ClinVar for MedGen (Select 1647324) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2431878	NM_001243133.2(NLRP3):c.1493C>G (p.Ser498Cys)	NLRP3 (S498C +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	GUncertain significance
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 1609188	NM_001243133.2(NLRP3):c.2058C>T (p.Pro686=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome +5 more	GLikely benign
Select item 1507177	NM_001243133.2(NLRP3):c.1921G>A (p.Val641Met)	NLRP3 (V641M +1 more)	Single nucleotide variant (missense variant)	Familial amyloid nephropathy with urticaria AND deafness +5 more	GUncertain significance
Select item 1496785	NM_001243133.2(NLRP3):c.2530G>T (p.Asp844Tyr)	NLRP3 (D844Y +2 more)	Single nucleotide variant (missense variant +1 more)	Familial amyloid nephropathy with urticaria AND deafness +5 more	GUncertain significance
Select item 1468395	NM_001243133.2(NLRP3):c.2342C>T (p.Ser781Leu)	NLRP3 (S724L +2 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome +5 more	GUncertain significance
Select item 1467929	NM_001243133.2(NLRP3):c.2330G>A (p.Arg777His)	NLRP3 (R777H +2 more)	Single nucleotide variant (missense variant)	Familial amyloid nephropathy with urticaria AND deafness +6 more	GUncertain significance
Select item 1446237	NM_001243133.2(NLRP3):c.2273T>C (p.Val758Ala)	NLRP3 (V758A +1 more)	Single nucleotide variant (missense variant +1 more)	Hearing loss, autosomal dominant 34, with or without inflammation +6 more	GConflicting classifications of pathogenicity
Select item 1350883	NM_001243133.2(NLRP3):c.2387A>G (p.Gln796Arg)	NLRP3 (Q739R +2 more)	Single nucleotide variant (missense variant)	Chronic infantile neurological, cutaneous and articular syndrome +5 more	GUncertain significance
Select item 1350441	NM_001243133.2(NLRP3):c.2285C>T (p.Thr762Met)	NLRP3 (T762M +1 more)	Single nucleotide variant (missense variant +1 more)	Chronic infantile neurological, cutaneous and articular syndrome +5 more	GUncertain significance
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 1307911	NM_001243133.2(NLRP3):c.169A>G (p.Ile57Val)	NLRP3 (I57V +1 more)	Single nucleotide variant (missense variant)	Keratitis fugax hereditaria +5 more	GUncertain significance
Select item 1225261	NM_001243133.2(NLRP3):c.2150+16T>C	NLRP3	Single nucleotide variant (intron variant)	Cryopyrin associated periodic syndrome +6 more	GBenign/Likely 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 1167284	NM_001243133.2(NLRP3):c.1623G>A (p.Arg541=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome +5 more	GBenign/Likely benign
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 1096997	NM_001243133.2(NLRP3):c.2709C>G (p.Ser903=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome +6 more	GBenign/Likely benign
Select item 1061651	NM_001243133.2(NLRP3):c.1158T>A (p.Asp386Glu)	NLRP3 (D386E +1 more)	Single nucleotide variant (missense variant)	Familial amyloid nephropathy with urticaria AND deafness +3 more	GUncertain significance
Select item 1058144	NM_001243133.2(NLRP3):c.1371G>T (p.Glu457Asp)	NLRP3 (E457D +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1051337	NM_001243133.2(NLRP3):c.2680C>T (p.Leu894Phe)	NLRP3 (L780F +3 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome +5 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 1013562	NM_001243133.2(NLRP3):c.2856G>A (p.Thr952=)	NLRP3	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 1 +6 more	GLikely benign
Select item 1001047	NM_001243133.2(NLRP3):c.2912A>C (p.Lys971Thr)	NLRP3 (K857T +3 more)	Single nucleotide variant (missense variant)	Chronic infantile neurological, cutaneous and articular syndrome +5 more	GUncertain significance
Select item 995662	NM_001243133.2(NLRP3):c.2336G>A (p.Gly779Asp)	NLRP3 (G722D +2 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome +6 more	GUncertain significance
