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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TARS2
(E34G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TARS2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TARS2
(L188I)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign/Likely benign
TARS2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
TARS2
(H345R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign/Likely benign
TARS2
(P387L +2 more)
Single nucleotide variant
(missense variant +1 more)
TARS2-related condition
+1 more
GLikely benign
TARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
TARS2
(R370W +2 more)
Single nucleotide variant
(missense variant +1 more)
Combined oxidative phosphorylation defect type 21
+1 more
GUncertain significance
TARS2
(V485I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
TARS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TARS2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TARS2
(A714T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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