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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
REEP1
(R113* +2 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary spastic paraplegia 31
+2 more
GPathogenic
REEP1
(L32H +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 31
GLikely pathogenic