"Sharon lab, Hadassah-Hebrew University Medical Center"[submitter] AND - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812243	NM_001256789.3(CACNA1F):c.4454G>A (p.Gly1485Glu)	CACNA1F (G1431E +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness	GLikely pathogenic
Select item 812244	NM_001256789.3(CACNA1F):c.4261-9G>A	CACNA1F	Single nucleotide variant (intron variant)	Congenital stationary night blindness	GLikely pathogenic
Select item 812245	NM_001256789.3(CACNA1F):c.4051C>T (p.Arg1351Ter)	CACNA1F (R1297* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	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 812247	NM_001256789.3(CACNA1F):c.2772del (p.Cys925fs)	CACNA1F (C925fs +2 more)	Deletion (frameshift variant)	Congenital stationary night blindness	GPathogenic
Select item 11617	NM_001256789.3(CACNA1F):c.2650C>T (p.Arg884Ter)	CACNA1F (R830* +2 more)	Single nucleotide variant (nonsense)	Congenital stationary night blindness +2 more	GPathogenic
Select item 812248	NM_001256789.3(CACNA1F):c.2470G>T (p.Glu824Ter)	CACNA1F (E824* +2 more)	Single nucleotide variant (nonsense)	Congenital stationary night blindness	GPathogenic
Select item 812249	NM_001256789.3(CACNA1F):c.2225T>G (p.Phe742Cys)	CACNA1F (F742C +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 812250	NM_001256789.3(CACNA1F):c.1276+34G>A	CACNA1F	Single nucleotide variant (intron variant +1 more)	Congenital stationary night blindness 2A	GPathogenic
Select item 812251	NM_001256789.3(CACNA1F):c.1015-2A>G	CACNA1F	Single nucleotide variant (splice acceptor variant)	Cone-rod dystrophy	GPathogenic
Select item 438129	NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del)	CACNA1F (F318del +1 more)	Microsatellite (inframe_deletion)	not provided	GPathogenic/Likely pathogenic
Select item 812252	NM_001256789.3(CACNA1F):c.187_193dup (p.Ala65fs)	CACNA1F (A65fs)	Duplication (frameshift variant +1 more)	Congenital stationary night blindness	GPathogenic