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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RNASEH2B
(E62K)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 2
GUncertain significance
RNASEH2B
(A177T)
Single nucleotide variant
(missense variant)
Abnormality of the nervous system
+6 more
GPathogenic/Likely pathogenic