"Blueprint Genetics"[submitter] AND "GNAT2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 623280	NM_001377295.2(GNAT2):c.720+2T>C	GNAT2, LOC129388577	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GLikely pathogenic
Select item 866040	NM_001377295.2(GNAT2):c.591-1G>C	GNAT2	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GLikely pathogenic