U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTN2
(R28C)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1AA
+1 more
GUncertain significance
ACTN2
(D65N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACTN2
(R93Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GConflicting classifications of pathogenicity
ACTN2
(R169T)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
ACTN2
(D241N)
Single nucleotide variant
(missense variant +2 more)
Dilated cardiomyopathy 1AA
+3 more
GUncertain significance
ACTN2
(I301N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTN2
(R353W +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
ACTN2
(R357H +1 more)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
GUncertain significance
ACTN2
(R394W +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
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
(E636K +1 more)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+2 more
GUncertain significance
ACTN2
(R662W +1 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
ACTN2
(R779K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTN2
(R796L +1 more)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+3 more
GUncertain significance
ACTN2
(Q806* +1 more)
Single nucleotide variant
(nonsense)
Left ventricular noncompaction cardiomyopathy
GUncertain significance
ACTN2
(A833T +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
ACTN2
(P648fs +1 more)
Indel
(frameshift variant)
not provided
GUncertain significance
Format
Items per page
Sort by
Choose Destination