Related gene-specific medical variations for Gene (Select 114548) - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247787	NC_000001.10:g.(?_247582097)_(247611806_?)dup	NLRP3	Duplication	Cryopyrin associated periodic syndrome	GUncertain significance
Select item 3065149	NM_001243133.2(NLRP3):c.2371G>T (p.Val791Phe)	NLRP3 (V734F +2 more)	Single nucleotide variant (missense variant)	Familial amyloid nephropathy with urticaria AND deafness	GUncertain significance
Select item 3064558	NM_001243133.2(NLRP3):c.2377A>T (p.Ser793Cys)	NLRP3 (S736C +2 more)	Single nucleotide variant (missense variant)	Familial amyloid nephropathy with urticaria AND deafness	GUncertain significance
Select item 2687869	NM_001243133.2(NLRP3):c.278-1889G>C	NLRP3	Single nucleotide variant (intron variant)	Long COVID-19	GLikely risk allele
Select item 2434380	NM_001243133.2(NLRP3):c.1798C>T (p.Gln600Ter)	NLRP3 (Q600* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1809712	NM_001243133.2(NLRP3):c.1322A>G (p.Tyr441Cys)	NLRP3 (Y441C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1693286	NM_001243133.2(NLRP3):c.2926A>C (p.Asn976His)	NLRP3 (N862H +3 more)	Single nucleotide variant (missense variant)	Cryopyrin associated periodic syndrome +1 more	GUncertain significance
Select item 811932	NM_001243133.2(NLRP3):c.2343G>T (p.Ser781=)	NLRP3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 633677	NM_001243133.2(NLRP3):c.517A>G (p.Lys173Glu)	NLRP3 (K175E +1 more)	Single nucleotide variant (missense variant)	not provided	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 133258	NM_004895.3:c.3006-45_3006-44del	NLRP3	Deletion	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 103045	NM_001243133.2(NLRP3):c.398-85C>T	NLRP3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103044	NM_001243133.2(NLRP3):c.397+42T>C	NLRP3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103043	NM_001243133.2(NLRP3):c.397+139T>C	NLRP3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103042	NM_001243133.2(NLRP3):c.3082dup (p.Val1028fs)	NLRP3 (V1028fs +3 more)	Duplication (frameshift variant)	not provided	Gnot provided
Select item 103041	NM_001243133.2(NLRP3):c.3005+129T>C	NLRP3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103038	NM_001243133.2(NLRP3):c.278-28G>A	NLRP3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103037	NM_001243133.2(NLRP3):c.2493-7A>T	NLRP3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103036	NM_001243133.2(NLRP3):c.2151-126G>A	NLRP3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103035	NM_001243133.2(NLRP3):c.2151-109C>A	NLRP3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 97993	NM_001243133.2(NLRP3):c.993C>A (p.Ser331Arg)	NLRP3 (S333R +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97991	NM_001243133.2(NLRP3):c.973C>T (p.Arg325Trp)	NLRP3 (R327W +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97988	NM_001243133.2(NLRP3):c.935A>C (p.His312Pro)	NLRP3 (H314P +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97984	NM_001243133.2(NLRP3):c.916C>G (p.Gln306Glu)	NLRP3 (Q308E +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97983	NM_001243133.2(NLRP3):c.916C>A (p.Gln306Lys)	NLRP3 (Q308K +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97979	NM_001243133.2(NLRP3):c.907G>C (p.Asp303His)	NLRP3 (D305H +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97976	NM_001243133.2(NLRP3):c.791T>G (p.Leu264Arg)	NLRP3 (L266R +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97975	NM_001243133.2(NLRP3):c.791T>A (p.Leu264His)	NLRP3 (L266H +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97974	NM_001243133.2(NLRP3):c.790C>T (p.Leu264Phe)	NLRP3 (L266F +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97971	NM_001243133.2(NLRP3):c.785T>C (p.Val262Ala)	NLRP3 (V264A +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97970	NM_001243133.2(NLRP3):c.779G>T (p.Arg260Leu)	NLRP3 (R262L +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97968	NM_001243133.2(NLRP3):c.777T>G (p.Cys259Trp)	NLRP3 (C261W +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97962	NM_001243133.2(NLRP3):c.443G>A (p.Cys148Tyr)	NLRP3 (C150Y +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97961	NM_001243133.2(NLRP3):c.398-56C>T	NLRP3	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97957	NM_001243133.2(NLRP3):c.2129C>G (p.Ser710Cys)	NLRP3 (S712C +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97956	NM_001243133.2(NLRP3):c.2102T>C (p.Met701Thr)	NLRP3 (M703T +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97954	NM_001243133.2(NLRP3):c.2062G>A (p.Glu688Lys)	NLRP3 (E690K +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97953	NM_001243133.2(NLRP3):c.1985T>C (p.Met662Thr)	NLRP3 (M664T +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97952	NM_001243133.2(NLRP3):c.1976T>A (p.Met659Lys)	NLRP3 (M661K +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97951	NM_001243133.2(NLRP3):c.1896G>T (p.Leu632Phe)	NLRP3 (L634F +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97950	NM_001243133.2(NLRP3):c.1760C>T (p.Thr587Ile)	NLRP3 (T589I +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97949	NM_001243133.2(NLRP3):c.1714A>T (p.Ile572Phe)	NLRP3 (I574F +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97947	NM_001243133.2(NLRP3):c.1709A>T (p.Tyr570Phe)	NLRP3 (Y572F +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97943	NM_001243133.2(NLRP3):c.1687T>A (p.Tyr563Asn)	NLRP3 (Y565N +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97941	NM_001243133.2(NLRP3):c.1660C>T (p.Arg554Ter)	NLRP3 (R556* +1 more)	Single nucleotide variant (nonsense)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97938	NM_001243133.2(NLRP3):c.1569C>G (p.Phe523Leu)	NLRP3 (F525L +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97937	NM_001243133.2(NLRP3):c.1569C>A (p.Phe523Leu)	NLRP3 (F525L +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97933	NM_001243133.2(NLRP3):c.1438A>T (p.Ile480Phe)	NLRP3 (I482F +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97932	NM_001243133.2(NLRP3):c.1431C>A (p.Asn477Lys)	NLRP3 (N479K +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97928	NM_001243133.2(NLRP3):c.1329C>G (p.Phe443Leu)	NLRP3 (F445L +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97927	NM_001243133.2(NLRP3):c.1321T>C (p.Tyr441His)	NLRP3 (Y443H +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97926	NM_001243133.2(NLRP3):c.1315G>C (p.Ala439Pro)	NLRP3 (A441P +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97923	NM_001243133.2(NLRP3):c.1307C>A (p.Thr436Asn)	NLRP3 (T438N +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97922	NM_001243133.2(NLRP3):c.1306ACC[2] (p.Thr438del)	NLRP3 (T440del +1 more)	Microsatellite (inframe_deletion)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97920	NM_001243133.2(NLRP3):c.1306A>C (p.Thr436Pro)	NLRP3 (T438P +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97919	NM_001243133.2(NLRP3):c.1241G>T (p.Trp414Leu)	NLRP3 (W416L +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97917	NM_001243133.2(NLRP3):c.1218G>C (p.Met406Ile)	NLRP3 (M408I +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97915	NM_001243133.2(NLRP3):c.1121C>A (p.Ala374Asp)	NLRP3 (A376D +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97914	NM_001243133.2(NLRP3):c.1073A>G (p.His358Arg)	NLRP3 (H360R +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97913	NM_001243133.2(NLRP3):c.1062G>T (p.Glu354Asp)	NLRP3 (E356D +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97911	NM_001243133.2(NLRP3):c.1051G>C (p.Val351Leu)	NLRP3 (V353L +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided
Select item 97812	NM_001243133.2(NLRP3):c.994A>G (p.Ser332Gly)	NLRP3 (S334G +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1	Gnot provided

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Links from Gene

Items: 63