NLRP11[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC113939975, LOC116286194 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	MIR498, MIR512-1 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065070, LOC130065071 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	A1BG, A1BG-AS1 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	LOC130065086, LOC130065087 +537 more	Copy number gain	See cases	GPathogenic
Select item 154108	GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3	BRSK1, C19orf85 +196 more	Copy number gain	See cases	GUncertain significance
Select item 149081	GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3	BRSK1, C19orf85 +194 more	Copy number gain	See cases	GLikely pathogenic
Select item 153813	GRCh38/hg38 19q13.42(chr19:55066790-55789870)x3	BRSK1, C19orf85 +124 more	Copy number gain	See cases	GUncertain significance
Select item 145961	GRCh38/hg38 19q13.42-13.43(chr19:55550939-57031576)x1	CCDC106, EDDM13 +106 more	Copy number loss	See cases	GLikely pathogenic
Select item 560140	Single allele	CCDC106, EPN1 +37 more	Deletion	not provided	GUncertain significance
Select item 103264	NM_001394894.2(NLRP11):c.*85A>G	NLRP11	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 789353	NM_001394894.2(NLRP11):c.3074C>T (p.Ser1025Leu)	NLRP11 (S1025L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2568966	NM_001394894.2(NLRP11):c.3066G>C (p.Met1022Ile)	NLRP11 (M965I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530183	NM_001394894.2(NLRP11):c.3004A>G (p.Ile1002Val)	NLRP11 (I1002V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 787573	NM_001394894.2(NLRP11):c.2929A>C (p.Ile977Leu)	NLRP11 (I878L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2264321	NM_001394894.2(NLRP11):c.2906T>C (p.Val969Ala)	NLRP11 (V969A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2339960	NM_001394894.2(NLRP11):c.2830C>T (p.Pro944Ser)	NLRP11 (P845S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377034	NM_001394894.2(NLRP11):c.2798G>C (p.Gly933Ala)	NLRP11 (G834A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2489541	NM_001394894.2(NLRP11):c.2783A>G (p.His928Arg)	NLRP11 (H829R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 103277	NM_001394894.2(NLRP11):c.2744C>T (p.Thr915Ile)	NLRP11 (T915I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 2391084	NM_001394894.2(NLRP11):c.2698A>C (p.Met900Leu)	NLRP11 (M801L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379269	NM_001394894.2(NLRP11):c.2606G>A (p.Ser869Asn)	NLRP11 (S770N +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 103275	NM_001394894.2(NLRP11):c.2454C>T (p.Tyr818=)	NLRP11	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
Select item 2209530	NM_001394894.2(NLRP11):c.2450A>T (p.Asn817Ile)	NLRP11 (N718I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2563811	NM_001394894.2(NLRP11):c.2391A>T (p.Arg797Ser)	NLRP11 (R698S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 710865	NM_001394894.2(NLRP11):c.2374T>G (p.Cys792Gly)	NLRP11 (C693G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 103274	NM_001394894.2(NLRP11):c.2343-32A>G	NLRP11	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2343402	NM_001394894.2(NLRP11):c.2333T>C (p.Ile778Thr)	NLRP11 (I778T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2324947	NM_001394894.2(NLRP11):c.2329C>A (p.Leu777Ile)	NLRP11 (L723I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213126	NM_001394894.2(NLRP11):c.2278A>G (p.Ser760Gly)	NLRP11 (S661G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467212	NM_001394894.2(NLRP11):c.2236G>A (p.Gly746Arg)	NLRP11 (G647R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395930	NM_001394894.2(NLRP11):c.2185G>C (p.Asp729His)	NLRP11 (D729H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282181	NM_001394894.2(NLRP11):c.2143G>A (p.Glu715Lys)	NLRP11 (E616K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2252947	NM_001394894.2(NLRP11):c.2129A>G (p.His710Arg)	NLRP11 (H656R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2217718	NM_001394894.2(NLRP11):c.2060G>A (p.Arg687His)	NLRP11 (R588H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205554	NM_001394894.2(NLRP11):c.1994G>A (p.Arg665His)	NLRP11 (R665H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2229413	NM_001394894.2(NLRP11):c.1953G>T (p.Arg651Ser)	NLRP11 (R552S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2487756	NM_001394894.2(NLRP11):c.1920C>G (p.Ile640Met)	NLRP11 (I640M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 103273	NM_001394894.2(NLRP11):c.1842-6A>G	NLRP11	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103271	NM_001394894.2(NLRP11):c.1842-128T>C	NLRP11	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103272	NM_001394894.2(NLRP11):c.1842-149C>T	NLRP11	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103269	NM_001394894.2(NLRP11):c.1841+256A>G	NLRP11	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103270	NM_001394894.2(NLRP11):c.1841+73A>G	NLRP11	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2601148	NM_001394894.2(NLRP11):c.1766G>A (p.Cys589Tyr)	NLRP11 (C589Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325711	NM_001394894.2(NLRP11):c.1742C>T (p.Ser581Leu)	NLRP11 (S482L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2612809	NM_001394894.2(NLRP11):c.1574C>T (p.Ser525Leu)	NLRP11 (S426L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550968	NM_001394894.2(NLRP11):c.1511G>A (p.Arg504Lys)	NLRP11 (R405K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298925	NM_001394894.2(NLRP11):c.1445G>A (p.Arg482Lys)	NLRP11 (R383K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2391447	