ClinVar for MedGen (Select 863504) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247410	NC_000002.11:g.(?_32288901)_(32449854_?)del	SLC30A6, NLRC4 +1 more	Deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3247409	NC_000002.11:g.(?_32460450)_(32460657_?)del	NLRC4	Deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 2954524	NM_001199138.2(NLRC4):c.2783-13T>A	NLRC4	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 2954463	NM_001199138.2(NLRC4):c.944A>T (p.Lys315Met)	NLRC4 (K315M)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2954342	NM_001199138.2(NLRC4):c.515G>A (p.Gly172Asp)	NLRC4 (G172D)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2954171	NM_001199138.2(NLRC4):c.745G>A (p.Gly249Ser)	NLRC4 (G249S)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2954051	NM_001199138.2(NLRC4):c.1031C>T (p.Thr344Ile)	NLRC4 (T344I)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2954048	NM_001199138.2(NLRC4):c.1444G>C (p.Asp482His)	NLRC4 (D482H)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2953549	NM_001199138.2(NLRC4):c.331A>T (p.Thr111Ser)	NLRC4 (T111S)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 2952587	NM_001199138.2(NLRC4):c.1982C>T (p.Thr661Ile)	NLRC4 (T661I)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 2952050	NM_001199138.2(NLRC4):c.1155C>T (p.Asp385=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 2951886	NM_001199138.2(NLRC4):c.318G>C (p.Lys106Asn)	NLRC4 (K106N)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 2951882	NM_001199138.2(NLRC4):c.1944T>C (p.Ala648=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 2950526	NM_001199138.2(NLRC4):c.1575G>T (p.Lys525Asn)	NLRC4 (K525N)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 2950309	NM_001199138.2(NLRC4):c.2126G>A (p.Ser709Asn)	NLRC4 (S709N)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 2949797	NM_001199138.2(NLRC4):c.2600C>T (p.Ala867Val)	NLRC4 (A202V +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 2949369	NM_001199138.2(NLRC4):c.2756T>A (p.Leu919His)	NLRC4 (L254H +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2948956	NM_001199138.2(NLRC4):c.1925C>A (p.Thr642Asn)	NLRC4 (T642N)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2948953	NM_001199138.2(NLRC4):c.1047G>A (p.Met349Ile)	NLRC4 (M349I)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2948894	NM_001199138.2(NLRC4):c.1933C>T (p.Pro645Ser)	NLRC4 (P645S)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2948746	NM_001199138.2(NLRC4):c.2043G>A (p.Gly681=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 2948672	NM_001199138.2(NLRC4):c.1331A>G (p.Lys444Arg)	NLRC4 (K444R)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2948249	NM_001199138.2(NLRC4):c.608T>A (p.Leu203His)	NLRC4 (L203H)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2948101	NM_001199138.2(NLRC4):c.1098C>T (p.Phe366=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 2947880	NM_001199138.2(NLRC4):c.1952T>C (p.Leu651Ser)	NLRC4 (L651S)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2947003	NM_001199138.2(NLRC4):c.1067C>T (p.Ser356Phe)	NLRC4 (S356F)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2946670	NM_001199138.2(NLRC4):c.2669G>A (p.Cys890Tyr)	NLRC4 (C890Y +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2946648	NM_001199138.2(NLRC4):c.2615T>A (p.Ile872Asn)	NLRC4 (I872N +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2946276	NM_001199138.2(NLRC4):c.2496G>A (p.Leu832=)	NLRC4	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 2945395	NM_001199138.2(NLRC4):c.52A>G (p.Thr18Ala)	NLRC4 (T18A)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2945319	NM_001199138.2(NLRC4):c.817A>T (p.Asn273Tyr)	NLRC4 (N273Y)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2945138	NM_001199138.2(NLRC4):c.1543C>T (p.His515Tyr)	NLRC4 (H515Y)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2944979	NM_001199138.2(NLRC4):c.292T>G (p.Leu98Val)	NLRC4 (L98V)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2944790	NM_001199138.2(NLRC4):c.2617G>A (p.Asp873Asn)	NLRC4 (D208N +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2944729	