2024-03-28 CARD14 - NM_024110.4 Location Usual name protein name Sequence change Alteration N base(s) Base substituted Classification Status Using In silico prediction? Fonctional test Functional approach? Consequence Techniques used Disease related symptoms Associated phenotype Zygosity in this patient Inheritance in this patient Ancestry/origin Comment Input date References Other PMID Exon 2 C50Y p.(Cys50Tyr) c.149G>A substitution 1 G>A Likely pathogenic YES NO Sequencing Sanger Symptomatic DITRA Unknown Unknown China/Asian 2020-08-28 Publication (PubMed PMID): 30998217 Exon 2 R62Q p.(Arg62Gln) c.185G>A substitution 1 G>A Not classified UNKNOWN YES Unknown Unknown Sequencing Sanger Symptomatic Psoriasis Unknown Unknown Tunisia/ Consensus prediction on protein function : Benign 2015-12-07 Publication (PubMed PMID): 26358359 Exon 2 R69W p.(Arg69Trp) c.205C>T substitution 1 C>T Not classified UNKNOWN YES Unknown Unknown Sequencing Sanger Symptomatic Psoriasis Unknown Unknown Tunisia/ Consensus prediction on protein function : Damaging 2015-12-07 Publication (PubMed PMID): 26358359 Exon 2 R69Q p.(Arg69Gln) c.206G>A substitution 1 G>A Not classified UNKNOWN NO Sequencing Sanger Symptomatic Generalised pustular psoriasis Unknown Unknown Germany/Caucasian 2013-06-26 Publication (PubMed PMID): 23648549 Exon 3 K78N p.(Lys78Asn) c.234G>T substitution 1 G>T Not classified UNKNOWN NO Sequencing Sanger Unknown palmoplantar pustulosis Unknown Unknown / 2020-01-28 Publication (PubMed PMID): 30036598 Exon 3 K93Q p.(Lys93Gln) c.277A>C substitution 1 A>C Likely pathogenic YES NO Sequencing Sanger Symptomatic CARD14-associated psoriasis Unknown Unknown / the name has been changed as compared to the initial publication to match HGVS nomenclature 2020-06-02 Publication (PubMed PMID): 32349169 Exon 3 V110A p.(Val110Ala) c.329T>C substitution 1 T>C Not classified UNKNOWN NO Sequencing NGS Unknown Reccurent fever Unknown Unknown / 2019-05-13 Bader Meunier B Rittore C Sarrabay G Touitou I Personal communication Exon 3 G117S p.(Ser116_Gly117ins22) c.349G>A substitution 1 G>A Not classified UNKNOWN YES Unknown A proportion of mutant transcripts are correctly spliced. In these, the mutation results into a Gly to Ser substitution. In the remaining transcripts an abnormal splice variant is created, which includes an extra 66bp, due to the activation of a cryptic splice site within intron 3. Sequencing Sanger Symptomatic Psoriasis Unknown Unknown United states/Caucasian The mutation was found in an extended pedigree where psoriasis was segregating as an autosomal dominant trait. 2013-04-15 Publication (PubMed PMID): 22521418 Intron 3 c.349+1G>A p.(Ser116_Gly117ins22) c.349+1G>A substitution 1 G>A Not classified UNKNOWN YES Unknown Aberrant mRNA splicing Sequencing Sanger Symptomatic Familial Pityriasis Rubra Pilaris Unknown Unknown / The mutation generates an aberrant splice variant as a result of the use of a cryptic splice site, causing the insertion of an extra 66 bp originating from intron 3. 2013-04-15 Publication (PubMed PMID): 22703878 Intron 3 c.349+5G>A p.(Ser116_Gly117ins22) c.349+5G>A substitution 1 G>A Not classified UNKNOWN YES Unknown Aberrant mRNA splicing Sequencing Sanger Symptomatic Psoriasis Unknown Unknown Taiwan, province of china/Asian The mutation, which was found in multi-generation pedigree, generates an aberrant splice variant as a result of the use of a cryptic splice site, causing the insertion of an extra 66 bp originating from intron 3 2013-04-15 Publication (PubMed PMID): 22521418 Exon 4 M119V p.