*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.638A>G | p.(Asn213Ser) | N213S | Uncertain significance (VUS) | To be validated |
| | 2020-05-19 | | exon 6 | c.675T>G | p.(Asn225Lys) | N225K | Pathogenic | To be validated |
| | 2019-04-08 | | exon 6 | c.666_667delGT | p.(Tyr223Serfs*2) | Y223Sfs*2 | Pathogenic | To be validated |
| | 2019-04-08 | |
|