*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.
** If you have new data: please send us a re-evaluation proposal here
|
HGVS sequence name |
HGVS protein name |
Usual name* |
Classification** |
Status** |
Simple variant |
Complex alleles |
|
|
exon 6 | c.431A>G | p.(Asn144Ser) | N144S | Uncertain significance (VUS) | To be validated |
| | 2023-11-28 | | exon 6 | c.439G>A | p.(Ala147Thr) | A147T | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | | exon 9 | c.596A>G | p.(Tyr199Cys) | Y199C | Likely pathogenic | To be validated |
| | 2019-05-13 | | intron 5 | c.404+2T>C | p.(His111Phefs*10) | p.H111Ffs*10 | Not classified | To be validated |
| | 2017-05-17 | 2017-08-11 | exon 10 | c.696_698delAAG | p.(Arg233del) | p.R233del | Not classified | To be validated |
| | 2017-05-17 | 2017-08-11 |
|