Variants
NF2 variants
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.
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 |
|---|---|---|---|---|---|
| A4Pfs*6 | c.10del | Exon 1 | 29,604,004 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.115-1G>A | Intron 1 | 29,636,750 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.240+1G>A | Intron 2 | 29,636,877 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.448-1G>A | Intron 4 | 29,654,656 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.516+1G>A | Intron 5 | 29,654,726 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.517-1G>A | Intron 5 | 29,655,593 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.600-2A>G | Intron 6 | 29,658,187 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.810+1G>A | Intron 8 | 29,661,340 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1340+2T>G | Intron 12 | 29,673,488 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1447-1G>A | Intron 13 | 29,678,195 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| E372X | c.1114G>T | Exon 11 | 29,671,940 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E527X | c.1579G>T | Exon 15 | 29,681,443 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F119del | c.357_359del | Exon 3 | 29,639,200 | Likely 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 |
| L64P | c.191T>C | Exon 2 | 29,636,827 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L517P | c.1550T>C | Exon 14 | 29,678,299 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N220Y | c.658A>T | Exon 7 | 29,658,247 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q65X | c.193C>T | Exon 2 | 29,636,829 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q212X | c.634C>T | Exon 7 | 29,658,223 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q389X | c.1165C>T | Exon 12 | 29,673,311 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R57X | c.169C>T | Exon 2 | 29,636,805 | 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 |
| R196X | c.586C>T | Exon 6 | 29,655,663 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R198X | c.592C>T | Exon 6 | 29,655,669 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R262X | c.784C>T | Exon 8 | 29,661,313 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R341X | c.1021C>T | Exon 11 | 29,671,847 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R466X | c.1396C>T | Exon 13 | 29,674,891 | 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 |
| W41X | c.122G>A | Exon 2 | 29,636,758 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y144X | c.432C>G | Exon 4 | 29,642,270 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |