ClinVar for Gene (Select 171389) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3300100	NM_001276700.2(NLRP6):c.2098G>A (p.Gly700Ser)	NLRP6 (G700S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300099	NM_001276700.2(NLRP6):c.2497G>A (p.Ala833Thr)	NLRP6 (A834T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3300097	NM_001276700.2(NLRP6):c.1048T>C (p.Ser350Pro)	NLRP6 (S350P)	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 3300094	NM_001276700.2(NLRP6):c.169G>A (p.Glu57Lys)	NLRP6 (E57K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300093	NM_001276700.2(NLRP6):c.2474C>T (p.Ala825Val)	NLRP6 (A825V +1 more)	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 3300091	NM_001276700.2(NLRP6):c.1081T>C (p.Tyr361His)	NLRP6 (Y361H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3300089	NM_001276700.2(NLRP6):c.55C>G (p.Arg19Gly)	NLRP6 (R19G)	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 3244777	NC_000011.9:g.(?_216698)_(679836_?)del	ANO9, B4GALNT4 +25 more	Deletion	not provided	GUncertain significance
Select item 3244518	NC_000011.9:g.(?_216698)_(2906719_?)dup	ANO9, AP2A2 +77 more	Duplication	Beckwith-Wiedemann syndrome	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 3200690	NM_001276700.2(NLRP6):c.706C>A (p.Pro236Thr)	NLRP6 (P236T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3200688	NM_001276700.2(NLRP6):c.2663T>C (p.Ile888Thr)	NLRP6 (I888T +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
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 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 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 3200683	NM_001276700.2(NLRP6):c.1631C>T (p.Thr544Met)	LOC130005044, NLRP6 (T544M)	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 3200680	NM_001276700.2(NLRP6):c.1367G>A (p.Arg456His)	NLRP6 (R456H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3026839	NM_001276700.2(NLRP6):c.2516G>A (p.Gly839Glu)	NLRP6 (G839E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2684632	GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	CARS1, CD151 +89 more	Copy number gain	not provided	GPathogenic
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 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 2593431	NM_001276700.2(NLRP6):c.1831G>A (p.Glu611Lys)	NLRP6 (E611K)	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 2588553	NM_001276700.2(NLRP6):c.2434G>A (p.Ala812Thr)	NLRP6 (A812T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574690	GRCh37/hg19 11p15.5(chr11:268586-748873)	CDHR5, MIR210HG +26 more	Copy number loss	Beckwith-Wiedemann syndrome due to 11p15 microdeletion	GPathogenic
Select item 2559811	NM_001276700.2(NLRP6):c.2534T>C (p.Leu845Pro)	NLRP6 (L845P +1 more)	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 2543752	NM_001276700.2(NLRP6):c.2000C>T (p.Pro667Leu)	NLRP6 (P667L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2524591	NM_001276700.2(NLRP6):c.2632G>C (p.Asp878His)	NLRP6 (D879H +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 2513731	NM_001276700.2(NLRP6):c.20C>T (p.Pro7Leu)	NLRP6 (P7L)	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 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
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 2473557	NM_001276700.2(NLRP6):c.1366C>T (p.Arg456Cys)	NLRP6 (R456C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2462148	NM_001276700.2(NLRP6):c.2473G>A (p.Ala825Thr)	NLRP6 (A825T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2381939	NM_001276700.2(NLRP6):c.541A>G (p.Thr181Ala)	NLRP6 (T181A)	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 2377467	NM_001276700.2(NLRP6):c.2431C>T (p.Pro811Ser)	NLRP6 (P811S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2365675	NM_001276700.2(NLRP6):c.38C>G (p.Pro13Arg)	NLRP6 (P13R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363260	NM_001276700.2(NLRP6):c.2430C>A (p.Ser810Arg)	NLRP6 (S810R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361578	NM_001276700.2(NLRP6):c.2501T>A (p.Val834Asp)	NLRP6 (V834D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357122	NM_001276700.2(NLRP6):c.2521G>A (p.Gly841Ser)	NLRP6 (G841S +1 more)	Single nucleotide variant (missense variant)	not specified	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 2348355	NM_001276700.2(NLRP6):c.439T>C (p.Phe147Leu)	NLRP6 (F147L)	Single nucleotide variant (missense variant)	not specified	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 2331533	NM_001276700.2(NLRP6):c.1022C>T (p.Pro341Leu)	NLRP6 (P341L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2329555	NM_001276700.2(NLRP6):c.2578C>A (p.Leu860Ile)	NLRP6 (L860I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325951	NM_001276700.2(NLRP6):c.2398C>T (p.Leu800Phe)	NLRP6 (L800F +1 more)	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 2313906	NM_001276700.2(NLRP6):c.1309C>G (p.Arg437Gly)	NLRP6 (R437G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2306277	NM_001276700.2(NLRP6):c.2575G>A (p.Glu859Lys)	NLRP6 (E859K +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 2285095	NM_001276700.2(NLRP6):c.1417T>G (p.Ser473Ala)	NLRP6 (S473A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2233483	NM_001276700.2(NLRP6):c.1618T>G (p.Leu540Val)	NLRP6 (L540V)	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 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 2225022	NM_001276700.2(NLRP6):c.979C>A (p.Arg327Ser)	NLRP6 (R327S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204505	NM_001276700.2(NLRP6):c.2432C>T (p.Pro811Leu)	NLRP6 (P811L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	CAVIN3, CCKBR +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1421885	NC_000011.9:g.(?_216698)_(720766_?)dup	ANO9, B4GALNT4 +27 more	Duplication	Immunodeficiency 39	GUncertain significance
Select item 1410009	NC_000011.9:g.(?_216698)_(299504_?)dup	PSMD13, IFITM5 +3 more	Duplication	not provided	GUncertain significance
Select item 1339886	GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	IFITM5, SIGIRR +137 more	Copy number gain	not provided	Gnot provided
Select item 983191	GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3	ANO9, AP2A2 +109 more	Copy number gain	See cases	GPathogenic
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 980416	GRCh37/hg19 11p15.5(chr11:230615-1150353)x3	ANO9, AP2A2 +43 more	Copy number gain	not provided	GUncertain significance
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 785333	NM_001276700.2(NLRP6):c.1555C>A (p.Pro519Thr)	NLRP6 (P519T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770212	NM_001276700.2(NLRP6):c.2346G>A (p.Pro782=)	NLRP6	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 718545	NM_001276700.2(NLRP6):c.1958G>C (p.Arg653Pro)	NLRP6 (R653P)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
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 688993	GRCh37/hg19 11p15.5(chr11:210898-461373)x3	ANO9, B4GALNT4 +12 more	Copy number gain	not provided	GUncertain significance
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 624552	GRCh37/hg19 11p15.5(chr11:210300-487062)x3	ANO9, B4GALNT4 +12 more	Copy number gain	not provided	GUncertain significance
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	AKIP1, ANO9 +222 more	Copy number gain	not provided	GPathogenic
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 443411	GRCh37/hg19 11p15.5(chr11:230615-378405)x1	B4GALNT4, IFITM1 +7 more	Copy number loss	See cases	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic

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