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