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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NARS2
(R208C +1 more)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 24
GUncertain significance
NARS2
(T283A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
NARS2
(A282T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NARS2
(P214T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
NARS2
Insertion
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
NARS2
(R146G)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
LOC130006508, NARS2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 24
GUncertain significance
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