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Links from Gene

Items: 1 to 100 of 790

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NLRC4
(E282G)
Single nucleotide variant
(missense variant +1 more)
NLRC4-related disorder
GUncertain significance
NLRC4
Single nucleotide variant
(3 prime UTR variant)
not specified
GUncertain significance
NLRC4
(T725P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NLRC4
(V38G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NLRC4
(A50S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NLRC4
(I124N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NLRC4
(R332G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NLRC4
(V284A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC30A6, NLRC4
+1 more
Deletion
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
Deletion
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(H404Q)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
GUncertain significance
NLRC4
(F199L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
NLRC4
(L221R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NLRC4
(L886V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NLRC4
(V212L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NLRC4
(A169E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NLRC4
(G760C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NLRC4
(S481L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NLRC4
(G425R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ABHD1, ACP1
+182 more
Copy number gain
See cases
GPathogenic
NLRC4
(D597G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGEF33, ATL2
+52 more
Copy number loss
not specified
GPathogenic
BIRC6, FAM98A
+6 more
Copy number loss
not specified
GUncertain significance
NLRC4
(L318F +1 more)
Single nucleotide variant
(missense variant)
NLRC4-related disorder
GUncertain significance
NLRC4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NLRC4
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 4
+1 more
GLikely benign
NLRC4
(K315M)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(G172D)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(G249S)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(T344I)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(D482H)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(T111S)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(T661I)
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
(K106N)
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
(K525N)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(S709N)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(A202V +1 more)
Single nucleotide variant
(missense variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(L254H +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(T642N)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(M349I)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(P645S)
Single nucleotide variant
(missense variant +1 more)
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
(K444R)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(L203H)
Single nucleotide variant
(missense variant +1 more)
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
(L651S)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(S356F)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(C890Y +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(I872N +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 4
+1 more
GLikely benign
NLRC4
(T18A)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(N273Y)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(H515Y)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(L98V)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(D208N +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
(G632D)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(synonymous variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(A1024T +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(L203F +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(L89fs)
Deletion
(frameshift variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GLikely benign
NLRC4
(S163R)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(M105R +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(M110I +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(D226A +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(N587fs)
Insertion
(frameshift variant +1 more)
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
(K190R)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(A784G +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(G702E)
Single nucleotide variant
(missense variant +1 more)
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
(L704P)
Single nucleotide variant
(missense variant +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
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
(S415T)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(L521F)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(L244I)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(Q144E)
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
Single nucleotide variant
(synonymous variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GLikely benign
NLRC4
(D980V +1 more)
Single nucleotide variant
(missense variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(D391N)
Single nucleotide variant
(missense variant +1 more)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(H462Y)
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
(S569L)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(L122V +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(Y679H)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(D1009G +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(T257fs +1 more)
Deletion
(frameshift variant)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(E542G)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 4
+1 more
GLikely benign
NLRC4
(G298E)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 4
+1 more
GLikely benign
NLRC4
(E418K)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(N278S +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(V537A)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 4
+1 more
GLikely benign
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