"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 296937	NM_001243133.2(NLRP3):c.-40G>T	NLRP3	Single nucleotide variant (5 prime UTR variant)	Familial cold autoinflammatory syndrome 1 +4 more	GBenign
Select item 430301	NM_001243133.2(NLRP3):c.172G>A (p.Asp58Asn)	NLRP3 (D60N +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 138526	NM_001243133.2(NLRP3):c.207C>T (p.Ala69=)	NLRP3	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 245593	NM_001243133.2(NLRP3):c.208G>A (p.Val70Met)	NLRP3 (V72M +1 more)	Single nucleotide variant (missense variant)	not provided +6 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)	NLRP3-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 742654	NM_001243133.2(NLRP3):c.240C>T (p.Asp80=)	NLRP3	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GBenign/Likely benign
Select item 1694434	NM_001243133.2(NLRP3):c.251A>G (p.Lys84Arg)	NLRP3 (K84R +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GLikely benign
Select item 1308186	NM_001243133.2(NLRP3):c.329G>A (p.Ser110Asn)	NLRP3 (S110N +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 1023990	NM_001243133.2(NLRP3):c.397+6C>T	NLRP3	Single nucleotide variant (intron variant)	Autoinflammatory syndrome +6 more	GUncertain significance
Select item 296942	NM_001243133.2(NLRP3):c.397+7G>A	NLRP3	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 1 +6 more	GBenign/Likely benign
Select item 234288	NM_001243133.2(NLRP3):c.404G>A (p.Arg135His)	NLRP3 (R137H +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 296944	NM_001243133.2(NLRP3):c.423C>T (p.Tyr141=)	NLRP3	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 1 +6 more	GBenign
Select item 1694438	NM_001243133.2(NLRP3):c.508C>T (p.Arg170Cys)	NLRP3 (R170C +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +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)	Cryopyrin associated periodic syndrome +10 more	GConflicting classifications of pathogenicity
Select item 745343	NM_001243133.2(NLRP3):c.606G>A (p.Lys202=)	NLRP3	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 795158	NM_001243133.2(NLRP3):c.627C>T (p.Pro209=)	NLRP3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 97966	NM_001243133.2(NLRP3):c.674C>T (p.Ala225Val)	NLRP3 (A227V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1301429	NM_001243133.2(NLRP3):c.717G>T (p.Leu239Phe)	NLRP3 (L239F +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 97969	NM_001243133.2(NLRP3):c.779G>C (p.Arg260Pro)	NLRP3 (R262P +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 245594	NM_001243133.2(NLRP3):c.789C>T (p.Ser263=)	NLRP3	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +3 more	GBenign/Likely benign
Select item 1364715	NM_001243133.2(NLRP3):c.865G>A (p.Val289Met)	NLRP3 (V289M +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome +1 more	GUncertain significance
Select item 97982	NM_001243133.2(NLRP3):c.914T>C (p.Leu305Pro)	NLRP3 (L307P +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GPathogenic/Likely pathogenic
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 97989	NM_001243133.2(NLRP3):c.937A>G (p.Ile313Val)	NLRP3 (I315V +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1 +7 more	GConflicting classifications of pathogenicity
Select item 1694439	NM_001243133.2(NLRP3):c.938T>C (p.Ile313Thr)	NLRP3 (I313T +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 97990	NM_001243133.2(NLRP3):c.944C>T (p.Pro315Leu)	NLRP3 (P317L +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1 +7 more	GConflicting classifications of pathogenicity
Select item 218548	NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=)	NLRP3	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +6 more	GBenign/Likely benign
Select item 429286	NM_001243133.2(NLRP3):c.1021G>A (p.Glu341Lys)	NLRP3 (E343K +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +7 more	GUncertain significance
Select item 97908	NM_001243133.2(NLRP3):c.1032G>A (p.Leu344=)	NLRP3	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +6 more	GBenign/Likely benign
Select item 97909	NM_001243133.2(NLRP3):c.1043C>T (p.Thr348Met)	NLRP3 (T350M +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome +4 more	GPathogenic
Select item 138530	NM_001243133.2(NLRP3):c.1044G>A (p.Thr348=)	NLRP3	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign
Select item 97910	NM_001243133.2(NLRP3):c.1051G>A (p.Val351Met)	NLRP3 (V353M +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1694428	NM_001243133.2(NLRP3):c.1057C>T (p.Leu353=)	NLRP3	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome	GUncertain significance
Select item 296945	NM_001243133.2(NLRP3):c.1119G>A (p.Glu373=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome +5 more	GBenign/Likely benign
Select item 1694429	NM_001243133.2(NLRP3):c.1140C>T (p.Phe380=)	NLRP3	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694430	NM_001243133.2(NLRP3):c.1190T>C (p.Ile397Thr)	NLRP3 (I397T +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 97918	NM_001243133.2(NLRP3):c.1231C>T (p.Leu411=)	NLRP3	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +7 more	GBenign/Likely benign