Select item 971445	NM_001243133.2(NLRP3):c.1918T>G (p.Phe640Val)	NLRP3 (F640V +1 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 34, with or without inflammation +5 more	GUncertain significance
Select item 953975	NM_001243133.2(NLRP3):c.2244C>G (p.Asp748Glu)	NLRP3 (D748E +1 more)	Single nucleotide variant (missense variant +1 more)	Keratitis fugax hereditaria +5 more	GUncertain significance
Select item 953918	NM_001243133.2(NLRP3):c.1090C>A (p.Arg364=)	NLRP3	Single nucleotide variant (synonymous variant)	Keratitis fugax hereditaria +5 more	GConflicting classifications of pathogenicity
Select item 952546	NM_001243133.2(NLRP3):c.564C>A (p.Ile188=)	NLRP3	Single nucleotide variant (synonymous variant)	Keratitis fugax hereditaria +5 more	GUncertain significance
Select item 946684	NM_001243133.2(NLRP3):c.2982G>C (p.Gln994His)	NLRP3 (Q880H +3 more)	Single nucleotide variant (missense variant)	Keratitis fugax hereditaria +6 more	GUncertain significance
Select item 946043	NM_001243133.2(NLRP3):c.2686T>C (p.Ser896Pro)	NLRP3 (S782P +3 more)	Single nucleotide variant (missense variant)	Chronic infantile neurological, cutaneous and articular syndrome +6 more	GConflicting classifications of pathogenicity
Select item 877015	NM_004895.4(NLRP3):c.*431G>A	NLRP3	Single nucleotide variant	Familial cold autoinflammatory syndrome 1 +2 more	GUncertain significance
Select item 876817	NM_001243133.2(NLRP3):c.964A>G (p.Lys322Glu)	NLRP3 (K324E +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1 +2 more	GUncertain significance
Select item 876773	NM_001243133.2(NLRP3):c.476G>T (p.Ser159Ile)	NLRP3 (S161I +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1 +4 more	GConflicting classifications of pathogenicity
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 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 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 876055	NM_004895.4(NLRP3):c.*378A>C	NLRP3	Single nucleotide variant	Familial cold autoinflammatory syndrome 1 +2 more	GUncertain significance
Select item 875986	NM_001243133.2(NLRP3):c.2598A>G (p.Gly866=)	NLRP3	Single nucleotide variant (synonymous variant +1 more)	Chronic infantile neurological, cutaneous and articular syndrome +2 more	GBenign
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 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 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 875106	NM_001243133.2(NLRP3):c.*139T>G	NLRP3	Single nucleotide variant (3 prime UTR variant)	Chronic infantile neurological, cutaneous and articular syndrome +2 more	GUncertain significance
Select item 875057	NM_001243133.2(NLRP3):c.2433C>T (p.Phe811=)	NLRP3	Single nucleotide variant (synonymous variant)	Chronic infantile neurological, cutaneous and articular syndrome +3 more	GBenign/Likely benign
Select item 874999	NM_001243133.2(NLRP3):c.1780T>C (p.Leu594=)	NLRP3	Single nucleotide variant (synonymous variant)	Familial amyloid nephropathy with urticaria AND deafness +3 more	GConflicting classifications of pathogenicity
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 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 874175	NM_001243133.2(NLRP3):c.*116G>T	NLRP3	Single nucleotide variant (3 prime UTR variant)	Familial amyloid nephropathy with urticaria AND deafness +2 more	GBenign
Select item 874174	NM_001243133.2(NLRP3):c.*2A>G	NLRP3	Single nucleotide variant (3 prime UTR variant)	Familial amyloid nephropathy with urticaria AND deafness +2 more	GUncertain significance
Select item 874123	NM_001243133.2(NLRP3):c.2255G>A (p.Gly752Glu)	NLRP3 (G752E +1 more)	Single nucleotide variant (missense variant +1 more)	Familial amyloid nephropathy with urticaria AND deafness +2 more	GUncertain significance
