"PreventionGenetics, part of Exact Sciences"[submitter] AND "NLRP3"[ge - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2231156	NM_001243133.2(NLRP3):c.14G>A (p.Arg5His)	NLRP3 (R5H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 958913	NM_001243133.2(NLRP3):c.154C>G (p.Leu52Val)	NLRP3 (L54V +1 more)	Single nucleotide variant (missense variant)	NLRP3-related disorder +2 more	GUncertain significance
Select item 296940	NM_001243133.2(NLRP3):c.203T>C (p.Met68Thr)	NLRP3 (M70T +1 more)	Single nucleotide variant (missense variant)	Familial amyloid nephropathy with urticaria AND deafness +6 more	GBenign/Likely benign
Select item 138526	NM_001243133.2(NLRP3):c.207C>T (p.Ala69=)	NLRP3	Single nucleotide variant (synonymous variant)	Familial amyloid nephropathy with urticaria AND deafness +6 more	GBenign/Likely benign
Select item 1077243	NM_001243133.2(NLRP3):c.220G>A (p.Ala74Thr)	NLRP3 (A74T +1 more)	Single nucleotide variant (missense variant)	NLRP3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 234286	NM_001243133.2(NLRP3):c.224C>T (p.Ala75Val)	NLRP3 (A77V +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1253677	NM_001243133.2(NLRP3):c.225G>A (p.Ala75=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome +2 more	GLikely benign
Select item 296944	NM_001243133.2(NLRP3):c.423C>T (p.Tyr141=)	NLRP3	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 876773	NM_001243133.2(NLRP3):c.476G>T (p.Ser159Ile)	NLRP3 (S161I +1 more)	Single nucleotide variant (missense variant)	NLRP3-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1357902	NM_001243133.2(NLRP3):c.523C>T (p.His175Tyr)	NLRP3 (H177Y +1 more)	Single nucleotide variant (missense variant)	NLRP3-related disorder +1 more	GUncertain significance
Select item 4371	NM_001243133.2(NLRP3):c.592G>A (p.Val198Met)	NLRP3 (V198M +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1 +11 more	GConflicting classifications of pathogenicity
Select item 259562	NM_001243133.2(NLRP3):c.657C>T (p.Thr219=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome +5 more	GBenign
Select item 97966	NM_001243133.2(NLRP3):c.674C>T (p.Ala225Val)	NLRP3 (A227V +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1918444	NM_001243133.2(NLRP3):c.724_725delinsAA (p.Ala242Lys)	NLRP3 (A242K +1 more)	Indel (missense variant)	Cryopyrin associated periodic syndrome +1 more	GUncertain significance
Select item 138528	NM_001243133.2(NLRP3):c.726G>A (p.Ala242=)	NLRP3	Single nucleotide variant (synonymous variant)	Keratitis fugax hereditaria +6 more	GBenign
Select item 389188	NM_001243133.2(NLRP3):c.906C>T (p.Phe302=)	NLRP3	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 97986	NM_001243133.2(NLRP3):c.930C>T (p.Asp310=)	NLRP3	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 218548	NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=)	NLRP3	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 97918	NM_001243133.2(NLRP3):c.1231C>T (p.Leu411=)	NLRP3	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 296946	NM_001243133.2(NLRP3):c.1245C>T (p.Ile415=)	NLRP3	Single nucleotide variant (synonymous variant)	Chronic infantile neurological, cutaneous and articular syndrome +6 more	GConflicting classifications of pathogenicity
Select item 1694431	NM_001243133.2(NLRP3):c.1269G>A (p.Gln423=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 259560	NM_001243133.2(NLRP3):c.1302C>T (p.Ser434=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome +6 more	GBenign
Select item 97931	NM_001243133.2(NLRP3):c.1389C>T (p.His463=)	NLRP3	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign/Likely benign
Select item 138531	NM_001243133.2(NLRP3):c.1401C>T (p.Leu467=)	NLRP3	Single nucleotide variant (synonymous variant)	not provided +9 more	GBenign/Likely benign
Select item 97940	NM_001243133.2(NLRP3):c.1600C>T (p.Leu534=)	NLRP3	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign
