*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.
** If you have new data: please send us a re-evaluation proposal here
|
HGVS sequence name |
HGVS protein name |
Usual name* |
Classification** |
Status** |
Simple variant |
Complex alleles |
|
5UT | c.-173A>T | p.? | c.-173A>T | Not classified | To be validated |
| | 2013-08-27 | exon 2 | c.132_138del | p.(Gln44Hisfs*13) | Q44Hfs*13 | Likely pathogenic | To be validated |
| | 2019-05-13 | intron 3 | c.288+63G>A | p.? | c.288+63G>A | Not classified | To be validated |
| | 2013-09-12 | exon 4 | c.540_541del | p.(Cys181*) | T180fs | Not classified | To be validated |
| | 2005-07-01 | intron 4 | c.590+10_590+11dupTC | p.? | c.590+10_590+11dupTC | Not classified | To be validated |
| | 2020-06-02 | exon 7 | c.895C>T | p.(Arg299Trp) | R299W | Likely pathogenic | To be validated |
| | 2019-05-13 | exon 7 | c.991G>T | p.(Ala331Ser) | A331S | Not classified | To be validated |
| | 2008-03-28 | exon 7 | c.1043C>T | p.(Pro348Leu) | P348L | Not classified | To be validated |
| | 2008-03-28 | exon 7 | c.1159A>G | p.(Lys387Glu) | K387E | Not classified | To be validated |
| | 2008-03-28 | intron 7 | c.1168+44T>C | p.? | c.1168+44T>C | Not classified | To be validated |
| | 2013-09-12 | intron 7 | c.1169-3C>T | p.? | 1169-3C>T | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | exon 9 | c.1282G>A | p.(Gly428Ser) | G428S | Uncertain significance (VUS) | To be validated |
| | 2019-07-16 | exon 9 | c.1312_1313delCT | p.(Ser439Trpfs*15) | p.Ser439Trpfs*15 | Not classified | To be validated |
| | 2013-02-16 | exon 9 | c.1456del | p.(Glu486Lysfs*20) | E486Kfs*20 | Not classified | To be validated |
| | 2019-05-13 | intron 9 | c.1456+29A>G | p.? | c.1456+29A>G | Not classified | To be validated |
| | 2013-08-27 | exon 10 | c.1510C>T | p.(Leu504Phe) | L504F | Not classified | To be validated |
| | 2008-03-28 | exon 12 | c.1685G>A | p.(Arg562Gln) | R562Q | Not classified | To be validated |
| | 2021-01-11 | exon 12 | c.1691_1694delGAGA | p.(Arg564Lysfs*3) | R564Kfs*3 | Likely pathogenic | To be validated |
| | 2020-01-28 | exon 12 | c.1691_1694del | p.(Arg564Lysfs*3) | c.1691_1694delGAGA | Likely pathogenic | To be validated |
| | 2020-08-28 | exon 13 | c.1735T>C | p.(Ser579Pro) | S579P | Uncertain significance (VUS) | To be validated |
| | 2019-07-16 | exon 13 | c.1786G>A | p.(Gly596Ser) | G596S | Not classified | To be validated |
| | 2021-01-11 | exon 14 | c.1796C>T | p.(Pro599Leu) | P599L | Uncertain significance (VUS) | To be validated |
| | 2019-07-16 | exon 14 | c.1801G>A | p.(Glu601Lys) | E601K | Not classified | To be validated |
| | 2008-03-28 | exon 14 | c.1876C>T | p.(Pro626Ser) | P626S | Not classified | To be validated |
| | 2011-01-04 | exon 14 | c.1931A>G | p.(Asp644Gly) | D644G | Uncertain significance (VUS) | To be validated |
| | 2019-08-26 | intron 16 | c.2174+74A>T | p.? | c.2174+74A>T | Not classified | To be validated |
| | 2013-09-12 | exon 17 | c.2196C>G | p.(Tyr732*) | Y732Stop | Not classified | To be validated |
| | 2021-01-11 | exon 17 | c.2201C>T | p.(Ser734Leu) | S734L | Not classified | To be validated |
| | 2005-07-01 | exon 17 | c.2223C>T | p.(Ala741=) | A741A | Not classified | To be validated |
| | 2009-08-04 | intron 17 | c.2327+1G>C | p.? | Arg776SerfsX66 | Not classified | To be validated |
| | 2007-05-15 | exon 19 | c.2468G>C | p.(Gly823Ala) | G823A | Uncertain significance (VUS) | To be validated |
| | 2019-07-16 | intron 19 | c.2546+51T>A | p.? | c.2546+51T>A | Not classified | To be validated |
| | 2013-09-12 | exon 20 | c.2621G>T | p.(Cys874Phe) | C874F | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | exon 20 | c.2625G>A | p.(Pro875=) | P875P | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | 3UT | c.*3C>T | p.? | c.*3C>T | Not classified | To be validated |
| | 2011-09-01 |
|