single nucleotide variant | NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94508969 | 94508969 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA119135,UniProtKB:P78363#VAR_008433,OMIM:601691.0016,OMIM:601691.0023,ClinVar:7901 |
single nucleotide variant | NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94508976 | 94508976 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA227082,UniProtKB:P78363#VAR_008432,OMIM:601691.0012 |
single nucleotide variant | NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94471065 | 94471065 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA119129,UniProtKB:P78363#VAR_008478,OMIM:601691.0004 |
Deletion | NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs) | CRB1 | Pathogenic | 1 | 197446905 | 197446914 | AAGGGCAACTC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA212839,OMIM:604210.0012 |
single nucleotide variant | NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg) | CRB1 | Pathogenic | 1 | 197404300 | 197404300 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA117711,UniProtKB:P82279#VAR_022974,OMIM:604210.0011 |
single nucleotide variant | NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter) | CRB1 | Pathogenic | 1 | 197396856 | 197396856 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA203531,OMIM:604210.0008 |
single nucleotide variant | NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg) | CRB1 | Likely pathogenic | 1 | 197404292 | 197404292 | T | G | criteria provided, single submitter | ClinGen:CA117707,UniProtKB:P82279#VAR_011648,OMIM:604210.0006 |
single nucleotide variant | NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) | CRB1 | Pathogenic/Likely pathogenic | 1 | 197396689 | 197396689 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA228003,UniProtKB:P82279#VAR_011643,OMIM:604210.0005 |
single nucleotide variant | NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) | CRB1 | Pathogenic/Likely pathogenic | 1 | 197396745 | 197396745 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA228006,UniProtKB:P82279#VAR_011644,OMIM:604210.0004 |
single nucleotide variant | NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr) | CRB1 | Pathogenic | 1 | 197404115 | 197404115 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA228031,UniProtKB:P82279#VAR_011646,OMIM:604210.0002 |