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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FA2H, LOC130059393
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
FA2H, LOC130059393
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
FA2H, LOC130059393
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
FA2H, LOC130059393
(Q90E)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
FA2H, LOC130059393
(Q89*)
Single nucleotide variant
(nonsense)
Spastic paraplegia
GPathogenic
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