NM_001199138.2(NLRC4):c.825C>A (p.Val275=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 2944060	NM_001199138.2(NLRC4):c.1895G>A (p.Gly632Asp)	NLRC4 (G632D)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2943828	NM_001199138.2(NLRC4):c.591C>T (p.Phe197=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2943426	NM_001199138.2(NLRC4):c.3070G>A (p.Ala1024Thr)	NLRC4 (A1024T +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2943397	NM_001199138.2(NLRC4):c.2602C>T (p.Leu868Phe)	NLRC4 (L203F +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2943234	NM_001199138.2(NLRC4):c.265del (p.Leu89fs)	NLRC4 (L89fs)	Deletion (frameshift variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 2942897	NM_001199138.2(NLRC4):c.489C>G (p.Ser163Arg)	NLRC4 (S163R)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2942858	NM_001199138.2(NLRC4):c.2309T>G (p.Met770Arg)	NLRC4 (M105R +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2942744	NM_001199138.2(NLRC4):c.2325G>C (p.Met775Ile)	NLRC4 (M110I +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2942715	NM_001199138.2(NLRC4):c.2672A>C (p.Asp891Ala)	NLRC4 (D226A +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2942569	NM_001199138.2(NLRC4):c.1758_1759insGGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGCCTCCCTCTCCCTCTCCCCGTCTCCCTCTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGCTTATATATC (p.Asn587fs)	NLRC4 (N587fs)	Insertion (frameshift variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2942525	NM_001199138.2(NLRC4):c.1149A>C (p.Ala383=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 2942480	NM_001199138.2(NLRC4):c.569A>G (p.Lys190Arg)	NLRC4 (K190R)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2942105	NM_001199138.2(NLRC4):c.2351C>G (p.Ala784Gly)	NLRC4 (A784G +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2941903	NM_001199138.2(NLRC4):c.2105G>A (p.Gly702Glu)	NLRC4 (G702E)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2941897	NM_001199138.2(NLRC4):c.1608T>C (p.Ser536=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 2941624	NM_001199138.2(NLRC4):c.2111T>C (p.Leu704Pro)	NLRC4 (L704P)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 2941439	NM_001199138.2(NLRC4):c.2616C>A (p.Ile872=)	NLRC4	Single nucleotide variant (synonymous variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 2941420	NM_001199138.2(NLRC4):c.2258-5G>C	NLRC4	Single nucleotide variant (intron variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 2941363	NM_001199138.2(NLRC4):c.1512T>C (p.Ala504=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 2941128	NM_001199138.2(NLRC4):c.1244G>C (p.Ser415Thr)	NLRC4 (S415T)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 2940971	NM_001199138.2(NLRC4):c.1561C>T (p.Leu521Phe)	NLRC4 (L521F)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 2940957	NM_001199138.2(NLRC4):c.730C>A (p.Leu244Ile)	NLRC4 (L244I)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 2940874	NM_001199138.2(NLRC4):c.430C>G (p.Gln144Glu)	NLRC4 (Q144E)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 2940742	NM_001199138.2(NLRC4):c.2064A>G (p.Thr688=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 2940260	NM_001199138.2(NLRC4):c.2658G>A (p.Leu886=)	NLRC4	Single nucleotide variant (synonymous variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 2940112	NM_001199138.2(NLRC4):c.2939A>T (p.Asp980Val)	NLRC4 (D980V +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 2940056	NM_001199138.2(NLRC4):c.1171G>A (p.Asp391Asn)	NLRC4 (D391N)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 2939998	NM_001199138.2(NLRC4):c.1384C>T (p.His462Tyr)	NLRC4 (H462Y)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 2939883	NM_001199138.2(NLRC4):c.459C>T (p.Thr153=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 2939566	NM_001199138.2(NLRC4):c.1706C>T (p.Ser569Leu)	NLRC4 (S569L)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2939277	NM_001199138.2(NLRC4):c.2359C>G (p.Leu787Val)	NLRC4 (L122V +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2938854	NM_001199138.2(NLRC4):c.2035T>C (p.Tyr679His)	NLRC4 (Y679H)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2938847	NM_001199138.2(NLRC4):c.3026A>G (p.Asp1009Gly)	NLRC4 (D1009G +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2938805	NM_001199138.2(NLRC4):c.2765_2766del (p.Thr922fs)	NLRC4 (T257fs +1 more)	Deletion (frameshift variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2938483	NM_001199138.2(NLRC4):c.1625A>G (p.Glu542Gly)	NLRC4 (E542G)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2938454	NM_001199138.2(NLRC4):c.2351-18C>T	NLRC4	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 2938307	NM_001199138.2(NLRC4):c.893G>A (p.Gly298Glu)	NLRC4 (G298E)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2938220	NM_001199138.2(NLRC4):c.2782+18G>A	NLRC4	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 2938142	NM_001199138.2(NLRC4):c.1252G>A (p.Glu418Lys)	NLRC4 (E418K)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2937892	NM_001199138.2(NLRC4):c.2828A>G (p.Asn943Ser)	NLRC4 (N278S +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2937794	NM_001199138.2(NLRC4):c.1610T>C (p.Val537Ala)	NLRC4 (V537A)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2937717	NM_001199138.2(NLRC4):c.2615-20C>A	NLRC4	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 2937506	NM_001199138.2(NLRC4):c.1812T>G (p.Asn604Lys)	NLRC4 (N604K)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 2937354	NM_001199138.2(NLRC4):c.852G>A (p.Leu284=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 2937239	NM_001199138.2(NLRC4):c.967C>T (p.Leu323Phe)	NLRC4 (L323F)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 2937128	NM_001199138.2(NLRC4):c.1536G>C (p.Val512=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 2937092	NM_001199138.2(NLRC4):c.2842C>T (p.Arg948Cys)	NLRC4 (R283C +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 2936555	NM_001199138.2(NLRC4):c.263-19A>G	NLRC4	Single nucleotide variant (intron variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 2936476	NM_001199138.2(NLRC4):c.2351-11T>C	NLRC4	Single nucleotide variant (intron variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 2936419	NM_001199138.2(NLRC4):c.456G>A (p.Leu152=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 2935456	NM_001199138.2(NLRC4):c.2900T>C (p.Leu967Ser)	NLRC4 (L302S +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 2935337	NM_001199138.2(NLRC4):c.2521+12T>G	NLRC4	Single nucleotide variant (intron variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 2935012	NM_001199138.2(NLRC4):c.768G>A (p.Gln256=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 2934710	NM_001199138.2(NLRC4):c.1777G>A (p.Asp593Asn)	NLRC4 (D593N)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 2933660	NM_001199138.2(NLRC4):c.2688G>A (p.Leu896=)	NLRC4	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 2933149	NM_001199138.2(NLRC4):c.2772T>C (p.Ile924=)	NLRC4	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 2933087	NM_001199138.2(NLRC4):c.2826G>C (p.Leu942Phe)	NLRC4 (L277F +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2932991	NM_001199138.2(NLRC4):c.263-11T>C	NLRC4	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 2932910	NM_001199138.2(NLRC4):c.262+10A>G	NLRC4	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 2932830	NM_001199138.2(NLRC4):c.337T>C (p.Ser113Pro)	NLRC4 (S113P)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2932582	NM_001199138.2(NLRC4):c.2656_2657delinsGG (p.Leu886Gly)	NLRC4 (L221G +1 more)	Indel (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2932480	NM_001199138.2(NLRC4):c.585C>G (p.Thr195=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 2932229	NM_001199138.2(NLRC4):c.128G>A (p.Cys43Tyr)	NLRC4 (C43Y)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 2932044	NM_001199138.2(NLRC4):c.2782+9A>T	NLRC4	Single nucleotide variant (intron variant)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 2931905	NM_001199138.2(NLRC4):c.1257T>A (p.Asp419Glu)	NLRC4 (D419E)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance

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