single nucleotide variant | NM_000350.3(ABCA4):c.2564G>A (p.Trp855Ter) | ABCA4 | Pathogenic | 1 | 94520690 | 94520690 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA227011 |
single nucleotide variant | NM_000350.3(ABCA4):c.2461T>A (p.Trp821Arg) | ABCA4 | Pathogenic | 1 | 94520793 | 94520793 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA227001,UniProtKB:P78363#VAR_008423 |
single nucleotide variant | NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu) | ABCA4 | Pathogenic | 1 | 94520801 | 94520801 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA227000,UniProtKB:P78363#VAR_008422 |
single nucleotide variant | NM_000350.3(ABCA4):c.2390T>C (p.Leu797Pro) | ABCA4 | Likely pathogenic | 1 | 94520864 | 94520864 | A | G | criteria provided, single submitter | ClinGen:CA226998,UniProtKB:P78363#VAR_012536 |
Deletion | NM_000350.3(ABCA4):c.2385_2400del (p.Ser795fs) | ABCA4 | Pathogenic | 1 | 94520854 | 94520869 | CCACCGGAGACAGTAAG | C | criteria provided, single submitter | ClinGen:CA226997 |
single nucleotide variant | NM_000350.3(ABCA4):c.2300T>A (p.Val767Asp) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94522239 | 94522239 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA226990,UniProtKB:P78363#VAR_012535 |
single nucleotide variant | NM_000350.3(ABCA4):c.2294G>A (p.Ser765Asn) | ABCA4 | Pathogenic | 1 | 94522245 | 94522245 | C | T | criteria provided, single submitter | ClinGen:CA226988,UniProtKB:P78363#VAR_012534 |
single nucleotide variant | NM_000350.3(ABCA4):c.2291G>A (p.Cys764Tyr) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94522248 | 94522248 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA226986,UniProtKB:P78363#VAR_012532 |
single nucleotide variant | NM_000350.3(ABCA4):c.223T>G (p.Cys75Gly) | ABCA4 | Pathogenic | 1 | 94577073 | 94577073 | A | C | criteria provided, single submitter | ClinGen:CA226985,UniProtKB:P78363#VAR_008402 |
single nucleotide variant | NM_000350.3(ABCA4):c.2160+1G>C | ABCA4 | Pathogenic | 1 | 94526092 | 94526092 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA226984 |