"OMIM"[submitter] AND "PLN"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 29836	NC_000006.12:g.118548219A>G	CEP85L, PLN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 220851	NC_000006.12:g.118548254C>G	CEP85L, PLN	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 18 +1 more	GUncertain significance
Select item 403328	NM_001042475.3(CEP85L):c.1020+17269T>G	CEP85L, PLN	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
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 44580	NM_002667.5(PLN):c.37AGA[1] (p.Arg14del)	CEP85L, PLN (R14del)	Microsatellite (inframe_indel +2 more)	SUDDEN INFANT DEATH SYNDROME +6 more	GConflicting classifications of pathogenicity
Select item 13637	NM_002667.5(PLN):c.116T>G (p.Leu39Ter)	CEP85L, PLN (L39*)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1P +7 more	GPathogenic/Likely pathogenic

ClinVar