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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARS2, POLR1C
(T910fs)
Deletion
(frameshift variant)
not provided
GConflicting classifications of pathogenicity
AARS2, POLR1C
(R722Q)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 8
+1 more
GUncertain significance
AARS2, POLR1C
(V507L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLR1C, AARS2
(G254A)
Single nucleotide variant
(missense variant)
AARS2-related condition
+2 more
GConflicting classifications of pathogenicity
AARS2, POLR1C
(C218fs)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic
AARS2, POLR1C
(R199C)
Single nucleotide variant
(missense variant)
Generalized muscle weakness
+4 more
GPathogenic/Likely pathogenic
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