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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDUFS2
(Y282C)
Single nucleotide variant
(missense variant +1 more)
Leber-like hereditary optic neuropathy, autosomal recessive 2
GPathogenic
NDUFS2
(A369T)
Single nucleotide variant
(missense variant)
Leber-like hereditary optic neuropathy, autosomal recessive 2
+2 more
GUncertain significance
NDUFS2
(I113V)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
NDUFS2
(Y53C)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
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