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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SIRT2
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GBenign
SIRT2
(L307I +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GBenign
SIRT2
(A161T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
SIRT2
(R116H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
SIRT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SIRT2
(L44F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
ACP7, ACTN4
+53 more
Duplication
not provided
GUncertain significance
DPF1, ECH1
+34 more
Duplication
RYR1-related disorder
GUncertain significance
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