"PreventionGenetics, part of Exact Sciences"[submitter] AND "NLRC4"[ge - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061059	NM_001199138.2(NLRC4):c.2949A>C (p.Leu983Phe)	NLRC4 (L318F +1 more)	Single nucleotide variant (missense variant)	NLRC4-related disorder	GUncertain significance
Select item 542046	NM_001199138.2(NLRC4):c.2945C>G (p.Ala982Gly)	NLRC4 (A982G +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +3 more	GLikely benign
Select item 475254	NM_001199138.2(NLRC4):c.2785G>T (p.Ala929Ser)	NLRC4 (A929S +1 more)	Single nucleotide variant (missense variant)	NLRC4-related disorder +5 more	GBenign
Select item 1304100	NM_001199138.2(NLRC4):c.2662T>C (p.Trp888Arg)	NLRC4 (W223R +1 more)	Single nucleotide variant (missense variant)	NLRC4-related disorder +3 more	GUncertain significance
Select item 748242	NM_001199138.2(NLRC4):c.2631G>A (p.Val877=)	NLRC4	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 4 +3 more	GConflicting classifications of pathogenicity
Select item 475252	NM_001199138.2(NLRC4):c.2357G>T (p.Gly786Val)	NLRC4 (G786V +1 more)	Single nucleotide variant (missense variant)	NLRC4-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 2635359	NM_001199138.2(NLRC4):c.2000G>A (p.Arg667Gln)	NLRC4 (R667Q)	Single nucleotide variant (missense variant +1 more)	NLRC4-related disorder	GUncertain significance
Select item 2628951	NM_001199138.2(NLRC4):c.1902C>G (p.Ile634Met)	NLRC4 (I634M)	Single nucleotide variant (missense variant +1 more)	NLRC4-related disorder	GUncertain significance
Select item 1601178	NM_001199138.2(NLRC4):c.1740A>G (p.Gln580=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +2 more	GBenign/Likely benign
Select item 542051	NM_001199138.2(NLRC4):c.1683A>G (p.Leu561=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +4 more	GBenign/Likely benign
Select item 841351	NM_001199138.2(NLRC4):c.1304T>A (p.Phe435Tyr)	NLRC4 (F435Y)	Single nucleotide variant (missense variant +1 more)	NLRC4-related disorder +2 more	GUncertain significance
Select item 721224	NM_001199138.2(NLRC4):c.1083G>A (p.Thr361=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	NLRC4-related disorder +3 more	GBenign/Likely benign
Select item 720748	NM_001199138.2(NLRC4):c.912C>T (p.Ser304=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	NLRC4-related disorder +2 more	GLikely benign
Select item 1011547	NM_001199138.2(NLRC4):c.598G>A (p.Val200Ile)	NLRC4 (V200I)	Single nucleotide variant (missense variant +1 more)	NLRC4-related disorder +2 more	GUncertain significance
Select item 1142297	NM_001199138.2(NLRC4):c.480T>C (p.Ala160=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +3 more	GLikely benign
Select item 103084	NM_001199138.2(NLRC4):c.297C>T (p.Asp99=)	NLRC4	Single nucleotide variant (synonymous variant +1 more)	Familial cold autoinflammatory syndrome 4 +2 more	GLikely benign
Select item 859279	NM_001199138.2(NLRC4):c.286G>C (p.Gly96Arg)	NLRC4 (G96R)	Single nucleotide variant (missense variant +1 more)	NLRC4-related disorder +2 more	GUncertain significance
Select item 1087800	NM_001199138.2(NLRC4):c.208C>T (p.Leu70Phe)	NLRC4 (L70F)	Single nucleotide variant (missense variant)	NLRC4-related disorder +2 more	GLikely benign
Select item 951848	NM_001199138.2(NLRC4):c.129C>T (p.Cys43=)	NLRC4	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1052924	NM_001199138.2(NLRC4):c.88del (p.Trp30fs)	NLRC4 (W30fs)	Deletion (frameshift variant)	NLRC4-related disorder +2 more	GConflicting classifications of pathogenicity

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Items: 20