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Items: 76

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130064925, LOC130064926
+1081 more
Copy number gain
See cases
GPathogenic
LOC130064903, LOC130064904
+1093 more
Copy number gain
See cases
GPathogenic
ADM5, BCL2L12
+17 more
Copy number gain
See cases
GBenign
IRF3
(V446I)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IRF3
(P444A)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IRF3
(E432D +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GBenign
IRF3
(E280K +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IRF3
(R411*)
Single nucleotide variant
(nonsense +2 more)
IRF3-related disorder
GLikely benign
IRF3
(H409Y)
Single nucleotide variant
(missense variant +2 more)
IRF3-related disorder
GBenign
IRF3
(L255V +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IRF3
(H359R +4 more)
Single nucleotide variant
(synonymous variant +2 more)
not specified
GLikely benign
IRF3
(G109E +4 more)
Single nucleotide variant
(synonymous variant +2 more)
not specified
GLikely benign
IRF3
(R234Q +4 more)
Single nucleotide variant
(synonymous variant +2 more)
not specified
GLikely benign
IRF3
(P385A)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IRF3
(V236L +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IRF3
(P211L +4 more)
Single nucleotide variant
(synonymous variant +2 more)
Multisystem inflammatory syndrome in children
Grisk factor
IRF3
(P361L +5 more)
Single nucleotide variant
(missense variant +2 more)
IRF3-related disorder
GUncertain significance
IRF3
(D320N +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IRF3
(S212L +4 more)
Single nucleotide variant
(synonymous variant +2 more)
not specified
GLikely benign
IRF3
(G189E +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IRF3
(G339R)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
IRF3
(P178L +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IRF3
(L176P +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IRF3
(D321E +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IRF3
(V284M +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IRF3
(K280N +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IRF3
(H159Q +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IRF3
Single nucleotide variant
(synonymous variant +2 more)
IRF3-related disorder
GLikely benign
IRF3
(T256I +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IRF3
(R285Q +2 more)
Single nucleotide variant
(missense variant +2 more)
IRF3-related disorder
+1 more
GUncertain significance; risk factor
IRF3
Single nucleotide variant
(synonymous variant +2 more)
IRF3-related disorder
GLikely benign
IRF3
(A277T +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
IRF3
(R130Q +2 more)
Single nucleotide variant
(missense variant +2 more)
IRF3-related disorder
GLikely benign
IRF3
(V115M +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IRF3
(R201S +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IRF3
(E232K +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IRF3
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
IRF3
Single nucleotide variant
(synonymous variant +2 more)
IRF3-related disorder
GLikely benign
IRF3
(P223L +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IRF3
(I220T +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IRF3
(R213C +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IRF3
(G199A +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IRF3
(P163L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IRF3
(E154K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IRF3
(P181L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IRF3
(N178S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
IRF3
(S140G +2 more)
Single nucleotide variant
(missense variant +1 more)
IRF3-related disorder
GBenign
IRF3
(A163S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IRF3
(P118A +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IRF3
(P151S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IRF3
(N111K +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
IRF3
Single nucleotide variant
(synonymous variant +2 more)
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7
+1 more
GBenign/Likely benign
IRF3
(T132S +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IRF3
(N127S +1 more)
Single nucleotide variant
(missense variant +2 more)
IRF3-related disorder
GLikely benign
IRF3
Single nucleotide variant
(synonymous variant +2 more)
not provided
GUncertain significance
IRF3
(I106V +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GLikely benign
IRF3
(D102N +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
IRF3
(S97R +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
IRF3
(R61Q +1 more)
Single nucleotide variant
(missense variant +3 more)
not provided
GBenign
IRF3
(R96W +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
IRF3
Single nucleotide variant
(intron variant)
not specified
GBenign
IRF3
(D45N)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IRF3
(N28K)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IRF3
Single nucleotide variant
(synonymous variant +2 more)
not specified
GLikely benign
ADM5, AKT1S1
+35 more
Duplication
Developmental and epileptic encephalopathy, 12
GUncertain significance
ACP4, ADM5
+118 more
Copy number gain
not specified
GLikely pathogenic
ACP4, ADM5
+261 more
Copy number gain
not provided
GLikely pathogenic
FPR3, ZNF577
+115 more
Copy number gain
not specified
GLikely pathogenic
ADM5, ALDH16A1
+45 more
Duplication
Developmental and epileptic encephalopathy, 12
GUncertain significance
IRF3, NOSIP
+4 more
Copy number loss
See cases
GLikely pathogenic
PPP1R15A, PPP2R1A
+308 more
Copy number gain
not provided
GPathogenic
GRIN2D, GRWD1
+228 more
Copy number gain
not provided
Gnot provided
C5AR1, C5AR2
+293 more
Copy number gain
not provided
GPathogenic
C19orf81, CD37
+66 more
Copy number gain
not provided
GUncertain significance
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
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