|
HGVS sequence name |
HGVS protein name |
Usual name* |
Classification** |
Status** |
Simple variant |
Complex alleles |
|
5UT | c.-282G>T | p.? | -282G>T | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 |
5UT | c.-187G>A | p.? | c.262G>A | Not classified | To be validated |
| | 2020-04-28 |
exon 1 | c.5T>C | p.(Met2Thr) | M2T | Likely benign | VALIDATED |
| | 2013-09-06 |
exon 2 | c.59C>T | p.(Thr20Met) | T20M | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 |
exon 2 | c.101A>C | p.(Lys34Thr) | K34T | Uncertain significance (VUS) | To be validated |
| | 2019-10-02 |
intron 2 | c.137+47G>C | p.? | c.137+47G>C | Benign | VALIDATED |
| | 2011-12-22 |
exon 3 | c.146C>T | p.(Ala49Val) | A49V | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 |
exon 3 | c.153G>T | p.(Glu51Asp) | E51D | Uncertain significance (VUS) | To be validated |
| | 2019-08-21 |
exon 3 | c.155G>A | p.(Arg52Gln) | R52Q | Uncertain significance (VUS) | VALIDATED |
| | 2012-03-02 |
exon 3 | c.170T>G | p.(Leu57Arg) | L57R | Uncertain significance (VUS) | To be validated |
| | 2019-08-21 |
exon 3 | c.184C>T | p.(Arg62Trp) | R62W | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 |
exon 3 | c.190G>A | p.(Ala64Thr) | A64T | Uncertain significance (VUS) | To be validated |
| | 2019-08-21 |
exon 3 | c.203C>T | p.(Thr68Met) | T68M | Not classified | To be validated |
| | 2017-01-18 |
exon 5 | c.330G>C | p.(Glu110Asp) | E110D | Uncertain significance (VUS) | To be validated |
| | 2019-07-16 |
exon 6 | c.364G>A | p.(Val122Ile) | V122I | Likely benign | VALIDATED |
| | 2016-11-23 |
exon 6 | c.368_378delinsCTTAGCCCTCT | p.(Met123_Leu416delinsThr) | M123_L416delinsT | Uncertain significance (VUS) | To be validated |
| | 2019-08-21 |
exon 6 | c.368_382delinsCGATGCTGCTTAGCC | p.(Met123_Lys128delinsThrMetLeuLeuSerGln) | M123_K128delinsTMLLSQ | Uncertain significance (VUS) | To be validated |
| | 2019-08-21 |
exon 6 | c.371_384delinsGGATGCTGCTTAGC | p.(Asp124_Lys128delinsGlyMetLeuLeuSer) | D124_K128delinsGMLLS | Uncertain significance (VUS) | To be validated |
| | 2019-08-21 |
exon 6 | c.398_407delinsCCCCAGACCC | p.(Leu133_Lys136delinsProProAspPro) | L133_K136delinsPPDP) | Uncertain significance (VUS) | To be validated |
| | 2019-08-21 |
exon 8 | c.543G>A | p.(Lys181=) | G543A | Likely benign | VALIDATED |
| | 2012-06-13 |
exon 9 | c.604C>T | p.(Arg202Trp) | R202W | Uncertain significance (VUS) | To be validated |
| | 2019-07-16 |
exon 10 | c.657A>C | p.(Gln219His) | Q219H | Not classified | To be validated |
| | 2017-04-03 |
exon 10 | c.660_678delinsTCGACAGTTTCATCCAGGC | p.(Glu220_Ile226delinsAspArgGlnPheHisProGly) | E220_I226delinsDRQFHPG | Uncertain significance (VUS) | To be validated |
| | 2019-08-21 |
exon 10 | c.664_684delinsTCTACGAGGAAGTGCGGCTGA | p.(Asp222_Leu416delinsSerThrArgLysCysGly) | D222_L416delinsSTRKCG) | Uncertain significance (VUS) | To be validated |
| | 2019-08-21 |
exon 10 | c.682C>T | p.(Arg228Cys) | R228C | Not classified | To be validated |
| | 2019-05-13 |
exon 10 | c.688G>A | p.(Ala230Thr) | A230T | Pathogenic | VALIDATED |
| | 2003-04-18 |
exon 10 | c.710_719delinsGACATCGACA | p.(Gln237_Met240delinsArgHisArgGln) | Q237_M240delinsRHRQ) | Uncertain significance (VUS) | To be validated |
| | 2019-08-21 |
exon 10 | c.736G>A | p.(Asp246Asn) | D246N | Likely pathogenic | VALIDATED |
| | 2013-07-08 |
intron 10 | c.741+27G>T | p.? | c.741+27G>T | Likely benign | VALIDATED |
| | 2013-09-12 |
intron 10 | c.741+32_741+33dup | p.? | c.741+33_741+34insGT | Likely benign | VALIDATED |