Select item 2180013	NM_001243133.2(NLRP3):c.1629C>T (p.Asn543=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome +1 more	GLikely benign
Select item 536887	NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys)	NLRP3 (S549C +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome +8 more	GConflicting classifications of pathogenicity
Select item 97942	NM_001243133.2(NLRP3):c.1669A>G (p.Thr557Ala)	NLRP3 (T559A +1 more)	Single nucleotide variant (missense variant)	Chronic infantile neurological, cutaneous and articular syndrome +6 more	GUncertain significance
Select item 3050133	NM_001243133.2(NLRP3):c.1698C>T (p.Phe566=)	NLRP3	Single nucleotide variant (synonymous variant)	NLRP3-related disorder	GLikely benign
Select item 762555	NM_001243133.2(NLRP3):c.1899C>T (p.Tyr633=)	NLRP3	Single nucleotide variant (synonymous variant)	NLRP3-related disorder +1 more	GLikely benign
Select item 1952602	NM_001243133.2(NLRP3):c.1912G>A (p.Glu638Lys)	NLRP3 (E638K +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome +1 more	GUncertain significance
Select item 138533	NM_001243133.2(NLRP3):c.1920C>T (p.Phe640=)	NLRP3	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
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 245595	NM_001243133.2(NLRP3):c.2151-7T>C	NLRP3	Single nucleotide variant (intron variant)	NLRP3-related disorder +7 more	GBenign/Likely benign
Select item 2630133	NM_001243133.2(NLRP3):c.2154G>T (p.Leu718Phe)	NLRP3 (L718F +1 more)	Single nucleotide variant (missense variant +1 more)	NLRP3-related disorder	GUncertain significance
Select item 234290	NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly)	NLRP3 (S728G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 296949	NM_001243133.2(NLRP3):c.2185C>A (p.Arg729=)	NLRP3	Single nucleotide variant (synonymous variant +1 more)	Familial amyloid nephropathy with urticaria AND deafness +4 more	GBenign/Likely benign
Select item 3031598	NM_001243133.2(NLRP3):c.2322-5T>C	NLRP3	Single nucleotide variant (intron variant)	NLRP3-related disorder	GLikely benign
Select item 3030064	NM_001243133.2(NLRP3):c.2337C>G (p.Gly779=)	NLRP3	Single nucleotide variant (synonymous variant)	NLRP3-related disorder	GLikely benign
Select item 703154	NM_001243133.2(NLRP3):c.2364C>A (p.Ile788=)	NLRP3	Single nucleotide variant (synonymous variant)	NLRP3-related disorder +2 more	GBenign/Likely benign
Select item 296952	NM_001243133.2(NLRP3):c.2424C>T (p.Leu808=)	NLRP3	Single nucleotide variant (synonymous variant)	Familial amyloid nephropathy with urticaria AND deafness +6 more	GConflicting classifications of pathogenicity
Select item 234292	NM_001243133.2(NLRP3):c.2488C>A (p.Leu830Ile)	NLRP3 (L832I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1188124	NM_001243133.2(NLRP3):c.2575T>C (p.Tyr859His)	NLRP3 (Y802H +2 more)	Single nucleotide variant (missense variant +1 more)	Cryopyrin associated periodic syndrome +7 more	GPathogenic/Likely pathogenic
Select item 3032330	NM_001243133.2(NLRP3):c.2608G>A (p.Val870Ile)	NLRP3 (V813I +2 more)	Single nucleotide variant (missense variant +1 more)	NLRP3-related disorder	GUncertain significance
Select item 1013561	NM_001243133.2(NLRP3):c.2732A>G (p.Asn911Ser)	NLRP3 (N797S +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2636210	NM_001243133.2(NLRP3):c.2752C>T (p.Arg918Ter)	NLRP3 (R804* +3 more)	Single nucleotide variant (nonsense)	NLRP3-related disorder	GUncertain significance
Select item 234293	NM_001243133.2(NLRP3):c.2855C>T (p.Thr952Met)	NLRP3 (T954M +3 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 711518	NM_001243133.2(NLRP3):c.3048A>C (p.Leu1016Phe)	NLRP3 (L1016F +3 more)	Single nucleotide variant (missense variant)	Chronic infantile neurological, cutaneous and articular syndrome +7 more	GConflicting classifications of pathogenicity

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Items: 48