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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.7G>T | p.(Glu3Ter) | E3* | Pathogenic | To be validated |
| | 2025-12-29 | | | intron 6 | c.559+1G>A | p.Thr164Profs*12 | c.559+1G>A | Pathogenic | To be validated |
| | 2021-09-20 | | | exon 8 | c.736C>T | p.(Arg246*) | R246* | Likely pathogenic | To be validated |
| | 2021-09-20 | | | exon 8 | c.748A>G | p.(Ile250Val) | I250V | Uncertain significance (VUS) | To be validated |
| | 2025-12-29 | | | exon 8 | c.871G>A | p.(Asp291Asn) | D291N | Likely benign | To be validated |
| | 2025-12-29 | | | exon 9 | c.884G>A | p.(Arg295His) | R295H | Likely benign | To be validated |
| | 2025-12-29 | | | intron 9 | c.959-1G>A | p.? | c.959-1G>A | Likely pathogenic | To be validated |
| | 2023-02-07 | | | exon 10 | c.961C>G | p.(Pro321Ala) | P321A | Uncertain significance (VUS) | To be validated |
| | 2025-12-29 | | | exon 10 | c.985C>T | p.(Arg329*) | R329* | Pathogenic | To be validated |
| | 2023-03-02 | | | exon 10 | c.989G>A | p.(Arg330His) | R330H | Uncertain significance (VUS) | To be validated |
| | 2025-12-29 | | | intron 10 | c.1034-1G>A | p.? | c.1034-1G>A | Likely pathogenic | To be validated |
| | 2024-03-06 | | | exon 11 | c.1039C>T | p.(Gln347Ter) | Q347* | Likely pathogenic | To be validated |
| | 2025-07-09 | | | exon 11 | c.1047T>A | p.(Tyr349*) | p.Y349* | Pathogenic | To be validated |
| | 2024-03-06 | | | exon 11 | c.1124_1140del | p.(Gln375ProfsTer66) | Q375Pfs*66 | Likely pathogenic | To be validated |
| | 2025-04-23 | | | exon 11 | c.1153C>T | p.(Gln385*) | Q385* | Pathogenic | To be validated |
| | 2023-03-02 | | | exon 11 | c.1165C>T | p.(Gln389*) | Q389* | Likely pathogenic | To be validated |
| | 2023-04-24 | | | exon 11 | c.1227del | p.(Val410Serfs*4) | V410Sfs*4 | Likely pathogenic | To be validated |
| | 2021-09-20 | | | exon 11 | c.1303dup | p.(Thr435Asnfs*12) | p.Thr435fs | Likely pathogenic | To be validated |
| | 2026-02-25 | | | exon 11 | c.1311dup | p.(Glu438Argfs*9) | E438Rfs*9 | Likely pathogenic | To be validated |
| | 2023-03-02 | 2023-03-02 | | exon 11 | c.1391_1392del | p.(Thr464Argfs*26) | T464Rfs*26 | Likely pathogenic | To be validated |
| | 2021-09-20 | 2021-10-07 | | exon 11 | c.1392del | p.(Asp465ThrfsTer14) | p.(Asp465ThrfsTer14) | Pathogenic | To be validated |
| | 2026-03-12 | | | exon 11 | c.1416dup | p.(Glu473Argfs*18) | p.E473Rfs*18 | Pathogenic | To be validated |
| | 2024-03-06 | | | exon 11 | c.1459del | p.(His487Thrfs*7) | H487Tfs*7 | Pathogenic | To be validated |
| | 2021-09-20 | 2021-10-06 | | exon 11 | c.1483del | p.(Glu495SerfsTer6) | p.(Glu495SerfsTer6) | Likely pathogenic | To be validated |
| | 2026-03-12 | | | exon 11 | c.1534G>A | p.(Asp512Asn) | D512N | Uncertain significance (VUS) | To be validated |
| | 2025-12-29 | |
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