|
*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 |
Classification * |
Status * |
Simple variant |
Complex alleles |
|
| exon 2 | c.65G>A | p.Arg22Gln | Uncertain significance (VOUS) | VALIDATED |
| | 2018-03-05 | | exon 2 | c.133C>T | p.Arg45* | Pathogenic | VALIDATED |
| | 2018-03-23 | | exon 2 | c.252delC | p.Trp85Glyfs*11 | Pathogenic | VALIDATED |
| | 2017-04-28 | | exon 4 | c.598del | p.Cys200Alafs*16 | Not classified | Not validated |
| | 2018-12-13 | | exon 5 | c.671delT | p.Phe224Serfs*4 | Pathogenic | VALIDATED |
| | 2017-04-28 | | exon 5 | c.680T>A | p.Leu227* | Pathogenic | VALIDATED |
| | 2017-04-28 | | exon 5 | c.728G>A | p.Cys243Tyr | Pathogenic | VALIDATED |
| | 2017-04-28 | | exon 5 | c.801del | p.Pro268Leufs*19 | Pathogenic | VALIDATED |
| | 2017-04-28 | | exon 6 | c.811C>T | p.Arg271* | Pathogenic | VALIDATED |
| | 2017-04-28 | | exon 6 | c.918C>G | p.Tyr306* | Pathogenic | VALIDATED |
| | 2017-04-28 | | exon 7 | c.1012G>T | p.Glu338* | Likely pathogenic | VALIDATED |
| | 2018-03-22 | | exon 7 | c.1108delC | p.Gln370Argfs*16 | Likely pathogenic | VALIDATED |
| | 2018-03-22 | | exon 7 | c.1249_1252del | p.Lys417Serfs*4 | Pathogenic | VALIDATED |
| | 2017-04-28 | | exon 7 | c.1345delA | p.Asn449Thrfs*28 | Pathogenic | VALIDATED |
| | 2018-03-23 | | exon 7 | c.1466_1467delTG | p.Val489Alafs*7 | Pathogenic | VALIDATED |
| | 2018-03-22 | | exon 7 | c.1760_1770del11 | p.Ala588Valfs*80 | Pathogenic | VALIDATED |
| | 2018-03-23 | | exon 7 | c.1809delG | p.Thr604Argfs*93 | Pathogenic | VALIDATED |
| | 2017-04-28 | | intron 7 | c.1906+1G>A | p.? | Pathogenic | VALIDATED |
| | 2018-03-23 | | intron 8 | c.2088+5G>C | p.? | Pathogenic | VALIDATED |
| | 2018-03-23 | | exon 9 | c.2209delC | p.Gln737Serfs*79 | Pathogenic | VALIDATED |
| | 2018-03-23 |
|
