"Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 906401	NM_001042475.3(CEP85L):c.1020+6663G>A	CEP85L, PLN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 13636	NM_002667.5(PLN):c.25C>T (p.Arg9Cys)	CEP85L, PLN (R9C)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic
Select item 202037	NM_002667.5(PLN):c.26G>A (p.Arg9His)	CEP85L, PLN (R9H)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 44578	NM_002667.5(PLN):c.27C>T (p.Arg9=)	CEP85L, PLN	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 355153	NM_001042475.3(CEP85L):c.1020+5206G>A	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P +1 more	GUncertain significance
Select item 904851	NM_001042475.3(CEP85L):c.1020+5170C>T	PLN, CEP85L	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P +1 more	GUncertain significance

ClinVar