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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDUFV1
Single nucleotide variant
(synonymous variant)
Mitochondrial complex I deficiency, nuclear type 1
+3 more
GConflicting classifications of pathogenicity
NDUFV1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
NDUFV1
Single nucleotide variant
(synonymous variant)
Mitochondrial complex I deficiency, nuclear type 1
+3 more
GBenign
NDUFV1
(V224M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFV1
(P252fs +1 more)
Deletion
(frameshift variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NDUFV1
Single nucleotide variant
(synonymous variant)
Mitochondrial complex I deficiency, nuclear type 1
+3 more
GBenign
NDUFV1
(R359C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NDUFV1, LOC126861242
(M396I +1 more)
Single nucleotide variant
(missense variant)
Leigh syndrome
+3 more
GUncertain significance
LOC126861242, NDUFV1
(R392S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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