NM_001394894.2(NLRP11):c.1382C>T (p.Ala461Val)	NLRP11 (A362V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2650542	NM_001394894.2(NLRP11):c.1347A>C (p.Ile449=)	NLRP11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2475524	NM_001394894.2(NLRP11):c.1253G>C (p.Arg418Thr)	NLRP11 (R418T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467935	NM_001394894.2(NLRP11):c.1172T>G (p.Leu391Arg)	NLRP11 (L292R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2606988	NM_001394894.2(NLRP11):c.1023A>T (p.Leu341Phe)	LOC112553116, NLRP11 (L341F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2295578	NM_001394894.2(NLRP11):c.841C>T (p.Arg281Cys)	LOC112553116, NLRP11 (R281C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270860	NM_001394894.2(NLRP11):c.841C>G (p.Arg281Gly)	NLRP11, LOC112553116 (R182G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548308	NM_001394894.2(NLRP11):c.625G>A (p.Asp209Asn)	NLRP11 (D110N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368814	NM_001394894.2(NLRP11):c.617A>T (p.Asp206Val)	NLRP11 (D107V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546345	NM_001394894.2(NLRP11):c.597G>T (p.Leu199Phe)	NLRP11 (L100F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2341642	NM_001394894.2(NLRP11):c.567C>A (p.His189Gln)	NLRP11 (H90Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243342	NM_001394894.2(NLRP11):c.535A>G (p.Met179Val)	NLRP11 (M179V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2214489	NM_001394894.2(NLRP11):c.520G>A (p.Glu174Lys)	NLRP11 (E174K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2615267	NM_001394894.2(NLRP11):c.370G>A (p.Val124Ile)	NLRP11 (V124I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 103276	NM_001394894.2(NLRP11):c.271+53C>G	NLRP11	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2512282	NM_001394894.2(NLRP11):c.252G>C (p.Lys84Asn)	NLRP11 (K84N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2377522	NM_001394894.2(NLRP11):c.230G>A (p.Arg77His)	NLRP11 (R77H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2613438	NM_001394894.2(NLRP11):c.229C>T (p.Arg77Cys)	NLRP11 (R77C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2569255	NM_001394894.2(NLRP11):c.223A>G (p.Met75Val)	NLRP11 (M75V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 103268	NM_001394894.2(NLRP11):c.150A>G (p.Glu50=)	NLRP11	Single nucleotide variant (synonymous variant +2 more)	not provided	Gnot provided
Select item 2347880	NM_001394894.2(NLRP11):c.134T>C (p.Ile45Thr)	NLRP11 (I45T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2254769	NM_001394894.2(NLRP11):c.103C>A (p.Leu35Ile)	NLRP11 (L35I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 103267	NM_001394894.2(NLRP11):c.-63+110T>C	NLRP11	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103265	NM_145007.5(NLRP11):c.-194-7C>T	NLRP11	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103266	NM_145007.5(NLRP11):c.-284-50A>G	NLRP11	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 102981	NM_145007.5(NLRP11):c.-405G>A	NLRP11	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	Gnot provided
Select item 102982	NM_134444.5(NLRP4):c.-458G>A	NLRP11, NLRP4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	Gnot provided
Select item 3062375	GRCh37/hg19 19q13.42-13.43(chr19:56080158-57672397)x1	CCDC106, DUXA +36 more	Copy number loss	not specified	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808053	GRCh37/hg19 19q13.43(chr19:56332374-56796637)x3	GALP, NLRP11 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1807878	GRCh37/hg19 19q13.42-13.43(chr19:56286281-56395259)x1	NLRP11, NLRP4	Copy number loss	not provided	GUncertain significance
Select item 1526672	GRCh37/hg19 19q13.43(chr19:56332200-57126728)	GALP, NLRP11 +15 more	Copy number gain	not specified	GUncertain significance
Select item 1341981	GRCh37/hg19 19q13.42-13.43(chr19:55434660-56463734)x1	BRSK1, CCDC106 +45 more	Copy number loss	not provided	GUncertain significance
Select item 1341017	GRCh37/hg19 19q13.42-13.43(chr19:55247893-56503347)x1	BRSK1, CCDC106 +54 more	Copy number loss	not provided	GLikely pathogenic
Select item 980773	GRCh37/hg19 19q13.42-13.43(chr19:56273044-56374621)x1	NLRP11, NLRP4 +2 more	Copy number loss	not provided	GUncertain significance
Select item 980772	GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3	TMC4, TMEM150B +87 more	Copy number gain	not provided	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 688789	GRCh37/hg19 19q13.42-13.43(chr19:56286280-56321640)x1	NLRP11	Copy number loss	not provided	GUncertain significance
Select item 688537	GRCh37/hg19 19q13.43(chr19:56309732-56393350)x1	NLRP11, NLRP4	Copy number loss	not provided	GUncertain significance
Select item 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564600	GRCh37/hg19 19q13.42-13.43(chr19:55779884-56896574)x1	KMT5C, NLRP8 +39 more	Copy number loss	not provided	GUncertain significance
Select item 443658	GRCh37/hg19 19q13.42-13.43(chr19:55844155-57408007)x3	CCDC106, COX6B2 +47 more	Copy number gain	See cases	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443202	GRCh37/hg19 19q13.42-13.43(chr19:55549385-57489784)x3	BRSK1, CCDC106 +61 more	Copy number gain	See cases	GUncertain significance
Select item 442366	GRCh37/hg19 19q13.42-13.43(chr19:56212463-57191708)x3	GALP, NLRP11 +21 more	Copy number gain	See cases	GUncertain significance
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 221405	GRCh37/hg19 19q13.42-13.43(chr19:56200298-57654005)x1	NLRP5, NLRP8 +26 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance

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