NLRP3[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2431177	NM_001243133.2(NLRP3):c.-748-307A>G	NLRP3	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 296923	NM_001243133.2(NLRP3):c.-710C>T	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Chronic infantile neurological, cutaneous and articular syndrome +2 more	GUncertain significance
Select item 876633	NM_001243133.2(NLRP3):c.-686C>T	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Familial cold autoinflammatory syndrome 1 +2 more	GUncertain significance
Select item 296924	NM_001243133.2(NLRP3):c.-685G>A	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Chronic infantile neurological, cutaneous and articular syndrome +2 more	GUncertain significance
Select item 296925	NM_001243133.2(NLRP3):c.-629C>T	NLRP3	Single nucleotide variant (intron variant +1 more)	Chronic infantile neurological, cutaneous and articular syndrome +2 more	GUncertain significance
Select item 296926	NM_001243133.2(NLRP3):c.-561T>G	NLRP3	Single nucleotide variant (5 prime UTR variant)	Chronic infantile neurological, cutaneous and articular syndrome +3 more	GBenign
Select item 296927	NM_001243133.2(NLRP3):c.-543A>T	NLRP3	Single nucleotide variant (5 prime UTR variant)	Chronic infantile neurological, cutaneous and articular syndrome +2 more	GBenign
Select item 296929	NM_001243133.2(NLRP3):c.-533C>T	NLRP3	Single nucleotide variant (5 prime UTR variant)	Chronic infantile neurological, cutaneous and articular syndrome +2 more	GBenign
Select item 296928	NM_001243133.2(NLRP3):c.-533C>G	NLRP3	Single nucleotide variant (5 prime UTR variant)	Chronic infantile neurological, cutaneous and articular syndrome +2 more	GUncertain significance
Select item 874739	NM_001243133.2(NLRP3):c.-523G>A	NLRP3	Single nucleotide variant (5 prime UTR variant)	Chronic infantile neurological, cutaneous and articular syndrome +2 more	GUncertain significance
Select item 296930	NM_001243133.2(NLRP3):c.-482dup	NLRP3	Duplication (5 prime UTR variant +1 more)	Familial cold autoinflammatory syndrome +2 more	GUncertain significance
Select item 103034	NM_001243133.2(NLRP3):c.-460G>A	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Chronic infantile neurological, cutaneous and articular syndrome +2 more	GUncertain significance
Select item 296931	NM_001243133.2(NLRP3):c.-411T>C	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Chronic infantile neurological, cutaneous and articular syndrome +3 more	GBenign
Select item 875680	NM_001243133.2(NLRP3):c.-407C>T	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Chronic infantile neurological, cutaneous and articular syndrome +2 more	GUncertain significance
Select item 876674	NM_001243133.2(NLRP3):c.-369G>A	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Familial amyloid nephropathy with urticaria AND deafness +2 more	GUncertain significance
Select item 876675	NM_001243133.2(NLRP3):c.-339C>T	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Familial amyloid nephropathy with urticaria AND deafness +2 more	GUncertain significance
Select item 296932	NM_001243133.2(NLRP3):c.-231G>A	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Chronic infantile neurological, cutaneous and articular syndrome +3 more	GBenign
Select item 873837	NM_001243133.2(NLRP3):c.-219G>A	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Chronic infantile neurological, cutaneous and articular syndrome +2 more	GUncertain significance
Select item 296933	NM_001243133.2(NLRP3):c.-203G>A	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GUncertain significance
Select item 2431154	NM_001243133.2(NLRP3):c.-146T>C	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Lung adenocarcinoma	GUncertain significance
Select item 296934	NM_001243133.2(NLRP3):c.-122T>C	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Familial cold autoinflammatory syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 2431153	NM_001243133.2(NLRP3):c.-121T>C	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Lung adenocarcinoma	GUncertain significance
Select item 1222545	NM_001243133.2(NLRP3):c.-79C>T	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 296935	NM_001243133.2(NLRP3):c.-74G>A	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Chronic infantile neurological, cutaneous and articular syndrome +2 more	GUncertain significance
Select item 810996	NM_001243133.2(NLRP3):c.-72G>A	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 296936	NM_001243133.2(NLRP3):c.-68C>T	NLRP3	Single nucleotide variant (5 prime UTR variant +1 more)	Chronic infantile neurological, cutaneous and articular syndrome +2 more	GUncertain significance
