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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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| 5 flanking | c.-20191_191del | p.? | Exon1-4deletion | Likely pathogenic | To be validated |
| | 2021-10-07 | | | 5 flanking | c.-4153_191del | p.? | del IL1RN | Likely pathogenic | To be validated |
| | 2019-08-21 | 2020-06-22 | | 5 flanking | c.(?_-64)_(1696_?)del | p.? | IL1F9_IL1RNdel | Not classified | To be validated |
| | 2009-08-06 | 2021-01-22 | | exon 1 | c.62C>G | p.(Ser21*) | S21* | Likely pathogenic | To be validated |
| | 2020-06-02 | | | exon 1 | c.76C>T | p.(Arg26*) | R26* | Not classified | To be validated |
| | 2017-05-17 | 2020-04-03 | | intron 1 | c.116+34G>A | p.? | c.116+34G>A | Not classified | To be validated |
| | 2013-08-27 | 2013-09-10 | | intron 1 | c.116+774del2593 | p.Ile40Glnfs*6 | Δ2593bp_I1toE3 | Likely pathogenic | To be validated |
| | 2023-08-01 | | | exon 2 | c.133C>T | p.(Gln45*) | Q45* | Likely pathogenic | To be validated |
| | 2021-01-11 | | | exon 2 | c.141del | p.(Phe48Serfs*3) | T47Tfs*4 | Likely pathogenic | To be validated |
| | 2021-01-11 | | | exon 2 | c.156del | p.(Asn52Lysfs*4) | N18Kfs*4 | Likely pathogenic | To be validated |
| | 2021-01-11 | | | exon 2 | c.156_157del | p.(Asn52Lysfs*25) | N52KfsX25 | Not classified | To be validated |
| | 2009-08-03 | | | exon 2 | c.160C>T | p.(Gln54*) | Q54X | Not classified | To be validated |
| | 2009-08-03 | | | exon 2 | c.171T>C | p.(Ala57=) | A60A | Not classified | To be validated |
| | 2011-09-01 | | | intron 2 | c.206-516_206-430(2_6) | p.? | VNTR | Not classified | To be validated |
| | 2011-09-01 | 2012-03-29 | | exon 3 | c.213_227delAGATGTGGTACCCAT | p.(Asp72_Ile76del ) | p.Asp72_Ile76del | Not classified | To be validated |
| | 2011-08-05 | 2013-01-02 | | exon 3 | c.229G>T | p.(Glu77*) | E77X | Not classified | To be validated |
| | 2009-08-03 | | | exon 3 | c.272G>T | p.(Cys91Phe) | C91F | Not classified | To be validated |
| | 2012-07-05 | 2013-01-24 | | intron 3 | c.318+2T>G | p.Glu69Glyfs*2 | E3skipping | Likely pathogenic | To be validated |
| | 2023-08-01 | | | exon 4 | c.355C>T | p.(Gln119*) | Q119X | Not classified | To be validated |
| | 2013-02-05 | | | exon 4 | c.370G>A | p.(Ala124Thr) | A124T | Not classified | To be validated |
| | 2014-12-17 | 2016-05-16 | | exon 4 | c.390T>C | p.(Ser130=) | S130S | Not classified | To be validated |
| | 2013-08-27 | | | exon 4 | c.396delC | p.(Thr133Profs*118) | c.396delC | Not classified | To be validated |
| | 2015-03-26 | 2019-04-13 | | exon 4 | c.418G>A | p.(Ala140Thr) | A106T | Uncertain significance (VUS) | To be validated |
| | 2019-07-16 | 2019-08-13 | | 3UT | c.*138C>G | p.? | c.*138C>G | Not classified | To be validated |
| | 2013-08-27 | | | 3UT | c.*162C>T | p.? | c.*162C>T | Not classified | To be validated |
| | 2013-10-15 | |
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