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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NCAPH2, SCO2
Single nucleotide variant
(3 prime UTR variant +1 more)
Fatal Infantile Cardioencephalomyopathy
+4 more
GConflicting classifications of pathogenicity
NCAPH2, SCO2
(P233A)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
LOC130067862, SCO2
+1 more
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TYMP, LOC130067862
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Fatal Infantile Cardioencephalomyopathy
+4 more
GBenign
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