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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RNASEH2C
Single nucleotide variant
(3 prime UTR variant)
Aicardi-Goutieres syndrome 3
GUncertain significance
RNASEH2C
(W150C)
Single nucleotide variant
(missense variant)
Aicardi-Goutieres syndrome 3
GLikely pathogenic