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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
REEP2
(R111*)
Single nucleotide variant
(nonsense +1 more)
Hereditary spastic paraplegia 72
GLikely pathogenic
REEP2
(R173* +1 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary spastic paraplegia 72
GLikely pathogenic