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Links from MedGen

Items: 92

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTN2
(M425T +2 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1AA
+3 more
GConflicting classifications of pathogenicity
ACTN2
(I452L +2 more)
Single nucleotide variant
(missense variant)
Myopathy, distal, 6, adult-onset, autosomal dominant
GUncertain significance
ACTN2
(G165S +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1AA
+4 more
GConflicting classifications of pathogenicity
ACTN2
(E134G +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1AA
+3 more
GConflicting classifications of pathogenicity
ACTN2
(R364Q +1 more)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+4 more
GUncertain significance
ACTN2
(D361E +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1AA
+3 more
GUncertain significance
ACTN2
(E240Q +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1AA
+3 more
GConflicting classifications of pathogenicity
ACTN2
(A670T +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
ACTN2
(N322S +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1AA
+4 more
GConflicting classifications of pathogenicity
ACTN2
(E373K +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1AA
+2 more
GUncertain significance
ACTN2
(N482S +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
ACTN2
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1AA
+3 more
GLikely benign
ACTN2
(M20T)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GUncertain significance
ACTN2
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1AA
+3 more
GConflicting classifications of pathogenicity
ACTN2
(L197F)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1AA
+4 more
GUncertain significance
ACTN2
Single nucleotide variant
(splice acceptor variant)
Myopathy, distal, 6, adult-onset, autosomal dominant
GUncertain significance
ACTN2
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1AA
+5 more
GLikely benign
ACTN2
(A675V +1 more)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
ACTN2
(G877C +1 more)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+3 more
GUncertain significance
ACTN2
(G597R +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1AA
+6 more
GConflicting classifications of pathogenicity
ACTN2
(L425P +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
ACTN2
(E310K +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GUncertain significance
ACTN2
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1AA
+3 more
GConflicting classifications of pathogenicity
ACTN2
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1AA
+2 more
GUncertain significance
ACTN2
Single nucleotide variant
(3 prime UTR variant)
Myopathy, congenital, with structured cores and z-line abnormalities
+2 more
GUncertain significance
ACTN2
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1AA
+2 more
GUncertain significance
ACTN2
Single nucleotide variant
(3 prime UTR variant)
Myopathy, congenital, with structured cores and z-line abnormalities
+2 more
GUncertain significance
ACTN2
Single nucleotide variant
(3 prime UTR variant)
Myopathy, congenital, with structured cores and z-line abnormalities
+2 more
GUncertain significance
ACTN2
(E364K +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1AA
+4 more
GConflicting classifications of pathogenicity
ACTN2
(E567K +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
ACTN2
(E636G +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1AA
+4 more
GUncertain significance
ACTN2
(E375A +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
ACTN2
(C487R +1 more)
Single nucleotide variant
(missense variant)
Myopathy, distal, 6, adult-onset, autosomal dominant
GLikely pathogenic
ACTN2
(L131P)
Single nucleotide variant
(missense variant +1 more)
Myopathy, distal, 6, adult-onset, autosomal dominant
GUncertain significance
ACTN2
(M658L +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1AA
+4 more
GUncertain significance
ACTN2
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1AA
+4 more
GUncertain significance
ACTN2
(R234W +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
ACTN2
(F256S +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+5 more
GUncertain significance
ACTN2
(A46S)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1AA
+3 more
GUncertain significance
ACTN2
(D241N)
Single nucleotide variant
(missense variant +2 more)
Dilated cardiomyopathy 1AA
+3 more
GUncertain significance
ACTN2
(R328W +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
ACTN2
(N391S +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
ACTN2
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+5 more
GUncertain significance
ACTN2
Single nucleotide variant
(synonymous variant)
Myopathy, congenital, with structured cores and z-line abnormalities
+4 more
GLikely benign
ACTN2
(E829K +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1AA
+4 more
GUncertain significance
ACTN2
(L229W)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1AA
+4 more
GUncertain significance
ACTN2
(R353Q +1 more)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
ACTN2
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1AA
+4 more
GLikely benign
ACTN2
(A259V +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+5 more
GUncertain significance
ACTN2
(R140H)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+5 more
GUncertain significance
ACTN2
(Q858P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
ACTN2
(E430Q +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1AA
+4 more
GConflicting classifications of pathogenicity
ACTN2
(A747V +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1AA
+3 more
GUncertain significance
ACTN2
(R299H +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1AA
+5 more
GConflicting classifications of pathogenicity
ACTN2
(T808I +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1AA
+6 more
GConflicting classifications of pathogenicity
ACTN2
(I591V +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
ACTN2
Single nucleotide variant
(intron variant)
not specified
+4 more
GLikely benign
ACTN2
(I685T +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
ACTN2
(A432V +1 more)
Single nucleotide variant
(missense variant)
Myopathy, congenital, with structured cores and z-line abnormalities
+5 more
GConflicting classifications of pathogenicity
ACTN2
(R662W +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
ACTN2
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1AA
+2 more
GUncertain significance
ACTN2
(R640C +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
ACTN2
(R608Q +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
ACTN2
(R328Q +1 more)
Single nucleotide variant
(missense variant)
Myopathy, congenital, with structured cores and z-line abnormalities
+4 more
GConflicting classifications of pathogenicity
ACTN2
Single nucleotide variant
(intron variant)
Primary familial hypertrophic cardiomyopathy
+5 more
GUncertain significance
ACTN2
(A868T +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
ACTN2
(R796L +1 more)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+3 more
GUncertain significance
ACTN2
(S885P +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1AA
+3 more
GUncertain significance
ACTN2
(Q349L +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
ACTN2
(D893G +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
ACTN2
(P856L +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
ACTN2
(A732T +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1AA
+6 more
GConflicting classifications of pathogenicity
ACTN2
(R721C +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
ACTN2
(D450Y +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1AA
+5 more
GUncertain significance
ACTN2
(V235M)
Single nucleotide variant
(missense variant +2 more)
Cardiovascular phenotype
+5 more
GUncertain significance
ACTN2
(R93Q)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1AA
+6 more
GConflicting classifications of pathogenicity
ACTN2
(H633Q +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
ACTN2
(R298H +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
ACTN2
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign/Likely benign
ACTN2
(D230E)
Single nucleotide variant
(missense variant +1 more)
Primary familial hypertrophic cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
ACTN2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GLikely benign
ACTN2
(I863L +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
ACTN2
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+7 more
GUncertain significance
ACTN2
(H775Y +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
ACTN2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GBenign/Likely benign
ACTN2
(A644T +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1AA
+7 more
GConflicting classifications of pathogenicity
ACTN2
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1AA
+4 more
GBenign/Likely benign
ACTN2
(D475N +1 more)
Single nucleotide variant
(missense variant)
not specified
+7 more
GBenign/Likely benign
ACTN2
(A462S +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
ACTN2
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GBenign/Likely benign
ACTN2
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GLikely benign
ACTN2
(Q9R)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
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