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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PARS2
(P364R)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
PARS2
(C292R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 75
+1 more
GUncertain significance
PARS2
(V95I)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 75
+1 more
GConflicting classifications of pathogenicity
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