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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTA1
Single nucleotide variant
(synonymous variant)
Familial restrictive cardiomyopathy
+3 more
GBenign/Likely benign
ACTA1
(G270D)
Single nucleotide variant
(missense variant)
Nemaline myopathy 3, autosomal dominant or recessive
+2 more
GPathogenic/Likely pathogenic
ACTA1
Duplication
(intron variant)
Nemaline myopathy
+5 more
GBenign/Likely benign
ACTA1
Duplication
(intron variant)
not specified
+1 more
GBenign/Likely benign
ACTA1
Single nucleotide variant
(intron variant)
Familial restrictive cardiomyopathy
+4 more
GBenign
ACTA1
Deletion
(intron variant)
not specified
+1 more
GBenign
ACTA1
(E239K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTA1
(M229V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACTA1
Single nucleotide variant
not provided
GLikely pathogenic
ACTA1
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ACTA1
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ACTA1
Single nucleotide variant
not provided
+1 more
GUncertain significance
ACTA1
(G48S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ACTA1
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ACTA1
Single nucleotide variant
(intron variant)
Familial restrictive cardiomyopathy
+4 more
GBenign
ACTA1
Single nucleotide variant
(intron variant)
Familial restrictive cardiomyopathy
+4 more
GBenign
ACTA1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
ACTA1
(D27E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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