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Links from MedGen

Items: 1 to 100 of 213

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLCG2
(A21V)
Single nucleotide variant
(missense variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
GUncertain significance
PLCG2
(R582W)
Single nucleotide variant
(missense variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
GUncertain significance
PLCG2
(E898D)
Single nucleotide variant
(missense variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
GUncertain significance
PLCG2
(T49M)
Single nucleotide variant
(missense variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
+1 more
GUncertain significance
PLCG2
(I509V)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(L845S)
Single nucleotide variant
(missense variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
GLikely pathogenic
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(P1127A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PLCG2
Single nucleotide variant
(intron variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
+1 more
GLikely benign
PLCG2
Single nucleotide variant
(intron variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
+1 more
GLikely benign
PLCG2
Single nucleotide variant
(synonymous variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
+1 more
GLikely benign
PLCG2
Single nucleotide variant
(intron variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
+1 more
GLikely benign
PLCG2
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 3
+1 more
GLikely benign
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
+1 more
GLikely benign
PLCG2
Insertion
(intron variant)
Familial cold autoinflammatory syndrome 3
+1 more
GLikely benign
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
+1 more
GLikely benign
PLCG2
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 3
+1 more
GBenign/Likely benign
PLCG2
Single nucleotide variant
(intron variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
+1 more
GLikely benign
PLCG2
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 3
+1 more
GLikely benign
PLCG2
(T943S)
Single nucleotide variant
(missense variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
+1 more
GLikely benign
PLCG2
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 3
+1 more
GBenign/Likely benign
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
+1 more
GLikely benign
PLCG2
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 3
+1 more
GBenign/Likely benign
PLCG2
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 3
+1 more
GLikely benign
PLCG2
Single nucleotide variant
(intron variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
+1 more
GLikely benign
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
+1 more
GLikely benign
PLCG2
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 3
+1 more
GBenign/Likely benign
PLCG2
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 3
+1 more
GLikely benign
PLCG2
(T108M)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+2 more
GLikely benign
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
+1 more
GLikely benign
PLCG2
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(R1033C)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(L163F)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(I749V)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(A436T)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(R956H)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(V755I)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(T292M)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(V860I)
Single nucleotide variant
(missense variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
+1 more
GUncertain significance
PLCG2
(E474K)
Single nucleotide variant
(missense variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
+1 more
GUncertain significance
PLCG2
(R1228W)
Single nucleotide variant
(missense variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
+1 more
GUncertain significance
PLCG2
(Q1241*)
Single nucleotide variant
(nonsense)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
+1 more
GUncertain significance
PLCG2
(R582Q)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(N1260K)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(K1168N)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(D463N)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(K728N)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(A11V)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+2 more
GUncertain significance
PLCG2
(S162T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PLCG2
(D520G)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+2 more
GUncertain significance
PLCG2
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(M1141I)
Single nucleotide variant
(missense variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
+1 more
GUncertain significance
PLCG2
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(C409S)
Single nucleotide variant
(missense variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
GUncertain significance
PLCG2
Deletion
(intron variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
+2 more
GBenign
PLCG2
(H701R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PLCG2
(E619K)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+2 more
GConflicting classifications of pathogenicity
PLCG2
(A308T)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+2 more
GUncertain significance
PLCG2
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 3
+3 more
GBenign
PLCG2
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 3
+3 more
GBenign
PLCG2
(S707P)
Single nucleotide variant
(missense variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
GLikely pathogenic
PLCG2
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
PLCG2
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 3
+3 more
GBenign
PLCG2
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 3
+3 more
GBenign
PLCG2
(L22M)
Single nucleotide variant
(missense variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
GUncertain significance
PLCG2
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 3
+2 more
GBenign
PLCG2
Single nucleotide variant
(intron variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
+1 more
GBenign/Likely benign
PLCG2
Single nucleotide variant
(intron variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
+1 more
GBenign/Likely benign
PLCG2
(V1165I)
Single nucleotide variant
(missense variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
+2 more
GConflicting classifications of pathogenicity
PLCG2
(L795V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PLCG2
(S16R)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+2 more
GUncertain significance
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
+1 more
GLikely benign
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
+1 more
GLikely benign
PLCG2
Inversion
(intron variant)
Familial cold autoinflammatory syndrome 3
+1 more
GLikely benign
PLCG2
Single nucleotide variant
(intron variant)
PLCG2-related disorder
+2 more
GLikely benign
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
+1 more
GLikely benign
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
+1 more
GLikely benign
PLCG2
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 3
+1 more
GLikely benign
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
+1 more
GLikely benign
PLCG2
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 3
+1 more
GLikely benign
PLCG2
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 3
+1 more
GLikely benign
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
+1 more
GLikely benign
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
+1 more
GLikely benign
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
+1 more
GLikely benign
PLCG2
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 3
+1 more
GLikely benign
PLCG2
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 3
+1 more
GLikely benign
PLCG2
(R1033H)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(K867R)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(V227M)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(S300I)
Single nucleotide variant
(missense variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
GUncertain significance
PLCG2
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 3
+1 more
GConflicting classifications of pathogenicity
PLCG2
(R623L)
Single nucleotide variant
(missense variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
GUncertain significance
PLCG2
(W302C)
Single nucleotide variant
(missense variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
+1 more
GUncertain significance
PLCG2
(N1097D)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(L835I)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+2 more
GConflicting classifications of pathogenicity
PLCG2
(N1250K)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(M210L)
Single nucleotide variant
(missense variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
+2 more
GUncertain significance
PLCG2
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 3
+1 more
GConflicting classifications of pathogenicity
PLCG2
(S800C)
Single nucleotide variant
(missense variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
+1 more
GUncertain significance
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