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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FA2H
(D312Y)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 35
GLikely pathogenic
FA2H
(G304S)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 35
GLikely pathogenic