ClinVar for Gene (Select 55655) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3406170	NM_017852.5(NLRP2):c.845A>G (p.Lys282Arg)	NLRP2 (K282R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3406169	NM_017852.5(NLRP2):c.1532C>T (p.Thr511Ile)	NLRP2 (T488I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3406168	NM_017852.5(NLRP2):c.2396A>G (p.Gln799Arg)	NLRP2 (Q799R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3406167	NM_017852.5(NLRP2):c.2101C>A (p.Leu701Met)	NLRP2 (L701M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3406166	NM_017852.5(NLRP2):c.1621G>C (p.Gly541Arg)	NLRP2 (G519R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3406165	NM_017852.5(NLRP2):c.893G>T (p.Gly298Val)	NLRP2 (G295V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3406164	NM_017852.5(NLRP2):c.2317G>A (p.Ala773Thr)	NLRP2 (A750T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3406163	NM_017852.5(NLRP2):c.1954A>G (p.Lys652Glu)	NLRP2 (K652E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3406162	NM_017852.5(NLRP2):c.703C>T (p.Leu235Phe)	NLRP2 (L213F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3406161	NM_017852.5(NLRP2):c.839C>T (p.Ala280Val)	NLRP2 (A258V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3406160	NM_017852.5(NLRP2):c.754C>T (p.Arg252Cys)	NLRP2 (R230C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3406159	NM_017852.5(NLRP2):c.1625T>C (p.Val542Ala)	NLRP2 (V519A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3406158	NM_017852.5(NLRP2):c.1164C>A (p.Asn388Lys)	NLRP2 (N365K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3406157	NM_017852.5(NLRP2):c.323T>C (p.Leu108Ser)	NLRP2 (L108S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3406156	NM_017852.5(NLRP2):c.842G>A (p.Arg281Gln)	NLRP2 (R259Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3406155	NM_017852.5(NLRP2):c.1571A>G (p.Asp524Gly)	NLRP2 (D501G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3406154	NM_017852.5(NLRP2):c.1292G>A (p.Arg431His)	NLRP2 (R409H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3406153	NM_017852.5(NLRP2):c.949C>A (p.Leu317Ile)	NLRP2 (L317I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3406152	NM_017852.5(NLRP2):c.1819G>A (p.Gly607Ser)	NLRP2 (G607S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3406151	NM_017852.5(NLRP2):c.1678C>T (p.Leu560Phe)	NLRP2 (L557F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3393875	NM_017852.5(NLRP2):c.2639T>G (p.Ile880Ser)	NLRP2 (I858S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3393829	NM_017852.5(NLRP2):c.1943_1944del (p.Arg648fs)	NLRP2 (R625fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3390428	NM_017852.5(NLRP2):c.1238A>C (p.Glu413Ala)	NLRP2 (E390A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3384320	NM_017852.5(NLRP2):c.1206G>A (p.Trp402Ter)	NLRP2 (W379* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3383661	NM_017852.5(NLRP2):c.726del (p.Phe243fs)	NLRP2 (F220fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3377876	NM_017852.5(NLRP2):c.2542G>T (p.Glu848Ter)	NLRP2 (E825* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3373513	NM_017852.5(NLRP2):c.917G>A (p.Gly306Glu)	NLRP2 (G283E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373437	NM_017852.5(NLRP2):c.567C>A (p.Tyr189Ter)	NLRP2 (Y166* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3368484	NM_017852.5(NLRP2):c.1124A>C (p.Glu375Ala)	NLRP2 (E352A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365173	NM_017852.5(NLRP2):c.467_468del (p.Lys156fs)	NLRP2 (K133fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3364077	NM_017852.5(NLRP2):c.976A>T (p.Met326Leu)	NLRP2 (M303L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3362169	NM_017852.5(NLRP2):c.1969G>A (p.Val657Ile)	NLRP2 (V634I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361252	NM_017852.5(NLRP2):c.702C>A (p.Asn234Lys)	NLRP2 (N211K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360213	NM_017852.5(NLRP2):c.1129C>T (p.Gln377Ter)	NLRP2 (Q354* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3360132	NM_017852.5(NLRP2):c.2202-2A>G	NLRP2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3360050	NM_017852.5(NLRP2):c.2492T>C (p.Leu831Pro)	NLRP2 (L808P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3300061	NM_017852.5(NLRP2):c.3170C>T (p.Ser1057Phe)	NLRP2 (S1035F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300060	NM_017852.5(NLRP2):c.1988C>T (p.Pro663Leu)	NLRP2 (P640L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3300059	NM_017852.5(NLRP2):c.1326G>C (p.Gln442His)	NLRP2 (Q419H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300058	NM_017852.5(NLRP2):c.1926C>G (p.Phe642Leu)	NLRP2 (F619L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300057	NM_017852.5(NLRP2):c.1012C>T (p.Pro338Ser)	NLRP2 (P315S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3300056	NM_017852.5(NLRP2):c.1321G>A (p.Ala441Thr)	NLRP2 (A418T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300055	NM_017852.5(NLRP2):c.2050A>G (p.Met684Val)	NLRP2 (M662V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300053	NM_017852.5(NLRP2):c.2099A>T (p.Asp700Val)	NLRP2 (D677V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300052	NM_017852.5(NLRP2):c.1748A>G (p.Gln583Arg)	NLRP2 (Q560R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300051	NM_017852.5(NLRP2):c.1442G>A (p.Arg481His)	NLRP2 (R459H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3253003	NM_017852.5(NLRP2):c.1317G>T (p.Gln439His)	NLRP2 (Q416H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252893	NM_017852.5(NLRP2):c.1045G>T (p.Glu349Ter)	NLRP2 (E326* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3252132	NM_017852.5(NLRP2):c.1769del (p.Ile590fs)	NLRP2 (I567fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
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 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 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 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 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 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 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 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 3200617	NM_017852.5(NLRP2):c.3101T>G (p.Ile1034Arg)	NLRP2 (I1031R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200615	NM_017852.5(NLRP2):c.2903C>T (p.Pro968Leu)	NLRP2 (P968L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200614	NM_017852.5(NLRP2):c.2761C>G (p.Leu921Val)	NLRP2 (L898V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200613	NM_017852.5(NLRP2):c.2706G>T (p.Leu902Phe)	NLRP2 (L879F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200612	NM_017852.5(NLRP2):c.2420T>C (p.Leu807Pro)	NLRP2 (L807P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200611	NM_017852.5(NLRP2):c.2383G>A (p.Ala795Thr)	NLRP2 (A795T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200610	NM_017852.5(NLRP2):c.1369G>A (p.Gly457Ser)	NLRP2 (G454S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200609	NM_017852.5(NLRP2):c.1266C>G (p.Cys422Trp)	NLRP2 (C422W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3068113	NM_017852.5(NLRP2):c.1759C>T (p.Arg587Ter)	NLRP2 (R564* +3 more)	Single nucleotide variant (nonsense +1 more)	Oocyte/zygote/embryo maturation arrest 18	GLikely pathogenic
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 3060536	NM_017852.5(NLRP2):c.2110C>T (p.Leu704=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GBenign
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 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 3055995	NM_017852.5(NLRP2):c.2424A>G (p.Glu808=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	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 3055315	NM_017852.5(NLRP2):c.2030+10G>A	NLRP2	Single nucleotide variant (intron variant)	NLRP2-related disorder	GBenign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3039338	NM_017852.5(NLRP2):c.1254G>C (p.Pro418=)	NLRP2	Single nucleotide variant (synonymous variant +1 more)	NLRP2-related disorder	GLikely benign

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