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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 |
|
| exon 2 | c.42del | p.(Ser15Profs*86) | Likely pathogenic | Not validated |
| | 2019-01-22 | | exon 2 | c.243del | p.(Lys81Asnfs*20) | Pathogenic | Not validated |
| | 2019-01-22 | | intron 2 | c.300+1G>C | p.Asn101Leufs*34 | Not classified | Not validated |
| | 2014-07-24 | | intron 2 | c.300+1G>A | p.? | Likely pathogenic | Not validated |
| | 2019-01-22 | | intron 2 | c.300+2T>G | p.? | Likely pathogenic | Not validated |
| | 2019-01-22 | | exon 3 | c.303_319dup | p.(Leu107Profs*39) | Likely pathogenic | Not validated |
| | 2019-01-22 | | exon 3 | c.308_309del | p.(Phe103*) | Likely pathogenic | Not validated |
| | 2019-01-22 | | exon 3 | c.347T>G | p.(Met116Arg) | Likely pathogenic | Not validated |
| | 2019-01-22 | | exon 4 | c.400C>T | p.(Arg134Cys) | Likely pathogenic | Not validated |
| | 2019-01-22 | | exon 4 | c.401G>A | p.(Arg134His) | Likely pathogenic | Not validated |
| | 2019-01-22 | | exon 4 | c.607T>C | p.(Ser203Pro) | Likely pathogenic | Not validated |
| | 2019-01-22 | | intron 4 | c.610+1G>C | p.? | Likely pathogenic | Not validated |
| | 2019-01-22 | | exon 5 | c.625G>A | p.(Gly209Arg) | Likely pathogenic | Not validated |
| | 2019-01-22 | | intron 5 | c.774-2A>G | p.? | Likely pathogenic | Not validated |
| | 2019-01-21 | | exon 6 | c.933T>A | p.(Cys311*) | Likely pathogenic | Not validated |
| | 2019-01-22 | | exon 6 | c.940del | p.(Tyr314Thrfs*91) | Likely pathogenic | Not validated |
| | 2019-01-22 | | exon 6 | c.946T>G | p.Phe316Val | Not classified | Not validated |
| | 2015-12-04 | | exon 6 | c.971C>T | p.(Pro324Leu) | Likely pathogenic | Not validated |
| | 2019-01-22 | | exon 6 | c.1045del | p.(Leu349Serfs*56) | Likely pathogenic | Not validated |
| | 2019-01-22 | | exon 6 | c.1087C>T | p.(Arg363Trp) | Likely pathogenic | Not validated |
| | 2019-01-22 | | exon 6 | c.1088G>A | p.Arg363Gln | Not classified | Not validated |
| | 2014-07-24 | | exon 6 | c.1157G>A | p.(Arg386Gln) | Likely pathogenic | Not validated |
| | 2019-01-22 | | exon 6 | c.1172C>A | p.(Pro391His) | Likely pathogenic | Not validated |
| | 2019-01-22 | | exon 6 | c.1269_1270delinsT | p.Leu424Serfs*29 | Not classified | Not validated |
| | 2015-05-16 | | exon 6 | c.1269_1270delinsA | p.(Leu424Serfs*29) | Likely pathogenic | Not validated |
| | 2019-01-22 | | exon 6 | c.1279G>A | p.(Gly427Ser) | Pathogenic | Not validated |
| | 2019-01-21 | | exon 6 | c.1309G>A | p.(Gly437Arg) | Pathogenic | Not validated |
| | 2019-01-22 | | exon 6 | c.1330G>T | p.(Glu444*) | Likely pathogenic | Not validated |
| | 2019-01-22 | | exon 6 | c.1339G>A | p.(Glu447Lys) | Likely pathogenic | Not validated |
| | 2019-01-22 | | exon 6 | c.1346C>G | p.(Thr449Arg) | Likely pathogenic | Not validated |
| | 2019-01-22 |
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