Variants
ABCD1 variants
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.
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A95D | c.284C>A | Exon 1 | 153,725,550 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.-18_8del | Exon 1 | 153,725,248 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1A>G | Exon 1 | 153,725,267 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.346G>C | Exon 1 | 153,725,612 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| 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 | |
| G116R | c.346G>A | Exon 1 | 153,725,612 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K217E | c.649A>G | Exon 1 | 153,725,915 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q544R | c.1631A>G | Exon 6 | 153,740,234 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R104C | c.310C>T | Exon 1 | 153,725,576 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R617H | c.1850G>A | Exon 8 | 153,743,056 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S342P | c.1024T>C | Exon 2 | 153,729,355 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S606L | c.1817C>T | Exon 8 | 153,743,023 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S606P | c.1816T>C | Exon 8 | 153,743,022 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W679X | c.2037G>A | Exon 10 | 153,743,534 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y174C | c.521A>G | Exon 1 | 153,725,787 | Pathogenic | 3 stars out of 4 reviewed by expert panel |