"Blueprint Genetics"[submitter] AND "NYX"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 99841	NM_001378477.3(NYX):c.70_93del (p.Arg24_Ala31del)	NYX	Deletion (inframe_deletion)	Congenital stationary night blindness 1A +2 more	GPathogenic
Select item 867038	NM_001378477.3(NYX):c.224G>C (p.Arg75Pro)	NYX (R80P +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866725	NM_001378477.3(NYX):c.317G>C (p.Arg106Pro)	NYX (R111P +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866219	NM_001378477.3(NYX):c.572C>T (p.Ala191Val)	NYX (A196V +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 867172	NM_001378477.3(NYX):c.603_746del (p.Ser205_Arg252del)	NYX	Deletion (inframe_deletion)	Retinal dystrophy	GLikely pathogenic
Select item 866117	NM_001378477.3(NYX):c.709_710delinsGG (p.Leu237Gly)	NYX (L242G +1 more)	Indel (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866203	NM_001378477.3(NYX):c.811_833del (p.Asp271fs)	NYX (D276fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic

ClinVar