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*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 1 | c.5T>C | p.Met2Thr | Likely benign | VALIDATED |
| | 2013-09-06 | | intron 2 | c.137+47G>C | - | Benign | VALIDATED |
| | 2011-12-22 | | exon 3 | c.155G>A | p.Arg52Gln | Uncertain significance (VOUS) | VALIDATED |
| | 2012-03-02 | | exon 3 | c.203C>T | p.Thr68Met | Not classified | To be validated |
| | 2017-01-18 | | exon 6 | c.364G>A | p.Val122Ile | Likely benign | VALIDATED |
| | 2016-11-23 | | exon 8 | c.543G>A | p.(=) | Likely benign | VALIDATED |
| | 2012-06-13 | | exon 10 | c.657A>C | p.Gln219His | Not classified | To be validated |
| | 2017-04-03 | | exon 10 | c.688G>A | p.Ala230Thr | Pathogenic | VALIDATED |
| | 2003-04-18 | | exon 10 | c.736G>A | p.Asp246Asn | Likely pathogenic | VALIDATED |
| | 2013-07-08 | | intron 10 | c.741+27G>T | - | Likely benign | VALIDATED |
| | 2013-09-12 | | intron 10 | c.741+33_741+34insGT | - | Likely benign | VALIDATED |
| | 2006-04-24 | | exon 11 | c.748G>C | p.Glu250Gln | Pathogenic | VALIDATED |
| | 2003-04-18 | | exon 11 | c.748G>A | p.Glu250Lys | Pathogenic | VALIDATED |
| | 2007-01-10 | | exon 11 | c.769G>A | p.Glu257Lys | Likely pathogenic | VALIDATED |
| | 2013-07-24 | | exon 11 | c.770A>G | p.Glu257Gly | Uncertain significance (VOUS) | PROVISIONAL |
| | 2013-09-17 | | exon 11 | c.773G>C | p.Gly258Ala | Uncertain significance (VOUS) | PROVISIONAL |
| | 2012-06-12 | | exon 11 | c.796G>A | p.Asp266Asn | Likely benign | VALIDATED |
| | 2006-05-22 | | exon 11 | c.831G>T | p.Glu277Asp | Likely benign | PROVISIONAL |
| | 2013-06-24 | | exon 12 | c.865G>C | p.Asp289His | Uncertain significance (VOUS) | VALIDATED |
| | 2016-11-23 | | exon 12 | c.915C>T | p.(=) | Benign | VALIDATED |
| | 2012-06-13 | | intron 13 | c.986-33dupA | - | Benign | VALIDATED |
| | 2011-12-22 | | exon 14 | c.1030G>A | p.Val344Ile | Uncertain significance (VOUS) | VALIDATED |
| | 2008-12-01 | | intron 14 | c.1120-44_1120-31del | - | Likely benign | VALIDATED |
| | 2013-09-06 | | exon 15 | c.1151A>G | p.Asp384Gly | Benign | VALIDATED |
| | 2015-12-04 | | exon 15 | c.1179G>A | p.(=) | Likely benign | VALIDATED |
| | 2012-06-13 | | exon 15 | c.1207G>C | p.Gly403Arg | Uncertain significance (VOUS) | VALIDATED |
| | 2015-02-17 | | exon 15 | c.1208G>A | p.Gly403Glu | Uncertain significance (VOUS) | VALIDATED |
| | 2015-12-23 | | exon 15 | c.1213C>T | p.Arg405Cys | Uncertain significance (VOUS) | VALIDATED |
| | 2014-02-19 | | 3UT | c.*156_*158del | - | Benign | VALIDATED |
| | 2012-12-10 |
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