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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARS2, POLR1C
(P303T)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy, progressive, with ovarian failure
GUncertain significance
POLR1C, AARS2
(Q261fs)
Deletion
(frameshift variant)
not provided
+1 more
GLikely pathogenic