Related gene-specific medical variations for Gene (Select 58484) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247409	NC_000002.11:g.(?_32460450)_(32460657_?)del	NLRC4	Deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GUncertain significance
Select item 2434378	NM_001199138.2(NLRC4):c.904G>C (p.Glu302Gln)	NLRC4 (E302Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2429469	NM_001199138.2(NLRC4):c.1021G>T (p.Val341Leu)	NLRC4 (V341L)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome	GPathogenic
Select item 1320302	NM_001199138.2(NLRC4):c.931G>A (p.Glu311Lys)	NLRC4 (E311K)	Single nucleotide variant (missense variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome	GUncertain significance
Select item 636773	NM_001199138.2(NLRC4):c.1010C>A (p.Thr337Asn)	NLRC4 (T337N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 103083	NM_001199138.2(NLRC4):c.2782+81C>T	NLRC4	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103082	NM_001199138.2(NLRC4):c.2782+38G>C	NLRC4	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103081	NM_001199138.2(NLRC4):c.2782+102T>C	NLRC4	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103080	NM_001199138.2(NLRC4):c.2522-35A>T	NLRC4	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103079	NM_001199138.2(NLRC4):c.2521+132A>T	NLRC4	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103078	NM_001199138.2(NLRC4):c.2350+283T>C	NLRC4	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103077	NM_001199138.2(NLRC4):c.2-212C>T	NLRC4	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103076	NM_001199138.2(NLRC4):c.2-130C>G	NLRC4	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103073	NM_001199138.2(NLRC4):c.1530A>G (p.Ala510=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
Select item 103071	NM_001199138.2(NLRC4):c.-118-1G>A	NLRC4	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 102940	NM_001199138.1(NLRC4):c.-1925A>T	NLRC4	Single nucleotide variant	not provided	Gnot provided
Select item 102939	NM_001199138.1(NLRC4):c.-1874C>A	NLRC4	Single nucleotide variant	not provided	Gnot provided
Select item 102938	NM_001199138.1(NLRC4):c.-1330G>T	NLRC4	Single nucleotide variant	not provided	Gnot provided
Select item 102937	NM_001199138.1(NLRC4):c.-1155A>G	NLRC4	Single nucleotide variant	not provided	Gnot provided
Select item 102936	NM_001199138.2(NLRC4):c.2614+63A>G	NLRC4	Single nucleotide variant (intron variant)	not provided	Gnot provided

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Links from Gene

Items: 20