single nucleotide variant | NM_000350.3(ABCA4):c.3149G>A (p.Gly1050Asp) | ABCA4 | Pathogenic | 1 | 94508933 | 94508933 | C | T | criteria provided, single submitter | ClinGen:CA227083 |
single nucleotide variant | NM_000350.3(ABCA4):c.3085C>T (p.Gln1029Ter) | ABCA4 | Pathogenic | 1 | 94508997 | 94508997 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA227079 |
single nucleotide variant | NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94509018 | 94509018 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA227078,UniProtKB:P78363#VAR_012555 |
single nucleotide variant | NM_000350.3(ABCA4):c.3055A>G (p.Thr1019Ala) | ABCA4 | Pathogenic | 1 | 94509027 | 94509027 | T | C | criteria provided, single submitter | ClinGen:CA227075,UniProtKB:P78363#VAR_012553 |
single nucleotide variant | NM_000350.3(ABCA4):c.3050+5G>A | ABCA4 | Pathogenic | 1 | 94510164 | 94510164 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA227073 |
single nucleotide variant | NM_000350.3(ABCA4):c.3041T>G (p.Leu1014Arg) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94510178 | 94510178 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA227072,UniProtKB:P78363#VAR_012552 |
single nucleotide variant | NM_000350.3(ABCA4):c.302+1G>A | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94576993 | 94576993 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA227068 |
single nucleotide variant | NM_000350.3(ABCA4):c.298T>C (p.Ser100Pro) | ABCA4 | Likely pathogenic | 1 | 94576998 | 94576998 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA227065,UniProtKB:P78363#VAR_012502 |
single nucleotide variant | NM_000350.3(ABCA4):c.2971G>T (p.Gly991Ter) | ABCA4 | Pathogenic | 1 | 94510248 | 94510248 | C | A | criteria provided, single submitter | ClinGen:CA227062 |
Duplication | NM_000350.3(ABCA4):c.296dup (p.Asn99fs) | ABCA4 | Pathogenic | 1 | 94576999 | 94577000 | G | GT | criteria provided, multiple submitters, no conflicts | ClinGen:CA227060 |