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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C12orf57, RNU7-1
Single nucleotide variant
(non-coding transcript variant +1 more)
Aicardi-Goutieres syndrome 9
GUncertain significance
C12orf57, RNU7-1
Single nucleotide variant
(non-coding transcript variant +1 more)
Aicardi-Goutieres syndrome 9
+1 more
GPathogenic/Likely pathogenic