single nucleotide variant | NM_000033.4(ABCD1):c.1802G>A (p.Trp601Ter) | ABCD1 | Pathogenic | X | 153008462 | 153008462 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA278410 |
single nucleotide variant | NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp) | ABCD1 | Pathogenic/Likely pathogenic | X | 153006164 | 153006164 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA278409,UniProtKB:P33897#VAR_009382 |
single nucleotide variant | NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu) | ABCD1 | Pathogenic | X | 153006072 | 153006072 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA278408,UniProtKB:P33897#VAR_000075 |
single nucleotide variant | NM_000033.4(ABCD1):c.1660C>A (p.Arg554Ser) | ABCD1 | Likely pathogenic | X | 153006053 | 153006053 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA278406 |
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.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.1396C>T (p.Gln466Ter) | ABCD1 | Pathogenic | X | 153002613 | 153002613 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA278401 |
single nucleotide variant | NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) | ABCD1 | Pathogenic/Likely pathogenic | X | 152991559 | 152991559 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA278382,UniProtKB:P33897#VAR_013347 |
single nucleotide variant | NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr) | ABCD1 | Pathogenic | X | 152991142 | 152991142 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA278381,UniProtKB:P33897#VAR_000033 |
single nucleotide variant | NM_000033.4(ABCD1):c.1592T>C (p.Leu531Pro) | ABCD1 | Likely pathogenic | X | 153005649 | 153005649 | T | C | criteria provided, single submitter | ClinGen:CA278375 |