(Met119Val) c.355A>G substitution 1 A>G Not classified UNKNOWN NO Sequencing Sanger Symptomatic GPP Unknown Unknown China/Han 2014-08-01 Publication (PubMed PMID): 24999592 Exon 4 M119R p.(Met119Arg) c.356T>G substitution 1 T>G Likely pathogenic YES NO Sequencing Sanger Symptomatic CARD14-associated psoriasis Unknown Unknown / 2021-01-11 Publication (PubMed PMID): 28301045 29477734 Exon 4 M119T p.(Met119Thr) c.356T>C substitution 1 T>C Not classified NO NO Sequencing Sanger Sequencing NGS Symptomatic CARD14-associated psoriasis Unknown Unknown / 2021-01-11 Publication (PubMed PMID): 29477734 Exon 4 M119K p.(Met119Lys) c.356T>A substitution 1 T>A Pathogenic UNKNOWN UNKNOWN Sequencing NGS Symptomatic Generalized pustular psoriasis Heterozygous De novo France/Mediterranean 2021-01-19 Phan A Rittore C Sarrabay G Boursier G Touitou I Personal communication Exon 4 T121I p.(Thr121Ile) c.362C>T substitution 1 C>T Not classified UNKNOWN NO Sequencing NGS Unknown UNKNOWN Unknown Unknown Italy/Caucasian 2019-05-13 Rittore C Sarrabay G Touitou I Personal communication Exon 4 L124P p.(Leu124Pro) c.371T>C substitution 1 T>C Not classified UNKNOWN NO Sequencing Sanger Symptomatic pityriasis rubra pilaris Unknown Unknown / 2014-10-31 Publication (PubMed PMID): 24641799 Exon 4 C127S p.(Cys127Ser) c.380G>C substitution 1 G>C Not classified NO NO Sequencing Sanger Sequencing NGS Symptomatic CARD14-associated psoriasis Unknown Unknown / 2021-01-11 Publication (PubMed PMID): 29477734 Exon 4 Q136L p.(Gln136Leu) c.407A>T substitution 1 A>T Not classified UNKNOWN YES Cell free system Altered regulation Sequencing NGS Symptomatic CARD14-associated psoriasis Heterozygous De novo Japan/Asian 2023-03-03 Publication (PubMed PMID): 34004138 Exon 4 E138del p.(Glu138del) c.412_414delGAG deletion 3 GAG Not classified UNKNOWN YES Unknown In frame deletion/insertion Sequencing Sanger Symptomatic Familial Pityriasis Rubra Pilaris Unknown Unknown / 2013-04-15 Publication (PubMed PMID): 22703878 Exon 4 E138K p.(Glu138Lys) c.412G>A substitution 1 G>A Not classified NO NO Sequencing Sanger Sequencing NGS Symptomatic CARD14-associated psoriasis Unknown Unknown / De novo mutation 2021-01-11 Publication (PubMed PMID): 29477734 33431438 Exon 4 E138A p.(Glu138Ala) c.413A>C substitution 1 A>C Not classified UNKNOWN YES Unknown Non-synonymous amino acid substitution Sequencing Sanger Symptomatic Psoriasis Unknown Unknown Haiti/ De novo mutation observed in a sporadic patient suffering from severe psoriasis 2013-04-15 Publication (PubMed PMID): 22521418 Exon 4 L149R p.(Leu149Arg) c.446T>G substitution 1 T>G Not classified UNKNOWN NO Sequencing Sanger Sequencing NGS Symptomatic CARD14-associated psoriasis Unknown Unknown Italy/Caucasian 2019-08-21 Publication (PubMed PMID): 31286971 Exon 4 L150R p.(Leu150Arg) c.449T>G substitution 1 T>G Not classified UNKNOWN YES Unknown Unknown Sequencing Sanger Symptomatic Psoriasis Unknown Unknown Tunisia/ Consensus prediction on protein function : Neutral 2015-12-07 Publication (PubMed PMID): 26358359 Exon 4 R151W p.(Arg151Trp) c.451C>T substitution 1 C>T Not classified UNKNOWN YES Unknown Unknown Sequencing Sanger Unknown UNKNOWN Unknown Unknown / Consensus prediction on protein function : Probably damaging 2015-12-07 Publication (PubMed PMID): 26358359 Exon 4 R151Q p.