C4015276[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 643212	NM_001199138.2(NLRC4):c.2647G>A (p.Ala883Thr)	NLRC4 (A218T +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 475252	NM_001199138.2(NLRC4):c.2357G>T (p.Gly786Val)	NLRC4 (G786V +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1598719	NM_001199138.2(NLRC4):c.1528G>A (p.Ala510Thr)	NLRC4 (A510T)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 547910	NM_001199138.2(NLRC4):c.1474C>T (p.Arg492Trp)	NLRC4 (R492W)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 103085	NM_001199138.2(NLRC4):c.928C>T (p.Arg310Ter)	NLRC4 (R310*)	Single nucleotide variant (nonsense +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 542049	NM_001199138.2(NLRC4):c.478G>A (p.Ala160Thr)	NLRC4 (A160T)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity

ClinVar