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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130068621, NDUFA1
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GBenign
LOC130068621, NDUFA1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
LOC130068621, NDUFA1
(G32R)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
NDUFA1
(Y43H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
NDUFA1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
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