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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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| intron 2 | c.118-9_118-2del | p.? | c.118-9_118-2del | Pathogenic | To be validated |
| | 2022-01-10 | 2022-01-10 | | intron 2 | c.118-3T>A | p.? | c.118-3T>A | Uncertain significance (VUS) | To be validated |
| | 2022-09-19 | | | intron 2 | c.118-2A>G | p.? | c.118-2A>G | Pathogenic | To be validated |
| | 2022-09-19 | | | intron 2 | c.118-2A>T | p.? | c.118-2A>T | Likely pathogenic | To be validated |
| | 2022-09-19 | | | exon 3 | c.118-1G>C | p.Gly40_Lys43del | c.118-1G>C | Pathogenic | To be validated |
| | 2021-04-15 | 2021-11-09 | | exon 3 | c.119G>C | p.(Gly40Ala) | G40A | Uncertain significance (VUS) | To be validated |
| | 2022-09-27 | | | exon 3 | c.121A>C | p.Met41Leu | M41L | Pathogenic | To be validated |
| | 2020-11-18 | 2021-03-31 | | exon 3 | c.121A>T | p.(Met41Leu) | M41L_A>T | Not classified | To be validated |
| | 2023-03-03 | | | exon 3 | c.121A>G | p.Met41Val | M41V | Pathogenic | To be validated |
| | 2020-11-18 | 2021-03-31 | | exon 3 | c.122T>C | p.Met41Thr | M41T | Pathogenic | To be validated |
| | 2020-11-18 | 2021-03-31 | | exon 3 | c.163T>C | p.Tyr55His | Y55H | Pathogenic | To be validated |
| | 2024-05-27 | | | exon 3 | c.167C>T | p.(Ser56Phe) | S56F | Likely pathogenic | To be validated |
| | 2021-05-27 | 2021-11-24 | | intron 4 | c.346-2A>G | p.116Phe_120Glu | c.346-2A>G | Likely pathogenic | To be validated |
| | 2024-04-02 | | | exon 8 | c.683A>G | p.(Asn228Ser) | N228S | Uncertain significance (VUS) | To be validated |
| | 2024-07-30 | | | exon 8 | c.698C>T | p.(Thr233Ile) | T233I | Uncertain significance (VUS) | To be validated |
| | 2023-11-27 | | | exon 14 | c.1430G>C | p.(Gly477Ala) | G477A | Likely pathogenic | To be validated |
| | 2023-02-12 | | | exon 14 | c.1432G>T | p.Ala478Ser | A478S | Pathogenic | To be validated |
| | 2024-05-27 | | | exon 14 | c.1516G>A | p.Asp506Asn | D506N | Pathogenic | To be validated |
| | 2024-05-27 | | | exon 14 | c.1517A>G | p.Asp506Gly | D506G | Pathogenic | To be validated |
| | 2024-05-27 | | | exon 16 | c.1817A>T | p.(Asn606Ile) | N606I | Uncertain significance (VUS) | To be validated |
| | 2023-11-20 | | | exon 16 | c.1861A>T | p.(Ser621Cys) | S621C | Likely pathogenic | To be validated |
| | 2022-09-19 | 2023-02-02 | | exon 23 | c.2681T>G | p.(Ile894Ser) | I894S | Uncertain significance (VUS) | To be validated |
| | 2023-11-20 | |
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