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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FA2H, LOC130059394
Deletion
(inframe_deletion)
Hereditary spastic paraplegia 35
+2 more
GPathogenic
FA2H, LOC130059394
(D35Y)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 35
GConflicting classifications of pathogenicity