single nucleotide variant | NM_000283.4(PDE6B):c.1591C>T (p.Arg531Ter) | PDE6B | Pathogenic | 4 | 654379 | 654379 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA256717,OMIM:180072.0002 |
single nucleotide variant | NM_000283.4(PDE6B):c.1604T>A (p.Ile535Asn) | PDE6B | Pathogenic/Likely pathogenic | 4 | 654392 | 654392 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA270010,UniProtKB:P35913#VAR_009291 |
single nucleotide variant | NM_000283.4(PDE6B):c.1669C>T (p.His557Tyr) | PDE6B | Pathogenic/Likely pathogenic | 4 | 655977 | 655977 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA256720,UniProtKB:P35913#VAR_006050,OMIM:180072.0004 |
single nucleotide variant | NM_000283.4(PDE6B):c.1670A>G (p.His557Arg) | PDE6B | Likely pathogenic | 4 | 655978 | 655978 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000283.4(PDE6B):c.1678C>T (p.Arg560Cys) | PDE6B | Pathogenic/Likely pathogenic | 4 | 655986 | 655986 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA277821,OMIM:180072.0008 |
single nucleotide variant | NM_000283.4(PDE6B):c.1699C>T (p.Gln567Ter) | PDE6B | Pathogenic/Likely pathogenic | 4 | 656007 | 656007 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000283.4(PDE6B):c.1832+1G>T | PDE6B | Pathogenic | 4 | 656408 | 656408 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA355917651 |
Deletion | NM_000283.4(PDE6B):c.1860del (p.His620fs) | PDE6B | Pathogenic | 4 | 656916 | 656916 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA2794733 |
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 |
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 |