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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDUFAF5
(F147L)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
NDUFAF5
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
NDUFAF5
(P214L +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
NDUFAF5
Single nucleotide variant
(splice acceptor variant)
Mitochondrial complex 1 deficiency, nuclear type 16
+1 more
GConflicting classifications of pathogenicity
NDUFAF5
(Q259* +3 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
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