(Arg151Gln) c.452G>A substitution 1 G>A Not classified UNKNOWN YES Unknown Altered regulation Sequencing Sanger Symptomatic Psoriasis Unknown Unknown Tunisia/ Consensus prediction on protein function : Benign 2015-12-07 Publication (PubMed PMID): 26358359 Exon 4 C153S p.(Cys153Ser) c.458G>C substitution 1 G>C Likely pathogenic YES NO Sequencing Sanger Symptomatic CARD14-associated psoriasis Unknown Unknown India/ 2020-06-02 Publication (PubMed PMID): 32323375 Exon 4 L156P p.(Leu156Pro) c.467T>C substitution 1 T>C Not classified UNKNOWN YES Unknown Non-synonymous amino acid substitution Sequencing Sanger Symptomatic Familial pityriasis rubra pilaris Unknown Unknown / 2013-04-15 Publication (PubMed PMID): 22703878 Exon 4 Q157P p.(Gln157Pro) c.470A>C substitution 1 A>C Not classified NO NO Sequencing Sanger Sequencing NGS Symptomatic CARD14-associated psoriasis Unknown Unknown / 2021-01-11 Publication (PubMed PMID): 29477734 Exon 4 R166H p.(Arg166His) c.497G>A substitution 1 G>A Not classified UNKNOWN NO Sequencing Sanger Symptomatic GPP Unknown Unknown China/Han 2014-08-01 Publication (PubMed PMID): 24999592 Exon 4 D176H p.(Asp176His) c.526G>C substitution 1 G>C Not classified UNKNOWN UNKNOWN Sequencing Sanger Symptomatic Non symptomatic GPP Unknown Unknown Japan/ 2014-02-05 Publication (PubMed PMID): 24476623 30723930 Exon 4 R179H p.(Arg179His) c.536G>A substitution 1 G>A Not classified NO NO Sequencing Sanger Symptomatic DITRA Unknown Unknown / 2020-08-28 Publication (PubMed PMID): 28887889 Exon 4 R182C p.(Arg182Cys) c.544C>T substitution 1 C>T Not classified UNKNOWN NO Sequencing Sanger Unknown palmoplantar pustulosis Unknown Unknown / 2020-01-28 Publication (PubMed PMID): 30036598 Exon 4 E197K p.(Glu197Lys) c.589G>A substitution 1 G>A Not classified UNKNOWN NO Sequencing Sanger Sequencing NGS Symptomatic CAPS psoriasis Unknown Unknown France/Caucasian 2015-12-04 Rosselini D Dumont B Sarrabay G Touitou I Personal communication Exon 4 S200N p.(Ser200Asn) c.599G>A substitution 1 G>A Not classified UNKNOWN YES Unknown Unknown Sequencing Sanger Symptomatic DITRA Unknown Unknown Germany/Iraqi/German The mutation was found in a patient with DITRA caused by a homozygous p.Ser113Leu change. 2013-06-26 Publication (PubMed PMID): 23648549 Exon 4 L209P p.(Leu209Pro) c.626T>C substitution 1 T>C Not classified UNKNOWN YES Unknown Unknown Sequencing Sanger Symptomatic Psoriasis Unknown Unknown / Consensus prediction on protein function : Probabl damaging 2015-12-07 Publication (PubMed PMID): 26358359 Exon 4 A216T p.(Ala216Thr) c.646G>A substitution 1 G>A Not classified UNKNOWN NO Sequencing NGS Unknown PFAPA Unknown Unknown / 2019-05-13 Publication (PubMed PMID): 30783801 Exon 4 R218C p.(Arg218Cys) c.652C>T substitution 1 C>T Not classified UNKNOWN YES Unknown Unknown Sequencing Sanger Non symptomatic NO Unknown Unknown / Consensus prediction on protein function : Damaging 2015-12-07 Publication (PubMed PMID): 26358359 Exon 5 A254T p.(Ala254Thr) c.760G>A substitution 1 G>A Uncertain significance (VUS) UNKNOWN UNKNOWN Sequencing NGS Symptomatic Undefined-AID Unknown Unknown France/ Suspected PAPA/PASH syndrome or Verneuil disease but no mutations identified in PSTPIP1 or NSCTN 2020-07-07 Tieulé N Rittore C Boursier G Touitou I Personal communication Exon 5 R266C p.(Arg266Cys) c.796C>T substitution 1 C>T Uncertain significance (VUS) UNKNOWN NO Sequencing NGS Unknown Reccurent fever Unknown Unknown France/Caucasian 2019-05-13 Bachelez H Rittore C Rama M Sarrabay G Touitou I Personal communication Exon 6 R298*Stop p.