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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 2 | c.3G>A | p.? | c.3G>A | Pathogenic | To be validated |
| | 2019-01-21 | 2020-04-17 | | exon 2 | c.56dup | p.(Asn19Lysfs*31) | c.56_57insA | Likely pathogenic | To be validated |
| | 2024-08-07 | | | exon 2 | c.128_129del | p.(Cys43Tyrfs*6) | C43fs | Pathogenic | To be validated |
| | 2019-01-21 | 2022-01-24 | | exon 2 | c.372del | p.(Asp125Metfs*12) | c.372del | Likely pathogenic | To be validated |
| | 2019-02-08 | | | exon 3 | c.584C>T | p.(Thr195Ile) | T195I | Likely pathogenic | To be validated |
| | 2019-01-21 | 2021-02-23 | | exon 4 | c.760A>G | p.(Ile254Val) | I254V | Benign | To be validated |
| | 2021-12-17 | 2022-01-18 | | exon 4 | c.827del | p.(Thr276Lysfs*2) | T276fs | Pathogenic | To be validated |
| | 2019-01-21 | 2021-02-23 | | exon 4 | c.832G>C | p.(Ala278Pro) | A278P | Likely pathogenic | To be validated |
| | 2021-02-12 | | | exon 4 | c.850T>C | p.(Cys284Arg) | C284R | Likely pathogenic | To be validated |
| | 2019-01-21 | 2021-02-12 | | exon 5 | c.988_990del | p.(Ile330del) | I330del | Likely pathogenic | To be validated |
| | 2019-01-21 | 2019-01-21 | | exon 5 | c.1042G>T | p.(Glu348*) | p.Glu348Ter | Pathogenic | To be validated |
| | 2021-02-12 | | | exon 5 | c.1097C>G | p.(Ser366Ter) | S366* | Likely pathogenic | To be validated |
| | 2024-08-07 | | | exon 5 | c.1109G>A | p.(Cys370Tyr) | C370Y | Uncertain significance (VUS) | To be validated |
| | 2021-12-17 | 2022-01-18 | | exon 6 | c.1240C>T | p.(Arg414*) | R414X | Pathogenic | To be validated |
| | 2019-01-21 | 2021-02-23 |
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