C2931258[trait identifier] AND "Department Of Genetics, Sultan Qaboos - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 623307	NM_000180.4(GUCY2D):c.1391del (p.Gly464fs)	GUCY2D (G464fs)	Deletion (frameshift variant)	Leber congenital amaurosis 1	GLikely pathogenic
Select item 98550	NM_000180.4(GUCY2D):c.1956+2T>A	GUCY2D	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 1	GLikely pathogenic