"Institute of Medical Genetics and Applied Genomics, University Hospit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184973	NM_001256789.3(CACNA1F):c.4462T>C (p.Cys1488Arg)	CACNA1F (C1434R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 21443	NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs)	CACNA1F (L1056fs +2 more)	Duplication (frameshift variant)	CACNA1F-related condition +2 more	GPathogenic
Select item 1275766	NM_001256789.3(CACNA1F):c.2928+1G>A	CACNA1F	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1184971	NM_001256789.3(CACNA1F):c.1877+2T>G	CACNA1F	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2445678	NM_001256789.3(CACNA1F):c.1044del (p.Trp349fs)	CACNA1F (W284fs +1 more)	Deletion (frameshift variant)	Congenital stationary night blindness 2A	GPathogenic
Select item 2444434	NM_001256789.3(CACNA1F):c.157C>T (p.Gln53Ter)	CACNA1F (Q53*)	Single nucleotide variant (nonsense +1 more)	X-linked cone-rod dystrophy 3	GPathogenic

ClinVar