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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FXN, LOC130001862
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
FXN, LOC130001862
(L12V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FXN, LOC130001862
Single nucleotide variant
(synonymous variant)
Friedreich ataxia 1
+3 more
GBenign
FXN, LOC130001862
(R40C)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
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