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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 7 | c.596A>G | p.(His199Arg) | p.H199R | Uncertain significance (VUS) | To be validated |
| | 2022-06-27 | | | exon 8 | c.690G>T | p.(Lys230Asn) | p.K230N | Pathogenic | To be validated |
| | 2022-03-16 | 2022-03-16 | | exon 8 | c.698G>A | p.(Arg233His) | p.R233H | Pathogenic | To be validated |
| | 2022-03-16 | 2022-03-19 | | exon 9 | c.712A>G | p.(Lys238Glu) | p.K238E | Likely pathogenic | To be validated |
| | 2022-03-16 | 2022-03-19 | | exon 9 | c.715G>C | p.(Ala239Pro) | p.A239P | Likely pathogenic | To be validated |
| | 2022-03-16 | 2022-03-19 | | exon 9 | c.718T>C | p.(Trp240Arg) | p.W240R | Likely pathogenic | To be validated |
| | 2022-03-16 | 2022-03-19 | | exon 9 | c.719G>T | p.(Trp240Leu) | p.W240L | Likely pathogenic | To be validated |
| | 2022-03-16 | 2022-03-19 | | exon 9 | c.719G>C | p.(Trp240Ser) | p.W240S | Likely pathogenic | To be validated |
| | 2022-03-16 | 2022-03-19 | | exon 9 | c.721G>A | p.(Glu241Lys) | p.E241K | Pathogenic | To be validated |
| | 2022-03-16 | 2022-03-19 | | exon 9 | c.722A>C | p.(Glu241Ala) | p.E241A | Likely pathogenic | To be validated |
| | 2022-03-16 | 2022-03-19 | | exon 9 | c.725T>G | p.(Val242Gly) | p.V242G | Pathogenic | To be validated |
| | 2022-03-16 | 2022-03-19 | | exon 9 | c.727G>A | p.(Asp243Asn) | p.D243N | Pathogenic | To be validated |
| | 2022-03-16 | 2022-03-19 | | exon 9 | c.728A>G | p.(Asp243Gly) | p.D243G | Pathogenic | To be validated |
| | 2022-03-16 | 2022-03-19 | | exon 9 | c.841C>T | p.(Arg281Trp) | p.R281W | Likely pathogenic | To be validated |
| | 2022-03-16 | 2022-03-19 | | exon 10 | c.855G>C | p.(Gln285His) | p.Q285H | Pathogenic | To be validated |
| | 2022-03-16 | 2022-03-19 |
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