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Links from MedGen

Items: 1 to 100 of 504

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NLRC4
(T280I)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
GUncertain significance
NLRC4
(V341L)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
GPathogenic
NLRC4
Deletion
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(synonymous variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GLikely benign
NLRC4
(F441L)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(intron variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GLikely benign
NLRC4
(R288W)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(Y585F)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(N111D +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(synonymous variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GLikely benign
NLRC4
Single nucleotide variant
(synonymous variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GLikely benign
NLRC4
(G959S +1 more)
Single nucleotide variant
(missense variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(K674T)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(synonymous variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GLikely benign
NLRC4
(A307V)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(synonymous variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GLikely benign
NLRC4
(P437T)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(L108F)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(L247P)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(E465D)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 4
+1 more
GLikely benign
NLRC4
(V478L)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(G618R)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(I612T)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(intron variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GLikely benign
NLRC4
Single nucleotide variant
(synonymous variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GLikely benign
NLRC4
(F81L)
Single nucleotide variant
(missense variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(L1002I +1 more)
Single nucleotide variant
(missense variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(I227V)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(M621V)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(T278I)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(S489I)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(Y487C)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(intron variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GLikely benign
NLRC4
Single nucleotide variant
(synonymous variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GLikely benign
NLRC4
Single nucleotide variant
(synonymous variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GLikely benign
NLRC4
(L571V)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(intron variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GLikely benign
NLRC4
Single nucleotide variant
(synonymous variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GLikely benign
NLRC4
(G632fs)
Deletion
(frameshift variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(D419A)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(I586T)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(intron variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 4
+1 more
GLikely benign
NLRC4
(R181fs)
Deletion
(frameshift variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(I343V)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(intron variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GLikely benign
NLRC4
(R181P)
Indel
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(V555A)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(N748K)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(R240Q)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(A627T)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(E262K)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
Duplication
(inframe_insertion +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(synonymous variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GLikely benign
NLRC4
(T424P)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(M235I)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(synonymous variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GLikely benign
NLRC4
(Q411P)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(splice acceptor variant)
Familial cold autoinflammatory syndrome 4
+1 more
GLikely benign
NLRC4
(L680V)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(R148C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
NLRC4
(L455R)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(G294D +1 more)
Single nucleotide variant
(missense variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(R454*)
Single nucleotide variant
(nonsense +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(synonymous variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GLikely benign
NLRC4
(Y679*)
Single nucleotide variant
(nonsense +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(E399K)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 4
+1 more
GLikely benign
NLRC4
(F305I +1 more)
Single nucleotide variant
(missense variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(H378R)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(synonymous variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GLikely benign
NLRC4
(T365N)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(synonymous variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GLikely benign
NLRC4
(Q580P)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(Q893R +1 more)
Single nucleotide variant
(missense variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(S567P)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(L212V)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(synonymous variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GLikely benign
NLRC4
Single nucleotide variant
(intron variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GLikely benign
NLRC4
Single nucleotide variant
(synonymous variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GLikely benign
NLRC4
Single nucleotide variant
(synonymous variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GLikely benign
NLRC4
(G520R)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(L741S)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(S456N)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(A169V +1 more)
Single nucleotide variant
(missense variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(synonymous variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GLikely benign
NLRC4
(P270L +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(D125G)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(D99E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
NLRC4
(R647S)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(K192N)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 4
+1 more
GLikely benign
NLRC4
Single nucleotide variant
(synonymous variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GLikely benign
NLRC4
Single nucleotide variant
(synonymous variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GLikely benign
NLRC4
Single nucleotide variant
(synonymous variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GLikely benign
NLRC4
(G632S)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(L205I)
Indel
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(S817N +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(synonymous variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GLikely benign
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