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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP85L, PLN
(P21S)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 18
GUncertain significance
CEP85L, PLN
(L39*)
Single nucleotide variant
(nonsense +1 more)
Dilated cardiomyopathy 1P
+7 more
GPathogenic/Likely pathogenic