single nucleotide variant | NM_000033.4(ABCD1):c.1586G>A (p.Gly529Asp) | ABCD1 | Likely pathogenic | X | 153005643 | 153005643 | G | A | criteria provided, single submitter | ClinGen:CA278404 |
single nucleotide variant | NM_000033.4(ABCD1):c.1567C>T (p.Leu523Phe) | ABCD1 | Pathogenic | X | 153005624 | 153005624 | C | T | criteria provided, single submitter | ClinGen:CA415111462 |
single nucleotide variant | NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln) | ABCD1 | Pathogenic | X | 153005610 | 153005610 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA278403,UniProtKB:P33897#VAR_000070 |
single nucleotide variant | NM_000033.4(ABCD1):c.1552C>G (p.Arg518Gly) | ABCD1 | Pathogenic | X | 153005609 | 153005609 | C | G | criteria provided, single submitter | ClinGen:CA415111345 |
single nucleotide variant | NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp) | ABCD1 | Pathogenic/Likely pathogenic | X | 153005609 | 153005609 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA278115,UniProtKB:P33897#VAR_000071,OMIM:300371.0016 |
single nucleotide variant | NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser) | ABCD1 | Pathogenic/Likely pathogenic | X | 153005591 | 153005591 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000033.4(ABCD1):c.1489-1G>A | ABCD1 | Pathogenic | X | 153005545 | 153005545 | G | A | criteria provided, single submitter | - |
Deletion | NC_000023.11:g.(?_153740082)_(153740247_?)del | ABCD1 | Pathogenic | X | 153005536 | 153005701 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000033.4(ABCD1):c.1454C>G (p.Ser485Ter) | ABCD1 | Pathogenic | X | 153002671 | 153002671 | C | G | criteria provided, single submitter | - |
Deletion | NM_000033.4(ABCD1):c.1440del (p.Ile481fs) | ABCD1 | Pathogenic | X | 153002654 | 153002654 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA645509234 |