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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLP1, RAB9B
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 2
+1 more
GPathogenic
PLP1, RAB9B
(W128R +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PLP1, RAB9B
(C201F +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLP1, RAB9B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GBenign
RAB9B, PLP1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PLP1, RAB9B
(P181S +2 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PLP1, RAB9B
(C228Y +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PLP1, RAB9B
(F240L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLP1, RAB9B
(G246A +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PLP1, RAB9B
(A247T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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