ClinVar for Gene (Select 171389) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	ANO9, AP2A2 +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)	Inborn genetic diseases	GUncertain significance
Select item 2595151	NM_001276700.2(NLRP6):c.2383G>A (p.Asp795Asn)	NLRP6 (D795N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593431	NM_001276700.2(NLRP6):c.1831G>A (p.Glu611Lys)	NLRP6 (E611K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593285	NM_001276700.2(NLRP6):c.1349G>T (p.Arg450Leu)	NLRP6 (R450L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588553	NM_001276700.2(NLRP6):c.2434G>A (p.Ala812Thr)	NLRP6 (A812T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2574690	GRCh37/hg19 11p15.5(chr11:268586-748873)	PHRF1, TALDO1 +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)	Inborn genetic diseases	GUncertain significance
Select item 2549962	NM_001276700.2(NLRP6):c.1216C>T (p.Arg406Trp)	NLRP6 (R406W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543752	NM_001276700.2(NLRP6):c.2000C>T (p.Pro667Leu)	NLRP6 (P667L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542173	NM_001276700.2(NLRP6):c.2224G>A (p.Ala742Thr)	NLRP6 (A742T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524591	NM_001276700.2(NLRP6):c.2632G>C (p.Asp878His)	NLRP6 (D879H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521922	NM_001276700.2(NLRP6):c.2345C>T (p.Pro782Leu)	NLRP6 (P782L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513731	NM_001276700.2(NLRP6):c.20C>T (p.Pro7Leu)	NLRP6 (P7L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513109	NM_001276700.2(NLRP6):c.811C>T (p.Pro271Ser)	NLRP6 (P271S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	C11orf42, MRGPRG +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)	Inborn genetic diseases	GUncertain significance
Select item 2473557	NM_001276700.2(NLRP6):c.1366C>T (p.Arg456Cys)	NLRP6 (R456C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463885	NM_001276700.2(NLRP6):c.2147A>G (p.His716Arg)	NLRP6 (H716R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2462148	NM_001276700.2(NLRP6):c.2473G>A (p.Ala825Thr)	NLRP6 (A825T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393056	NM_001276700.2(NLRP6):c.311G>T (p.Arg104Leu)	NLRP6 (R104L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381939	NM_001276700.2(NLRP6):c.541A>G (p.Thr181Ala)	NLRP6 (T181A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380532	NM_001276700.2(NLRP6):c.1363G>A (p.Gly455Arg)	NLRP6 (G455R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377467	NM_001276700.2(NLRP6):c.2431C>T (p.Pro811Ser)	NLRP6 (P811S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367349	NM_001276700.2(NLRP6):c.919G>C (p.Val307Leu)	NLRP6 (V307L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365675	NM_001276700.2(NLRP6):c.38C>G (p.Pro13Arg)	NLRP6 (P13R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363260	NM_001276700.2(NLRP6):c.2430C>A (p.Ser810Arg)	NLRP6 (S810R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361578	NM_001276700.2(NLRP6):c.2501T>A (p.Val834Asp)	NLRP6 (V834D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357122	NM_001276700.2(NLRP6):c.2521G>A (p.Gly841Ser)	NLRP6 (G841S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2349798	NM_001276700.2(NLRP6):c.2266G>A (p.Ala756Thr)	NLRP6 (A757T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348355	NM_001276700.2(NLRP6):c.439T>C (p.Phe147Leu)	NLRP6 (F147L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347881	NM_001276700.2(NLRP6):c.680G>A (p.Gly227Asp)	NLRP6 (G227D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331533	NM_001276700.2(NLRP6):c.1022C>T (p.Pro341Leu)	NLRP6 (P341L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330698	NM_001276700.2(NLRP6):c.800T>C (p.Met267Thr)	NLRP6 (M267T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330625	NM_001276700.2(NLRP6):c.2273C>T (p.Thr758Met)	NLRP6 (T758M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329555	NM_001276700.2(NLRP6):c.2578C>A (p.Leu860Ile)	NLRP6 (L860I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325951	