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Items: 54

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLCG2
(V5F)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(V7E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLCG2
(A11V)
Single nucleotide variant
(missense variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
+3 more
GUncertain significance
PLCG2
(V30L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
PLCG2
(D66A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLCG2
(A85G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLCG2
(I98V)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(A112S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLCG2
(S124Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLCG2
(I141V)
Single nucleotide variant
(missense variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
+3 more
GConflicting classifications of pathogenicity
PLCG2
(S162T)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+2 more
GUncertain significance
PLCG2
(H252R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLCG2
(L262V)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+3 more
GUncertain significance
PLCG2
(R266H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLCG2
(M277V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLCG2
(A281T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLCG2
(F286L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLCG2
(S319C)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+2 more
GUncertain significance
PLCG2
(H320Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
+2 more
GBenign/Likely benign
PLCG2
(L331V)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(R337Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLCG2
(D362E)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(R376Q)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(P433A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLCG2
(S445T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLCG2
(Q511H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
PLCG2
(G529V)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+2 more
GUncertain significance
PLCG2
(H534Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLCG2
(M592R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLCG2
(L605V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLCG2
(R618L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLCG2
(S679C)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GConflicting classifications of pathogenicity
PLCG2
(R700Q)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+2 more
GUncertain significance
PLCG2
(E738K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLCG2
(M769T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLCG2
(G805V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLCG2
(A830T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLCG2
(F832L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLCG2
(P885L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLCG2
(R904Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLCG2
(S965N)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(P971L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
PLCG2
(F1028I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLCG2
(P1050L)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(I1080N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLCG2
(Y1094C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLCG2
(P1115S)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+2 more
GConflicting classifications of pathogenicity
PLCG2
(R1187Q)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(C1200Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLCG2
(R1201H)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(N1225I)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(V1237L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PLCG2
(R1254G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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