U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTN2
(W36*)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GUncertain significance
ACTN2
(T45A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACTN2
(R89W)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+3 more
GUncertain significance
ACTN2
(I134T)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
ACTN2
Single nucleotide variant
(splice acceptor variant)
Dilated cardiomyopathy 1AA
+1 more
GConflicting classifications of pathogenicity
ACTN2
(T347M +1 more)
Single nucleotide variant
(missense variant)
Syncope
+7 more
GConflicting classifications of pathogenicity
ACTN2
(L182fs +1 more)
Indel
(frameshift variant)
not provided
GLikely pathogenic
ACTN2
(N270S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTN2
(R482W +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1AA
+2 more
GConflicting classifications of pathogenicity
ACTN2
(N427D +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ACTN2
(A644T +1 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
ACTN2
(I441V +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ACTN2
(R454G +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
ACTN2
(N437T +2 more)
Indel
(missense variant)
not provided
+3 more
GUncertain significance
ACTN2
(N482S +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
ACTN2
(Q703L +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
ACTN2
(R513H +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
ACTN2
(A615S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ACTN2
(R628Q +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination