Variants
F8 variants
The 54 F8 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 |
|---|---|---|---|---|---|
| A111T | c.331G>A | Exon 3 | 154,997,030 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A415D | c.1244C>A | Exon 8 | 154,966,453 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A415V | c.1244C>T | Exon 8 | 154,966,453 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A2220P | c.6658G>C | Exon 24 | 154,861,783 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.1420G>C | Exon 9 | 154,965,993 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5217C>T | Exon 14 | 154,928,573 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.6429+2T>A | Intron 22 | 154,896,075 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C2345R | c.7033T>C | Exon 26 | 154,837,620 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E200G | c.599A>G | Exon 4 | 154,992,938 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E739K | c.2215G>A | Exon 14 | 154,931,575 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E1830X | c.5488G>T | Exon 16 | 154,904,909 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E2341K | c.7021G>A | Exon 26 | 154,837,632 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F328L | c.984T>G | Exon 7 | 154,969,356 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G474E | c.1421G>A | Exon 9 | 154,965,992 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G474R | c.1420G>A | Exon 9 | 154,965,993 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G474W | c.1420G>T | Exon 9 | 154,965,993 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G1729E | c.5186G>A | Exon 14 | 154,928,604 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G2102D | c.6305G>A | Exon 22 | 154,896,201 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I405S | c.1214T>G | Exon 8 | 154,966,483 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I405T | c.1214T>C | Exon 8 | 154,966,483 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I567Mfs*12 | c.1701del | Exon 11 | 154,957,007 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I1213Ffs*5 | c.3637del | Exon 14 | 154,930,152 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I1374Tfs*49 | c.4121_4124del | Exon 14 | 154,929,665 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K108T | c.323A>C | Exon 3 | 154,997,038 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L327P | c.980T>C | Exon 7 | 154,969,360 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L327Q | c.980T>A | Exon 7 | 154,969,360 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L327V | c.979C>G | Exon 7 | 154,969,361 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L2181H | c.6542T>A | Exon 23 | 154,863,115 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| M633I | c.1899G>T | Exon 12 | 154,953,896 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N713I | c.2138A>T | Exon 14 | 154,931,652 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| N1941S | c.5822A>G | Exon 18 | 154,904,082 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q2208E | c.6622C>G | Exon 24 | 154,861,819 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q2208R | c.6623A>G | Exon 24 | 154,861,818 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R355X | c.1063C>T | Exon 8 | 154,966,634 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R458C | c.1372C>T | Exon 9 | 154,966,041 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R550H | c.1649G>A | Exon 11 | 154,957,060 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R602X | c.1804C>T | Exon 12 | 154,953,991 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R612C | c.1834C>T | Exon 12 | 154,953,961 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1768H | c.5303G>A | Exon 15 | 154,906,490 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1800H | c.5399G>A | Exon 16 | 154,904,998 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R2016W | c.6046C>T | Exon 19 | 154,902,120 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R2326X | c.6976C>T | Exon 26 | 154,837,677 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R2339W | c.7015A>T | Exon 26 | 154,837,638 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S229X | c.686C>A | Exon 6 | 154,984,788 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S308L | c.923C>T | Exon 7 | 154,969,417 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S308W | c.923C>G | Exon 7 | 154,969,417 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S554G | c.1660A>G | Exon 11 | 154,957,049 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| T137A | c.409A>G | Exon 4 | 154,993,128 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| T696I | c.2087C>T | Exon 13 | 154,947,724 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V2251A | c.6752T>C | Exon 25 | 154,860,580 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W2248C | c.6744G>T | Exon 25 | 154,860,588 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y256N | c.766T>A | Exon 6 | 154,984,708 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y365C | c.1094A>G | Exon 8 | 154,966,603 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y605C | c.1814A>G | Exon 12 | 154,953,981 | Pathogenic | 3 stars out of 4 reviewed by expert panel |