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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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| 5 flanking | c.-45A>G | p.(?) | c.-45A>G | Likely pathogenic | To be validated |
| | 2020-04-02 | 2020-06-09 | | exon 1 | c.14C>T | p.(Ala5Val) | A5V | Not classified | To be validated |
| | 2014-07-24 | | | exon 1 | c.74A>T | p.(Gln25Leu) | Q25L | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | 2023-12-06 | | exon 4 | c.385C>T | p.(Arg129Cys) | R129C | Likely pathogenic | To be validated |
| | 2021-01-11 | | | exon 4 | c.414_427+7del | p.0 | p.A139Wfs*19 and p.E132Dfs*19 | Likely pathogenic | To be validated |
| | 2021-01-11 | | | exon 4 | c.421C>T | p.(His141Tyr) | H141Y | Benign | To be validated |
| | 2019-07-16 | | | intron 6 | c.616+3A>G | p.(Asn174Lysfs*31) | delExon6 | Not classified | To be validated |
| | 2018-03-26 | | | exon 7 | c.718A>G | p.(Lys240Glu) | K240E | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | 2019-05-14 | | exon 9 | c.784G>T | p.(Glu262*) | E262* | Likely pathogenic | To be validated |
| | 2019-07-11 | | | exon 9 | c.947G>A | p.(Gly316Asp) | G316D | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | | | exon 9 | c.1140G>A | p.(Val380=) | V380V | Not classified | To be validated |
| | 2019-05-13 | | | exon 9 | c.1245del | p.(Met416Cysfs*110) | M416Cfs*110 | Not classified | To be validated |
| | 2014-07-24 | | | exon 9 | c.1279G>A | p.(Asp427Asn) | D427N | Not classified | To be validated |
| | 2015-12-04 | 2018-11-19 | | exon 9 | c.1348C>T | p.(Arg450Trp) | R450W | Not classified | To be validated |
| | 2019-05-13 | | | exon 9 | c.1397G>A | p.(Arg466His) | R466H | Likely benign | To be validated |
| | 2019-07-16 | | | exon 9 | c.1519G>A | p.(Ala507Thr) | A507T | Likely benign | To be validated |
| | 2019-07-16 | | | exon 10 | c.1618A>G | p.(Met540Val) | M540V | Not classified | To be validated |
| | 2019-05-13 | | | exon 10 | c.1626C>A | p.(Phe542Leu) | F542L | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | 2019-05-14 | | exon 10 | c.1664del | p.(Ser555Cysfs*121) | S555Cfs*121 | Likely pathogenic | To be validated |
| | 2021-01-11 | | | exon 10 | c.1703G>A | p.(Arg568His) | R568H | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | | | exon 10 | c.1829A>G | p.(Glu610Gly) | E610G | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | |
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