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Items: 1 to 100 of 1444

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130059466, LOC130059467
+1738 more
Copy number gain
See cases
GPathogenic
LOC128772417, LOC128772418
+939 more
Copy number gain
See cases
GPathogenic
ACD, ACSF3
+1429 more
Copy number gain
See cases
GPathogenic
LOC130059153, LOC130059154
+1426 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+1424 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+869 more
Copy number gain
See cases
GPathogenic
AARS1, ADAMTS18
+572 more
Copy number gain
See cases
GPathogenic
LOC100129617, LOC100506281
+591 more
Copy number loss
See cases
GPathogenic
HSBP1, HSD17B2
+1041 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+1031 more
Copy number gain
See cases
GPathogenic
ADAMTS18, ADAT1
+360 more
Copy number loss
See cases
GPathogenic
LOC400553, LOC654780
+832 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+788 more
Copy number gain
See cases
GPathogenic
LINC01081, LINC01082
+781 more
Copy number gain
See cases
GPathogenic
ADAD2, ARLNC1
+447 more
Copy number loss
See cases
GPathogenic
ARLNC1, ATMIN
+162 more
Copy number loss
See cases
GPathogenic
ACSF3, ADAD2
+719 more
Copy number gain
See cases
GPathogenic
ARLNC1, ATMIN
+162 more
Copy number loss
CMIP-related neurodevelopmental disorder
GLikely pathogenic
ACSF3, ADAD2
+691 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+677 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+670 more
Copy number gain
See cases
GPathogenic
LINC02176, LOC101928392
+211 more
Copy number loss
See cases
GPathogenic
PLCG2
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
PLCG2
(T4M)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
GLikely benign
PLCG2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
GLikely benign
PLCG2
(V5F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLCG2
(N6S)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
GUncertain significance
PLCG2
(D8V)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
GUncertain significance
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
GLikely benign
PLCG2
(A11E)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
GUncertain significance
PLCG2
(A11V)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
GLikely benign
PLCG2
(S16G)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
GUncertain significance
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
GLikely benign
PLCG2
(S16R)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+2 more
GUncertain significance
PLCG2
(Q17R)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
GUncertain significance
PLCG2
(Q17L)
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/Likely benign
PLCG2
(R20K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLCG2
(A21S)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
GUncertain significance
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
GLikely benign
PLCG2
(L22M)
Single nucleotide variant
(missense variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
GUncertain significance
PLCG2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
GLikely benign
PLCG2
(T26M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
GLikely benign
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
GLikely benign
PLCG2
(M28L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
PLCG2
(V30L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
GLikely benign
PLCG2
(S32R)
Single nucleotide variant
(missense variant)
PLCG2-related condition
GUncertain significance
PLCG2
(S32N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLCG2
(F33L)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GConflicting classifications of pathogenicity
PLCG2
(R34H)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
GUncertain significance
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
GLikely benign
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
GLikely benign
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
(T37N)
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
GLikely benign
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
GLikely benign
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
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
GLikely benign
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
GLikely benign
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
GLikely benign
PLCG2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PLCG2
(V43I)
Single nucleotide variant
(missense variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
+1 more
GUncertain significance
PLCG2
(V43F)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
GUncertain significance
PLCG2
(V45L)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
GUncertain significance
PLCG2
(V45M)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
GUncertain significance
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
GLikely benign
PLCG2
(T49M)
Single nucleotide variant
(missense variant)
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
GUncertain significance
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
+1 more
GLikely benign
PLCG2
(R50Q)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
GUncertain significance
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
GLikely benign
PLCG2
(Q51H)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
GUncertain significance
PLCG2
(A53T)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
+1 more
GUncertain significance
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
GLikely benign
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
+3 more
GLikely benign
PLCG2
(A58V)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
GUncertain significance
PLCG2
(D59N)
Inversion
(missense variant)
Familial cold autoinflammatory syndrome 3
GUncertain significance
PLCG2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
PLCG2
(I61M)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 3
GUncertain significance
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
GLikely benign
PLCG2
Single nucleotide variant
(synonymous variant)
Familial cold autoinflammatory syndrome 3
+1 more
GLikely benign
PLCG2
Deletion
(intron variant)
Familial cold autoinflammatory syndrome 3
GLikely benign
PLCG2
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 3
GLikely benign
PLCG2
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 3
GLikely benign
PLCG2
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
PLCG2
Single nucleotide variant
(intron variant)
not provided
GBenign
PLCG2
Single nucleotide variant
(intron variant)
not provided
GBenign
PLCG2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PLCG2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PLCG2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PLCG2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PLCG2
Deletion
Familial cold autoinflammatory syndrome 3
GUncertain significance
PLCG2
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 3
GLikely benign
PLCG2
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 3
GLikely benign
PLCG2
Single nucleotide variant
(intron variant)
Familial cold autoinflammatory syndrome 3
GLikely benign
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