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