(Arg298*) c.892C>T substitution 1 C>T Not classified UNKNOWN NO Sequencing NGS Symptomatic Undefined-AID Unknown Unknown / 2021-01-11 Publication (PubMed PMID): 32199921 Exon 8 R304C p.Arg304Cys c.910C>T substitution 1 C>T Uncertain significance (VUS) YES NO Sequencing NGS Symptomatic CARD14-associated psoriasis Heterozygous Inherited from an asymptomatic parent Turkey/Mediterranean 2023-06-02 BERDELI A BAGDATLI N TIGLI D. Personal communication Exon 6 R311W p.(Arg311Trp) c.931C>T substitution 1 C>T Uncertain significance (VUS) UNKNOWN NO Sequencing NGS Unknown UNKNOWN Unknown Unknown / 2019-05-13 Duffau P Rittore C Ruault V Boursier G Touitou I Personal communication Exon 6 R319Q p.(Arg319Gln) c.956G>A substitution 1 G>A Uncertain significance (VUS) UNKNOWN NO Sequencing NGS Symptomatic Undefined-AID Unknown Unknown / 2021-01-11 Publication (PubMed PMID): 32199921 33543522 Exon 7 M338V p.(Met338Val) c.1012A>G substitution 1 A>G Not classified UNKNOWN YES Unknown Unknown Sequencing Sanger Symptomatic Psoriasis Unknown Unknown Tunisia/ Consensus prediction on protein function : Benign 2015-12-07 Publication (PubMed PMID): 26358359 Exon 7 L350P p.(Leu350Pro) c.1049T>C substitution 1 T>C Not classified UNKNOWN NO Sequencing Sanger Non symptomatic NO Unknown Unknown Tunisia/ Consensus prediction on protein function : Damaging 2015-12-07 Publication (PubMed PMID): 26358359 Exon 7 V354M p.(Val354Met) c.1060G>A substitution 1 G>A Uncertain significance (VUS) UNKNOWN NO Sequencing NGS Unknown Recurrent fever Unknown Unknown France/Caucasian 2019-05-13 Hentgen V Rittore C Sarrabay G Touitou I Personal communication Intron 7 c.1090-2A>G p.? c.1090-2A>G substitution 1 A>G Not classified UNKNOWN NO Sequencing Sanger Sequencing NGS Symptomatic Psoriasis Unknown Unknown France/ 2015-12-23 Fischbach M Dumont B Sarrabay G Touitou I Personal communication Exon 8 A364V p.(Ala364Val) c.1091C>T substitution 1 C>T Not classified UNKNOWN NO Sequencing Sanger Sequencing NGS Symptomatic Unclassified autoinflammatory syndrome Unknown Unknown France/Caucasian 2015-12-04 Dusser P Christin P Dumont B Sarrabay G Touitou I Personal communication Exon 9 T420A p.(Thr420Ala) c.1258A>G substitution 1 A>G Not classified UNKNOWN YES Unknown Unknown Sequencing Sanger Symptomatic Psoriasis Unknown Unknown Tunisia/ Consensus prediction on protein function : Benign 2015-12-07 Publication (PubMed PMID): 26358359 Exon 9 E422K p.(Glu422Lys) c.1264G>A substitution 1 G>A Likely benign YES NO Sequencing Sanger Sequencing NGS Symptomatic UNKNOWN Unknown Unknown Italy/Caucasian 2019-07-16 Grossi A Ceccherini I Personal communication Exon 9 R430W p.(Arg430Trp) c.1288C>T substitution 1 C>T Not classified UNKNOWN NO Sequencing Sanger Symptomatic Psoriasis Acute Generalised Exanthematous Pustulosis Unknown Unknown Spain/ Very rare variant according to Exac 2017-08-07 Publication (PubMed PMID): 28776328 Intron 9 c.1356+5G>A p.? c.1356+5G>A substitution 1 G>A Not classified UNKNOWN NO Sequencing Sanger Symptomatic Psoriasis Unknown Unknown Tunisia/ The effect on splicing was not confirmed at the experimental level 2015-12-07 Publication (PubMed PMID): 26358359 Intron 9 c.1357-1G>A p.? c.1357-1G>A substitution 1 G>A Uncertain significance (VUS) YES UNKNOWN Sequencing NGS Symptomatic Undefined-AID Unknown Unknown Ethiopia/African Patient with a suspicion of LPIN-CNO (Majeed) but no sequence variation in LPIN2 detected by NGS. Consanguinity 2019-03-27 Boursier G Ravalet A Rittore C Touitou I Personal communication Exon 10 P479R p.