NLRP2[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	MIR10394, MIR125A +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	A1BG, A1BG-AS1 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LILRA4, LILRA5 +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	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 3200624	NM_017852.5(NLRP2):c.8C>T (p.Ser3Phe)	NLRP2 (S3F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778857	NM_017852.5(NLRP2):c.11C>T (p.Ser4Leu)	NLRP2 (S4L)	Single nucleotide variant (missense variant +1 more)	NLRP2-related disorder +1 more	GBenign
Select item 2360039	NM_017852.5(NLRP2):c.14C>T (p.Ala5Val)	NLRP2 (A5V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055369	NM_017852.5(NLRP2):c.15G>A (p.Ala5=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GBenign
Select item 3039591	NM_017852.5(NLRP2):c.72C>G (p.Ser24Arg)	NLRP2 (S24R)	Single nucleotide variant (missense variant +1 more)	NLRP2-related disorder	GBenign
Select item 3200625	NM_017852.5(NLRP2):c.92C>T (p.Thr31Met)	NLRP2 (T31M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 732831	NM_017852.5(NLRP2):c.103C>T (p.Leu35=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2508904	NM_017852.5(NLRP2):c.111C>G (p.His37Gln)	NLRP2 (H37Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218899	NM_017852.5(NLRP2):c.112G>A (p.Glu38Lys)	NLRP2 (E38K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2574904	NM_017852.5(NLRP2):c.140T>C (p.Val47Ala)	NLRP2 (V47A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1711488	NM_017852.5(NLRP2):c.147G>A (p.Lys49=)	NLRP2	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 3033642	NM_017852.5(NLRP2):c.213G>A (p.Ala71=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 103058	NM_017852.5(NLRP2):c.239A>C (p.His80Pro)	NLRP2 (H80P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 2541590	NM_017852.5(NLRP2):c.240C>G (p.His80Gln)	NLRP2 (H80Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650498	NM_017852.5(NLRP2):c.280+7G>A	NLRP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 103061	NM_017852.5(NLRP2):c.280+93C>A	NLRP2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103060	NM_017852.5(NLRP2):c.280+220C>T	NLRP2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103062	NM_017852.5(NLRP2):c.281-20C>T	NLRP2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103069	NM_017852.5(NLRP2):c.325+3A>C	NLRP2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103068	NM_017852.5(NLRP2):c.325+129G>A	NLRP2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103070	NM_017852.5(NLRP2):c.326-68A>G	NLRP2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 3200618	NM_017852.5(NLRP2):c.335G>A (p.Arg112Gln)	NLRP2 (R89Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 731285	NM_017852.5(NLRP2):c.357C>T (p.Asp119=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2381905	NM_017852.5(NLRP2):c.358G>A (p.Val120Met)	NLRP2 (V120M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200619	NM_017852.5(NLRP2):c.363C>A (p.Asp121Glu)	NLRP2 (D121E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2384760	NM_017852.5(NLRP2):c.376C>T (p.Arg126Cys)	NLRP2 (R126C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371818	NM_017852.5(NLRP2):c.377G>A (p.Arg126His)	NLRP2 (R103H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3200620	NM_017852.5(NLRP2):c.395A>T (p.Gln132Leu)	NLRP2 (Q109L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2500652	NM_017852.5(NLRP2):c.398-6T>G	NLRP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 734947	NM_017852.5(NLRP2):c.399G>C (p.Ala133=)	NLRP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2542792	NM_017852.5(NLRP2):c.416G>A (p.Gly139Glu)	NLRP2 (G139E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3200621	NM_017852.5(NLRP2):c.476G>A (p.Arg159Lys)	NLRP2 (R159K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2370305	NM_017852.5(NLRP2):c.482G>A (p.Arg161Lys)	NLRP2 (R139K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456260	NM_017852.5(NLRP2):c.504C>G (p.Phe168Leu)	NLRP2 (F145L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200622	NM_017852.5(NLRP2):c.530G>T (p.Gly177Val)	NLRP2 (G155V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3039605	NM_017852.5(NLRP2):c.549G>A (p.Gln183=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 2581904	NM_017852.5(NLRP2):c.578T>G (p.Ile193Ser)	NLRP2 (I170S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1227031	NM_017852.5(NLRP2):c.585C>T (p.Phe195=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3054043	NM_017852.5(NLRP2):c.606C>T (p.Pro202=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 1342398	NM_017852.5(NLRP2):c.611_612del (p.Pro204fs)	NLRP2 (P181fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3037054	NM_017852.5(NLRP2):c.612C>T (p.Pro204=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 3033658	NM_017852.5(NLRP2):c.621C>T (p.Tyr207=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 3032325	NM_017852.5(NLRP2):c.627G>C (p.Val209=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 2650499	NM_017852.5(NLRP2):c.627G>T (p.Val209=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1321328	NM_017852.5(NLRP2):c.632dup (p.Tyr212fs)	NLRP2 (Y189fs +3 more)	Duplication (frameshift variant +1 more)	Multisystem inflammatory syndrome in children	Grisk factor