Select item 296946	NM_001243133.2(NLRP3):c.1245C>T (p.Ile415=)	NLRP3	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1694431	NM_001243133.2(NLRP3):c.1269G>A (p.Gln423=)	NLRP3	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 4370	NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val)	NLRP3 (A439V +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1 +7 more	GPathogenic/Likely pathogenic
Select item 385044	NM_001243133.2(NLRP3):c.1317G>A (p.Ala439=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 506654	NM_001243133.2(NLRP3):c.1323C>T (p.Tyr441=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 97929	NM_001243133.2(NLRP3):c.1374C>T (p.His458=)	NLRP3	Single nucleotide variant (synonymous variant)	Keratitis fugax hereditaria +7 more	GBenign/Likely benign
Select item 97930	NM_001243133.2(NLRP3):c.1383C>T (p.Cys461=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic 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 +7 more	GBenign/Likely benign
Select item 138531	NM_001243133.2(NLRP3):c.1401C>T (p.Leu467=)	NLRP3	Single nucleotide variant (synonymous variant)	Chronic infantile neurological, cutaneous and articular syndrome +8 more	GBenign/Likely benign
Select item 97934	NM_001243133.2(NLRP3):c.1463G>A (p.Arg488Lys)	NLRP3 (R490K +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1694432	NM_001243133.2(NLRP3):c.1562T>A (p.Met521Lys)	NLRP3 (M521K +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GLikely pathogenic
Select item 138532	NM_001243133.2(NLRP3):c.1584C>T (p.Ala528=)	NLRP3	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 97940	NM_001243133.2(NLRP3):c.1600C>T (p.Leu534=)	NLRP3	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign
Select item 1018794	NM_001243133.2(NLRP3):c.1642C>T (p.Arg548Cys)	NLRP3 (R548C +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 296948	NM_001243133.2(NLRP3):c.1645T>C (p.Leu549=)	NLRP3	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 4372	NM_001243133.2(NLRP3):c.1880A>G (p.Glu627Gly)	NLRP3 (E627G +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GLikely pathogenic
Select item 661151	NM_001243133.2(NLRP3):c.2012G>C (p.Cys671Ser)	NLRP3 (C671S +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome +6 more	GUncertain significance
Select item 259561	NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys)	NLRP3 (Q705K +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +7 more	GConflicting classifications of pathogenicity
Select item 138534	NM_001243133.2(NLRP3):c.2118C>T (p.Leu706=)	NLRP3	Single nucleotide variant (synonymous variant)	Chronic infantile neurological, cutaneous and articular syndrome +6 more	GConflicting classifications of pathogenicity
Select item 583341	NM_001243133.2(NLRP3):c.2120C>A (p.Pro707Gln)	NLRP3 (P709Q +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +8 more	GConflicting classifications of pathogenicity
Select item 389680	NM_001243133.2(NLRP3):c.2172T>A (p.Thr724=)	NLRP3	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +7 more	GBenign/Likely benign
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 +6 more	GConflicting classifications of pathogenicity
Select item 1694433	NM_001243133.2(NLRP3):c.2219G>A (p.Ser740Asn)	NLRP3 (S740N +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 1105985	NM_001243133.2(NLRP3):c.2241T>C (p.Ser747=)	NLRP3	Single nucleotide variant (synonymous variant +1 more)	Cryopyrin associated periodic syndrome +1 more	GLikely benign
Select item 704776	NM_001243133.2(NLRP3):c.2419G>A (p.Ala807Thr)	NLRP3 (A809T +2 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 296952	NM_001243133.2(NLRP3):c.2424C>T (p.Leu808=)	NLRP3	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 246017	NM_001243133.2(NLRP3):c.2492+8G>A	NLRP3	Single nucleotide variant (intron variant)	Autoinflammatory syndrome +2 more	GLikely benign
Select item 1694435	NM_001243133.2(NLRP3):c.2584G>C (p.Glu862Gln)	NLRP3 (E864Q +2 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +1 more	GLikely benign
Select item 755590	NM_001243133.2(NLRP3):c.2610C>T (p.Val870=)	NLRP3	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1694436	NM_001243133.2(NLRP3):c.2812G>A (p.Asp938Asn)	NLRP3 (D824N +3 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +6 more	GUncertain significance
Select item 234293	NM_001243133.2(NLRP3):c.2855C>T (p.Thr952Met)	NLRP3 (T954M +3 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome +6 more	GConflicting classifications of pathogenicity
Select item 843854	NM_001243133.2(NLRP3):c.2902A>G (p.Ser968Gly)	NLRP3 (S911G +3 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 791045	NM_001243133.2(NLRP3):c.2940C>T (p.Gly980=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome +2 more	GLikely benign
Select item 1694437	NM_001243133.2(NLRP3):c.3044C>T (p.Ala1015Val)	NLRP3 (A1015V +3 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 296956	NM_001243133.2(NLRP3):c.*230G>C	NLRP3	Single nucleotide variant (3 prime UTR variant)	Familial amyloid nephropathy with urticaria AND deafness +6 more	GBenign

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Items: 73