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*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
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HGVS sequence name |
HGVS protein name |
Usual name* |
Classification** |
Status** |
Simple variant |
Complex alleles |
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| exon 2 | c.88A>G | p.(Met30Val) | M30V | Uncertain significance (VUS) | To be validated |
| | 2022-02-21 | | | exon 2 | c.128_130del | p.(Glu43del) | c.126_128delAGA | Likely pathogenic | To be validated |
| | 2019-01-22 | 2020-03-03 | | exon 2 | c.143_144insTT | p.(Thr49*) | T49* | Likely pathogenic | To be validated |
| | 2021-10-07 | | | exon 3 | c.295C>T | p.(Arg99Trp) | R99W | Likely pathogenic | To be validated |
| | 2019-01-22 | 2021-12-08 | | intron 3 | c.342+5G>T | p.? | c.342+5G>T | Likely pathogenic | To be validated |
| | 2019-01-22 | | | exon 4 | c.363G>T | p.(Glu121Asp) | E121D | Likely pathogenic | To be validated |
| | 2022-02-21 | | | exon 4 | c.383A>G | p.(Asp128Gly) | D128G | Likely pathogenic | To be validated |
| | 2019-01-22 | | | exon 4 | c.443C>T | p.(Ala148Val) | A148V | Likely pathogenic | To be validated |
| | 2019-01-22 | | | exon 4 | c.448C>T | p.(Arg150Cys) | R150C | Likely pathogenic | To be validated |
| | 2019-01-21 | 2019-01-22 | | exon 4 | c.461C>T | p.(Thr154Ile) | T154L | Uncertain significance (VUS) | To be validated |
| | 2019-01-21 | 2020-03-03 | | exon 4 | c.464T>C | p.(Ile155Thr) | I155T | Likely pathogenic | To be validated |
| | 2019-01-22 | | | exon 4 | c.472A>G | p.(Met158Val) | M158V | Pathogenic | To be validated |
| | 2019-01-21 | 2020-03-03 | | exon 5 | c.497T>C | p.(Leu166Ser) | L166S | Pathogenic | To be validated |
| | 2019-01-21 | 2020-03-03 | | exon 5 | c.498_501del | p.(Phe167Thrfs*9) | F167Tfs*9 | Not classified | To be validated |
| | 2021-01-11 | 2021-02-12 | | exon 5 | c.518A>T | p.(Tyr173Phe) | Y173F | Likely pathogenic | To be validated |
| | 2019-01-22 | | | exon 5 | c.527del | p.(Leu176*) | p.Leu176X | Pathogenic | To be validated |
| | 2021-02-12 | | | exon 5 | c.569G>T | p.(Arg190Ile) | R190I | Pathogenic | To be validated |
| | 2019-01-21 | 2019-01-21 | | exon 5 | c.574C>T | p.(Gln192*) | Q192* | Likely pathogenic | To be validated |
| | 2023-03-03 | | | exon 5 | c.608G>A | p.(Arg203Lys) | R203K | Likely pathogenic | To be validated |
| | 2019-01-22 | | | intron 5 | c.608+1G>T | p.? | c.608+1G>T | Pathogenic | To be validated |
| | 2019-01-21 | 2019-01-21 | | exon 6 | c.668T>C | p.(Ile223Thr) | I223T | Pathogenic | To be validated |
| | 2019-01-21 | 2021-02-12 | | exon 7 | c.829G>T | p.(Glu277*) | E77X | Pathogenic | To be validated |
| | 2021-02-12 | | | exon 7 | c.938T>C | p.(Leu313Ser) | p.Leu313Ser | Likely pathogenic | To be validated |
| | 2021-02-12 | | | exon 7 | c.947C>T | p.(Ala316Val) | A316V | Likely pathogenic | To be validated |
| | 2021-02-12 | | | exon 7 | c.947_948insG | p.(Glu318Argfs*11) | p.(Glu318Argfs*11) | Pathogenic | To be validated |
| | 2021-02-12 | 2021-02-12 | | exon 7 | c.948_949delinsGG | p.(Lys317Glu) | c.948–949delAAinsGG | Uncertain significance (VUS) | To be validated |
| | 2022-09-25 | | | exon 7 | c.977T>C | p.(Ile326Thr) | I326T | Uncertain significance (VUS) | To be validated |
| | 2019-01-21 | 2021-02-12 | | exon 7 | c.1043A>T | p.(Asp348Val) | D348V | Likely pathogenic | To be validated |
| | 2021-10-07 | | | exon 7 | c.1054_1056+10del | p.? | c.1054_1056+10del | Pathogenic | To be validated |
| | 2019-01-21 | 2020-03-03 | | intron 7 | c.1056+1G>A | p.? | p.? | Likely pathogenic | To be validated |
| | 2023-03-03 | 2023-03-03 | | intron 7 | c.1057-7C>G | p.? | c.1057-7C>G | Likely pathogenic | To be validated |
| | 2019-01-21 | 2019-01-21 | | exon 8 | c.1142_1143insATGT | p.(Trp381*) | W381* | Pathogenic | To be validated |
| | 2019-01-21 | 2019-01-21 | | exon 8 | c.1213G>A | p.(Gly405Arg) | G405R | Likely pathogenic | To be validated |
| | 2019-01-22 | | | exon 8 | c.1246A>G | p.(Lys416Glu) | K416E | Likely pathogenic | To be validated |
| | 2019-01-21 | 2021-02-12 | | exon 8 | c.1252del | p.(Ser418Valfs*11) | c.1246del | Likely pathogenic | To be validated |
| | 2019-01-22 | | | exon 8 | c.1252dup | p.(Ser418Lysfs*9) | S418fs | Pathogenic | To be validated |
| | 2019-01-21 | 2019-01-21 |
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