Select item 873944	NM_001243133.2(NLRP3):c.565G>A (p.Gly189Ser)	NLRP3 (G189S +1 more)	Single nucleotide variant (missense variant)	Familial amyloid nephropathy with urticaria AND deafness +3 more	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 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 859919	NM_001243133.2(NLRP3):c.1643G>A (p.Arg548His)	NLRP3 (R550H +1 more)	Single nucleotide variant (missense variant)	Familial amyloid nephropathy with urticaria AND deafness +6 more	GUncertain significance
Select item 853955	NM_001243133.2(NLRP3):c.2270G>C (p.Arg757Thr)	NLRP3 (R757T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
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
Select item 836449	NM_001243133.2(NLRP3):c.1153T>G (p.Ser385Ala)	NLRP3 (S385A +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 827985	NM_001243133.2(NLRP3):c.2834+1G>A	NLRP3	Single nucleotide variant (splice donor variant)	Familial amyloid nephropathy with urticaria AND deafness +4 more	GUncertain significance
Select item 805093	NM_001243133.2(NLRP3):c.2951T>A (p.Val984Asp)	NLRP3 (V986D +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 801645	NM_001243133.2(NLRP3):c.277+83_277+85del	NLRP3	Deletion (intron variant)	not specified +1 more	GBenign
Select item 765309	NM_001243133.2(NLRP3):c.1440C>A (p.Ile480=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome +3 more	GBenign/Likely benign
Select item 761839	NM_001243133.2(NLRP3):c.726G>T (p.Ala242=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome +5 more	GLikely benign
Select item 750202	NM_001243133.2(NLRP3):c.1665C>T (p.Asp555=)	NLRP3	Single nucleotide variant (synonymous variant)	Keratitis fugax hereditaria +7 more	GBenign/Likely benign
Select item 711518	NM_001243133.2(NLRP3):c.3048A>C (p.Leu1016Phe)	NLRP3 (L1016F +3 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome +7 more	GConflicting classifications of pathogenicity
Select item 706519	NM_001243133.2(NLRP3):c.2505C>T (p.Cys835=)	NLRP3	Single nucleotide variant (synonymous variant +1 more)	Cryopyrin associated periodic syndrome +4 more	GConflicting classifications of pathogenicity
Select item 661151	NM_001243133.2(NLRP3):c.2012G>C (p.Cys671Ser)	NLRP3 (C671S +1 more)	Single nucleotide variant (missense variant)	Familial amyloid nephropathy with urticaria AND deafness +6 more	GUncertain significance
Select item 651300	NM_001243133.2(NLRP3):c.2908C>T (p.Arg970Ter)	NLRP3 (R972* +3 more)	Single nucleotide variant (nonsense)	Familial amyloid nephropathy with urticaria AND deafness +5 more	GUncertain significance
Select item 625986	NM_001243133.2(NLRP3):c.2098G>A (p.Asp700Asn)	NLRP3 (D702N +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 591795	NM_001243133.2(NLRP3):c.127C>T (p.Gln43Ter)	NLRP3 (Q45* +1 more)	Single nucleotide variant (nonsense)	Keratitis fugax hereditaria +4 more	GUncertain significance
Select item 583341	NM_001243133.2(NLRP3):c.2120C>A (p.Pro707Gln)	NLRP3 (P709Q +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +7 more	GConflicting classifications of pathogenicity
Select item 570991	NM_001243133.2(NLRP3):c.1814A>T (p.Glu605Val)	NLRP3 (E607V +1 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 34, with or without inflammation +5 more	GUncertain significance
Select item 536887	NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys)	NLRP3 (S549C +1 more)	Single nucleotide variant (missense variant)	Chronic infantile neurological, cutaneous and articular syndrome +8 more	GConflicting classifications of pathogenicity
Select item 536881	NM_001243133.2(NLRP3):c.1090C>T (p.Arg364Trp)	NLRP3 (R366W +1 more)	Single nucleotide variant (missense variant)	Chronic infantile neurological, cutaneous and articular syndrome +5 more	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 506660	NM_001243133.2(NLRP3):c.2492+13C>T	NLRP3	Single nucleotide variant (intron variant)	Hearing loss, autosomal dominant 34, with or without inflammation +6 more	GLikely benign
