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Links from MedGen

Items: 1 to 100 of 636

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
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
NLRC4
(N604K)
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
(L323F)
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
(R283C +1 more)
Single nucleotide variant
(missense 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
(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
(L302S +1 more)
Single nucleotide variant
(missense 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
(D593N)
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)
Familial cold autoinflammatory syndrome 4
+1 more
GLikely benign
NLRC4
(L277F +1 more)
Single nucleotide variant
(missense variant)
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
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 4
+1 more
GLikely benign
NLRC4
(S113P)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(L221G +1 more)
Indel
(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
(C43Y)
Single nucleotide variant
(missense variant)
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
(D419E)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
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