"Ambry Genetics"[submitter] AND "NLRC4"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 644477	NM_001199138.2(NLRC4):c.3062T>A (p.Leu1021Gln)	NLRC4 (L1021Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1481766	NM_001199138.2(NLRC4):c.3025G>T (p.Asp1009Tyr)	NLRC4 (D1009Y +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +2 more	GUncertain significance
Select item 656380	NM_001199138.2(NLRC4):c.2925A>C (p.Lys975Asn)	NLRC4 (K310N +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2318702	NM_001199138.2(NLRC4):c.2720C>T (p.Pro907Leu)	NLRC4 (P242L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1694375	NM_001199138.2(NLRC4):c.2716G>A (p.Val906Ile)	NLRC4 (V241I +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +3 more	GUncertain significance
Select item 2323440	NM_001199138.2(NLRC4):c.2714A>G (p.Glu905Gly)	NLRC4 (E240G +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
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 643212	NM_001199138.2(NLRC4):c.2647G>A (p.Ala883Thr)	NLRC4 (A218T +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 2381736	NM_001199138.2(NLRC4):c.2558T>C (p.Leu853Pro)	NLRC4 (L853P +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
Select item 2528402	NM_001199138.2(NLRC4):c.2464C>A (p.Leu822Ile)	NLRC4 (L157I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200484	NM_001199138.2(NLRC4):c.2278G>T (p.Gly760Cys)	NLRC4 (G760C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2923522	NM_001199138.2(NLRC4):c.2030T>A (p.Ile677Asn)	NLRC4 (I677N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1053371	NM_001199138.2(NLRC4):c.1934C>T (p.Pro645Leu)	NLRC4 (P645L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1490605	NM_001199138.2(NLRC4):c.1891A>G (p.Thr631Ala)	NLRC4 (T631A)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +2 more	GUncertain significance
Select item 2604740	NM_001199138.2(NLRC4):c.1652T>G (p.Ile551Ser)	NLRC4 (I551S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 860903	NM_001199138.2(NLRC4):c.1628A>C (p.Gln543Pro)	NLRC4 (Q543P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1039274	NM_001199138.2(NLRC4):c.1624G>A (p.Glu542Lys)	NLRC4 (E542K)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +3 more	GUncertain significance
Select item 1419400	NM_001199138.2(NLRC4):c.1579C>A (p.Pro527Thr)	NLRC4 (P527T)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +2 more	GUncertain significance
Select item 1488206	NM_001199138.2(NLRC4):c.1574A>G (p.Lys525Arg)	NLRC4 (K525R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1979388	NM_001199138.2(NLRC4):c.1558G>A (p.Gly520Arg)	NLRC4 (G520R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1694363	NM_001199138.2(NLRC4):c.1550G>C (p.Cys517Ser)	NLRC4 (C517S)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +4 more	GConflicting classifications of pathogenicity
Select item 3200483	NM_001199138.2(NLRC4):c.1442C>T (p.Ser481Leu)	NLRC4 (S481L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475038	NM_001199138.2(NLRC4):c.1348A>C (p.Thr450Pro)	NLRC4 (T450P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1369658	NM_001199138.2(NLRC4):c.1276C>A (p.Leu426Ile)	NLRC4 (L426I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3200482	NM_001199138.2(NLRC4):c.1273G>A (p.Gly425Arg)	NLRC4 (G425R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536759	NM_001199138.2(NLRC4):c.1271C>A (p.Thr424Asn)	NLRC4 (T424N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308839	NM_001199138.2(NLRC4):c.1003A>C (p.Met335Leu)	NLRC4 (M335L)	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 2545626	NM_001199138.2(NLRC4):c.952G>C (p.Ala318Pro)	NLRC4 (A318P)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +2 more	GUncertain significance
Select item 575189	NM_001199138.2(NLRC4):c.871G>A (p.Gly291Ser)	NLRC4 (G291S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1103952	NM_001199138.2(NLRC4):c.822G>C (p.Met274Ile)	NLRC4 (M274I)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +2 more	GConflicting classifications of pathogenicity
Select item 2323586	NM_001199138.2(NLRC4):c.713A>G (p.Lys238Arg)	NLRC4 (K238R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1414057	NM_001199138.2(NLRC4):c.704T>C (p.Met235Thr)	NLRC4 (M235T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 1439372	NM_001199138.2(NLRC4):c.577G>C (p.Ala193Pro)	NLRC4 (A193P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 649854	NM_001199138.2(NLRC4):c.572G>T (p.Cys191Phe)	NLRC4 (C191F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 655811	NM_001199138.2(NLRC4):c.476A>G (p.Gln159Arg)	NLRC4 (Q159R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2041740	NM_001199138.2(NLRC4):c.442C>T (p.Arg148Cys)	NLRC4 (R148C)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +2 more	GUncertain significance
Select item 708456	NM_001199138.2(NLRC4):c.433C>T (p.His145Tyr)	NLRC4 (H145Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 1125911	NM_001199138.2(NLRC4):c.298G>A (p.Asp100Asn)	NLRC4 (D100N)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +2 more	GConflicting classifications of pathogenicity
Select item 1958279	NM_001199138.2(NLRC4):c.297C>A (p.Asp99Glu)	NLRC4 (D99E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 663197	NM_001199138.2(NLRC4):c.281C>T (p.Ser94Leu)	NLRC4 (S94L)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 4 +3 more	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 3299990	NM_001199138.2(NLRC4):c.113T>G (p.Val38Gly)	NLRC4 (V38G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 848250	NM_001199138.2(NLRC4):c.112G>A (p.Val38Ile)	NLRC4 (V38I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1020930	NM_001199138.2(NLRC4):c.26G>A (p.Arg9Gln)	NLRC4 (R9Q)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity

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Items: 51