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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STAT2
Single nucleotide variant
(intron variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
(N350S +1 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
(R341K +1 more)
Single nucleotide variant
(missense variant)
Pseudo-TORCH syndrome 3
GUncertain significance
STAT2
Single nucleotide variant
(synonymous variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GConflicting classifications of pathogenicity
STAT2
(Q270* +1 more)
Single nucleotide variant
(nonsense)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GPathogenic
STAT2
(L111F +1 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
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