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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLP1, RAB9B
(A17T)
Single nucleotide variant
(missense variant +1 more)
Pelizaeus-Merzbacher disease
+3 more
GUncertain significance
PLP1, RAB9B
(E177K +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic