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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SYNE2
(N2633S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
SYNE2
(D3131G)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GUncertain significance
SYNE2
(S4803fs)
Deletion
(frameshift variant)
Primary dilated cardiomyopathy
GUncertain significance
SYNE2
(E6487K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
SYNE2
(S6877F +3 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
GUncertain significance
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