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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLAA
(D284fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
GLikely pathogenic
PLAA
(T114A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance