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Items: 4

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
RAB9B, PLP1
(A84S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLP1, RAB9B
(R124W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PLP1, RAB9B
(V190L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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