Select item 296937	NM_001243133.2(NLRP3):c.-40G>T	NLRP3	Single nucleotide variant (5 prime UTR variant)	Chronic infantile neurological, cutaneous and articular syndrome +4 more	GBenign
Select item 1708669	NM_001243133.2(NLRP3):c.10A>G (p.Thr4Ala)	NLRP3 (T4A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305073	NM_001243133.2(NLRP3):c.13C>T (p.Arg5Cys)	NLRP3 (R5C +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome +1 more	GUncertain significance
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 2031284	NM_001243133.2(NLRP3):c.15C>A (p.Arg5=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 862271	NM_001243133.2(NLRP3):c.18C>T (p.Cys6=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 2418815	NM_001243133.2(NLRP3):c.27C>T (p.Ala9=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 296938	NM_001243133.2(NLRP3):c.28A>C (p.Arg10=)	NLRP3	Single nucleotide variant (synonymous variant)	Familial amyloid nephropathy with urticaria AND deafness +2 more	GUncertain significance
Select item 2691257	NM_001243133.2(NLRP3):c.29G>T (p.Arg10Met)	NLRP3 (R10M +1 more)	Single nucleotide variant (missense variant)	Cerebral arteriovenous malformation	GPathogenic
Select item 2134309	NM_001243133.2(NLRP3):c.39G>A (p.Glu13=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 811400	NM_001243133.2(NLRP3):c.51T>C (p.Asp17=)	NLRP3	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 495298	NM_001243133.2(NLRP3):c.55G>C (p.Asp19His)	NLRP3 (D21H +1 more)	Single nucleotide variant (missense variant)	Keratitis fugax hereditaria	GLikely pathogenic
Select item 453147	NM_001243133.2(NLRP3):c.76C>T (p.His26Tyr)	NLRP3 (H28Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1721170	NM_001243133.2(NLRP3):c.79T>G (p.Leu27Val)	NLRP3 (L27V +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 1303512	NM_001243133.2(NLRP3):c.86A>T (p.Asp29Val)	NLRP3 (D29V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2696987	NM_001243133.2(NLRP3):c.91C>T (p.Pro31Ser)	NLRP3 (P31S +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 1430150	NM_001243133.2(NLRP3):c.92C>T (p.Pro31Leu)	NLRP3 (P31L +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 999770	NM_001243133.2(NLRP3):c.94C>T (p.Pro32Ser)	NLRP3 (P32S +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 1140007	NM_001243133.2(NLRP3):c.102G>A (p.Lys34=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 2750690	NM_001243133.2(NLRP3):c.104G>T (p.Gly35Val)	NLRP3 (G35V +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 2801907	NM_001243133.2(NLRP3):c.108C>T (p.Cys36=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 2544215	NM_001243133.2(NLRP3):c.109A>C (p.Ile37Leu)	NLRP3 (I37L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 812073	NM_001243133.2(NLRP3):c.111C>T (p.Ile37=)	NLRP3	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 851331	NM_001243133.2(NLRP3):c.112C>T (p.Pro38Ser)	NLRP3 (P40S +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 1714203	NM_001243133.2(NLRP3):c.113C>G (p.Pro38Arg)	NLRP3 (P38R +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 760721	NM_001243133.2(NLRP3):c.114C>T (p.Pro38=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 1015930	NM_001243133.2(NLRP3):c.118C>T (p.Pro40Ser)	NLRP3 (P40S +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 2060562	NM_001243133.2(NLRP3):c.120G>A (p.Pro40=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 875720	NM_001243133.2(NLRP3):c.122G>A (p.Arg41Lys)	NLRP3 (R43K +1 more)	Single nucleotide variant (missense variant)	Familial amyloid nephropathy with urticaria AND deafness +5 more	GUncertain significance
Select item 591795	NM_001243133.2(NLRP3):c.127C>T (p.Gln43Ter)	NLRP3 (Q45* +1 more)	Single nucleotide variant (nonsense)	Familial cold autoinflammatory syndrome 1 +4 more	GUncertain significance
Select item 1980301	NM_001243133.2(NLRP3):c.129G>A (p.Gln43=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 1719696	NM_001243133.2(NLRP3):c.131C>G (p.Thr44Arg)	NLRP3 (T44R +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 1061222	NM_001243133.2(NLRP3):c.139G>T (p.Ala47Ser)	NLRP3 (A47S +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 449689	NM_001243133.2(NLRP3):c.146A>G (p.His49Arg)	NLRP3 (H51R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1107892	NM_001243133.2(NLRP3):c.147T>C (p.His49=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome +5 more	GLikely benign
