ClinVar for MedGen (Select 1626346) - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2502900	NM_001243133.2(NLRP3):c.2630C>G (p.Ala877Gly)	NLRP3 (A820G +2 more)	Single nucleotide variant (missense variant +1 more)	Cryopyrin associated periodic 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 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 1333763	NM_001243133.2(NLRP3):c.2047C>T (p.His683Tyr)	NLRP3 (H683Y +1 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 34, with or without inflammation	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)	NLRP3-related disorder +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 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)	Chronic infantile neurological, cutaneous and articular syndrome +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)	Familial amyloid nephropathy with urticaria AND deafness +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 948032	NM_001243133.2(NLRP3):c.1153T>C (p.Ser385Pro)	NLRP3 (S387P +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome +1 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 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 859919	NM_001243133.2(NLRP3):c.1643G>A (p.Arg548His)	NLRP3 (R550H +1 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome +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 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)	not provided +7 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)	not specified +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 446409	NM_001243133.2(NLRP3):c.2753G>A (p.Arg918Gln)	NLRP3 (R918Q +3 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome +2 more	GConflicting classifications of pathogenicity
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 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 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 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 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 246348	NM_001243133.2(NLRP3):c.2321+11G>A	NLRP3	Single nucleotide variant (intron variant)	Cryopyrin associated periodic syndrome +6 more	GLikely benign
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 234474	NM_001243133.2(NLRP3):c.2392C>A (p.Leu798Met)	NLRP3 (L800M +2 more)	Single nucleotide variant (missense variant)	Keratitis fugax hereditaria +6 more	GUncertain significance
Select item 234307	NM_001243133.2(NLRP3):c.2784A>C (p.Lys928Asn)	NLRP3 (K930N +3 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome +6 more	GUncertain significance
Select item 234303	NM_001243133.2(NLRP3):c.2536G>C (p.Ala846Pro)	NLRP3 (A848P +2 more)	Single nucleotide variant (missense variant +1 more)	Keratitis fugax hereditaria +5 more	GUncertain significance
Select item 234299	NM_001243133.2(NLRP3):c.2299G>A (p.Gly767Ser)	NLRP3 (G769S +1 more)	Single nucleotide variant (missense variant +1 more)	Cryopyrin associated periodic syndrome +6 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 138531	NM_001243133.2(NLRP3):c.1401C>T (p.Leu467=)	NLRP3	Single nucleotide variant (synonymous variant)	Cryopyrin associated periodic syndrome +9 more	GBenign/Likely benign
Select item 138527	NM_001243133.2(NLRP3):c.309T>C (p.Thr103=)	NLRP3	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 103046	NM_001243133.2(NLRP3):c.488A>G (p.Asn163Ser)	NLRP3 (N165S +1 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 34, with or without inflammation +6 more	GUncertain significance
Select item 97960	NM_001243133.2(NLRP3):c.2576A>G (p.Tyr859Cys)	NLRP3 (Y861C +2 more)	Single nucleotide variant (missense variant +1 more)	Chronic infantile neurological, cutaneous and articular syndrome +5 more	GPathogenic/Likely pathogenic
Select item 97942	NM_001243133.2(NLRP3):c.1669A>G (p.Thr557Ala)	NLRP3 (T559A +1 more)	Single nucleotide variant (missense variant)	NLRP3-related disorder +6 more	GUncertain significance
Select item 97929	NM_001243133.2(NLRP3):c.1374C>T (p.His458=)	NLRP3	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +7 more	GBenign/Likely benign
Select item 4379	NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro)	NLRP3 (L353P +1 more)	Single nucleotide variant (missense variant)	not specified +7 more	GPathogenic
Select item 4371	NM_001243133.2(NLRP3):c.592G>A (p.Val198Met)	NLRP3 (V198M +1 more)	Single nucleotide variant (missense variant)	Kidney disorder +11 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)	Autoinflammatory syndrome +7 more	GPathogenic/Likely pathogenic

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Items: 79