U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NLRP12
(D1001E +2 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 2
+1 more
GUncertain significance
NLRP12
(E963K +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial cold autoinflammatory syndrome 2
+2 more
GConflicting classifications of pathogenicity
NLRP12
(D898Y +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 2
+1 more
GConflicting classifications of pathogenicity
NLRP12
(M803T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NLRP12
Duplication
(splice donor variant)
Autoinflammatory syndrome
+2 more
GConflicting classifications of pathogenicity
NLRP12
(Y618*)
Single nucleotide variant
(nonsense)
Familial cold autoinflammatory syndrome 2
+3 more
GUncertain significance
NLRP12
(D529E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
NLRP12
(I513fs)
Deletion
(frameshift variant)
Familial cold autoinflammatory syndrome 2
+1 more
GUncertain significance
NLRP12
(N394K)
Single nucleotide variant
(missense variant)
Autoinflammatory syndrome
+2 more
GConflicting classifications of pathogenicity
NLRP12
(H304Y)
Single nucleotide variant
(missense variant)
Autoinflammatory syndrome
+3 more
GConflicting classifications of pathogenicity
NLRP12
(R288H)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 2
+2 more
GUncertain significance
NLRP12
(T260M)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 2
+2 more
GConflicting classifications of pathogenicity
NLRP12
(G222D)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 2
+1 more
GUncertain significance
NLRP12
(T179I)
Single nucleotide variant
(missense variant)
Autoinflammatory syndrome
+2 more
GUncertain significance
NLRP12
(Y132C)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 2
+2 more
GUncertain significance
NLRP12
(G52S)
Single nucleotide variant
(missense variant)
Autoinflammatory syndrome
+2 more
GUncertain significance
NLRP12
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
Format
Items per page
Sort by
Choose Destination