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 793925	NM_001243133.2(NLRP3):c.154C>T (p.Leu52=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 1122128	NM_001243133.2(NLRP3):c.159C>A (p.Ala53=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 1980929	NM_001243133.2(NLRP3):c.162G>A (p.Thr54=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 1307911	NM_001243133.2(NLRP3):c.169A>G (p.Ile57Val)	NLRP3 (I57V +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 732166	NM_001243133.2(NLRP3):c.171C>T (p.Ile57=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome +1 more	GLikely benign
Select item 521230	NM_001243133.2(NLRP3):c.171C>G (p.Ile57Met)	NLRP3 (I59M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 766109	NM_001243133.2(NLRP3):c.177C>T (p.Phe59=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 1373529	NM_001243133.2(NLRP3):c.179A>G (p.Asn60Ser)	NLRP3 (N62S +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 296939	NM_001243133.2(NLRP3):c.194C>G (p.Ala65Gly)	NLRP3 (A67G +1 more)	Single nucleotide variant (missense variant)	Chronic infantile neurological, cutaneous and articular syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2896993	NM_001243133.2(NLRP3):c.195G>C (p.Ala65=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 386615	NM_001243133.2(NLRP3):c.195G>A (p.Ala65=)	NLRP3	Single nucleotide variant (synonymous variant)	Keratitis fugax hereditaria +6 more	GLikely benign
Select item 296940	NM_001243133.2(NLRP3):c.203T>C (p.Met68Thr)	NLRP3 (M70T +1 more)	Single nucleotide variant (missense variant)	Chronic infantile neurological, cutaneous and articular syndrome +5 more	GBenign/Likely benign
Select item 138526	NM_001243133.2(NLRP3):c.207C>T (p.Ala69=)	NLRP3	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +5 more	GBenign/Likely benign
Select item 946603	NM_001243133.2(NLRP3):c.208G>C (p.Val70Leu)	NLRP3 (V70L +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome	GUncertain significance
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 1929242	NM_001243133.2(NLRP3):c.215T>A (p.Ile72Asn)	NLRP3 (I72N +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 469049	NM_001243133.2(NLRP3):c.219C>T (p.Phe73=)	NLRP3	Single nucleotide variant (synonymous variant)	Chronic infantile neurological, cutaneous and articular syndrome +5 more	GLikely 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 234295	NM_001243133.2(NLRP3):c.224C>A (p.Ala75Glu)	NLRP3 (A77E +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome +1 more	GUncertain significance
Select item 234286	NM_001243133.2(NLRP3):c.224C>T (p.Ala75Val)	NLRP3 (A77V +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1253677	NM_001243133.2(NLRP3):c.225G>A (p.Ala75=)	NLRP3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2761051	NM_001243133.2(NLRP3):c.234G>C (p.Arg78Ser)	NLRP3 (R80S +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 873888	NM_001243133.2(NLRP3):c.234G>A (p.Arg78=)	NLRP3	Single nucleotide variant (synonymous variant)	Chronic infantile neurological, cutaneous and articular syndrome +2 more	GUncertain significance
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 380686	NM_001243133.2(NLRP3):c.249G>A (p.Glu83=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome +1 more	GLikely 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 2035973	NM_001243133.2(NLRP3):c.260G>A (p.Arg87Lys)	NLRP3 (R87K +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 2799780	NM_001243133.2(NLRP3):c.267G>A (p.Glu89=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 618255	NM_001243133.2(NLRP3):c.269C>T (p.Pro90Leu)	NLRP3 (P92L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1587166	NM_001243133.2(NLRP3):c.270G>T (p.Pro90=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 805092	NM_001243133.2(NLRP3):c.270G>A (p.Pro90=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome +1 more	GLikely benign
Select item 2798310	NM_001243133.2(NLRP3):c.277+11G>C	NLRP3	Single nucleotide variant (intron variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 296941	NM_001243133.2(NLRP3):c.277+11G>A	NLRP3	Single nucleotide variant (intron variant)	Chronic infantile neurological, cutaneous and articular syndrome +6 more	GBenign/Likely benign
Select item 1632374	NM_001243133.2(NLRP3):c.277+13A>C	NLRP3	Single nucleotide variant (intron variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 2918330	NM_001243133.2(NLRP3):c.277+16A>G	NLRP3	Single nucleotide variant (intron variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 1152262	NM_001243133.2(NLRP3):c.277+17C>T	NLRP3	Single nucleotide variant (intron variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 2879536	NM_001243133.2(NLRP3):c.277+20T>C	NLRP3	Single nucleotide variant (intron variant)	Cryopyrin associated periodic syndrome	GLikely benign

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