ClinVar for MedGen (Select 435869) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023107	NM_144687.4(NLRP12):c.3079T>C (p.Cys1027Arg)	NLRP12 (C1028R +2 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 3021565	NM_144687.4(NLRP12):c.1485C>T (p.Leu495=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 3021431	NM_144687.4(NLRP12):c.476G>A (p.Arg159Gln)	NLRP12 (R159Q)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 3017840	NM_144687.4(NLRP12):c.61G>A (p.Glu21Lys)	NLRP12 (E21K)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 3017741	NM_144687.4(NLRP12):c.466C>A (p.Arg156=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 3017740	NM_144687.4(NLRP12):c.543G>C (p.Arg181=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 3017658	NM_144687.4(NLRP12):c.1024A>T (p.Thr342Ser)	NLRP12 (T342S)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 3017347	NM_144687.4(NLRP12):c.2001C>T (p.Gly667=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 3016919	NM_144687.4(NLRP12):c.1255G>C (p.Glu419Gln)	NLRP12 (E419Q)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 3007668	NM_144687.4(NLRP12):c.180C>T (p.Leu60=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 3004041	NM_144687.4(NLRP12):c.1960C>G (p.Leu654Val)	NLRP12 (L654V)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2998997	NM_144687.4(NLRP12):c.2587C>T (p.Leu863=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2998712	NM_144687.4(NLRP12):c.1988T>C (p.Leu663Pro)	NLRP12 (L663P)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2998073	NM_144687.4(NLRP12):c.913G>C (p.Asp305His)	NLRP12 (D305H)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2996892	NM_144687.4(NLRP12):c.822G>A (p.Glu274=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2995923	NM_144687.4(NLRP12):c.1524_1525dup (p.Tyr509fs)	NLRP12 (Y509fs)	Duplication (frameshift variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2994135	NM_144687.4(NLRP12):c.3099-19T>G	NLRP12	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2993961	NM_144687.4(NLRP12):c.1780T>C (p.Trp594Arg)	NLRP12 (W594R)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2990855	NM_144687.4(NLRP12):c.1206C>T (p.Phe402=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2989825	NM_144687.4(NLRP12):c.1383G>A (p.Leu461=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2988555	NM_144687.4(NLRP12):c.1709A>C (p.Glu570Ala)	NLRP12 (E570A)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2987569	NM_144687.4(NLRP12):c.2997C>G (p.Thr999=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2986291	NM_144687.4(NLRP12):c.3061C>T (p.Arg1021Trp)	NLRP12 (R964W +2 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2982603	NM_144687.4(NLRP12):c.1929del (p.Lys644fs)	NLRP12 (K644fs)	Deletion (frameshift variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2980367	NM_144687.4(NLRP12):c.2980C>G (p.Leu994Val)	NLRP12 (L937V +2 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2979531	NM_144687.4(NLRP12):c.3098+6G>T	NLRP12	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2977560	NM_144687.4(NLRP12):c.1856A>G (p.Glu619Gly)	NLRP12 (E619G)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2976412	NM_144687.4(NLRP12):c.2394G>C (p.Gln798His)	NLRP12 (Q799H +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2974712	NM_144687.4(NLRP12):c.2371T>C (p.Cys791Arg)	NLRP12 (C792R +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2971582	NM_144687.4(NLRP12):c.2417T>G (p.Leu806Trp)	NLRP12 (L807W +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2971376	NM_144687.4(NLRP12):c.739C>T (p.Leu247Phe)	NLRP12 (L247F)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2971182	NM_144687.4(NLRP12):c.2191A>G (p.Lys731Glu)	NLRP12 (K732E +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2969129	NM_144687.4(NLRP12):c.716T>C (p.Leu239Pro)	NLRP12 (L239P)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2968141	NM_144687.4(NLRP12):c.1367C>T (p.Pro456Leu)	NLRP12 (P456L)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2957889	NM_144687.4(NLRP12):c.2837T>C (p.Leu946Pro)	NLRP12 (L946P +1 more)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2921013	NM_144687.4(NLRP12):c.3015G>A (p.Leu1005=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2919603	NM_144687.4(NLRP12):c.430A>G (p.Asn144Asp)	NLRP12 (N144D)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2919592	NM_144687.4(NLRP12):c.2277C>T (p.Cys759=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2916072	NM_144687.4(NLRP12):c.154G>C (p.Gly52Arg)	NLRP12 (G52R)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2914215	NM_144687.4(NLRP12):c.2960G>C (p.Cys987Ser)	NLRP12 (C930S +2 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2913064	NM_144687.4(NLRP12):c.371-14T>G	NLRP12	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2909852	NM_144687.4(NLRP12):c.1027C>A (p.Arg343=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2906282	NM_144687.4(NLRP12):c.2072+20C>T	NLRP12	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2905822	NM_144687.4(NLRP12):c.8G>A (p.Arg3Gln)	NLRP12 (R3Q)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2904033	NM_144687.4(NLRP12):c.664G>A (p.Gly222Ser)	NLRP12 (G222S)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2903899	NM_144687.4(NLRP12):c.2862A>G (p.Gly954=)	NLRP12	Single nucleotide variant (synonymous variant +1 more)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2903635	NM_144687.4(NLRP12):c.105G>A (p.Ala35=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2901501	NM_144687.4(NLRP12):c.1953G>C (p.Ser651=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2899031	NM_144687.4(NLRP12):c.1055G>A (p.Arg352His)	NLRP12 (R352H)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2898717	NM_144687.4(NLRP12):c.2568C>T (p.Cys856=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2897221	NM_144687.4(NLRP12):c.2665C>T (p.Leu889=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2896114	NM_144687.4(NLRP12):c.713A>G (p.Lys238Arg)	NLRP12 (K238R)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2895303	NM_144687.4(NLRP12):c.193G>A (p.Gly65Arg)	NLRP12 (G65R)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2891534	NM_144687.4(NLRP12):c.865C>G (p.Leu289Val)	NLRP12 (L289V)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2890983	NM_144687.4(NLRP12):c.2927+19C>T	NLRP12	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2890223	NM_144687.4(NLRP12):c.1682G>A (p.Arg561His)	NLRP12 (R561H)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2889824	NM_144687.4(NLRP12):c.1600G>A (p.Gly534Arg)	NLRP12 (G534R)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2889766	NM_144687.4(NLRP12):c.1266dup (p.Leu423fs)	NLRP12 (L423fs)	Duplication (frameshift variant)	Familial cold autoinflammatory syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 2885439	NM_144687.4(NLRP12):c.1060C>A (p.Leu354Met)	NLRP12 (L354M)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2883455	NM_144687.4(NLRP12):c.1480T>C (p.Phe494Leu)	NLRP12 (F494L)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2882173	NM_144687.4(NLRP12):c.2225G>A (p.Cys742Tyr)	NLRP12 (C742Y +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2880365	NM_144687.4(NLRP12):c.1620C>A (p.Asp540Glu)	NLRP12 (D540E)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2876090	NM_144687.4(NLRP12):c.2756+7C>A	NLRP12	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2871176	NM_144687.4(NLRP12):c.2514A>G (p.Ala838=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2867958	NM_144687.4(NLRP12):c.1912G>A (p.Val638Ile)	NLRP12 (V638I)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2862368	NM_144687.4(NLRP12):c.2928-19_2928-14dup	NLRP12	Duplication (intron variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2859054	NM_144687.4(NLRP12):c.405G>T (p.Arg135Ser)	NLRP12 (R135S)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2854836	NM_144687.4(NLRP12):c.1746G>T (p.Lys582Asn)	NLRP12 (K582N)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2854835	NM_144687.4(NLRP12):c.2072+17_2072+28del	NLRP12	Deletion (intron variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2854807	NM_144687.4(NLRP12):c.709G>C (p.Gly237Arg)	NLRP12 (G237R)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2 +1 more	GUncertain significance
Select item 2854584	NM_144687.4(NLRP12):c.2757-12C>T	NLRP12	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2852923	NM_144687.4(NLRP12):c.1403G>C (p.Gly468Ala)	NLRP12 (G468A)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2852922	NM_144687.4(NLRP12):c.978C>A (p.Ser326Arg)	NLRP12 (S326R)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2851785	NM_144687.4(NLRP12):c.1236C>G (p.Thr412=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2847999	NM_144687.4(NLRP12):c.2585+13T>C	NLRP12	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2846641	NM_144687.4(NLRP12):c.1590G>C (p.Glu530Asp)	NLRP12 (E530D)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2845703	NM_144687.4(NLRP12):c.2631C>T (p.Ala877=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2845467	NM_144687.4(NLRP12):c.1358dup (p.Pro454fs)	NLRP12 (P454fs)	Duplication (frameshift variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2843932	NM_144687.4(NLRP12):c.1804G>A (p.Asp602Asn)	NLRP12 (D602N)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2842072	NM_144687.4(NLRP12):c.49T>C (p.Leu17=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2838396	NM_144687.4(NLRP12):c.2033C>T (p.Ala678Val)	NLRP12 (A678V)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2838392	NM_144687.4(NLRP12):c.2107G>A (p.Glu703Lys)	NLRP12 (E704K +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2830728	NM_144687.4(NLRP12):c.331A>C (p.Thr111Pro)	NLRP12 (T111P)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2828878	NM_144687.4(NLRP12):c.1022C>A (p.Thr341Asn)	NLRP12 (T341N)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2825783	NM_144687.4(NLRP12):c.2893C>T (p.Leu965=)	NLRP12	Single nucleotide variant (synonymous variant +1 more)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2821757	NM_144687.4(NLRP12):c.753C>T (p.Asn251=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2820821	NM_144687.4(NLRP12):c.634_636dup (p.Thr212_Val213insThr)	NLRP12	Duplication (inframe_insertion)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2818878	NM_144687.4(NLRP12):c.421del (p.Glu141fs)	NLRP12 (E141fs)	Deletion (frameshift variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2816794	NM_144687.4(NLRP12):c.741C>G (p.Leu247=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2815533	NM_144687.4(NLRP12):c.370+4A>G	NLRP12	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2814760	NM_144687.4(NLRP12):c.2642G>C (p.Ser881Thr)	NLRP12 (S881T +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2814697	NM_144687.4(NLRP12):c.21G>A (p.Arg7=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2814689	NM_144687.4(NLRP12):c.633C>T (p.Arg211=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2807388	NM_144687.4(NLRP12):c.659G>C (p.Gly220Ala)	NLRP12 (G220A)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2807286	NM_144687.4(NLRP12):c.1901A>T (p.Gln634Leu)	NLRP12 (Q634L)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2806991	NM_144687.4(NLRP12):c.1647G>C (p.Ala549=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 2804769	NM_144687.4(NLRP12):c.2072T>A (p.Leu691Gln)	NLRP12 (L691H +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2804527	NM_144687.4(NLRP12):c.2954A>T (p.Lys985Met)	NLRP12 (K928M +2 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2803023	NM_144687.4(NLRP12):c.1832T>C (p.Leu611Ser)	NLRP12 (L611S)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2799693	NM_144687.4(NLRP12):c.2772_2785dup (p.Ala929fs)	NLRP12 (A929fs +1 more)	Duplication (frameshift variant +1 more)	Familial cold autoinflammatory syndrome 2	GUncertain significance

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