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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.(?_1-89)_(460+1_461-1)del | p.? | c.ex1_ex4del | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 2 | c.52G>C | p.(Ala18Pro) | c.52G>C | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 2 | c.121_122del | p.(Leu41Glufs*7) | L41fsX7 | Not classified | To be validated |
| | 2013-04-15 | | exon 4 | c.364A>C | p.(Asn122His) | N122H | Uncertain significance (VUS) | To be validated |
| | 2019-07-16 | | exon 4 | c.456+1G>C | p.? | c.456+1G>C | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 5 | c.497del | p.(Gly166Alafs*110) | c.494delG | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 5 | c.553C>T | p.(Gln185*) | Q185X | Not classified | To be validated |
| | 2013-04-15 | | exon 6 | c.697_703dup | p.(Glu235Glyfs*67) | P190fs | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 6 | c.722del | p.(Ala241Glyfs*35) | c.722del | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 6 | c.724_727dup | p.(Glu243Glyfs*58) | c.727_728insGGCG | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 6 | c.727G>T | p.(Glu243*) | c.727G>T | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 7 | c.790C>T | p.(Gln264*) | Q222X | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 7 | c.883G>C | p.(Val295Leu) | V295L | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | | exon 7 | c.896_899del | p.(Glu299Valfs*46) | c.896_899del | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 7 | c.914G>T | p.(Cys305Phe) | C305F | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | | intron 7 | c.917+3dup | p.? | c.917+3_917+4insG | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 8 | c.956C>T | p.(Ala319Val) | A319V | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | | exon 9 | c.1054C>T | p.(Arg352*) | c.1054C>T | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 9 | c.1160A>G | p.(Asn387Ser) | c.1160A>G | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 11 | c.1409C>G | p.(Thr470Ser) | T470S | Likely pathogenic | To be validated |
| | 2019-05-13 |
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