Variants
NF2 variants
Predicted effect: Frameshift. 4 of the 30 NF2 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A4Pfs*6 | c.10del | Exon 1 | 29,604,004 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K449Rfs*45 | c.1346_1347del | Exon 13 | 29,674,839 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R187Nfs*15 | c.560_561del | Exon 6 | 29,655,632 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V92Sfs*31 | c.273del | Exon 3 | 29,639,121 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |