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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 4 | c.460-133_689-244del | p.? | DELexon5 | Pathogenic | To be validated |
| | 2020-01-31 | 2022-01-18 | | exon 5 | c.541G>A | p.(Gly181Ser) | G181S | Uncertain significance (VUS) | To be validated |
| | 2024-09-02 | | | exon 5 | c.636C>G | p.(Tyr212*) | Y212* | Pathogenic | To be validated |
| | 2022-04-06 | | | exon 5 | c.688_688+20delAGTAAGGCATTACTTACTTTC | p.Asn230Hisfs*15 | c.688_688+20del | Pathogenic | To be validated |
| | 2020-01-30 | 2022-04-06 | | exon 7 | c.867_870delTTTA | p.(Tyr289*) | Y289* | Pathogenic | To be validated |
| | 2020-01-29 | 2022-01-18 | | exon 8 | c.954delG | p.(Met318Ilefs*194) | M318fs | Pathogenic | To be validated |
| | 2020-01-29 | 2022-01-18 | | exon 8 | c.962T>G | p.(Leu321Arg) | L321R | Likely pathogenic | To be validated |
| | 2022-06-24 | | | exon 8 | c.970G>C | p.(Asp324His) | D324H | Pathogenic | To be validated |
| | 2020-01-27 | 2022-01-18 | | exon 8 | c.970G>A | p.(Asp324Asn) | D324N | Pathogenic | To be validated |
| | 2020-01-27 | 2022-01-18 | | exon 8 | c.970G>T | p.(Asp324Tyr) | D324Y | Pathogenic | To be validated |
| | 2020-01-27 | 2022-01-18 | | exon 8 | c.971A>G | p.(Asp324Gly) | D324G | Likely pathogenic | To be validated |
| | 2022-06-24 | | | exon 8 | c.971A>T | p.(Asp324Val) | D324V | Pathogenic | To be validated |
| | 2020-01-27 | 2022-01-18 | | exon 8 | c.973T>C | p.(Cys325Arg) | C325R | Uncertain significance (VUS) | To be validated |
| | 2020-06-05 | | | exon 8 | c.998C>A | p.(Ser333*) | S333* | Pathogenic | To be validated |
| | 2022-04-06 | | | exon 9 | c.1129A>G | p.(Lys377Glu) | K377E | Pathogenic | To be validated |
| | 2024-04-02 | | | exon 9 | c.1168C>G | p.(Arg390Gly) | R390G | Pathogenic | To be validated |
| | 2024-04-02 | 2024-04-04 | | exon 9 | c.1278C>A | p.(Tyr426*) | Y426* | Pathogenic | To be validated |
| | 2020-01-29 | 2022-01-18 | | exon 11 | c.1802G>A | p.(Cys601Tyr) | C601Y | Pathogenic | To be validated |
| | 2020-01-29 | 2022-01-18 | | exon 11 | c.1844T>C | p.(Ile615Thr) | I615T | Pathogenic | To be validated |
| | 2020-01-29 | 2022-01-18 | | exon 11 | c.1934C>T | p.(Thr645Met) | T645M | Pathogenic | To be validated |
| | 2020-01-29 | 2022-01-18 |
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