Select item 469051	NM_001243133.2(NLRP3):c.2703T>G (p.Ala901=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome +5 more	GLikely benign
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 449120	NM_001243133.2(NLRP3):c.638A>G (p.His213Arg)	NLRP3 (H215R +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 449000	NM_001243133.2(NLRP3):c.1936G>T (p.Asp646Tyr)	NLRP3 (D648Y +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1 +6 more	GUncertain significance
Select item 429286	NM_001243133.2(NLRP3):c.1021G>A (p.Glu341Lys)	NLRP3 (E343K +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 418133	NM_001243133.2(NLRP3):c.1625C>T (p.Thr542Met)	NLRP3 (T544M +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome +6 more	GUncertain significance
Select item 403243	NM_001243133.2(NLRP3):c.780A>G (p.Arg260=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome +6 more	GBenign
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 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 296962	NM_004895.4(NLRP3):c.*604A>C	NLRP3	Single nucleotide variant	Familial cold autoinflammatory syndrome 1 +2 more	GUncertain significance
Select item 296961	NM_004895.4(NLRP3):c.*489C>T	NLRP3	Single nucleotide variant	Familial amyloid nephropathy with urticaria AND deafness +2 more	GBenign
Select item 296960	NM_004895.4(NLRP3):c.*396T>A	NLRP3	Single nucleotide variant	Familial amyloid nephropathy with urticaria AND deafness +2 more	GBenign
Select item 296956	NM_001243133.2(NLRP3):c.*230G>C	NLRP3	Single nucleotide variant (3 prime UTR variant)	Cryopyrin associated periodic syndrome +5 more	GBenign
Select item 296954	NM_001243133.2(NLRP3):c.3042T>C (p.Ser1014=)	NLRP3	Single nucleotide variant (synonymous variant)	Chronic infantile neurological, cutaneous and articular syndrome +2 more	GUncertain significance
Select item 296953	NM_001243133.2(NLRP3):c.2632A>G (p.Lys878Glu)	NLRP3 (K880E +2 more)	Single nucleotide variant (missense variant +1 more)	Chronic infantile neurological, cutaneous and articular syndrome +2 more	GUncertain significance
Select item 296952	NM_001243133.2(NLRP3):c.2424C>T (p.Leu808=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome +6 more	GConflicting classifications of pathogenicity
Select item 296951	NM_001243133.2(NLRP3):c.2301C>G (p.Gly767=)	NLRP3	Single nucleotide variant (synonymous variant +1 more)	Chronic infantile neurological, cutaneous and articular syndrome +5 more	GBenign/Likely benign
Select item 296950	NM_001243133.2(NLRP3):c.2214C>T (p.Ser738=)	NLRP3	Single nucleotide variant (synonymous variant +1 more)	Chronic infantile neurological, cutaneous and articular syndrome +6 more	GBenign/Likely benign
Select item 296949	NM_001243133.2(NLRP3):c.2185C>A (p.Arg729=)	NLRP3	Single nucleotide variant (synonymous variant +1 more)	Chronic infantile neurological, cutaneous and articular syndrome +4 more	GBenign/Likely benign
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 296947	NM_001243133.2(NLRP3):c.1361G>A (p.Gly454Glu)	NLRP3 (G456E +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 296946	NM_001243133.2(NLRP3):c.1245C>T (p.Ile415=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome +6 more	GConflicting classifications of pathogenicity
Select item 296945	NM_001243133.2(NLRP3):c.1119G>A (p.Glu373=)	NLRP3	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +5 more	GBenign/Likely benign
Select item 296944	NM_001243133.2(NLRP3):c.423C>T (p.Tyr141=)	NLRP3	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +7 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 296942	NM_001243133.2(NLRP3):c.397+7G>A	NLRP3	Single nucleotide variant (intron variant)	Autoinflammatory syndrome +6 more	GBenign/Likely benign

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