Variants
F9 variants
The 44 F9 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 |
|---|---|---|---|---|---|
| A279T | c.835G>A | Exon 7 | 139,560,852 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A337P | c.1009G>C | Exon 8 | 139,561,694 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A337T | c.1009G>A | Exon 8 | 139,561,694 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A337V | c.1010C>T | Exon 8 | 139,561,695 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.88+1G>A | Intron 1 | 139,530,853 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.88+5G>T | Intron 1 | 139,530,857 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.138G>T | Exon 2 | 139,537,059 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.520+13A>G | Intron 5 | 139,548,504 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C268G | c.802T>G | Exon 7 | 139,560,819 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C268R | c.802T>C | Exon 7 | 139,560,819 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C268S | c.802T>A | Exon 7 | 139,560,819 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C268Y | c.803G>A | Exon 7 | 139,560,820 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C435G | c.1303T>G | Exon 8 | 139,561,988 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C435Y | c.1304G>A | Exon 8 | 139,561,989 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D93N | c.277G>A | Exon 3 | 139,537,386 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E66D | c.198A>T | Exon 2 | 139,537,119 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E66K | c.196G>A | Exon 2 | 139,537,117 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E66V | c.197A>T | Exon 2 | 139,537,118 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G106S | c.316G>A | Exon 4 | 139,541,114 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G412E | c.1235G>A | Exon 8 | 139,561,920 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G442A | c.1325G>C | Exon 8 | 139,562,010 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G442E | c.1325G>A | Exon 8 | 139,562,010 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G442R | c.1324G>A | Exon 8 | 139,562,009 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G442V | c.1325G>T | Exon 8 | 139,562,010 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I136T | c.407T>C | Exon 5 | 139,548,378 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L52S | c.155T>C | Exon 2 | 139,537,076 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L318F | c.952C>T | Exon 8 | 139,561,637 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L318R | c.953T>G | Exon 8 | 139,561,638 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L369P | c.1106T>C | Exon 8 | 139,561,791 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L372P | c.1115T>C | Exon 8 | 139,561,800 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P324Cfs*2 | c.969_975del | Exon 8 | 139,561,652 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R46S | c.138G>C | Exon 2 | 139,537,059 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R75Q | c.224G>A | Exon 2 | 139,537,145 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R75X | c.223C>T | Exon 2 | 139,537,144 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R191H | c.572G>A | Exon 6 | 139,551,113 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R294Q | c.881G>A | Exon 8 | 139,561,566 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R294X | c.880C>T | Exon 8 | 139,561,565 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| T29I | c.86C>T | Exon 1 | 139,530,850 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| T342M | c.1025C>T | Exon 8 | 139,561,710 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V30I | c.88G>A | Exon 1 | 139,530,852 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| V30L | c.88G>C | Exon 1 | 139,530,852 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| V174M | c.520G>A | Exon 5 | 139,548,491 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| W240X | c.720G>A | Exon 6 | 139,551,261 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W453X | c.1359G>A | Exon 8 | 139,562,044 | Pathogenic | 3 stars out of 4 reviewed by expert panel |