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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STAT2
(R341K +1 more)
Single nucleotide variant
(missense variant)
Pseudo-TORCH syndrome 3
GUncertain significance
STAT2
(R148W +1 more)
Single nucleotide variant
(missense variant)
Pseudo-TORCH syndrome 3
GPathogenic
STAT2
(R148Q +1 more)
Single nucleotide variant
(missense variant)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
GUncertain significance
STAT2
(R663Q +1 more)
Single nucleotide variant
(missense variant)
Pseudo-TORCH syndrome 3
+1 more
GUncertain significance
STAT2
(S12G)
Single nucleotide variant
(missense variant)
Pseudo-TORCH syndrome 3
+2 more
GUncertain significance
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