"Blueprint Genetics"[submitter] AND "CEP78"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 866098	NM_001330691.3(CEP78):c.62_64dup (p.Tyr21_Leu22insHis)	CEP78	Duplication (inframe_insertion)	Retinal dystrophy	GUncertain significance
Select item 867122	NM_001330691.3(CEP78):c.76C>T (p.Gln26Ter)	CEP78 (Q26*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 867155	NM_001330691.3(CEP78):c.211del (p.Val71fs)	CEP78 (V71fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 866173	NM_001330691.3(CEP78):c.254-1G>T	CEP78	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 866175	NM_001330691.3(CEP78):c.323T>G (p.Leu108Trp)	CEP78 (L108W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 837507	NM_001330691.3(CEP78):c.778+1G>A	CEP78	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 866101	NM_001330691.3(CEP78):c.1417G>T (p.Glu473Ter)	CEP78 (E473* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic

ClinVar