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Items: 1 to 100 of 247

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NLRP2
(S3F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NLRP2
(S4L)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
NLRP2
(A5V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
NLRP2-related disorder
GBenign
NLRP2
(S24R)
Single nucleotide variant
(missense variant +1 more)
NLRP2-related disorder
GBenign
NLRP2
(T31M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NLRP2
(H37Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NLRP2
(E38K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NLRP2
(V47A)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
NLRP2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
NLRP2-related disorder
GLikely benign
NLRP2
(H80P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
Gnot provided
NLRP2
(H80Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NLRP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NLRP2
Single nucleotide variant
(intron variant)
not provided
Gnot provided
NLRP2
Single nucleotide variant
(intron variant)
not provided
Gnot provided
NLRP2
Single nucleotide variant
(intron variant)
not provided
Gnot provided
NLRP2
Single nucleotide variant
(intron variant)
not provided
Gnot provided
NLRP2
Single nucleotide variant
(intron variant)
not provided
Gnot provided
NLRP2
Single nucleotide variant
(intron variant)
not provided
Gnot provided
NLRP2
(R89Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NLRP2
(V120M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NLRP2
(D121E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
NLRP2
(R126C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NLRP2
(R103H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
NLRP2
(Q109L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
NLRP2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
NLRP2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
NLRP2
(G139E +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
NLRP2
(K133fs +3 more)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
NLRP2
(R159K +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
NLRP2
(R139K +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NLRP2
(F145L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NLRP2
(G155V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
NLRP2-related disorder
GLikely benign
NLRP2
(I170S +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
NLRP2-related disorder
GLikely benign
NLRP2
(P181fs +3 more)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
NLRP2-related disorder
GLikely benign
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
NLRP2-related disorder
GLikely benign
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
NLRP2-related disorder
GLikely benign
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NLRP2
(Y189fs +3 more)
Duplication
(frameshift variant +1 more)
Multisystem inflammatory syndrome in children
Grisk factor
NLRP2
(T198M +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
NLRP2
(D226Y +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NLRP2
(A231S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NLRP2
(F220L +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NLRP2
(P252R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
NLRP2-related disorder
GLikely benign
NLRP2
(F235S +2 more)
Single nucleotide variant
(missense variant +1 more)
Oocyte/zygote/embryo maturation arrest 18
GPathogenic
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
NLRP2-related disorder
GBenign
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
NLRP2-related disorder
GLikely benign
NLRP2
(D248N +3 more)
Single nucleotide variant
(missense variant +1 more)
NLRP2-related disorder
GLikely benign
NLRP2
(A256V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
NLRP2-related disorder
GLikely benign
NLRP2
(A277V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
NLRP2-related disorder
GLikely benign
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
NLRP2-related disorder
GLikely benign
NLRP2
(E279Q +3 more)
Single nucleotide variant
(missense variant +1 more)
NLRP2-related disorder
GLikely benign
NLRP2
(P313T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
NLRP2-related disorder
GLikely benign
NLRP2
(V294I +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
NLRP2-related disorder
GLikely benign
NLRP2
(M303L +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
NLRP2-related disorder
GLikely benign
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
NLRP2-related disorder
GLikely benign
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
NLRP2-related disorder
GLikely benign
NLRP2
(T313A +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NLRP2
(R314Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
NLRP2
(P315S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
NLRP2-related disorder
GLikely benign
NLRP2
(E326* +3 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
NLRP2
(E326Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
NLRP2
(E327Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
not provided
Gnot provided
NLRP2
(I329S +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
NLRP2
(I331V +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
NLRP2-related disorder
GLikely benign
NLRP2
(F336L +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
NLRP2-related disorder
GLikely benign
NLRP2
(R341K +3 more)
Single nucleotide variant
(missense variant +1 more)
NLRP2-related disorder
GLikely benign
NLRP2
(Y344C +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NLRP2
(H368P +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NLRP2
(F349S +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
NLRP2-related disorder
GBenign
NLRP2
(E352A +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NLRP2
(R357C +3 more)
Single nucleotide variant
(missense variant +1 more)
NLRP2-related disorder
GBenign
NLRP2
(A366V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
NLRP2-related disorder
GLikely benign
NLRP2
(T383R +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign/Likely benign
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NLRP2
(T404I +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NLRP2
(K406R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NLRP2
(G415R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NLRP2
Single nucleotide variant
(synonymous variant +1 more)
NLRP2-related disorder
GLikely benign
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