"Invitae"[submitter] AND "NLRP3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1305073	NM_001243133.2(NLRP3):c.13C>T (p.Arg5Cys)	NLRP3 (R5C +1 more)	Single nucleotide variant (missense variant)	not provided +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 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 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 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 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)	Chronic infantile neurological, cutaneous and articular syndrome +5 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)	Cryopyrin associated periodic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1107892	NM_001243133.2(NLRP3):c.147T>C (p.His49=)	NLRP3	Single nucleotide variant (synonymous variant)	Keratitis fugax hereditaria +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 condition +1 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 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 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)	Cryopyrin associated periodic syndrome +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)	Cryopyrin associated periodic syndrome +6 more	GBenign/Likely benign
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 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)	Cryopyrin associated periodic syndrome +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)	Cryopyrin associated periodic 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 condition +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)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 1253677	NM_001243133.2(NLRP3):c.225G>A (p.Ala75=)	NLRP3	Single nucleotide variant (synonymous variant)	NLRP3-related condition +2 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 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 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)	Cryopyrin associated periodic syndrome +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
Select item 618761	NM_001243133.2(NLRP3):c.278-45T>C	NLRP3	Single nucleotide variant (intron variant)	Cryopyrin associated periodic syndrome +1 more	GBenign
Select item 2996778	NM_001243133.2(NLRP3):c.278-10del	NLRP3	Deletion (intron variant)	Cryopyrin associated periodic syndrome	GBenign
Select item 2854390	NM_001243133.2(NLRP3):c.278-17T>C	NLRP3	Single nucleotide variant (intron variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 1655541	NM_001243133.2(NLRP3):c.278-16T>C	NLRP3	Single nucleotide variant (intron variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 759230	NM_001243133.2(NLRP3):c.278-10T>C	NLRP3	Single nucleotide variant (intron variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 766553	NM_001243133.2(NLRP3):c.278-6T>C	NLRP3	Single nucleotide variant (intron variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 1307162	NM_001243133.2(NLRP3):c.282A>T (p.Ser94=)	NLRP3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1125663	NM_001243133.2(NLRP3):c.282A>G (p.Ser94=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 103040	NM_001243133.2(NLRP3):c.291A>G (p.Ala97=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 874838	NM_001243133.2(NLRP3):c.292C>G (p.Arg98Gly)	NLRP3 (R100G +1 more)	Single nucleotide variant (missense variant)	Familial amyloid nephropathy with urticaria AND deafness +3 more	GUncertain significance
Select item 234576	NM_001243133.2(NLRP3):c.292C>T (p.Arg98Cys)	NLRP3 (R100C +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome +1 more	GUncertain significance
Select item 469054	NM_001243133.2(NLRP3):c.293G>A (p.Arg98His)	NLRP3 (R100H +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 1061267	NM_001243133.2(NLRP3):c.299C>T (p.Ser100Leu)	NLRP3 (S100L +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 69168	NM_001243133.2(NLRP3):c.300G>A (p.Ser100=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome +1 more	GBenign
Select item 2769154	NM_001243133.2(NLRP3):c.302A>G (p.Asn101Ser)	NLRP3 (N103S +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 658304	NM_001243133.2(NLRP3):c.303T>A (p.Asn101Lys)	NLRP3 (N101K +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 138527	NM_001243133.2(NLRP3):c.309T>C (p.Thr103=)	NLRP3	Single nucleotide variant (synonymous variant)	Familial amyloid nephropathy with urticaria AND deafness +7 more	GBenign/Likely benign
Select item 2708079	NM_001243133.2(NLRP3):c.318C>T (p.Cys106=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 1308186	NM_001243133.2(NLRP3):c.329G>A (p.Ser110Asn)	NLRP3 (S110N +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +7 more	GUncertain significance
Select item 1123844	NM_001243133.2(NLRP3):c.339G>A (p.Glu113=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 1714214	NM_001243133.2(NLRP3):c.346A>T (p.Met116Leu)	NLRP3 (M116L +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 2418865	NM_001243133.2(NLRP3):c.348G>A (p.Met116Ile)	NLRP3 (M116I +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 1927335	NM_001243133.2(NLRP3):c.349G>A (p.Gly117Ser)	NLRP3 (G117S +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 2784063	NM_001243133.2(NLRP3):c.351T>C (p.Gly117=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 1552720	NM_001243133.2(NLRP3):c.357G>A (p.Leu119=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 1356737	NM_001243133.2(NLRP3):c.358G>T (p.Glu120Ter)	NLRP3 (E120* +1 more)	Single nucleotide variant (nonsense)	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 515730	NM_001243133.2(NLRP3):c.369G>A (p.Ser123=)	NLRP3	Single nucleotide variant (synonymous variant)	not specified +6 more	GLikely benign
Select item 1879125	NM_001243133.2(NLRP3):c.379A>G (p.Ile127Val)	NLRP3 (I127V +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome +1 more	GUncertain significance
Select item 234287	NM_001243133.2(NLRP3):c.386A>G (p.Lys129Arg)	NLRP3 (K131R +1 more)	Single nucleotide variant (missense variant)	Keratitis fugax hereditaria +6 more	GUncertain significance
Select item 861871	NM_001243133.2(NLRP3):c.397+5G>T	NLRP3	Single nucleotide variant (intron variant)	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 653385	NM_001243133.2(NLRP3):c.397+5G>A	NLRP3	Single nucleotide variant (intron variant)	Cryopyrin associated periodic syndrome	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 1132354	NM_001243133.2(NLRP3):c.397+7G>T	NLRP3	Single nucleotide variant (intron variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 296942	NM_001243133.2(NLRP3):c.397+7G>A	NLRP3	Single nucleotide variant (intron variant)	Autoinflammatory syndrome +6 more	GBenign/Likely benign
Select item 1542767	NM_001243133.2(NLRP3):c.397+11G>T	NLRP3	Single nucleotide variant (intron variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 1660591	NM_001243133.2(NLRP3):c.397+17G>T	NLRP3	Single nucleotide variant (intron variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 875772	NM_001243133.2(NLRP3):c.398-15C>T	NLRP3	Single nucleotide variant (intron variant)	Familial amyloid nephropathy with urticaria AND deafness +4 more	GBenign
Select item 296943	NM_001243133.2(NLRP3):c.398-5C>T	NLRP3	Single nucleotide variant (intron variant)	Cryopyrin associated periodic syndrome +3 more	GBenign/Likely benign
Select item 2995127	NM_001243133.2(NLRP3):c.398-4G>T	NLRP3	Single nucleotide variant (intron variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 1102263	NM_001243133.2(NLRP3):c.398-4G>A	NLRP3	Single nucleotide variant (intron variant)	Cryopyrin associated periodic syndrome	GLikely benign
Select item 843485	NM_001243133.2(NLRP3):c.403C>T (p.Arg135Cys)	NLRP3 (R137C +1 more)	Single nucleotide variant (missense variant)	Familial amyloid nephropathy with urticaria AND deafness +5 more	GUncertain significance

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