"PreventionGenetics, part of Exact Sciences"[submitter] AND "NLRP2"[ge - ClinVar

Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 1711488	NM_017852.5(NLRP2):c.147G>A (p.Lys49=)	NLRP2	Single nucleotide variant (synonymous variant +2 more)	NLRP2-related disorder +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 2650498	NM_017852.5(NLRP2):c.280+7G>A	NLRP2	Single nucleotide variant (intron variant)	NLRP2-related disorder +1 more	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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)	not provided +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)	not provided +1 more	GBenign
Select item 1675760	NM_017852.5(NLRP2):c.1055T>G (p.Ile352Ser)	NLRP2 (I329S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +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)	not provided +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 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 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
Select item 3039338	NM_017852.5(NLRP2):c.1254G>C (p.Pro418=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 3051283	NM_017852.5(NLRP2):c.1263C>G (p.Thr421=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 3032916	NM_017852.5(NLRP2):c.1302C>T (p.Cys434=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 3055148	NM_017852.5(NLRP2):c.1374G>T (p.Leu458=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 3030405	NM_017852.5(NLRP2):c.1380G>A (p.Ala460=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 103050	NM_017852.5(NLRP2):c.1386G>A (p.Thr462=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 3040883	NM_017852.5(NLRP2):c.1389C>T (p.Ser463=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 3036513	NM_017852.5(NLRP2):c.1392G>C (p.Val464=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 3037105	NM_017852.5(NLRP2):c.1395T>C (p.Leu465=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 3051047	NM_017852.5(NLRP2):c.1400G>A (p.Arg467Gln)	NLRP2 (R444Q +3 more)	Single nucleotide variant (missense variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 3048160	NM_017852.5(NLRP2):c.1407T>C (p.Asp469=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 3032544	NM_017852.5(NLRP2):c.1413A>G (p.Glu471=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 3054458	NM_017852.5(NLRP2):c.1455C>T (p.Asp485=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 782660	NM_017852.5(NLRP2):c.1470C>A (p.Arg490=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1013402	NM_017852.5(NLRP2):c.1474G>A (p.Asp492Asn)	NLRP2 (D469N +3 more)	Single nucleotide variant (missense variant +1 more)	NLRP2-related disorder +1 more	GBenign/Likely benign
Select item 3048448	NM_017852.5(NLRP2):c.1497C>T (p.Tyr499=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 3058846	NM_017852.5(NLRP2):c.1503C>T (p.Phe501=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 3054741	NM_017852.5(NLRP2):c.1521G>A (p.Gln507=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 1287968	NM_017852.5(NLRP2):c.1566A>G (p.Glu522=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 771045	NM_017852.5(NLRP2):c.1572T>C (p.Asp524=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder +1 more	GBenign
Select item 1183312	NM_017852.5(NLRP2):c.1585A>G (p.Thr529Ala)	NLRP2 (T506A +3 more)	Single nucleotide variant (missense variant +1 more)	NLRP2-related disorder +1 more	GBenign
Select item 1335370	NM_017852.5(NLRP2):c.1586C>T (p.Thr529Ile)	NLRP2 (T506I +3 more)	Single nucleotide variant (missense variant +1 more)	NLRP2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3033171	NM_017852.5(NLRP2):c.1596T>C (p.Ile532=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GBenign
Select item 3037088	NM_017852.5(NLRP2):c.1664A>G (p.Tyr555Cys)	NLRP2 (Y532C +3 more)	Single nucleotide variant (missense variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 1259906	NM_017852.5(NLRP2):c.1674T>C (p.Phe558=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 3036530	NM_017852.5(NLRP2):c.1680C>T (p.Leu560=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 3037764	NM_017852.5(NLRP2):c.1681G>A (p.Ala561Thr)	NLRP2 (A538T +3 more)	Single nucleotide variant (missense variant +1 more)	NLRP2-related disorder	GBenign
Select item 3033385	NM_017852.5(NLRP2):c.1695A>G (p.Arg565=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 3034258	NM_017852.5(NLRP2):c.1727G>A (p.Arg576Gln)	NLRP2 (R553Q +3 more)	Single nucleotide variant (missense variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 3038896	NM_017852.5(NLRP2):c.1736C>T (p.Pro579Leu)	NLRP2 (P556L +3 more)	Single nucleotide variant (missense variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 2650502	NM_017852.5(NLRP2):c.1786C>T (p.His596Tyr)	NLRP2 (H573Y +3 more)	Single nucleotide variant (missense variant +1 more)	NLRP2-related disorder +1 more	GBenign/Likely benign
Select item 3058878	NM_017852.5(NLRP2):c.1815C>G (p.Leu605=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GBenign
Select item 3030997	NM_017852.5(NLRP2):c.1888C>T (p.Leu630=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 3044673	NM_017852.5(NLRP2):c.1908C>T (p.Asp636=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 3047266	NM_017852.5(NLRP2):c.1962A>G (p.Ser654=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 718578	NM_017852.5(NLRP2):c.1965G>A (p.Leu655=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3032125	NM_017852.5(NLRP2):c.2028G>A (p.Glu676=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 3055315	NM_017852.5(NLRP2):c.2030+10G>A	NLRP2	Single nucleotide variant (intron variant)	NLRP2-related disorder	GBenign
Select item 3060536	NM_017852.5(NLRP2):c.2110C>T (p.Leu704=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GBenign
Select item 3037714	NM_017852.5(NLRP2):c.2316C>T (p.Pro772=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 773607	NM_017852.5(NLRP2):c.2401G>A (p.Ala801Thr)	NLRP2 (A778T +3 more)	Single nucleotide variant (missense variant +1 more)	NLRP2-related disorder +1 more	GBenign
Select item 3055995	NM_017852.5(NLRP2):c.2424A>G (p.Glu808=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GBenign
Select item 1268222	NM_017852.5(NLRP2):c.2538-4G>C	NLRP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3051156	NM_017852.5(NLRP2):c.2754A>G (p.Thr918=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 3051303	NM_017852.5(NLRP2):c.2796G>C (p.Leu932=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign
Select item 790765	NM_017852.5(NLRP2):c.2802G>A (p.Leu934=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 775427	NM_017852.5(NLRP2):c.3095A>T (p.Glu1032Val)	NLRP2 (E1009V +3 more)	Single nucleotide variant (missense variant +1 more)	NLRP2-related disorder +1 more	GBenign
Select item 784401	NM_017852.5(NLRP2):c.3100A>G (p.Ile1034Val)	NLRP2 (I1031V +3 more)	Single nucleotide variant (missense variant +1 more)	NLRP2-related disorder +1 more	GBenign
Select item 2060327	NM_017852.5(NLRP2):c.3124A>G (p.Ile1042Val)	NLRP2 (I1019V +3 more)	Single nucleotide variant (missense variant +1 more)	NLRP2-related disorder +1 more	GLikely benign
Select item 1262342	NM_017852.5(NLRP2):c.3155C>A (p.Ala1052Glu)	NLRP2 (A1029E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign

ClinVar

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Items: 92