(Pro479Arg) c.1436C>G substitution 1 C>G Likely pathogenic YES NO Sequencing Sanger Symptomatic DITRA Unknown Unknown China/Asian 2020-08-28 Publication (PubMed PMID): 30998217 Exon 10 c.1488del p.(Trp497Glyfs*32) c.1488del deletion 1 C Likely benign UNKNOWN UNKNOWN Sequencing Sanger Non symptomatic NO Unknown Unknown France/ Identified in an asymptomatic parent 2019-10-01 Rittore C Ravalet A Boursier G Touitou I Personal communication Exon 11 P506L p.(Pro506Leu) c.1517C>T substitution 1 C>T Likely benign YES NO Sequencing Sanger Sequencing NGS Symptomatic UNKNOWN Unknown Unknown Italy/Caucasian 2019-07-16 Grossi A Ceccherini I Personal communication Exon 11 A512Sfs*6 p.(Ala512Serfs*6) c.1530dupG duplication 1 G Not classified UNKNOWN NO Sequencing NGS Unknown Undefined-AID Unknown Unknown / 2019-05-13 Publication (PubMed PMID): 30783801 Exon 11 A512T p.(Ala512Thr) c.1534G>A substitution 1 G>A Uncertain significance (VUS) YES NO Sequencing Sanger Sequencing NGS Symptomatic UNKNOWN Unknown Unknown Italy/Caucasian 2019-07-16 Grossi A Ceccherini I Personal communication Exon 11 L528P p.(Leu528Pro) c.1583T>C substitution 1 T>C Not classified UNKNOWN NO Sequencing NGS Symptomatic Undefined-AID Unknown Unknown / 2021-01-11 Publication (PubMed PMID): 32199921 Exon 12 R547S p.(Arg547Ser) c.1641G>C substitution 1 G>C Not classified UNKNOWN UNKNOWN Sequencing Sanger Symptomatic Non symptomatic Pityriasis Rubra Pilaris Unknown Unknown Taiwan, province of china/ Common SNP in the Asian population. Polyphen2 not likely damaging 2014-03-10 Publication (PubMed PMID): 24577624 Exon 13 V555I p.(Val555Ile) c.1663G>A substitution 1 G>A Likely benign YES NO Sequencing Sanger Sequencing NGS Symptomatic UNKNOWN Unknown Unknown Italy/Caucasian 2019-07-16 Grossi A Ceccherini I Personal communication Exon 13 T591M p.(Thr591Met) c.1772C>T substitution 1 C>T Not classified UNKNOWN NO Sequencing Sanger Symptomatic psoriasis vulgaris Unknown Unknown China/Han 2014-08-01 Publication (PubMed PMID): 24999592 Exon 13 P600L p.(Pro600Leu) c.1799C>T substitution 1 C>T Uncertain significance (VUS) UNKNOWN NO Sequencing NGS Unknown Undefined-AID Unknown Unknown Senegal/African 2019-05-13 Cherquaoui B Rittore C Ruault V Boursier G Touitou I Personal communication Exon 13 S602L p.(Ser602Leu) c.1805C>T substitution 1 C>T Not classified UNKNOWN YES Unknown Unknown Sequencing Sanger Symptomatic Psoriasis pustular psoriasis Unknown Unknown / Consensus prediction on protein function : Damaging 2015-12-07 Publication (PubMed PMID): 26358359 Exon 13 A603V p.(Ala603Val) c.1808C>T substitution 1 C>T Not classified UNKNOWN NO Sequencing NGS Unknown NLRP3-AID (CAPS undefined) Unknown Unknown India/Asian NLRP3 p.[=/Ile598Phe;Gln703Lys];[(Gln703Lys)] 2019-05-13 Sawhney S Rittore C Sarrabay G Touitou I Personal communication Exon 13 R610H p.(Arg610His) c.1829G>A substitution 1 G>A Uncertain significance (VUS) YES NO Sequencing Sanger Sequencing NGS Symptomatic UNKNOWN Unknown Unknown Italy/Caucasian 2019-07-16 Grossi A Ceccherini I Personal communication Exon 14 A639G p.(Ala639Gly) c.1916C>G substitution 1 C>G Not classified UNKNOWN YES Unknown Unknown Sequencing Sanger Symptomatic Atopic dermatitis Unknown Unknown / Consensus prediction on protein function : Damaging 2015-12-07 Publication (PubMed PMID): 26358359 Exon 14 G648S p.(Gly648Ser) c.1942G>A substitution 1 G>A Likely pathogenic YES NO Sequencing Sanger Symptomatic DITRA palmoplantar pustulosis Unknown Unknown China/Asian 2020-08-28 Publication (PubMed PMID): 30998217 Exon 15 R682W p.