| | 2006-04-24 |
exon 11 | c.748G>C | p.(Glu250Gln) | E250Q | Pathogenic | VALIDATED |
| | 2003-04-18 |
exon 11 | c.748G>A | p.(Glu250Lys) | E250K | Pathogenic | VALIDATED |
| | 2007-01-10 |
exon 11 | c.769G>A | p.(Glu257Lys) | E257K | Likely pathogenic | VALIDATED |
| | 2013-07-24 |
exon 11 | c.770A>G | p.(Glu257Gly) | E256G | Likely pathogenic | PROVISIONAL |
| | 2013-09-17 |
exon 11 | c.772_774delinsAGG | p.(Gly258Arg) | G258R | Uncertain significance (VUS) | To be validated |
| | 2019-10-02 |
exon 11 | c.773G>C | p.(Gly258Ala) | G258A | Likely benign | PROVISIONAL |
| | 2012-06-12 |
exon 11 | c.796G>A | p.(Asp266Asn) | D266N | Uncertain significance (VUS) | PROVISIONAL |
| | 2006-05-22 |
exon 11 | c.821C>T | p.(Thr274Met) | T274M | Uncertain significance (VUS) | To be validated |
| | 2019-10-02 |
exon 11 | c.831G>T | p.(Glu277Asp) | E277D | Likely benign | PROVISIONAL |
| | 2013-06-24 |
exon 12 | c.865G>C | p.(Asp289His) | D289H | Uncertain significance (VUS) | VALIDATED |
| | 2016-11-23 |
exon 12 | c.915C>T | p.(Cys305=) | C915T | Benign | VALIDATED |
| | 2012-06-13 |
exon 13 | c.968C>T | p.(Ser323Leu) | S323L | Uncertain significance (VUS) | To be validated |
| | 2019-07-16 |
intron 13 | c.986-33dupA | p.? | c.986-33dupA | Benign | VALIDATED |
| | 2011-12-22 |
exon 14 | c.986C>T | p.(Ala329Val) | A329V | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 |
exon 14 | c.1008_1025delinsTCCCGGGTGGGGGGAGG | p.(Thr337Profs*52) | T337Pfs*52 | Uncertain significance (VUS) | To be validated |
| | 2019-08-21 |
exon 14 | c.1013_1039delinsTGAGTGAAAGGAGGGTGGTGCACACAT | p.(Pro338_Ala347delinsLeuSerGluArgArgValValHisThrSer) | P338_A347delinsLSERRVHTS | Uncertain significance (VUS) | To be validated |
| | 2019-08-21 |
exon 14 | c.1016_1023delinsGGGGAATG | p.(Glu339_Asn341delinsGlyGlyMet) | E339_D341delinsGGM | Uncertain significance (VUS) | To be validated |
| | 2019-08-21 |
exon 14 | c.1030G>A | p.(Val344Ile) | Val344Ile | Uncertain significance (VUS) | VALIDATED |
| | 2008-12-01 |
exon 14 | c.1034A>G | p.(Tyr345Cys) | Y345C | Likely pathogenic | To be validated |
| | 2019-08-21 |
exon 14 | c.1054G>A | p.(Glu352Lys) | E352K | Not classified | To be validated |
| | 2019-07-01 |
exon 14 | c.1093C>T | p.(Arg365Trp) | R365W | Uncertain significance (VUS) | To be validated |
| | 2019-07-16 |
exon 14 | c.1106A>G | p.(Asp369Gly) | D369G | Uncertain significance (VUS) | To be validated |
| | 2019-10-02 |
exon 14 | c.1115C>T | p.(Ala372Val) | A372V | Not classified | To be validated |
| | 2019-05-13 |
intron 14 | c.1120-44_1120-31del | p.? | c.1120-44_1120-31 | Likely benign | VALIDATED |
| | 2013-09-06 |
intron 14 | c.1120-12T>C | p.? | 1120-12T>C | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 |
exon 15 | c.1151A>G | p.(Asp384Gly) | D384G | Benign | VALIDATED |
| | 2015-12-04 |
exon 15 | c.1154T>C | p.(Ile385Thr) | c.1154T>C | Uncertain significance (VUS) | To be validated |
| | 2019-03-27 |
exon 15 | c.1179G>A | p.(Glu393=) | G1179A | Likely benign | VALIDATED |
| | 2012-06-13 |
exon 15 | c.1207G>C | p.(Gly403Arg) | G403R | Uncertain significance (VUS) | VALIDATED |
| | 2015-02-17 |
exon 15 | c.1208G>A | p.(Gly403Glu) | G403E | Uncertain significance (VUS) | VALIDATED |
| | 2015-12-23 |
exon 15 | c.1213C>T | p.(Arg405Cys) | R405C | Likely benign | PROVISIONAL |
| | 2014-02-19 |
exon 15 | c.1222G>A | p.(Val408Ile) | V408I | Uncertain significance (VUS) | To be validated |
| | 2019-07-16 |
3UT | c.*156_*158del | p.? | c.*156_158del | Benign | VALIDATED |
| | 2012-12-10 |