*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
|
HGVS sequence name |
HGVS protein name |
Usual name* |
Classification** |
Status** |
Simple variant |
Complex alleles |
|
|
exon 2 | c.220A>T | p.(Thr74Ser) | T74S | Likely benign | To be validated |
| | 2012-09-05 | 2022-01-24 | exon 3 | c.349A>G | p.(Met117Val) | M117V | Pathogenic | To be validated |
| | 2013-05-30 | 2022-01-19 | exon 2 | c.221C>T | p.(Thr74Ile) | T74I | Likely pathogenic | To be validated |
| | 2021-02-17 | 2021-05-06 | exon 3 | c.367G>A | p.(Asp123Asn) | D123N | Likely pathogenic | To be validated |
| | 2020-08-28 | 2020-10-30 | exon 3 | c.385C>T | p.(Arg129Cys) | R129C | Likely pathogenic | To be validated |
| | 2020-08-28 | 2020-10-30 | exon 2 | c.274G>A | p.(Ala92Thr) | A92T | Pathogenic | To be validated |
| | 2015-01-05 | 2019-05-21 | exon 2 | c.280G>C | p.(Ala94Pro) | A94P | Pathogenic | To be validated |
| | 2018-02-22 | 2019-05-21 | exon 3 | c.405C>A | p.(Cys135*) | C135X | Pathogenic | To be validated |
| | 2011-10-02 | 2019-05-21 | exon 2 | c.240C>G | p.(Phe80Leu) | F80L | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | 2019-05-21 | exon 5 | c.602G>T | p.(Gly201Val) | G201V | Pathogenic | To be validated |
| | 2011-09-05 | 2019-05-21 | exon 1 | c.22G>A | p.(Gly8Arg) | G8R | Benign | To be validated |
| | 2014-12-18 | 2019-05-21 | exon 3 | c.313A>C | p.(Lys105Gln) | K105Q | Likely pathogenic | To be validated |
| | 2016-02-12 | 2019-05-21 | exon 1 | c.145C>A | p.(Gln49Lys) | Q49K | Benign | To be validated |
| | 2013-07-01 | 2019-05-21 | exon 2 | c.271C>T | p.(Arg91Trp) | R91W | Likely pathogenic | To be validated |
| | 2018-03-19 | 2019-05-21 | exon 2 | c.224C>T | p.(Thr75Met) | T75M | Pathogenic | To be validated |
| | 2011-09-05 | 2019-05-21 | exon 5 | c.701A>G | p.(Tyr234Cys) | Y234C | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | 2019-05-21 | 3UT | c.*20G>C | p.? | *20G>C | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | | 3UT | c.*8G>A | p.? | *8G>A | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | | exon 3 | c.374A>C | p.(Gln125Pro) | Q125P | Pathogenic | To be validated |
| | 2019-05-21 | |
|