NLRP6[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 148

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	ANO9, AP2A2 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	ANO9, AP2A2 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	LOC130005164, LOC130005165 +332 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 157193	NC_000011.10:g.264391_396308dup	LOC130005042, LOC130005061 +27 more	Duplication	Small for gestational age	Gnot provided
Select item 150179	GRCh38/hg38 11p15.5(chr11:268813-292641)x1	LOC130005042, LOC130005043 +4 more	Copy number loss	See cases	GLikely benign
Select item 102950	NM_138329.2(NLRP6):c.-166G>A	NLRP6	Single nucleotide variant (genic upstream transcript variant)	not provided	Gnot provided
Select item 2513731	NM_001276700.2(NLRP6):c.20C>T (p.Pro7Leu)	NLRP6 (P7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 103245	NM_001276700.2(NLRP6):c.29+222A>G	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103246	NM_001276700.2(NLRP6):c.29+250G>A	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103249	NM_001276700.2(NLRP6):c.30-335G>A	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103248	NM_001276700.2(NLRP6):c.30-271C>G	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103250	NM_001276700.2(NLRP6):c.30-85G>A	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103247	NM_001276700.2(NLRP6):c.30-20C>G	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2365675	NM_001276700.2(NLRP6):c.38C>G (p.Pro13Arg)	NLRP6 (P13R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300089	NM_001276700.2(NLRP6):c.55C>G (p.Arg19Gly)	NLRP6 (R19G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200681	NM_001276700.2(NLRP6):c.137C>T (p.Pro46Leu)	NLRP6 (P46L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3300094	NM_001276700.2(NLRP6):c.169G>A (p.Glu57Lys)	NLRP6 (E57K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 103231	NM_001276700.2(NLRP6):c.184G>A (p.Val62Met)	NLRP6 (V62M)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 103243	NM_001276700.2(NLRP6):c.261G>A (p.Arg87=)	NLRP6	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 2275175	NM_001276700.2(NLRP6):c.295G>A (p.Glu99Lys)	NLRP6 (E99K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 103253	NM_001276700.2(NLRP6):c.311-42G>C	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103252	NM_001276700.2(NLRP6):c.311-26G>T	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103251	NM_001276700.2(NLRP6):c.311-15C>A	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2393056	NM_001276700.2(NLRP6):c.311G>T (p.Arg104Leu)	NLRP6 (R104L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 103254	NM_001276700.2(NLRP6):c.349+103G>A	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 3300090	NM_001276700.2(NLRP6):c.392C>T (p.Ala131Val)	NLRP6 (A131V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348355	NM_001276700.2(NLRP6):c.439T>C (p.Phe147Leu)	NLRP6 (F147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300101	NM_001276700.2(NLRP6):c.532G>C (p.Asp178His)	NLRP6 (D178H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381939	NM_001276700.2(NLRP6):c.541A>G (p.Thr181Ala)	NLRP6 (T181A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300088	NM_001276700.2(NLRP6):c.556T>C (p.Phe186Leu)	NLRP6 (F186L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 103255	NM_001276700.2(NLRP6):c.582G>A (p.Arg194=)	NLRP6	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 3200689	NM_001276700.2(NLRP6):c.610G>A (p.Ala204Thr)	LOC130005043, NLRP6 (A204T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 548517	NM_001276700.2(NLRP6):c.669G>C (p.Lys223Asn)	NLRP6, LOC130005043 (K223N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2347881	NM_001276700.2(NLRP6):c.680G>A (p.Gly227Asp)	NLRP6 (G227D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200690	NM_001276700.2(NLRP6):c.706C>A (p.Pro236Thr)	NLRP6 (P236T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319148	NM_001276700.2(NLRP6):c.773C>T (p.Pro258Leu)	NLRP6 (P258L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 103256	NM_001276700.2(NLRP6):c.786G>C (p.Ala262=)	NLRP6	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 103257	NM_001276700.2(NLRP6):c.795G>A (p.Pro265=)	NLRP6	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 2330698	NM_001276700.2(NLRP6):c.800T>C (p.Met267Thr)	NLRP6 (M267T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513109	NM_001276700.2(NLRP6):c.811C>T (p.Pro271Ser)	NLRP6 (P271S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 103258	NM_001276700.2(NLRP6):c.851T>C (p.Leu284Pro)	NLRP6 (L284P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2367349	NM_001276700.2(NLRP6):c.919G>C (p.Val307Leu)	NLRP6 (V307L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200691	NM_001276700.2(NLRP6):c.955A>G (p.Thr319Ala)	NLRP6 (T319A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 103259	NM_001276700.2(NLRP6):c.966G>C (p.Leu322=)	NLRP6	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 2225022	NM_001276700.2(NLRP6):c.979C>A (p.Arg327Ser)	NLRP6 (R327S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331533	NM_001276700.2(NLRP6):c.1022C>T (p.Pro341Leu)	NLRP6 (P341L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300097	NM_001276700.2(NLRP6):c.1048T>C (p.Ser350Pro)	NLRP6 (S350P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300091	NM_001276700.2(NLRP6):c.1081T>C (p.Tyr361His)	NLRP6 (Y361H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549962	NM_001276700.2(NLRP6):c.1216C>T (p.Arg406Trp)	NLRP6 (R406W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 103229	NM_001276700.2(NLRP6):c.1271C>A (p.Thr424Asn)	NLRP6 (T424N)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2313906	NM_001276700.2(NLRP6):c.1309C>G (p.Arg437Gly)	NLRP6 (R437G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300092	NM_001276700.2(NLRP6):c.1330A>G (p.Asn444Asp)	NLRP6 (N444D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593285	NM_001276700.2(NLRP6):c.1349G>T (p.Arg450Leu)	NLRP6 (R450L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380532	NM_001276700.2(NLRP6):c.1363G>A (p.Gly455Arg)	NLRP6 (G455R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473557	NM_001276700.2(NLRP6):c.1366C>T (p.Arg456Cys)	NLRP6 (R456C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200680	NM_001276700.2(NLRP6):c.1367G>A (p.Arg456His)	NLRP6 (R456H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285095	NM_001276700.2(NLRP6):c.1417T>G (p.Ser473Ala)	NLRP6 (S473A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231905	NM_001276700.2(NLRP6):c.1487A>G (p.Gln496Arg)	NLRP6 (Q496R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718504	NM_001276700.2(NLRP6):c.1549G>A (p.Gly517Arg)	NLRP6 (G517R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 785333	NM_001276700.2(NLRP6):c.1555C>A (p.Pro519Thr)	NLRP6 (P519T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3026468	NM_001276700.2(NLRP6):c.1599C>A (p.Asp533Glu)	NLRP6 (D533E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2233483	NM_001276700.2(NLRP6):c.1618T>G (p.Leu540Val)	NLRP6 (L540V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200683	NM_001276700.2(NLRP6):c.1631C>T (p.Thr544Met)	LOC130005044, NLRP6 (T544M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300096	NM_001276700.2(NLRP6):c.1660G>A (p.Glu554Lys)	LOC130005044, NLRP6 (E554K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 103230	NM_001276700.2(NLRP6):c.1665G>A (p.Arg555=)	LOC130005044, NLRP6	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 2308121	NM_001276700.2(NLRP6):c.1681C>A (p.Arg561Ser)	LOC130005044, NLRP6 (R561S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606006	NM_001276700.2(NLRP6):c.1702T>G (p.Ser568Ala)	LOC130005044, NLRP6 (S568A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482344	NM_001276700.2(NLRP6):c.1730G>A (p.Arg577Gln)	NLRP6 (R577Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593431	NM_001276700.2(NLRP6):c.1831G>A (p.Glu611Lys)	NLRP6 (E611K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 103232	NM_001276700.2(NLRP6):c.1878C>T (p.Tyr626=)	NLRP6	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 103233	NM_001276700.2(NLRP6):c.1940A>G (p.Gln647Arg)	NLRP6 (Q647R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 718545	NM_001276700.2(NLRP6):c.1958G>C (p.Arg653Pro)	NLRP6 (R653P)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2543752	NM_001276700.2(NLRP6):c.2000C>T (p.Pro667Leu)	NLRP6 (P667L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 103234	NM_001276700.2(NLRP6):c.2051AGA[4] (p.Lys688del)	NLRP6 (K688del)	Microsatellite (inframe_deletion)	not provided	Gnot provided
Select item 103235	NM_001276700.2(NLRP6):c.2078G>A (p.Arg693Gln)	NLRP6 (R693Q)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3300100	NM_001276700.2(NLRP6):c.2098G>A (p.Gly700Ser)	NLRP6 (G700S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 103236	NM_001276700.2(NLRP6):c.2105+139C>T	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103237	NM_001276700.2(NLRP6):c.2105+180A>C	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103238	NM_001276700.2(NLRP6):c.2105+362T>C	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2463885	NM_001276700.2(NLRP6):c.2147A>G (p.His716Arg)	NLRP6 (H716R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 103239	NM_001276700.2(NLRP6):c.2198+35C>T	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 3200684	NM_001276700.2(NLRP6):c.2212A>G (p.Lys738Glu)	NLRP6 (K738E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200685	NM_001276700.2(NLRP6):c.2224G>T (p.Ala742Ser)	NLRP6 (A742S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2542173	NM_001276700.2(NLRP6):c.2224G>A (p.Ala742Thr)	NLRP6 (A742T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720682	NM_001276700.2(NLRP6):c.2225C>T (p.Ala742Val)	NLRP6 (A742V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2349798	NM_001276700.2(NLRP6):c.2266G>A (p.Ala756Thr)	NLRP6 (A757T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200686	NM_001276700.2(NLRP6):c.2267C>G (p.Ala756Gly)	NLRP6 (A756G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226344	NM_001276700.2(NLRP6):c.2267C>T (p.Ala756Val)	NLRP6 (A756V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330625	NM_001276700.2(NLRP6):c.2273C>T (p.Thr758Met)	NLRP6 (T758M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302089	NM_001276700.2(NLRP6):c.2282G>A (p.Gly761Asp)	NLRP6 (G762D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264528	NM_001276700.2(NLRP6):c.2317C>T (p.Arg773Cys)	NLRP6 (R773C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521922	NM_001276700.2(NLRP6):c.2345C>T (p.Pro782Leu)	NLRP6 (P782L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770212	NM_001276700.2(NLRP6):c.2346G>A (p.Pro782=)	NLRP6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 103240	NM_001276700.2(NLRP6):c.2370-37G>A	NLRP6	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 3300098	NM_001276700.2(NLRP6):c.2381C>T (p.Pro794Leu)	NLRP6 (P794L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595151	NM_001276700.2(NLRP6):c.2383G>A (p.Asp795Asn)	NLRP6 (D795N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200687	NM_001276700.2(NLRP6):c.2393G>A (p.Arg798Gln)	NLRP6 (R799Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign

<< First< Prev

Page of 2