"GeneDx"[submitter] AND "NLRC4"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60108	GRCh38/hg38 2p23.1-22.3(chr2:31370181-32512769)x1	BIRC6, DPY30 +28 more	Copy number loss	See cases	GPathogenic
Select item 971521	NM_001199138.2(NLRC4):c.2876G>C (p.Gly959Ala)	NLRC4 (G294A +1 more)	Single nucleotide variant (missense variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +2 more	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 1302964	NM_001199138.2(NLRC4):c.2793dup (p.Gly932fs)	NLRC4 (G267fs +1 more)	Duplication (frameshift variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +2 more	GUncertain significance
Select item 1266438	NM_001199138.2(NLRC4):c.2783-40_2783-37del	NLRC4	Deletion (intron variant)	not provided	GBenign
Select item 1234094	NM_001199138.2(NLRC4):c.2783-41_2783-38del	NLRC4	Deletion (intron variant)	not specified +1 more	GBenign
Select item 1228698	NM_001199138.2(NLRC4):c.2783-42_2783-38del	NLRC4	Deletion (intron variant)	not provided	GBenign
Select item 1267762	NM_001199138.2(NLRC4):c.2783-54_2783-51dup	NLRC4	Duplication (intron variant)	not provided	GBenign
Select item 1265361	NM_001199138.2(NLRC4):c.2783-45A>T	NLRC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261557	NM_001199138.2(NLRC4):c.2783-48_2783-46dup	NLRC4	Duplication (intron variant)	not specified +1 more	GBenign
Select item 1266457	NM_001199138.2(NLRC4):c.2782+122T>C	NLRC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1304100	NM_001199138.2(NLRC4):c.2662T>C (p.Trp888Arg)	NLRC4 (W223R +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 4 +2 more	GUncertain significance
Select item 1234644	NM_001199138.2(NLRC4):c.2615-151dup	NLRC4	Duplication (intron variant)	not provided	GBenign
Select item 1263783	NM_001199138.2(NLRC4):c.2615-182_2615-176del	NLRC4	Deletion (intron variant)	not provided	GBenign
Select item 1278429	NM_001199138.2(NLRC4):c.2522-86_2522-85insG	NLRC4	Insertion (intron variant)	not provided +1 more	GBenign
Select item 576184	NM_001199138.2(NLRC4):c.2449A>G (p.Ser817Gly)	NLRC4 (S817G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1227975	NM_001199138.2(NLRC4):c.2350+73T>C	NLRC4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 450050	NM_001199138.2(NLRC4):c.1999C>T (p.Arg667Trp)	NLRC4 (R667W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 403236	NM_001199138.2(NLRC4):c.1824C>T (p.Ala608=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 2580641	NM_001199138.2(NLRC4):c.1807C>T (p.Pro603Ser)	NLRC4 (P603S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1327219	NM_001199138.2(NLRC4):c.1691A>C (p.Glu564Ala)	NLRC4 (E564A)	Single nucleotide variant (missense variant +1 more)	not provided	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 430405	NM_001199138.2(NLRC4):c.1511C>T (p.Ala504Val)	NLRC4 (A504V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1804623	NM_001199138.2(NLRC4):c.1333T>C (p.Ser445Pro)	NLRC4 (S445P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 143224	NM_001199138.2(NLRC4):c.1022T>C (p.Val341Ala)	NLRC4 (V341A)	Single nucleotide variant (missense variant +1 more)	Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) +3 more	GPathogenic
Select item 989330	NM_001199138.2(NLRC4):c.1021G>C (p.Val341Leu)	NLRC4 (V341L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 451695	NM_001199138.2(NLRC4):c.862C>G (p.Arg288Gly)	NLRC4 (R288G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 421649	NM_001199138.2(NLRC4):c.620G>A (p.Arg207Lys)	NLRC4 (R207K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1221049	NM_001199138.2(NLRC4):c.1+50del	NLRC4	Deletion (intron variant)	not provided +1 more	GBenign
Select item 422885	NM_001199138.2(NLRC4):c.1+4_1+7del	NLRC4	Microsatellite (splice donor variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +2 more	GUncertain significance

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Items: 30