"Clinical Genetics, Academic Medical Center"[submitter] AND "LOC130000 - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 417790	NM_177965.4(CFAP418):c.155+2T>C	CFAP418, CFAP418-AS1 +1 more	Single nucleotide variant (splice donor variant)	Cone-rod dystrophy 16 +1 more	GPathogenic
Select item 290835	NM_177965.4(CFAP418):c.126G>C (p.Arg42=)	CFAP418, CFAP418-AS1 +1 more	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity