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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
REEP2
Single nucleotide variant
(intron variant)
Spastic paraplegia 72b, autosomal recessive
GPathogenic
REEP2
(V36E)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 72
GPathogenic
REEP2
(M40R)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 72
GPathogenic
REEP2
(F72Y)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia 72b, autosomal recessive
GPathogenic
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