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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTN2
(G111R)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1AA
+4 more
GConflicting classifications of pathogenicity
ACTN2
(L186F)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
ACTN2
(R119P +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACTN2
(L102Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ACTN2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ACTN2
(R482W +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1AA
+2 more
GConflicting classifications of pathogenicity
ACTN2
(G570R +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1AA
+4 more
GConflicting classifications of pathogenicity
ACTN2
(R608W +1 more)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
ACTN2
(R640H +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1AA
+3 more
GUncertain significance
ACTN2
(E645fs +1 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1AA
+2 more
GUncertain significance
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