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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 9 | c.710C>T | p.(Thr237Met) | T237M | Pathogenic | To be validated |
| | 2021-02-01 | 2024-05-27 | | exon 10 | c.830C>T | p.(Ser277Phe) | S277F | Likely pathogenic | To be validated |
| | 2024-05-03 | 2024-05-06 | | exon 11 | c.1024G>C | p.(D342H) | c.1024G>C | Uncertain significance (VUS) | To be validated |
| | 2021-02-01 | | | exon 11 | c.2770T>C | p.(S924P) | c.2770T>C | Uncertain significance (VUS) | To be validated |
| | 2021-02-01 | | | exon 9 | c.761A>G | p.(Tyr254Cys) | Y254C | Pathogenic | To be validated |
| | 2022-07-25 | |
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