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Links from Gene

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTN2
(K351N)
Single nucleotide variant
(missense variant +1 more)
Myopathy, congenital, with structured cores and z-line abnormalities
GBenign
ACTN2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ACTN2
(F345fs)
Deletion
(frameshift variant +1 more)
Dilated cardiomyopathy 1AA
GUncertain significance
ACTN2
(D206N)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1AA
GUncertain significance
ACTN2
(I301N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTN2
(D241N)
Single nucleotide variant
(missense variant +2 more)
Dilated cardiomyopathy 1AA
+3 more
GUncertain significance
ACTN2
(F406V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTN2
(V582A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTN2
(R779K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTN2
(R721L +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1AA
GUncertain significance
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