"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 801645	NM_001243133.2(NLRP3):c.277+83_277+85del	NLRP3	Deletion (intron variant)	not specified +1 more	GBenign
Select item 138528	NM_001243133.2(NLRP3):c.726G>A (p.Ala242=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome +6 more	GBenign
Select item 403243	NM_001243133.2(NLRP3):c.780A>G (p.Arg260=)	NLRP3	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 1 +6 more	GBenign
Select item 1260735	NM_001243133.2(NLRP3):c.2150+59G>A	NLRP3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2628164	NM_001243133.2(NLRP3):c.2322-182G>A	NLRP3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628239	NM_001243133.2(NLRP3):c.2322-166G>A	NLRP3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628124	NM_001243133.2(NLRP3):c.2322-147G>C	NLRP3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628215	NM_001243133.2(NLRP3):c.2322-129A>G	NLRP3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628154	NM_001243133.2(NLRP3):c.2322-124A>G	NLRP3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628243	NM_001243133.2(NLRP3):c.2322-108T>C	NLRP3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628240	NM_001243133.2(NLRP3):c.2322-103A>G	NLRP3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628241	NM_001243133.2(NLRP3):c.2322-99C>T	NLRP3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628244	NM_001243133.2(NLRP3):c.2322-92T>C	NLRP3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628260	NM_001243133.2(NLRP3):c.2322-91C>T	NLRP3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628249	NM_001243133.2(NLRP3):c.2322-87A>G	NLRP3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628283	NM_001243133.2(NLRP3):c.2322-82G>A	NLRP3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628109	NM_001243133.2(NLRP3):c.2322-76C>T	NLRP3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628278	NM_001243133.2(NLRP3):c.2322-71T>G	NLRP3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628284	NM_001243133.2(NLRP3):c.2322-68T>C	NLRP3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628261	NM_001243133.2(NLRP3):c.2322-66C>T	NLRP3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628308	NM_001243133.2(NLRP3):c.2322-61G>A	NLRP3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628250	NM_001243133.2(NLRP3):c.2322-57T>C	NLRP3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628279	NM_001243133.2(NLRP3):c.2322-56G>A	NLRP3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628144	NM_001243133.2(NLRP3):c.2322-41_2322-40insAT	NLRP3	Insertion (intron variant)	not specified	GBenign
Select item 2628178	NM_001243133.2(NLRP3):c.2322-37_2322-36insTCTGAGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGATGT	NLRP3	Insertion (intron variant)	not specified	GBenign
Select item 2628120	NM_001243133.2(NLRP3):c.2322-40G>A	NLRP3	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1238514	NM_001243133.2(NLRP3):c.2492+54C>T	NLRP3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1259697	NM_001243133.2(NLRP3):c.2493-40G>A	NLRP3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign

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Items: 28