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Items: 1 to 100 of 629

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NLRC4
(A1024T +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(V1022L +1 more)
Single nucleotide variant
(missense variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(L1021Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
NLRC4
(A1018G +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(A1018T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
NLRC4
(D1011E +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 4
+1 more
GLikely benign
NLRC4
(D1009G +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(D1009Y +1 more)
Single nucleotide variant
(missense variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+2 more
GUncertain significance
NLRC4
(L1002I +1 more)
Single nucleotide variant
(missense variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(L337F +1 more)
Single nucleotide variant
(missense variant)
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
(V990M +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(L322F +1 more)
Single nucleotide variant
(missense variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(K321R +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 4
+2 more
GConflicting classifications of pathogenicity
NLRC4
(V319A +1 more)
Single nucleotide variant
(missense variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(A317E +1 more)
Single nucleotide variant
(missense variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(A982G +1 more)
Single nucleotide variant
(missense variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+2 more
GLikely benign
NLRC4
(D980V +1 more)
Single nucleotide variant
(missense variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(D980H +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(E976G +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(K310N +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 4
+3 more
GUncertain significance
NLRC4
(K975R +1 more)
Single nucleotide variant
(missense variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(synonymous variant)
Autoinflammatory syndrome
+2 more
GLikely benign
NLRC4
(F305I +1 more)
Single nucleotide variant
(missense 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
(L302S +1 more)
Single nucleotide variant
(missense variant)
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
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 4
+2 more
GLikely benign
NLRC4
(F296S +1 more)
Single nucleotide variant
(missense variant)
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
(G294A +1 more)
Single nucleotide variant
(missense variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+2 more
GUncertain significance
NLRC4
(G959S +1 more)
Single nucleotide variant
(missense 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
(W289R +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
NLRC4
(V284L +1 more)
Single nucleotide variant
(missense variant)
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
(R948H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
NLRC4
(R283C +1 more)
Single nucleotide variant
(missense variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 4
+2 more
GConflicting classifications of pathogenicity
NLRC4
(L279V +1 more)
Single nucleotide variant
(missense variant)
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
(L277F +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(Q941R +1 more)
Single nucleotide variant
(missense variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(Q940* +1 more)
Single nucleotide variant
(nonsense)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(P270L +1 more)
Single nucleotide variant
(missense variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(N934K +1 more)
Single nucleotide variant
(missense variant)
Autoinflammatory syndrome
+2 more
GUncertain significance
NLRC4
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 4
+1 more
GLikely benign
NLRC4
(G267fs +1 more)
Duplication
(frameshift variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+2 more
GUncertain significance
NLRC4
(F265Y +1 more)
Single nucleotide variant
(missense variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(A929S +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign
NLRC4
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 4
+1 more
GLikely benign
NLRC4
Single nucleotide variant
(intron variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GLikely benign
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
Single nucleotide variant
(intron 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
(T257fs +1 more)
Deletion
(frameshift variant)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(L254H +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(W252C +1 more)
Single nucleotide variant
(missense variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(W917* +1 more)
Single nucleotide variant
(nonsense)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(synonymous variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+4 more
GBenign/Likely benign
NLRC4
Single nucleotide variant
(synonymous variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GLikely benign
NLRC4
(V910I +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
+3 more
GBenign/Likely benign
NLRC4
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 4
+1 more
GLikely benign
NLRC4
(V241I +1 more)
Single nucleotide variant
(missense variant)
Autoinflammatory syndrome
+3 more
GUncertain significance
NLRC4
Single nucleotide variant
(synonymous variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GLikely benign
NLRC4
(E240G +1 more)
Single nucleotide variant
(missense variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+2 more
GConflicting classifications of pathogenicity
NLRC4
(E240fs +1 more)
Deletion
(frameshift variant)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(E905K +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
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
(L231Q +1 more)
Single nucleotide variant
(missense variant)
Autoinflammatory syndrome
+2 more
GUncertain significance
NLRC4
(G229C +1 more)
Single nucleotide variant
(missense variant)
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
(D226del +1 more)
Deletion
(inframe_deletion)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(V892M +1 more)
Single nucleotide variant
(missense variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(D226A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
NLRC4
(C890Y +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(C890R +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
NLRC4
(G889S +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
NLRC4
(W223* +1 more)
Single nucleotide variant
(nonsense)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
(W223R +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 4
+2 more
GUncertain significance
NLRC4
Single nucleotide variant
(synonymous variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GLikely benign
NLRC4
(L221G +1 more)
Indel
(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
(A218T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
NLRC4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
NLRC4
Deletion
(inframe_deletion)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GUncertain significance
NLRC4
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 4
+1 more
GBenign
NLRC4
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 4
+2 more
GConflicting classifications of pathogenicity
NLRC4
(V212M +1 more)
Single nucleotide variant
(missense variant)
Autoinflammatory syndrome
+3 more
GConflicting classifications of pathogenicity
NLRC4
(N211K +1 more)
Single nucleotide variant
(missense variant)
Autoinflammatory syndrome
+2 more
GLikely benign
NLRC4
Single nucleotide variant
(synonymous variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+2 more
GBenign/Likely benign
NLRC4
(D208N +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
GUncertain significance
NLRC4
Single nucleotide variant
(synonymous variant)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
+1 more
GLikely benign
NLRC4
(I872N +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 4
+1 more
GUncertain significance
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