Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys) | ABCD1 | Pathogenic/Likely pathogenic | X | 152991208 | 152991208 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) | ABCD1 | Pathogenic/Likely pathogenic | X | 152991314 | 152991314 | C | T | criteria provided, multiple submitters, no conflicts | - |
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.1979G>A (p.Arg660Gln) | ABCD1 | Pathogenic/Likely pathogenic | X | 153008788 | 153008788 | G | A | criteria provided, multiple submitters, no conflicts | - |