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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 1 | c.119A>G | p.(Gln40Arg) | Q40R | Not classified | To be validated |
| | 2019-05-13 | | | exon 2 | c.209T>C | p.(Ile70Thr) | I70T | Uncertain significance (VUS) | To be validated |
| | 2022-02-21 | | | exon 3 | c.244G>A | p.(Val82Ile) | V82I | Likely pathogenic | To be validated |
| | 2022-08-10 | 2022-08-10 | | exon 3 | c.258G>A | p.(Met86Ile) | M86I | Likely pathogenic | To be validated |
| | 2022-02-21 | | | exon 4 | c.345G>T | p.(Gln115His) | Q115H | Uncertain significance (VUS) | To be validated |
| | 2022-02-21 | | | exon 4 | c.384_395dup | p.(Leu131_Arg132insSerCysAlaLeu) | p.Leu131_ Arg132insLeuCysThrGlu | Likely pathogenic | To be validated |
| | 2022-08-10 | 2022-08-10 | | exon 4 | c.386G>C | p.(Cys129Ser) | C129S | Likely pathogenic | To be validated |
| | 2023-03-29 | | | exon 5 | c.500G>C | p.(Trp167Ser) | W167S | Likely pathogenic | To be validated |
| | 2022-02-21 | | | exon 5 | c.517del | p.(Gly174Aspfs*2) | G174Dfs*2 | Not classified | To be validated |
| | 2017-04-28 | 2019-02-28 | | exon 6 | c.606G>C | p.(Leu202Phe) | L202F | Not classified | To be validated |
| | 2019-05-13 | 2019-05-14 | | exon 6 | c.731A>G | p.(Tyr244Cys) | Y244C | Not classified | To be validated |
| | 2017-04-28 | | | exon 6 | c.815T>C | p.(Leu272Pro) | L272P | Not classified | To be validated |
| | 2017-04-28 | | | exon 6 | c.841G>A | p.(Gly281Arg) | G281R | Likely pathogenic | To be validated |
| | 2022-08-17 | | | intron 6 | c.864+2T>C | p.? | c.864+2T>C | Likely pathogenic | To be validated |
| | 2019-02-26 | |
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