single nucleotide variant | NM_000283.4(PDE6B):c.291C>A (p.Tyr97Ter) | PDE6B | Pathogenic | 4 | 619706 | 619706 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576636 |
Deletion | NM_000283.4(PDE6B):c.837del (p.Asp279fs) | PDE6B | Likely pathogenic | 4 | 647766 | 647766 | AC | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000283.4(PDE6B):c.886G>T (p.Glu296Ter) | PDE6B | Pathogenic/Likely pathogenic | 4 | 647902 | 647902 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16621814 |
single nucleotide variant | NM_000283.4(PDE6B):c.892C>T (p.Gln298Ter) | PDE6B | Pathogenic | 4 | 647908 | 647908 | C | T | criteria provided, multiple submitters, no conflicts | OMIM:180072.0001,ClinGen:CA256715 |
single nucleotide variant | NM_000283.4(PDE6B):c.1060-1G>T | PDE6B | Pathogenic | 4 | 650033 | 650033 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA279322 |
single nucleotide variant | NM_000283.4(PDE6B):c.1206C>G (p.Tyr402Ter) | PDE6B | Likely pathogenic | 4 | 650761 | 650761 | C | G | criteria provided, single submitter | ClinGen:CA355913337 |
single nucleotide variant | NM_000283.4(PDE6B):c.1280G>A (p.Trp427Ter) | PDE6B | Pathogenic | 4 | 651162 | 651162 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA355913773 |
single nucleotide variant | NM_000283.4(PDE6B):c.1468-2A>G | PDE6B | Likely pathogenic | 4 | 654254 | 654254 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA2794553 |
Duplication | NM_000283.4(PDE6B):c.1485dup (p.Pro496fs) | PDE6B | Pathogenic | 4 | 654270 | 654271 | A | AG | criteria provided, single submitter | ClinGen:CA645509144 |
Deletion | NM_000283.4(PDE6B):c.1540del (p.Leu514fs) | PDE6B | Pathogenic/Likely pathogenic | 4 | 654328 | 654328 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA220604 |