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*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
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HGVS sequence name |
HGVS protein name |
Usual name* |
Classification** |
Status** |
Simple variant |
Complex alleles |
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| exon 5 | c.2626delA | p.(Ile876Leufs*15) | I876Lfs*15 | Likely pathogenic | To be validated |
| | 2020-02-17 | | | exon 5 | c.2633delA | p.(Lys878Serfs*13) | K878Sfs*13 | Likely pathogenic | To be validated |
| | 2020-02-17 | 2021-11-08 | | exon 5 | c.2640C>A | p.(His880Gln) | H880Q | Not classified | To be validated |
| | 2021-08-26 | | | exon 5 | c.2654del | p.(Asn885Thrfs*6) | N885Tfs*6 | Likely pathogenic | To be validated |
| | 2021-08-26 | | | exon 5 | c.2658_2659delTT | p.(Phe886Leufs*11) | F886Lfs*11 | Likely pathogenic | To be validated |
| | 2020-02-17 | 2022-04-05 | | exon 5 | c.2666delT | p.(Phe889Serfs*2) | F889Sfs*2 | Likely pathogenic | To be validated |
| | 2020-02-17 | | | exon 5 | c.2672T>C | p.(Ile891Thr) | I891T | Likely pathogenic | To be validated |
| | 2021-08-26 | | | exon 5 | c.2804_2805del | p.(Ser935Tyrfs*8) | p.S935Yfs*8 | Likely pathogenic | To be validated |
| | 2023-08-18 | | | exon 5 | c.2956C>T | p.(Arg986Cys) | R986C | Likely pathogenic | To be validated |
| | 2021-08-26 | | | exon 5 | c.2957G>A | p.(Arg986His) | R986H | Not classified | To be validated |
| | 2021-08-26 | | | exon 5 | c.3842G>A | p.(Arg1281Lys) | R1281K | Not classified | To be validated |
| | 2021-08-26 | | | exon 5 | c.4418G>A | p.(Ser1473Asn) | S1473N | Not classified | To be validated |
| | 2021-08-26 | | | exon 5 | c.4534G>A | p.(Val1512Met) | V1512M | Not classified | To be validated |
| | 2021-08-26 | | | exon 5 | c.4535T>C | p.(Val1512Ala) | V1512A | Not classified | To be validated |
| | 2021-08-26 | |
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