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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FARS2, LOC126859565
(A154V)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation defect type 14
+1 more
GConflicting classifications of pathogenicity
FARS2, LOC126859565
(A166V)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 77
+2 more
GConflicting classifications of pathogenicity
FARS2, LOC126859565
(D169V)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation defect type 14
+1 more
GConflicting classifications of pathogenicity
FARS2, LOC126859565
(L172P)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation defect type 14
+1 more
GUncertain significance
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