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Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLCG2
(M28L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
+1 more
GLikely benign
PLCG2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
PLCG2
(I141V)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+3 more
GConflicting classifications of pathogenicity
PLCG2
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
PLCG2
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 3
+3 more
GBenign/Likely benign
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
GLikely benign
PLCG2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
PLCG2
(H244R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
PLCG2
(H257L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
+2 more
GBenign/Likely benign
PLCG2
(A308V)
Single nucleotide variant
(missense variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
+2 more
GConflicting classifications of pathogenicity
PLCG2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
PLCG2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
PLCG2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
PLCG2
(Q387P)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
GUncertain significance
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
+2 more
GBenign
PLCG2
(Y482H)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GConflicting classifications of pathogenicity
PLCG2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
PLCG2
(P522R)
Single nucleotide variant
(missense variant)
PLCG2-related disorder
+2 more
GBenign/Likely benign
PLCG2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
PLCG2
(N571S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
PLCG2
(T620M)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+2 more
GBenign/Likely benign
PLCG2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PLCG2
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
+2 more
GBenign/Likely benign
PLCG2
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 3
+3 more
GBenign/Likely benign
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
GBenign
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
GLikely benign
PLCG2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
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