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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931761, NDUFS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
NDUFS2, LOC129931761
(P20T)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
LOC129931761, NDUFS2
(P20L)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 6
+1 more
GUncertain significance
LOC129931761, NDUFS2
Single nucleotide variant
(intron variant)
Mitochondrial complex 1 deficiency, nuclear type 6
+2 more
GBenign/Likely benign
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