogenic | 4 | 657561 | 657607 | CCTGAACATCTACCAGAACCTGAACCGGCGGCAGCACGAGCACGTGA | TCTGGG | criteria provided, multiple submitters, no conflicts | ClinGen:CA090985 |