"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 993418	NM_002667.5(PLN):c.-97-9A>G	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 44578	NM_002667.5(PLN):c.27C>T (p.Arg9=)	CEP85L, PLN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity

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