ClinVar for Gene (Select 58484) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3902093	NM_001199138.2(NLRC4):c.1204T>C (p.Phe402Leu)	NLRC4 (F402L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3896132	NC_000002.11:g.(?_32449517)_(32490813_?)dup	NLRC4	Duplication	not specified	GUncertain significance
Select item 3895650	NC_000002.11:g.(32460638_32461315)_(32466195_32474675)del	NLRC4	Deletion	not specified	GUncertain significance
Select item 3891839	NM_001199138.2(NLRC4):c.1621_1623del (p.Thr541del)	NLRC4 (T541del)	Deletion (inframe_deletion +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3891838	NM_001199138.2(NLRC4):c.1908G>A (p.Met636Ile)	NLRC4 (M636I)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3879852	NM_001199138.2(NLRC4):c.1825C>G (p.Leu609Val)	NLRC4 (L609V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3879851	NM_001199138.2(NLRC4):c.584C>A (p.Thr195Asn)	NLRC4 (T195N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3879850	NM_001199138.2(NLRC4):c.143A>T (p.Gln48Leu)	NLRC4 (Q48L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3771408	NM_001199138.2(NLRC4):c.122T>C (p.Ile41Thr)	NLRC4 (I41T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3764062	NM_001199138.2(NLRC4):c.2856T>C (p.Asp952=)	NLRC4	Single nucleotide variant (synonymous variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 3763617	NM_001199138.2(NLRC4):c.2782+13A>G	NLRC4	Single nucleotide variant (intron variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 3763320	NM_001199138.2(NLRC4):c.2257+2T>C	NLRC4	Single nucleotide variant (intron variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3763269	NM_001199138.2(NLRC4):c.2350+15C>G	NLRC4	Single nucleotide variant (intron variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 3763057	NM_001199138.2(NLRC4):c.3002G>C (p.Arg1001Thr)	NLRC4 (R1001T +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3762696	NM_001199138.2(NLRC4):c.2783-14dup	NLRC4	Duplication (intron variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 3762679	NM_001199138.2(NLRC4):c.2614+15T>G	NLRC4	Single nucleotide variant (intron variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GBenign
Select item 3761940	NM_001199138.2(NLRC4):c.910A>G (p.Ser304Gly)	NLRC4 (S304G)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3761796	NM_001199138.2(NLRC4):c.1260C>T (p.Val420=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 3761705	NM_001199138.2(NLRC4):c.2926G>T (p.Glu976Ter)	NLRC4 (E311* +1 more)	Single nucleotide variant (nonsense)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3760231	NM_001199138.2(NLRC4):c.2351-8T>C	NLRC4	Single nucleotide variant (intron variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 3760152	NM_001199138.2(NLRC4):c.1015del (p.Leu339fs)	NLRC4 (L339fs)	Deletion (frameshift variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 3759897	NM_001199138.2(NLRC4):c.2-4T>C	NLRC4	Single nucleotide variant (intron variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 3759319	NM_001199138.2(NLRC4):c.1179T>C (p.Cys393=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 3758266	NM_001199138.2(NLRC4):c.2258-11T>C	NLRC4	Single nucleotide variant (intron variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 3757993	NM_001199138.2(NLRC4):c.1276C>T (p.Leu426Phe)	NLRC4 (L426F)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3757965	NM_001199138.2(NLRC4):c.548C>A (p.Ala183Asp)	NLRC4 (A183D)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3757818	NM_001199138.2(NLRC4):c.658C>G (p.Leu220Val)	NLRC4 (L220V)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3757581	NM_001199138.2(NLRC4):c.414C>T (p.Val138=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 3757485	NM_001199138.2(NLRC4):c.2323A>G (p.Met775Val)	NLRC4 (M110V +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3757411	NM_001199138.2(NLRC4):c.1852G>T (p.Gly618Trp)	NLRC4 (G618W)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3757335	NM_001199138.2(NLRC4):c.334C>T (p.Pro112Ser)	NLRC4 (P112S)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 3757309	NM_001199138.2(NLRC4):c.639T>G (p.Phe213Leu)	NLRC4 (F213L)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 