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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLP1, RAB9B
(I47T)
Single nucleotide variant
(missense variant +1 more)
Pelizaeus-Merzbacher disease
+1 more
GLikely pathogenic
PLP1, RAB9B
(W126C +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GUncertain significance