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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TARS2
(R246W)
Single nucleotide variant
(missense variant +2 more)
Combined oxidative phosphorylation defect type 21
+1 more
GUncertain significance
TARS2
(S258L)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TARS2
(E296G)
Single nucleotide variant
(missense variant +2 more)
Combined oxidative phosphorylation defect type 21
GUncertain significance
TARS2
(A273T +2 more)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation defect type 21
GUncertain significance
TARS2
(R370W +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
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