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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
Usual name* |
|
HGVS sequence name |
HGVS protein name |
Classification * |
Status * |
Simple variant |
Complex alleles |
|
M2T | exon 1 | c.5T>C | p.(Met2Thr) | Likely benign | VALIDATED |
| | 2013-09-06 | c.137+47G>C | intron 2 | c.137+47G>C | - | Benign | VALIDATED |
| | 2011-12-22 | R52Q | exon 3 | c.155G>A | p.(Arg52Gln) | Uncertain significance (VOUS) | VALIDATED |
| | 2012-03-02 | T68M | exon 3 | c.203C>T | p.(Thr68Met) | Not classified | To be validated |
| | 2017-01-18 | V122I | exon 6 | c.364G>A | p.(Val122Ile) | Likely benign | VALIDATED |
| | 2016-11-23 | G543A | exon 8 | c.543G>A | p.(=) | Likely benign | VALIDATED |
| | 2012-06-13 | Q219H | exon 10 | c.657A>C | p.(Gln219His) | Not classified | To be validated |
| | 2017-04-03 | R228C | exon 10 | c.682C>T | p.(Arg228Cys) | Not classified | To be validated |
| | 2019-05-13 | A230T | exon 10 | c.688G>A | p.(Ala230Thr) | Pathogenic | VALIDATED |
| | 2003-04-18 | D246N | exon 10 | c.736G>A | p.(Asp246Asn) | Likely pathogenic | VALIDATED |
| | 2013-07-08 | c.741+27G>T | intron 10 | c.741+27G>T | - | Likely benign | VALIDATED |
| | 2013-09-12 | c.741+33_741+34insGT | intron 10 | c.741+33_741+34insGT | - | Likely benign | VALIDATED |
| | 2006-04-24 | E250Q | exon 11 | c.748G>C | p.(Glu250Gln) | Pathogenic | VALIDATED |
| | 2003-04-18 | E250K | exon 11 | c.748G>A | p.(Glu250Lys) | Pathogenic | VALIDATED |
| | 2007-01-10 | E257K | exon 11 | c.769G>A | p.(Glu257Lys) | Likely pathogenic | VALIDATED |
| | 2013-07-24 | E256G | exon 11 | c.770A>G | p.(Glu257Gly) | Uncertain significance (VOUS) | PROVISIONAL |
| | 2013-09-17 | G258A | exon 11 | c.773G>C | p.(Gly258Ala) | Uncertain significance (VOUS) | PROVISIONAL |
| | 2012-06-12 | D266N | exon 11 | c.796G>A | p.(Asp266Asn) | Likely benign | VALIDATED |
| | 2006-05-22 | E277D | exon 11 | c.831G>T | p.(Glu277Asp) | Likely benign | PROVISIONAL |
| | 2013-06-24 | D289H | exon 12 | c.865G>C | p.(Asp289His) | Uncertain significance (VOUS) | VALIDATED |
| | 2016-11-23 | C915T | exon 12 | c.915C>T | p.(=) | Benign | VALIDATED |
| | 2012-06-13 | c.986-33dupA | intron 13 | c.986-33dupA | - | Benign | VALIDATED |
| | 2011-12-22 | Val344Ile | exon 14 | c.1030G>A | p.(Val344Ile) | Uncertain significance (VOUS) | VALIDATED |
| | 2008-12-01 | c.1120-44_1120-31 | intron 14 | c.1120-44_1120-31del | - | Likely benign | VALIDATED |
| | 2013-09-06 | D384G | exon 15 | c.1151A>G | p.(Asp384Gly) | Benign | VALIDATED |
| | 2015-12-04 | G1179A | exon 15 | c.1179G>A | p.(=) | Likely benign | VALIDATED |
| | 2012-06-13 | G403R | exon 15 | c.1207G>C | p.(Gly403Arg) | Uncertain significance (VOUS) | VALIDATED |
| | 2015-02-17 | G403E | exon 15 | c.1208G>A | p.(Gly403Glu) | Uncertain significance (VOUS) | VALIDATED |
| | 2015-12-23 | R405C | exon 15 | c.1213C>T | p.(Arg405Cys) | Uncertain significance (VOUS) | VALIDATED |
| | 2014-02-19 | c.*156_158del | 3UT | c.*156_*158del | - | Benign | VALIDATED |
| | 2012-12-10 |
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