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Items: 1 to 100 of 470

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130008916, LOC130008917
+4836 more
Copy number gain
See cases
GPathogenic
ANKRD52, APOF
+124 more
Duplication
not specified
GUncertain significance
IL23A, LOC132090128
+1 more
Single nucleotide variant
(synonymous variant)
not specified
GBenign
STAT2
Duplication
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
LOC130008075, STAT2
Duplication
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
(P841L +5 more)
Single nucleotide variant
(missense variant +1 more)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
(M833V +5 more)
Single nucleotide variant
(missense variant +1 more)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
(L813W +5 more)
Single nucleotide variant
(missense variant +1 more)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
Single nucleotide variant
(synonymous variant +1 more)
STAT2-related disorder
+1 more
GLikely benign
STAT2
(P812T +5 more)
Single nucleotide variant
(missense variant +1 more)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
(T809S +5 more)
Single nucleotide variant
(missense variant +1 more)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
(T838N +1 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
(R832H +1 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
(R832C +1 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
Single nucleotide variant
(synonymous variant +1 more)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
(V801I +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
STAT2
Single nucleotide variant
(synonymous variant +1 more)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
(E827K +1 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
(V822M +5 more)
Single nucleotide variant
(missense variant +1 more)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
(Q826H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
STAT2
(G821D +1 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
(G825C +1 more)
Indel
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GBenign
STAT2
(G825C +1 more)
Single nucleotide variant
(missense variant)
not specified
GBenign
STAT2
Single nucleotide variant
(synonymous variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
+1 more
GBenign
STAT2
Single nucleotide variant
(synonymous variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
(P813L +1 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
(M783L +5 more)
Single nucleotide variant
(missense variant +1 more)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
Single nucleotide variant
(synonymous variant +1 more)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
Single nucleotide variant
(intron variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
Single nucleotide variant
(intron variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
Single nucleotide variant
(synonymous variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
(C779G +5 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
Single nucleotide variant
(synonymous variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
(Q751H +5 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
+1 more
GUncertain significance
STAT2
(V749I +5 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
(Q746R +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
STAT2
(P775S +5 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
Single nucleotide variant
(synonymous variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
(L734V +5 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
Single nucleotide variant
(synonymous variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
(V729M +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
STAT2
Single nucleotide variant
(synonymous variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
(S757P +1 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
(E742fs +5 more)
Deletion
(frameshift variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GPathogenic
STAT2
Single nucleotide variant
(synonymous variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
Single nucleotide variant
(synonymous variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
Single nucleotide variant
(synonymous variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
(L714M +5 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
(D713H +5 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
Single nucleotide variant
(synonymous variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
(E705Q +5 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
Single nucleotide variant
(synonymous variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
(D703A +5 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
(L722fs +5 more)
Deletion
(frameshift variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GPathogenic
STAT2
(E699D +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
STAT2
(P698Q +5 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
(P731S +1 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
Single nucleotide variant
(synonymous variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
(G693R +5 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
Single nucleotide variant
(synonymous variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
Single nucleotide variant
(synonymous variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
Single nucleotide variant
(synonymous variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
Deletion
(inframe_deletion)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
Single nucleotide variant
(synonymous variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
+1 more
GLikely benign
STAT2
Single nucleotide variant
(synonymous variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
+1 more
GLikely benign
STAT2
(E691G +5 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
Single nucleotide variant
(synonymous variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
Single nucleotide variant
(intron variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
Single nucleotide variant
(intron variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
Single nucleotide variant
(intron variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
LOC130008075, STAT2
Duplication
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
Duplication
(intron variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
Single nucleotide variant
(intron variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
Single nucleotide variant
(intron variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
(N667S +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
STAT2
(H679Q +5 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
(R683Q +1 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
(R654W +5 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
(Q678K +5 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
(L680V +5 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
Single nucleotide variant
(intron variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
Single nucleotide variant
(intron variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
Single nucleotide variant
(intron variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
Single nucleotide variant
(intron variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
Single nucleotide variant
(intron variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
Single nucleotide variant
(intron variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
+1 more
GLikely benign
STAT2
Single nucleotide variant
(intron variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
(Q646R +5 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
(Y673C +1 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
Single nucleotide variant
(synonymous variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
(R637W +5 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
(I668M +1 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
+1 more
GUncertain significance
STAT2
(R663Q +1 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
+1 more
GUncertain significance
STAT2
(R667* +5 more)
Single nucleotide variant
(nonsense)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GPathogenic
STAT2
(R629H +5 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
(R629C +5 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
+1 more
GUncertain significance
STAT2
(P624R +5 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
(P643S +5 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
+1 more
GUncertain significance
STAT2
Single nucleotide variant
(synonymous variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GLikely benign
STAT2
(N648T +5 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
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