"Revvity Omics, Revvity"[submitter] AND "CEP85L"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2439914	NM_001042475.3(CEP85L):c.2135T>C (p.Ile712Thr)	CEP85L (I712T +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 10	GUncertain significance
Select item 2439917	NM_001042475.3(CEP85L):c.1871_1874del (p.Asp624fs)	CEP85L (D624fs +1 more)	Deletion (frameshift variant)	Lissencephaly 10	GUncertain significance
Select item 2439916	NM_001042475.3(CEP85L):c.1590+3A>T	CEP85L	Single nucleotide variant (intron variant)	Lissencephaly 10	GUncertain significance
Select item 2439915	NM_001042475.3(CEP85L):c.1103A>G (p.Glu368Gly)	CEP85L (E368G +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 10	GUncertain significance
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
Select item 2439918	NM_001042475.3(CEP85L):c.451del (p.Arg151fs)	CEP85L (R151fs +1 more)	Deletion (frameshift variant)	Lissencephaly 10	GUncertain significance
Select item 2439919	NM_001042475.3(CEP85L):c.34G>C (p.Gly12Arg)	CEP85L, LOC129997071 (G12R)	Single nucleotide variant (missense variant +1 more)	Lissencephaly 10	GUncertain significance

ClinVar