NM_001276700.2(NLRP6):c.2398C>T (p.Leu800Phe)	NLRP6 (L800F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319148	NM_001276700.2(NLRP6):c.773C>T (p.Pro258Leu)	NLRP6 (P258L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313906	NM_001276700.2(NLRP6):c.1309C>G (p.Arg437Gly)	NLRP6 (R437G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308121	NM_001276700.2(NLRP6):c.1681C>A (p.Arg561Ser)	LOC130005044, NLRP6 (R561S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306277	NM_001276700.2(NLRP6):c.2575G>A (p.Glu859Lys)	NLRP6 (E859K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302089	NM_001276700.2(NLRP6):c.2282G>A (p.Gly761Asp)	NLRP6 (G762D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285095	NM_001276700.2(NLRP6):c.1417T>G (p.Ser473Ala)	NLRP6 (S473A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275175	NM_001276700.2(NLRP6):c.295G>A (p.Glu99Lys)	NLRP6 (E99K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264528	NM_001276700.2(NLRP6):c.2317C>T (p.Arg773Cys)	NLRP6 (R773C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233483	NM_001276700.2(NLRP6):c.1618T>G (p.Leu540Val)	NLRP6 (L540V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231905	NM_001276700.2(NLRP6):c.1487A>G (p.Gln496Arg)	NLRP6 (Q496R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226344	NM_001276700.2(NLRP6):c.2267C>T (p.Ala756Val)	NLRP6 (A756V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225022	NM_001276700.2(NLRP6):c.979C>A (p.Arg327Ser)	NLRP6 (R327S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204505	NM_001276700.2(NLRP6):c.2432C>T (p.Pro811Leu)	NLRP6 (P811L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	OR10A6, RRM1 +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ABCC8, ADM +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	ANO9, AP2A2 +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	IFITM3, OR52D1 +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	ABCC8, ADM +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)	ADM, AKIP1 +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	OR2AG2, OR2D2 +222 more	Copy number gain	not provided	GPathogenic
Select item 548517	NM_001276700.2(NLRP6):c.669G>C (p.Lys223Asn)	LOC130005043, NLRP6 (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	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ABCC8, ADM +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ABCC8, ABTB2 +364 more	Copy number gain	See cases	GPathogenic
Select item 395691	GRCh37/hg19 11p15.5(chr11:280778-297956)x1	NLRP6, PGGHG	Copy number loss	See cases	GLikely benign
Select item 394007	GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	ART1, ART5 +132 more	Copy number gain	See cases	GPathogenic
Select item 393875	GRCh37/hg19 11p15.5(chr11:193842-475940)x3	ANO9, B4GALNT4 +15 more	Copy number gain	See cases	GLikely benign
Select item 253707	GRCh37/hg19 11p15.5(chr11:193142-299384)x3	RIC8A, PGGHG +7 more	Copy number gain	See cases	GUncertain significance
Select item 157193	NC_000011.10:g.264391_396308dup	B4GALNT4, IFITM1 +27 more	Duplication	Small for gestational age	Gnot provided
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	LOC130005123, LOC130005124 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC106799843, LOC106865369 +388 more	Copy number gain	See cases	GPathogenic
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 150179	GRCh38/hg38 11p15.5(chr11:268813-292641)x1	LOC130005042, LOC130005043 +4 more	Copy number loss	See cases	GLikely benign
Select item 103259	NM_001276700.2(NLRP6):c.966G>C (p.Leu322=)	NLRP6	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
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 103257	NM_001276700.2(NLRP6):c.795G>A (p.Pro265=)	NLRP6	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 103256	NM_001276700.2(NLRP6):c.786G>C (p.Ala262=)	NLRP6	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 103255	NM_001276700.2(NLRP6):c.582G>A (p.Arg194=)	NLRP6	Single nucleotide variant (synonymous variant)	not provided	Gnot provided

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