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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BAG3
(R71W)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
BAG3
(R123*)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1HH
+4 more
GPathogenic/Likely pathogenic
BAG3
(P209Q)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1HH
+1 more
GPathogenic
BAG3
(P209L)
Single nucleotide variant
(missense variant)
Peripheral neuropathy
+4 more
GPathogenic
BAG3
(R218fs)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1HH
GPathogenic
BAG3
(R218W)
Single nucleotide variant
(missense variant)
Familial isolated arrhythmogenic right ventricular dysplasia
+4 more
GConflicting classifications of pathogenicity
BAG3
(R258W)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign/Likely benign
BAG3
Deletion
Dilated cardiomyopathy 1HH
GPathogenic
BAG3
(L462P)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
BAG3
(R477H)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 6
+1 more
GUncertain significance
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