3757190	NM_001199138.2(NLRC4):c.730C>T (p.Leu244Phe)	NLRC4 (L244F)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 3757189	NM_001199138.2(NLRC4):c.731_732insCC (p.Phe245fs)	NLRC4 (F245fs)	Insertion (frameshift variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 3757146	NM_001199138.2(NLRC4):c.1206C>T (p.Phe402=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 3756933	NM_001199138.2(NLRC4):c.2744A>G (p.Lys915Arg)	NLRC4 (K250R +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 3756911	NM_001199138.2(NLRC4):c.953C>A (p.Ala318Asp)	NLRC4 (A318D)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 3756784	NM_001199138.2(NLRC4):c.151G>A (p.Ala51Thr)	NLRC4 (A51T)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 3756620	NM_001199138.2(NLRC4):c.488G>A (p.Ser163Asn)	NLRC4 (S163N)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 3756172	NM_001199138.2(NLRC4):c.594A>G (p.Lys198=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GLikely benign
Select item 3755916	NM_001199138.2(NLRC4):c.1082C>A (p.Thr361Lys)	NLRC4 (T361K)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 3755844	NM_001199138.2(NLRC4):c.2336A>T (p.Asp779Val)	NLRC4 (D114V +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 3755830	NM_001199138.2(NLRC4):c.2372AGA[1] (p.Lys792del)	NLRC4 (K127del +1 more)	Microsatellite (inframe_deletion)	Familial cold autoinflammatory syndrome 4 +1 more	GUncertain significance
Select item 3755107	NM_001199138.2(NLRC4):c.3025G>C (p.Asp1009His)	NLRC4 (D1009H +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3754664	NM_001199138.2(NLRC4):c.2257+15A>C	NLRC4	Single nucleotide variant (intron variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 3754662	NM_001199138.2(NLRC4):c.2774G>C (p.Arg925Thr)	NLRC4 (R260T +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3754372	NM_001199138.2(NLRC4):c.2673C>T (p.Asp891=)	NLRC4	Single nucleotide variant (synonymous variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GBenign
Select item 3754340	NM_001199138.2(NLRC4):c.969C>T (p.Leu323=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 3754304	NM_001199138.2(NLRC4):c.28G>T (p.Ala10Ser)	NLRC4 (A10S)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3753364	NM_001199138.2(NLRC4):c.762G>T (p.Lys254Asn)	NLRC4 (K254N)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3753263	NM_001199138.2(NLRC4):c.525G>A (p.Lys175=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 3753244	NM_001199138.2(NLRC4):c.1019T>C (p.Phe340Ser)	NLRC4 (F340S)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3752714	NM_001199138.2(NLRC4):c.1849T>C (p.Tyr617His)	NLRC4 (Y617H)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3752240	NM_001199138.2(NLRC4):c.1481C>G (p.Thr494Ser)	NLRC4 (T494S)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3752216	NM_001199138.2(NLRC4):c.2257+16G>A	NLRC4	Single nucleotide variant (intron variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 3751188	NM_001199138.2(NLRC4):c.2351-12A>G	NLRC4	Single nucleotide variant (intron variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 3750944	NM_001199138.2(NLRC4):c.1596A>G (p.Glu532=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 3750943	NM_001199138.2(NLRC4):c.1597_1605del (p.Leu534_Ser536del)	NLRC4	Deletion (inframe_deletion +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3750517	NM_001199138.2(NLRC4):c.2969T>G (p.Val990Gly)	NLRC4 (V325G +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3750363	NM_001199138.2(NLRC4):c.1577G>C (p.Arg526Thr)	NLRC4 (R526T)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3750185	NM_001199138.2(NLRC4):c.2783-20A>G	NLRC4	Single nucleotide variant (intron variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 3750142	NM_001199138.2(NLRC4):c.2521+1G>A	NLRC4	Single nucleotide variant (splice donor variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3749853	NM_001199138.2(NLRC4):c.2257+1G>A	NLRC4	Single nucleotide variant (intron variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3749790	NM_001199138.2(NLRC4):c.905A>C (p.Glu302Ala)	NLRC4 (E302A)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3749710	NM_001199138.2(NLRC4):c.1939del (p.Arg647fs)	NLRC4 (R647fs)	Deletion (frameshift variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 3749664	NM_001199138.2(NLRC4):c.134A>T (p.Lys45Met)	NLRC4 (K45M)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3749661	NM_001199138.2(NLRC4):c.1320A>G (p.Lys440=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 3749569	NM_001199138.2(NLRC4):c.235C>T (p.Pro79Ser)	NLRC4 (P79S)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3749530	NM_001199138.2(NLRC4):c.1104T>C (p.Asp368=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 3749275	NM_001199138.2(NLRC4):c.92A>G (p.Asn31Ser)	NLRC4 (N31S)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3749227	NM_001199138.2(NLRC4):c.2205A>T (p.Val735=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 3748860	NM_001199138.2(NLRC4):c.1915G>T (p.Ala639Ser)	NLRC4 (A639S)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3748847	NM_001199138.2(NLRC4):c.703A>G (p.Met235Val)	NLRC4 (M235V)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3748692	NM_001199138.2(NLRC4):c.49A>G (p.Met17Val)	NLRC4 (M17V)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3748615	NM_001199138.2(NLRC4):c.2782+16C>T	NLRC4	Single nucleotide variant (intron variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 3748344	NM_001199138.2(NLRC4):c.2096G>C (p.Gly699Ala)	NLRC4 (G699A)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 3748260	NM_001199138.2(NLRC4):c.2568A>G (p.Ser856=)	NLRC4	Single nucleotide variant (synonymous variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 3406029	NM_001199138.2(NLRC4):c.868T>A (p.Phe290Ile)	NLRC4 (F290I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3406028	NM_001199138.2(NLRC4):c.1190C>G (p.Ala397Gly)	NLRC4 (A397G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3406027	NM_001199138.2(NLRC4):c.1693A>G (p.Ser565Gly)	NLRC4 (S565G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3406026	NM_001199138.2(NLRC4):c.2507C>T (p.Ala836Val)	NLRC4 (A171V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3391842	GRCh37/hg19 2p24.1-22.2(chr2:20938401-37327210)x3	ADCY3, ADGRF3 +112 more	Copy number gain	not provided	GPathogenic
Select item 3388804	NM_001199138.2(NLRC4):c.1533A>C (p.Ala511=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3381495	NM_001199138.2(NLRC4):c.1025T>G (p.Val342Gly)	NLRC4 (V342G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3353668	NM_001199138.2(NLRC4):c.845A>G (p.Glu282Gly)	NLRC4 (E282G)	Single nucleotide variant (missense variant +1 more)	NLRC4-related disorder	GUncertain significance
Select item 3339407	NM_001199138.2(NLRC4):c.*13C>G	NLRC4	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3299991	NM_001199138.2(NLRC4):c.2173A>C (p.Thr725Pro)	NLRC4 (T725P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3299990	NM_001199138.2(NLRC4):c.113T>G (p.Val38Gly)	NLRC4 (V38G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299989	NM_001199138.2(NLRC4):c.148G>T (p.Ala50Ser)	NLRC4 (A50S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299988	NM_001199138.2(NLRC4):c.371T>A (p.Ile124Asn)	NLRC4 (I124N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3299987	NM_001199138.2(NLRC4):c.994A>G (p.Arg332Gly)	NLRC4 (R332G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3252911	NM_001199138.2(NLRC4):c.2846T>C (p.Val949Ala)	NLRC4 (V284A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3242042	NM_001199138.2(NLRC4):c.1212C>G (p.His404Gln)	NLRC4 (H404Q)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4	GUncertain significance
Select item 3200489	NM_001199138.2(NLRC4):c.597C>G (p.Phe199Leu)	NLRC4 (F199L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3200488	NM_001199138.2(NLRC4):c.2657T>G (p.Leu886Arg)	NLRC4 (L221R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200487	NM_001199138.2(NLRC4):c.2656C>G (p.Leu886Val)	NLRC4 (L886V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200486	NM_001199138.2(NLRC4):c.2629G>T (p.Val877Leu)	NLRC4 (V212L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200485	NM_001199138.2(NLRC4):c.2501C>A (p.Ala834Glu)	NLRC4 (A169E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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