Select item 1246079	NM_017852.5(NLRP2):c.662C>T (p.Thr221Met)	NLRP2 (T198M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2601338	NM_017852.5(NLRP2):c.685G>T (p.Asp229Tyr)	NLRP2 (D226Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385969	NM_017852.5(NLRP2):c.691G>T (p.Ala231Ser)	NLRP2 (A231S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2573683	NM_017852.5(NLRP2):c.729C>G (p.Phe243Leu)	NLRP2 (F220L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1335366	NM_017852.5(NLRP2):c.729C>T (p.Phe243=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3200623	NM_017852.5(NLRP2):c.764C>G (p.Pro255Arg)	NLRP2 (P252R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3038888	NM_017852.5(NLRP2):c.765G>A (p.Pro255=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 2499457	NM_017852.5(NLRP2):c.773T>C (p.Phe258Ser)	NLRP2 (F235S +2 more)	Single nucleotide variant (missense variant +1 more)	Oocyte/zygote/embryo maturation arrest 18	GPathogenic
Select item 3037334	NM_017852.5(NLRP2):c.781C>T (p.Leu261=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GBenign
Select item 3030975	NM_017852.5(NLRP2):c.792G>A (p.Arg264=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 3046040	NM_017852.5(NLRP2):c.811G>A (p.Asp271Asn)	NLRP2 (D248N +3 more)	Single nucleotide variant (missense variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 2331025	NM_017852.5(NLRP2):c.833C>T (p.Ala278Val)	NLRP2 (A256V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3032360	NM_017852.5(NLRP2):c.855C>T (p.Phe285=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 2382431	NM_017852.5(NLRP2):c.896C>T (p.Ala299Val)	NLRP2 (A277V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3052193	NM_017852.5(NLRP2):c.903C>A (p.Ile301=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 3042496	NM_017852.5(NLRP2):c.903C>T (p.Ile301=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 3047789	NM_017852.5(NLRP2):c.904G>C (p.Glu302Gln)	NLRP2 (E279Q +3 more)	Single nucleotide variant (missense variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 2595807	NM_017852.5(NLRP2):c.937C>A (p.Pro313Thr)	NLRP2 (P313T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3046195	NM_017852.5(NLRP2):c.939G>A (p.Pro313=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 2515793	NM_017852.5(NLRP2):c.946G>A (p.Val316Ile)	NLRP2 (V294I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3049148	NM_017852.5(NLRP2):c.952C>T (p.Leu318=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 3052249	NM_017852.5(NLRP2):c.990C>T (p.Ala330=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 3049242	NM_017852.5(NLRP2):c.990C>A (p.Ala330=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 3049023	NM_017852.5(NLRP2):c.994C>T (p.Leu332=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 2293057	NM_017852.5(NLRP2):c.1006A>G (p.Thr336Ala)	NLRP2 (T313A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2574744	NM_017852.5(NLRP2):c.1010G>A (p.Arg337Gln)	NLRP2 (R314Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 103047	NM_017852.5(NLRP2):c.1020C>A (p.Ala340=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 1694944	NM_017852.5(NLRP2):c.1045G>C (p.Glu349Gln)	NLRP2 (E326Q +3 more)	Single nucleotide variant (missense variant +1 more)	NLRP2-related disorder +1 more	GBenign
Select item 1694945	NM_017852.5(NLRP2):c.1048G>C (p.Glu350Gln)	NLRP2 (E327Q +3 more)	Single nucleotide variant (missense variant +1 more)	NLRP2-related disorder +1 more	GBenign
Select item 103048	NM_017852.5(NLRP2):c.1053G>A (p.Pro351=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
Select item 1675760	NM_017852.5(NLRP2):c.1055T>G (p.Ile352Ser)	NLRP2 (I329S +3 more)	Single nucleotide variant (missense variant +1 more)	NLRP2-related disorder +1 more	GLikely benign
Select item 774963	NM_017852.5(NLRP2):c.1060A>G (p.Ile354Val)	NLRP2 (I331V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3055224	NM_017852.5(NLRP2):c.1068G>A (p.Val356=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 777723	NM_017852.5(NLRP2):c.1075T>C (p.Phe359Leu)	NLRP2 (F336L +3 more)	Single nucleotide variant (missense variant +1 more)	NLRP2-related disorder +1 more	GBenign/Likely benign
Select item 3029334	NM_017852.5(NLRP2):c.1089C>T (p.Asp363=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 3061011	NM_017852.5(NLRP2):c.1091G>A (p.Arg364Lys)	NLRP2 (R341K +3 more)	Single nucleotide variant (missense variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 2501858	NM_017852.5(NLRP2):c.1100A>G (p.Tyr367Cys)	NLRP2 (Y344C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2315417	NM_017852.5(NLRP2):c.1112A>C (p.His371Pro)	NLRP2 (H368P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1335367	NM_017852.5(NLRP2):c.1115T>C (p.Phe372Ser)	NLRP2 (F349S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3060593	NM_017852.5(NLRP2):c.1122C>T (p.Asp374=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GBenign
Select item 3035178	NM_017852.5(NLRP2):c.1138C>T (p.Arg380Cys)	NLRP2 (R357C +3 more)	Single nucleotide variant (missense variant +1 more)	NLRP2-related disorder	GBenign
Select item 2292383	NM_017852.5(NLRP2):c.1166C>T (p.Ala389Val)	NLRP2 (A366V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650500	NM_017852.5(NLRP2):c.1194C>T (p.Pro398=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 103049	NM_017852.5(NLRP2):c.1209C>T (p.Ile403=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 777055	NM_017852.5(NLRP2):c.1217C>G (p.Thr406Arg)	NLRP2 (T383R +3 more)	Single nucleotide variant (missense variant +1 more)	NLRP2-related disorder +1 more	GBenign/Likely benign
Select item 932560	NM_017852.5(NLRP2):c.1218G>A (p.Thr406=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder +1 more	GLikely benign

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