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Items: 12

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
FARS2
(S301L +1 more)
Single nucleotide variant
(missense variant +1 more)
FARS2-related disorder
+1 more
GUncertain significance
FARS2
(Y324C +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FARS2
(R286S +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 14
GUncertain significance
FARS2
(E103V +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 77
GUncertain significance
FARS2
(K353Q +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 14
+2 more
GConflicting classifications of pathogenicity
FARS2
(P361L +2 more)
Single nucleotide variant
(missense variant)
See cases
+4 more
GPathogenic/Likely pathogenic
FARS2
(R423Q +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
FARS2
(G217R +2 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 14
GUncertain significance
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