"DBGen Ocular Genomics"[submitter] AND "CNGA3"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2628058	NM_001298.3(CNGA3):c.580G>T (p.Glu194Ter)	CNGA3 (E176* +1 more)	Single nucleotide variant (nonsense)	Achromatopsia 2	GLikely pathogenic
Select item 2628057	NM_001298.3(CNGA3):c.1168_1169del (p.Leu390fs)	CNGA3 (L372fs +1 more)	Deletion (frameshift variant)	Achromatopsia 2	GLikely pathogenic
Select item 2628056	NM_001298.3(CNGA3):c.1451A>C (p.Gln484Pro)	CNGA3 (Q466P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1064470	NM_001298.3(CNGA3):c.1519del (p.Asp507fs)	CNGA3 (D489fs +1 more)	Deletion (frameshift variant)	Achromatopsia 2 +1 more	GPathogenic
Select item 959907	NM_001298.3(CNGA3):c.1520A>G (p.Asp507Gly)	CNGA3 (D489G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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