"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 138528	NM_001243133.2(NLRP3):c.726G>A (p.Ala242=)	NLRP3	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign
Select item 4374	NM_001243133.2(NLRP3):c.778C>T (p.Arg260Ter)	NLRP3 (R260W +3 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 403243	NM_001243133.2(NLRP3):c.780A>G (p.Arg260=)	NLRP3	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign
Select item 97989	NM_001243133.2(NLRP3):c.937A>G (p.Ile313Val)	NLRP3 (I315V +1 more)	Single nucleotide variant (missense variant)	Chronic infantile neurological, cutaneous and articular syndrome +7 more	GConflicting classifications of pathogenicity
Select item 259560	NM_001243133.2(NLRP3):c.1302C>T (p.Ser434=)	NLRP3	Single nucleotide variant (synonymous variant)	Keratitis fugax hereditaria +6 more	GBenign
Select item 259561	NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys)	NLRP3 (Q705K +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome +7 more	GConflicting classifications of pathogenicity
Select item 704776	NM_001243133.2(NLRP3):c.2419G>A (p.Ala807Thr)	NLRP3 (A809T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

ClinVar