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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLP1, RAB9B
(Y27C +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
GUncertain significance
PLP1, RAB9B
Single nucleotide variant
(synonymous variant +1 more)
Pelizaeus-Merzbacher disease
+1 more
GConflicting classifications of pathogenicity
PLP1, RAB9B
(H148Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia
+2 more
GPathogenic/Likely pathogenic
RAB9B, PLP1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GBenign
PLP1, RAB9B
(L200F +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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