Deletion | NM_031885.5(BBS2):c.402del (p.Ala136fs) | BBS2 | Pathogenic/Likely pathogenic | 16 | 56545140 | 56545140 | GA | G | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_018418.5(SPATA7):c.1102_1103del (p.Leu368fs) | SPATA7 | Pathogenic/Likely pathogenic | 14 | 88899497 | 88899498 | ATC | A | criteria provided, multiple submitters, no conflicts | OMIM:609868.0010 |
Deletion | NM_004183.4(BEST1):c.1415del (p.Leu472fs) | BEST1 | Pathogenic/Likely pathogenic | 11 | 61730041 | 61730041 | CT | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter) | EYS | Pathogenic/Likely pathogenic | 6 | 64436534 | 64436534 | A | C | criteria provided, multiple submitters, no conflicts | - |
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_031885.5(BBS2):c.1062C>G (p.Asn354Lys) | BBS2 | Pathogenic/Likely pathogenic | 16 | 56536247 | 56536247 | G | C | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_001034853.2(RPGR):c.2899dup (p.Glu967fs) | RPGR | Pathogenic/Likely pathogenic | X | 38145352 | 38145353 | T | TC | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_004183.4(BEST1):c.247+2del | BEST1 | Pathogenic/Likely pathogenic | 11 | 61722675 | 61722675 | GT | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg) | EYS | Pathogenic/Likely pathogenic | 6 | 64431148 | 64431148 | A | G | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000322.5(PRPH2):c.331del (p.Ile111fs) | PRPH2 | Pathogenic/Likely pathogenic | 6 | 42689742 | 42689742 | AT | A | criteria provided, multiple submitters, no conflicts | - |