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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BAG3
(R19C)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+2 more
GUncertain significance
BAG3
(P95L)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
GUncertain significance
BAG3
(V108M)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
BAG3
(Y114fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
BAG3
(Y114C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
BAG3
(S182L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
BAG3
(S185L)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+4 more
GConflicting classifications of pathogenicity
BAG3
(P223R)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+3 more
GUncertain significance
BAG3
(A262V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
BAG3
Single nucleotide variant
(splice donor variant)
Primary dilated cardiomyopathy
GLikely pathogenic
BAG3
(C373Y)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
BAG3
(Q433*)
Single nucleotide variant
(nonsense)
Primary dilated cardiomyopathy
GLikely pathogenic
BAG3
(E455K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GPathogenic
BAG3
(P502A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
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