Gene | Variant | SNPID | Protein change | ACMG criteria | Classification | Inheritance | Disease |
---|---|---|---|---|---|---|---|
ADAR | chr1:154602065:G>C | rs145588689 | c.C577G: p.P193A | PM1, PP3, PM3, PP4 | Likely pathogenic 5 | AR | AGS |
IL36RN | chr2:113060943:T:C | rs148755083 | c.115+6T>C: p.Arg10ArgfsX1 | PS2, PS3, PP5 | Pathogenic 2 | AR | DITRA |
IL36RN | chr2:113062547:C>T | rs144478519 | c.C338T: p.S113L | PM1, PP3, PS3, PM3, PP1, PP4 | Pathogenic 3b | AR | DITRA |
AP1S3 | chr2:223777862:A>C | rs116107386 | c.T11G: p.F4C | PM1, PP3, PS3, BS4 | Likely pathogenic 2 | AD | Pustular psoriasis |
RNASEH2C | chr11:65720385:G>A | rs78635798 | c.C205T: p.R69W | PM1, PM2, PP3, PP5, PS3, PP1-M | Pathogenic 3a | AR | AGS |
MVK | chr12:109586107:A>G | rs104895364 | c.A613G: p.N205D | PM1, PM2, PP3, PP4 | Likely pathogenic 5 | AR | HIDS |
MVK | chr12:109596515:G>A | rs28934897 | c.G1129A: p.V377I | BP4, PS4, PM3, PP1-M | Likely pathogenic 2 | AR | HIDS |
RNASEH2B | chr13:50945445:G>A | rs75184679 | c.G529A: p.A177T | PM1, PP3, PP5, PS3, BS3, PP4 | Likely pathogenic 2 | AR | AGS |
PSTPIP1 | chr15:77031192:C:T | rs751668240 | c.C850T: p.Q284X | PVS1, PM2, PP3 | Pathogneic 1c | AD | PAPA |
NOD2 | chr16:50711206:C>T | rs2076754 | c.C1295T: p.A432V | PM1, PM2, PP3, BS3, PS4 | Likely pathogenic 2 | AD | Blau Syndrome |
NOD2 | chr16:50711301:G>T | rs104895492 | c.G1390T: p.G464W | PM2, PP3, PS3, PP1 | Likely pathogenic 2 | AD | Blau Syndrome |
NOD2 | chr16:50712048:C>T | rs104895440 | c.C2137T: p.R713C | PM2, PP3, PS3 | Likely pathogenic 2 | AD | Blau Syndrome |
CARD14 | chr17:80184015:G>A | rs200731780 | c.G452A: p.R151Q | PM2, BP4, PS3 | Likely pathogenic 2 | AD | CAMPS |
CARD14 | chr17:80198685:C:T | rs200379060 | c.C1234T: p.R412X | PVS1, PM2 | Likely pathogenic 1 | AD | CAMPS |
NLRP7 | chr19:54936400:G>A | rs104895525 | c.C2161T: p.R721W | PM2, PP3, PS1 | Likely pathogenic 2 | AR | HYDM1 |
NLRP12 | chr19:53810605:G:A | rs199881207 | c.C1054T: p.R352C | PM1, PM2, PS3, PP3 | Likely pathogenic 2 | AD | FACS |
ADA2 | chr22:17203564:G>A | rs148936893 | c.C626T: p.P209L | PM1, PM2, BP4, PP5, PS3, PM3, PP1 | Pathogenic 3a | AR | DADA2 |
ADA2 | chr22:17209538:C>A | rs200930463 | c.G140T: p.G47V | PM1, PM2, PP3, PP5, PM5 | Likely pathogenic 4 | AR | DADA2 |
ADA2 | chr22:17209539:C>G | rs202134424-G | c.G139C: p.G47R | PM1, PM2, PP3, PS1, PS3, PS4 | Pathogenic 2 | AR | DADA2 |
ADA2 | chr22:17209539:C>T | rs202134424-T | c.G139A: p.G47R | PM1, PM2, PP3, PP5, PS3, PS4 | Pathogenic 2 | AR | DADA2 |