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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDUFS2, LOC129931761
(P20T)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
NDUFS2
(P352A)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 6
+2 more
GBenign/Likely benign
NDUFS2
(H380D)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex I deficiency, nuclear type 1
+3 more
GConflicting classifications of pathogenicity
NDUFS2
(A426S)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
NDUFS2
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 6
+2 more
GBenign
NDUFS2
(H442Y)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 6
+2 more
GConflicting classifications of pathogenicity
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