C1848172[trait identifier] AND "Laboratory of Genetics in Ophthalmolog - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 988790	NM_001256789.3(CACNA1F):c.5446C>T (p.Arg1816Ter)	CACNA1F (R1762* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 812246	NM_001256789.3(CACNA1F):c.3921G>A (p.Trp1307Ter)	CACNA1F (W1318* +2 more)	Single nucleotide variant (nonsense)	Congenital stationary night blindness +1 more	GPathogenic
Select item 988789	NM_001256789.3(CACNA1F):c.3182T>A (p.Val1061Asp)	CACNA1F (V1007D +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 2A	GLikely pathogenic
Select item 867055	NM_001256789.3(CACNA1F):c.3153G>A (p.Trp1051Ter)	CACNA1F (W1051* +2 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 988788	NM_001256789.3(CACNA1F):c.1982T>G (p.Leu661Arg)	CACNA1F (L607R +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 2A	GLikely pathogenic
Select item 988787	NM_001256789.3(CACNA1F):c.1723del (p.Ser575fs)	CACNA1F (S521fs +2 more)	Deletion (frameshift variant)	Congenital stationary night blindness 2A	GPathogenic
Select item 988791	NM_001256789.3(CACNA1F):c.818-820del	CACNA1F	Deletion (intron variant)	Congenital stationary night blindness 2A	GLikely pathogenic
Select item 988786	NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln)	CACNA1F (R82Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity

ClinVar