"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 138526	NM_001243133.2(NLRP3):c.207C>T (p.Ala69=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome +6 more	GBenign/Likely benign
Select item 296942	NM_001243133.2(NLRP3):c.397+7G>A	NLRP3	Single nucleotide variant (intron variant)	Chronic infantile neurological, cutaneous and articular syndrome +6 more	GBenign/Likely benign
Select item 296944	NM_001243133.2(NLRP3):c.423C>T (p.Tyr141=)	NLRP3	Single nucleotide variant (synonymous variant)	Chronic infantile neurological, cutaneous and articular syndrome +7 more	GBenign
Select item 1285052	NM_001243133.2(NLRP3):c.450A>G (p.Glu150=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 97986	NM_001243133.2(NLRP3):c.930C>T (p.Asp310=)	NLRP3	Single nucleotide variant (synonymous variant)	Familial amyloid nephropathy with urticaria AND deafness +6 more	GBenign/Likely benign
Select item 218548	NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=)	NLRP3	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 97908	NM_001243133.2(NLRP3):c.1032G>A (p.Leu344=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome +6 more	GBenign/Likely benign
Select item 97930	NM_001243133.2(NLRP3):c.1383C>T (p.Cys461=)	NLRP3	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 97931	NM_001243133.2(NLRP3):c.1389C>T (p.His463=)	NLRP3	Single nucleotide variant (synonymous variant)	not provided +8 more	GBenign/Likely benign
Select item 97940	NM_001243133.2(NLRP3):c.1600C>T (p.Leu534=)	NLRP3	Single nucleotide variant (synonymous variant)	Chronic infantile neurological, cutaneous and articular syndrome +6 more	GBenign
Select item 1018794	NM_001243133.2(NLRP3):c.1642C>T (p.Arg548Cys)	NLRP3 (R548C +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome +1 more	GUncertain significance
Select item 259561	NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys)	NLRP3 (Q705K +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 234290	NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly)	NLRP3 (S728G +1 more)	Single nucleotide variant (missense variant +1 more)	Cryopyrin associated periodic syndrome +7 more	GConflicting classifications of pathogenicity
Select item 1297537	NM_001243133.2(NLRP3):c.3020A>G (p.Tyr1007Cys)	NLRP3 (Y1007C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance