*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.-9G>A | p.0 | c.-9G>A | Likely pathogenic | To be validated |
| | 2017-05-17 | 2021-03-24 | exon 1 | c.2T>C | p.? | M1T | Likely pathogenic | To be validated |
| | 2019-05-13 | 2019-05-14 | exon 1 | c.43G>C | p.(Gly15Arg) | G15R | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | 2019-05-14 | exon 1 | c.44dup | p.(Pro16Serfs*45) | p.P16Sfs*45 | Not classified | To be validated |
| | 2017-05-17 | 2019-08-26 | exon 2 | c.231del | p.(Leu78Trpfs*31) | p.(Leu78Trpfs∗31) | Likely pathogenic | To be validated |
| | 2024-03-03 | | exon 3 | c.479A>G | p.(Tyr160Cys) | Y160C | Likely pathogenic | To be validated |
| | 2019-05-13 | | intron 3 | c.494+17A>G | p.? | c.494+17A>G | Likely pathogenic | To be validated |
| | 2024-03-03 | | exon 5 | c.634_642del | p.(Asp212_Val214del) | p.D212_V214del | Not classified | To be validated |
| | 2017-05-17 | 2017-08-11 | exon 5 | c.666C>A | p.(Tyr222*) | Y222X | Not classified | To be validated |
| | 2017-09-06 | 2022-01-19 | exon 6 | c.739C>T | p.(Pro247Ser) | P247S | Uncertain significance (VUS) | To be validated |
| | 2023-07-26 | | 3UT | c.*45delT | p.? | *45delT | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | 2019-05-14 |
|