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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 2 | c.94G>A | p.(Val32Ile) | V32I | Uncertain significance (VUS) | To be validated |
| | 2019-07-16 | | | intron 2 | c.128+1G>A | p.? | 128+1G>A | Likely pathogenic | To be validated |
| | 2019-05-13 | | | exon 3 | c.178C>T | p.(Arg60Cys) | R60C | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | | | exon 5 | c.467G>A | p.(Gly156Asp) | G156D | Likely pathogenic | To be validated |
| | 2021-05-27 | 2021-11-27 | | exon 5 | c.494G>A | p.(Gly165Asp) | G165D | Not classified | To be validated |
| | 2017-05-17 | 2021-02-01 | | exon 5 | c.517C>T | p.(Arg173Cys) | R173C | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | |
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