Variants
ABCD1 variants
Predicted effect: Splice site or region. 3 of the 17 ABCD1 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|
| c.900+2T>A | Intron 1 | 153,726,168 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.900+2T>C | Intron 1 | 153,726,168 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.900+2T>G | Intron 1 | 153,726,168 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |