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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARS1
(F958S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 29
GLikely pathogenic
AARS1
(R633fs)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 29
GLikely pathogenic
AARS1
(F110L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
AARS1
(S29F)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 29
GUncertain significance
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