Variants
MAX variants
The 2 MAX 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 |
|---|---|---|---|---|---|
| A67D | c.200C>A | Exon 4 | 65,078,008 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R33X | c.97C>T | Exon 3 | 65,093,782 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |