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.1661G>A (p.Arg554His) | ABCD1 | Pathogenic | X | 153006054 | 153006054 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA278460,UniProtKB:P33897#VAR_009381 |
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 |
Duplication | NM_000033.4(ABCD1):c.1660dup (p.Arg554fs) | ABCD1 | Pathogenic | X | 153006052 | 153006053 | G | GC | criteria provided, single submitter | - |
single nucleotide variant | NM_000033.4(ABCD1):c.1635-2A>G | ABCD1 | Pathogenic | X | 153006026 | 153006026 | A | G | criteria provided, multiple submitters, no conflicts | OMIM:300371.0003 |
single nucleotide variant | NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) | ABCD1 | Pathogenic/Likely pathogenic | X | 153005685 | 153005685 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA415112044 |
Deletion | NM_000033.4(ABCD1):c.1628del (p.Pro543fs) | ABCD1 | Pathogenic | X | 153005683 | 153005683 | TC | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000033.4(ABCD1):c.1621_1628del (p.Tyr541fs) | ABCD1 | Pathogenic | X | 153005677 | 153005684 | TCTACATCC | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln) | ABCD1 | Pathogenic/Likely pathogenic | X | 153005654 | 153005654 | A | C | criteria provided, multiple submitters, no conflicts | - |
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 |