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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812357	NM_001378477.3(NYX):c.335T>A (p.Leu112Gln)	NYX (L117Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 812358	NM_001378477.3(NYX):c.481G>C (p.Ala161Pro)	NYX (A166P +1 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness	GLikely pathogenic
Select item 812359	NM_001378477.3(NYX):c.782T>C (p.Leu261Pro)	NYX (L266P +1 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness	GPathogenic
Select item 812360	NM_001378477.3(NYX):c.1003T>G (p.Cys335Gly)	NYX (C340G +1 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness	GLikely pathogenic
Select item 812361	NM_001378477.3(NYX):c.1054_1055del (p.Val352fs)	NYX (V352fs)	Microsatellite (frameshift variant)	Congenital stationary night blindness	GPathogenic
Select item 812362	NM_001378477.3(NYX):c.1246_1247dup (p.Ala417fs)	NYX (A422fs +1 more)	Duplication (frameshift variant)	Congenital stationary night blindness	GPathogenic

ClinVar