|
*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.
*This classification is proposed by I Ceccherini, D Rowczenio, Y Shinar, I Touitou, M van Gijn. 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 |
|
| 5 flanking | c.0 | p.0 | del(6)(q23.2q24.1) | Likely pathogenic | To be validated |
| | 2019-03-04 | | exon 2 | c.65G>A | p.(Arg22Gln) | R22Q | Uncertain significance (VOUS) | VALIDATED |
| | 2018-03-05 | | exon 2 | c.133C>T | p.(Arg45*) | R45X | Pathogenic | VALIDATED |
| | 2018-03-23 | | exon 2 | c.252delC | p.(Trp85Glyfs*11) | p.W85GfsX11 | Pathogenic | VALIDATED |
| | 2017-04-28 | | exon 2 | c.271A>T | p.(Lys91*) | K91* | Likely benign | To be validated |
| | 2019-03-04 | | intron 2 | c.296-2A>G | - | 296-2A>G | Not classified | To be validated |
| | 2019-03-05 | | exon 3 | c.405_406delAC | p.(Arg136Glnfs*3) | D134fs | Not classified | To be validated |
| | 2019-03-05 | | exon 3 | c.421C>T | p.(Arg141Cys) | R141C | Uncertain significance (VOUS) | To be validated |
| | 2019-05-13 | | exon 3 | c.464C>T | p.(Thr155Met) | T155M | Likely pathogenic | To be validated |
| | 2019-03-18 | | exon 4 | c.598del | p.(Cys200Alafs*16) | C596_598 del A | Not classified | To be validated |
| | 2018-12-13 | | exon 5 | c.671delT | p.(Phe224Serfs*4) | p.F224Sfs*4 | Pathogenic | VALIDATED |
| | 2017-04-28 | | exon 5 | c.680T>A | p.(Leu227*) | p.L227* | Pathogenic | VALIDATED |
| | 2017-04-28 | | exon 5 | c.728G>A | p.(Cys243Tyr) | C243Y | Pathogenic | VALIDATED |
| | 2017-04-28 | | exon 5 | c.756_770del | p.(Asp253_Phe257del) | D253_F257DEL | Not classified | To be validated |
| | 2019-05-13 | | exon 5 | c.801del | p.(Pro268Leufs*19) | p.P268Lfs*19 | Pathogenic | VALIDATED |
| | 2017-04-28 | | exon 6 | c.811C>T | p.(Arg271*) | p.R271* | Pathogenic | VALIDATED |
| | 2017-04-28 | | exon 6 | c.874A>C | p.(Thr292Pro) | T292P | Uncertain significance (VOUS) | To be validated |
| | 2019-05-13 | | exon 6 | c.918C>G | p.(Tyr306*) | p.Y306* | Pathogenic | VALIDATED |
| | 2017-04-28 | | exon 7 | c.1005dup | p.(Pro336Thrfs*9) | P336fs | Not classified | To be validated |
| | 2019-03-05 | | exon 7 | c.1012G>T | p.(Glu338*) | E338* | Likely pathogenic | VALIDATED |
| | 2018-03-22 | | exon 7 | c.1108delC | p.(Gln370Argfs*16) | Q370Rfs*16 | Likely pathogenic | VALIDATED |
| | 2018-03-22 | | exon 7 | c.1151A>G | p.(Asp384Gly) | D384G | Uncertain significance (VOUS) | To be validated |
| | 2019-05-13 | | exon 7 | c.1249_1252del | p.(Lys417Serfs*4) | Q415fs | Pathogenic | VALIDATED |
| | 2017-04-28 | | exon 7 | c.1344G>C | p.(Trp448Cys) | W448C | Likely pathogenic | To be validated |
| | 2019-05-13 | | exon 7 | c.1345delA | p.(Asn449Thrfs*28) | N449Tfs*28 | Pathogenic | VALIDATED |
| | 2018-03-23 | | exon 7 | c.1428G>A | p.(Met476Ile) | M476I | Not classified | To be validated |
| | 2019-03-01 | | exon 7 | c.1434C>A | p.(Cys478*) | C478* | Not classified | To be validated |
| | 2019-06-13 | | exon 7 | c.1466_1467delTG | p.(Val489Alafs*7) | V489Afs*7 | Pathogenic | VALIDATED |
| | 2018-03-22 | | exon 7 | c.1760_1770del11 | p.(Ala588Valfs*80) | A588Vfs*80 | Pathogenic | VALIDATED |
| | 2018-03-23 | | exon 7 | c.1809delG | p.(Thr604Argfs*93) | p.T604Rfs*93 | Pathogenic | VALIDATED |
| | 2017-04-28 | | exon 7 | c.1906C>T | p.(His636Ter) | p.His636fsTer1 | Likely pathogenic | To be validated |
| | 2019-03-04 | | intron 7 | c.1906+1G>A | p.? | F637E*2 | Pathogenic | VALIDATED |
| | 2018-03-23 | | exon 8 | c.1939A>C | p.(Thr647Pro) | T647P | Likely pathogenic | To be validated |
| | 2019-06-12 | | exon 8 | c.2036T>C | p.(Ile679Thr) | I679T | Uncertain significance (VOUS) | To be validated |
| | 2019-05-13 | | intron 8 | c.2088+5G>C | p.? | H636Efs55 | Pathogenic | VALIDATED |
| | 2018-03-23 | | exon 9 | c.2209delC | p.(Gln737Serfs*79) | Q737Sfs*79 | Pathogenic | VALIDATED |
| | 2018-03-23 |
|
