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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLP1, RAB9B
(M206R +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
GLikely pathogenic
PLP1, RAB9B
(C220G +2 more)
Single nucleotide variant
(missense variant)
Pelizaeus-Merzbacher disease
+1 more
GLikely pathogenic