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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 3 | c.82A>G | p.(Arg28Gly) | R28G | Pathogenic | To be validated |
| | 2025-06-10 | | | exon 3 | c.790T>C | p.(Tyr264His) | Y264H | Pathogenic | To be validated |
| | 2025-06-10 | | | exon 3 | c.800C>T | p.(Pro267Leu) | P267L | Pathogenic | To be validated |
| | 2025-06-10 | | | exon 3 | c.1303C>T | p.(Pro435Ser) | P435S | Likely pathogenic | To be validated |
| | 2025-07-29 | | | exon 3 | c.1517T>C | p.(Phe506Ser) | F506S | Pathogenic | To be validated |
| | 2025-08-04 | | | exon 3 | c.1520T>C | p.(Phe507Ser) | F507S | Pathogenic | To be validated |
| | 2025-08-04 | | | exon 3 | c.1521T>G | p.(Phe507Leu) | F507L | Pathogenic | To be validated |
| | 2025-08-04 | | | exon 3 | c.1582C>A | p.(Leu528Ile) | L528I | Pathogenic | To be validated |
| | 2025-08-04 | | | exon 3 | c.2453G>T | p.(Gly818Val) | G818V | Pathogenic | To be validated |
| | 2025-08-04 | |
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