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* If you have new data: please send us a re-evaluation proposal here
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HGVS sequence name |
HGVS protein name |
Classification * |
Status * |
Simple variant |
Complex alleles |
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| exon 1 | c.(?_1-89)_(460+1_461-1)del | p.? | Likely pathogenic | Not validated |
| | 2019-01-22 | | exon 2 | c.52G>C | p.(Ala18Pro) | Likely pathogenic | Not validated |
| | 2019-01-22 | | exon 2 | c.121_122del | p.(Leu41Glufs*7) | Not classified | Not validated |
| | 2013-04-15 | | exon 4 | c.456+1G>C | p.? | Likely pathogenic | Not validated |
| | 2019-01-22 | | exon 5 | c.497del | p.(Gly166Alafs*110) | Likely pathogenic | Not validated |
| | 2019-01-22 | | exon 5 | c.553C>T | p.(Gln185*) | Not classified | Not validated |
| | 2013-04-15 | | exon 6 | c.697_703dup | p.(Glu235Glyfs*67) | Likely pathogenic | Not validated |
| | 2019-01-22 | | exon 6 | c.722del | p.(Ala241Glyfs*35) | Likely pathogenic | Not validated |
| | 2019-01-22 | | exon 6 | c.724_727dup | p.(Glu243Glyfs*58) | Likely pathogenic | Not validated |
| | 2019-01-22 | | exon 6 | c.727G>T | p.(Glu243*) | Likely pathogenic | Not validated |
| | 2019-01-22 | | exon 7 | c.790C>T | p.(Gln264*) | Likely pathogenic | Not validated |
| | 2019-01-22 | | exon 7 | c.896_899del | p.(Glu299Valfs*46) | Likely pathogenic | Not validated |
| | 2019-01-22 | | intron 7 | c.917+3_917+4insG | p.? | Likely pathogenic | Not validated |
| | 2019-01-22 | | exon 9 | c.1054C>T | p.(Arg352*) | Likely pathogenic | Not validated |
| | 2019-01-22 | | exon 9 | c.1160A>G | p.(Asn387Ser) | Likely pathogenic | Not validated |
| | 2019-01-22 |
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