(Arg682Trp) c.2044C>T substitution 1 C>T Likely benign YES NO Sequencing Sanger Sequencing NGS Symptomatic UNKNOWN Unknown Unknown Italy/Caucasian 2019-07-16 Grossi A Ceccherini I Personal communication Exon 15 Y724*Stop p.(Tyr724*) c.2172C>A substitution 1 C>A Not classified UNKNOWN NO Sequencing NGS Symptomatic Undefined-AID Unknown Unknown / 2021-01-11 Publication (PubMed PMID): 32199921 Intron 17 c.2399-4A>G p.? c.2399-4A>G substitution 1 A>G Not classified UNKNOWN UNKNOWN Sequencing Sanger Symptomatic Non symptomatic Pytiriasis Rubra Pilaris Unknown Unknown Taiwan, province of china/ SNP common in the Asian population. Polyphen2 not likely damaging. Not known to cause mRNA splice variant. 2014-03-10 Publication (PubMed PMID): 24577624 Exon 18 R820W p.(Arg820Trp) c.2458C>T substitution 1 C>T Not classified UNKNOWN UNKNOWN Sequencing Sanger Symptomatic Non symptomatic Pytiriasis Rubra Pilaris Unknown Unknown Taiwan, province of china/ SNP common in the Asian population. Polyphen2 not likely damaging 2014-03-10 Publication (PubMed PMID): 24577624 Exon 18 R826W p.(Arg826Trp) c.2476C>T substitution 1 C>T Not classified UNKNOWN NO Sequencing Sanger Symptomatic Generalised pustular psoriasis with concurrent chronic plaque psoriasis Unknown Unknown Germany/Caucasian The patient also carried a p.Ser113Leu heterozygous change in IL36RN 2013-06-26 Publication (PubMed PMID): 23648549 Exon 18 L847F p.(Leu847Phe) c.2539C>T substitution 1 C>T Uncertain significance (VUS) UNKNOWN NO Sequencing NGS Unknown Undefined-AID Unknown Unknown France/Caucasian 2019-05-13 Gril Tamani S Rittore C Rama M Sarrabay G Touitou I Personal communication Intron 18 c.2569+4T>C p.(?) c.2569+4T>C substitution 1 T>C Likely benign YES UNKNOWN Unknown Symptomatic CARD14-associated psoriasis Heterozygous Unknown / 2023-08-03 Publication (PubMed PMID): 36174714 Exon 19 R883H p.(Arg883His) c.2648G>A substitution 1 G>A Not classified UNKNOWN UNKNOWN Sequencing Sanger Symptomatic Non symptomatic Pytiriasis Rubra Pilaris Unknown Unknown Taiwan, province of china/ SNP common in the Asian population. Polyphen2 not likely damaging 2014-03-10 Publication (PubMed PMID): 24577624 Exon 20 c.2789_2791del p.(Lys930del) c.2789_2791del deletion 3 AGA Uncertain significance (VUS) YES UNKNOWN Sequencing NGS Symptomatic Undefined-AID Unknown Unknown France/ 2019-03-27 Boursier G Sarrabay G Carbasse A Rittore C Touitou I Personal communication Exon 21 E957DEL p.(Glu957del) c.2870_2872del deletion 3 AGG Uncertain significance (VUS) UNKNOWN NO Sequencing NGS Unknown Undefined-AID Unknown Unknown Italy/Caucasian 2019-05-13 Uettwiller F Rittore C Imbert-Bouteille M Sarrabay G Touitou I Personal communication Exon 21 D973E p.(Asp973Glu) c.2919C>G substitution 1 C>G Likely benign UNKNOWN NO Sequencing NGS Unknown Undefined-AID Unknown Unknown France/Caucasian 2019-05-13 Retornaz K Rittore C Sarrabay G Touitou I Personal communication 3UT *18C>T p.? c.*18C>T substitution 1 C>T Not classified UNKNOWN NO Sequencing NGS Unknown Recurrent fever Unknown Unknown /African 2019-05-13 Retornaz K Rittore C Sarrabay G Touitou I Personal communication 3UT *19G>A p.? c.*19G>A substitution 1 G>A Uncertain significance (VUS) UNKNOWN NO Sequencing NGS Unknown DADA2 Unknown Unknown / ADA2 c.[427delA];[973-2A>G] p.[Ile143Serfs*41];[?] 2019-05-13 Doummar D Rittore C Rama M Sarrabay G Touitou I Personal communication