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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP85L, PLN
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
CEP85L, PLN
(R14del)
Microsatellite
(inframe_deletion +1 more)
Dilated cardiomyopathy 1P
+6 more
GConflicting classifications of pathogenicity
CEP85L, PLN
(L39*)
Single nucleotide variant
(nonsense +1 more)
Intrinsic cardiomyopathy
+7 more
GPathogenic/Likely pathogenic
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