NLRC4 (NM_001199138.2) sequence variants
(CLAN, IPAF, AIFEC, CLAN1, CLANA, CLANB, CLANC, CLAND, FCAS4, CARD12, CLR2.1)

PubMed of the initial paper:

• Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation.
  Romberg N & al
• An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome.
  Canna SW & al

Variants review:

• NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood
  Bardet J & al

Other links:

• MAP VIEW
• ORPHANET: Orphan disease database